Gene list

Search by:

Gene	Gene Synonym	Gene-OMIM	Disease	Acronym	Disease-OMIM	Method	Filter 1 A-Z	Filter 2 Group
AARS		601065	Charcot-Marie-Tooth neuropathy, axonal, type 2N	CMT2N	613287	SEQ, NGS	A	Neuro
AARS		601065	Epileptic encephalopathy, early infantile, type 29	EIEE29	616339	SEQ, NGS	A	Epi
ABCA4		601691	Stargardt disease type 1	STGD1	248200	SEQ, MLPA, NGS	A	Sensory
ABCB11		603201	Cholestasis, benign recurrent intrahepatic, type 2	BRIC2	605479	SEQ, NGS	A	Meta
ABCB11		603201	Cholestasis, progressive familial intrahepatic, type 2	PFIC2	601847	SEQ, NGS	A	Meta
ABCB4		171060	Cholelithiasis, low phospholipid-associated	LPAC, Gallbladder disease 1	600803	SEQ, MLPA, NGS	A	Meta
ABCB4		171060	Cholestasis, intrahepatic, of pregnancy, 3	ICP3	614972	SEQ, MLPA, NGS	A	Meta
ABCB4		171060	Cholestasis, progressive familial intrahepatic, type 3	PFIC3	602347	SEQ, MLPA, NGS	A	Meta
ABCC8	SUR1	600509	Hyperinsulinemic hypoglycemia, familial, type 1	HHF1, hyperinsulinism, familial type 1	256450	SEQ, MLPA, NGS	A	Meta
ACTA2		102620	Thoracic aortic aneurysm type 6	AAT6, FAA6	611788	SEQ, NGS	A	Tissue
ACVRL1		601284	Telangiectasia, hereditary hemorrhagic, type 2	HHT2, Osler-Rendu-Weber disease type 2	600376	SEQ, MLPA, NGS	A	Tissue
AFG3L2		604581	Spastic ataxia, autosomal recessive, type 5	SPAX5	614487	SEQ, NGS	A	Neuro
AFG3L2		604581	Spinocerebellar ataxia type 28	SCA28	610246	SEQ, NGS	A	Neuro
AGGF1, mutation exon 3: c.397G>A, p.E133K [VG5Q]		608464	Klippel-Trenaunay-Weber syndrome, predisposition	KTS	149000	SEQ	A	Syndro
AGPAT2		603100	Lipodystrophy, congenital generalized, type 1	CGL1, Berardinelli-Seip syndrome	608594	SEQ, NGS	A	Meta
ALAS2		301300	Protoporphyria, erythropoietic, X-linked	XLEPP	300752	SEQ, NGS	A	Meta
ALAS2		301300	Sideroblastic Anemia, X-linked	SIDBA1	300751	SEQ, NGS	A	Coagul
ALDH4A1	P5CDH	606811	Hyperprolinemia, type II	HYRPRO2, P5CDH1-Defizienz	239510	SEQ, NGS	A	Meta
ALDOB		612724	Fructose intolerance, hereditary	Fructosemia, aldolase B deficiency	229600	SEQ, MLPA, NGS	A	Meta
ALPL		171760	Hypophosphatasia, adult	HPPA	146300	SEQ, MLPA, NGS	A	Meta
ALPL		171760	Hypophosphatasia, childhood	HPPC	241510	SEQ, MLPA, NGS	A	Meta
ALPL		171760	Hypophosphatasia, infantile	HPPI	241500	SEQ, MLPA, NGS	A	Meta
ALPL		171760	Odontohypophosphatasia	HPPO	146300	SEQ, MLPA, NGS	A	Meta
ALS2	KIAA1563	606352	Amyotrophic lateral sclerosis type 2, juvenile	ALS2	205100	SEQ, NGS	A	Neuro
ALS2		606352	Primary lateral sclerosis, juvenile	PLSJ	606353	SEQ, NGS	A	Neuro
ALS2	KIAA1563	606352	Spastic paralysis, infantile-onset, ascending	IAHSP	607225	SEQ, NGS	A	Neuro
AMPD1		102770	AMP deaminase deficiency	Myoadenylat deaminase deficiency	615511	SEQ, NGS	A	Neuro
AMT	GCST	238310	Glycine encephalopathy	GCE, Hyperglycinemia nonketotic (NKH)	605899	SEQ, MLPA, NGS	A	Meta
ANG		105850	Amyotrophic lateral sclerosis type 9	ALS9	611895	SEQ, NGS	A	Neuro
ANK1		612641	Spherocytosis, type 1	HS1	182900	SEQ, NGS	A	Meta
ANO5		608662	Gnathodiaphyseal dysplasia	GDD	166260	SEQ, MLPA, NGS	A	Syndro
ANO5		608662	Miyoshi muscular dystrophy 3	MMD3	613319	SEQ, MLPA, NGS	A	Neuro
ANO5		608662	Muscular dystrophy, limb-girdle, type 2L	LGMD2L	611307	SEQ, MLPA, NGS	A	Neuro
ANOS1	KAL1	300836	Kallmann syndrome 1	Hypogonadotropic hypogonadism 1 with or without anosmia, HH1	308700	SEQ, MLPA, NGS	A	Syndro
APC		611731	Attenuated familial adenomatous polyposis	AFAP	175100	SEQ, MLPA, NGS	A	Tumor
APC		611731	Familial adenomatous polyposis coli, familial polyposis of the colon	FAP	175100	SEQ, MLPA, NGS	A	Tumor
APOB p.R3527Q [R3500Q], p.R3558C [R3531C]		107730	Apolipoprotein B100, familial ligand-defective	Hypercholesterolemia, familial, 2, FCHL2	144010	SEQ	A	Meta
APOB p.R3527Q [R3500Q], p.R3558C [R3531C]		107730	Hypercholesterolemia, familial, type 2	FHCL2	144010	SEQ	A	Meta
APOE E2/E3/E4-Allele		107741	Alzheimer disease type 2, familial	AD2	104310	SEQ	A	Neuro
APP		104760	Alzheimer disease type 1, familial	AD	104300	SEQ, MLPA, NGS	A	Neuro
APTX		606350	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AOA1	208920	SEQ, MLPA, NGS	A	Neuro
AR		313700	Androgen insensitivity	AIS	300068	SEQ, MLPA, NGS	A	Meta
AR		313700	Androgen insensitivity, partial, with or without breast cancer	PAIS	312300	SEQ, MLPA, NGS	A	Meta
AR, CAG repeat in exon 1		313700	Spinal and bulbar muscular atrophy	SBMA, Kennedy disease	313200	REP	A	Neuro
ARG1		608313	Argininemia	Arginase deficiency	207800	SEQ, NGS	A	Meta
ARG1		608313	Argininemia	Arginase deficiency	207800	SEQ, NGS	A	Path
ARMS2 p.A69S	LOC387715	611313	Age-related macular degeneration 8	ARMD8	613778	SEQ	A	Sensory
ARSA		607574	Metachromatic leukodystrophy	Arylsulfatase A deficiency, diffuse cerebral sclerosis	250100	SEQ, NGS	A	Meta
ARX		300382	Corpus callosum, agenesis of, with abnormal genitalia	Proud syndrome	300004	SEQ, MLPA, NGS	A	Syndro
ARX		300382	Epileptic encephalopathy, early infantile, type 1	EIEE1, X-linked infantile spasm syndrome, ISSX, West syndrome	308350	SEQ, MLPA, NGS	A	Epi
ARX		300382	Lissencephaly (X-linked) with ambiguous genitalia		300215	SEQ, MLPA, NGS	A	Syndro
ARX		300382	X-linked mental retardation with dystonia, ataxia and seizures	Partington syndrome	309510	SEQ, MLPA, NGS	A	Epi
ASL		608310	Argininosuccinase deficiency	Argininosuccinic aciduria	207900	SEQ, NGS	A	Path
ASL		608310	Argininosuccinase deficiency	Argininosuccinic aciduria	207900	SEQ, NGS	A	Meta
ASS1		603470	Citrullinemia, classic	Citrullinemia type I, CTLN1	215700	SEQ, NGS	A	Meta
ASS1		603470	Citrullinemia, classic	Citrullinemia type I, CTLN1	215700	SEQ, NGS	A	Path
ATL1	SPG3A	606439	Spastic paraplegia type 3, autosomal dominant	Strumpell disease	182600	SEQ, MLPA, NGS	A	Neuro
ATM		607585	Ataxia teleangiectasia	Louis-Bar-syndrome	208900	SEQ, MLPA, NGS	A	Neuro
ATM		607585	Ataxia teleangiectasia	Louis-Bar syndrome	208900	SEQ, MLPA, NGS	A	Tumor
ATM		607585	Familial breast cancer		114480	SEQ, MLPA, NGS	A	Tumor
ATP1A2		182340	Alternating hemiplegia of childhood 1	AHC1	104290	SEQ, MLPA, NGS	A	Neuro
ATP1A2		182340	Familial hemiplegic migraine type 2	FHM2	602481	SEQ, MLPA, NGS	A	Neuro
ATP1A3		182350	Alternating hemiplegia of childhood 2	AHC2	614820	SEQ, MLPA, NGS	A	Neuro
ATP1A3		182350	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss	CAPOS-syndrome	601338	SEQ, MLPA, NGS	A	Neuro
ATP1A3		182350	Dystonia type 12	DYT12	128235	SEQ, MLPA, NGS	A	Neuro
ATP2A2		108740	Darier-White disease	DAR, keratosis follicularis	124200	SEQ, NGS	A	Geno
ATP2C1		604384	Hailey-Hailey disease	Benign familial pemphigus, BCPM	169600	SEQ, NGS	A	Geno
ATP7B		606882	Wilson disease		277900	SEQ, MLPA, NGS	A	Meta
ATP8B1		602397	Cholestasis, benign recurrent intrahepatic, type 1	BRIC1, Summerskill syndrome	243300	SEQ, NGS	A	Meta
ATP8B1		602397	Cholestasis, intrahepatic, of pregnancy, 1	ICP1	147480	SEQ, NGS	A	Meta
ATP8B1		602397	Cholestasis, progressive familial intrahepatic, type 1	PFIC1, Byler Disease	211600	SEQ, NGS	A	Meta
ATRX		300032	Alpha-thalassemia/mental retardation syndrome, X-linked	ATRX	301040	SEQ, MLPA, NGS	A	Syndro
ATXN1 repeat		601556	Spinocerebellar ataxia type 1	SCA1	164400	REP	A	Neuro
ATXN2 repeat		601517	Spinocerebellar ataxia type 2	SCA2	183090	REP	A	Neuro
ATXN3 repeat		607047	Spinocerebellar ataxia type 3	SCA3, Machado-Joseph disease	109150	REP	A	Neuro
ATXN7 repeat		607640	Spinocerebellar ataxia type 7	SCA7	164500	REP	A	Neuro
ATXN8OS repeat		603680	Spinocerebellar ataxia type 8	SCA8	608768	REP	A	Neuro
AXIN2		604025	Oligodontia-colorectal cancer syndrome	ODCRCS	608615	SEQ, NGS	A	Syndro
BEST1		607854	Bestrophinopathy, autosomal recessive	ARB	611809	SEQ, MLPA, NGS	B	Sensory
BEST1		607854	Early-onset vitelliform macular dystrophy	VMD2	153700	SEQ, MLPA, NGS	B	Sensory
BEST1		607854	Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma	MRCS	193220	SEQ, MLPA, NGS	B	Sensory
BEST1		607854	Vitreoretinochoroidopathy	VRCP	193220	SEQ, MLPA, NGS	B	Sensory
BMP15		300247	Premature ovarian failure type 4	POF4	300510	SEQ, NGS	B	Syndro
BMPR1A		601299	Hereditary mixed polyposis syndrome type 2	HMPS2	610069	SEQ, MLPA, NGS	B	Tumor
BMPR1A		601299	Juvenile, intestinal polyposis	JIP	174900	SEQ, MLPA, NGS	B	Tumor
BRAF		164757	Cardiofaciocutaneous syndrome 1	CFC1	115150	SEQ, NGS	B	Syndro
BRAF		164757	LEOPARD syndrome 3	LPRD3	613707	SEQ, NGS	B	Syndro
BRAF		164757	Noonan syndrome 7	NS7	613706	SEQ, NGS	B	Syndro
BRCA1		113705	Familial breast-ovarian cancer type 1	HBOC1	604370	SEQ, MLPA, NGS	B	Tumor
BRCA1		113705	Pancreatic cancer, susceptibility, type 4	PNCA4	614320	SEQ, MLPA, NGS	B	Tumor
BRCA2		600185	Familial breast-ovarian cancer type 2	HBOC2	612555	SEQ, MLPA, NGS	B	Tumor
BRCA2		600185	Pancreatic cancer, susceptibility, type 2	PNCA2	613347	SEQ, MLPA, NGS	B	Tumor
BSCL2		606158	Lipodystrophy, congenital generalized, type 2	CGL2, Berardinelli-Seip syndrome	269700	SEQ, NGS	B	Tissue
BSCL2		606158	Lipodystrophy, congenital generalized, type 2	CGL2, Berardinelli-Seip syndrome	269700	SEQ, NGS	B	Meta
BSCL2		606158	Neuropathy, distal hereditary motor, type VA	HMN5A	600794	SEQ, NGS	B	Neuro
BSCL2		606158	Spastic paraplegia type 17, autosomal dominant	SPG17, Silver syndrome	270685	SEQ, NGS	B	Neuro
BTBD9 rs3923809		611237	Restless legs syndrome, periodic limb movements in sleep, type 6	RLS6	611185	SEQ	B	Neuro
C10ORF11		614537	Albinism, oculocutaneous, type 7	OCA7	615179	SEQ, NGS	C	Meta
C12orf57		615140	Temtamy syndrome	TEMTYS	218340	SEQ, NGS	C	Syndro
C9orf72 repeat		614260	Frontotemporal dementia and/or amyotrophic lateral sclerosis	FTDALS1	105550	REP	C	Neuro
CA8		114815	Cerebeller ataxia, mental retardation and dysequilibrium syndrome 3	CAMRQ3	613227	SEQ, NGS	C	Neuro
CACNA1A		601011	Episodic ataxia type 2	episodic ataxia with myokymia	108500	SEQ, MLPA, NGS	C	Neuro
CACNA1A		601011	Familial hemiplegic migraine type 1	FHM1	141500	SEQ, MLPA, NGS	C	Neuro
CACNA1A exon 47 CAG repeat		601011	Spinocerebellar ataxia type 6	SCA6	183086	REP	C	Neuro
CACNA1C		114205	Brugada syndrome type 3	BRGDA3	611875	SEQ, NGS	C	Cardio
CACNA1C		114205	Timothy syndrome	TS, Long QT syndrome with syndactyly	601005	SEQ, NGS	C	Cardio
CACNA1S		114208	Hypokalemic periodic paralysis type 1	HOKPP1	170400	SEQ, MLPA, NGS	C	Neuro
CACNA1S		114208	Malignant hyperthermia susceptibility 5	MHS5	601887	SEQ, MLPA, NGS	C	Meta
CACNA1S		114208	Thyrotoxic periodic paralysis type 1	TTPP1	188580	SEQ, MLPA, NGS	C	Neuro
CACNB2		600003	Brugada syndrome type 4	BRGDA4	611876	SEQ, NGS	C	Cardio
CACNB4		601949	Episodic ataxia type 5	EA5	613855	SEQ, NGS	C	Neuro
CACNB4		601949	Idiopathic generalized epilepsy, susceptibility to, 9	EIG9	607682	SEQ, NGS	C	Epi
CACNB4		601949	Juvenile myoclonus epilepsy, susceptibility, 6	EJM6	607682	SEQ, NGS	C	Epi
CALM3		114183	Catecholaminergic polymorphic ventricular tachycardia-6	CPVT6	618782	SEQ, NGS	C	Cardio
CALM3		114183	Long QT syndrome 16	LQT16	618782	SEQ, NGS	C	Cardio
CAPN3		114240	Muscular dystrophy, limb-girdle, type 2A	LGMD2A	253600	SEQ, MLPA, NGS	C	Neuro
CAV1		601047	Lipodystrophy, congenital generalized, type 3	CGL3, Berardinelli-Seip syndrome	612526	SEQ, NGS	C	Meta
CAV1		601047	Lipodystrophy, familial partial, type 7	FPLD7, lipodystrophy congenital cataracts, with or without neurodegeneration syndrome (LCCNS)	606721	SEQ, NGS	C	Meta
CAV1		601047	Pulmonary hypertension, primary, 3	PPH3	615343	SEQ, NGS	C	Cardio
CAV3		601253	Cardiomyopathy, familial hypertrophic	CMH	192600	SEQ, MLPA, NGS	C	Cardio
CAV3		601253	Creatine phosphokinase, elevated serum	high serum CPK	123320	SEQ, MLPA, NGS	C	Cardio
CAV3		601253	Long QT syndrome 9	LQT9	611818	SEQ, MLPA, NGS	C	Cardio
CAV3		601253	Muscular dystrophy, limb-girdle, type 1C	LGMD1C	607801	SEQ, MLPA, NGS	C	Neuro
CAV3		601253	Myopathy, distal, Tateyama type	MPDT	614321	SEQ, MLPA, NGS	C	Neuro
CAV3		601253	Rippling muscle disease	RMD	606072	SEQ, MLPA, NGS	C	Neuro
CBL		165360	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	NSLL, CBL syndrome	613563	SEQ, NGS	C	Syndro
CCBE1		612753	Hennekam syndrome	Hennekam lymphangiectasia-lymphedema syndrome, HKLLS1	235510	SEQ, NGS	C	Syndro
CDH1		192090	Hereditary diffuse gastric cancer		137215	SEQ, MLPA, NGS	C	Tumor
CDK4 exon 2		123829	Familial atypical mole-malignant melanoma syndrome	FAMMM, cutaneous malignant melanoma-1, CMM1, familial melanoma, MLM	155600	SEQ	C	Tumor
CDK4 exon 2		123829	Melanoma-pancreatic cancer syndrome, familial	MPCS, Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome FAMMM-PC	606719	SEQ	C	Tumor
CDK4 only exon 2 and MLPA		123829	Cutaneous malignant melanoma-3	CMM3	609048	SEQ, MLPA	C	Neuro
CDKL5		300203	Epileptic encephalopathy, early infantile, type 2	EIEE2	300672	SEQ, MLPA, NGS	C	Epi
CDKN1B		600778	Multiple endocrine neoplasia type 4	MEN4	610755	SEQ, MLPA, NGS	C	Tumor
CDKN1C	KIP2	600856	Beckwith-Wiedemann syndrome	BWS	130650	SEQ, MLPA, NGS	C	Syndro
CDKN1C	KIP2	600856	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	IMAGE syndrome	614732	SEQ, MLPA, NGS	C	Syndro
CDKN2A		600160	Familial atypical mole-malignant melanoma syndrome	FAMMM, familial melanoma, MLM	155600	SEQ, MLPA, NGS	C	Tumor
CDKN2A		600160	Melanoma-pancreatic cancer syndrome, familial	MPCS, Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome FAMMM-PC	606719	SEQ, MLPA, NGS	C	Tumor
CFH p.Y402H	HF	134370	Age-related macular degeneration 4	ARMD4	610698	SEQ	C	Sensory
CFTR		602421	Congenital bilateral absence of vas deferens	CBAVD	277180	SEQ, MLPA, NGS	C	Syndro
CFTR		602421	Cystic fibrosis	CF, mucoviscidosis	219700	SEQ, MLPA, NGS	C	Meta
CFTR		602421	Hereditary pancreatitis	PCTT	167800	SEQ, MLPA, NGS	C	Tumor
CHEK2		604373	Familial breast cancer		114480	SEQ, MLPA, NGS	C	Tumor
CHEK2		604373	Li-Fraumeni syndrome 2	LFS2	609265	SEQ, MLPA, NGS	C	Tumor
CHMP2B		609512	Frontotemporal dementia type 3	FTD3	600795	SEQ, NGS	C	Neuro
CHST14		608429	Ehlers-Danlos syndrome, musculocontractural type 1	EDSMC1	601776	SEQ, NGS	C	Tissue
CIDEC		612120	Lipodystrophy, familial partial, type 5	FPLD5	615238	SEQ, NGS	C	Meta
CLCN1		118425	Myotonia congenita Becker, autosomal recessive		255700	SEQ, MLPA, NGS	C	Neuro
CLCN1		118425	Myotonia congenita Thomsen, autosomal dominant		160800	SEQ, MLPA, NGS	C	Neuro
CLN6		606725	Ceroid lipofuscinosis, neuronal, 4a, autosomal recessive	CLN4A, adult onset, Kufs type	204300	SEQ, MLPA, NGS	C	Meta
CLN6		606725	Ceroid lipofuscinosis, neuronal, 6	CLN6, late infantile, variant	601780	SEQ, MLPA, NGS	C	Meta
COL11A1		120280	Fibrochondrogenesis type 1	FBCG1	228520	SEQ, MLPA, NGS	C	Tissue
COL11A1		120280	Marshall syndrome	MRSHS	154780	SEQ, MLPA, NGS	C	Tissue
COL11A1		120280	Stickler syndrome type 2, autosomal dominant	STL2	604841	SEQ, MLPA, NGS	C	Tissue
COL11A2		120290	Deafness, autosomal dominant, type 13	DFNA13	601868	SEQ, NGS	C	Sensory
COL11A2		120290	Deafness, autosomal recessive, type 53	DFNB53	609706	SEQ, NGS	C	Sensory
COL11A2		120290	Fibrochondrogenesis type 2	FBCG2	614524	SEQ, NGS	C	Tissue
COL11A2		120290	Otospondylomegaepiphyseal dysplasia, autosomal dominant	OSMEDA, Weissenbacher-Zweymuller syndrome, WZS, formerly: Stickler syndrome type 3, STL3	184840	SEQ, NGS	C	Syndro
COL11A2		120290	Otospondylomegaepiphyseal dysplasia, autosomal recessive	OSMED	215150	SEQ, NGS	C	Tissue
COL11A2		120290	Stickler syndrome type 3, autosomal dominant	STL3	184840	SEQ, NGS	C	Tissue
COL1A1		120150	Ehlers-Danlos syndrome, arthrochalasia type 1	EDSARTH1	130060	SEQ, MLPA, NGS	C	Tissue
COL1A1		120150	Osteogenesis imperfecta, type I	OI1	166200	SEQ, MLPA, NGS	C	Tissue
COL1A1		120150	Osteogenesis imperfecta, type II	OI2	166210	SEQ, MLPA, NGS	C	Tissue
COL1A1		120150	Osteogenesis imperfecta, type III	OI3	259420	SEQ, MLPA, NGS	C	Tissue
COL1A1		120150	Osteogenesis imperfecta, type IV	OI4	166220	SEQ, MLPA, NGS	C	Tissue
COL1A2		120160	Ehlers-Danlos syndrome, arthrochalasia type 2	EDSARTH2	617821	SEQ, MLPA, NGS	C	Tissue
COL1A2		120160	Osteogenesis imperfecta, type II	OI2	166210	SEQ, MLPA, NGS	C	Tissue
COL1A2		120160	Osteogenesis imperfecta, type III	OI3	259420	SEQ, MLPA, NGS	C	Tissue
COL1A2		120160	Osteogenesis imperfecta, type IV	OI4	166220	SEQ, MLPA, NGS	C	Tissue
COL2A1		120140	Achondrogenesis type 2	ACG2	200610	SEQ, MLPA, NGS	C	Tissue
COL2A1		120140	Kniest dysplasia		156550	SEQ, MLPA, NGS	C	Tissue
COL2A1		120140	Perthes disease	Legg-Calve-Perthes disease	150600	SEQ, MLPA, NGS	C	Tissue
COL2A1		120140	Spondyloepiphyseal dysplasia congenita	SEDC	183900	SEQ, MLPA, NGS	C	Tissue
COL2A1		120140	Stickler syndrome type I, autosomal dominant	STL1	108300	SEQ, MLPA, NGS	C	Tissue
COL3A1		120180	Ehlers-Danlos syndrome type IV	vascular type	130050	SEQ, MLPA, NGS	C	Tissue
COL4A1		120130	Porencephaly type 1	POREN1, Brain Small Vessel Disease	175780	SEQ, NGS	C	Neuro
COL4A2		120090	Porencephaly type 2	POREN2, Brain Small Vessel Disease	2614483	SEQ, NGS	C	Neuro
COL4A3		120070	Alport syndrome 2, autosomal recessive	ATS2	203780	SEQ, MLPA, NGS	C	Kidney
COL4A3		120070	Alport syndrome 3, autosomal dominant	ATS3	104200	SEQ, MLPA, NGS	C	Kidney
COL4A3		120070	Alport syndrome 3, autosomal dominant	ATS3	104200	SEQ, MLPA, NGS	C	Syndro
COL4A3		120070	Hematuria, familial benign	Thin-basement-membrane nephropathy, TBMN	141200	SEQ, MLPA, NGS	C	Kidney
COL4A3		120070	Hematuria, familial benign	Thin-basement-membrane nephropathy, TBMN	141200	SEQ, MLPA, NGS	C	Syndro
COL4A4		120131	Alport syndrome 2, autosomal recessive	ATS2	203780	SEQ, MLPA, NGS	C	Syndro
COL4A5		303630	Alport syndrome 1, X-linked	ATS1	301050	SEQ, MLPA, NGS	C	Kidney
COL4A5		303630	Alport syndrome 1, X-linked	ATS1	301050	SEQ, MLPA, NGS	C	Syndro
COL5A1		120215	Ehlers-Danlos syndrome, classic type 1	EDSCL1	130000	SEQ, MLPA, NGS	C	Tissue
COL5A2		120190	Ehlers-Danlos syndrome, classic type 2	EDSCL2	130010	SEQ, NGS	C	Tissue
COL9A2		120260	Epiphyseal dysplasia, multiple, 2	EDM2	600204	SEQ, NGS	C	Tissue
COL9A2		120260	Stickler syndrome type 5, autosomal recessive	STL5	614284	SEQ, NGS	C	Tissue
COL9A3 c.280C>T, c.307C>T		120270	Intervertebral disc disease	IDD	603932	SEQ	C	Tissue
CPS1		608307	Carbamoylphosphate synthetase I deficiency	CPS1 deficiency	237300	SEQ, NGS	C	Meta
CPS1		608307	Carbamoylphosphate synthetase I deficiency	CPS1 deficiency	237300	SEQ, NGS	C	Path
CTRC		601405	Hereditary pancreatitis	PCTT	167800	SEQ, NGS	C	Tumor
CXORF5		300170	Orofaciodigital syndrome type 1	OFD I	311200	SEQ, NGS	C	Syndro
CYB5A		613218	Methemoglobinemia type 4		250790	SEQ, NGS	C	Coagul
CYB5R3		613213	Methemoglobinemia, type 1 and 2	Methemoglobinemia due to deficiency of methemoglobin reductase	250800	SEQ, NGS	C	Coagul
CYP21A2		613815	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency		201910	SEQ, MLPA, NGS	C	Meta
CYP4V2		608614	Bietti crystalline corneoretinal dystrophy	BCD	210370	SEQ, NGS	C	Sensory
CYP7B1		603711	Spastic paraplegia type 5 A, autosomal recessive	SPG5A	270800	SEQ, MLPA, NGS	C	Neuro
DCX		300121	Lissencephaly, X-linked	LISX1	300067	SEQ, MLPA, NGS	D	Syndro
DCX		300121	Subcortical laminar heterotopia, X-linked	SCLH	300067	SEQ, MLPA, NGS	D	Syndro
DDC	AADC	107930	Aromatic L-amino acid decarboxylase deficiency	AADCD, dopa decarboxylase deficiency	608643	SEQ, NGS	D	Neuro
del10p13-14			DiGeorge syndrome / velocardiofacial syndrome complex-2		601362	MLPA	#	Micro
del11p13 (PAX6, WT1 genes)		607108, 607102	Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome	WAGR syndrome, chromosome 11p13 deletion syndrome	194072	MLPA	#	Micro
del11q23			Jacobsen syndrome	chromosome 11q deletion syndrome	147791	MLPA	#	Micro
del17p11.2 (RAI1 gene)		607642	Smith-Magenis syndrome		182290	MLPA	#	Micro
del17p13.3 (LIS1 gene)			Miller-Dieker lissencephaly syndrome	MDLS	247200	MLPA	#	Micro
del22q11.2			DiGeorge syndrome		188400	MLPA	#	Micro
del22q11.2			Velocardiofacial syndrome		192430	MLPA	#	Micro
del7q11.23			Williams-Beuren syndrome		194050	MLPA	#	Micro
del8q24.11-q24.13 (TRPS1, EXT1 genes)		604386, 608177	Langer-Giedion syndrome	trichorhinophalangeal syndrome, type II	150230	MLPA	#	Micro
DHCR7		602858	Smith-Lemli-Opitz syndrome	SLOS	270400	SEQ, MLPA, NGS	D	Syndro
DLL3		602768	Spondylocostal dysostosis-1, autosomal recessive	SCDO1	277300	SEQ, NGS	D	Tissue
DMD		300377	Becker muscular dystrophy	BMD	300376	SEQ, MLPA, NGS	D	Neuro
DMD		300377	Duchenne muscular dystrophy	DMD	310200	SEQ, MLPA, NGS	D	Neuro
DNM2		602378	Charcot-Marie-Tooth neuropathy, axonal, type 2M	CMT2M	606482	SEQ, NGS	D	Neuro
DNM2		602378	Charcot-Marie-Tooth neuropathy, dominant intermediate, type B	CMTDIB	606482	SEQ, NGS	D	Neuro
DNM2		602378	Myotubular myopathy/ centronuclear myopathy, autosomal dominant	CNM1	160150	SEQ, NGS	D	Neuro
DPYD exons 11, 13, 14 and 22		612779	Dihydropyrimidine dehydrogenase deficiency		274270	SEQ	D	Meta
DPYD, exons 11, 13, 14 and 22		612779	5-fluorouracil toxicity		274270	SEQ	D	Pharma
DPYS		613326	Dihydropyrimidinase deficiency	DPYSD, Dihydropyrimidinuria	222748	SEQ, NGS	D	Meta
dup17p11.2 (RAI1 gene)		607642	Potocki-Lupski syndrome	PTLS	610883	MLPA	#	Micro
DYSF		603009	Miyoshi muscular dystrophy 1	MMD1	254130	SEQ, MLPA, NGS	D	Neuro
DYSF		603009	Muscular dystrophy, limb-girdle, type 2B	LGMD2B	253601	SEQ, MLPA, NGS	D	Neuro
EDN3		131242	Hirschsprung disease type 4	HSCR4	613712	SEQ, MLPA, NGS	E	Syndro
EDN3		131242	Waardenburg syndrome, type 4B	WS4B	613265	SEQ, MLPA, NGS	E	Syndro
EDNRB		131244	ABCD syndrome	ABCDS, albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness	600501	SEQ, MLPA, NGS	E	Syndro
EDNRB		131244	Hirschsprung disease type 2	HSCR2	600155	SEQ, MLPA, NGS	E	Syndro
EDNRB		131244	Waardenburg syndrome, type 4A	WS4A	277580	SEQ, MLPA, NGS	E	Syndro
EGR2		129010	Charcot-Marie-Tooth neuropathy type 1D	CMT1D, HMSN1D	607678	SEQ, MLPA, NGS	E	Neuro
EHMT1		607001	Kleefstra syndrome		610253	SEQ, MLPA, NGS	E	Syndro
EIF2B2		606454	Leukoencephalopathy with vanishing white matter	VWM	603896	SEQ, NGS	E	Neuro
EIF2B2		606454	Ovarioleukodystrophy	Vanishing white matter leukodystrophy with ovarian failure	603896	SEQ, NGS	E	Neuro
EIF2B5		603945	Leukoencephalopathy with vanishing white matter	VWM	603896	SEQ, NGS	E	Neuro
EIF2B5		603945	Ovarioleukodystrophy	Vanishing white matter leukodystrophy with ovarian failure	603896	SEQ, NGS	E	Neuro
EMD		300384	Emery-Dreifuss muscular dystrophy type 1, X-linked	EDMD1	310300	SEQ, NGS	E	Neuro
ENG		131195	Telangiectasia, hereditary hemorrhagic, type 1	HHT1, Osler-Rendu-Weber disease type 1	187300	SEQ, MLPA, NGS	E	Tissue
ERCC2		126340	Cerebrooculofacioskeletal syndrome type 2	COFS2	610756	SEQ, NGS	E	Syndro
ERCC2		126340	Trichothiodystrophy, photosensitive	TTDP	601675	SEQ, NGS	E	Geno
ERCC2		126340	Xeroderma pigmentosum, group D	XPG	278730	SEQ, NGS	E	Geno
ERCC5		133530	Cerebrooculofacioskeletal syndrome type 3	COFS3	616570	SEQ, NGS	E	Syndro
ERCC5		133530	Xeroderma pigmentosum, group G	XPG	278780	SEQ, NGS	E	Geno
ERCC6		609413	Cerebrooculofacioskeletal syndrome type 1	COFS1, Pena-Shokeir syndrome type 2	214150	SEQ, NGS	E	Syndro
ERCC6		609413	Cockayne syndrome, type B	CSB	133540	SEQ, NGS	E	Syndro
ERCC6		609413	De Sanctis-Cacchione syndrome		278800	SEQ, NGS	E	Syndro
ERCC8		609412	Cockayne syndrome, type A	CSA	216400	SEQ, NGS	E	Syndro
ERCC8		609412	UV-sensitive syndrome type 2	UVSS2	614621	SEQ, NGS	E	Syndro
EXT1		608177	Exostoses, multiple, type 1	multiple hereditary exostoses type 1	133700	SEQ, MLPA, NGS	E	Tissue
EXT2		608210	Exostoses, multiple, type 2	multiple hereditary exostoses type 2	133701	SEQ, MLPA, NGS	E	Tissue
EZH2		601573	Weaver syndrome	Weaver-Smith syndrome	277590	SEQ, NGS	E	Syndro
F11		264900	Factor XI deficiency	Hemophilia C, plasma thromboplastin antecedent	612416	SEQ, MLPA, NGS	F	Coagul
F12		610619	Angioedema, hereditary, type III	HAE3	610618	SEQ, MLPA, NGS	F	Meta
F12		610619	Factor XII deficiency	Hageman factor deficiency	234000	SEQ, MLPA, NGS	F	Coagul
F2 G20210A	Factor II	176930	Factor II defect	Prothrombin	188050	SEQ	F	Coagul
F5 FVL mutation	Factor V	612309	Factor V deficiency	Factor V Leiden mutation	188055	SEQ	F	Coagul
F7	Factor VII	613878	Factor VII deficiency	Hypoproconvertinemia	227500	SEQ, MLPA, NGS	F	Coagul
F9	Factor IX	300746	Factor IX deficiency	Hemophilia B, Christmas disease	306900	SEQ, MLPA, NGS	F	Coagul
FAM20C		611061	Raine syndrome	RNS, osteosclerotic bone dysplasia, lethal	259775	SEQ, NGS	F	Syndro
FAM20C		611061	Raine syndrome	RNS, osteosclerotic bone dysplasia, lethal	259775	SEQ, NGS	F	Tissue
FBN1		134797	Marfan syndrome	MFS, MFS1	154700	SEQ, MLPA, NGS	F	Tissue
FBN2 exons 8, 9, 17, 24 – 35		612570	Contractural arachnodactyly, congenital	CCA, Beals syndrome, Beals-Hecht syndrome	121050	SEQ	F	Tissue
FGFR1		136350	Jackson-Weiss syndrome	Craniosynostosis, midfacial hypoplasia, and foot abnormalities	123150	SEQ, MLPA, NGS	F	Syndro
FGFR1		136350	Kallmann syndrome 2	Hypogonadotropic hypogonadism 2 with or without anosmia	147950	SEQ, MLPA, NGS	F	Syndro
FGFR1 p.Pro252Arg		136350	Pfeiffer syndrome	FGFR1 136350 p.Pro252Arg	101600	SEQ	F	Syndro
FGFR2		176943	Apert syndrome	Acrocephalosyndactyly type 1	101200	SEQ, MLPA, NGS	F	Syndro
FGFR2		176943	Beare-Stevenson syndrome	BSTVS	123790	SEQ, MLPA, NGS	F	Syndro
FGFR2		176943	Crouzon syndrome	Craniofacial dysostosis, type 1, CFD1	123500	SEQ, MLPA, NGS	F	Syndro
FGFR2		176943	Pfeiffer syndrome		101600	SEQ, MLPA, NGS	F	Syndro
FGFR3		134934	Achondroplasia	ACH	100800	SEQ, MLPA, NGS	F	Tissue
FGFR3		134934	Hypochondroplasia	HCH	146000	SEQ, MLPA, NGS	F	Tissue
FGFR3		134934	Thanatophoric dysplasia type I	TD1	187600	SEQ, MLPA, NGS	F	Tissue
FGFR3		134934	Thanatophoric dysplasia type II	TD2	187601	SEQ, MLPA, NGS	F	Tissue
FGFR3 mutation p.Ala391Glu		134934	Crouzon syndrome with acanthosis nigricans	CAN	612247	SEQ	F	Syndro
FGFR3 mutation p.Arg621His		134934	Camptodactyly, tall stature and hearing loss	CATSHL syndrome	610474	SEQ	F	Syndro
FGFR3 mutation p.Pro250Arg		134934	Muenke syndrome	MNKES	602849	SEQ	F	Syndro
FH		136850	Fumarase deficiency	Fumaric aciduria	606812	SEQ, MLPA, NGS	F	Meta
FH		136850	Hereditary leiomyomatosis and renal cell cancer	HLRCC	150800	SEQ, MLPA, NGS	F	Tumor
FH		136850	Hereditary leiomyomatosis and renal cell cancer	HLRCC	150800	SEQ, MLPA, NGS	F	Kidney
FHL1		300163	Emery-Dreifuss muscular dystrophy type 6, X-linked Typ 6	EDMD6	300696	SEQ, NGS	F	Neuro
FHL1		300163	X-linked reducing body myopathy-1 with infantile or early childhood onset	RBMX1A	300717	SEQ, NGS	F	Neuro
FHL1		300163	X-linked reducing body myopathy-1 with late childhood or adult onset	RBMX1B	300718	SEQ, NGS	F	Neuro
FIG4		609390	Amyotrophic lateral sclerosis type 11	ALS11	612577	SEQ, NGS	F	Neuro
FIG4		609390	Charcot-Marie-Tooth neuropathy type 4J	CMT4J	611228	SEQ, NGS	F	Neuro
FKBP10	FK506	607063	Osteogenesis imperfecta, type XI	OI11	610968	SEQ, NGS	F	Tissue
FKRP		606596	Muscular dystrophy, congenital, 1C	MDC1C	606612	SEQ, MLPA, NGS	F	Neuro
FKRP		606596	Muscular dystrophy, limb-girdle, type 2I	LGMD2I	607155	SEQ, MLPA, NGS	F	Neuro
FLCN		607273	Birt-Hogg-Dubé syndrome	BHD	135150	SEQ, MLPA, NGS	F	Neuro
FOXC1		601090	Anterior segment dysgenesis, type 3	ASGD3	601631	SEQ, MLPA, NGS	F	Sensory
FOXC1		601090	Axenfeld-Rieger syndrome type 3	RIEG3	602482	SEQ, MLPA, NGS	F	Sensory
FOXG1		164874	Rett syndrome, congenital variant		613454	SEQ, MLPA, NGS	F	Syndro
FOXL2		605597	Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2	BPES	110100	SEQ, MLPA, NGS	F	Syndro
FOXL2		605597	Premature ovarian failure type 3	POF3	608996	SEQ, MLPA, NGS	F	Syndro
FTL		134790	Hyperferritinemia-cataract syndrome		600886	SEQ, NGS	F	Meta
FTL		134790	Hyperferritinemia-cataract syndrome		600886	SEQ, NGS	F	Sensory
FTL		134790	Hyperferritinemia-cataract syndrome		600886	SEQ, NGS	F	Syndro
FTL		134790	L-Ferritin deficiency	LFTD	615604	SEQ, NGS	F	Meta
FTL		134790	Neurodegeneration with brain iron accumulation, type 3	NBIA3	606159	SEQ, NGS	F	Neuro
FUS		137070	Amyotrophic lateral sclerosis type 6, with or without frontotemporal dementia	ALS6	608030	SEQ, NGS	F	Neuro
FUS		137070	Tremor, hereditary essential type 4	ETM4	614782	SEQ, NGS	F	Neuro
FXN repeat		606829	Friedreich ataxia	Friedreich disease, FRDA	229300	REP	F	Neuro
GALT		606999	Galactosemia	GALAC1	230400	SEQ, MLPA, NGS	G	Meta
GAN		605379	Neuropathy with giant axonal swelling, type 1	Giant Axonal Neuropathy 1, GAN1	256850	SEQ, NGS	G	Neuro
GANAB		104160	Polycystic kidney disease type 3	PKD3	600666	SEQ, NGS	G	Kidney
GANAB		104160	Polycystic kidney disease type 3	PKD3	600666	SEQ, NGS	G	Syndro
GARS1	GARS	600287	Charcot-Marie-Tooth neuropathy type 2D	CMT2D, HMSN2D	601472	SEQ, MLPA, NGS	G	Neuro
GATA5		611496	Congenital heart defects, multiple types, 5		617912	SEQ, NGS	G	Tissue
GBE1		607839	Glycogen storage disease IV	GSD4, Andersen disease	232500	SEQ, NGS	G	Meta
GCH1	DYT5A	600225	DOPA-responsive dystonia, autosomal dominant	DRD, Segawa syndrome	128230	SEQ, MLPA, NGS	G	Neuro
GCK		138079	Hyperinsulinemic hypoglycemia, familial, type 3	HHF3, hyperinsulinism, familial type 3	602485	SEQ, MLPA, NGS	G	Meta
GCK		138079	Maturity-onset diabetes of the young, type 2	MODY2	125851	SEQ, MLPA, NGS	G	Meta
GDAP1		606598	Charcot-Marie-Tooth neuropathy type 4A	CMT4A	214400	SEQ, MLPA, NGS	G	Neuro
GDAP1		606598	Charcot-Marie-Tooth neuropathy, axonal, type 2K	CMT2K	607831	SEQ, MLPA, NGS	G	Neuro
GDAP1		606598	Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis		607706	SEQ, MLPA, NGS	G	Neuro
GDF2		605120	Telangiectasia, hereditary hemorrhagic, type 5	HHT5	615506	SEQ, NGS	G	Tissue
GDF3		606522	Klippel-Feil syndrome 3, autosomal dominant	KFS3	613702	SEQ, NGS	G	Syndro
GDF3		606522	Microphthalmia with coloboma 6	MCOPCB6	613703	SEQ, NGS	G	Syndro
GDF3		606522	Microphthalmia, isolated 7	MCOP7	613704	SEQ, NGS	G	Syndro
GDF5		601146	Acromesomelic dysplasia, Hunter-Thompson type	AMDH	201250	SEQ, NGS	G	Tissue
GDF5		601146	Brachydactyly, type C	BDC, Haws type	113100	SEQ, NGS	G	Tissue
GDF5		601146	Chondrodysplasia, Grebe type		200700	SEQ, NGS	G	Tissue
GDF5		601146	Du Pan syndrome	fibular hypoplasia and complex brachydactyly	228900	SEQ, NGS	G	Tissue
GDF6		601147	Klippel-Feil syndrome 1, autosomal dominant	KFS1	118100	SEQ, NGS	G	Syndro
GDF6		601147	Leber congenital amaurosis type 17	LCA17	615360	SEQ, NGS	G	Sensory
GDF6		601147	Microphthalmia, isolated 4	MCOP4	613094	SEQ, NGS	G	Syndro
GFAP		137780	Alexander disease		203450	SEQ, NGS	G	Neuro
GJB1	Connexin 32	304040	Charcot-Marie-Tooth neuropathy type X	CMTX, HMSNX	302800	SEQ, MLPA, NGS	G	Neuro
GJB2	Connexin 26	121011	Deafness, autosomal recessive, type 1A	DFNB1A	220290	SEQ, MLPA, NGS	G	Sensory
GJB3	Connexin 31	603324	Deafness, autosomal dominant, type 2B	DFNA2B	612644	SEQ, MLPA, NGS	G	Sensory
GJB6, only CNV	Connexin 30	604418	Deafness, autosomal recessive, type 1B	DFNB1B	612645	MLPA	G	Sensory
GLA		300644	Fabry disease		301500	SEQ, MLPA, NGS	G	Meta
GLI3		165240	Greig cephalopolysyndactyly syndrome	Polysyndactyly with peculiar skull shape	175700	SEQ, NGS	G	Syndro
GLI3		165240	Pallister-Hall syndrome	hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly	146510	SEQ, NGS	G	Syndro
GLI3		165240	Postaxial polydactyly type A1 and type B	PAPA1 (PAPB included)	174200	SEQ, NGS	G	Syndro
GLI3		165240	Preaxial polydactyly type IV	Polysyndactyly, uncomplicated	174700	SEQ, NGS	G	Syndro
GLMN		601749	Glomuvenous malformations	glomangiomas	138000	SEQ, NGS	G	Tumor
GLUD1		138130	Hyperinsulinemic hypoglycemia, familial, type 6	HHF6, Hyperinsulinism-hyperammonemia syndrome	606762	SEQ, NGS	G	Meta
GLUD1		138130	Hyperinsulinemic hypoglycemia, familial, type 6	HHF6, Hyperinsulinism-hyperammonemia syndrome	606762	SEQ, NGS	G	Path
GNAS		139320	Albright hereditary osteodystrophy, Pseudohypoparathyroidism type Ia	PHP1A	103580	SEQ, MLPA, NGS	G	Tissue
GNAS		139320	Osseous heteroplasia, progressive	POH	166350	SEQ, MLPA, NGS	G	Tissue
GNAS		139320	Pseudohypoparathyroidism type 1A	PHP1A	103580	SEQ, MLPA, NGS	G	Meta
GNAS		139320	Pseudohypoparathyroidism type 1B	PHP1B	603233	SEQ, MLPA, NGS	G	Meta
GNAS		139320	Pseudohypoparathyroidism type 1C	PHP1C	612462	SEQ, MLPA, NGS	G	Meta
GNAS		139320	Pseudopseudohypoparathyroidism	PPHP	612463	SEQ, MLPA, NGS	G	Meta
GNAS somatic mutations		139320	ACTH-independent macronodular adrenal hyperplasia	AIMAH1	219080	SEQ, MLPA, NGS	G	Kidney
GNAS somatic mutations		139320	ACTH-independent macronodular adrenal hyperplasia	AIMAH1	219080	SEQ, MLPA, NGS	G	Tumor
GNRH1		152760	Hypogonadotropic hypogonadism with or without anosmia 12	HH12	614841	SEQ, MLPA, NGS	G	Syndro
GNRHR		138850	Hypogonadotropic hypogonadism with or without anosmia 7	HH7, idiopathic hypogonadotropic hypogonadism	146110	SEQ, MLPA, NGS	G	Syndro
GNS		607664	Mucopolysaccharidosis type IIID, Sanfilippo syndrome D	MPS IIID	252940	SEQ, NGS	G	Meta
GPD1L		611778	Brugada syndrome type 2	BRGDA2	611777	SEQ, NGS	G	Cardio
GPR143	OA1 gene	300808	Ocular albinism, type 1	OA1, Nettleship-Falls type	300500	SEQ, MLPA, NGS	G	Meta
GREM1 only CNV-analysis		603054	Hereditary mixed polyposis syndrome type 1	HMPS1	601228	MLPA, NGS	G	Tumor
GRHL3		608317	Van der Woude syndrome type 2	VWS2	606713	SEQ, MLPA, NGS	G	Syndro
GRN	PGRN	138945	Aphasia, primary progressive	PPA	607485	SEQ, MLPA, NGS	G	Neuro
GRN	PGRN	138945	Frontotemporal lobar degeneration with TDP43 inclusions	FTLD-TDP, Frontotemporal dementia, ubiquitin-positive, FTDU	607485	SEQ, MLPA, NGS	G	Neuro
HADH		601609	3-hydroxyacyl-CoA dehydrogenase deficiency	HADH Deficiency	231530	SEQ, NGS	H	Meta
HADH		601609	Hyperinsulinemic hypoglycemia, familial, type 4	HHF4, hyperinsulinism, familial type 4	609975	SEQ, NGS	H	Meta
HADHA		600890	Mitochondrial trifunctional protein deficiency	MTPD	609015	SEQ, NGS	H	Meta
HBB		141900	Sickle cell anemia	HBS	603903	SEQ, MLPA, NGS	H	Coagul
HBB		141900	Thalassemia, beta	beta hemoglobinopathy	613985	SEQ, MLPA, NGS	H	Coagul
HCN4		605206	Brugada syndrome type 8	BRGDA8	613123	SEQ, NGS	H	Cardio
HCN4		605206	Sick sinus syndrome 2	SSS2, autosomal dominant	163800	SEQ, NGS	H	Cardio
HCRT		602358	Narcolepsy type 1	NRCLP1	161400	SEQ, NGS	H	Neuro
HEXA		606869	Tay-Sachs disease		272800	SEQ, MLPA, NGS	H	Meta
HFE exon 2 and exon 4		613609	Hemochromatosis		235200	SEQ	H	Meta
HGSNAT		610453	Mucopolysaccharidosis type IIIC, Sanfilippo syndrome C	MPS IIIC	252930	SEQ, NGS	H	Meta
HGSNAT		610453	Retinitis pigmentosa 73	RP73	616544	SEQ, NGS	H	Sensory
HLA-B27		142830	Spondyloarthropathy, susceptibility to, 1,	SPDA1, Bechterew syndrome	106300	SEQ	H	Meta
HLA-DQA1 and-DQB1, analysis of risk-alleles encoding HLA-DQ2 and -DQ8 only		146880, 604305	Celiac disease, susceptibility		212750	SEQ	H	Meta
HLA-DQB1*0602 allele		604305	Narcolepsy, association		161400	SEQ	H	Neuro
HMBS		609806	Porphyria, acute intermittent	AIP	176000	SEQ, MLPA, NGS	H	Meta
HMBS		609806	Porphyria, acute intermittent, nonerythroid variant	AIP	176000	SEQ, MLPA, NGS	H	Meta
HNF1A	TCF1	142410	Maturity-onset diabetes of the young, type 3	MODY3	600496	SEQ, MLPA, NGS	H	Meta
HNF1B	TCF2	189907	Maturity-onset diabetes of the young, type 5	MODY5	137920	SEQ, MLPA, NGS	H	Meta
HNF4A		600281	Maturity-onset diabetes of the young, type 1	MODY1	125850	SEQ, MLPA, NGS	H	Meta
HOXD13		142989	Brachydactyly, type D	BDD	113200	SEQ, MLPA, NGS	H	Tissue
HOXD13		142989	Brachydactyly, type E	BDE1	113300	SEQ, MLPA, NGS	H	Tissue
HOXD13		142989	Brachydactyly-syndactyly syndrome	Zhao type, BDSD	610713	SEQ, MLPA, NGS	H	Tissue
HOXD13		142989	Syndactyly type V	Syndactyly with metacarpal and metatarsal fusion	186300	SEQ, MLPA, NGS	H	Tissue
HOXD13		142989	Synpolydactyly type I	SPD1, syndactyly type II according to Temtamy and McKusick [PMID: 215242]	186000	SEQ, MLPA, NGS	H	Tissue
HOXD13		142989	Synpolydactyly with anomalies of the foot		186000	SEQ, MLPA, NGS	H	Tissue
HPRT1		308000	Kelley-Seegmiller syndrome	HPRT-related gout/hyperuricemia	300323	SEQ, MLPA, NGS	H	Meta
HPRT1		308000	Lesch-Nyhan syndrome		300322	SEQ, MLPA, NGS	H	Meta
HRAS		190020	Costello syndrome	Faciocutaneoskeletal (FCS) syndrome	218040	SEQ, NGS	H	Syndro
HSD3B2		613890	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	3-beta-HSD deficiency, HSDB	201810	SEQ, NGS	H	Meta
HSPB1		602195	Charcot-Marie-Tooth neuropathy, axonal, type 2F	CMT2F	606595	SEQ, MLPA, NGS	H	Neuro
HSPB1		602195	Neuropathy, distal hereditary motor, type IIB	HMN2B	608634	SEQ, MLPA, NGS	H	Neuro
HSPB8		608014	Charcot-Marie-Tooth neuropathy, axonal, type 2L	CMT2L	608673	SEQ, MLPA, NGS	H	Neuro
HSPB8		608014	Neuropathy, distal hereditary motor, type IIA	HMN2A	158590	SEQ, MLPA, NGS	H	Neuro
HTR1A promoter mutation -480delA		109760	Periodic fever, menstrual cycle-dependent	PMFC	614674	SEQ	H	Fever
HTRA1		602194	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	CADASIL2	616779	SEQ, NGS	H	Neuro
HTRA1		602194	cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy	CARASIL , Maeda syndrome	600142	SEQ, NGS	H	Neuro
HTT repeat		613004	Huntington disease	HD, Huntington chorea	143100	REP	H	Neuro
ICOS		604558	Immunodeficiency, common variable, type 1	CVID1, antibody deficiency due to icos defect	607594	SEQ, NGS	I	Meta
IDUA		252800	Mucopolysaccharidosis type IH, Hurler syndrome	MPS1-H	607014	SEQ, NGS	I	Meta
IDUA		252800	Mucopolysaccharidosis type IH/S, Hurler-Scheie syndrome	MPS1-H/S	607015	SEQ, NGS	I	Meta
IDUA		252800	Mucopolysaccharidosis type IS, Scheie syndrome	MPS1-S	607016	SEQ, NGS	I	Meta
IHH		600726	Brachydactyly, type A1	Farabee brachydactyly	112500	SEQ, NGS	I	Tissue
IRF6		607199	Popliteal pterygium syndrome	PPS	119500	SEQ, MLPA, NGS	I	Syndro
IRF6		607199	Van der Woude syndrome type 1	VWS1	119300	SEQ, MLPA, NGS	I	Syndro
ITPR1		147265	Gillespie syndrome	GLSP	206700	SEQ, MLPA, NGS	I	Neuro
ITPR1		147265	Spinocerebellar ataxia type 15	SCA15	606658	SEQ, MLPA, NGS	I	Neuro
ITPR1		147265	Spinocerebellar ataxia type 29	SCA29	117360	SEQ, MLPA, NGS	I	Neuro
JPH3 repeat		605268	Huntington disease-like 2	HDL2	606438	REP	J	Neuro
KCNA1		176260	Episodic ataxia type 1	Episodic ataxia with myokymia	160120	SEQ, MLPA, NGS	K	Neuro
KCND3		605411	Brugada syndrome type 9	BRGDA9	616399	SEQ, NGS	K	Cardio
KCND3		605411	Spinocerebellar ataxia type 19	SCA19	607346	SEQ, NGS	K	Neuro
KCNE1		176261	Jervell and Lange-Nielsen syndrome type 2	JLNS2	612347	SEQ, MLPA, NGS	K	Cardio
KCNE1		176261	Long QT syndrome 5	LQT5	613695	SEQ, MLPA, NGS	K	Cardio
KCNE2		603796	Atrial fibrillation, familial, 4	ATFB4	611493	SEQ, MLPA, NGS	K	Cardio
KCNE2		603796	Long QT syndrome 6	LQT6	613693	SEQ, MLPA, NGS	K	Cardio
KCNE3		604433	Brugada syndrome type 6	BRGDA6	613119	SEQ, NGS	K	Cardio
KCNH2		152427	Long QT syndrome 2	LQT2, Romano-Ward syndrome 2	613688	SEQ, MLPA, NGS	K	Cardio
KCNH2		152427	Short QT syndrome 1	SQT1	609620	SEQ, MLPA, NGS	K	Cardio
KCNJ11	Kir6.2	600937	Hyperinsulinemic hypoglycemia, familial, type 2	HHF2, hyperinsulinism, familial type 2	601820	SEQ, NGS	K	Meta
KCNJ18		613236	Thyrotoxic periodic paralysis type 2	TTPP2	613239	SEQ, NGS	K	Neuro
KCNJ2		600681	Andersen-Tawil syndrome	ATS, LQT7, periodic paralysis + ventricular arrhythmias + distinctive dysmorphic facial or skeletal features	170390	SEQ, MLPA, NGS	K	Cardio
KCNJ2		600681	Long QT syndrome 7	LQT7, Anderson-Tawil syndrome	170390	SEQ, MLPA, NGS	K	Cardio
KCNJ2		600681	Short QT syndrome 3	SQT3	609622	SEQ, MLPA, NGS	K	Cardio
KCNQ1		607542	Jervell and Lange-Nielsen syndrome type 1	JLNS1, prolongation of the QT interval + congenital deafness	220400	SEQ, MLPA, NGS	K	Cardio
KCNQ1		607542	Long QT syndrome 1	LQT1, Romano-Ward syndrome 1	192500	SEQ, MLPA, NGS	K	Cardio
KCNQ1		607542	Short QT syndrome 2	SQT2	609621	SEQ, MLPA, NGS	K	Cardio
KCNV2		607604	Retinal cone dystrophy type 3B	RCD3B	610356	SEQ, NGS	K	Sensory
KIF11		148760	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	MCLMR	152950	SEQ, NGS	K	Syndro
KIF21A		608283	Congenital fibrosis of extraocular muscles type 1	CFEOM1	135700	SEQ, NGS	K	Sensory
KIF21A		608283	Congenital fibrosis of extraocular muscles type 3B	CFEOM3B	135700	SEQ, NGS	K	Sensory
KIF5A		602821	Spastic paraplegia type 10, autosomal dominant,	SPG10	604187	SEQ, NGS	K	Neuro
KISS1R		604161	Hypogonadotropic hypogonadism with or without anosmia 8	HH8	614837	SEQ, MLPA, NGS	K	Syndro
KISS1R		604161	Precocious puberty, central,	CPPB1	176400	SEQ, MLPA, NGS	K	Syndro
KLF1		600599	Blood group-Lutheran inhibitor, dominant LU(a-b-) phenotype	INLU	111150	SEQ, NGS	K	Coagul
KLF1		600599	Dyserythropoietic anemia, congenital, type IV	CDAN4	613673	SEQ, NGS	K	Coagul
KLF1		600599	Hereditary persistence of fetal hemoglobin type 6	HBFQTL6	613566	SEQ, NGS	K	Coagul
KRAS		190070	Cardiofaciocutaneous syndrome 2	CFC2	615278	SEQ, NGS	K	Syndro
KRAS		190070	Noonan syndrome 3	NS3	609942	SEQ, NGS	K	Syndro
L1CAM		308840	CRASH syndrome	Corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus	303350	SEQ, MLPA, NGS	L	Syndro
L1CAM		308840	Hydrocephalus, X-linked	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	307000	SEQ, MLPA, NGS	L	Syndro
L1CAM		308840	Mental retardation, aphasia, shuffling gait, and adducted thumbs	MASA syndrome	303350	SEQ, MLPA, NGS	L	Syndro
L1CAM		308840	Spastic paraplegia type 1, X-linked,	SPG1	303350	SEQ, MLPA, NGS	L	Neuro
LCT c.1-13910T/C		603202	Lactose intolerance		223100	SEQ	L	Meta
LCT complete gene		603202	Lactase deficiency, congenital	alactasia, congenital	223000	SEQ, MLPA, NGS	L	Meta
LDLR		606945	Hypercholesterolemia, familial, type 1	FHCL1, Hyperlipoproteinemia, type IIA	143890	SEQ, MLPA, NGS	L	Meta
LDLRAP1		605747	Hypercholesterolemia, familial, type 4	FHCL4, autosomal recessive	603813	SEQ, NGS	L	Meta
LEP		164160	Obesity, morbid, due to leptin deficiency		614962	SEQ, MLPA, NGS	L	Meta
LEPR		601007	Obesity, morbid, due to leptin receptor deficiency		614963	SEQ, MLPA, NGS	L	Meta
LITAF		603795	Charcot-Marie-Tooth neuropathy type 1C	CMT1C, HMSN1C	601098	SEQ, NGS	L	Neuro
LMNA		150330	Cardiomyopathy, dilated, 1A	CMD1A	115200	SEQ, MLPA, NGS	L	Cardio
LMNA		150330	Charcot-Marie-Tooth neuropathy type 2B1	CMT2B1, HMSN2B1	605588	SEQ, MLPA, NGS	L	Neuro
LMNA	Lamin-A/C	150330	Emery-Dreifuss muscular dystrophy type 2, autosomal dominant		181350	SEQ, MLPA, NGS	L	Neuro
LMNA	Lamin-A/C	150330	Emery-Dreifuss muscular dystrophy type 3, autosomal recessive		616516	SEQ, MLPA, NGS	L	Neuro
LMNA		150330	Hutchinson-Gilford progeria syndrome, childhood-onset		176670	SEQ, MLPA, NGS	L	Syndro
LMNA		150330	Lipodystrophy, familial partial, type 2	FPLD2, Lipodystrophy type Dunnigan	151660	SEQ, MLPA, NGS	L	Meta
LMNA		150330	Lipodystrophy, familial partial, type 2	FPLD2, Lipodystrophy type Dunnigan	151660	SEQ, MLPA, NGS	L	Syndro
LMNA		150330	Mandibuloacral dysplasia with type a lipodystrophy	MADA	248370	SEQ, MLPA, NGS	L	Syndro
LMNA		150330	Muscular dystrophy, limb-girdle, type 1B	LGMD1B	159001	SEQ, MLPA, NGS	L	Neuro
LMNA		150330	Werner syndrome, atypical			SEQ, MLPA, NGS	L	Syndro
LMNB2		150341	Lipodystrophy, partial, acquired, susceptibility	APLD, Barraquer-Simons syndrome	608709	SEQ, NGS	L	Meta
LMX1B	NPS1	602575	Nail-patella syndrome	NPS, Turner-Kieser syndrome, Fong disease	161200	SEQ, MLPA, NGS	L	Syndro
LRP6		603507	Coronary artery disease, autosomal dominant, 2	ADCAD2	610947	SEQ, NGS	L	Cardio
LRRK2		609007	Parkinson disease, autosomal dominant, type 8	PARK8	607060	SEQ, MLPA, NGS	L	Neuro
LYST	CHS1	606897	Chediak-Higashi syndrome	CHS	214500	SEQ, NGS	L	Syndro
MAPT		157140	Frontotemporal dementia	FTD	600274	SEQ, MLPA, NGS	M	Neuro
MAPT		157140	Frontotemporal dementia with parkinsonism	Multiple system tauopathy with presenile dementia, FTD17	600274	SEQ, MLPA, NGS	M	Neuro
MAPT		157140	Pick disease of brain	Dementia with lobar atrophy and neuronal cytoplasmic inclusions	172700	SEQ, MLPA, NGS	M	Neuro
MAT1A		610550	Methionine adenosyltransferase deficiency	Hypermethioninemia	250850	SEQ, NGS	M	Meta
MAX		154950	Pheochromocytoma	PCC	171300	SEQ, MLPA, NGS	M	Kidney
MAX		154950	Pheochromocytoma	PCC	171300	SEQ, MLPA, NGS	M	Tumor
MAX		154950	Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SEQ, MLPA, NGS	M	Tumor
MAX		154950	Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SEQ, MLPA, NGS	M	Kidney
MC4R		155541	Obesity		601665	SEQ, MLPA, NGS	M	Meta
MECP2		300005	Encephalopathy, neonatal severe		300673	SEQ, MLPA, NGS	M	Syndro
MECP2		300005	Mental retardation, X-linked syndromic, Lubs type	MRXSL	300260	SEQ, MLPA, NGS	M	Syndro
MECP2		300005	Mental retardation, X-linked, syndromic 13	MRX13	300055	SEQ, MLPA, NGS	M	Syndro
MECP2		300005	Rett syndrome		312750	SEQ, MLPA, NGS	M	Syndro
MEFV		608107	Familial mediterranean fever, dominant or recessive	FMF, autosomal dominant /autosomal recessive	134610 / 249100	SEQ, MLPA, NGS	M	Fever
MEN1		613733	Multiple endocrine neoplasia type 1	MEN1	131100	SEQ, MLPA, NGS	M	Tumor
MEOX1		600147	Klippel-Feil syndrome 2, autosomal recessive	KFS2	214300	SEQ, NGS	M	Syndro
MESP2		605195	Spondylocostal dysostosis 2, autosomal recessive	SCDO2	608681	SEQ, NGS	M	Tissue
MET		64860	Renal cell carcinoma, papillary, 1, familial and somatic	RCCP1	605074	SEQ, NGS	M	Tumor
MET1		64860	Renal cell carcinoma, papillary, 1, familial and somatic	RCCP1	605074	SEQ, NGS	M	Kidney
MFAP5		601103	Thoracic aortic aneurysm type 9	AAT9	616166	SEQ, NGS	M	Tissue
MFN2		608507	Charcot-Marie-Tooth neuropathy type 2A2	CMT2A2, HMSN2A2	609260	SEQ, MLPA, NGS	M	Neuro
MITF		156845	Tietz albinism-deafness syndrome		103500	SEQ, MLPA, NGS	M	Syndro
MITF		156845	Waardenburg syndrome type 2A	WS2A	193510	SEQ, MLPA, NGS	M	Syndro
MLH1		120436	Hereditary nonpolyposis colorectal cancer type II	HNPCC, Lynch syndrome	609310	SEQ, MLPA, NGS	M	Tumor
MNX1		142994	Currarino syndrom		176450	SEQ, NGS	M	Syndro
MOG		159465	Narcolepsy type 7	NRCLP7	614250	SEQ, NGS	M	Neuro
MPZ	P0	159440	Charcot-Marie-Tooth neuropathy type 1B	CMT1B, HMSN1B	118200	SEQ, MLPA, NGS	M	Neuro
MPZ	P0	159440	Charcot-Marie-Tooth neuropathy type 2I	CMT2I, HMSN2I	607677	SEQ, MLPA, NGS	M	Neuro
MPZ	P0	159440	Charcot-Marie-Tooth neuropathy type 2J	CMT2J, HMSN2J	607736	SEQ, MLPA, NGS	M	Neuro
MSH2		609309	Hereditary nonpolyposis colorectal cancer type I	HNPCC, Lynch syndrome	120435	SEQ, MLPA, NGS	M	Tumor
MSH3		600887	Familial adenomatous polyposis coli, familial polyposis of the colon, type 4	FAP4	617100	SEQ, NGS	M	Tumor
MSH6		600678	Hereditary nonpolyposis colorectal cancer type V	HNPCC, Lynch syndrome	614350	SEQ, MLPA, NGS	M	Tumor
MSX1		142983	Hypodontia/oligodontia type 1	Tooth agenesis, selective, with or without orofacial cleft, STHAG1	106600	SEQ, NGS	M	Syndro
MSX1		142983	Orofacial cleft type 5		608874	SEQ, NGS	M	Syndro
MSX1		142983	Witkop syndrome	Nail dysplasia with hypodontia	189500	SEQ, NGS	M	Syndro
MT-ATP6		516060	Leber hereditary optic neuropathy	LHON	535000	SEQ, NGS	M	Sensory
MT-ATP6		516060	Leigh syndrome		256000	SEQ, NGS	M	Neuro
MT-ATP6		516060	NARP	Neuropathy, Ataxia, retinitis pigmentosa	551500	SEQ, NGS	M	Neuro
MTHFR		607093	Methylenetetrahydrofolate reductase deficiency	Homocystinuria due to MTHFR deficiency	236250	SEQ, NGS	M	Meta
MTHFR c.677C>T and c.1298A>C		607093	Homocystinuria due to MTHFR deficiency		236250	SEQ	M	Coagul
MTM1		300415	Myotubular myopathy/ centronuclear myopathy, X-chromosomal-recessive	CNMX	310400	SEQ, NGS	M	Neuro
MTMR2		603557	Charcot-Marie-Tooth neuropathy type 4B1	CMT4B1	601382	SEQ, MLPA, NGS	M	Neuro
MT-ND1		516000	Leber hereditary optic neuropathy	LHON	535000	SEQ, NGS	M	Sensory
MT-ND1		516000	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	MELAS	540000	SEQ, NGS	M	Neuro
MT-ND3		516002	Leber hereditary optic neuropathy	LHON	535000	SEQ, NGS	M	Sensory
MT-ND4		516003	Leber hereditary optic neuropathy	LHON	535000	SEQ, NGS	M	Sensory
MT-ND4L		516004	Leber hereditary optic neuropathy	LHON	535000	SEQ, NGS	M	Sensory
MT-ND5		516005	Leber hereditary optic neuropathy	LHON	535000	SEQ, NGS	M	Sensory
MT-ND5		516005	Leigh syndrome		256000	SEQ, NGS	M	Neuro
MT-ND5		516005	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	MELAS	540000	SEQ, NGS	M	Neuro
MT-ND5		516005	Myoclonic epilepsy associated with ragged-red fibers	MERRF	545000	SEQ, NGS	M	Neuro
MT-ND6		516006	Leber hereditary optic neuropathy	LHON	535000	SEQ, NGS	M	Sensory
MT-ND6		516006	Leigh syndrome		256000	SEQ, NGS	M	Neuro
MT-ND6		516006	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	MELAS	540000	SEQ, NGS	M	Neuro
MT-TH		590040	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	MELAS	540000	SEQ, NGS	M	Neuro
MT-TH		590040	Myoclonic epilepsy associated with ragged-red fibers	MERRF	545000	SEQ, NGS	M	Neuro
MT-TK		590060	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	MELAS	540000	SEQ, NGS	M	Neuro
MT-TK		590060	Myoclonic epilepsy associated with ragged-red fibers	MERRF	545000	SEQ, NGS	M	Neuro
MT-TL1		590050	Leber hereditary optic neuropathy	LHON	535000	SEQ, NGS	M	Sensory
MT-TL1		590050	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	MELAS	540000	SEQ, NGS	M	Neuro
MT-TL1		590050	Myoclonic epilepsy associated with ragged-red fibers	MERRF	545000	SEQ, NGS	M	Neuro
MTTP	MTP	157147	Abetalipoproteinemia	Acanthocytosis, Bassen-Kornzweig-syndrome	200100	SEQ, NGS	M	Neuro
MT-TS2		590085	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	MELAS	540000	SEQ, NGS	M	Neuro
MT-TS2		590085	Myoclonic epilepsy associated with ragged-red fibers	MERRF	545000	SEQ, NGS	M	Neuro
MUTYH		604933	Attenuated familial adenomatous polyposis	AFAP	175100	SEQ, MLPA, NGS	M	Tumor
MUTYH		604933	MUTYH-associated polyposis	MAP	608456	SEQ, MLPA, NGS	M	Tumor
MVK		251170	Hyper-IgD syndrome	HIDS, hyperimmunoglobulinemia D and periodic fever, mevalonat kinase deficiency	260920	SEQ, NGS	M	Fever
MVK		251170	Mevalonic aciduria	MEVA	610377	SEQ, NGS	M	Meta
MVK		251170	Porokeratosis type 3, actinic disseminated superficial	POROK3	175900	SEQ, NGS	M	Geno
MYBPC3		600958	Cardiomyopathy, dilated, 1MM	CMD1MM	615396	SEQ, MLPA, NGS	M	Cardio
MYBPC3		600958	Cardiomyopathy, familial hypertrophic 4	CMH4	115197	SEQ, MLPA, NGS	M	Cardio
MYH11		160745	Thoracic aortic aneurysm type 4	AAT4, FAA4	132900	SEQ, MLPA, NGS	M	Tissue
MYH7		160760	Cardiomyopathy, dilated, 1S	CMD1S	613426	SEQ, MLPA, NGS	M	Cardio
MYH7		160760	Cardiomyopathy, familial hypertrophic 1	CMH1	192600	SEQ, MLPA, NGS	M	Cardio
MYL2		160781	Cardiomyopathy, familial hypertrophic 10	CMH10	608758	SEQ, NGS	M	Cardio
MYL3		160790	Cardiomyopathy, familial hypertrophic 8	CMH8	608751	SEQ, NGS	M	Cardio
MYLK		600922	Thoracic aortic aneurysm type 7	AAT7	613780	SEQ, NGS	M	Tissue
MYORG		618255	Basal ganglia calcification, idiopathic, 7, autosomal recessive	IBGC7	618317	SEQ, NGS	M	Neuro
NAGLU		609701	Mucopolysaccharidosis type IIIB, Sanfilippo syndrome B	MPS IIIB	252920	SEQ, NGS	N	Meta
NAGS		608300	N-acetylglutamate synthase deficiency	NAGS deficiency	237310	SEQ, NGS	N	Meta
NAGS		608300	N-acetylglutamate synthase deficiency	NAGS deficiency	237310	SEQ, NGS	N	Path
NBN	NBS1	602667	Nijmegen breakage syndrome	NBS	251260	SEQ, NGS	N	Tumor
NEFL	NF68	162280	Charcot-Marie-Tooth neuropathy type 1F	CMT1F, HMSN1F	607734	SEQ, MLPA, NGS	N	Neuro
NEFL	NF68	162280	Charcot-Marie-Tooth neuropathy type 2E	CMT2E, HMSN2E	607684	SEQ, MLPA, NGS	N	Neuro
NF1		613113	Neurofibromatosis type 1	NF1	162200	SEQ, MLPA, NGS	N	Tumor
NF2		607379	Neurofibromatosis type 2	NF2	101000	SEQ, MLPA, NGS	N	Tumor
NFXL1			Specific language impairment	SLI		SEQ, NGS	N	Syndro
NIPA1		608145	Spastic paraplegia type 6, autosomal dominant	SPG6	600363	SEQ, MLPA, NGS	N	Neuro
NIPBL		608667	Cornelia de Lange syndrome 1	CDLS1	122470	SEQ, MLPA, NGS	N	Syndro
NKX2-1		600635	Benign hereditary Chorea	BHC	118700	SEQ, MLPA, NGS	N	Neuro
NKX2-1		600635	Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction	CAHTP, brain-lung-thyroid syndrome	610978	SEQ, MLPA, NGS	N	Neuro
NLRP3		606416	Cryopyrin-associated periodic syndrome 3	CAPS3, CINCA syndrome	607115	SEQ, NGS	N	Fever
NLRP3		606416	Familial cold autoinflammatory syndrome	FCAS, cryopyrin-associated periodic syndrome 1, CAPS1	120100	SEQ, NGS	N	Fever
NLRP3		606416	Muckle-Wells syndrome	MWS, cryopyrin-associated periodic syndrome 2, CAPS2	191900	SEQ, NGS	N	Fever
NOTCH3		600276	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	CADASIL1	125310	SEQ, MLPA, NGS	N	Neuro
NOTCH3		600276	Myofibromatose, infantile, type 2	IMF2	615293	SEQ, MLPA, NGS	N	Neuro
NPC1		607623	Niemann-Pick disease, type C1	NPC1	257220	SEQ, MLPA, NGS	N	Meta
NPC2		601015	Niemann-Pick disease, type C2	NPC2	607625	SEQ, MLPA, NGS	N	Meta
NR5A1		184757	46XY sex reversal type 3	SRXY3, gonadal dysgenesis	612965	SEQ, MLPA, NGS	N	Syndro
NR5A1		184757	Premature ovarian failure 7	POF7	612964	SEQ, MLPA, NGS	N	Syndro
NR5A1		184757	Spermatogenic failure type 8	SPGF8	613957	SEQ, MLPA, NGS	N	Syndro
NRAS	NRAS1	64790	Noonan syndrome 6	NS6	613224	SEQ, NGS	N	Syndro
NSD1		606681	Sotos syndrome	cerebral gigantism	117550	SEQ, MLPA, NGS	N	Syndro
NTHL1		602656	Familial adenomatous polyposis coli, familial polyposis of the colon, type 3	FAP3	616415	SEQ, NGS	N	Tumor
OCA2	P gene, pink-eyed dilution	611409	Albinism, oculocutaneous, type 2	OCA2	203200	SEQ, MLPA, NGS	O	Meta
OCRL		300535	Lowe syndrome	Oculocerebrorenal syndrome	309000	SEQ, NGS	O	Syndro
OFD1		300170	Joubert syndrome type 10	JBTS10	300804	SEQ, NGS	O	Syndro
OFD1		300170	Simpson-Golabi-Behmel syndrome, type 2	SGBS2	300209	SEQ, NGS	O	Syndro
OPA1		605290	Deafness-optic atrophy plus syndrome	dominant optic atrophy plus syndrome, DOA+	125250	SEQ, MLPA, NGS	O	Sensory
OPA1		605290	Optic atrophy	Kjer type, OPA1	165500	SEQ, MLPA, NGS	O	Sensory
OTC		300461	Ornithine transcarbamylase deficiency	Hyperammonemia due to OTC deficiency	311250	SEQ, MLPA, NGS	O	Meta
OTC		300461	Ornithine transcarbamylase deficiency	Hyperammonemia due to OTC deficiency	311250	SEQ, MLPA, NGS	O	Path
PABPN1 repeat		602279	Oculopharyngeal muscular dystrophy	OPMD	164300	REP	P	Neuro
PAFAH1B1	LIS1	601545	Lissencephaly type 1	LIS1	607432	SEQ, MLPA, NGS	P	Syndro
PAFAH1B1	LIS1	601545	Subcortical laminar heterotopia	SCLH	607432	SEQ, MLPA, NGS	P	Syndro
PAH		612349	Phenylketonuria	PKU, hyperphenylalaninemia	261600	SEQ, MLPA, NGS	P	Meta
PALB2	FANCN	610355	Breast cancer, susceptibility		114480	SEQ, MLPA, NGS	P	Tumor
PALB2		610355	Pancreatic cancer, susceptibility, type 3	PNCA3	613348	SEQ, MLPA, NGS	P	Tumor
PALLD		608092	Pancreatic cancer, susceptibility, type 1	PNCA1	606856	SEQ, NGS	P	Tumor
PANK2		606157	HARP syndrome	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	607236	SEQ, MLPA, NGS	P	Syndro
PANK2		606157	Neurodegeneration with brain iron accumulation, type 1	NBIA1, formerly Hallervorden-Spatz disease	234200	SEQ, MLPA, NGS	P	Neuro
PARK2	PRKN	602544	Parkinson disease, autosomal recessive, juvenile, type 2	PARK2	600116	SEQ, MLPA, NGS	P	Neuro
PARK7	DJ1	602533	Parkinson disease, autosomal recessive, early-onset, type 7	PARK7	606324	SEQ, MLPA, NGS	P	Neuro
PAX3		606597	Waardenburg syndrome type 1	WS1	193500	SEQ, MLPA, NGS	P	Syndro
PAX3		606597	Waardenburg syndrome, type 3	WS3, Klein-Waardenburg-Syndrom	148820	SEQ, MLPA, NGS	P	Syndro
PAX5		167414	Leukemia, acute lymphoblastic type 3, susceptibility	ALL3	615545	SEQ, NGS	P	Tumor
PAX6		607108	Aniridia	AN1, congenital cataract with late-onset corneal-dystrophy	106210	SEQ, MLPA, NGS	P	Sensory
PAX6		607108	Anterior segment dysgenesis, type 5	ASGD5	604229	SEQ, MLPA, NGS	P	Sensory
PAX6		607108	Foveal hypoplasia	FVH1	136520	SEQ, MLPA, NGS	P	Sensory
PAX6		607108	Optic nerve hypoplasia, bilateral	Optic nerve aplasia, bilateral	165550	SEQ, MLPA, NGS	P	Sensory
PAX9		167416	Tooth agenesis, selective, 3	STHAG3	604625	SEQ, NGS	P	Syndro
PCDH19		300460	Epilepsy, female-restricted with mental retardation	EFMR, Juberg-Hellman syndrome	300088	SEQ, MLPA, NGS	P	Epi
PCSK9		607786	Hypercholesterolemia, familial, 3	FHCL3	603776	SEQ, NGS	P	Meta
PDE4D		600129	Acrodysostosis type 2, with or without hormone resistance	ACRDYS2	614613	SEQ, NGS	P	Tissue
PDE6H		601190	Retinal cone dystrophy type 3A	RCD3A	610024	SEQ, NGS	P	Sensory
PDGFB		190040	Basal ganglia calcification, idiopathic, type 5, Fahr disease	IBGC5	615483	SEQ, NGS	P	Neuro
PDGFRB		173410	Basal ganglia calcification, idiopathic, type 4, Fahr disease	IBGC4	615007	SEQ, NGS	P	Neuro
PDGFRB		173410	Myofibromatose, infantile, type 1	IMF1	228550	SEQ, NGS	P	Neuro
PDX1	IPF1	600733	Maturity-onset diabetes of the young, type 4	MODY4	606392	SEQ, MLPA, NGS	P	Meta
PDYN		131340	Spinocerebellar ataxia type 23	SCA23	610245	SEQ, NGS	P	Neuro
PGM3		172100	Hyper-IgE syndrome, autosomal recessive	Immunodeficiency 23	615816	SEQ, NGS	P	Meta
PHF6		300414	Borjeson-Forssman-Lehmann syndrome	BFLS	301900	SEQ, MLPA, NGS	P	Syndro
PHOX2A	ARIX	602753	Congenital fibrosis of extraocular muscles type 2	CFEOM2	602078	SEQ, NGS	P	Sensory
PIGV		610274	Hyperphosphatasia with mental retardation syndrome 1	Mabry syndrome	239300	SEQ, NGS	P	Syndro
PIK3CA		171834	Cowden syndrome, type 5		615108	SEQ, NGS	P	Tumor
PINK1		608309	Parkinson disease, autosomal recessive, early-onset, type 6	PARK6	605909	SEQ, MLPA, NGS	P	Neuro
PITX2		601542	Anterior segment dysgenesis, type 4	ASGD4	137600	SEQ, MLPA, NGS	P	Sensory
PITX2		601542	Axenfeld-Rieger syndrome type 1	RIEG1	180500	SEQ, MLPA, NGS	P	Sensory
PKD1		601313	Polycystic kidney disease 1	PKD1	173900	SEQ, MLPA, NGS	P	Kidney
PKD1		601313	Polycystic kidney disease type 1	PKD1	173900	SEQ, MLPA, NGS	P	Syndro
PKD2		173910	Polycystic kidney disease 2	PKD2	613095	SEQ, MLPA, NGS	P	Kidney
PKD2		173910	Polycystic kidney disease type 2	PKD2	613095	SEQ, MLPA, NGS	P	Syndro
PKLR		609712	Adenosine triphosphate, elevated, of erythrocytes	pyruvate kinase hyperactivity	102900	SEQ, MLPA, NGS	P	Meta
PKLR		609712	Pyruvate kinase deficiency of erythrocyte		266200	SEQ, MLPA, NGS	P	Meta
PLA2G6		603604	Neurodegeneration with brain iron accumulation, type 2A	NBIA2A, infantile neuroaxonal dystrophy	256600	SEQ, MLPA, NGS	P	Neuro
PLA2G6		603604	Neurodegeneration with brain iron accumulation, type 2B	NBIA2B	610217	SEQ, MLPA, NGS	P	Neuro
PLA2G6		603604	Parkinson disease, autosomal recessive, adult-onset, type 14	PARK14, Dystonia-parkinsonismus	612953	SEQ, MLPA, NGS	P	Neuro
PLIN1		170290	Lipodystrophy, familial partial, type 4	FPLD4	613877	SEQ, NGS	P	Meta
PMP22		601097	Charcot-Marie-Tooth neuropathy type 1A	CMT1A, HMSN1A	118220	SEQ, MLPA, NGS	P	Neuro
PMP22		601097	Charcot-Marie-Tooth neuropathy type 1E	CMT1E, HMSN1E	118300	SEQ, MLPA, NGS	P	Neuro
PMP22		601097	Hereditay neuropathy with pressure palsies	HNPP, tomaculous neuropathy	162500	SEQ, MLPA, NGS	P	Neuro
PMS2		600259	Hereditary nonpolyposis colorectal cancer type IV	HNPCC, Lynch syndrome	614337	SEQ, MLPA, NGS	P	Tumor
PNPLA6		603197	Boucher-Neuhauser-syndrome	BNHS	215470	SEQ, NGS	P	Neuro
PNPLA6		603197	Laurence-Moon syndrome	LNMS	245800	SEQ, NGS	P	Neuro
PNPLA6		603197	Oliver-McFarlane syndrome	OMCS	275400	SEQ, NGS	P	Neuro
PNPLA6		603197	Spastic paraplegia type 39, autosomal recessive	SPG39	612020	SEQ, NGS	P	Neuro
POLD1		174761	Colorectal Cancer, susceptibility type 10		612591	SEQ, NGS	P	Tumor
POLD1		174761	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	MDPL	615381	SEQ, NGS	P	Syndro
POLE		174762	Colorectal Cancer, susceptibility type 12		615083	SEQ, NGS	P	Tumor
POLE		174762	Facial dysmorphism, immunodeficiency, livedo and short stature	FILS syndrome	615139	SEQ, NGS	P	Syndro
POLG	POLG1	174763	Mitochondrial DNA depletion syndrome type 4A	MTDPS4A, Alpers syndrome	203700	SEQ, MLPA, NGS	P	Neuro
POLG	POLG1	174763	Mitochondrial DNA depletion syndrome type 4B	MTDPS4B, Mitochondrial neurogastrointestinal encephalopathy syndrome, MNGIE	613662	SEQ, MLPA, NGS	P	Neuro
POLG	POLG1	174763	Progressive external ophthalmoplegia autosomal recessive 1	PEOB1, chronic progressive external ophthalmoplegia type 1, CPEO1	258450	SEQ, MLPA, NGS	P	Neuro
POLG	POLG1	174763	Progressive external ophthalmoplegia autosomal dominant 1	PEOA1, chronic progressive external ophthalmoplegia type 1, CPEO1	157640	SEQ, MLPA, NGS	P	Neuro
POLG	POLG1	174763	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	SANDO, sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive	607459	SEQ, MLPA, NGS	P	Neuro
POLG	POLG1	174763	Spinocerebellar ataxia with epilepsy	SCAE	607459	SEQ, MLPA, NGS	P	Neuro
POLG2		604983	Chronic progressive external ophthalmoplegia type 4	CPEO4, PEOA4 progressive external ophthalmoplegia 4	610131	SEQ, MLPA, NGS	P	Neuro
POLR1C		610060	Treacher-Collins-Franceschetti syndrome type 3, autosomal recessive		248390	SEQ, NGS	P	Syndro
POLR1D		613715	Treacher-Collins-Franceschetti syndrome type 2		613717	SEQ, NGS	P	Syndro
POMC		176830	Obesity, early-onset, with adrenal insufficiency and red hair	OBAIRH	609734	SEQ, MLPA, NGS	P	Meta
PORCN		300651	Focal dermal hypoplasia	Goltz-Gorlin syndrome	305600	SEQ, NGS	P	Syndro
POU3F4		300039	Deafness, X-linked type 2	DFNX2	304400	SEQ, MLPA, NGS	P	Sensory
POU3F4		300039	Deafness, X-linked, conductive with stapes fixation	DFN3	304400	SEQ, MLPA, NGS	P	Sensory
POU3F4		300039	Gusher syndrome		304400	SEQ, MLPA, NGS	P	Sensory
PPARG		601487	Diabetes mellitus, noninsulin-dependent	NIDDM	125853	SEQ, MLPA, NGS	P	Meta
PPARG		601487	Lipodystrophy, familial partial, type 3	FPLD3	604367	SEQ, MLPA, NGS	P	Meta
PPP2R2B repeat		604325	Spinocerebellar ataxia type 12	SCA12	604326	REP	P	Neuro
PPT1		600722	Ceroid-Lipofuscinose, neuronal, Typ 1	CLN1, infantile Santavuori-Haltia disease included	256730	SEQ, MLPA, NGS	P	Meta
PRKAR1A		188830	Acrodysostosis type 1, with or without hormone resistance	ACRDYS1	101800	SEQ, MLPA, NGS	P	Tissue
PRKAR1A		188830	Carney complex, type 1	CNC1	160980	SEQ, MLPA, NGS	P	Tumor
PRKAR1A		188830	Intracardiac myxoma		255960	SEQ, MLPA, NGS	P	Tumor
PRKAR1A		188830	Pigmented nodular adrenocortical disease, primary, 1	PPNAD1	610489	SEQ, MLPA, NGS	P	Tumor
PRKAR1A		188830	Pigmented nodular adrenocortical disease, primary, 1	PPNAD1	610489	SEQ, MLPA, NGS	P	Kidney
PRKCSH		177060	Polycystic liver disease 1	PCLD1	174050	SEQ, NGS	P	Syndro
PRKG1		176894	Thoracic aortic aneurysm type 8	AAT8	615436	SEQ, NGS	P	Tissue
PRNP		176640	Creutzfeld-Jakob disease	familial, CJD	123400	SEQ, NGS	P	Neuro
PRNP		176640	Fatal familial insomnia	FFI	600072	SEQ, NGS	P	Neuro
PRNP		176640	Gerstmann-Sträussler-Scheinker syndrome	GSSS	137440	SEQ, NGS	P	Neuro
PRNP		176640	Huntington disease-like 1	HDL1	603218	SEQ, NGS	P	Neuro
PRNP		176640	Prion disease with protracted course		606688	SEQ, NGS	P	Neuro
PROC		612283	Protein C deficiency, autosomal dominant	THPH3	176860	SEQ, MLPA, NGS	P	Coagul
PROC		612283	Protein C deficiency, autosomal recessive	THPH4	612304	SEQ, MLPA, NGS	P	Coagul
PRODH		606810	Hyperprolinemia, type I	HYRPRO1	239500	SEQ, NGS	P	Meta
PROS1		176880	Protein S deficiency, autosomal dominant	THPH5	612336	SEQ, MLPA, NGS	P	Coagul
PROS1		176880	Protein S deficiency, autosomal recessive	THPH6	614514	SEQ, MLPA, NGS	P	Coagul
PRPH2		179605	Choroidal dystrophy, central areolar, type 2	CACD	613105	SEQ, MLPA, NGS	P	Sensory
PRPH2		179605	Leber congenital amaurosis type 18	LCA18	608133	SEQ, MLPA, NGS	P	Sensory
PRPH2		179605	Patterned dystrophy of retinal pigment epithelium, butterfly shaped	MDPT1	169150	SEQ, MLPA, NGS	P	Sensory
PRPH2		179605	Retinitis pigmentosa type 7, digenic included	RP7	608133	SEQ, MLPA, NGS	P	Sensory
PRPH2		179605	Retinitis punctata albescens	RPA	136880	SEQ, MLPA, NGS	P	Sensory
PRPH2		179605	Vitelliform macular dystrophy, type 3	VMD3	608161	SEQ, MLPA, NGS	P	Sensory
PRPS1		311850	Arts syndrome	ARTS	301835	SEQ, NGS	P	Syndro
PRPS1		311850	Charcot-Marie-Tooth neuropathy type X5	Rosenberg-Chutorian-syndrome, CMTX5	311070	SEQ, NGS	P	Neuro
PRPS1		311850	Deafness, X-linked, type 1	DFNX1	304500	SEQ, NGS	P	Sensory
PRPS1		311850	Phosphoribosylpyrophosphate synthetase superactivity	PRPS-related Gout, hyperuricemia	300661	SEQ, NGS	P	Meta
PRRT2		614386	Benign familial infantile seizures, type 2	BFIE2	605751	SEQ, MLPA, NGS	P	Epi
PRRT2		614386	Infantile, familial convulsions with paroxysmal choreoathetosis	ICCA	602066	SEQ, MLPA, NGS	P	Neuro
PRRT2		614386	Paroxysmal kinesigenic dyskinesia	PKD, Dystonie 10	128200	SEQ, MLPA, NGS	P	Neuro
PRSS1		276000	Hereditary pancreatitis	PCTT	167800	SEQ, MLPA, NGS	P	Tumor
PSAP		176801	Atypical Gaucher disease due to saposin C deficiency		610539	SEQ, NGS	P	Meta
PSAP		176801	Atypical Krabbe disease due to saposin A deficiency	Saposin A deficiency	611722	SEQ, NGS	P	Meta
PSAP		176801	Combined saposin deficiency		611721	SEQ, NGS	P	Neuro
PSAP		176801	Metachromatic leukodystrophy due to saposin B deficiency	Saposin B deficiency	249900	SEQ, NGS	P	Meta
PSEN1		104311	Alzheimer disease type 3, familial	DAT	607822	SEQ, MLPA, NGS	P	Neuro
PSEN1		104311	Cardiomyopathy, dilated,1U	CMD1U	613694	SEQ, MLPA, NGS	P	Cardio
PSEN1		104311	Pick disease of brain	Dementia with lobar atrophy and neuronal cytoplasmic inclusions	172700	SEQ, MLPA, NGS	P	Neuro
PSEN2		600759	Alzheimer disease type 4, familial	DAT	606889	SEQ, MLPA, NGS	P	Neuro
PSEN2		600759	Cardiomyopathy, dilated,1V	CMD1V	613697	SEQ, MLPA, NGS	P	Cardio
PSTPIP1		606347	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne	PAPA syndrome	604416	SEQ, NGS	P	Tissue
PTCH1		601309	Basal cell nevus syndrome	BCNS, Gorlin-Goltz syndrome	109400	SEQ, MLPA, NGS	P	Tumor
PTCH2		603673	Basal cell nevus syndrome	BCNS, Gorlin-Goltz syndrome	109400	SEQ, NGS	P	Tumor
PTEN		601728	Bannayan-Riley-Ruvalcaba syndrome	BBRS	158350	SEQ, MLPA, NGS	P	Tumor
PTEN		601728	Cowden syndrome, type 1		158350	SEQ, MLPA, NGS	P	Tumor
PTEN		601728	Lhermitte-Duclos syndrome		158350	SEQ, MLPA, NGS	P	Tumor
PTEN		601728	PTEN hamartoma tumor syndrome		158350	SEQ, MLPA, NGS	P	Tumor
PTH1R		168468	Chondrodysplasia, Blomstrand type		215045	SEQ, NGS	P	Tissue
PTH1R		168468	Eiken skeletal dysplasia	Eiken syndrome	600002	SEQ, NGS	P	Tissue
PTH1R		168468	Failure of tooth eruption, primary, nonsyndromic		125350	SEQ, NGS	P	Tissue
PTH1R		168468	Metaphyseal chondrodysplasia, Murk Jansen type		156400	SEQ, NGS	P	Tissue
PTHLH		168470	Brachydactyly, type E2	BDE2	613382	SEQ, NGS	P	Tissue
PTPN11		176876	LEOPARD syndrome 1		151100	SEQ, NGS	P	Syndro
PTPN11		176876	Metachondromatosis		156250	SEQ, NGS	P	Tissue
PTPN11		176876	Noonan syndrome 1	NS1	163950	SEQ, NGS	P	Syndro
PYGM		608455	Glycogen storage disease V	GSD5, McArdle disease	232600	SEQ, NGS	P	Meta
RAB7A		602298	Charcot-Marie-Tooth neuropathy type 2B	CMT2B, HMSN2B	600882	SEQ, MLPA, NGS	R	Neuro
RAD51C	FANCO	602774	Familial breast-ovarian cancer type 3	HBOC3	613399	SEQ, MLPA, NGS	R	Tumor
RAD51D		602954	Familial breast-ovarian cancer type 4	HBOC4	614291	SEQ, MLPA, NGS	R	Tumor
RAF1		164760	LEOPARD syndrome 2		611554	SEQ, NGS	R	Syndro
RAF1		164760	Noonan syndrome 5	NS5	611553	SEQ, NGS	R	Syndro
RAI1 (sequencing)		607642	Smith-Magenis syndrome		182290	SEQ, MLPA, NGS	R	Syndro
RB1		614041	Retinoblastoma	RB	180200	SEQ, MLPA, NGS	R	Tumor
REEP1		609139	Hereditary motor neuropathy type VB, distal	HMN5B	614751	SEQ, MLPA, NGS	R	Neuro
REEP1		609139	Spastic paraplegia type 31, autosomal dominant	SPG31	610250	SEQ, MLPA, NGS	R	Neuro
RET		164761	Familial medullary thyroid carcinoma	FMTC	155240	SEQ, MLPA, NGS	R	Tumor
RET		164761	Hirschsprung disease type 1	HSCR1	142623	SEQ, MLPA, NGS	R	Syndro
RET		164761	Multiple endocrine neoplasia type 2 A	MEN2A	171400	SEQ, MLPA, NGS	R	Tumor
RET		164761	Multiple endocrine neoplasia type 2 B	MEN2B	162300	SEQ, MLPA, NGS	R	Tumor
RET		164761	Pheochromocytoma	PCC	171300	SEQ, MLPA, NGS	R	Kidney
RET		164761	Pheochromocytoma	PCC	171300	SEQ, MLPA, NGS	R	Tumor
RIT1		609591	Noonan syndrome 8	NS8	615355	SEQ, NGS	R	Syndro
RNF135			Makrozephalie-Makrosomie-Faziale Dysmorphie-Syndrom	Chromosome 17q11.2 deletion syndrome	613675	SEQ, NGS	R	Syndro
RNF43		612482	Sessile serrated polyposis cancer syndrome	SSPCS	617108	SEQ, NGS	R	Neuro
RPS6KA3		300075	Coffin-Lowry syndrome		303600	SEQ, MLPA, NGS	R	Syndro
RPS6KA3		300075	Mental retardation, X-linked 19	MRX19	300844	SEQ, MLPA, NGS	R	Syndro
RRM2B		604712	Chronic progressive external ophthalmoplegia type 5	CPEO5, PEOA5 progressive external ophthalmoplegia 5	613077	SEQ, MLPA, NGS	R	Neuro
RRM2B		604712	Mitochondrial DNA depletion syndrome type 8A	MTDPS8A	612075	SEQ, MLPA, NGS	R	Neuro
RRM2B		604712	Mitochondrial DNA depletion syndrome type 8B	MNGIE , mitochondrial neurogastrointestinal encephalopathy syndrome, MTDPS8B	612075	SEQ, MLPA, NGS	R	Neuro
RS1		300839	Retinoschisis 1, X-linked, juvenile		312700	SEQ, NGS	R	Sensory
RUNX2		600211	Cleidocranial dysplasia	CCD	119600	SEQ, MLPA, NGS	R	Tissue
RUNX2		600211	Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	MDMHB	156510	SEQ, MLPA, NGS	R	Tissue
SACS		604490	Spastic Ataxia, Charlevoix-Saguenay type	SACS, spastic ataxia, autosomal recessive type 6, SPAX6, ARSACS	270550	SEQ, MLPA, NGS	S	Neuro
SALL1		602218	Townes-Brocks syndrome	TBS	107480	SEQ, MLPA, NGS	S	Syndro
SALL4		607343	Duane-radial ray syndrome	Okihiro syndrome	607323	SEQ, MLPA, NGS	S	Syndro
SALL4		607343	IVIC syndrome		147750	SEQ, MLPA, NGS	S	Syndro
SAMHD1		606754	Aicardi-Goutieres syndrome type 5	AGS5	612952	SEQ, MLPA, NGS	S	Syndro
SAMHD1		606754	Chilblain lupus type 2	CHBL2	614415	SEQ, MLPA, NGS	S	Geno
SATB2		608148	2q32-q33-Microdeletion syndrome	Glass syndrome	612313	MLPA	S	Micro
SATB2		608148	Glass syndrome	SATB2-associated syndrome	612313	SEQ, MLPA, NGS	S	Syndro
SCN1A		182389	Dravet syndrome	Severe myoclonic epilepsy of infancy, SMEI	607208	SEQ, MLPA, NGS	S	Epi
SCN1A		182389	Familial hemiplegic migraine type 3	FHM3	609634	SEQ, MLPA, NGS	S	Neuro
SCN1A		182389	Generalized epilepsy with febrile seizures plus, type 2	GEFS+2	604403	SEQ, MLPA, NGS	S	Epi
SCN1A		182389	Intractable childhood epilepsy with generalized tonic-clonic seizures	ICEGTC	607208	SEQ, MLPA, NGS	S	Epi
SCN1B		600235	Brugada syndrome type 5	BRGDA5	612838	SEQ, NGS	S	Cardio
SCN1B		600235	Generalized epilepsy with febrile seizures plus, type 1	GEFS+1	604233	SEQ, NGS	S	Epi
SCN3B		608214	Brugada syndrome type 7	BRGDA7	613120	SEQ, NGS	S	Cardio
SCN4A		603967	Hyperkalemic periodic paralysis type 2	HYPP	170500	SEQ, MLPA, NGS	S	Neuro
SCN4A		603967	Hypokalemic periodic paralysis type 2	HOKPP2	613345	SEQ, MLPA, NGS	S	Neuro
SCN4A		603967	Myotonia congenita, acetazolamide-responsive	sodium channel myotonia	608390	SEQ, MLPA, NGS	S	Neuro
SCN4A		603967	Paramyotonia congenita of von Eulenburg	PMC	168300	SEQ, MLPA, NGS	S	Neuro
SCN5A		600163	Brugada syndrome type 1	BRGDA1, Right bundle branch block, ST segment elevation, sudden death	601144	SEQ, MLPA, NGS	S	Cardio
SCN5A		600163	Cardiomyopathy, dilated, 1E	CMD1E	601154	SEQ, MLPA, NGS	S	Cardio
SCN5A		600163	Long QT syndrome 3	LQT3, Romano-Ward syndrome 3	603830	SEQ, MLPA, NGS	S	Cardio
SCN5A		600163	Sick sinus syndrome 1	SSS1, autosomal recessive	608567	SEQ, MLPA, NGS	S	Cardio
SCN9A		603415	Erythromelalgia, primary	erythermalgia	133020	SEQ, NGS	S	Neuro
SCN9A		603415	Generalized epilepsy with febrile seizures plus, type 7	GEFS+7	613863	SEQ, NGS	S	Epi
SCN9A		603415	Insensitivity to pain, congenital, autosomal recessive	congenital indifference to pain, autosomal recessive, CIP	243000	SEQ, NGS	S	Neuro
SCN9A		603415	Paroxysmal extreme pain disorder	PEXPD or PEPD	167400	SEQ, NGS	S	Neuro
SDHA		600857	Cardiomyopathy, dilated,1GG	CMD1GG	613642	SEQ, MLPA, NGS	S	Cardio
SDHA		600857	Leigh syndrome		256000	SEQ, MLPA, NGS	S	Neuro
SDHA		600857	Mitochondrial complex II deficiency		252011	SEQ, MLPA, NGS	S	Neuro
SDHA		600857	Paragangliomas, familial, type 5	PGL5	614165	SEQ, MLPA, NGS	S	Tumor
SDHAF2	SDH5	613019	Paragangliomas, familial, type 2	PGL2	601650	SEQ, MLPA, NGS	S	Tumor
SDHAF2	SDH5	613019	Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SEQ, MLPA, NGS	S	Tumor
SDHAF2	SDH5	613019	Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SEQ, MLPA, NGS	S	Tumor
SDHB		185470	Cowden syndrome, type 2		612359	SEQ, MLPA, NGS	S	Tumor
SDHB		185470	Paragangliomas, familial, type 4	PGL4	115310	SEQ, MLPA, NGS	S	Tumor
SDHB		185470	Pheochromocytoma	PCC	171300	SEQ, MLPA, NGS	S	Kidney
SDHB		185470	Pheochromocytoma	PCC	171300	SEQ, MLPA, NGS	S	Tumor
SDHB		185470	Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SEQ, MLPA, NGS	S	Kidney
SDHB		185470	Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SEQ, MLPA, NGS	S	Kidney
SDHC		602413	Paragangliomas, familial, type 3	PGL3	605373	SEQ, MLPA, NGS	S	Tumor
SDHC		602413	Pheochromocytoma	PCC	171300	SEQ, MLPA, NGS	S	Kidney
SDHC		602413	Pheochromocytoma	PCC	171300	SEQ, MLPA, NGS	S	Tumor
SDHC		602413	Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SEQ, MLPA, NGS	S	Tumor
SDHC		602413	Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SEQ, MLPA, NGS	S	Tumor
SDHD		602690	Cowden syndrome, type 3		615106	SEQ, MLPA, NGS	S	Tumor
SDHD		602690	Paragangliomas, familial, type 1	PGL1	168000	SEQ, MLPA, NGS	S	Tumor
SDHD		602690	Pheochromocytoma	PCC	171300	SEQ, MLPA, NGS	S	Kidney
SDHD		602690	Pheochromocytoma	PCC	171300	SEQ, MLPA, NGS	S	Tumor
SDHD		602690	Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SEQ, MLPA, NGS	S	Kidney
SDHD		602690	Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SEQ, MLPA, NGS	S	Kidney
SEC63		608648	Polycystic liver disease 2	PCLD2	174050	SEQ, NGS	S	Syndro
Sept.9		604061	Hereditary neuralgic amyotrophy	HNA	162100	SEQ, NGS	S	Neuro
SERPINA1, exons 3 and 5		107400	Alpha-1-antitrypsin deficiency	A1ATD	613490	SEQ, MLPA	S	Meta
SERPINC1		107300	Thrombophilia due to antithrombin III deficiency	AT3D	613118	SEQ, MLPA, NGS	S	Coagul
SERPING1	C1NH	606860	Angioedema, hereditary, types I and II	HAE1, HAE2	106100	SEQ, MLPA, NGS	S	Meta
SERPING1		606860	Partial deficiency of complement component 4		120790	SEQ, MLPA, NGS	S	Coagul
SETX		608465	Amyotrophic lateral sclerosis type 4, juvenile	ALS4	602433	SEQ, MLPA, NGS	S	Neuro
SETX		608465	Spinocerebellar ataxia, autosomal recessive type 1	AOA2	606002	SEQ, MLPA, NGS	S	Neuro
SGCE		604149	Dystonia-11, myoclonic	DYT11	159900	SEQ, MLPA, NGS	S	Neuro
SH3BP2		602104	Cherubism	CRBM	118400	SEQ, NGS	S	Syndro
SH3PXD2B		613293	Frank-ter Haar syndrome	FTHS	249420	SEQ, NGS	S	Syndro
SHOC2		602775	Noonan syndrome-like with loose anagen hair		607721	SEQ, NGS	S	Syndro
SHOX		312865	Dyschondrosteosis Leri-Weill type	LWD	127300	SEQ, MLPA, NGS	S	Tissue
SIL1		608005	Marinesco-Sjorgren syndrome	MSS	248800	SEQ, NGS	S	Neuro
SIM1		603128	Obesity			SEQ, MLPA, NGS	S	Meta
SKI		164780	Shprintzen-Goldberg syndrome	Shprintzen-Goldberg craniosynostosis syndrome	182212	SEQ, NGS	S	Syndro
SKI		164780	Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Craniosynostosis syndrome	182212	SEQ, NGS	S	Tissue
SLC1A3		600111	Episodic ataxia type 6	EA6	612656	SEQ, NGS	S	Neuro
SLC20A2		158378	Basal ganglia calcification, idiopathic, type 1, Fahr disease	IBGC1	213600	SEQ, NGS	S	Neuro
SLC24A5		609802	Albinism, oculocutaneous, type 6	OCA6	113750	SEQ, NGS	S	Meta
SLC25A13		603859	Citrullinemia, type II, adult-onset	CTLN2, Citrin deficiency	603471	SEQ, NGS	S	Meta
SLC25A13		603859	Citrullinemia, type II, adult-onset	CTLN2, citrin deficiency	603471	SEQ, NGS	S	Path
SLC25A13		603859	Citrullinemia, type II, neonatal-onset	Cholestasis, neonatal intrahepatic, caused by citrin deficiency, NICCD	605814	SEQ, NGS	S	Meta
SLC25A13		603859	Citrullinemia, type II, neonatal-onset	Neonatal intrahepatic cholestasis caused by citrin deficiency, NICCD	605814	SEQ, NGS	S	Path
SLC25A15		603861	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	HHH syndrome	238970	SEQ, NGS	S	Meta
SLC25A15		603861	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	HHH syndrome	238970	SEQ, NGS	S	Path
SLC25A38		610819	Sideroblastic Anemia 2, pyridoxine-refractory		205950	SEQ, NGS	S	Coagul
SLC25A4	ANT1	103220	Chronic progressive external ophthalmoplegia type 2	CPEO2, PEOA2 progressive external ophthalmoplegia 2	609283	SEQ, MLPA, NGS	S	Neuro
SLC25A4		103220	Mitochondrial DNA depletion syndrome type 12, cardiomyopathic type	MTDPS12	615418	SEQ, MLPA, NGS	S	Neuro
SLC2A1	GLUT1	138140	Glucose transport defect, blood-brain barrier	GLUT1-deficiency syndrome 1	606777	SEQ, MLPA, NGS	S	Neuro
SLC2A1	GLUT1	138140	GLUT1 deficiency syndrome 1	GLUT1DS1	606777	SEQ, MLPA, NGS	S	Epi
SLC45A2	MATP	606202	Albinism, oculocutaneous, type 4	OCA4	606574	SEQ, NGS	S	Meta
SLC6A19		608893	Hartnup disorder	HND	234500	SEQ, NGS	S	Meta
SLCO1B1*5 Genetic Variant	c.521T>C, p.V174A	604843	Association with statin-induced side effects			SEQ	S	Pharma
SMAD3		603109	Loeys-Dietz syndrome type 3	LDS3, aneurysms-osteoarthritis syndrome	613795	SEQ, NGS	S	Tissue
SMAD4	MADH4	600993	Juvenile polyposis with hereditary hemorrhagic teleangiectasia syndrome	JP/HHT	175050	SEQ, MLPA, NGS	S	Tumor
SMAD4	MADH4	600993	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	JP/HHT	175050	SEQ, MLPA, NGS	S	Tissue
SMAD4	MADH4	600993	Juvenile, intestinal polyposis	JIP	174900	SEQ, MLPA, NGS	S	Tumor
SMN1		600354	Spinal muscular atrophy type I	SMA1, Werdnig-Hoffmann disease	253300	SEQ, MLPA, NGS	S	Neuro
SMN1		600354	Spinal muscular atrophy type II	SMA2	253550	SEQ, MLPA, NGS	S	Neuro
SMN1		600354	Spinal muscular atrophy type III	SMA3	253400	SEQ, MLPA, NGS	S	Neuro
SMN1		600354	Spinal muscular atrophy type IV, adult form	SMA4	271150	SEQ, MLPA, NGS	S	Neuro
SMN2		601627	Spinal muscular atrophy, type III, modifier of	SMA	253400	SEQ, MLPA, NGS	S	Neuro
SMPD1		607608	Niemann-Pick disease, type A		257200	SEQ, MLPA, NGS	S	Meta
SMPD1		607608	Niemann-Pick disease, type B		607616	SEQ, MLPA, NGS	S	Meta
SNAI2		602150	Waardenburg syndrome, type 2D	WS2D	608890	SEQ, MLPA, NGS	S	Syndro
SNCA		163890	Lewy-Body dementia	Lewy-Body variant of Alzheimer disease	127750	SEQ, MLPA, NGS	S	Neuro
SNCA		163890	Parkinson disease, autosomal dominant, type 1	PARK1, Lewy Body Parkinson disease	168601	SEQ, MLPA, NGS	S	Neuro
SNCA		163890	Parkinson disease, autosomal dominant, type 4	PARK4, Lewy Body Parkinson disease	605543	SEQ, MLPA, NGS	S	Neuro
SNCA rs11931074		163890	Multiple system atrophy	MSA	146500	SEQ	S	Neuro
SNCB		602569	Lewy-Body dementia	Lewy-Body variant of Alzheimer disease	127750	SEQ, NGS	S	Neuro
SOD1		147450	Amyotrophic lateral sclerosis type 1	ALS1	105400	SEQ, NGS	S	Neuro
SORD		182500	Sorbitol dehydrogenase deficiency with peripheral neuropathy	SORDD	618912	SEQ, NGS	S	Neuro
SOS1		182530	Noonan syndrome 4	NS4	610733	SEQ, NGS	S	Syndro
SOX10		602229	Waardenburg syndrome type 2E	WS2E	611584	SEQ, MLPA, NGS	S	Syndro
SOX10		602229	Waardenburg syndrome, type 4C	WS4C	613266	SEQ, MLPA, NGS	S	Syndro
SOX10		602229	Waardenburg-Shah syndrome, PCWH syndrome		609136	SEQ, MLPA, NGS	S	Syndro
SOX2		184429	Anophthalmia / Microphthalmia, syndromic	SOX2-related eye disorders	206900	SEQ, MLPA, NGS	S	Syndro
SOX2		184429	Microphthalmia, syndromic	MCOPS3, optic nerve hypoplasia and abnormalities of the central nervous system	206900	SEQ, MLPA, NGS	S	Syndro
SOX9		608160	Campomelic dysplasia	CMPD	114290	SEQ, MLPA, NGS	S	Syndro
SOX9		608160	Campomelic dysplasia with autosomal sex reversal	CMPD	114290	SEQ, MLPA, NGS	S	Syndro
SPAST	SPG4	604277	Spastic paraplegia type 4, autosomal dominant	SPG4	182601	SEQ, MLPA, NGS	S	Neuro
SPG11	KIAA1840, Spatacsin	610844	Spastic paraplegia type 11, autosomal recessive	SPG11, spastic paraplegia with thin corpus callosum	604360	SEQ, MLPA, NGS	S	Neuro
SPG20	KIAA0610, Spartin	607111	Spastic paraplegia type 20, autosomal recessive	SPG20, spastic paraplegia with distal muscle wasting, Troyer syndrome	275900	SEQ, NGS	S	Neuro
SPG7		602783	Spastic paraplegia type 7, autosomal recessive	SPG7	607259	SEQ, MLPA, NGS	S	Neuro
SPINK1		167790	Hereditary pancreatitis	PCTT	167800	SEQ, MLPA, NGS	S	Tumor
SPR		182125	DOPA-responsive dystonia due to sepiapterin reductase deficiency		612716	SEQ, NGS	S	Neuro
SPRED1		609291	Legius syndrome	Neurofibromatosis type 1-like syndrome	611431	SEQ, MLPA, NGS	S	Syndro
SPRED1		609291	Neurofibromatosis type 1-like syndrome	Legius syndrome	611431	SEQ, MLPA, NGS	S	Tumor
SPTLC1		605712	Hereditary, sensory and autonomic neuropathy type IA	HSAN1A, HSN1A	162400	SEQ, MLPA, NGS	S	Neuro
SQSTM1		601530	Paget disease of bone	PDB3	602080	SEQ, NGS	S	Tissue
SRCAP exon 30 to 34		611421	Floating-Harbor syndrome	FHS	136140	SEQ	S	Syndro
SRY		480000	46XY sex reversal type 1	SRXY1, gonadal dysgenesis, true hermaphroditism	400044	SEQ, MLPA, NGS	S	Syndro
STAT3		102582	Hyper-IgE recurrent infection syndrome, autosomal dominant	HIES, Job syndrome	147060	SEQ, MLPA, NGS	S	Meta
STK11		602216	Peutz-Jeghers syndrome	PJS	175200	SEQ, MLPA, NGS	S	Tumor
SUCLA2		603921	Mitochondrial DNA depletion syndrome type 5	MTDPS5	612073	SEQ, MLPA, NGS	S	Neuro
SUCLG1		611224	Mitochondrial DNA depletion syndrome type 9	MTDPS9	245400	SEQ, MLPA, NGS	S	Neuro
SUFU		607035	Basal cell nevus syndrome	BCNS, Gorlin-Goltz syndrome	109400	SEQ, MLPA, NGS	S	Tumor
SUFU		607035	Medulloblastoma, desmoplastic		155255	SEQ, MLPA, NGS	S	Tumor
TARDBP	TDP43	605078	Amyotrophic lateral sclerosis type 10	ALS10	612069	SEQ, NGS	T	Neuro
TARDBP	TDP43	605078	Frontotemporal dementia with TDP43 inclusions		612069	SEQ, NGS	T	Neuro
TBP		600075	Spinocerebellar ataxia type 17	SCA17	607136	REP	T	Neuro
TBP repeat		600075	Huntington disease-like 4	HDL4	607136	REP	T	Neuro
TBX5		601620	Holt-Oram syndrome	HOS	142900	SEQ, MLPA, NGS	T	Syndro
TCN2		613441	Transcobalamin II deficiency		275350	SEQ, NGS	T	Meta
TCOF1		606847	Treacher-Collins-Franceschetti syndrome		154500	SEQ, MLPA, NGS	T	Syndro
TECRL		617242	Catecholaminergic polymorphic ventricular tachycardia-3	CPVT3	614021	SEQ, NGS	T	Cardio
TECTA		602574	Deafness, autosomal dominant type 8/12	DFNA12/DFNA8	601543	SEQ, NGS	T	Sensory
TECTA		602574	Deafness, autosomal recessive type 21	DFNB21	603629	SEQ, NGS	T	Sensory
TGFB1		190180	Camurati-Engelmann disease		131300	SEQ, NGS	T	Tissue
TGFB2		190220	Loeys-Dietz syndrome type 4	LDS4	614816	SEQ, NGS	T	Tissue
TGFB3		190230	Loeys-Dietz syndrome type 5	LDS5	615582	SEQ, MLPA, NGS	T	Tissue
TGFBR1		190181	Loeys-Dietz syndrome type 1	LDS1, Furlong syndrome	609192	SEQ, MLPA, NGS	T	Tissue
TGFBR1		190181	Thoracic aortic aneurysm type 5	AAT5	609192	SEQ, MLPA, NGS	T	Tissue
TGFBR2		190182	Loeys-Dietz syndrome type 2	LDS2	610168	SEQ, MLPA, NGS	T	Tissue
TGFBR2		190182	Thoracic aortic aneurysm type 3	AAT3, FAA3	610168	SEQ, MLPA, NGS	T	Tissue
TH	DYT5B	191290	DOPA-responsive dystonia, autosomal recessive	DRD, Segawa syndrome	605407	SEQ, MLPA, NGS	T	Neuro
THAP1		609520	Torsion dystonia type 6	DYT6	602629	SEQ, MLPA, NGS	T	Neuro
THRB		190160	Thyroid hormone resistance, generalized, autosomal dominant	GRTH	188570	SEQ, NGS	T	Meta
THRB		190160	Thyroid hormone resistance, generalized, autosomal recessive	GRTH, Refetoff syndrome	274300	SEQ, NGS	T	Meta
THRB		190160	Thyroid hormone resistance, selective pituitary	PRTH	145650	SEQ, NGS	T	Meta
TMEM126A		612988	Optic atrophy-7 with or without auditory neuropathy	OPA7		SEQ, NGS	T	Sensory
TMEM127		613403	Pheochromocytoma	PCC	171300	SEQ, NGS	T	Kidney
TMEM127		613403	Pheochromocytoma	PCC	171300	SEQ, NGS	T	Tumor
TMEM127		613403	Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SEQ, NGS	T	Kidney
TMEM127		613403	Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SEQ, NGS	T	Tumor
TMPRSS6		609862	Iron-refractory iron deficiency anemia	IRIDA	206200	SEQ, NGS	T	Meta
TNFRSF13B	TACI	604907	Immunodeficiency, common variable, type 2	CVID2, antibody deficiency, hypogammaglobulinemia due to taci defect	240500	SEQ, NGS	T	Meta
TNFRSF13B	TACI	604907	Immunoglobulin A deficiency type 2	IGAD2	609529	SEQ, NGS	T	Meta
TNFRSF1A		191190	Familial periodic fever	tumor necrosis factor receptor-associated periodic syndrome (TRAPS)	142680	SEQ, NGS	T	Fever
TNNI3		191044	Cardiomyopathy, dilated, 1FF	CMD1FF	613286	SEQ, NGS	T	Cardio
TNNI3		191044	Cardiomyopathy, familial hypertrophic 7	CMH7	613690	SEQ, NGS	T	Cardio
TNNT2		191045	Cardiomyopathy, dilated, 1D	CMD1D	601494	SEQ, MLPA, NGS	T	Cardio
TNNT2		191045	Cardiomyopathy, familial hypertrophic 2	CMH2	115195	SEQ, MLPA, NGS	T	Cardio
TOR1A		605204	Torsion dystonia type 1	DYT1	128100	SEQ, MLPA, NGS	T	Neuro
TP53		191170	Li-Fraumeni syndrome 1	LFS1	151623	SEQ, MLPA, NGS	T	Tumor
TP63	p63, TP73L	603273	Acro-dermato-ungual-lacrimal-tooth syndrome	ADULT syndrome	103285	SEQ, NGS	T	Syndro
TP63	p63, TP73L	603273	AEC syndrome, Hay-Wells syndrome		106260	SEQ, NGS	T	Syndro
TP63	p63, TP73L	603273	EEC syndrome 3	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	604292	SEQ, NGS	T	Syndro
TP63	p63, TP73L	603273	Limb-mammary syndrome		603543	SEQ, NGS	T	Syndro
TP63	p63, TP73L	603273	Rapp-Hodgkin syndrome	ectodermal dysplasia, anhidrotic, with cleft lip/palate	129400	SEQ, NGS	T	Syndro
TP63	p63, TP73L	603273	Split-hand/foot malformation type 4	SHFM4	605289	SEQ, NGS	T	Syndro
TPM1		191010	Cardiomyopathy, dilated,1Y	CMD1Y	611878	SEQ, NGS	T	Cardio
TPM1		191010	Cardiomyopathy, familial hypertrophic 3	CMH3	115196	SEQ, NGS	T	Cardio
TPM2		190990	Arthrogryposis multiplex congenita, distal type 1	AMCD1	108120	SEQ, NGS	T	Syndro
TPO		606765	Thyroid dyshormonogenesis type 2A		274500	SEQ, MLPA, NGS	T	Meta
TPP1		607998	Ceroid lipofuscinosis, neuronal, 2	CLN2, Jansky-Bielschowsky disease, late infantile form included	204500	SEQ, MLPA, NGS	T	Meta
TRA rs1154155	TRA@, T-cell receptor alpha, TCRA	186880	Narcolepsy type 5	NRCLP5	612851	SEQ	T	Neuro
TRAPPC2		300202	Spondyloepiphyseal dysplasia tarda, x-linked	SEDT	313400	SEQ, NGS	T	Tissue
TREM2		605086	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2	PLOSL2	618193	SEQ, NGS	T	Neuro
TREX1		606609	Aicardi-Goutieres syndrome type 1	AGS1	225750	SEQ, MLPA, NGS	T	Syndro
TREX1		606609	Chilblain lupus type 1	CHBL1	610448	SEQ, MLPA, NGS	T	Geno
TREX1		606609	Hereditary endotheliopathy with retinopathy, nephropathy, and stroke	HERNS syndrome	192315	SEQ, MLPA, NGS	T	Syndro
TREX1		606609	Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations	RVCLS, cerebroretinal vasculopathy, hereditary, CRV	192315	SEQ, MLPA, NGS	T	Syndro
TRPS1		604386	Trichorhinophalangeal syndrome, type I		190350	SEQ, MLPA, NGS	T	Tissue
TRPS1		604386	Trichorhinophalangeal syndrome, type III		190351	SEQ, MLPA, NGS	T	Tissue
TRPV4		605427	Brachyolmia type 3		113500	SEQ, NGS	T	Tissue
TRPV4		605427	Charcot-Marie-Tooth neuropathy type 2C	CMT2C, HMSN2C	606071	SEQ, NGS	T	Neuro
TRPV4		605427	Metatropic dysplasia	Metatropic dwarfism	156530	SEQ, NGS	T	Tissue
TRPV4		605427	Parastremmatic dwarfism		168400	SEQ, NGS	T	Tissue
TRPV4		605427	Scapuloperoneal spinal muscular atrophy	SPSMA, New England type	181405	SEQ, NGS	T	Neuro
TRPV4		605427	Spinal muscular atrophy distal, congenital, nonprogressive	Spinal muscular atrophy, distal, congenital benign, with contractures	600175	SEQ, NGS	T	Neuro
TRPV4		605427	Spondyloepiphyseal dysplasia, maroteaux type	SED, pseudo-Morquio syndrome, type 2	184095	SEQ, NGS	T	Tissue
TRPV4		605427	Spondylometaphyseal dysplasia, Kozlowski type		184252	SEQ, NGS	T	Tissue
TSC1		605284	Tuberous sclerosis 1	TSC1	191100	SEQ, MLPA, NGS	T	Tumor
TSC2		191092	Tuberous sclerosis 2	TSC2	613254	SEQ, MLPA, NGS	T	Tumor
TSEN2		608753	Pontocerebellar hypoplasia type 2B	PCH2B	612389	SEQ, NGS	T	Neuro
TSEN34		608754	Pontocerebellar hypoplasia type 2C	PCH2C	612390	SEQ, NGS	T	Neuro
TSEN54		608755	Pontocerebellar hypoplasia type 2A	PCH2A	277470	SEQ, NGS	T	Neuro
TSEN54		608755	Pontocerebellar hypoplasia type 4	PCH4	225753	SEQ, NGS	T	Neuro
TSHR		603372	Congenital nongoitrous hypothyroidism-1	CHNG1	275200	SEQ, MLPA, NGS	T	Meta
TSHR		603372	Familial gestational hyperthyroidism		603373	SEQ, MLPA, NGS	T	Meta
TSHR		603372	Nonautoimmune hyperthyroidism		609152	SEQ, MLPA, NGS	T	Meta
TTBK2		611695	Spinocerebellar ataxia type 11	SCA11	604432	SEQ, NGS	T	Neuro
TTR		176300	Amyloidosis, hereditary, transthyretin-related	Amyloid polyneuropathy	105210	SEQ, NGS	T	Meta
TUBA1A		602529	Lissencephaly type 3	LIS3	611603	SEQ, NGS	T	Syndro
TUBB3		602661	Complex cortical dysplasia with other brain malformations type 1	CDCBM1	614039	SEQ, NGS	T	Neuro
TUBB3		602661	Congenital fibrosis of extraocular muscles type 3A	CFEOM3A	600638	SEQ, NGS	T	Sensory
TUBGCP6		610053	Microcephaly and chorioretinopathy, autosomal recessive		251270	SEQ, NGS	T	Syndro
TWIST1		601622	Craniosynostosis type 1	CRS1	123100	SEQ, MLPA, NGS	T	Syndro
TWIST1		601622	Saethre-Chotzen syndrome	SCS, acrocephalosyndactyly, type III	101400	SEQ, MLPA, NGS	T	Syndro
TWIST1		601622	Saethre-Chotzen syndrome with eyelid anomalies		101400	SEQ, MLPA, NGS	T	Syndro
TWNK	C10ORF2, TWINKLE	606075	Chronic progressive external ophthalmoplegia type 3,	CPEO3, progressive external ophthalmoplegia 3, PEOA3	609286	SEQ, MLPA, NGS	T	Neuro
TWNK	C10ORF2, TWINKLE	606075	Infantile-onset spinocerebellar ataxia, autosomal recessive		271245	SEQ, MLPA, NGS	T	Neuro
TWNK	C10ORF2, TWINKLE	606075	Mitochondrial DNA depletion syndrome type 7, hepatocerebral type	MTDPS7	271245	SEQ, MLPA, NGS	T	Neuro
TWNK	C10orf2, TWINKLE	606075	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, type 3		609286	SEQ, MLPA, NGS	T	Neuro
TYK2		176941	Hyper-IgE syndrome with atypical mycobacteriosis, autosomal recessive	Immunodeficiency 35, tyrosine kinase 2 deficiency	611521	SEQ, NGS	T	Meta
TYMP	ECGF1	131222	Mitochondrial DNA depletion syndrome type 1	MNGIE, Mitochondrial neurogastrointestinal encephalopathy syndrome, MTDPS1	603041	SEQ, NGS	T	Neuro
TYR hypomorphic mutation		606933	Albinism, oculocutaneous, type 1B	OCA1B, tyrosinase-positive OCA1	606952	SEQ, MLPA, NGS	T	Meta
TYR null mutation		606933	Albinism, oculocutaneous, type 1A	OCA1A, tyrosinase-negative OCA1	203100	SEQ, MLPA, NGS	T	Meta
TYRP1		115501	Albinism, oculocutaneous, type 3	OCA3	203290	SEQ, NGS	T	Meta
UCHL1		191342	Parkinson disease, autosomal dominant, type 5	PARK5	613643	SEQ, MLPA, NGS	U	Neuro
UCHL1		191342	Spastic paraplegia type 79, autosomal recessive	SPG79, neurodegeneration with optic atrophy	615491	SEQ, MLPA, NGS	U	Neuro
UGT1A1	UGT1	191740	Crigler-Najjar syndrome type I	Hyperbilirubinemia, Crigler-Najjar type I (HBLRCN1)	218800	SEQ, NGS	U	Meta
UGT1A1	UGT1	191740	Crigler-Najjar syndrome type II	Hyperbilirubinemia, Crigler-Najjar type II (HBLRCN2)	606785	SEQ, NGS	U	Meta
UGT1A1	UGT1	191740	Gilbert syndrome		143500	SEQ, NGS	U	Meta
UMOD		191845	Glomerulocystic kidney disease with hyperuricemia and isosthenuria		609886	SEQ, NGS	U	Meta
UMOD		191845	Hyperuricemic nephropathy, familial juvenile, 1	HNFJ1	162000	SEQ, NGS	U	Meta
UMOD		191845	Medullary cystic kidney disease 2	MCKD2	603860	SEQ, NGS	U	Meta
UROD		613521	Porphyria cutanea tarda	Uroporphyrinogen decarboxylase deficiency	176100	SEQ, MLPA, NGS	U	Meta
VAPB		605704	Amyotrophic lateral sclerosis type 8	ALS8	608627	SEQ, NGS	V	Neuro
VAPB		605704	Spinal muscular atrophy, proximal, late-onset, autosomal dominant	Spinal muscular atrophy Finkel type	182980	SEQ, NGS	V	Neuro
VCP		601023	Amyotrophic lateral sclerosis type 14, with or without frontotemporal dementia	ALS14	613954	SEQ, NGS	V	Neuro
VCP		601023	Charcot-Marie-Tooth neuropathy type 2Y	CMT2Y	616687	SEQ, NGS	V	Neuro
VCP		601023	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia	IBMPFD1	167320	SEQ, NGS	V	Neuro
VHL		608537	Pheochromocytoma	PCC	171300	SEQ, MLPA, NGS	V	Kidney
VHL		608537	Pheochromocytoma	PCC	171300	SEQ, MLPA, NGS	V	Tumor
VHL		608537	Von Hippel-Lindau syndrome	VHL	193300	SEQ, MLPA, NGS	V	Kidney
VHL		608537	Von Hippel-Lindau syndrome	VHL	193300	SEQ, MLPA, NGS	V	Tumor
VLDLR		192977	Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1	CAMRQ1	224050	SEQ, MLPA, NGS	V	Neuro
VPS13A		605978	Choreoacanthocytosis	Neuroacanthocytosis, Levine-Critchley syndrome	200150	SEQ, NGS	V	Neuro
VPS13B		607817	Cohen syndrome	COH1	216550	SEQ, MLPA, NGS	V	Syndro
WASHC5	KIAA0196	610657	Spastic paraplegia type 8, autosomal dominant,	SPG8	603563	SEQ, NGS	W	Neuro
WDR45		300526	Neurodegeneration with brain iron accumulation, type 5	NBIA5	300894	SEQ, NGS	W	Neuro
WNT10A		606268	Odontoonychodermal dysplasia	OODD	257980	SEQ, MLPA, NGS	W	Syndro
WNT10A		606268	Schopf-Schulz-Passarge syndrome	SSPS, keratosis, palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis	606268	SEQ, MLPA, NGS	W	Syndro
WNT10A		606268	Tooth agenesis-4 with or without ectodermal dysplasia	STHAG4, absence of lateral incisors	150400	SEQ, MLPA, NGS	W	Syndro
WNT5A		164975	Robinow syndrome, autosomal dominant		180700	SEQ, NGS	W	Syndro
WRN	RECQL2	604611	Werner syndrome		277700	SEQ, NGS	W	Syndro
XK		314850	McLeod syndrome	MCLDS	300842	SEQ, NGS	X	Neuro
XPR1		605237	Basal ganglia calcification, idiopathic, type 6, Fahr disease	IBGC6	616413	SEQ, NGS	X	Neuro
ZFYVE26	KIAA0321, Spastizin	612012	Spastic paraplegia type 15, autosomal recessive	SPG15, spastic paraplegia and retinal degeneration, Kjellin syndrome	270700	SEQ, NGS	Z	Neuro

MEWIGEN gene list

Please find our complete genetic analysis service list below

Gene list

Search by:

Home

Service

Contact / Request

About