Inherited Diseases – Targeted Variant Testing
Clinically Available Tests
Disorder____________
|
Gene /
|
DNAVariant |
Protein variant |
dbSNP ID |
ClinVar
|
Adrenal hyperplasia, congenital (CAH) [201810] | HSD3B2 NM_00198.4 |
c.35G>A | p.Gly12Glu | rs756607591 | n/a |
Aicardi Goutieres syndrome 5 [612952] | SAMHD1 NM_015474.3 |
c.1411-2A>G | p.Glu471_Asp501del | rs515726141 | 131940 |
Aicardi Goutieres syndrome 5 [612952] | SAMHD1 NM_015474.3 |
c.428G>A | p.Arg143His | rs369035155 | 131944 |
Aicardi Goutieres syndrome 6 [615010] | ADAR NM_001111.5 |
c.3019G>A | p.Gly1007Arg | rs398122822 | 48057 |
Ataxia-telangiectasia-like disorder 2 [615919] | PCNA NM_002592.2 |
c.683G>T | p.Ser228Ile | rs369958038 | 152753 |
Cartilage-hair hypoplasia [250250] | RMRP NR_003051.3 |
n.71A>G | rs199476103 | 29247 | |
Cortical dysplasia-focal epilepsy syndrome [610042] | CNTNAP2 NM_014141.6 |
c.3709delG | p.Asp1237Ilefs*17 | rs730880275 | 20529 |
Deafness (DFNB1A) [220290] | GJB2 NM_004004.6 | c.35delG | p.Gly12Valfs*2 | rs80338939 | 32043 |
Deafness (DFNB1A) [220290] | GJB2 NM_004004.6 | c.229T>C | p.Trp77Arg | rs104894397 | 32042 |
Deafness and myopia (DFNMYP) syndrome [221200] | SLITRK6 NM_032229.3 |
c.1240C>T | p.Gln414* | rs587777069 | 94429 |
Galloway-Mowat syndrome 1 [251300] | WDR73 NM_032856.5 |
c.888delT | p.Phe296Leufs*26 | rs869320712 | 227158 |
Glutaric aciduria, type 1 [231670] | GCDH NM_000159.4 |
c.1262C>T | p.Ala421Val | rs121434367 | 17121 |
GM3 synthase deficiency (Amish infantile epilepsy syndrome) [609056] |
ST3GAL5 NM_003896.4 |
c.862C>T | p.Arg288* | rs104893668 | 20595 |
Hemophilia B – Factor IX deficiency [306900] | F9 NM_000133.3 |
c.1025C>T | p.Thr342Met | rs137852254 | 25646 |
Jalili syndrome [217080] | CNNM4 NM_020184.4 |
c.1813C>T | p.Arg605* | rs1021713187 | n/a |
Mast Syndrome [248900] | SPG21 NM_016630.7 |
c.601dupA | p.Thr201Asnfs*13 | rs387906275 | 17529 |
Methylmalonic aciduria and homocystinuria, cblC type (aka cobalamin C deficiency) [277400] |
MMACHC NM_015506.2 |
c.271dupA | p.Arg91Lysfs*14 | rs398124292 | 16460 |
Mucolipidosis III alpha/beta (aka pseudo-Hurler polydystrophy) [252600] | GNPTAB NM_024312.5 |
c.3503_3504delTC | p.Leu1168Glnfs*5 | rs34002892 | 17810 |
Nemaline myopathy 5 (aka Amish nemaline myopathy) [605355] |
TNNT1 NM_003283.6 |
c.538G>T | p.Glu180* | n/a | n/a |
Nephrotic syndrome, type 1 (aka congenital nephrosis) [256300] | NPHS1 NM_004646.3 |
c.1481delC | p.Ser49Cysfs*55 | rs386833883 | 71080 |
Oculotaneous albinism [203100] [606952] |
TYR NM_000372.5 |
c.1217C>T | p.Pro406Leu | rs104894313 | 18816 |
Phenylketonuria [261600] | PAH NM_000277.3 |
c.283_285 delATC | p.Ile95del | rs62508727 | 15643 |
Phenylketonuria [261600] | PAH NM_000277.3 |
c.782G>A | p.Arg261Gln | rs5030849 | 15621 |
Phenylketonuria [261600] | PAH NM_000277.3 |
c.1066-11G>A | rs5030855 | 15646 | |
Phenylketonuria [261600] | PAH NM_000277.3 |
c.1315+1G>A | rs5030861 | 15615 | |
Primary ciliary dyskinesia 3 [608644] | DNAH5 NM_001369.2 |
c.4348C>T | p.Gln1450* | rs771663107 | 205552 |
Propionic acidemia [606054] | PCCB NM_000532.5 |
c.1606A>G | p.Asn536Asp | rs202247823 | 47484 |
Psychomotor retardation, epilepsy, and craniofacial dysmorphism [614501] |
SNIP1 NM_024700.3 |
c.1097A>G | p.Glu366Gly | rs387906986 | 30717 |
Rigidity and multifocal seizure syndrome, lethal neonatal; RMFSL [614498] | BRAT1 NM_152743.4 |
c.638dupA | p.Val214Glyfs*189 | rs730880324 | 40156 |
Senior-Loken Syndrome 5 [609254] | IQCB1 NM_001023570.4 |
c.1213_1276delins TACAGGGAGAGGGTA |
p.Lys405Tyrfs*11 | n/a | n/a |
Severe combined immune deficiency (SCID) IL7R [608971] | IL7R NM_002185.5 |
c.2T>G | p.Met1Arg | rs200076125 | 924062 |
Severe combined immune deficiency (SCID) RAG1 [601457] | RAG1 NM_000448.2 |
c.2974A>G | p.Lys992Glu | rs539590514 | 359938 |
Severe neonatal hypertrophic cardiomyopathy/ Hypertrophic cardiomyopathy 4; Dilated cardiomyopathy 1MM; Left ventricular noncompaction 10 [115197] [615396] | MYBPC3 NM_000256.3 |
c.3330+2T>G | rs387906397 | 23660 | |
Sitosterolemia 1 [210250] | ABCG8 NM_022437.2 |
c.1720G>A | p.Gly574Arg | rs137852988 | 20007 |
Spastic paraplegia 20 (aka Troyer syndrome) [275900] | SPART (SPG20) NM_015087.5 |
c.1110delA | p.Lys370Asnfs*30 | rs1060499524 | 18496 |
Trichothiodystrophy 4, nonphotosensitive (aka Amish brittle hair syndrome) [234050] | MPLKIP NM_138701.4 |
c.430A>G | p.Met144Val | rs137853117 | 16883 |
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