Inherited Diseases – Targeted Variant Testing

​Clinically Available Tests

 

Disorder____________
[MIM #]
Gene /
Transcript ID
DNA
Variant
Protein variant
dbSNP ID
ClinVar
Allele ID
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.505G>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
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

 

Back to Cytogenetics Home Page

Back to Top