Inherited Diseases – Sequence Variant Testing

​Clinically Available Tests

 

Disease
Gene symbol/ Variant
Sequence
variant
Protein variant
Availability
Ataxia-Telangiectasia

PCNA

NM_002592.2

 c.683G>T  Ser228Ile Clinical
Autosomal recessive deafness and myopia syndrome (DFNMYP; MIM #221200) SLITRK6             NM_032229.2  c.1240C>T  p.Gln414Ter Clinical
Cartilage-hair hypoplasia

RMRP

NM_001195200.1

 c.-504C>T Clinical
Cobalamin C disease (methylmalonic acidemia and homocystinura, cblC type)

MMACHC

NM_015506.2

c.271dupA Clinical
Congenital nephrotic syndrome (MIM # 256300) NPHS1 NM_004646.3 c.1481delC Ser494Cysfs Clinical
Cortical dysplasia and focal epilepsy

CNTNAP2

NM_014141.5

c.3709delG Asp1237Ilefs Clinical

Deafness

MIM#220290

GJB2                  NM_004004.5 c.229T>C p.Trp77Arg Clinical

Deafness

(OMIM:121011.0004)

GJB2                         NM_004004.5 c.35delG p.Gly12Valfs Clinical
Factor V Leiden Mutation F5 Clinical
Fragile X syndrome FMR1 (CGG)n expansion Clinical
Galloway-Mowat syndrome

WDR73

NM_032856.2

c.888delT Clinical
Glutaric aciduria, type 1

GCDH 

NM_000159.3

c.1262C>T Ala421Val Clinical
Hemophilia B – Factor IX deficiency F9 c.1025C>T Thr342Met Clinical
Hereditary hemochromatosis HFE c.845G>A Cys282Tyr Clinical
Infantile lethal cardiomyopathy

MYBPC3 

NM_000256.3

c.3330+2T>G Clinical

Jalili syndrome (Autosomal recessive)

PMID: 19200525

CNNM4

NM_020184.3

c.1813C>T Arg605X Clinical

Mast Syndrome 

MIM #248900

SPG21 NM_016630.6 c.601dupA Thr201Asnfs Clinical
Nemaline rod myopathy (chicken breast disease)

TNNT1 

NM_003283.5

c.505G>T Glu180Ter Clinical
Phenylketonuria

PAH

NM_000277.1

c.283_285 delATC Val966Glyfs Clinical
Phenylketonuria

PAH 

NM_000277.1

c.782G>A  Arg261Gln Clinical
Phenylketonuria

PAH 

NM_000277.1

c.1066-11G>A Clinical
Phenylketonuria

PAH 

NM_000277.1

c.1315+1G>A Clinical
Primary ciliary dyskinesia

DNAH5

NM_001369.2

c.4348C>T Gln1450Ser Clinical
Pseudo-Hurler polydystrophy

GNPTAB

NM_024312.4

c.3503_3504delTC Leu1168Glnfs Clinical

Senior-Loken

Syndrome 5

IQCB1

NM_001023570.2

c.1213 1276del Clinical
Severe combined immune deficiency (IL7Ra)

IL7R 

NM_002185.3

c.2T>G Met1Arg Clinical
Severe combined immune deficiency (RAG1)

RAG1

NM_000448.2

c.2974A>G Lys992Glu Clinical
Sitosterolemia

ABCG8

NM_022437.2

c.1720G>A Gly574Arg Clinical
Spastic paraplegia 20 (Troyer syndrome- autosomal recessive MIM#275900) SPG20 NM_015087.4 c.1110delA Lys370Asnfs*30 Clinical
Symptomatic epilepsy and skull dysplasia (Psychomotor Retardation, Epilepsy and Craniofacial dysmorphism -PMRED)

SNIP1

NM_024700.3

c.1097A>G Glu366Gly Clinical

 

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