GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Identical variants grouped by clinical significance 

IndiGenome variants annotation

This program analyzed IndiGenomes metadata, annotated variants, and associated them with relevant conditions. Results are available here.

A total of 62 IndiGenomes variants homologous to ClinVar variants classified as 'pathogenic'
IndiGenomes vs ClinVar Notes GeneTIGS:RGD Gene symbol Clinical significance Phenotype List Review Status Variation/condition record
IndiGenomes ID:        chr1:236482455:G>A

ClinVar:GenTIGS ID: chr1:236482455:G>A

 

ClinVar Entry NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys)

 Ectodermal dysplasia
 EDARADD Pathogenic Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
 
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		 No Assertion Criteria Provided

2 Submitters

RCV000004407
RCV001729334
IndiGenomes ID:        chr2:232480717:C>A

ClinVar:GenTIGS ID: chr2:232480717:C>A

 

ClinVar Entry NM_004826.4(ECEL1):c.2151+1G>T

 Not in GenTIGS ECEL1 Pathogenic Distal arthrogryposis type 5D Criteria Provided
Single Submitter

1 Submitters

RCV001354049
IndiGenomes ID:        chr1:230236716:C>T

ClinVar:GenTIGS ID: chr1:230236716:C>T

 

ClinVar Entry NM_004481.5(GALNT2):c.598C>T (p.Arg200Ter)

 Congenital disorder of glycosylation
 GALNT2 Pathogenic Congenital disorder of glycosylation, type iit
 
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

3 Submitters

RCV001095798
RCV003442203
IndiGenomes ID:        chr2:227246017:G>A

ClinVar:GenTIGS ID: chr2:227246017:G>A

 

ClinVar Entry NM_000091.5(COL4A3):c.387+1G>A

 Goodpasture syndrome


Alport syndrome

 COL4A3 Pathogenic Hereditary hearing loss and deafness No Assertion Criteria Provided

1 Submitters

RCV001003416
IndiGenomes ID:        chr1:215970661:T>TTGGACTCTGAAGGAATG

ClinVar:GenTIGS ID: chr1:215970661:T>TTGGACTCTGAAGGAATG

 

ClinVar Entry NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs)

 Usher syndrome


Retinitis pigmentosa

 USH2A Pathogenic Condition: not provided
 
Usher syndrome
 
Usher syndrome type 2A
 
Retinitis pigmentosa 39		 Criteria Provided
Multiple Submitters
No Conflicts

4 Submitters

RCV001228843
RCV003389489
RCV003449720
RCV003462781
IndiGenomes ID:        chr1:209788590:G>A

ClinVar:GenTIGS ID: chr1:209788590:G>A

 

ClinVar Entry NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter)

 Van der Woude syndrome 1
 IRF6 Pathogenic Van der Woude syndrome 1
 
Popliteal pterygium syndrome
 
Van der Woude syndrome
 
Orofacial cleft 6, susceptibility to
 
Condition: not provided
 
Van der Woude syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

4 Submitters

RCV000556227
RCV000684776
RCV001584247
RCV003314608
IndiGenomes ID:        chr1:197090004:G>A

ClinVar:GenTIGS ID: chr1:197090004:G>A

 

ClinVar Entry NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter)

 Not in GenTIGS ASPM Pathogenic Microcephaly 5, primary, autosomal recessive
 
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

5 Submitters

RCV000145241
RCV000255897
IndiGenomes ID:        chr1:171103822:C>G

ClinVar:GenTIGS ID: chr1:171103822:C>G

 

ClinVar Entry NM_001002294.3(FMO3):c.170C>G (p.Ser57Ter)

 Trimethylaminuria
 FMO3 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 Submitters

RCV003562839
IndiGenomes ID:        chr4:169406633:C>A

ClinVar:GenTIGS ID: chr4:169406633:C>A

 

ClinVar Entry NM_001199397.3(NEK1):c.3337G>T (p.Glu1113Ter)

 Amyotrophic lateral sclerosis
 NEK1 Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly
 
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 Submitters

RCV001291528
RCV003127762
IndiGenomes ID:        chr1:156875009:G>A

ClinVar:GenTIGS ID: chr1:156875009:G>A

 

ClinVar Entry NM_002529.4(NTRK1):c.1354+1G>A

 Charcot-Marie-Tooth disease


Familial medullary thyroid carcinoma

 NTRK1 Pathogenic Hereditary insensitivity to pain with anhidrosis Criteria Provided
Multiple Submitters
No Conflicts

3 Submitters

RCV001784762
IndiGenomes ID:        chr1:155239937:G>A

ClinVar:GenTIGS ID: chr1:155239937:G>A

 

ClinVar Entry NM_000157.4(GBA1):c.256C>T (p.Arg86Ter)

 Gaucher disease
 GBA1 Pathogenic Gaucher disease Criteria Provided
Single Submitter

1 Submitters

RCV001779515
IndiGenomes ID:        chr5:148123905:C>T

ClinVar:GenTIGS ID: chr5:148123905:C>T

 

ClinVar Entry NM_006846.4(SPINK5):c.2611C>T (p.Arg871Ter)

 Netherton syndrome
 SPINK5 Pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter

1 Submitters

RCV003763906
IndiGenomes ID:        chr9:131512069:C>T

ClinVar:GenTIGS ID: chr9:131512069:C>T

 

ClinVar Entry NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)

 Limb-girdle muscular dystrophy
 POMT1 Pathogenic Condition: not provided
 
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1		 Criteria Provided
Multiple Submitters
No Conflicts

3 Submitters

RCV000734638
RCV003465669
IndiGenomes ID:        chr7:117665565:G>A

ClinVar:GenTIGS ID: chr7:117665565:G>A

 

ClinVar Entry NM_000492.4(CFTR):c.4242+1G>A

 Hereditary pancreatitis
 CFTR Pathogenic Cystic fibrosis
 
CFTR-related disorder
 
Bronchiectasis with or without elevated sweat chloride 1
 
Hereditary pancreatitis
 
Cystic fibrosis
 
Congenital bilateral aplasia of vas deferens from CFTR mutation		 Reviewed By Expert Panel

9 Submitters

RCV000576317
RCV001826684
RCV002504944
IndiGenomes ID:        chr7:117535287:C>T

ClinVar:GenTIGS ID: chr7:117535287:C>T

 

ClinVar Entry NM_000492.4(CFTR):c.619C>T (p.Gln207Ter)

 Hereditary pancreatitis
 CFTR Pathogenic Cystic fibrosis Criteria Provided
Single Submitter

2 Submitters

RCV001272230
IndiGenomes ID:        chr6:116617083:C>T

ClinVar:GenTIGS ID: chr6:116617083:C>T

 

ClinVar Entry NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter)

 Not in GenTIGS RSPH4A Pathogenic Primary ciliary dyskinesia 11
 
Primary ciliary dyskinesia		 Criteria Provided
Single Submitter

3 Submitters

RCV000000532
RCV000226196
IndiGenomes ID:        chr12:110614207:C>CTCCT

ClinVar:GenTIGS ID: chr12:110614207:C>CTCCT

 

ClinVar Entry NM_001082538.3(TCTN1):c.26_29dup (p.Val11fs)

 Joubert syndrome
 TCTN1 Pathogenic Joubert syndrome 13 Criteria Provided
Single Submitter

1 Submitters

RCV001335645
IndiGenomes ID:        chr11:102083171:A>G

ClinVar:GenTIGS ID: chr11:102083171:A>G

 

ClinVar Entry NM_032930.3(CFAP300):c.776A>G (p.His259Arg)

 Ciliary dyskinesia
 CFAP300 Pathogenic Ciliary dyskinesia, primary, 38 No Assertion Criteria Provided

1 Submitters

RCV000664433
IndiGenomes ID:        chr12:101749181:G>A

ClinVar:GenTIGS ID: chr12:101749181:G>A

 

ClinVar Entry NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter)

 Mucolipidosis type II
 GNPTAB Pathogenic Pseudo-Hurler polydystrophy
 
Mucolipidosis type II
 
Mucolipidosis type II
 
Pseudo-Hurler polydystrophy
 
Mucolipidosis
 
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

8 Submitters

RCV000031986
RCV000032344
RCV000670953
RCV001193437
RCV003488353
IndiGenomes ID:        chr9:101429754:C>T

ClinVar:GenTIGS ID: chr9:101429754:C>T

 

ClinVar Entry NM_000035.4(ALDOB):c.324+1G>A

 Hereditary fructosuria
 ALDOB Pathogenic Hereditary fructosuria Criteria Provided
Multiple Submitters
No Conflicts

6 Submitters

RCV000202622
IndiGenomes ID:        chr13:101073631:G>A

ClinVar:GenTIGS ID: chr13:101073631:G>A

 

ClinVar Entry NM_052867.4(NALCN):c.4150C>T (p.Arg1384Ter)

 Arthrogryposis multiplex congenita
 NALCN Pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
 
NALCN-related disorder
 
Congenital contractures of the limbs and face, hypotonia, and developmental delay		 Criteria Provided
Multiple Submitters
No Conflicts

3 Submitters

RCV000845225
RCV003336223
RCV003984848
IndiGenomes ID:        chr1:94000900:G>A

ClinVar:GenTIGS ID: chr1:94000900:G>A

 

ClinVar Entry NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp)

 Cone rod dystrophy


Stargardt disease

 ABCA4 Pathogenic Condition: not provided Criteria Provided
Single Submitter

2 Submitters

RCV000085818
IndiGenomes ID:        chr7:92503105:A>T

ClinVar:GenTIGS ID: chr7:92503105:A>T

 

ClinVar Entry NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter)

 Peroxisome biogenesis disorder
 PEX1 Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter

1 Submitters

RCV001901725
IndiGenomes ID:        chr14:91314114:G>A

ClinVar:GenTIGS ID: chr14:91314114:G>A

 

ClinVar Entry NM_001080414.4(CCDC88C):c.1702C>T (p.Arg568Ter)

 Spastic ataxia


Spinocerebellar ataxia type 40

 CCDC88C Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 Submitters

RCV003721104
IndiGenomes ID:        chr5:90629303:C>T

ClinVar:GenTIGS ID: chr5:90629303:C>T

 

ClinVar Entry NM_032119.4(ADGRV1):c.1603C>T (p.Arg535Ter)

 Usher syndrome


Retinitis pigmentosa

 ADGRV1 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 Submitters

RCV002701346
IndiGenomes ID:        chr8:89971175:G>A

ClinVar:GenTIGS ID: chr8:89971175:G>A

 

ClinVar Entry NM_002485.5(NBN):c.700C>T (p.Gln234Ter)

 Hereditary breast ovarian cancer syndrome
 NBN Pathogenic Microcephaly, normal intelligence and immunodeficiency Criteria Provided
Single Submitter

1 Submitters

RCV003618236
IndiGenomes ID:        chr15:89210759:C>T

ClinVar:GenTIGS ID: chr15:89210759:C>T

 

ClinVar Entry NM_000326.5(RLBP1):c.735G>A (p.Trp245Ter)

 Retinitis pigmentosa
 RLBP1 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 Submitters

RCV003578696
IndiGenomes ID:        chr16:88822614:C>T

ClinVar:GenTIGS ID: chr16:88822614:C>T

 

ClinVar Entry NM_000512.5(GALNS):c.1339G>A (p.Asp447Asn)

 Mucopolysaccharidosis, MPS-IV-A
 GALNS Pathogenic Mucopolysaccharidosis, MPS-IV-A Criteria Provided
Single Submitter

1 Submitters

RCV003599212
IndiGenomes ID:        chr16:88810517:G>A

ClinVar:GenTIGS ID: chr16:88810517:G>A

 

ClinVar Entry NM_000485.3(APRT):c.227C>T (p.Ala76Val)

 Adenine phosphoribosyltransferase deficiency
 APRT Pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter

1 Submitters

RCV001269439
IndiGenomes ID:        chr12:88071890:T>TA

ClinVar:GenTIGS ID: chr12:88071890:T>TA

 

ClinVar Entry NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter)

 Retinitis pigmentosa


Joubert syndrome


Leber congenital amaurosis


Bardet-Biedl syndrome


Nephronophthisis


Senior-Loken syndrome

 CEP290 Pathogenic Meckel syndrome, type 4
 
Meckel-Gruber syndrome
 
Familial aplasia of the vermis
 
Nephronophthisis
 
Bardet-Biedl syndrome 14		 Criteria Provided
Multiple Submitters
No Conflicts

3 Submitters

RCV000656738
RCV001208507
RCV003465425
IndiGenomes ID:        chr12:88055666:A>AT

ClinVar:GenTIGS ID: chr12:88055666:A>AT

 

ClinVar Entry NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)

 Retinitis pigmentosa


Joubert syndrome


Leber congenital amaurosis


Bardet-Biedl syndrome


Nephronophthisis


Senior-Loken syndrome

 CEP290 Pathogenic Leber congenital amaurosis 10
 
Nephronophthisis
 
Familial aplasia of the vermis
 
Meckel-Gruber syndrome
 
Retinal dystrophy
 
CEP290-related disorder
 
Leber congenital amaurosis
 
Bardet-Biedl syndrome 14
 
Leber congenital amaurosis 10
 
Meckel syndrome, type 4
 
Bardet-Biedl syndrome 14
 
Senior-Loken syndrome 6
 
Joubert syndrome 5		 Criteria Provided
Multiple Submitters
No Conflicts

7 Submitters

RCV000144468
RCV000457302
RCV001075551
RCV002271421
RCV001276483
RCV003467204
RCV002483278
IndiGenomes ID:        chr14:87939926:A>T

ClinVar:GenTIGS ID: chr14:87939926:A>T

 

ClinVar Entry NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter)

 Spastic ataxia
 GALC Pathogenic Galactosylceramide beta-galactosidase deficiency
 
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

3 Submitters

RCV000411823
RCV000482303
IndiGenomes ID:        chr1:85267841:G>A

ClinVar:GenTIGS ID: chr1:85267841:G>A

 

ClinVar Entry NM_003921.5(BCL10):c.488C>T (p.Thr163Met)

 Sezary syndrome


Mucosa-associated lymphoma

 BCL10 Pathogenic Malignant tumor of testis No Assertion Criteria Provided

1 Submitters

RCV000023309
IndiGenomes ID:        chr10:84208210:C>T

ClinVar:GenTIGS ID: chr10:84208210:C>T

 

ClinVar Entry NM_033100.4(CDHR1):c.1000C>T (p.Gln334Ter)

 Retinitis pigmentosa
 CDHR1 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 Submitters

RCV001383463
IndiGenomes ID:        chr11:68906198:C>G

ClinVar:GenTIGS ID: chr11:68906198:C>G

 

ClinVar Entry NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter)

 Charcot-Marie-Tooth disease
 IGHMBP2 Pathogenic Autosomal recessive distal spinal muscular atrophy 1
 
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Single Submitter

1 Submitters

RCV001038862
IndiGenomes ID:        chr12:68731651:C>T

ClinVar:GenTIGS ID: chr12:68731651:C>T

 

ClinVar Entry NM_020401.4(NUP107):c.1930C>T (p.Arg644Ter)

 Galloway-Mowat syndrome
 NUP107 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 Submitters

RCV003031434
IndiGenomes ID:        chr1:68439640:T>A

ClinVar:GenTIGS ID: chr1:68439640:T>A

 

ClinVar Entry NM_000329.3(RPE65):c.646A>T (p.Lys216Ter)

 Leber congenital amaurosis
 RPE65 Pathogenic Retinitis pigmentosa 20
 
Leber congenital amaurosis 2		 Criteria Provided
Single Submitter

1 Submitters

RCV003804670
IndiGenomes ID:        chr16:56902446:G>T

ClinVar:GenTIGS ID: chr16:56902446:G>T

 

ClinVar Entry NM_001126108.2(SLC12A3):c.2794G>T (p.Glu932Ter)

 Bartter syndrome


Familial hypokalemia-hypomagnesemia

 SLC12A3 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 Submitters

RCV001949666
IndiGenomes ID:        chr5:53108556:G>A

ClinVar:GenTIGS ID: chr5:53108556:G>A

 

ClinVar Entry NM_176806.4(MOCS2):c.106C>T (p.Gln36Ter)

 Sulfite oxidase deficiency
 MOCS2 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 Submitters

RCV002007215
IndiGenomes ID:        chr13:51944170:C>T

ClinVar:GenTIGS ID: chr13:51944170:C>T

 

ClinVar Entry NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu)

 Wilson disease
 ATP7B Pathogenic Not specified
 
Wilson disease
 
Inborn genetic diseases
 
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

15 Submitters

RCV000506750
RCV000395391
RCV002321983
RCV001558379
IndiGenomes ID:        chr7:50470090:G>A

ClinVar:GenTIGS ID: chr7:50470090:G>A

 

ClinVar Entry NM_001082971.2(DDC):c.1123C>T (p.Gln375Ter)

 Aromatic L-amino acid decarboxylase deficiency
 DDC Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Multiple Submitters
No Conflicts

2 Submitters

RCV003838905
IndiGenomes ID:        chr17:47945558:G>A

ClinVar:GenTIGS ID: chr17:47945558:G>A

 

ClinVar Entry NM_018129.4(PNPO):c.364-1G>A

 Pyridoxal phosphate-responsive seizures
 PNPO Pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Multiple Submitters
No Conflicts

3 Submitters

RCV000006897
IndiGenomes ID:        chr21:46119852:T>C

ClinVar:GenTIGS ID: chr21:46119852:T>C

 

ClinVar Entry NM_001849.4(COL6A2):c.1332+2T>C

 Bethlem myopathy
 COL6A2 Pathogenic Bethlem myopathy 1A Criteria Provided
Single Submitter

1 Submitters

RCV001918252
IndiGenomes ID:        chr17:44901113:C>T

ClinVar:GenTIGS ID: chr17:44901113:C>T

 

ClinVar Entry NM_213607.3(CCDC103):c.115C>T (p.Gln39Ter)

 Not in GenTIGS CCDC103 Pathogenic Primary ciliary dyskinesia Criteria Provided
Multiple Submitters
No Conflicts

2 Submitters

RCV000467115
IndiGenomes ID:        chr2:43851647:C>A

ClinVar:GenTIGS ID: chr2:43851647:C>A

 

ClinVar Entry NM_022437.3(ABCG8):c.386C>A (p.Ser129Ter)

 Sitosterolemia
 ABCG8 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 Submitters

RCV003109206
IndiGenomes ID:        chr17:42911016:G>A

ClinVar:GenTIGS ID: chr17:42911016:G>A

 

ClinVar Entry NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg)

 Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
 G6PC1 Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Criteria Provided
Multiple Submitters
No Conflicts

3 Submitters

RCV001235195
IndiGenomes ID:        chr1:42750250:G>T

ClinVar:GenTIGS ID: chr1:42750250:G>T

 

ClinVar Entry NM_022356.4(P3H1):c.1656C>A (p.Tyr552Ter)

 Osteogenesis imperfecta
 P3H1 Pathogenic Osteogenesis imperfecta type 8 No Assertion Criteria Provided

1 Submitters

RCV000001318
IndiGenomes ID:        chr1:42747722:C>T

ClinVar:GenTIGS ID: chr1:42747722:C>T

 

ClinVar Entry NM_022356.4(P3H1):c.1914+1G>A

 Osteogenesis imperfecta
 P3H1 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 Submitters

RCV003494626
IndiGenomes ID:        chr15:42410958:G>C

ClinVar:GenTIGS ID: chr15:42410958:G>C

 

ClinVar Entry NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)

 Limb-girdle muscular dystrophy
 CAPN3 Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A
 
Condition: not provided
 
Muscular dystrophy, limb-girdle, autosomal dominant 4		 Criteria Provided
Multiple Submitters
No Conflicts

12 Submitters

RCV000176251
RCV000386470
RCV003474930
IndiGenomes ID:        chr13:38690828:C>T

ClinVar:GenTIGS ID: chr13:38690828:C>T

 

ClinVar Entry NM_207361.6(FREM2):c.3484C>T (p.Arg1162Ter)

 Fraser syndrome


Congenital diaphragmatic hernia

 FREM2 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 Submitters

RCV003868561
IndiGenomes ID:        chr19:35848087:C>T

ClinVar:GenTIGS ID: chr19:35848087:C>T

 

ClinVar Entry NM_004646.4(NPHS1):c.1394G>A (p.Cys465Tyr)

 Finnish congenital nephrotic syndrome
 NPHS1 Pathogenic Finnish congenital nephrotic syndrome Criteria Provided
Single Submitter

2 Submitters

RCV000049852
IndiGenomes ID:        chr3:33068940:C>T

ClinVar:GenTIGS ID: chr3:33068940:C>T

 

ClinVar Entry NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)

 GM1 gangliosidosis type 2


Infantile GM1 gangliosidosis

 GLB1 Pathogenic GM1 gangliosidosis type 3
 
GM1 gangliosidosis type 2
 
Mucopolysaccharidosis, MPS-IV-B
 
Infantile GM1 gangliosidosis
 
Infantile GM1 gangliosidosis
 
Condition: not provided
 
Mucopolysaccharidosis, MPS-IV-B
 
GM1 gangliosidosis		 Criteria Provided
Multiple Submitters
No Conflicts

5 Submitters

RCV000670448
RCV000766231
RCV001091797
RCV001387511
IndiGenomes ID:        chr2:31373894:T>TG

ClinVar:GenTIGS ID: chr2:31373894:T>TG

 

ClinVar Entry NM_000379.4(XDH):c.1664dup (p.Ala556fs)

 Xanthinuria type II
 XDH Pathogenic Xanthinuria type II Criteria Provided
Single Submitter

1 Submitters

RCV002944197
IndiGenomes ID:        chr22:20994728:G>C

ClinVar:GenTIGS ID: chr22:20994728:G>C

 

ClinVar Entry NM_006767.4(LZTR1):c.1785+1G>C

 Noonan syndrome


Schwannomatosis


Congenital diaphragmatic hernia

 LZTR1 Pathogenic Noonan syndrome 10 Criteria Provided
Single Submitter

1 Submitters

RCV001264409
IndiGenomes ID:        chr22:20983039:C>CA

ClinVar:GenTIGS ID: chr22:20983039:C>CA

 

ClinVar Entry NM_006767.4(LZTR1):c.214dup (p.Thr72fs)

 Noonan syndrome


Schwannomatosis


Congenital diaphragmatic hernia

 LZTR1 Pathogenic Cardiovascular phenotype
 
Hereditary cancer-predisposing syndrome		 Criteria Provided
Single Submitter

1 Submitters

RCV002432437
IndiGenomes ID:        chr17:16948877:G>T

ClinVar:GenTIGS ID: chr17:16948877:G>T

 

ClinVar Entry NM_012452.3(TNFRSF13B):c.306C>A (p.Tyr102Ter)

 Common variable immune deficiency
 TNFRSF13B Pathogenic Immunodeficiency, common variable, 2 Criteria Provided
Single Submitter

1 Submitters

RCV002765802
IndiGenomes ID:        chr19:12893515:T>C

ClinVar:GenTIGS ID: chr19:12893515:T>C

 

ClinVar Entry NM_000159.4(GCDH):c.367T>C (p.Tyr123His)

 Glutaric aciduria, type 1
 GCDH Pathogenic Glutaric aciduria, type 1 Criteria Provided
Single Submitter

1 Submitters

RCV003873989
IndiGenomes ID:        chr17:8072842:G>T

ClinVar:GenTIGS ID: chr17:8072842:G>T

 

ClinVar Entry NM_001139.3(ALOX12B):c.2035C>A (p.Arg679Ser)

 Lamellar ichthyosis
 ALOX12B Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided

1 Submitters

RCV001289926
IndiGenomes ID:        chr19:6718117:G>A

ClinVar:GenTIGS ID: chr19:6718117:G>A

 

ClinVar Entry NM_000064.4(C3):c.481C>T (p.Arg161Trp)

 C3 Pathogenic Condition: not provided
 
Atypical hemolytic-uremic syndrome with C3 anomaly		 Criteria Provided
Multiple Submitters
No Conflicts

4 Submitters

RCV001507921
RCV002466678
IndiGenomes ID:        chr6:5613216:G>T

ClinVar:GenTIGS ID: chr6:5613216:G>T

 

ClinVar Entry NM_006567.5(FARS2):c.1113G>T (p.Leu371Phe)

 Hereditary spastic paraplegia
 FARS2 Pathogenic Combined oxidative phosphorylation defect type 14 No Assertion Criteria Provided

1 Submitters

RCV001250395
IndiGenomes ID:        chr16:3757373:C>A

ClinVar:GenTIGS ID: chr16:3757373:C>A

 

ClinVar Entry NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter)

 Glioblastoma


Multiple myeloma

 CREBBP Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter

1 Submitters

RCV000145738
IndiGenomes ID:        chr9:452071:C>T

ClinVar:GenTIGS ID: chr9:452071:C>T

 

ClinVar Entry NM_203447.4(DOCK8):c.6022C>T (p.Arg2008Ter)

 Not in GenTIGS DOCK8 Pathogenic Autosomal recessive hyper-IgE syndrome Criteria Provided
Single Submitter

1 Submitters

RCV003763455

 
Conceptualized, designed and developed by Dr. Iliyas Rashid
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