IndiGenome variants annotation Total 62 identically mapped variants with 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 |
| 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 |
| 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 |
| 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 |
COL4A3 | Pathogenic | Hereditary hearing loss and deafness | No Assertion Criteria Provided |
1 Submitters |
| 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 |
USH2A | Pathogenic | Condition: not provided Usher syndrome Usher syndrome type 2A Retinitis pigmentosa 39 |
Criteria Provided Multiple Submitters No Conflicts |
4 Submitters |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
NTRK1 | Pathogenic | Hereditary insensitivity to pain with anhidrosis | Criteria Provided Multiple Submitters No Conflicts |
3 Submitters |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
ABCA4 | Pathogenic | Condition: not provided | Criteria Provided Single Submitter |
2 Submitters |
| 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 |
| 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 |
CCDC88C | Pathogenic | Condition: not provided | Criteria Provided Single Submitter |
1 Submitters |
| 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 |
ADGRV1 | Pathogenic | Condition: not provided | Criteria Provided Single Submitter |
1 Submitters |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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 |
| 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 |
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 |
| 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 |
| 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 |
BCL10 | Pathogenic | Malignant tumor of testis | No Assertion Criteria Provided |
1 Submitters |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
SLC12A3 | Pathogenic | Condition: not provided | Criteria Provided Single Submitter |
1 Submitters |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
FREM2 | Pathogenic | Condition: not provided | Criteria Provided Single Submitter |
1 Submitters |
| 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 |
| 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 |
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 |
| 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 |
| 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 |
LZTR1 | Pathogenic | Noonan syndrome 10 | Criteria Provided Single Submitter |
1 Submitters |
| 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 |
LZTR1 | Pathogenic | Cardiovascular phenotype Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
1 Submitters |
| 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 |
| 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 |
| 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 |
| 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 |
|
| 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 |
| 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 |
CREBBP | Pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | Criteria Provided Single Submitter |
1 Submitters |
| 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 |