Screening #0000000058

Individual ID 00000058
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 18
Owner name Global Variome, with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 6 p22 2 527 116 2020-09-15 ID, SSADHD
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 426 214 2020-09-15 Wilson
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 1592 605 2020-09-21 BESC-1, CBAVD, CF, PCTT
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 656 433 2020-09-15 adrenal hyperplasia
GBA glucosidase, beta, acid 1 q22 1 70 46 2020-09-15 PD, Acute neuronopathic Gaucher's disease, Gaucher disease type 3C, Gaucher disease, perinatal lethal, Gaucher's disease, type 1, Lewy body dementia, Subacute neuronopathic Gaucher's disease
HEXB hexosaminidase B (beta polypeptide) 5 q13.3 1 85 42 2020-09-15 Sandhoff
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 409 217 2020-09-15 CMT-2S, DSMA-1
MEFV Mediterranean fever 16 p13.3 1 587 306 2020-09-15 FMF, FMFD
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 93 58 2020-09-15 ID, Griscelli syndrome, type 1
NHLRC1 NHL repeat containing 1 6 p22.3 1 84 18 2020-09-15 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 341 201 2020-09-15 NPHS, NPHS-1
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 6 p21.2-p12 1 618 497 2020-09-15 PKD4
PMM2 phosphomannomutase 2 16 p13 1 320 91 2020-09-15 CDG-1A, ID
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 298 81 2020-09-15 AATD, COPD
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 108 53 2020-09-15 ACG, ACG-1B, AO-2, DTD, EDM-4
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 229 147 2020-09-15 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B



Variants found

18 entries on 1 page. Showing entries 1 - 18.
Legend  

Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
1 Unknown ?/. - VUS g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma GBA - - - - - - NM_000157.3:c.1226A>G - r.(?) p.(Asn409Ser) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.155210452dup g.155240661dup - - GBA_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma GBA - - - - - - NM_000157.3:c.84dup - r.(?) p.(Leu29Alafs*18) - - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. - VUS g.73992881A>G g.74697056A>G - - HEXB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HEXB - - - - - 5 NM_000521.3:c.619A>G - r.(?) p.(Ile207Val) - - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SLC26A2 - - - - - 3 NM_000112.3:c.2065A>T - r.(?) p.(Thr689Ser) - - - - - - - - - - - - - - - - - - - -
6 Both (homozygous) ?/. - VUS g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HTT, NHLRC1 - - - - - 2i NM_002111.6:c.348-2680C=, NM_198586.2:c.332C>T - r.(?) p.(=), p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.24533938T>C g.24533710T>C - - ALDH5A1_000115 - - - - Germline - - - 0 - Gerard C.P. Schaafsma ALDH5A1 - - - - - , 11 NM_001080.3:c.1606T>C, NM_170740.1:c.1645T>C - r.(?) p.(*536Glnext*6), p.(*549Glnext*6) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.32006387A>T g.32038610A>T - - CYP21A2_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 - - - - - 1 NM_000500.7:c.188A>T - r.(?) p.(His63Leu) - - - - - - - - - - - - - - - - - - - -
6 Both (homozygous) ?/. - VUS g.51893107T>C g.52028309T>C - - PKHD1_000006 - - - - Germline - - - 0 - Gerard C.P. Schaafsma PKHD1 - - - - - 30 NM_138694.3:c.3407A>G - r.(?) p.(Tyr1136Cys) - - - - - - - - - - - - - - - - - - - -
7 Unknown ?/. - VUS g.117267812T>G g.117627758T>G - - CFTR_000051 - - - - Unknown - - - 0 - Global Variome, with Curator vacancy CFTR - - - - - 22 NM_000492.3:c.3705T>G - r.(?) p.(Ser1235Arg) - - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. - VUS g.6415463G>A g.6394233G>A - - SMPD1_000101 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SMPD1 - - - - - - NM_000543.3:c.1522G>A - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma IGHMBP2 - - - - - 14 NM_002180.2:c.2636C>A - r.(?) p.(Thr879Lys) - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) ?/. - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B - - - - - - NM_000053.3:c.3419T>C - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - -
14 Unknown ?/. - VUS g.94844843T>G g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.1200A>C - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - -
14 Unknown ?/. - VUS g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.710T>C - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - -
15 Unknown ?/. - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A - - - - - - NM_000259.3:c.3736C>T - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. - VUS g.3304463C>T g.3254463C>T - - MEFV_000001 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV - - - - - 2 NM_000243.2:c.605G>A - r.(?) p.(Arg202Gln) - - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. - VUS g.8906914A>C g.8813057A>C - - PMM2_000049 - PubMed: Bell 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma PMM2 - - - - - 7 NM_000303.2:c.590A>C - r.(?) p.(Glu197Ala) - - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.349G>A - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - - -
Legend