Screening #0000000092

Individual ID 00000092
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 8
Owner name Global Variome, with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 18 q21 1 48 38 2020-08-06 BRIC-1, ICP-1, PFIC, PFIC-1
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 85 16 2020-08-06 MADD
GLB1 galactosidase, beta 1 3 p22.3 1 216 98 2020-08-06 gangliosidosis, gangliosidosis-I, gangliosidosis-II, gangliosidosis-III, MPS4B
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 403 214 2020-08-06 CMT-2S, DSMA-1
LAMA2 laminin, alpha 2 6 q22-q23 1 2054 645 2020-08-06 ID, LGMDR-23, MDC, MDC-1A
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 92 58 2020-08-06 ID, Griscelli syndrome, type 1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 336 198 2020-08-06 NPHS, NPHS-1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 225 147 2020-08-06 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B



Variants found

8 entries on 1 page. Showing entries 1 - 8.
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     
3 Unknown ?/. - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma GLB1, TMPPE - - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - r.(?), r.(=) p.(Pro10Leu), p.(=) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - Gerard C.P. Schaafsma LAMA2 - - - - - 24 NM_000426.3:c.3412G>A - r.(?) p.(Val1138Met) - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - -
18 Both (homozygous) ?/. - VUS g.55336626A>G g.57669394A>G - - ATP8B1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP8B1 - - - - - - NM_005603.4:c.2021T>C - r.(?) p.(Met674Thr) - - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) ?/. - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.349G>A - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. - VUS g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ETFB - - - - - - NM_001014763.1:c.734C>T, NM_001985.2:c.461C>T - r.(?) p.(Thr245Met), p.(Thr154Met) - - - - - - - - - - - - - - - - - - - -
Legend