Screening #0000000100

Individual ID 00000100
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 12
Owner name Global Variome, with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 9 q34 1 104 77 2020-08-06 TTP
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 425 213 2020-08-13 Wilson
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 1439 524 2020-08-06 BESC-1, CBAVD, CF, PCTT
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 85 16 2020-08-06 MADD
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 2 p23 1 28 23 2020-08-06 long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, mitochondrial trifunctional protein deficiency (MTPD)
HESX1 HESX homeobox 1 3 p14.3 1 25 12 2020-08-06 ID, dysplasia, septo-optic
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 8 p11.1 1 265 118 2020-08-06 MPS-3C, RP73
LAMA2 laminin, alpha 2 6 q22-q23 1 2054 645 2020-08-06 ID, LGMDR-23, MDC, MDC-1A
NHLRC1 NHL repeat containing 1 6 p22.3 1 84 18 2020-08-06 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 336 198 2020-08-06 NPHS, NPHS-1
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 6 p21.2-p12 1 608 490 2020-08-06 PKD4
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 297 81 2020-08-06 AATD, COPD



Variants found

12 entries on 1 page. Showing entries 1 - 12.
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     
2 Unknown ?/. - VUS g.26432662G>T g.26209793G>T - - HADHA_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HADHA - - - - - - NM_000182.4:c.1072C>A - r.(?) p.(Gln358Lys) - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) ?/. - VUS g.57232504T>C g.57198476T>C - - HESX1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HESX1 - - - - - - NM_003865.2:c.374A>G - r.(?) p.(Asn125Ser) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 - - - - - - NM_198586.2:c.332C>T - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.51917987G>C g.52053189G>C - - PKHD1_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma PKHD1 - - - - - 21 NM_138694.3:c.2027C>G - r.(?) p.(Pro676Arg) - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - -
7 Unknown ?/. - VUS g.117180284C>T g.117540230C>T - - CFTR_000026 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR - - - - - 8 NM_000492.3:c.1000C>T - r.(?) p.(Arg334Trp) - - - - - - - - - - - - - - - - - - - -
8 Unknown ?/. - VUS g.43052839A>C g.43197696A>C - - HGSNAT_000023 - - - - Germline - - - - - Gerard C.P. Schaafsma HGSNAT - - - - - - NM_152419.2:c.1567A>C - r.(?) p.(Lys523Gln) - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/. - VUS g.136319562T>G g.133454440T>G - - ADAMTS13_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma ADAMTS13 - - - - - - NM_139025.3:c.3070T>G - r.(?) p.(Cys1024Gly) - - - - - - - - - - - - - - - - - - - -
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.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.710T>C - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. - VUS g.36322601T>C g.35831699T>C - - NPHS1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.3230A>G - r.(?) p.(Asn1077Ser) - - - - - - - - - - - - - - - - - - - -
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