Screening #0000000084

Individual ID 00000084
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 11
Owner name Global Variome, with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ADA adenosine deaminase 20 q13.12 1 84 52 2020-08-06 Severe combined immunodeficiency due to ADA deficiency
CPT1A carnitine palmitoyltransferase 1A (liver) 11 q13.2 1 37 24 2020-08-06 carnitine palmitoyltransferase I deficiency
FKRP fukutin related protein 19 q13.3 1 959 236 2020-08-06 ID, LGMD-2, LGMD-2I;MDDGC-5, MDDGA-5, MDDGB-6
GAA glucosidase, alpha; acid 17 q25.2-q25.3 1 2938 760 2020-08-06 GSD, GSD-2
GLB1 galactosidase, beta 1 3 p22.3 1 216 98 2020-08-06 gangliosidosis, gangliosidosis-I, gangliosidosis-II, gangliosidosis-III, MPS4B
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 92 58 2020-08-06 ID, Griscelli syndrome, type 1
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
RAG1 recombination activating gene 1 11 p13 1 63 52 2020-08-06 CCHIDG, Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, Omenn syndrome, Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 297 81 2020-08-06 AATD, COPD
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

11 entries on 1 page. Showing entries 1 - 11.
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 Both (homozygous) ?/. - 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.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 - - - - - - NM_198586.2:c.332C>T - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - -
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.36596200G>A g.36574650G>A - - RAG1_000021 - - - - Germline - - - - - Gerard C.P. Schaafsma RAG1 - - - - - - NM_000448.2:c.1346G>A - r.(?) p.(Arg449Lys) - - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. - VUS g.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CPT1A - - - - - - NM_001876.3:c.823G>A - r.(?) p.(Ala275Thr) - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. - VUS g.78078656G>A g.80104857G>A - - GAA_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma GAA - - - - - 2 NM_000152.3:c.271G>A - r.(?) p.(Asp91Asn) - - - - - - - - - - - - - - - - - - - -
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 +/+ - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma FKRP - - - - - 4 NM_024301.4:c.826C>A - r.(?) p.(Leu276Ile) - - - - - - - - - - - - - - - - - - - -
20 Unknown ?/. - VUS g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA - - - - - - NM_000022.2:c.239A>G - r.(?) p.(Lys80Arg) - - - - - - - - - - - - - - - - - - - -
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