Screening #0000000018

Individual ID 00000018
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 15
Owner name Global Variome, with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ALG6 asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) 1 p31.3 1 49 21 2020-08-06 CDG-1C, ID
ASPA aspartoacylase 17 p13.3 1 214 87 2020-08-06 Canavan, ID
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 425 213 2020-08-13 Wilson
DPYD dihydropyrimidine dehydrogenase 1 p22 1 199 58 2020-08-06 DMB-p, DPDD, ID
GLB1 galactosidase, beta 1 3 p22.3 1 216 98 2020-08-06 gangliosidosis, gangliosidosis-I, gangliosidosis-II, gangliosidosis-III, MPS4B
LAMA2 laminin, alpha 2 6 q22-q23 1 2054 645 2020-08-06 ID, LGMDR-23, MDC, MDC-1A
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 1 p34.1 1 48 32 2020-08-06 ID, MAHCC
MPL myeloproliferative leukemia virus oncogene 1 p34 1 32 20 2020-08-06 CAMT, myelofibrosis, THCYT-2
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
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

15 entries on 1 page. Showing entries 1 - 15.
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.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MPL - - - - - - NM_005373.2:c.340G>A - r.(?) p.(Val114Met) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.45973217dup g.45507545dup - - MMACHC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MMACHC - - - - - - NM_015506.2:c.271dup - r.(?) p.(Arg91Lysfs*14) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma ALG6, PRKAR1A - - - - - 6, 11 NM_013339.3:c.391T>C, NM_002734.4:c.1003C>T - r.(?), r.(1003c>u) p.(Tyr131His), p.(Arg335Cys) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD - - - - - - NM_000110.3:c.1627A>G - r.(?) p.(Ile543Val) - - - - - - - - - - - - - - - - - - - -
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.(=) - - - - - - - - - - - - - - - - - - - -
4 Maternal (confirmed) -/- - benign g.41748001_41748015del g.41745984_41745998del - - PHOX2B_000030 - PubMed: Arai 2007, Journal: Arai 2007 - - Germline - - - 0 - Johan den Dunnen PHOX2B - - - - - 3 NM_003924.3:c.765_779del Ala-15 r.(?) p.(Ala256_Ala260del) - - - - - - - - - - - - - - - - - - - -
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.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) - - - - - - - - - - - - - - - - - - - -
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.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.374G>A - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - - -
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.3397702C>A g.3494408C>A - - ASPA_008005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma ASPA - - - - - 5 NM_000049.2:c.693C>A - r.(?) p.(Tyr231*) - - - - - - - - - - - - - - - - - - - -
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