Screening #0000000010

Individual ID 00000010
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 13
Owner name Global Variome, with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1 p31 1 29 16 2020-08-06 Medium-chain acyl-coenzyme A dehydrogenase deficiency
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 425 213 2020-08-13 Wilson
BTD biotinidase 3 p25 1 364 152 2020-08-06 deficiency, biotinidase
CLN3 ceroid-lipofuscinosis, neuronal 3 16 p12 1 589 117 2020-08-06 CLN, CLN-3
CPT1A carnitine palmitoyltransferase 1A (liver) 11 q13.2 1 37 24 2020-08-06 carnitine palmitoyltransferase I deficiency
DGUOK deoxyguanosine kinase 2 p13 1 24 15 2020-06-24 MTDPS-3
ERCC6 excision repair cross-complementing rodent repair deficiency, complementation group 6 10 q11 1 147 114 2020-06-26 ACLC, ARMD-5, COFS-1, CS, CSB, ID, UVSS, De Sanctis-Cacchione syndrome
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 85 16 2020-08-06 MADD
NHLRC1 NHL repeat containing 1 6 p22.3 1 84 18 2020-08-06 epilepsy, myoclonic, of Lafora
PAH phenylalanine hydroxylase 12 q22-q24.2 1 216 140 2020-08-06 PKU



Variants found

13 entries on 1 page. Showing entries 1 - 13.
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.76226846A>G g.75761161A>G - - ACADM_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma ACADM - - - - - - NM_000016.4:c.985A>G - r.(?) p.(Lys329Glu) - - - - - - - - - - - - - - - - - - - -
2 Unknown ?/. - VUS g.74177777A>G g.73950650A>G - - DGUOK_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DGUOK - - - - - - NM_080916.1:c.509A>G - r.(?) p.(Gln170Arg) - - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. - VUS g.15686693G>C g.15645186G>C - - BTD_000021 - - - - Germline - - - - - Gerard C.P. Schaafsma BTD - - - - - - NM_000060.2:c.1330G>C - r.(?) p.(Asp444His) - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - -
10 Unknown ?/. - VUS g.50682080G>C g.49474034G>C - - ERCC6_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma ERCC6, HTT - - - - - 2i NM_000124.2:c.2591C>G, NM_002111.6:c.348-2680C= - r.(?) p.(Ser864*), p.(=) - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - -
12 Unknown ?/. - VUS g.103234270C>T g.102840492C>T - - PAH_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma PAH - - - - - - NM_000277.1:c.1223G>A - r.(?) p.(Arg408Gln) - - - - - - - - - - - - - - - - - - - -
12 Unknown ?/. - VUS g.103246593G>A g.102852815G>A - - PAH_000003 - PAH record 309 - - Germline - - - 0 - Gerard C.P. Schaafsma PAH - - - - - 7 NM_000277.1:c.842C>T - r.(?) p.(Pro281Leu) - - - - - - - - - - - - - - - - - - - -
13 Unknown ?/. - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B - - - - - - NM_000053.3:c.3419T>C - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - -
15 Unknown -?/-? - likely benign g.91565459C>T g.91022229C>T - - VPS33B_000214 - - - - Unknown - - - 0 - Paul Gissen VPS33B - - - - - 1 NM_018668.3:c.21G>A - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. - VUS g.28497286_28498251del g.28485965_28486930del UNDEFINED; IN VICINITY OF INTRONS 6-8, EXONS7-8, CHR16:28405752_28404787 - CLN3_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma CLN3 - - - - - - NM_001042432.1:c.461-280_677+382del - r.(?) p.(Gly154Alafs*29) - - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma CLN3 - - - - - - NM_001042432.1:c.461-280_677+382del - r.(?) p.(Gly154Alafs*29) - - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) ?/. - 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