Screening #0000000107

Individual ID 00000107
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
ADA adenosine deaminase 20 q13.12 1 84 52 2020-08-06 Severe combined immunodeficiency due to ADA deficiency
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
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 647 431 2020-08-06 adrenal hyperplasia
GLB1 galactosidase, beta 1 3 p22.3 1 216 98 2020-08-06 gangliosidosis, gangliosidosis-I, gangliosidosis-II, gangliosidosis-III, MPS4B
MEFV Mediterranean fever 16 p13.3 1 581 306 2020-08-06 FMF, FMFD
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
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 107 52 2020-08-06 ACG, ACG-1B, AO-2, DTD, EDM-4
WNT10A wingless-type MMTV integration site family, member 10A 2 q35 1 111 25 2020-08-06 OODD, SSPS, STHAG-4



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     
2 Unknown ?/. - VUS g.219755011T>A g.218890289T>A - - WNT10A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma WNT10A - - - - - - NM_025216.2:c.682T>A - r.(?) p.(Phe228Ile) - - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. - VUS g.15677019G>A g.15635512G>A - - BTD_000024 - - - - Germline - - - - - Gerard C.P. Schaafsma BTD - - - - - - NM_000060.2:c.133G>A - r.(?) p.(Gly45Arg) - - - - - - - - - - - - - - - - - - - -
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.(=) - - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SLC26A2 - - - - - 3 NM_000112.3:c.2065A>T - r.(?) p.(Thr689Ser) - - - - - - - - - - - - - - - - - - - -
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.32006387A>T g.32038610A>T - - CYP21A2_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 - - - - - 1 NM_000500.7:c.188A>T - r.(?) p.(His63Leu) - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) +?/. - likely pathogenic (recessive) g.128850879C>T g.129211038C>T - - SMO_000019 - PubMed: Le 2020 - - Germline - - - 0 - Sophie Thomas SMO - - - - - - NM_005631.4:c.1726C>T - r.(?) p.(Arg576Trp) - - - - - - - - - - - - - - - - - - - -
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 Both (homozygous) ?/. - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A - - - - - - NM_000259.3:c.3736C>T - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. - VUS g.3304463C>T g.3254463C>T - - MEFV_000001 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV - - - - - 2 NM_000243.2:c.605G>A - r.(?) p.(Arg202Gln) - - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. - VUS g.28493793C>T g.28482472C>T INTRON 11, IVS11G>A, CHR16:28401294G>A - CLN3_000006 - - - - Germline - - - - - Gerard C.P. Schaafsma CLN3 - - - - - - NM_001042432.1:c.906+5G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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 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) - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - -
Legend