Screening #0000000009

Individual ID 00000009
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 18
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 38 17 2020-09-15 ACADMD
ARSB arylsulfatase B 5 p11-q13 1 43 30 2020-07-26 MPS-6
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 426 214 2020-09-15 Wilson
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 1592 605 2020-09-21 BESC-1, CBAVD, CF, PCTT
CLN3 ceroid-lipofuscinosis, neuronal 3 16 p12 1 597 122 2020-09-15 CLN, CLN-3
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 86 17 2020-09-15 MADD
GAN gigaxonin 16 q24.1 1 145 93 2020-09-15 GAN-1
GLB1 galactosidase, beta 1 3 p22.3 1 221 101 2020-08-30 gangliosidosis, gangliosidosis-I, gangliosidosis-II, gangliosidosis-III, MPS4B
HEXB hexosaminidase B (beta polypeptide) 5 q13.3 1 85 42 2020-09-15 Sandhoff
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 409 217 2020-09-15 CMT-2S, DSMA-1
MEFV Mediterranean fever 16 p13.3 1 587 306 2020-09-15 FMF, FMFD
NHLRC1 NHL repeat containing 1 6 p22.3 1 84 18 2020-09-15 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 341 201 2020-09-15 NPHS, NPHS-1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1 q21-q22 1 370 208 2020-09-15 CIPA, MTC
PMP22 peripheral myelin protein 22 17 p12 1 206 114 2020-09-18 CMT-1E, CMT1A, Dejerine-Sottas, HNPP, Roussy-Levy, Guillain-Barre syndrome, familial
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 298 81 2020-09-15 AATD, COPD
WNT10A wingless-type MMTV integration site family, member 10A 2 q35 1 116 27 2020-09-15 OODD, SSPS, STHAG-4



Variants found

18 entries on 1 page. Showing entries 1 - 18.
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.76198571C>T g.75732886C>T - - ACADM_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma ACADM - - - - - - NM_000016.4:c.250C>T - r.(?) p.(Leu84Phe) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.156848918C>T g.156879126C>T - - NTRK1_000163 - - - - Germline - - - - - Gerard C.P. Schaafsma NTRK1 - - - - - 15 NM_002529.3:c.1810C>T - r.(?) p.(His604Tyr) - - - - - - - - - - - - - - - - - - - -
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.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.73992881A>G g.74697056A>G - - HEXB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HEXB - - - - - 5 NM_000521.3:c.619A>G - r.(?) p.(Ile207Val) - - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. - VUS g.78135241C>T g.78839418C>T - - ARSB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ARSB - - - - - - NM_000046.3:c.1151G>A - r.(?) p.(Ser384Asn) - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - -
7 Unknown ?/. - VUS g.117180338C>T g.117540284C>T - - CFTR_001015 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR - - - - - 8 NM_000492.3:c.1054C>T - r.(?) p.(Arg352Trp) - - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma IGHMBP2 - - - - - 14 NM_002180.2:c.2636C>A - r.(?) p.(Thr879Lys) - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - -
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.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.710T>C - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - -
16 Both (homozygous) ?/. - 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.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) - - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. - VUS g.28498813_28498814del g.28487492_28487493del - - CLN3_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma CLN3 - - - - - - NM_001042432.1:c.423_424del - r.(?) p.(Val142Cysfs*17) - - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. - VUS g.15134364G>A g.15231047G>A - - PMP22_000046 - - - - Germline - - - - - Gerard C.P. Schaafsma PMP22 - - - - - - NM_000304.3:c.353C>T - r.(?) p.(Thr118Met) - - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. - VUS g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.1223G>A - r.(?) p.(Arg408Gln) - - - - - - - - - - - - - - - - - - - -
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