Screening #0000000001

Individual ID 00000001
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 34
Owner name LOVD-team, but 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 24 13 2018-11-13 Medium-chain acyl-coenzyme A dehydrogenase deficiency
ADA adenosine deaminase 20 q13.12 1 76 49 2019-07-05 Severe combined immunodeficiency due to ADA deficiency
ARSB arylsulfatase B 5 p11-q13 1 42 29 2019-06-28 MPS-6
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 392 198 2019-07-05 Wilson
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 627 422 2019-07-05 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
DMD dystrophin X p21.2 1 18581 5768 2019-12-12 BMD, BMD/DMD, CMD-3B, DMD
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 83 14 2019-07-05 MADD
GALT galactose-1-phosphate uridylyltransferase 9 p13 1 42 26 2019-01-21 galactosemia, ID
GLB1 galactosidase, beta 1 3 p22.3 1 186 77 2019-09-30 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 367 199 2019-07-05 CMT-2S, DSMA-1
LAMA2 laminin, alpha 2 6 q22-q23 1 2006 624 2019-12-10 ID, LGMDR-23, MDC, MDC-1A
NHLRC1 NHL repeat containing 1 6 p22.3 1 77 14 2019-07-05 epilepsy, myoclonic, of Lafora
NPHP3 nephronophthisis 3 (adolescent) 3 q22 1 9 6 2018-11-13 MKS-7, NPHP-3, RHPD-1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 317 193 2019-07-05 NPHS, NPHS-1
RAD51B RAD51 homolog B (S. cerevisiae) 14 q23-q24.2 2 15 15 2019-07-12 -
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 104 51 2019-07-05 ACG, ACG-1B, AO-2, DTD, EDM-4



Variants found

34 entries on 1 page. Showing entries 1 - 34.
Legend  

Chr     

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
1 Unknown ?/. g.76199277A>C - - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ACADM - - - - - - NM_000016.4:c.351A>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. 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.(=) - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. g.132401603G>C - - - NPHP3_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma NPHP3, NPHP3-ACAD11 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. g.78135241C>T g.78839418C>T - - ARSB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ARSB - - - - - - NM_000046.3:c.1151G>A - - r.(?) p.(Ser384Asn) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131705458G>C - c.-207G>C - SLC22A5_000045 - {dbSNP2631367} - - Unknown - - - 0 - - SLC22A5 - - - - - 1 NM_003060.3:c.-207C - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131705676C>G - - - SLC22A5_000025 - {dbSNP72552722} - - Unknown - - - 0 - - SLC22A5 - - - - - 1 NM_003060.3:c.12C>G - - r.(?) p.(Tyr4*) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131705715C>G - - - SLC22A5_000082 - {dbSNP11568520} - - Unknown - - - 0 - - SLC22A5 - - - - - 1 NM_003060.3:c.51C>G - - r.(?) p.(Phe17Leu) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131705720G>C - - - SLC22A5_000027 - {dbSNP72552723} - - Unknown - - - 0 - - SLC22A5 - - - - - 1 NM_003060.3:c.56G>C - - r.(?) p.(Arg19Pro) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131705747G>T - - - SLC22A5_000042 - {dbSNP72552724} - - Unknown - - - 0 - - SLC22A5 - - - - - 1 NM_003060.3:c.83G>T - - r.(?) p.(Ser28Ile) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131705759A>G - - - SLC22A5_000040 - {dbSNP72552725} - - Unknown - - - 0 - - SLC22A5 - - - - - 1 NM_003060.3:c.95A>G - - r.(?) p.(Asn32Ser) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131705912G>T - - - SLC22A5_000047 - {dbSNP72552726} - - Unknown - - - 0 - - SLC22A5 - - - - - 1 NM_003060.3:c.248G>T - - r.(?) p.(Arg83Leu) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131714072G>A - - - SLC22A5_000004 - {dbSNP72552727} - - Unknown - - - 0 - - SLC22A5 - - - - - 2 NM_003060.3:c.396G>A - - r.(?) p.(Trp132*) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131721092G>T - - - SLC22A5_000022 - {dbSNP72552728} - - Unknown - - - 0 - - SLC22A5 - - - - - 4 NM_003060.3:c.725G>T - - r.(?) p.(Gly242Val) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131722739T>C - - - SLC22A5_000018 - {dbSNP72552729} - - Unknown - - - 0 - - SLC22A5 - - - - - 5 NM_003060.3:c.847T>C - - r.(?) p.(Trp283Arg) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131722794C>A - - - SLC22A5_000023 - {dbSNP72552730} - - Unknown - - - 0 - - SLC22A5 - - - - - 5 NM_003060.3:c.902C>A - - r.(?) p.(Ala301Asp) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131724712T>C - - - SLC22A5_000020 - {dbSNP68018207} - - Unknown - - - 0 - - SLC22A5 - - - - - 6 NM_003060.3:c.1051T>C - - r.(?) p.(Trp351Arg) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131726490T>G - - - SLC22A5_000028 - {dbSNP72552731} - - Unknown - - - 0 - - SLC22A5 - - - - - 7 NM_003060.3:c.1161T>G - - r.(?) p.(Tyr387*) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131728176C>T - - - SLC22A5_000034 - {dbSNP72552732} - - Unknown - - - 0 - - SLC22A5 - - - - - 8 NM_003060.3:c.1319C>T - - r.(?) p.(Thr440Met) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131728193G>T - - - SLC22A5_000002 - {dbSNP72552733} - - Unknown - - - 0 - - SLC22A5 - - - - - 8 NM_003060.3:c.1336G>T - - r.(?) p.(Val446Phe) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131728202T>G - - - SLC22A5_000044 - {dbSNP11568514} - - Unknown - - - 0 - - SLC22A5 - - - - - 8 NM_003060.3:c.1345T>G - - r.(?) p.(Tyr449Asp) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131728211G>A - - - SLC22A5_000019 - {dbSNP72552734} - - Unknown - - - 0 - - SLC22A5 - - - - - 8 NM_003060.3:c.1354G>A - - r.(?) p.(Glu452Lys) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131728257C>G - - - SLC22A5_000015 - {dbSNP60376624} - - Unknown - - - 0 - - SLC22A5 - - - - - 8 NM_003060.3:c.1400C>G - - r.(?) p.(Ser467Cys) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131728290C>T - - - SLC22A5_000011 - {dbSNP72552735} - - Unknown - - - 0 - - SLC22A5 - - - - - 8 NM_003060.3:c.1433C>T - - r.(?) p.(Pro478Leu) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131728298G>T - - - SLC22A5_000058 - {dbSNP11568513} - - Unknown - - - 0 - - SLC22A5 - - - - - 9 NM_003060.3:c.1441G>T - - r.(?) p.(Val481Phe) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/? g.131729380G>A - - - SLC22A5_000053 - {dbSNP28383481} - - Unknown - - - 0 - - SLC22A5 - - - - - 9 NM_003060.3:c.1463G>A - - r.(?) p.(Arg488His) - - - - - - - - - - - - - - - - - - -
5 Both (homozygous) ?/. 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 ?/. 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 ?/. g.32006387A>T g.32038610A>T - - CYP21A2_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 - - - - - 1 NM_000500.7:c.188A>T - - r.(?) p.(His63Leu) - - - - - - - - - - - - - - - - - - -
9 Both (homozygous) ?/. g.34647528G>C - - - GALT_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma GALT - - - - - - NM_000155.3:c.292G>C - - r.(?) p.(Asp98His) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. 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 Both (homozygous) ?/. g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B - - - - - - NM_000053.3:c.3419T>C - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. 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 ?/. 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) - - - - - - - - - - - - - - - - - - -
20 Unknown ?/. g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA - - - - - - NM_000022.2:c.239A>G - - r.(?) p.(Lys80Arg) - - - - - - - - - - - - - - - - - - -
Legend