Screening #0000000001

Individual ID 00000001
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 21
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 9 3 2017-09-01 Medium-chain acyl-coenzyme A dehydrogenase deficiency
ADA adenosine deaminase 20 q13.12 1 23 9 2017-09-01 Severe combined immunodeficiency due to ADA deficiency
ARSB arylsulfatase B 5 p11-q13 1 11 3 2017-09-01 MPS-6
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 96 7 2017-09-01 Wilson
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 24 6 2017-09-01 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
DMD dystrophin X p21.2 1 5744 3205 2017-10-02 all-in-one, BMD, CMD-3B, DMD
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 70 3 2017-09-01 MADD;GA-2B
GALT galactose-1-phosphate uridylyltransferase 9 p13 1 5 5 2017-09-01 ID, galactosemia (galactose-1-phosphate uridylyltransferase deficiency)
GLB1 galactosidase, beta 1 3 p22.3 1 75 5 2017-09-01 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 65 21 2017-09-01 CMT-2S, DSMA-1
LAMA2 laminin, alpha 2 6 q22-q23 1 1209 487 2017-10-19 ID, MDC-1A
NHLRC1 NHL repeat containing 1 6 p22.3 1 61 1 2017-09-01 epilepsy, myoclonic, of Lafora
NPHP3 nephronophthisis 3 (adolescent) 3 q22 1 3 3 2017-09-01 MKS-7, NPHP-3, RHPD-1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 234 146 2017-09-01 NPHS, NPHS-1
RAD51B RAD51 homolog B (S. cerevisiae) 14 q23-q24.2 2 4 4 2017-09-19 -
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 67 33 2017-09-01 ACG-1B, AO-2, DTD, EDM-4



Variants found

21 entries on 1 page. Showing entries 1 - 21.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

Domain     

IDbase Accession Number     

VariO Annotation DNA level     

VariO Annotation protein level     

VariO Annotation RNA level     

Exon     

DNA change (cDNA)     

Haplotype     

Class.     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type     

Conservation     

CpG     

DB CrossRef     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

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 - - - GLB1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma GLB1, TMPPE ./. - - - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - - - r.(?), p.(Pro10Leu), - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.132401603G>C - - - NPHP3_000003 - - - Germline - - - 0 - Gerard C.P. Schaafsma NPHP3 ?/. - - - - - - 26 NM_153240.3:c.3756C>G - - - r.(?) p.(Ser1252Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.78135241C>T - - - ARSB_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ARSB ?/. - - - - - - - NM_000046.3:c.1151G>A - - - r.(?) p.(Ser384Asn) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Both (homozygous) g.149361221A>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 - - - NHLRC1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.32006387A>T - - - CYP21A2_000002 - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 ?/. - - - - - - 1 NM_000500.7:c.188A>T - - - r.(?) p.(His63Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.129687396G>A - - - LAMA2_000123 - - - Unknown - - - 0 - Johan den Dunnen LAMA2 ?/. - - - - - - 33 NM_000426.3:c.4750G>A - - - r.(?) p.(Gly1584Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Both (homozygous) g.34647528G>C - - - GALT_000001 - - - Germline - - - - - Gerard C.P. Schaafsma GALT ?/. - - - - - - - NM_000155.2:c.292G>C - - - r.(?) p.(Asp98His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.68705674C>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 - - - ATP7B_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.349G>A - - - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.51850290G>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 - - - ADA_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ADA ?/. - - - - - - - NM_000022.2:c.239A>G - - - r.(?) p.(Lys80Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Parent #1 g.32758479_32961154del - - - DMD_001362 - PubMed: Gualandi 2006 - Germline - - - 0 - Johan den Dunnen DMD +/. - - - - - - 2i_7i NM_004006.2:c.93+77102_650-41069del - - - r.(94_649del) p.(fs*?) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.79269636A>G - -621A>G - TBX22_000035 - - rs6621541 Unknown - - - 0 - Johan den Dunnen TBX22 ?/. - - - - - - 1 NM_001109878.1:c.-753A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.79269682G>A - -575G>A - TBX22_000036 - - rs7055763 Unknown - - - 0 - Johan den Dunnen TBX22 ?/. - - - - - - 1 NM_001109878.1:c.-707G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.79269686_79269687del - -572delTA - TBX22_000037 - - rs58147590 Unknown - - - 0 - Johan den Dunnen TBX22 ?/. - - - - - - 1 NM_001109878.1:c.-703_-702del - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.79270043G>A - -214G>A - TBX22_000038 - - rs6621542 Unknown - - - 0 - Johan den Dunnen TBX22 ?/. - - - - - - 1 NM_001109878.1:c.-346G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.79270113T>A - - - TBX22_000033 - - rs41307258 Unknown - - - 0 - Johan den Dunnen TBX22 ?/. - - - - - - 1 NM_001109878.1:c.-276T>A - - - r.(?) p.? - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.79270131C>G - -126C>G - TBX22_000039 - - rs6621543 Unknown - - - 0 - Johan den Dunnen TBX22 ?/. - - - - - - 1 NM_001109878.1:c.-258C>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend