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 24 10 2018-01-13 Severe combined immunodeficiency due to ADA deficiency
ARSB arylsulfatase B 5 p11-q13 1 14 6 2017-12-01 MPS-6
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 113 19 2017-10-24 Wilson
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 24 6 2017-10-24 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
DMD dystrophin X p21.2 1 15745 4880 2018-01-14 all-in-one, BMD, BMD/DMD, CMD-3B, DMD
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 70 3 2017-10-24 MADD;GA-2B
GALT galactose-1-phosphate uridylyltransferase 9 p13 1 7 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 69 23 2017-09-01 CMT-2S, DSMA-1
LAMA2 laminin, alpha 2 6 q22-q23 1 1208 487 2018-01-13 all-in-one, ID, MDC-1A
NHLRC1 NHL repeat containing 1 6 p22.3 1 61 1 2017-10-24 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     

ClinVar ID     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

Class.     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type/DNA     

Conservation     

CpG     

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 g.33097057G>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 g.78839418C>T - - ARSB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ARSB ?/. - - - - - - NM_000046.3:c.1151G>A - - - r.(?) p.(Ser384Asn) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.129687396G>A g.129366251G>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 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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Parent #1 g.32758479_32961154del g.32740362_32943037del - - 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 g.80014137A>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 g.80014183G>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 g.80014187_80014188del -572delTA - TBX22_000037 - - - rs58147590 Unknown - - - 0 - Johan den Dunnen TBX22 ?/. - - - - - 1 NM_001109878.1:c.-703_-702del - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.79270043G>A g.80014544G>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 g.80014614T>A - - TBX22_000033 - - - rs41307258 Unknown - - - 0 - Johan den Dunnen TBX22 ?/. - - - - - 1 NM_001109878.1:c.-276T>A - - - r.(?) p.? - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.79270131C>G g.80014632C>G -126C>G - TBX22_000039 - - - rs6621543 Unknown - - - 0 - Johan den Dunnen TBX22 ?/. - - - - - 1 NM_001109878.1:c.-258C>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend