Screening #0000000029

Individual ID 00000029
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 45
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ALG9 asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) 11 q23 1 1 1 2017-05-26 CDG-1L, ID
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1 q31 1 7 7 2017-05-26 ID, MCPH-5
B3GLCT beta 3-glucosyltransferase 13 q12.3 1 113 42 2017-05-27 Peters-plus syndrome
BBS1 Bardet-Biedl syndrome 1 11 q13 1 6 5 2017-05-26 BBS-1, ID
CBS cystathionine-beta-synthase 21 q22.3 1 56 8 2017-05-26 CBSD, ID
CC2D1A coiled-coil and C2 domain containing 1A 19 p13.12 1 1 1 2017-05-26 ID, MRT-3
CDK5RAP2 CDK5 regulatory subunit associated protein 2 9 q33.3 1 6 5 2017-05-27 ID, MCPH-3
DLG3 discs, large homolog 3 (Drosophila) X q13.1 1 77 62 2017-07-23 ID, MRX-90
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta 20 q11.2 1 47 33 2017-05-26 ICF-1, ID
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 20 q13.1 1 1 1 2017-05-26 CDG-1E, ID
DPP3 dipeptidyl-peptidase 3 11 q12-q13.1 1 3 3 2017-05-26 -
GLI3 GLI family zinc finger 3 7 p13 1 52 48 2017-10-07 GCPS, ID, PAP-4, PAP-A1;PAP-B, PHS, Hamartoma of hypothalamus
JAG1 jagged 1 20 p12.1-p11.23 1 5 5 2017-05-26 ID, TOF, Alagille syndrome, deafness, congenital heart defects, and posterior embryotoxon
KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog 12 p12.1 1 16 15 2017-08-04 AML, cancer, bladder, cancer, lung, CFC-1, CFC-2, HDGC, ID, NS-3, RALD;ALPS-4, cancer, breast, familial, cancer, pancreatic, Leukemia, acute myelogenous, SFM syndrome, somatic mosaic
MECP2 methyl CpG binding protein 2 (Rett syndrome) X q28 2 4532 770 2017-05-26 AS, AUTSX-3, ID, MRX-13, MRXSL, RTT, encephalopathy, neonatal, severe
MPDU1 mannose-P-dolichol utilization defect 1 17 p13.1-p12 1 1 1 2017-05-26 CDG-1F, ID
NLGN4X neuroligin 4, X-linked X p22.33 1 20 10 2017-05-26 ID, MRXS, Asperger syndrome X-linked 2
NSD1 nuclear receptor binding SET domain protein 1 5 q35 1 144 108 2017-05-27 AML, BWS, ID, SOTOS, SOTOS-1
PHF8 PHD finger protein 8 X p11.22 1 7 6 2017-05-26 ID, mental retardation syndrome, X-linked, Siderius type
PMM2 phosphomannomutase 2 16 p13 1 12 6 2017-05-26 CDG-1A, ID
RAI1 retinoic acid induced 1 17 p11.2 1 15 13 2017-05-26 ID, SMS
REST RE1-silencing transcription factor 4 q12 1 13 10 2017-05-26 -
SATB2 SATB homeobox 2 2 q33.1 1 18 18 2017-05-27 CPI;CPO, GLASS, ID
SCN8A sodium channel, voltage gated, type VIII, alpha subunit 12 q13.1 1 14 14 2017-07-19 EIEE-13, Cognitive impairment with or without cerebellar ataxia
SHANK3 SH3 and multiple ankyrin repeat domains 3 22 q13.3 1 16 16 2017-05-26 ID, PHMDS, SCZD-15
SLC35C1 solute carrier family 35, member C1 11 p11.2 1 1 1 2017-05-26 CDG-2C, ID
TCF4 transcription factor 4 18 q21.1 1 144 99 2017-09-11 FECD-3, ID, PTHS
TSC1 tuberous sclerosis 1 9 q34 1 6 6 2017-05-27 ID, LAM, TSC, TSC-1, Focal cortical dysplasia of Taylor
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast) X q25-q26 1 10 9 2017-05-26 ID, MRX-14
ZEB2 zinc finger E-box binding homeobox 2 2 q22.3 1 6 6 2017-05-26 ID, MOWS
ZNF41 zinc finger protein 41 X p11.23 1 9 7 2017-05-26 ID, MRX-89



Variants found

45 entries on 1 page. Showing entries 1 - 45.
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 Parent #1 g.197070442G>T - - - ASPM_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma ASPM, PRKAR1A +?/+? - - - - - - 11 NM_018136.4:c.7939C>A, NM_002734.4:c.980T>C - - - r.(?), r.(980u>c) p.(Leu2647Ile), p.(Ile327Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) g.145161902A>G - - - ZEB2_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma ZEB2 ?/. - - - - - - - NM_014795.3:c.593-205T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) g.200137608T>C - - - SATB2_000002 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma SATB2 ?/. - - - - - - - NM_001172509.1:c.1741-213A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #1 g.57797414C>T - - - REST_000001 - PubMed: Almomani 2011 rs3796529 Germline - - - 0 - Gerard C.P. Schaafsma REST ?/. - - - - - - 4 NM_005612.4:c.2390C>T - - - r.(?) p.(Pro797Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Both (homozygous) g.176639304C>G - - - NSD1_000112 - PubMed: Almomani 2011 - Germline - - - 0 - Gerard C.P. Schaafsma NSD1 ?/. - - - - - - 5i NM_022455.4:c.3796+108C>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) g.42088222T>C - - - GLI3_000001 - PubMed: Almomani 2011 rs846266 Germline - - - 0 - Gerard C.P. Schaafsma GLI3 ?/. - - - - - - 5 NM_000168.5:c.547A>G - - - r.(?) p.(Thr183Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Parent #1 g.123171755T>C - - - CDK5RAP2_000004 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma CDK5RAP2 ?/. - - - - - - - NM_018249.4:c.4415-161A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Parent #1 g.123171755T>C - - - CDK5RAP2_000004 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma CDK5RAP2 ?/. - - - - - - - NM_018249.4:c.4415-161A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Both (homozygous) g.135770300G>A - - - TSC1_000713 - PubMed: Almomani 2011 dbSNP - Germline - - - 0 - Gerard C.P. Schaafsma TSC1 ?/. - - - - - - 23 NM_000368.4:c.*1322C>T - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Both (homozygous) g.45832935G>A - - - SLC35C1_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma SLC35C1 ?/. - - - - - - - NM_018389.4:c.*49G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Parent #1 g.66254085G>T - - - DPP3_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma DPP3 ?/. - - - - - - - NM_130443.2:c.435G>T - - - r.(?) p.(Gln145His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Both (homozygous) g.66272142A>G - - - DPP3_000002 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma DPP3 ?/. - - - - - - - NM_130443.2:c.1938A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Parent #1 g.66272237G>A - - - DPP3_000003 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma DPP3 ?/. - - - - - - - NM_130443.2:c.2033G>A - - - r.(?) p.(Arg678His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Parent #1 g.66282095G>A - - - BBS1_000061 - PubMed: Almomani 2011 dbSNP - Germline - - - 0 - Gerard C.P. Schaafsma BBS1, HTT -/- - - - - - - 4, 2i NM_024649.4:c.378G>A, NM_002111.6:c.348-2680C= - - - r.(=), r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Parent #1 g.66297363C>T - - - BBS1_000062 - PubMed: Almomani 2011 dbSNP - Germline - - - 0 - Gerard C.P. Schaafsma BBS1, HTT -/- - - - - - - 14, 2i NM_024649.4:c.1413C>T, NM_002111.6:c.348-2680C= - - - r.(=), r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Parent #1 g.111739379C>T - - - ALG9_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma ALG9, HTT -/- - - - - - - 2i NM_024740.2:c.352G>A, NM_002111.6:c.348-2680C= - - - r.(?) p.(Val118Ile), p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Parent #1 g.25359841T>C - - - KRAS_000011 - PubMed: Almomani 2011 rs13096 Germline - - - 0 - Gerard C.P. Schaafsma KRAS -?/. - - - - - - 5 NM_004985.3:c.*2888A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Parent #1 g.52163789G>A - - - SCN8A_000004 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma SCN8A ?/. - - - - - - - NM_014191.2:c.3490+20G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Parent #1 g.52184271T>C - - - SCN8A_000005 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma SCN8A ?/. - - - - - - - NM_014191.2:c.4509T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.31821256C>G - - - B3GLCT_000010 - PubMed: Almomani 2011 - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - - 5i NM_194318.3:c.347+20C>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.31821992T>C - - - B3GLCT_000039 - PubMed: Almomani 2011 - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - - 6 NM_194318.3:c.348T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.31850989G>A - - - B3GLCT_000018 - PubMed: Almomani 2011 - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - - 10i NM_194318.3:c.850+81G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.31891746G>A - - - B3GLCT_000048 - PubMed: Almomani 2011 rs041073 Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - - 13 NM_194318.3:c.1108G>A - - - r.(?) p.(Glu370Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.31891746G>A - - - B3GLCT_000048 - PubMed: Almomani 2011 - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - - 13 NM_194318.3:c.1108G>A - - - r.(?) p.(Glu370Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.31903834G>T - - - B3GLCT_000049 - PubMed: Almomani 2011 - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - - 15 NM_194318.3:c.*29G>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.100962156A>G - - - PCCA_000007 - - rs35719359 Germline - - - 0 - Johan den Dunnen PCCA ?/. - - - - - - 16 NM_000282.3:c.1423A>G - - - r.(?) p.(Ile475Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Both (homozygous) g.8941818A>C - - - PMM2_000050 - PubMed: Almomani 2011 rs2075827 Germline - - - 0 - Gerard C.P. Schaafsma PMM2 -?/. - - - - - - 8 NM_000303.2:c.*136A>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Both (homozygous) g.7491177G>T - - - MPDU1_000003 - PubMed: Almomani 2011 rs4227 Germline - - - 0 - Gerard C.P. Schaafsma MPDU1 -?/. - - - - - - 7 NM_004870.3:c.*308G>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Parent #1 g.17696755C>A - - - RAI1_000001 - PubMed: Almomani 2011 rs11649804 Germline - - - 0 - Gerard C.P. Schaafsma RAI1 ?/. - - - - - - 3 NM_030665.3:c.493C>A - - - r.(?) p.(Pro165Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
18 Parent #1 g.53131488C>A - - - TCF4_000081 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma TCF4 ?/. - - - - - - - NM_001083962.1:c.146-120G>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Parent #1 g.14029269A>C - - - CC2D1A_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma CC2D1A ?/. - - - - - - - NM_017721.4:c.874-48A>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Both (homozygous) g.10618574T>C - - - JAG1_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma JAG1 ?/. - - - - - - - NM_000214.2:c.*1572A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Parent #1 g.10620275G>A - - - JAG1_000002 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma JAG1 ?/. - - - - - - - NM_000214.2:c.3528C>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Parent #1 g.10633313T>C - - - JAG1_000003 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma JAG1 ?/. - - - - - - - NM_000214.2:c.756-67A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Both (homozygous) g.31396536A>G - - - DNMT3B_000010 - PubMed: Almomani 2011 rs2424932 Germline - - - 0 - Gerard C.P. Schaafsma DNMT3B -?/. - - - - - - 23 NM_006892.3:c.*827A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Both (homozygous) g.49552904A>G - - - DPM1_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma DPM1 ?/. - - - - - - - NM_003859.1:c.564-105T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
22 Parent #1 g.51133518G>A - - - SHANK3_000001 - PubMed: Almomani 2011 rs13055562 Germline - - - 0 - Gerard C.P. Schaafsma SHANK3 ?/. - - - - - - 10i NM_033517.1:c.1302+44G>A - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.5810574C>T - - - NLGN4X_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma NLGN4X ?/. - - - - - - - NM_020742.2:c.*284G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.47327111T>C - - - ZNF41_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma ZNF41 ?/. - - - - - - - NM_007130.2:c.-231A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.53963624T>C - - - PHF8_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma PHF8 ?/. - - - - - - - NM_015107.2:c.*1967A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.54019295C>T - - - PHF8_000002 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma PHF8 ?/. - - - - - - - NM_015107.2:c.1627-23G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.69673811T>C - - - DLG3_000004 - PubMed: Almomani 2011 rs2274309 Germline - - - 0 - Gerard C.P. Schaafsma DLG3 ?/. - - - - - - 8i NM_021120.3:c.1302+168T>C - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.69724094G>A - - - DLG3_000005 - PubMed: Almomani 2011 rs1044422 Germline - - - 0 - Gerard C.P. Schaafsma DLG3 ?/. - - - - - - 19 NM_021120.3:c.*1975G>A - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.118969075A>C - - - UPF3B_000006 - PubMed: Almomani 2011 rs2239963 Germline - - - 0 - Gerard C.P. Schaafsma UPF3B ?/. - - - - - - 10i NM_080632.2:c.1303-85T>G - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.153292180T>C - - - MECP2_000014 - PubMed: Almomani 2011 dbSNP - Germline - - - 0 - Gerard C.P. Schaafsma MECP2 -?/. - - - - - - 4 NM_001110792.1:c.*3638A>G, NM_004992.3:c.*3638A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend