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 60 54 2018-01-13 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 2 2 2017-05-26 ID, MRT-3
CDK5RAP2 CDK5 regulatory subunit associated protein 2 9 q33.3 1 9 7 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 4533 771 2018-01-13 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 1 146 110 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 13 7 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 18 18 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 13 13 2017-12-04 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 10 9 2018-01-13 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     

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 Parent #1 g.197070442G>T g.197101312G>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 g.144404335A>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 g.199272885T>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 g.56931248C>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 g.177212303C>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 g.42048623T>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 g.132894913G>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 g.45811384G>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 g.66514624G>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 g.66529892C>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 g.25206907T>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 g.31247119C>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 g.31247855T>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 g.31276852G>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 g.31317609G>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 g.31317609G>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 g.31329697G>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 g.100309902A>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 g.8847961A>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 g.7587859G>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 g.17793441C>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 g.55464257C>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 g.13918456A>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 g.10637926T>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 g.10639627G>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 g.10652665T>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 g.32808730A>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 g.50936367A>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 g.50695090G>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 g.47467712T>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 g.53937191T>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 g.53992862C>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 g.70453961T>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 g.70504244G>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 g.119835112A>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 g.154026729T>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