Screening #0000000019

Individual ID 00000019
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 44
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
AFF2 AF4/FMR2 family, member 2 X q28 1 43 26 2017-05-27 ID, mental retardation, X-linked, FRAXE type
ALG12 asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) 22 q13.33 1 2 2 2017-05-27 CDG-1G, ID
ALG6 asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) 1 p31.3 1 6 2 2017-06-30 CDG-1C, ID
B3GLCT beta 3-glucosyltransferase 13 q12.3 1 113 42 2017-05-27 Peters-plus syndrome
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 9 p13 1 1 1 2017-05-27 CDG-2D, ID
BBS12 Bardet-Biedl syndrome 12 4 q27 1 6 6 2017-05-27 BBS-12, ID
CDK5RAP2 CDK5 regulatory subunit associated protein 2 9 q33.3 1 6 5 2017-05-27 ID, MCPH-3
CENPJ centromere protein J 13 q12.12 1 3 3 2017-05-27 ID, MCPH-6, SCKL, SCKL-4
CRBN cereblon 3 p26.3 1 1 1 2017-05-27 ID, MRT-2
DHCR7 7-dehydrocholesterol reductase 11 q13.4 1 891 134 2017-05-27 ID, SLOS
EP300 E1A binding protein p300 22 q13.2 1 34 34 2017-05-27 CRC, ID, RSTS-1, RSTS-2
IL1RAPL1 interleukin 1 receptor accessory protein-like 1 X p22.1-p21.3 1 44 33 2017-09-01 ID, IDX (MRX), MRX-21;MRX-34
KDM5C lysine (K)-specific demethylase 5C X p11.22-p11.21 1 30 18 2017-05-27 ID, mental retardation, X-linked, syndromic, Claes-Jensen type
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
MCPH1 microcephalin 1 8 p23.1 1 2 2 2017-05-27 ID, MCPH-1
MED12 mediator complex subunit 12 X q13 1 76 50 2017-08-04 ID, Lujan-Fryns, OHDOX, OKS
NSD1 nuclear receptor binding SET domain protein 1 5 q35 1 144 108 2017-05-27 AML, BWS, ID, SOTOS, SOTOS-1
NUFIP1 nuclear fragile X mental retardation protein interacting protein 1 13 q14 1 1 1 2017-05-27 -
POMT1 protein-O-mannosyltransferase 1 9 q34.1 1 14 12 2017-05-27 ID, LGMD-2K;MDDGC-1, MDDGA-1;MEB;WWS, MDDGB-1
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic) 1 p36.13-p35.3 1 4 4 2017-05-27 ID, Martsolf, WARBM-2
RAF1 v-raf-1 murine leukemia viral oncogene homolog 1 3 p25 1 2 2 2017-05-27 CMD-1NN, ID, LPRD-2, NS-5
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
SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) 5 q31 1 6 6 2017-05-27 ID, MSS
TSC1 tuberous sclerosis 1 9 q34 1 6 6 2017-05-27 ID, LAM, TSC, TSC-1, Focal cortical dysplasia of Taylor



Variants found

44 entries on 1 page. Showing entries 1 - 44.
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 Both (homozygous) g.220322898_220322899insTGT - c.*866+827insAAC - RAB3GAP2_000001 - PubMed: Almomani 2011 - Germline - - - - - Gerard C.P. Schaafsma RAB3GAP2 ?/. - - - - - - - NM_012414.3:c.*1694_*1695insACA - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.200245245C>G - - - SATB2_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma SATB2 ?/. - - - - - - - NM_001172509.1:c.474-35G>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) g.3192927T>G - - - CRBN_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma CRBN ?/. - - - - - - - NM_016302.3:c.1149-198A>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Parent #1 g.12626516G>A - - - RAF1_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma RAF1 ?/. - - - - - - - NM_002880.3:c.1669-36C>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #1 g.123664427G>C - - - BBS12_000040 - PubMed: Almomani 2011 rs13135766 Germline - - - 0 - Gerard C.P. Schaafsma BBS12 -?/. - - - - - - 3 NM_001178007.1:c.1380G>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Parent #1 g.138357211A>G - - - SIL1_000002 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma SIL1 ?/. - - - - - - - NM_001037633.1:c.646-230T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Parent #1 g.138386859C>A - - - SIL1_000003 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma SIL1 ?/. - - - - - - - NM_001037633.1:c.245-124G>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Parent #1 g.138456994G>A - - - SIL1_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma SIL1 ?/. - - - - - - - NM_001037633.1:c.106-132C>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.176721272G>C - - - NSD1_000053 - PubMed: Almomani 2011 - Germline - - - 0 - Gerard C.P. Schaafsma NSD1 ?/. - - - - - - 23 NM_022455.4:c.6903G>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
8 Parent #1 g.6303025G>A - - - MCPH1_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma MCPH1 ?/. - - - - - - - NM_024596.2:c.1782G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.33135238G>A - - - B4GALT1_000001 - PubMed: Almomani 2011 - Germline - - - - - Gerard C.P. Schaafsma B4GALT1 ?/. - - - - - - - NM_001497.3:c.597C>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Both (homozygous) g.123169718C>G - - - CDK5RAP2_000003 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma CDK5RAP2 ?/. - - - - - - - NM_018249.4:c.4727-192G>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Both (homozygous) g.123308276T>C - - - CDK5RAP2_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma CDK5RAP2 ?/. - - - - - - - NM_018249.4:c.307-208A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Both (homozygous) g.123330813T>C - - - CDK5RAP2_000002 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma CDK5RAP2 ?/. - - - - - - - NM_018249.4:c.128-147A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Both (homozygous) g.134382111G>A - - - POMT1_000140 - PubMed: Almomani 2011 rs10448341 Germline - - - 0 - Gerard C.P. Schaafsma POMT1 -?/. - - - - - - 4i NM_007171.3:c.280+271G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.135771333delA - - - TSC1_000639 - PubMed: Almomani 2011 - Germline - - - 0 - Gerard C.P. Schaafsma TSC1 ?/. - - - - - - 23 NM_000368.4:c.*289delT - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.71155265C>T - - - DHCR7_000185 - PubMed: Almomani 2011 - Germline - - - 0 - Gerard C.P. Schaafsma DHCR7 ?/. - - - - - - 3i NM_001360.2:c.99-4G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Parent #1 g.25362552A>C - - - KRAS_000010 - PubMed: Almomani 2011 rs712 Germline - - - 0 - Gerard C.P. Schaafsma KRAS -?/. - - - - - - 5 NM_004985.3:c.*177T>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.52162823C>T - - - SCN8A_000006 - PubMed: Almomani 2011 - Germline - - - - - Gerard C.P. Schaafsma SCN8A ?/. - - - - - - - NM_014191.2:c.3076C>T - - - r.(?) p.(Arg1026Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Both (homozygous) g.52163248A>G - - - SCN8A_000002 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma SCN8A ?/. - - - - - - - NM_014191.2:c.3372+129A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Both (homozygous) g.52163322G>C - - - SCN8A_000009 - PubMed: Almomani 2011 rs303809 Germline - - - 0 - Gerard C.P. Schaafsma SCN8A -?/. - - - - - - 17i NM_014191.2:c.3372+203G>C - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Both (homozygous) g.52183485C>T - - - SCN8A_000003 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma SCN8A ?/. - - - - - - - NM_014191.2:c.4419+283C>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.25458233_25458235del - - - CENPJ_000001 - PubMed: Almomani 2011 - Germline - - - - - Gerard C.P. Schaafsma CENPJ ?/. - - - - - - - NM_018451.3:c.3704-14_3704-12del - - - 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 Unknown g.31848823A>G - - - B3GLCT_000016 - PubMed: Almomani 2011 - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - - 9i NM_194318.3:c.780+58A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown 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.31851059A>G - - - B3GLCT_000044 - PubMed: Almomani 2011 rs1409373 Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - - 10i NM_194318.3:c.850+151A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown 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.31903841A>G - - - B3GLCT_000021 - PubMed: Almomani 2011 - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - - 15 NM_194318.3:c.*36A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Parent #1 g.31905641G>A - - - B3GLCT_000050 - PubMed: Almomani 2011 rs912603 Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - - 15 NM_194318.3:c.*1836G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.45524083A>C - - - NUFIP1_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma NUFIP1 ?/. - - - - - - - NM_012345.2:c.1022-110T>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
22 Both (homozygous) g.41514155G>A - - - EP300_000022 - PubMed: Almomani 2011 dbSNP - Germline - - - 0 - Johan den Dunnen EP300 -?/. - - - - - - 2i NM_001429.3:c.729+330G>A - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
22 Both (homozygous) g.41537234G>T - - - EP300_000021 - PubMed: Almomani 2011 rs6002267 Germline - - - 0 - Johan den Dunnen EP300 -?/. - - - - - - 10i NM_001429.3:c.2053+8G>T - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
22 Unknown g.41575007_41575009del - - - EP300_000023 - PubMed: Almomani 2011 - Germline - - - 0 - Johan den Dunnen EP300 -?/. - - - - - - 31 NM_001429.3:c.*47_*49del - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
22 Parent #1 g.50297435T>C - - - ALG12_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma ALG12 ?/. - - - - - - - NM_024105.3:c.*51A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.28807748A>G - - - IL1RAPL1_000012 - PubMed: Almomani 2011 rs6526807 Germline ? - - 0 - Gerard C.P. Schaafsma IL1RAPL1 -?/. - - - - - - 2i NM_014271.3:c.82+206A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.28807769T>C - - - IL1RAPL1_000011 - PubMed: Almomani 2011 rs12690144 Germline ? - - 0 - Gerard C.P. Schaafsma IL1RAPL1 -?/. - - - - - - 2i NM_014271.3:c.82+227T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.53227343A>G - - - KDM5C_000005 - PubMed: Almomani 2011 rs2182285 Germline - - - 0 - Gerard C.P. Schaafsma KDM5C ?/. - - - - - - 17i NM_004187.3:c.2517-285T>C - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.70341169A>C - - - MED12_000024 - PubMed: Almomani 2011 - Germline - - - 0 - Gerard C.P. Schaafsma MED12 ?/. - - - - - - 5i NM_005120.2:c.736-8A>C - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.70352417T>C - - - MED12_000021 - PubMed: Almomani 2011 rs10521349 Germline - - - 0 - Gerard C.P. Schaafsma MED12 ?/. - - - - - - 31i NM_005120.2:c.4415+29T>C - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.148049264T>G - - - AFF2_000001 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma AFF2 ?/. - - - - - - - NM_002025.2:c.3267+42T>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.148080095A>G - - - AFF2_000002 - PubMed: Almomani 2011 dbSNP - Germline - - - - - Gerard C.P. Schaafsma AFF2 ?/. - - - - - - - NM_002025.2:c.*7233A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend