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 46 29 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 12 11 2017-05-27 BBS-12, ID
CDK5RAP2 CDK5 regulatory subunit associated protein 2 9 q33.3 1 9 7 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 1 895 136 2018-01-13 ID, SLOS
EP300 E1A binding protein p300 22 q13.2 1 41 41 2017-12-11 CRC, ID, RSTS-1, RSTS-2
IL1RAPL1 interleukin 1 receptor accessory protein-like 1 X p22.1-p21.3 1 46 36 2017-11-30 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 5 4 2018-01-13 ID, MCPH-1
MED12 mediator complex subunit 12 X q13 1 77 51 2017-08-04 ID, Lujan-Fryns, OHDOX, OKS
NSD1 nuclear receptor binding SET domain protein 1 5 q35 1 146 110 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 17 14 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 6 6 2017-05-27 ID, Martsolf, WARBM-2
RAF1 v-raf-1 murine leukemia viral oncogene homolog 1 3 p25 1 3 3 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 18 18 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 13 13 2017-12-04 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     

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 Both (homozygous) g.220322898_220322899insTGT g.220149556_220149557insTGT 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 g.199380522C>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 g.3151243T>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 g.12585017G>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 g.122743272G>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 g.139021522A>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 g.139051170C>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 g.139121305G>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 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.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.176721272G>C g.177294271G>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 g.33135240G>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 g.131506724G>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 g.132895946delA - - 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 g.71444219C>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 g.25209618A>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 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 Unknown g.31848823A>G g.31274686A>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 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.31851059A>G g.31276922A>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 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.31903841A>G g.31329704A>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 g.31331504G>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 g.44949948A>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 g.41118151G>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 g.41141230G>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 g.41179003_41179005del - - 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 g.49903787T>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 g.28789631A>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 g.28789652T>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 g.53198161A>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 g.71121319A>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 g.71132567T>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