Individual #00327547

ID_report family
Reference PubMed: Beck 2014
Remarks 2-generation family, 5 affected (2F, 3M)
Gender F;M
Consanguinity yes
Country Iraq
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 5
Diseases retinal disease
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

retinal disease (retinal disease)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000245811 see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease - - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000328762 DNA SEQ-NG - WES - 58 Johan den Dunnen



Variants

58 entries on 1 page. Showing entries 1 - 58.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
1 Parent #1 ?/. - VUS g.45475886C>T g.45010214C>T - - HECTD3_000009 - PubMed: Beck 2014 - rs41269097 Germline - - - 0 - LOVD HECTD3 - - - - - - NM_024602.5:c.610G>A - r.(?) p.(Val204Ile) - - - - - - - - - - - - - - - - - - -
1 Parent #2 ?/. - VUS g.45476368G>C g.45010696G>C - - HECTD3_000010 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD HECTD3 - - - - - - NM_024602.5:c.380C>G - r.(?) p.(Ala127Gly) - - - - - - - - - - - - - - - - - - -
1 Parent #1 ?/. - VUS g.46874246C>T g.46408574C>T - - FAAH_000001 - PubMed: Beck 2014 - rs77101686 Germline - - - 0 - LOVD FAAH - - - - - - NM_001441.2:c.1067C>T - r.(?) p.(Ala356Val) - - - - - - - - - - - - - - - - - - -
1 Parent #2 ?/. - VUS g.46877885C>G g.46412213C>G - - FAAH_000002 - PubMed: Beck 2014 - rs75429705 Germline - - - 0 - LOVD FAAH - - - - - - NM_001441.2:c.1427C>G - r.(?) p.(Ala476Gly) - - - - - - - - - - - - - - - - - - -
1 Parent #1 ?/. - VUS g.183079729C>T g.183110594C>T - - LAMC1_000028 - PubMed: Beck 2014 - rs142614579 Germline - - - 0 - LOVD LAMC1 - - - - - - NM_002293.3:c.961C>T - r.(?) p.(Pro321Ser) - - - - - - - - - - - - - - - - - - -
1 Parent #2 ?/. - VUS g.183091040G>A g.183121905G>A - - LAMC1_000029 - PubMed: Beck 2014 - rs147401305 Germline - - - 0 - LOVD LAMC1 - - - - - - NM_002293.3:c.2173G>A - r.(?) p.(Ala725Thr) - - - - - - - - - - - - - - - - - - -
1 Parent #1 ?/. - VUS g.225268346G>T g.225080644G>T NM_001373.1:c.3032G>T (Arg1011Leu) - DNAH14_000020 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD DNAH14 - - - - - - NM_001145154.1:c.*56775G>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Parent #2 ?/. - VUS g.225586937G>A g.225399235G>A NM_001373.1:c.13514G>A (Arg4505Gln) - DNAH14_000019 - PubMed: Beck 2014 - rs45606432 Germline - - - 0 - LOVD DNAH14 - - - - - - NM_001145154.1:c.*375366G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 ?/. - VUS g.21225500A>G g.21002628A>G - - APOB_000222 - PubMed: Beck 2014 - rs61743502 Germline - - - 0 - LOVD APOB - - - - - - NM_000384.2:c.12794T>C - r.(?) p.(Val4265Ala) - - - - - - - - - - - - - - - - - - -
2 Parent #2 ?/. - VUS g.21232019G>A g.21009147G>A - - APOB_000965 - PubMed: Beck 2014 - rs150843941 Germline - - - 0 - LOVD APOB - - - - - - NM_000384.2:c.7721C>T - r.(?) p.(Ala2574Val) - - - - - - - - - - - - - - - - - - -
2 Parent #1 ?/. - VUS g.26698882G>A g.26476014G>A - - OTOF_000322 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD OTOF - - - - - - NM_194248.2:c.2891C>T - r.(?) p.(Ala964Val) - - - - - - - - - - - - - - - - - - -
2 Parent #2 ?/. - VUS g.26700288_26700289delinsAA g.26477420_26477421delinsAA - - OTOF_000324 - PubMed: Beck 2014 - rs111033392 Germline - - - 0 - LOVD OTOF - - - - - - NM_194248.2:c.2401_2402delinsTT - r.(?) p.(Glu801Leu) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.50573999C>T g.50346861C>T - - NRXN1_000073 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD NRXN1 - - - - - - NM_001135659.1:c.3485-109891G>A - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.70406718C>A g.70179586C>A - - C2orf42_000001 - PubMed: Beck 2014 - rs141350086 Germline - - - 0 - LOVD C2orf42 - - - - - - NM_017880.1:c.880G>T - r.(?) p.(Ala294Ser) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.74274547_74274552del g.74047420_74047425del - - TET3_000020 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD TET3 - - - - - - NM_144993.1:c.1098_1103del - r.(?) p.(Ala367_Pro368del) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.84668421G>A g.84441297G>A - - SUCLG1_000010 - PubMed: Beck 2014 - rs141331864 Germline - - - 0 - LOVD SUCLG1 - - - - - - NM_003849.3:c.481C>T - r.(?) p.(Arg161Cys) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.85571285C>T g.85344162C>T - - RETSAT_000002 - PubMed: Beck 2014 - rs41289947 Germline - - - 0 - LOVD RETSAT - - - - - - NM_017750.3:c.1370G>A - r.(?) p.(Arg457Gln) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.97875561G>C g.97209824G>C - - ANKRD36_000033 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD ANKRD36 - - - - - - NM_001164315.1:c.3319G>C - r.(?) p.(Val1107Leu) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.190428384G>A g.189563658G>A - - SLC40A1_000006 - PubMed: Beck 2014 - rs45606432 Germline - - - 0 - LOVD SLC40A1 - - - - - - NM_014585.5:c.1328C>T - r.(?) p.(Pro443Leu) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.198631285T>C g.197766561T>C - - BOLL_000001 - PubMed: Beck 2014 - rs61642236 Germline - - - 0 - LOVD BOLL - - - - - - NM_033030.5:c.523A>G - r.(?) p.(Ile175Val) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.219530673T>C g.218665950T>C - - RNF25_000002 - PubMed: Beck 2014 - rs149561416 Germline - - - 0 - LOVD RNF25 - - - - - - NM_022453.2:c.539A>G - r.(?) p.(Gln180Arg) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.220079686G>C g.219214964G>C - - ABCB6_000047 - PubMed: Beck 2014 - rs111852229 Germline - - - 0 - LOVD ABCB6 - - - - - - NM_005689.2:c.1273C>G - r.(?) p.(Leu425Val) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.220103915G>A g.219239193G>A - - GLB1L_000003 - PubMed: Beck 2014 - rs148493267 Germline - - - 0 - LOVD GLB1L - - - - - - NM_024506.3:c.961C>T - r.(?) p.(Arg321Cys) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.232325396_232325398del g.231460685_231460687del - - NCL_000007 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD NCL - - - - - - NM_005381.2:c.798_800del - r.(?) p.(Glu271del) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.233323405C>T g.232458695C>T - - ALPI_000004 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD ALPI - - - - - - NM_001631.3:c.1247C>T - r.(?) p.(Pro416Leu) - - - - - - - - - - - - - - - - - - -
4 Parent #1 ?/. - VUS g.5633675_5633677del g.5631948_5631950del - - EVC2_000134 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD EVC2 - - - - - - NM_147127.4:c.1560_1562del - r.(?) p.(Glu520del) - - - - - - - - - - - - - - - - - - -
4 Unknown ?/. - VUS g.5667334C>A g.5665607C>A - - EVC2_000032 - PubMed: Beck 2014 - rs150367317 Germline - - - 0 - LOVD EVC2 - - - - - - NM_147127.4:c.913G>T - r.(?) p.(Ala305Ser) - - - - - - - - - - - - - - - - - - -
4 Unknown ?/. - VUS g.5667343A>T g.5665616A>T - - EVC2_000033 - PubMed: Beck 2014 - rs138728350 Germline - - - 0 - LOVD EVC2 - - - - - - NM_147127.4:c.904T>A - r.(?) p.(Phe302Ile) - - - - - - - - - - - - - - - - - - -
7 Parent #1 ?/. - VUS g.21828959T>C g.21789341T>C - - DNAH11_000161 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD DNAH11 - - - - - - NM_001277115.1:c.10025T>C - r.(?) p.(Val3342Ala) - - - - - - - - - - - - - - - - - - -
7 Unknown ?/. - VUS g.21847518C>G g.21807900C>G - - CDCA7L_000098 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD DNAH11 - - - - - - NM_001277115.1:c.10183C>G - r.(?) p.(Gln3395Glu) - - - - - - - - - - - - - - - - - - -
7 Unknown ?/. - VUS g.21940816G>A g.21901198G>A - - CDCA7L_000005 - PubMed: Beck 2014 - rs143362381 Germline - - - 0 - LOVD DNAH11 - - - - - - NM_001277115.1:c.13495G>A - r.(?) p.(Glu4499Lys) - - - - - - - - - - - - - - - - - - -
9 Parent #1 ?/. - VUS g.100092918G>C g.97330636G>C - - C9orf174_000007 - PubMed: Beck 2014 - rs79340881 Germline - - - 0 - LOVD C9orf174 - - - - - - NM_020893.2:c.2275G>C - r.(?) p.(Gly759Arg) - - - - - - - - - - - - - - - - - - -
9 Parent #2 ?/. - VUS g.100133973G>A g.97371691G>A - - C9orf174_000008 - PubMed: Beck 2014 - rs2306093 Germline - - - 0 - LOVD C9orf174 - - - - - - NM_020893.2:c.4717G>A - r.(?) p.(Asp1573Asn) - - - - - - - - - - - - - - - - - - -
12 Parent #1 ?/. - VUS g.7047854G>C g.6938691G>C - - ATN1_000137 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD ATN1 - - - - - - NM_001007026.1:c.2728G>C - r.(?) p.(Ala910Pro) - - - - - - - - - - - - - - - - - - -
12 Parent #2 ?/. - VUS g.7047949C>G g.6938786C>G - - C12orf57_000008 - PubMed: Beck 2014 - rs146691350 Germline - - - 0 - LOVD ATN1 - - - - - - NM_001007026.1:c.2823C>G - r.(?) p.(Asp941Glu) - - - - - - - - - - - - - - - - - - -
12 Parent #2 ?/. - VUS g.48458902T>G g.48065119T>G - - SENP1_000002 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD SENP1 - - - - - - NM_001267594.1:c.1221A>C - r.(?) p.(Gln407His) - - - - - - - - - - - - - - - - - - -
12 Parent #1 ?/. - VUS g.48482726T>C g.48088943T>C - - SENP1_000003 - PubMed: Beck 2014 - rs112688170 Germline - - - 0 - LOVD SENP1 - - - - - - NM_001267594.1:c.238A>G - r.(?) p.(Ser80Gly) - - - - - - - - - - - - - - - - - - -
12 Parent #1 ?/. - VUS g.53445723G>A g.53051939G>A - - TENC1_000005 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD TENC1 - - - - - - NM_170754.2:c.160G>A - r.(?) p.(Asp54Asn) - - - - - - - - - - - - - - - - - - -
12 Parent #2 ?/. - VUS g.53453014G>A g.53059230G>A - - TENC1_000006 - PubMed: Beck 2014 - rs186505042 Germline - - - 0 - LOVD TENC1 - - - - - - NM_170754.2:c.1589G>A - r.(?) p.(Arg530Gln) - - - - - - - - - - - - - - - - - - -
12 Both (homozygous) ?/. - VUS g.81661833C>T g.81268054C>T - - PPFIA2_000005 - PubMed: Beck 2014 - rs61756413 Germline - - - 0 - LOVD PPFIA2 - - - - - - NM_001220473.1:c.3344G>A - r.(?) p.(Arg1115His) - - - - - - - - - - - - - - - - - - -
12 Unknown +?/. - likely pathogenic (recessive) g.89885848C>G g.89492071C>G - - POC1B_000001 - PubMed: Beck 2014 - - Germline yes - - 0 - Johan den Dunnen POC1B - - - - - - NM_172240.2:c.317G>C - r.(?) p.(Arg106Pro) - - - - - - - - - - - - - - - - - - -
12 Both (homozygous) ?/. - VUS g.89885848C>G g.89492071C>G - - POC1B_000001 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD POC1B - - - - - - NM_172240.2:c.317G>C - r.(?) p.(Arg106Pro) - - - - - - - - - - - - - - - - - - -
12 Both (homozygous) ?/. - VUS g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Beck 2014 - rs5030857 Germline - - - 0 - LOVD PAH - - - - - - NM_000277.1:c.1208C>T - r.(?) p.(Ala403Val) - - - - - - - - - - - - - - - - - - -
12 Parent #1 ?/. - VUS g.124815439T>C g.124330893T>C - - NCOR2_000046 - PubMed: Beck 2014 - rs2228587 Germline - - - 0 - LOVD NCOR2 - - - - - - NM_006312.5:c.6910A>G - r.(?) p.(Ser2304Gly) - - - - - - - - - - - - - - - - - - -
12 Parent #2 ?/. - VUS g.124957669G>T g.124473123G>T - - NCOR2_000047 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD NCOR2 - - - - - - NM_006312.5:c.420C>A - r.(?) p.(Ser140Arg) - - - - - - - - - - - - - - - - - - -
15 Parent #1 ?/. - VUS g.52505390A>G g.52213193A>G - - MYO5C_000006 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD MYO5C - - - - - - NM_018728.3:c.4136T>C - r.(?) p.(Ile1379Thr) - - - - - - - - - - - - - - - - - - -
15 Parent #2 ?/. - VUS g.52539165G>A g.52246968G>A - - MYO5C_000007 - PubMed: Beck 2014 - rs56250328 Germline - - - 0 - LOVD MYO5C - - - - - - NM_018728.3:c.1928C>T - r.(?) p.(Thr643Met) - - - - - - - - - - - - - - - - - - -
15 Parent #1 ?/. - VUS g.90814578G>A g.90271346G>A - - NGRN_000001 - PubMed: Beck 2014 - rs116320466 Germline - - - 0 - LOVD NGRN - - - - - - NM_001033088.1:c.434G>A - r.(?) p.(Gly145Glu) - - - - - - - - - - - - - - - - - - -
15 Parent #2 ?/. - VUS g.90814944A>G g.90271712A>G - - NGRN_000002 - PubMed: Beck 2014 - rs16944113 Germline - - - 0 - LOVD NGRN - - - - - - NM_001033088.1:c.800A>G - r.(?) p.(Asp267Gly) - - - - - - - - - - - - - - - - - - -
16 Parent #1 ?/. - VUS g.815549T>C g.765549T>C - - MSLN_000001 - PubMed: Beck 2014 - rs75279195 Germline - - - 0 - LOVD MSLN - - - - - - NM_001177355.1:c.727T>C - r.(?) p.(Ser243Pro) - - - - - - - - - - - - - - - - - - -
16 Parent #2 ?/. - VUS g.815565T>C g.765565T>C - - MSLN_000002 - PubMed: Beck 2014 - rs77260498 Germline - - - 0 - LOVD MSLN - - - - - - NM_001177355.1:c.743T>C - r.(?) p.(Leu248Pro) - - - - - - - - - - - - - - - - - - -
17 Parent #1 ?/. - VUS g.18148496G>A g.18245182G>A - - FLII_000004 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD FLII - - - - - - NM_002018.3:c.3766C>T - r.(?) p.(Arg1256Cys) - - - - - - - - - - - - - - - - - - -
17 Parent #2 ?/. - VUS g.18155793T>A g.18252479T>A - - FLII_000005 - PubMed: Beck 2014 - rs61741784 Germline - - - 0 - LOVD FLII - - - - - - NM_002018.3:c.1091A>T - r.(?) p.(Glu364Val) - - - - - - - - - - - - - - - - - - -
17 Both (homozygous) ?/. - VUS g.34324806T>C g.35997770T>C - - CCL15_000001 - PubMed: Beck 2014 - rs147708747 Germline - - - 0 - LOVD CCL15 - - - - - - NM_032965.4:c.339A>G - r.(?) p.(Ile113Met) - - - - - - - - - - - - - - - - - - -
17 Both (homozygous) ?/. - VUS g.39535305G>A g.41379053G>A - - KRT34_000002 - PubMed: Beck 2014 - rs61740668 Germline - - - 0 - LOVD KRT34 - - - - - - NM_021013.3:c.1126C>T - r.(?) p.(Arg376Trp) - - - - - - - - - - - - - - - - - - -
17 Both (homozygous) ?/. - VUS g.73758896G>A g.75762815G>A - - GALK1_000017 - PubMed: Beck 2014 - - Germline - - - 0 - LOVD GALK1 - - - - - - NM_000154.1:c.682C>T - r.(?) p.(Arg228Cys) - - - - - - - - - - - - - - - - - - -
20 Parent #1 ?/. - VUS g.44511257G>A g.45882618G>A - - ZSWIM1_000001 - PubMed: Beck 2014 - rs35972756 Germline - - - 0 - LOVD ZSWIM1 - - - - - - NM_080603.4:c.26G>A - r.(?) p.(Trp9*) - - - - - - - - - - - - - - - - - - -
20 Parent #2 ?/. - VUS g.44512082G>A g.45883443G>A - - ZSWIM1_000002 - PubMed: Beck 2014 - rs45447691 Germline - - - 0 - LOVD ZSWIM1 - - - - - - NM_080603.4:c.851G>A - r.(?) p.(Arg284His) - - - - - - - - - - - - - - - - - - -
Legend   How to query