Individual #00024276

ID_report -
Reference PubMed: Hamdan 2011
Remarks 50 cases
Gender -
Consanguinity -
Country Canada
Population French
Age at death -
VIP -
Data_av -
Treatment -
Panel size 50
Diseases ID
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-11-15 10:49:27 +01:00 (CET)
Date last edited 2022-06-27 19:53:54 +02:00 (CEST)


Phenotypes

intellectual disability (ID) (ID)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

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Protein     

Owner     
0000020394 - - Isolated (sporadic) nonsyndromic intellectual disability (NSID), no dysmorphic features, birth weight/postnatal growth in normal limits, birth normal head circumference - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024268 DNA SEQ - - CACNG2, EPB41L1, GRIN1, KIF1A 98 Johan den Dunnen



Variants

98 entries on 1 page. Showing entries 1 - 98.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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dbSNP ID     

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VIP     

Methylation     

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IDbase Accession Number     

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Exon_old     

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Predict/MutationTaster     

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Type/DNA     

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mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
2 Unknown -?/. - likely benign g.241657431C>G g.240718014C>G - - KIF1A_000006 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.5333+36G>C, NM_004321.6:c.5030+36G>C - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241658401C>A g.240718984C>A - - KIF1A_000007 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.5214+22G>T, NM_004321.6:c.4911+22G>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Parent #1 -?/. - likely benign g.241658550C>T g.240719133C>T - - KIF1A_000008 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.5087G>A, NM_004321.6:c.4784G>A - r.(?) p.(Arg1696His), p.(Arg1595His) - - - - - - - - - - - - - -
2 Parent #1 -?/. - likely benign g.241658612C>T g.240719195C>T - - KIF1A_000009 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.5025G>A, NM_004321.6:c.4722G>A - r.(=), r.(?) p.(=), p.(Pro1574=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241659175G>A g.240719758G>A - - KIF1A_000010 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.5021+16C>T, NM_004321.6:c.4718+16C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Parent #1 -?/. - likely benign g.241659285C>T g.240719868C>T - - KIF1A_000011 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.4927G>A, NM_004321.6:c.4624G>A - r.(?) p.(Asp1643Asn), p.(Asp1542Asn) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241660387G>T g.240720970G>T - - KIF1A_000038 - PubMed: Hamdan 2011 - rs76974316 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.4812C>A, NM_004321.6:c.4509C>A - r.(=), r.(?) p.(=), p.(Thr1503=) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241661192G>A g.240721775G>A - - KIF1A_000058 - PubMed: Hamdan 2011 - rs11901423 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.4743+32C>T, NM_004321.6:c.4440+32C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241661319G>A g.240721902G>A - - KIF1A_000046 - PubMed: Hamdan 2011 - rs80067787 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.4666-18C>T, NM_004321.6:c.4363-18C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241661934G>A g.240722517G>A - - KIF1A_000039 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.4604C>T, NM_004321.6:c.4301C>T - r.(?) p.(Ala1535Val), p.(Ala1434Val) - - - - - - - - - - - - - -
2 Parent #1 -?/. - likely benign g.241662027G>A g.240722610G>A - - KIF1A_000012 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.4511C>T, NM_004321.6:c.4208C>T - r.(?) p.(Thr1504Ile), p.(Thr1403Ile) - - - - - - - - - - - - - -
2 Parent #1 -?/. - likely benign g.241662957C>T g.240723540C>T - - KIF1A_000013 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.4337G>A, NM_004321.6:c.4034G>A - r.(?) p.(Arg1446Gln), p.(Arg1345Gln) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241663375G>A g.240723958G>A - - KIF1A_000047 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.4318+17C>T, NM_004321.6:c.4015+17C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241664801C>T g.240725384C>T - - KIF1A_000048 - PubMed: Hamdan 2011 - rs2241683 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.4143G>A, NM_004321.6:c.3840G>A - r.(=), r.(?) p.(=), p.(Pro1280=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241666220G>A g.240726803G>A - - KIF1A_000014 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.4122+23C>T, NM_004321.6:c.3819+23C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241679464A>G g.240740047A>G - - KIF1A_000040 - PubMed: Hamdan 2011 - rs56847463 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.3901+11T>C, NM_004321.6:c.3598+11T>C - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241679488G>A g.240740071G>A - - KIF1A_000041 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.3888C>T, NM_004321.6:c.3585C>T - r.(=), r.(?) p.(=), p.(Arg1195=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241680638C>G g.240741221C>G - - KIF1A_000042 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.3749+48G>C, NM_004321.6:c.3446+48G>C - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241680644G>C g.240741227G>C - - KIF1A_000062 - PubMed: Hamdan 2011 - rs1013225 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.3749+42C>G, NM_004321.6:c.3446+42C>G - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241680802G>A g.240741385G>A - - KIF1A_000060 - PubMed: Hamdan 2011 - rs56024577 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.3641-8C>T, NM_004321.6:c.3338-8C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241682330C>T g.240742913C>T - - KIF1A_000015 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.3640+16G>A, NM_004321.6:c.3337+16G>A - r.(=) p.(=) - - - - - - - - - - - - - -
2 Parent #1 -?/. - likely benign g.241682387G>A g.240742970G>A - - KIF1A_000016 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.3599C>T, NM_004321.6:c.3296C>T - r.(?) p.(Ser1200Leu), p.(Ser1099Leu) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241683312G>A g.240743895G>A - - KIF1A_000051 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.3584+47C>T, NM_004321.6:c.3281+47C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241685084C>T g.240745667C>T - - KIF1A_000017 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.3374+71G>A, NM_004321.6:c.3071+71G>A - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241685115C>G g.240745698C>G - - KIF1A_000018 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.3374+40G>C, NM_004321.6:c.3071+40G>C - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241685120C>T g.240745703C>T - - KIF1A_000032 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.3374+35G>A, NM_004321.6:c.3071+35G>A - r.(=) p.(=) - - - - - - - - - - - - - -
2 Parent #1 -?/. - likely benign g.241685199C>T g.240745782C>T - - KIF1A_000005 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.3330G>A, NM_004321.6:c.3027G>A - r.(=), r.(?) p.(=), p.(Ala1009=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241685270G>A g.240745853G>A - - KIF1A_000043 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.3259C>T, NM_004321.6:c.2956C>T - r.(?) p.(Pro1087Ser), p.(Pro986Ser) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241685283G>A g.240745866G>A - - KIF1A_000033 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.3246C>T, NM_004321.6:c.2943C>T - r.(=), r.(?) p.(=), p.(Ala981=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241685446G>T g.240746029G>T - - KIF1A_000019 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.3202+10C>A, NM_004321.6:c.2899+10C>A - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241685586G>A g.240746169G>A - - KIF1A_000056 - PubMed: Hamdan 2011 - rs73102625 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.3072C>T, NM_004321.6:c.2769C>T - r.(=), r.(?) p.(=), p.(Ser923=) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241686636G>A g.240747219G>A - - KIF1A_000055 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.3063+17C>T, NM_004321.6:c.2760+17C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Parent #1 -?/. - likely benign g.241686737G>A g.240747320G>A - - KIF1A_000020 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.2979C>T, NM_004321.6:c.2676C>T - r.(=), r.(?) p.(=), p.(Ala892=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241689808G>A g.240750391G>A - - KIF1A_000044 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.2977+38C>T, NM_004321.6:c.2674+38C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241689833G>A g.240750416G>A - - KIF1A_000057 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.2977+13C>T, NM_004321.6:c.2674+13C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241689982C>T g.240750565C>T - - KIF1A_000052 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.2859-18G>A, NM_004321.6:c.2556-18G>A - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241697062G>C g.240757645G>C - - KIF1A_000034 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.2583-51C>G, NM_004321.6:c.2555+715C>G - r.(=) p.(=) - - - - - - - - - - - - - -
2 Parent #1 -?/. - likely benign g.241697884G>A g.240758467G>A - - KIF1A_000021 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.2475C>T, NM_004321.6:c.2448C>T - r.(=), r.(?) p.(=), p.(Tyr816=) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241700676G>A g.240761259G>A - - KIF1A_000059 - PubMed: Hamdan 2011 - rs35945835 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.2235C>T, NM_004321.6:c.2208C>T - r.(=), r.(?) p.(=), p.(Ala736=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241702124G>A g.240762707G>A - - KIF1A_000022 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.2116+12C>T, NM_004321.6:c.2089+12C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241702550G>A g.240763133G>A - - KIF1A_000023 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.1949+33C>T, NM_004321.6:c.1922+33C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241705110G>A g.240765693G>A - - KIF1A_000024 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.1768+17C>T, NM_004321.6:c.1741+17C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241706757T>C g.240767340T>C - - KIF1A_000054 - PubMed: Hamdan 2011 - rs35663732 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.1503A>G, NM_004321.6:c.1476A>G - r.(=), r.(?) p.(=), p.(Pro492=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241708481A>T g.240769064A>T - - KIF1A_000035 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.1497+69T>A, NM_004321.6:c.1470+69T>A - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241710381C>A g.240770964C>A - - KIF1A_000025 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.1341+7G>T, NM_004321.6:c.1314+7G>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241713646A>G g.240774229A>G - - KIF1A_000063 - PubMed: Hamdan 2011 - rs1063353 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.991T>C, NM_004321.6:c.991T>C - r.(=), r.(?) p.(=), p.(Leu331=) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241713717T>G g.240774300T>G - - KIF1A_000053 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.959-39A>C, NM_004321.6:c.959-39A>C - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241721935A>G g.240782518A>G - - KIF1A_000050 - PubMed: Hamdan 2011 - rs78169894 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.882+72T>C, NM_004321.6:c.882+72T>C - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241722445G>A g.240783028G>A - - KIF1A_000061 - PubMed: Hamdan 2011 - rs2288750 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.864+16C>T, NM_004321.6:c.864+16C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241724376G>T g.240784959G>T - - KIF1A_000026 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.720+30C>A, NM_004321.6:c.720+30C>A - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241725706C>T g.240786289C>T - - KIF1A_000027 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.608+46G>A, NM_004321.6:c.608+46G>A - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241725717G>A g.240786300G>A - - KIF1A_000036 - PubMed: Hamdan 2011 - rs13405424 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.608+35C>T, NM_004321.6:c.608+35C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -/. - benign g.241726646A>G g.240787229A>G - - KIF1A_000064 - PubMed: Hamdan 2011 - rs2288746 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.429+22T>C, NM_004321.6:c.429+22T>C - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241726704G>A g.240787287G>A - - KIF1A_000028 - PubMed: Hamdan 2011 - rs35139906 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.393C>T, NM_004321.6:c.393C>T - r.(=), r.(?) p.(=), p.(Asn131=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241727399G>T g.240787982G>T - - KIF1A_000049 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.363+69C>A, NM_004321.6:c.363+69C>A - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241727452G>A g.240788035G>A - - KIF1A_000029 - PubMed: Hamdan 2011 - rs7594569 Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.363+16C>T, NM_004321.6:c.363+16C>T - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241727627C>A g.240788210C>A - - KIF1A_000045 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.204G>T, NM_004321.6:c.204G>T - r.(=), r.(?) p.(=), p.(Ala68=) - - - - - - - - - - - - - -
2 Parent #1 -?/. - likely benign g.241728698C>T g.240789281C>T - - KIF1A_000030 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - - NM_001244008.1:c.138G>A, NM_004321.6:c.138G>A - r.(=), r.(?) p.(=), p.(Thr46=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241737029T>C g.240797612T>C - - KIF1A_000031 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.106+35A>G, NM_004321.6:c.106+35A>G - r.(=) p.(=) - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.241737040G>A g.240797623G>A - - KIF1A_000037 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen KIF1A - - - - i NM_001244008.1:c.106+24C>T, NM_004321.6:c.106+24C>T - r.(=) p.(=) - - - - - - - - - - - - - -
9 Unknown -?/. - likely benign g.140036636G>A g.137142184G>A - - GRIN1_000011 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - Johan den Dunnen GRIN1 - - - - i NM_007327.3:c.393+37G>A - r.(=) p.(=) - - - - - - - - - - - - - -
9 Unknown -?/. - likely benign g.140040315G>A g.137145863G>A - - GRIN1_000003 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - Johan den Dunnen GRIN1 - - - - - NM_007327.3:c.531G>A - r.(?) p.(Gln177=) - - - - - - - - - - - - - -
9 Parent #1 -?/. - likely benign g.140051142A>C g.137156690A>C - - GRIN1_000004 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen GRIN1 - - - - - NM_007327.3:c.693A>C - r.(?) p.(Val231=) - - - - - - - - - - - - - -
9 Unknown -/. - benign g.140051238A>G g.137156786A>G - - GRIN1_000012 - PubMed: Hamdan 2011 - rs6293 Unknown - 1/50 cases - - - Johan den Dunnen GRIN1 - - - - - NM_007327.3:c.789A>G - r.(?) p.(Pro263=) - - - - - - - - - - - - - -
9 Unknown -?/. - likely benign g.140053183T>G g.137158731T>G - - GRIN1_000005 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - Johan den Dunnen GRIN1 - - - - I NM_007327.3:c.1197+27T>G - r.(=) p.(=) - - - - - - - - - - - - - -
9 Unknown -?/. - likely benign g.140055685G>C g.137161233G>C - - GRIN1_000010 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - Johan den Dunnen GRIN1 - - - - i NM_007327.3:c.1339+36G>C - r.(=) p.(=) - - - - - - - - - - - - - -
9 Unknown -/. - benign g.140055876G>A g.137161424G>A - - GRIN1_000013 - PubMed: Hamdan 2011 - rs10747050 Unknown - 1/50 cases - - - Johan den Dunnen GRIN1 - - - - i NM_007327.3:c.1467+8G>A - r.(=) p.(=) - - - - - - - - - - - - - -
9 Unknown -?/. - likely benign g.140056456G>A g.137162004G>A - - GRIN1_000006 - PubMed: Hamdan 2011 - rs75783429 Unknown - 1/50 cases - - - Johan den Dunnen GRIN1 - - - - - NM_007327.3:c.1548G>A - r.(?) p.(Pro516=) - - - - - - - - - - - - - -
9 Unknown -?/. - likely benign g.140056985C>T g.137162533C>T - - GRIN1_000008 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - Johan den Dunnen GRIN1 - - - - i NM_007327.3:c.1864+17C>T - r.(=) p.(=) - - - - - - - - - - - - - -
9 Unknown -?/. - likely benign g.140058197G>A g.137163745G>A - - GRIN1_000009 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - Johan den Dunnen GRIN1 - - - - i NM_007327.3:c.2444-14G>A - r.(=) p.(=) - - - - - - - - - - - - - -
9 Unknown -?/. - likely benign g.140058583G>A g.137164131G>A - - GRIN1_000007 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - Johan den Dunnen GRIN1 - - - - I NM_007327.3:c.2589+227G>A - r.(=) p.(=) - - - - - - - - - - - - - -
20 Unknown -?/. - likely benign g.34761902C>A g.36173980C>A - - EPB41L1_000002 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - I NM_012156.2:c.177+26C>A - r.(=) p.(=) - - - - - - - - - - - - - -
20 Unknown -?/. - likely benign g.34765995G>A g.36178073G>A - - EPB41L1_000010 - PubMed: Hamdan 2011 - rs77545213 Unknown - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - i NM_012156.2:c.447+17G>A - r.(=) p.(=) - - - - - - - - - - - - - -
20 Parent #1 -?/. - likely benign g.34770234G>T g.36182312G>T - - EPB41L1_000011 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - - NM_012156.2:c.531G>T - r.(?) p.(Pro177=) - - - - - - - - - - - - - -
20 Unknown -/. - benign g.34773054G>C g.36185132G>C - - EPB41L1_000017 - PubMed: Hamdan 2011 - rs66823537 Unknown - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - - NM_012156.2:c.582G>C - r.(?) p.(Leu194=) - - - - - - - - - - - - - -
20 Unknown -?/. - likely benign g.34775692C>G g.36187770C>G - - EPB41L1_000003 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - I NM_012156.2:c.873+7C>G - r.(=) p.(=) - - - - - - - - - - - - - -
20 Unknown -?/. - likely benign g.34775727C>A g.36187805C>A - - EPB41L1_000012 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - i NM_012156.2:c.873+42C>A - r.(=) p.(=) - - - - - - - - - - - - - -
20 Unknown -?/. - likely benign g.34776431C>T g.36188509C>T - - EPB41L1_000004 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - I NM_012156.2:c.1026+10C>T - r.(=) p.(=) - - - - - - - - - - - - - -
20 Unknown -?/. - likely benign g.34776481T>G g.36188559T>G - - EPB41L1_000018 - PubMed: Hamdan 2011 - rs6060849 Unknown - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - i NM_012156.2:c.1026+60T>G - r.(=) p.(=) - - - - - - - - - - - - - -
20 Unknown -?/. - likely benign g.34778353G>A g.36190431G>A - - EPB41L1_000005 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - I NM_012156.2:c.1124+57G>A - r.(=) p.(=) - - - - - - - - - - - - - -
20 Parent #1 -?/. - likely benign g.34778601G>A g.36190679G>A - - EPB41L1_000006 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - - NM_012156.2:c.1182G>A - r.(?) p.(Arg394=) - - - - - - - - - - - - - -
20 Parent #1 -?/. - likely benign g.34782170A>G g.36194248A>G - - EPB41L1_000013 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - - NM_012156.2:c.1337A>G - r.(?) p.(His446Arg) - - - - - - - - - - - - - -
20 Unknown -/. - benign g.34782171T>C g.36194249T>C - - EPB41L1_000019 - PubMed: Hamdan 2011 - rs2295568 Unknown - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - - NM_012156.2:c.1338T>C - r.(?) p.(His446=) - - - - - - - - - - - - - -
20 Unknown -?/. - likely benign g.34785935C>G g.36198013C>G - - EPB41L1_000015 - PubMed: Hamdan 2011 - rs6089016 Unknown - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - - NM_012156.2:c.1640C>G - r.(?) p.(Pro547Arg) - - - - - - - - - - - - - -
20 Unknown -?/. - likely benign g.34797610G>A g.36209688G>A - - EPB41L1_000007 - PubMed: Hamdan 2011 - rs73905303 Unknown - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - - NM_012156.2:c.1869G>A - r.(?) p.(Thr623=) - - - - - - - - - - - - - -
20 Unknown -?/. - likely benign g.34797675G>A g.36209753G>A - - EPB41L1_000016 - PubMed: Hamdan 2011 - rs78442416 Unknown - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - - NM_012156.2:c.1934G>A - r.(?) p.(Arg645Gln) - - - - - - - - - - - - - -
20 Parent #1 -?/. - likely benign g.34797690C>T g.36209768C>T - - EPB41L1_000008 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - - NM_012156.2:c.1949C>T - r.(?) p.(Ser650Leu) - - - - - - - - - - - - - -
20 Parent #1 -?/. - likely benign g.34797706G>C g.36209784G>C - - EPB41L1_000014 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - - NM_012156.2:c.1965G>C - r.(?) p.(Leu655=) - - - - - - - - - - - - - -
20 Unknown -/. - benign g.34797801C>T g.36209879C>T - - EPB41L1_000020 - PubMed: Hamdan 2011 - rs73101499 Unknown - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - - NM_012156.2:c.2060C>T - r.(?) p.(Pro687Leu) - - - - - - - - - - - - - -
20 Unknown -?/. - likely benign g.34800345T>C g.36212423T>C - - EPB41L1_000021 - PubMed: Hamdan 2011 - rs73289652 Unknown - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - i NM_012156.2:c.2184+47T>C - r.(=) p.(=) - - - - - - - - - - - - - -
20 Unknown -?/. - likely benign g.34800363T>G g.36212441T>G - - EPB41L1_000009 - PubMed: Hamdan 2011 - rs73905304 Unknown - 1/50 cases - - - Johan den Dunnen EPB41L1 - - - - I NM_012156.2:c.2184+65T>G - r.(=) p.(=) - - - - - - - - - - - - - -
22 Parent #1 -?/. - likely benign g.36960730C>T g.36564683C>T - - CACNG2_000003 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen CACNG2 - - - - - NM_006078.3:c.640G>A - r.(?) p.(Ala214Thr) - - - - - - - - - - - - - -
22 Unknown -/. - benign g.36962353C>G g.36566306C>G - - CACNG2_000008 - PubMed: Hamdan 2011 - rs2267338 Unknown - 1/50 cases - - - Johan den Dunnen CACNG2 - - - - i NM_006078.3:c.436+47G>C - r.(=) p.(=) - - - - - - - - - - - - - -
22 Parent #1 -?/. - likely benign g.36962421C>T g.36566374C>T - - CACNG2_000002 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen CACNG2 - - - - - NM_006078.3:c.415G>A - r.(?) p.(Gly139Ser) - - - - - - - - - - - - - -
22 Unknown -?/. - likely benign g.36983500G>A g.36587453G>A - - CACNG2_000004 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - Johan den Dunnen CACNG2 - - - - i NM_006078.3:c.295+12C>T - r.(=) p.(=) - - - - - - - - - - - - - -
22 Parent #1 -?/. - likely benign g.36983540G>A g.36587493G>A - - CACNG2_000005 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - Johan den Dunnen CACNG2 - - - - - NM_006078.3:c.267C>T - r.(?) p.(Tyr89=) - - - - - - - - - - - - - -
22 Unknown -?/. - likely benign g.37098238T>C g.36702193T>C - - CACNG2_000006 - PubMed: Hamdan 2011 - - Unknown - 1/50 cases - - - Johan den Dunnen CACNG2 - - - - i NM_006078.3:c.211+173A>G - r.(=) p.(=) - - - - - - - - - - - - - -
22 Unknown -?/. - likely benign g.37098244A>T g.36702199A>T - - CACNG2_000007 - PubMed: Hamdan 2011 - rs41307225 Unknown - 1/50 cases - - - Johan den Dunnen CACNG2 - - - - i NM_006078.3:c.211+167T>A - r.(=) p.(=) - - - - - - - - - - - - - -
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