Full data view for gene ARID1B

Information The variants shown are described using the transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA 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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CAAHD, CSS, EPM1A, IVA, JBS, JBTS1, JBTS13, KTZS, LCCS1, MCLMR, MDDGC5;LGMDR9;LGMD2I, PSORS, USH3B Pat2 PubMed: Santen 2013 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat10;Pat1;Pat256 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat12 PubMed: Santen 2013 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat15;Pat4;Pat314 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat16;Pat5 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat18 PubMed: Santen 2013 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Both (homozygous) - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Both (homozygous) - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat28;Pat10 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat29;Pat11 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat30;Pat24 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat31;Pat25 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Both (homozygous) - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat33 PubMed: Santen 2013 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat34;Pat26 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Both (homozygous) - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat37 PubMed: Santen 2013 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat39;Pat27;Pat324 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat42 PubMed: Santen 2013 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Both (homozygous) - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat46 PubMed: Santen 2013 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat48 PubMed: Santen 2013 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat49;Pat32 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat50;Pat33 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Both (homozygous) - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat51;Pat34;Pat328 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - NCBRS Pat52 PubMed: Santen 2013 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat56;Pat40 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Both (homozygous) - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat70 PubMed: Santen 2013 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CAAHD, CSS, EPM1A, IVA, JBS, JBTS1, JBTS13, KTZS, LCCS1, MCLMR, MDDGC5;LGMDR9;LGMD2I, PSORS, USH3B Pat2 PubMed: Santen 2013 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat10;Pat1;Pat256 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat12 PubMed: Santen 2013 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat15;Pat4;Pat314 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat16;Pat5 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat18 PubMed: Santen 2013 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Both (homozygous) - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Both (homozygous) - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat28;Pat10 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat29;Pat11 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat30;Pat24 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat31;Pat25 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Both (homozygous) - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat33 PubMed: Santen 2013 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat34;Pat26 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Both (homozygous) - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat37 PubMed: Santen 2013 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat39;Pat27;Pat324 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat42 PubMed: Santen 2013 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Both (homozygous) - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat46 PubMed: Santen 2013 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat48 PubMed: Santen 2013 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat49;Pat32 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat50;Pat33 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Both (homozygous) - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat51;Pat34;Pat328 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - NCBRS Pat52 PubMed: Santen 2013 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS Pat56;Pat40 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 1 Gijs Santen
?/? - c.2038-35G>A r.(=) p.(=) Unknown - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
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