All variants in the GBE1 gene

Information The variants shown are described using the NM_000158.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. - c.691+2T>C r.spl? p.? - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.691+2T>C r.spl? p.? - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.691+2T>C r.spl? p.? - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.691+2T>C r.spl? p.? - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.691+2T>C r.spl? p.? - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.691+2T>C r.spl p.? - pathogenic (recessive) g.81698005A>G g.81648854A>G - - GBE1_000027 - PubMed: Ravenscroft 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.691+2T>C r.spl p.? ACMG pathogenic (recessive) g.81698005A>G g.81648854A>G - - GBE1_000027 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - 0 - Gianina Ravenscroft
+?/. - c.691+2T>C r.spl p.? - likely pathogenic g.81698005A>G g.81648854A>G - - GBE1_000027 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
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