All variants in the GAB3 gene

Information The variants shown are described using the NM_001081573.1 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.-743129_*340614dup - - - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.9G>A r.(?) p.(Ala3=) - likely benign g.153979292C>T - GAB3(NM_001081573.2):c.9G>A (p.A3=) - GAB3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.110G>A r.(?) p.(Arg37His) - VUS g.153944567C>T g.154716292C>T - - GAB3_000019 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.404C>T r.(?) p.(Thr135Met) - likely benign g.153941674G>A - GAB3(NM_001081573.2):c.404C>T (p.T135M) - GAB3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.712C>T r.(?) p.(Pro238Ser) - VUS g.153940861G>A g.154712586G>A - - GAB3_000018 recurrent, found 12 times PubMed: Tarpey 2009 - - Germline - 12/208 cases - 0 - Lucy Raymond
-?/. - c.752C>T r.(?) p.(Ser251Leu) - likely benign g.153940821G>A - GAB3(NM_001081573.2):c.752C>T (p.S251L) - GAB3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.793G>T r.(?) p.(Gly265Trp) - likely benign g.153940780C>A g.154712505C>A GAB3(NM_001081573.2):c.793G>T (p.G265W) - GAB3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.932G>A r.(?) p.(Arg311His) - VUS g.153940641C>T g.154712366C>T GAB3(NM_001081573.2):c.932G>A (p.R311H) - GAB3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1091T>C r.(?) p.(Leu364Ser) - VUS g.153928313A>G g.154700038A>G - - GAB3_000017 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.1133G>A r.(?) p.(Arg378Lys) - likely benign g.153927781C>T - GAB3(NM_001081573.2):c.1133G>A (p.R378K) - GAB3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1421T>C r.(?) p.(Val474Ala) - likely benign g.153925413A>G g.154697138A>G GAB3(NM_001081573.2):c.1421T>C (p.V474A) - GAB3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1423C>G r.(?) p.(Pro475Ala) - VUS g.153925411G>C g.154697136G>C GAB3(NM_001081573.1):c.1423C>G (p.(Pro475Ala)) - GAB3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1531-307C>T r.(=) p.(=) - VUS g.153908832G>A g.154680555= - - GAB3_000003 - - - - Germline - - - - - Yu Sun
-?/. - c.1696G>A r.(?) p.(Glu566Lys) - likely benign g.153906523C>T g.154678246C>T GAB3(NM_001081573.2):c.1696G>A (p.E566K) - GAB3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.*77dup r.(=) p.(=) - VUS g.153906393dup g.154678116dup - - GAB3_000001 - - - - Germline - - - - - Yu Sun
?/. - c.*77dup r.(=) p.(=) - VUS g.153906393dup g.154678116dup - - GAB3_000001 - - - - Germline - - - - - Yu Sun
?/. - c.*79del r.(=) p.(=) - VUS g.153906376del g.154678099del - - GAB3_000010 - - - - Germline - - - - - Yu Sun
?/. - c.*1982G>A r.(=) p.(=) - VUS g.153904473C>T g.154676196= - - GAB3_000007 - - - - Germline - - - - - Yu Sun
?/. - c.*1982G>A r.(=) p.(=) - VUS g.153904473C>T g.154676196= - - GAB3_000007 - - - - Germline - - - - - Yu Sun
?/. - c.*2058T>C r.(=) p.(=) - VUS g.153904397A>G g.154676120A>G - - GAB3_000004 - - - - Germline - - - - - Yu Sun
?/. - c.*2058T>C r.(=) p.(=) - VUS g.153904397A>G g.154676120A>G - - GAB3_000004 - - - - Germline - - - - - Yu Sun
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