All transcript variants in gene GATA6

Information The variants shown are described using the NM_005257.4 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-37-17C>A likely benign r.(=) p.(=) g.19751052C>A - GATA6(NM_005257.4):c.-37-17C>A (p.(=)) - GATA6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.43G>C likely benign r.(?) p.(Gly15Arg) g.19751148G>C - GATA6(NM_005257.5):c.43G>C (p.G15R) - GATA6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.43G>C likely benign r.(?) p.(Gly15Arg) g.19751148G>C - GATA6(NM_005257.5):c.43G>C (p.G15R) - GATA6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.43G>C benign r.(?) p.(Gly15Arg) g.19751148G>C - GATA6(NM_005257.5):c.43G>C (p.G15R) - GATA6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.60C>A VUS r.(?) p.(Asp20Glu) g.19751165C>A - GATA6(NM_005257.5):c.60C>A (p.D20E) - GATA6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.149G>A likely benign r.(?) p.(Gly50Glu) g.19751254G>A - GATA6(NM_005257.5):c.149G>A - GATA6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.222G>A benign r.(?) p.(=) g.19751327G>A - GATA6(NM_005257.5):c.222G>A (p.P74=) - GATA6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.271C>T VUS r.(?) p.(Pro91Ser) g.19751376C>T - GATA6(NM_005257.4):c.271C>T (p.(Pro91Ser)) - GATA6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.320C>G VUS r.(?) p.(Ser107Trp) g.19751425C>G - GATA6(NM_005257.5):c.320C>G - GATA6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.334T>C likely benign r.(?) p.(=) g.19751439T>C - GATA6(NM_005257.4):c.334T>C (p.(=)) - GATA6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.335T>G likely benign r.(?) p.(Leu112Trp) g.19751440T>G - GATA6(NM_005257.4):c.335T>G (p.(Leu112Trp)) - GATA6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.481G>T VUS r.(?) p.(Ala161Ser) g.19751586G>T - GATA6(NM_005257.4):c.481G>T (p.(Ala161Ser)) - GATA6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.546_547insAGCAGCCGCGGCGGC VUS r.(?) p.(Ala182_Ala183insSerSerArgGlyGly) g.19751651_19751652insAGCAGCCGCGGCGGC - GATA6(NM_005257.5):c.531_545dup - GATA6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.627C>A likely benign r.(?) p.(=) g.19751732C>A - GATA6(NM_005257.4):c.627C>A (p.(=)) - GATA6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.739_740insGCGGGGCG likely pathogenic r.(?) p.(Ala247Glyfs*50) g.19751844_19751845insGCGGGGCG - GATA6(NM_005257.5):c.730_737dup - GATA6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.849G>A likely benign r.(?) p.(=) g.19751954G>A - GATA6(NM_005257.5):c.849G>A - GATA6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.889G>A likely benign r.(?) p.(Gly297Ser) g.19751994G>A - GATA6(NM_005257.4):c.889G>A - GATA6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.941C>G likely benign r.(?) p.(Ser314Trp) g.19752046C>G - GATA6(NM_005257.4):c.941C>G (p.(Ser314Trp)) - GATA6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.968_969insACC likely benign r.(?) p.(Tyr323*) g.19752073_19752074insACC - GATA6(NM_005257.4):c.967_968insACC (p.(Tyr323_His324insHis)) - GATA6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.968_969insACCACC VUS r.(?) p.(Tyr323*) g.19752073_19752074insACCACC - GATA6(NM_005257.4):c.967_968insACCACC (p.(Tyr323_His324insHisHis)) - GATA6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.993_998dup VUS r.(?) p.(His332_His333dup) g.19752098_19752103dup - GATA6:NM_005257.4:c.967_968insACCACC - GATA6_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.998_1000del likely benign r.(?) p.(His333del) g.19752103_19752105del - GATA6(NM_005257.4):c.997_999del (p.(His333del)) - GATA6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1006C>T likely benign r.(?) p.(Pro336Ser) g.19752111C>T - GATA6(NM_005257.4):c.1006C>T (p.(Pro336Ser)) - GATA6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1023G>C likely benign r.(?) p.(=) g.19752128G>C - GATA6(NM_005257.5):c.1023G>C - GATA6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1103C>T likely benign r.(?) p.(Ala368Val) g.19752208C>T - GATA6(NM_005257.4):c.1103C>T (p.(Ala368Val)) - GATA6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1106C>G VUS r.(?) p.(Pro369Arg) g.19752211C>G - GATA6(NM_005257.4):c.1106C>G - GATA6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1135+9C>G likely benign r.(=) p.(=) g.19752249C>G - GATA6(NM_005257.4):c.1135+9C>G (p.(=)) - GATA6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.1170C>A likely pathogenic r.(?) p.(Cys390*) g.19756950C>A - GATA6(NM_005257.5):c.1170C>A (p.(Cys390Ter)) - GATA6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1170C>A likely pathogenic r.(?) p.(Cys390*) g.19756950C>A - GATA6(NM_005257.5):c.1170C>A (p.(Cys390Ter)) - GATA6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1298G>T likely benign r.(?) p.(Arg433Leu) g.19757078G>T - GATA6(NM_005257.4):c.1298G>T (p.(Arg433Leu)) - GATA6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1302+20C>T benign r.(=) p.(=) g.19757102C>T - GATA6(NM_005257.4):c.1302+20C>T (p.(=)) - GATA6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.1303-2A>G pathogenic r.spl? p.? g.19761412A>G - GATA6(NM_005257.5):c.1303-2A>G - GATA6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1350A>G likely benign r.(?) p.(=) g.19761461A>G - GATA6(NM_005257.4):c.1350A>G (p.(=)) - GATA6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1365G>A VUS r.(?) p.(Trp455*) g.19761476G>A - GATA6(NM_005257.4):c.1365G>A (p.(Trp455Ter)) - GATA6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.1367G>A likely pathogenic r.(?) p.(Arg456His) g.19761478G>A - GATA6(NM_005257.4):c.1367G>A - GATA6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1374C>T likely benign r.(?) p.(=) g.19761485C>T - GATA6(NM_005257.5):c.1374C>T (p.(=)) - GATA6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1374C>T benign r.(?) p.(=) g.19761485C>T - GATA6(NM_005257.5):c.1374C>T (p.(=)) - GATA6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1375G>A likely benign r.(?) p.(Ala459Thr) g.19761486G>A - GATA6(NM_005257.4):c.1375G>A (p.(Ala459Thr)) - GATA6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1377C>T likely benign r.(?) p.(=) g.19761488C>T - GATA6(NM_005257.4):c.1377C>T (p.(=)) - GATA6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1466A>C VUS r.(?) p.(Gln489Pro) g.19762755A>C - GATA6(NM_005257.4):c.1466A>C (p.(Gln489Pro)) - GATA6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1516+17G>A likely benign r.(=) p.(=) g.19762822G>A - GATA6(NM_005257.4):c.1516+17G>A (p.(=)) - GATA6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1602A>G likely benign r.(?) p.(=) g.19762986A>G - GATA6(NM_005257.5):c.1602A>G (p.(=)) - GATA6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1602A>G benign r.(?) p.(=) g.19762986A>G - GATA6(NM_005257.5):c.1602A>G (p.(=)) - GATA6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1605A>G likely benign r.(?) p.(=) g.19762989A>G - GATA6(NM_005257.4):c.1605A>G (p.(=)) - GATA6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1620+7A>G benign r.(=) p.(=) g.19763011A>G - GATA6(NM_005257.5):c.1620+7A>G - GATA6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1723G>C likely benign r.(?) p.(Ala575Pro) g.19780721G>C - GATA6(NM_005257.5):c.1723G>C - GATA6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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