Unique variants in gene GATA6

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

29 entries on 1 page. Showing entries 1 - 29.
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Effect     

Reported     

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     
-/., -?/. 3 - c.43G>C r.(?) p.(Gly15Arg) - benign, likely benign g.19751148G>C g.22171187G>C GATA6(NM_005257.5):c.43G>C (p.G15R) - GATA6_000001 6 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs116262672 Germline, CLASSIFICATION record - 6/2795 individuals - - - Mohammed Faruq, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
?/. 1 - c.60C>A r.(?) p.(Asp20Glu) - VUS g.19751165C>A g.22171204C>A GATA6(NM_005257.5):c.60C>A (p.D20E) - GATA6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.149G>A r.(?) p.(Gly50Glu) - likely benign g.19751254G>A g.22171293G>A - - GATA6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.201G>T r.(?) p.(Thr67=) - likely benign g.19751306G>T g.22171345G>T - - GATA6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.222G>A r.(?) p.(Pro74=) - benign g.19751327G>A g.22171366G>A GATA6(NM_005257.5):c.222G>A (p.P74=) - GATA6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.271C>T r.(?) p.(Pro91Ser) - VUS g.19751376C>T g.22171415C>T - - GATA6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.320C>G r.(?) p.(Ser107Trp) - VUS g.19751425C>G g.22171464C>G - - GATA6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.335T>G r.(?) p.(Leu112Trp) - likely benign g.19751440T>G g.22171479T>G GATA6(NM_005257.4):c.335T>G (p.(Leu112Trp)) - GATA6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.519G>C r.(?) p.(Ala173=) - - g.19751624G>C - GATA6(NM_005257.5):c.519G>C (p.A173=) - GATA6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.531_545dup r.(?) p.(Ala179_Ala183dup) - VUS g.19751636_19751650dup g.22171675_22171689dup - - GATA6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.592C>G r.(?) p.(Leu198Val) - likely benign g.19751697C>G g.22171736C>G - - GATA6_000047 10 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs387906814 Germline - 10/2716 individuals - - - Mohammed Faruq
+/. 1 - c.712G>T r.(?) p.(Gly238*) - pathogenic g.19751817G>T g.22171856G>T - - GATA6_000048 10 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs587777710 Germline - 10/2757 individuals - - - Mohammed Faruq
+?/. 1 - c.730_737dup r.(?) p.(Gly250ArgfsTer47) - likely pathogenic g.19751835_19751842dup g.22171874_22171881dup - - GATA6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.849G>A r.(?) p.(Ala283=) - likely benign g.19751954G>A g.22171993G>A - - GATA6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.889G>A r.(?) p.(Gly297Ser) - likely benign g.19751994G>A g.22172033G>A - - GATA6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1006C>T r.(?) p.(Pro336Ser) - likely benign g.19752111C>T g.22172150C>T GATA6(NM_005257.4):c.1006C>T (p.(Pro336Ser)) - GATA6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1023G>C r.(?) p.(Val341=) - likely benign g.19752128G>C g.22172167G>C - - GATA6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1027G>A r.(?) p.(Ala343Thr) - likely benign g.19752132G>A g.22172171G>A - - GATA6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1106C>G r.(?) p.(Pro369Arg) - VUS g.19752211C>G g.22172250C>G - - GATA6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1170C>A r.(?) p.(Cys390Ter) - likely pathogenic g.19756950C>A g.22176989C>A - - GATA6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1303-2A>G r.spl? p.? - pathogenic g.19761412A>G g.22181451A>G GATA6(NM_005257.5):c.1303-2A>G - GATA6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1365G>A r.(?) p.(Trp455Ter) - VUS g.19761476G>A g.22181515G>A GATA6(NM_005257.4):c.1365G>A (p.(Trp455Ter)) - GATA6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1366C>T r.(?) p.(Arg456Cys) - pathogenic g.19761477C>T g.22181516C>T - - GATA6_000049 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs387906818 Germline - 1/2795 individuals - - - Mohammed Faruq
+?/. 1 - c.1367G>A r.(?) p.(Arg456His) - likely pathogenic g.19761478G>A g.22181517G>A - - GATA6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1374C>T r.(?) p.(Asn458=) - benign g.19761485C>T g.22181524C>T - - GATA6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1417_1426del r.(?) p.(Lys473GlyfsTer8) - pathogenic g.19761528_19761537del g.22181567_22181576del GATA6(NM_005257.5):c.1417_1426delAAACTCCATG (p.K473Gfs*8) - GATA6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1602A>G r.(?) p.(Thr534=) - benign g.19762986A>G g.22183025A>G - - GATA6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., -/. 3 - c.1620+7A>G r.(=) p.(=) - likely benign, benign g.19763011A>G g.22183050A>G - - GATA6_000040 172 heterozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item Faruq 2020, submtted - rs3764962 Germline, CLASSIFICATION record - 172/2795 individuals, 2/2795 individuals - - - Mohammed Faruq, VKGL-NL_Nijmegen
-?/. 1 - c.1723G>C r.(?) p.(Ala575Pro) - likely benign g.19780721G>C g.22200758G>C - - GATA6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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