Full data view for gene GATA6

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

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.43G>C likely benign r.(?) p.(Gly15Arg) Unknown g.19751148G>C - GATA6(NM_005257.5):c.43G>C (p.G15R) - GATA6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.43G>C benign r.(?) p.(Gly15Arg) Unknown g.19751148G>C - GATA6(NM_005257.5):c.43G>C (p.G15R) - GATA6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.43G>C - r.(?) p.(Gly15Arg) Unknown g.19751148G>C g.22171187G>C - - GATA6_000001 6 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs116262672 Germline - 6/2789 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
?/. - c.60C>A VUS r.(?) p.(Asp20Glu) Unknown g.19751165C>A - GATA6(NM_005257.5):c.60C>A (p.D20E) - GATA6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.149G>A likely benign r.(?) p.(Gly50Glu) Unknown g.19751254G>A - - - GATA6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201G>T likely benign r.(?) p.(=) Unknown g.19751306G>T - - - GATA6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.222G>A benign r.(?) p.(=) Unknown g.19751327G>A - GATA6(NM_005257.5):c.222G>A (p.P74=) - GATA6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.271C>T VUS r.(?) p.(Pro91Ser) Unknown g.19751376C>T - - - GATA6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.320C>G VUS r.(?) p.(Ser107Trp) Unknown g.19751425C>G - - - GATA6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.335T>G likely benign r.(?) p.(Leu112Trp) Unknown g.19751440T>G - GATA6(NM_005257.4):c.335T>G (p.(Leu112Trp)) - GATA6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.531_545dup VUS r.(?) p.(Ala179_Ala183dup) Unknown g.19751636_19751650dup - - - GATA6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.592C>G - r.(?) p.(Leu198Val) Unknown g.19751697C>G g.22171736C>G - - GATA6_000047 10 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs387906814 Germline - 10/2706 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 10 Mohammed Faruq
+/. - c.712G>T - r.(?) p.(Gly238*) Unknown g.19751817G>T g.22171856G>T - - GATA6_000048 10 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs587777710 Germline - 10/2747 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 10 Mohammed Faruq
+?/. - c.730_737dup likely pathogenic r.(?) p.(Gly250Argfs*47) Unknown g.19751835_19751842dup - - - GATA6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.849G>A likely benign r.(?) p.(=) Unknown g.19751954G>A - - - GATA6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.889G>A likely benign r.(?) p.(Gly297Ser) Unknown g.19751994G>A - - - GATA6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1006C>T likely benign r.(?) p.(Pro336Ser) Unknown g.19752111C>T - GATA6(NM_005257.4):c.1006C>T (p.(Pro336Ser)) - GATA6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1023G>C likely benign r.(?) p.(=) Unknown g.19752128G>C - - - GATA6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1027G>A likely benign r.(?) p.(Ala343Thr) Unknown g.19752132G>A - - - GATA6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1106C>G VUS r.(?) p.(Pro369Arg) Unknown g.19752211C>G - - - GATA6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1170C>A likely pathogenic r.(?) p.(Cys390*) Unknown g.19756950C>A - - - GATA6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1303-2A>G pathogenic r.spl? p.? Unknown g.19761412A>G - GATA6(NM_005257.5):c.1303-2A>G - GATA6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1365G>A VUS r.(?) p.(Trp455*) Unknown g.19761476G>A - GATA6(NM_005257.4):c.1365G>A (p.(Trp455Ter)) - GATA6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1366C>T - r.(?) p.(Arg456Cys) Unknown g.19761477C>T g.22181516C>T - - GATA6_000049 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs387906818 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+?/. - c.1367G>A likely pathogenic r.(?) p.(Arg456His) Unknown g.19761478G>A - - - GATA6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1374C>T benign r.(?) p.(=) Unknown g.19761485C>T - - - GATA6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1417_1426del pathogenic r.(?) p.(Lys473Glyfs*8) Unknown g.19761528_19761537del - GATA6(NM_005257.5):c.1417_1426delAAACTCCATG (p.K473Gfs*8) - GATA6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1602A>G benign r.(?) p.(=) Unknown g.19762986A>G - - - GATA6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1620+7A>G benign r.(=) p.(=) Unknown g.19763011A>G - - - GATA6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1620+7A>G - r.(=) p.(=) Unknown g.19763011A>G g.22183050A>G - - GATA6_000040 172 heterozygous, 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs3764962 Germline - 174/2621 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 174 Mohammed Faruq
-?/. - c.1723G>C likely benign r.(?) p.(Ala575Pro) Unknown g.19780721G>C - - - GATA6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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