Full data view for gene GATA4

Information The variants shown are described using the NM_002052.3 transcript reference sequence.

246 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-30237A>G r.(?) p.(=) Unknown - VUS g.11532034A>G - GATA4(NM_001308094.2):c.-2812A>G - GATA4_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-458+5G>A r.spl? p.? Unknown - benign g.11561818G>A g.11704309G>A GATA4(NM_002052.3):c.-458+5G>A (p.(=)) - GATA4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-457-28del r.(=) p.(=) Unknown - likely benign g.11565337del g.11707828del - - GATA4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-345G>A r.(?) p.(=) Unknown - likely benign g.11565477G>A g.11707968G>A - - GATA4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-26A>G r.(?) p.(=) Unknown - likely benign g.11565796A>G g.11708287A>G - - GATA4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.13T>C r.(?) p.(Leu5=) Unknown - VUS g.11565834T>C g.11708325T>C GATA4(NM_001308093.1):c.13T>C (p.(Leu5=)) - GATA4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.13T>C r.(?) p.(Leu5=) Unknown - likely benign g.11565834T>C - GATA4(NM_001308093.1):c.13T>C (p.(Leu5=)) - GATA4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.25G>C r.(?) p.(Ala9Pro) Maternal (inferred) - VUS g.11565846G>C g.11708337G>C - - GATA4_000001 - - - - Germline - - - - - DNA SEQ - - TOF - - - - yes China - - - - - 1 Yi-Qing Yang
?/. - c.48_71del r.(?) p.(Tyr18_Ala25del) Unknown - VUS g.11565869_11565892del - GATA4(NM_002052.3):c.42_65del (p.(Tyr18_Ala25del)), GATA4(NM_002052.5):c.48_71delTGCCTACGAGGCGGGCGGCCCCGG (p.Y18_A25del) - GATA4_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.48_71del r.(?) p.(Tyr18_Ala25del) Unknown - VUS g.11565869_11565892del - GATA4(NM_002052.3):c.42_65del (p.(Tyr18_Ala25del)), GATA4(NM_002052.5):c.48_71delTGCCTACGAGGCGGGCGGCCCCGG (p.Y18_A25del) - GATA4_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.55G>A r.(?) p.(Glu19Lys) Unknown - VUS g.11565876G>A g.11708367G>A GATA4(NM_002052.4):c.55G>A (p.E19K), GATA4(NM_002052.5):c.55G>A (p.E19K) - GATA4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.55G>A r.(?) p.(Glu19Lys) Unknown - VUS g.11565876G>A - GATA4(NM_002052.4):c.55G>A (p.E19K), GATA4(NM_002052.5):c.55G>A (p.E19K) - GATA4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.90G>C r.(?) p.(Ala30=) Unknown - likely benign g.11565911G>C g.11708402G>C GATA4(NM_001308093.1):c.90G>C (p.(Ala30=)) - GATA4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.99G>T r.(?) p.(Ala33=) Unknown - benign g.11565920G>T - GATA4(NM_001308093.1):c.99G>T (p.(Ala33=)), GATA4(NM_002052.5):c.99G>T (p.A33=) - GATA4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99G>T r.(?) p.(Ala33=) Unknown - likely benign g.11565920G>T - GATA4(NM_001308093.1):c.99G>T (p.(Ala33=)), GATA4(NM_002052.5):c.99G>T (p.A33=) - GATA4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.151C>G r.(?) p.(Leu51Val) Maternal (inferred) - VUS g.11565972C>G g.11708463C>G - - GATA4_000002 - - - - Germline - - - - - DNA SEQ - - TOF - - - - yes China - - - - - 1 Yi-Qing Yang
-?/. - c.223G>C r.(?) p.(Ala75Pro) Unknown - likely benign g.11566044G>C g.11708535G>C GATA4(NM_002052.4):c.223G>C (p.A75P) - GATA4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.223G>T r.(?) p.(Ala75Ser) Unknown - likely benign g.11566044G>T - GATA4(NM_001308093.1):c.223G>T (p.(Ala75Ser)) - GATA4_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240C>T r.(?) p.(Pro80=) Unknown - likely benign g.11566061C>T - GATA4(NM_002052.3):c.240C>T (p.(=)) - GATA4_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.330C>T r.(?) p.(Phe110=) Unknown - likely benign g.11566151C>T - GATA4(NM_002052.3):c.330C>T (p.(=)) - GATA4_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.338C>G r.(?) p.(Thr113Ser) Unknown - likely benign g.11566159C>G g.11708650C>G GATA4(NM_002052.3):c.338C>G (p.(Thr113Ser)) - GATA4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348C>T r.(?) p.(Ser116=) Unknown - likely benign g.11566169C>T g.11708660C>T GATA4(NM_001308093.1):c.348C>T (p.(Ser116=)), GATA4(NM_001308093.3):c.348C>T (p.S116=), GATA4(NM_002052.4):c.348C>T (p.S116=), GATA4(NM_002052.5):c... - GATA4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348C>T r.(?) p.(Ser116=) Unknown - likely benign g.11566169C>T g.11708660C>T GATA4(NM_001308093.1):c.348C>T (p.(Ser116=)), GATA4(NM_001308093.3):c.348C>T (p.S116=), GATA4(NM_002052.4):c.348C>T (p.S116=), GATA4(NM_002052.5):c... - GATA4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348C>T r.(?) p.(Ser116=) Unknown - likely benign g.11566169C>T g.11708660C>T GATA4(NM_001308093.1):c.348C>T (p.(Ser116=)), GATA4(NM_001308093.3):c.348C>T (p.S116=), GATA4(NM_002052.4):c.348C>T (p.S116=), GATA4(NM_002052.5):c... - GATA4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348C>T r.(?) p.(Ser116=) Unknown - likely benign g.11566169C>T g.11708660C>T GATA4(NM_001308093.1):c.348C>T (p.(Ser116=)), GATA4(NM_001308093.3):c.348C>T (p.S116=), GATA4(NM_002052.4):c.348C>T (p.S116=), GATA4(NM_002052.5):c... - GATA4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348C>T r.(?) p.(Ser116=) Unknown - likely benign g.11566169C>T - GATA4(NM_001308093.1):c.348C>T (p.(Ser116=)), GATA4(NM_001308093.3):c.348C>T (p.S116=), GATA4(NM_002052.4):c.348C>T (p.S116=), GATA4(NM_002052.5):c... - GATA4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.376G>A r.(?) p.(Ala126Thr) Unknown - VUS g.11566197G>A - GATA4(NM_001308093.3):c.376G>A (p.(Ala126Thr)) - GATA4_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.387T>A r.(?) p.(Ala129=) Unknown - likely benign g.11566208T>A - GATA4(NM_002052.3):c.387T>A (p.(=)) - GATA4_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.405C>G r.(?) p.(=) Unknown - likely benign g.11566226C>G - GATA4(NM_002052.3):c.405C>G (p.(Gly135=)) - GATA4_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.419dup r.(?) p.(Ala141CysfsTer69) Unknown - likely pathogenic g.11566240dup g.11708731dup - - GATA4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.462C>T r.(?) p.(Phe154=) Unknown - likely benign g.11566283C>T g.11708774C>T GATA4(NM_001308093.1):c.462C>T (p.(Phe154=)), GATA4(NM_002052.5):c.462C>T (p.F154=) - GATA4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.462C>T r.(?) p.(Phe154=) Unknown - likely benign g.11566283C>T g.11708774C>T GATA4(NM_001308093.1):c.462C>T (p.(Phe154=)), GATA4(NM_002052.5):c.462C>T (p.F154=) - GATA4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.462C>T r.(?) p.(Phe154=) Unknown - likely benign g.11566283C>T g.11708774C>T GATA4(NM_001308093.1):c.462C>T (p.(Phe154=)), GATA4(NM_002052.5):c.462C>T (p.F154=) - GATA4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.481C>A r.(?) p.(Pro161Thr) Unknown - VUS g.11566302C>A - GATA4(NM_002052.3):c.481C>A (p.(Pro161Thr)) - GATA4_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.487C>T r.(?) p.(Pro163Ser) Unknown - likely benign g.11566308C>T g.11708799C>T GATA4(NM_001308093.1):c.487C>T (p.(Pro163Ser)), GATA4(NM_002052.5):c.487C>T (p.P163S) - GATA4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487C>T r.(?) p.(Pro163Ser) Unknown - VUS g.11566308C>T g.11708799C>T GATA4(NM_001308093.1):c.487C>T (p.(Pro163Ser)), GATA4(NM_002052.5):c.487C>T (p.P163S) - GATA4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487C>T r.(?) p.(Pro163Ser) Unknown - VUS g.11566308C>T - GATA4(NM_001308093.1):c.487C>T (p.(Pro163Ser)), GATA4(NM_002052.5):c.487C>T (p.P163S) - GATA4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.499G>A r.(?) p.(Ala167Thr) Unknown - likely benign g.11566320G>A - GATA4(NM_002052.3):c.499G>A (p.(Ala167Thr)) - GATA4_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.501C>A r.(?) p.(Ala167=) Unknown - likely benign g.11566322C>A - GATA4(NM_002052.3):c.501C>A (p.(=)) - GATA4_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505G>A r.(?) p.(Val169Met) Unknown - VUS g.11566326G>A - GATA4(NM_002052.3):c.505G>A (p.(Val169Met)) - GATA4_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.530C>T r.(?) p.(Ala177Val) Unknown - VUS g.11566351C>T - GATA4(NM_002052.3):c.530C>T (p.(Ala177Val)) - GATA4_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.531C>A r.(?) p.(Ala177=) Unknown - likely benign g.11566352C>A - GATA4(NM_001308093.1):c.531C>A (p.(Ala177=)) - GATA4_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543C>T r.(?) p.(Ala181=) Unknown - likely benign g.11566364C>T g.11708855C>T GATA4(NM_001308093.1):c.543C>T (p.(Ala181=)), GATA4(NM_002052.4):c.543C>T (p.A181=) - GATA4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543C>T r.(?) p.(Ala181=) Unknown - likely benign g.11566364C>T - GATA4(NM_001308093.1):c.543C>T (p.(Ala181=)), GATA4(NM_002052.4):c.543C>T (p.A181=) - GATA4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.588C>T r.(?) p.(=) Unknown - likely benign g.11566409C>T - GATA4(NM_002052.3):c.588C>T (p.(=)) - GATA4_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.598G>T r.(?) p.(Ala200Ser) Unknown - likely benign g.11566419G>T g.11708910G>T - - GATA4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.609C>T r.(?) p.(Pro203=) Unknown - likely benign g.11566430C>T g.11708921C>T GATA4(NM_002052.5):c.609C>T (p.P203=) - GATA4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.609C>T r.(?) p.(Pro203=) Unknown - likely benign g.11566430C>T - GATA4(NM_002052.5):c.609C>T (p.P203=) - GATA4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.611A>G r.(?) p.(Asn204Ser) Unknown - likely benign g.11566432A>G g.11708923A>G GATA4(NM_001308093.1):c.611A>G (p.(Asn204Ser)) - GATA4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.615C>A r.(?) p.(Leu205=) Unknown - likely benign g.11566436C>A - GATA4(NM_002052.3):c.615C>A (p.(=)) - GATA4_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.616+15G>A r.(=) p.(=) Unknown - likely benign g.11566452G>A g.11708943G>A GATA4(NM_001308093.1):c.616+15G>A (p.(=)) - GATA4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.616+15G>A r.(=) p.(=) Unknown - likely benign g.11566452G>A - GATA4(NM_001308093.1):c.616+15G>A (p.(=)) - GATA4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.616+2765C>A r.(=) p.(=) Unknown - VUS g.11569202C>A - GATA4(NM_001308093.3):c.616+2765C>A - GATA4_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.617-116T>C r.(=) p.(=) Unknown - benign g.11606312T>C g.11748803T>C GATA4(NM_001308093.3):c.617-113T>C, GATA4(NM_002052.5):c.617-116T>C - GATA4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.617-116T>C r.(=) p.(=) Unknown - likely benign g.11606312T>C g.11748803T>C GATA4(NM_001308093.3):c.617-113T>C, GATA4(NM_002052.5):c.617-116T>C - GATA4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.617-116T>C r.(=) p.(=) Unknown - benign g.11606312T>C - GATA4(NM_001308093.3):c.617-113T>C, GATA4(NM_002052.5):c.617-116T>C - GATA4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.617-64G>C r.(=) p.(=) Unknown - benign g.11606364G>C g.11748855G>C GATA4(NM_001308093.3):c.617-61G>C, GATA4(NM_002052.5):c.617-64G>C - GATA4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.617-64G>C r.(=) p.(=) Unknown - benign g.11606364G>C g.11748855G>C GATA4(NM_001308093.3):c.617-61G>C, GATA4(NM_002052.5):c.617-64G>C - GATA4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.617-64G>C r.(=) p.(=) Unknown - benign g.11606364G>C - GATA4(NM_001308093.3):c.617-61G>C, GATA4(NM_002052.5):c.617-64G>C - GATA4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.627C>T r.(?) p.(Asp209=) Unknown - likely benign g.11606438C>T g.11748929C>T GATA4(NM_001308093.1):c.630C>T (p.(Asp210=)), GATA4(NM_002052.4):c.627C>T (p.D209=) - GATA4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.627C>T r.(?) p.(Asp209=) Unknown - likely benign g.11606438C>T - GATA4(NM_001308093.1):c.630C>T (p.(Asp210=)), GATA4(NM_002052.4):c.627C>T (p.D209=) - GATA4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.651T>G r.(?) p.(Cys217Trp) Unknown - VUS g.11606462T>G g.11748953T>G GATA4(NM_002052.4):c.651T>G (p.C217W) - GATA4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.675C>T r.(?) p.(=) Unknown - likely benign g.11606486C>T - GATA4(NM_002052.3):c.675C>T (p.(=)) - GATA4_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.684G>C r.(?) p.(Trp228Cys) Parent #1 - likely pathogenic g.11606495G>C g.11748986G>C - 46,XY GATA4_000014 father not analysed PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat220 PubMed: Eggers 2016 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.699G>A r.(?) p.(Thr233=) Unknown - likely benign g.11606510G>A g.11749001G>A GATA4(NM_001308093.1):c.702G>A (p.(Thr234=)), GATA4(NM_002052.4):c.699G>A (p.T233=) - GATA4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.699G>A r.(?) p.(Thr233=) Unknown - likely benign g.11606510G>A - GATA4(NM_001308093.1):c.702G>A (p.(Thr234=)), GATA4(NM_002052.4):c.699G>A (p.T233=) - GATA4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.708T>G r.(708u>g) p.(Tyr236*) Unknown - pathogenic (dominant) g.11606519T>G g.11749010T>G g.72052T>G - GATA4_000138 - - - - Germline/De novo (untested) - - - - - DNA SEQ heart - CHD - - - - - - - - - - - 1 Yi-Qing Yang
-?/. - c.717C>T r.(?) p.(Asn239=) Unknown - likely benign g.11606528C>T g.11749019C>T - - GATA4_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.723C>T r.(?) p.(Cys241=) Unknown - likely benign g.11606534C>T - GATA4(NM_001308093.1):c.726C>T (p.(Cys242=)) - GATA4_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.732C>T r.(?) p.(Tyr244=) Unknown - likely benign g.11606543C>T - GATA4(NM_001308093.1):c.735C>T (p.(Tyr245=)) - GATA4_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.769C>T r.(?) p.(Pro257Ser) Unknown - VUS g.11606580C>T - GATA4(NM_002052.3):c.769C>T (p.(Pro257Ser)) - GATA4_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.775C>T r.(?) p.(Arg259Cys) Unknown - VUS g.11606586C>T g.11749077C>T - - GATA4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.783+8C>T r.(=) p.(=) Unknown - likely benign g.11606602C>T - GATA4(NM_001308093.1):c.786+8C>T (p.(=)) - GATA4_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.783+15C>T r.(=) p.(=) Unknown - likely benign g.11606609C>T g.11749100C>T GATA4(NM_002052.3):c.783+15C>T (p.(=)), GATA4(NM_002052.5):c.783+15C>T - GATA4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.783+15C>T r.(=) p.(=) Unknown - likely benign g.11606609C>T - GATA4(NM_002052.3):c.783+15C>T (p.(=)), GATA4(NM_002052.5):c.783+15C>T - GATA4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.783+181T>G r.(=) p.(=) Unknown - VUS g.11606775T>G g.11749266T>G - - GATA4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.784-116G>A r.(=) p.(=) Unknown - likely benign g.11607504G>A g.11749995G>A - - GATA4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.784-93G>A r.(=) p.(=) Unknown - likely benign g.11607527G>A g.11750018G>A - - GATA4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.786C>T r.(?) p.(=) Unknown - likely benign g.11607622C>T - GATA4(NM_002052.3):c.786C>T (p.(Ser262Ser)) - GATA4_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.787G>T r.(?) p.(Ala263Ser) Unknown - VUS g.11607623G>T - GATA4(NM_002052.5):c.787G>T (p.A263S) - GATA4_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.799G>A r.(?) p.(Val267Met) Unknown - likely benign g.11607635G>A - GATA4(NM_002052.5):c.799G>A (p.V267M) - GATA4_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.822C>T r.(?) p.(Cys274=) Unknown - likely benign g.11607658C>T g.11750149C>T GATA4(NM_001308093.1):c.825C>T (p.(Cys275=)), GATA4(NM_002052.4):c.822C>T (p.C274=), GATA4(NM_002052.5):c.822C>T (p.C274=) - GATA4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.822C>T r.(?) p.(Cys274=) Unknown - likely benign g.11607658C>T g.11750149C>T GATA4(NM_001308093.1):c.825C>T (p.(Cys275=)), GATA4(NM_002052.4):c.822C>T (p.C274=), GATA4(NM_002052.5):c.822C>T (p.C274=) - GATA4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.822C>T r.(?) p.(Cys274=) Unknown - likely benign g.11607658C>T g.11750149C>T GATA4(NM_001308093.1):c.825C>T (p.(Cys275=)), GATA4(NM_002052.4):c.822C>T (p.C274=), GATA4(NM_002052.5):c.822C>T (p.C274=) - GATA4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.822C>T r.(?) p.(Cys274=) Unknown - likely benign g.11607658C>T - GATA4(NM_001308093.1):c.825C>T (p.(Cys275=)), GATA4(NM_002052.4):c.822C>T (p.C274=), GATA4(NM_002052.5):c.822C>T (p.C274=) - GATA4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.840G>A r.(?) p.(Thr280=) Unknown - likely benign g.11607676G>A - GATA4(NM_002052.3):c.840G>A (p.(=)) - GATA4_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850C>T r.(?) p.(Arg284Cys) Unknown - VUS g.11607686C>T g.11750177C>T GATA4(NM_002052.5):c.850C>T (p.R284C) - GATA4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.851G>A r.(?) p.(Arg284His) Paternal (confirmed) - likely pathogenic g.11607687G>A g.11750178G>A - - GATA4_000004 - PubMed: El Malti 2016, Journal: El Malti 2016 - - Germline yes 1/156 patients - - - DNA SEQ blood - CHD MC180 PubMed: El Malti 2016, Journal: El Malti 2016 - F no France European >12y - yes - 1 Patrice Bouvagnet
?/. 4 c.854A>G r.(?) p.(Asn285Ser) Paternal (confirmed) - VUS g.11607690A>G g.11750181A>G - - GATA4_000003 - - - - Germline - - - - - DNA SEQ - - TOF - - - - yes China - - - - - 1 Yi-Qing Yang
?/. - c.857C>T r.(?) p.(Ala286Val) Unknown - VUS g.11607693C>T g.11750184C>T GATA4(NM_002052.3):c.857C>T (p.(Ala286Val)), GATA4(NM_002052.4):c.857C>T (p.A286V), GATA4(NM_002052.5):c.857C>T (p.A286V) - GATA4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.857C>T r.(?) p.(Ala286Val) Unknown - VUS g.11607693C>T g.11750184C>T GATA4(NM_002052.3):c.857C>T (p.(Ala286Val)), GATA4(NM_002052.4):c.857C>T (p.A286V), GATA4(NM_002052.5):c.857C>T (p.A286V) - GATA4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.857C>T r.(?) p.(Ala286Val) Unknown - VUS g.11607693C>T - GATA4(NM_002052.3):c.857C>T (p.(Ala286Val)), GATA4(NM_002052.4):c.857C>T (p.A286V), GATA4(NM_002052.5):c.857C>T (p.A286V) - GATA4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.858G>A r.(?) p.(Ala286=) Unknown - likely benign g.11607694G>A g.11750185G>A GATA4(NM_001308093.1):c.861G>A (p.(Ala287=)), GATA4(NM_002052.4):c.858G>A (p.A286=) - GATA4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.858G>A r.(?) p.(Ala286=) Unknown - likely benign g.11607694G>A - GATA4(NM_001308093.1):c.861G>A (p.(Ala287=)), GATA4(NM_002052.4):c.858G>A (p.A286=) - GATA4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.867G>C r.(?) p.(Glu289Asp) Unknown - VUS g.11607703G>C - GATA4(NM_002052.3):c.867G>C (p.(Glu289Asp)) - GATA4_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.885C>T r.(?) p.(Cys295=) Unknown - benign g.11607721C>T - GATA4(NM_001308093.1):c.888C>T (p.(Cys296=)) - GATA4_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.906C>T r.(?) p.(His302=) Unknown - likely benign g.11607742C>T - GATA4(NM_002052.3):c.906C>T (p.(=)) - GATA4_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909+4C>A r.spl? p.? Unknown - likely benign g.11607749C>A g.11750240C>A GATA4(NM_001308093.1):c.912+4C>A (p.?) - GATA4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909+16G>A r.(=) p.(=) Unknown - likely benign g.11607761G>A - GATA4(NM_002052.3):c.909+16G>A (p.(=)) - GATA4_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909+25G>A r.(=) p.(=) Unknown - likely benign g.11607770G>A g.11750261G>A GATA4(NM_001308093.3):c.912+25G>A, GATA4(NM_002052.5):c.909+25G>A - GATA4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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