ClinVar for Gene (Select 2627) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3583188	NM_005257.6(GATA6):c.1135+2T>C	GATA6	Single nucleotide variant (splice donor variant)	Atrioventricular septal defect 5 +4 more	GLikely pathogenic
Select item 3583187	NM_005257.6(GATA6):c.37C>T (p.Arg13Cys)	GATA6 (R13C)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +4 more	GUncertain significance
Select item 3573900	NM_005257.6(GATA6):c.515C>T (p.Ser172Phe)	GATA6 (S172F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3573716	NM_005257.6(GATA6):c.338T>C (p.Leu113Pro)	GATA6 (L113P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3519073	NM_005257.6(GATA6):c.1597A>G (p.Thr533Ala)	GATA6 (T533A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3519072	NM_005257.6(GATA6):c.260C>A (p.Pro87His)	GATA6 (P87H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3519071	NM_005257.6(GATA6):c.737C>T (p.Ala246Val)	GATA6 (A246V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3519070	NM_005257.6(GATA6):c.489C>A (p.Asp163Glu)	GATA6 (D163E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3519067	NM_005257.6(GATA6):c.767C>T (p.Ala256Val)	GATA6 (A256V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3392179	GRCh37/hg19 18q11.1-11.2(chr18:18541419-19992750)x3	ABHD3, ESCO1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 3391862	GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3	ACAA2, ADNP2 +195 more	Copy number gain	not provided	GPathogenic
Select item 3390972	NM_005257.6(GATA6):c.1358C>A (p.Thr453Asn)	GATA6 (T453N)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 8, autosomal dominant	GLikely pathogenic
Select item 3390409	NM_005257.6(GATA6):c.1207C>G (p.Arg403Gly)	GATA6 (R403G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3389620	NM_005257.6(GATA6):c.983A>T (p.His328Leu)	GATA6 (H328L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3385320	NM_005257.6(GATA6):c.690_708del (p.Asp231fs)	GATA6 (D231fs)	Deletion (frameshift variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GLikely pathogenic
Select item 3373636	NM_005257.6(GATA6):c.919G>C (p.Glu307Gln)	GATA6 (E307Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372681	NM_005257.6(GATA6):c.442T>C (p.Tyr148His)	GATA6 (Y148H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371568	NM_005257.6(GATA6):c.667C>T (p.Pro223Ser)	GATA6 (P223S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371395	NM_005257.6(GATA6):c.1586A>T (p.Asn529Ile)	GATA6 (N529I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371120	NM_005257.6(GATA6):c.770C>A (p.Ala257Glu)	GATA6 (A257E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370395	NM_005257.6(GATA6):c.1385A>G (p.Glu462Gly)	GATA6 (E462G)	Single nucleotide variant (missense variant)	GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes	GUncertain significance
Select item 3369718	NM_005257.6(GATA6):c.733G>T (p.Gly245Trp)	GATA6 (G245W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369125	NM_005257.6(GATA6):c.-1G>A	GATA6	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3368514	NM_005257.6(GATA6):c.875G>C (p.Gly292Ala)	GATA6 (G292A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367079	NM_005257.6(GATA6):c.148G>T (p.Gly50Ter)	GATA6 (G50*)	Single nucleotide variant (nonsense)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GLikely pathogenic
Select item 3366035	NM_005257.6(GATA6):c.1013C>G (p.Ser338Trp)	GATA6 (S338W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364946	NM_005257.6(GATA6):c.536C>G (p.Ala179Gly)	GATA6 (A179G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364128	NM_005257.6(GATA6):c.433GAG[1] (p.Glu146del)	GATA6 (E146del)	Microsatellite	not provided	GUncertain significance
Select item 3362645	NM_005257.6(GATA6):c.1137C>G (p.Asp379Glu)	GATA6 (D379E)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GUncertain significance
Select item 3359945	NM_005257.6(GATA6):c.1700G>A (p.Gly567Glu)	GATA6 (G567E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358683	NM_005257.6(GATA6):c.836C>G (p.Pro279Arg)	GATA6 (P279R)	Single nucleotide variant (missense variant)	GATA6-related disorder	GUncertain significance
Select item 3345168	NM_005257.6(GATA6):c.118T>C (p.Ser40Pro)	GATA6 (S40P)	Single nucleotide variant (missense variant)	GATA6-related disorder	GUncertain significance
Select item 3343651	NM_005257.6(GATA6):c.895_918dup (p.Arg306_Glu307insSerLeuAlaAlaMetGlyGlyArg)	GATA6	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3343129	NM_005257.6(GATA6):c.685T>A (p.Ser229Thr)	GATA6 (S229T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3280855	NM_005257.6(GATA6):c.761C>T (p.Ser254Leu)	GATA6 (S254L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253533	NM_005257.6(GATA6):c.950G>T (p.Arg317Leu)	GATA6 (R317L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253041	NM_005257.6(GATA6):c.1646_1666del (p.Ala549_Pro555del)	GATA6	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3252727	NM_005257.6(GATA6):c.446A>C (p.Gln149Pro)	GATA6 (Q149P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252319	NM_005257.6(GATA6):c.287C>T (p.Ala96Val)	GATA6 (A96V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236107	NM_005257.6(GATA6):c.1441C>A (p.Leu481Ile)	GATA6 (L481I)	Single nucleotide variant (missense variant)	Atrial septal defect 9	GUncertain significance
Select item 3234469	NM_005257.6(GATA6):c.861T>C (p.Ser287=)	GATA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3098763	NM_005257.6(GATA6):c.412C>T (p.Pro138Ser)	GATA6 (P138S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098762	NM_005257.6(GATA6):c.178T>C (p.Cys60Arg)	GATA6 (C60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 3061267	NM_005257.6(GATA6):c.1498_1501del (p.Lys500fs)	GATA6 (K500fs)	Microsatellite (frameshift variant)	GATA6-related disorder	GPathogenic
Select item 3057723	NM_005257.6(GATA6):c.519G>T (p.Ala173=)	GATA6	Single nucleotide variant (synonymous variant)	GATA6-related disorder	GLikely benign
Select item 3057085	NM_005257.6(GATA6):c.540G>C (p.Ala180=)	GATA6	Single nucleotide variant (synonymous variant)	GATA6-related disorder	GLikely benign
Select item 3053468	NM_005257.6(GATA6):c.447G>C (p.Gln149His)	GATA6 (Q149H)	Single nucleotide variant (missense variant)	GATA6-related disorder	GUncertain significance
Select item 3047125	NM_005257.6(GATA6):c.1138C>T (p.Leu380=)	GATA6	Single nucleotide variant (synonymous variant)	GATA6-related disorder	GLikely benign
Select item 3044668	NM_005257.6(GATA6):c.525G>C (p.Ala175=)	GATA6	Single nucleotide variant (synonymous variant)	GATA6-related disorder	GLikely benign
Select item 3041124	NM_005257.6(GATA6):c.15C>G (p.Asp5Glu)	GATA6 (D5E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3037848	NM_005257.6(GATA6):c.534A>T (p.Ala178=)	GATA6	Single nucleotide variant (synonymous variant)	GATA6-related disorder	GLikely benign
Select item 3037461	NM_005257.6(GATA6):c.546G>C (p.Ala182=)	GATA6	Single nucleotide variant (synonymous variant)	GATA6-related disorder	GLikely benign
Select item 3037391	NM_005257.6(GATA6):c.519G>C (p.Ala173=)	GATA6	Single nucleotide variant (synonymous variant)	GATA6-related disorder	GLikely benign
Select item 3021899	NM_005257.6(GATA6):c.1575T>G (p.Asp525Glu)	GATA6 (D525E)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 3017622	NM_005257.6(GATA6):c.621G>A (p.Gly207=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 3012102	NM_005257.6(GATA6):c.1000C>T (p.Pro334Ser)	GATA6 (P334S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 3007644	NM_005257.6(GATA6):c.1313G>A (p.Arg438Gln)	GATA6 (R438Q)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 3005441	NM_005257.6(GATA6):c.1516+20G>C	GATA6	Single nucleotide variant (intron variant)	Atrioventricular septal defect 5	GLikely benign
Select item 3001842	NM_005257.6(GATA6):c.1140G>A (p.Leu380=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2986963	NM_005257.6(GATA6):c.1429-17A>G	GATA6	Single nucleotide variant (intron variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2985819	NM_005257.6(GATA6):c.926A>G (p.Gln309Arg)	GATA6 (Q309R)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2983551	NM_005257.6(GATA6):c.1688C>G (p.Ser563Trp)	GATA6 (S563W)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2975059	NM_005257.6(GATA6):c.1638G>T (p.Met546Ile)	GATA6 (M546I)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2968852	NM_005257.6(GATA6):c.749G>T (p.Gly250Val)	GATA6 (G250V)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2968530	NM_005257.6(GATA6):c.618G>A (p.Gln206=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2919903	NM_005257.6(GATA6):c.929A>C (p.Tyr310Ser)	GATA6 (Y310S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2918932	NM_005257.6(GATA6):c.1492A>G (p.Ile498Val)	GATA6 (I498V)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2912796	NM_005257.6(GATA6):c.759C>T (p.Gly253=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2911583	NM_005257.6(GATA6):c.19G>A (p.Gly7Ser)	GATA6 (G7S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2908672	NM_005257.6(GATA6):c.613C>T (p.Leu205=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2904137	NM_005257.6(GATA6):c.1021G>T (p.Val341Leu)	GATA6 (V341L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2901727	NM_005257.6(GATA6):c.1302+20_1302+52del	GATA6	Deletion (intron variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2901651	NM_005257.6(GATA6):c.1596C>A (p.Pro532=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2901348	NM_005257.6(GATA6):c.946G>C (p.Ala316Pro)	GATA6 (A316P)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2899298	NM_005257.6(GATA6):c.234G>A (p.Leu78=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2891015	NM_005257.6(GATA6):c.490G>A (p.Gly164Ser)	GATA6 (G164S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2889166	NM_005257.6(GATA6):c.945C>T (p.Ala315=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2872292	NM_005257.6(GATA6):c.666C>T (p.His222=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2869136	NM_005257.6(GATA6):c.1135+6G>T	GATA6	Single nucleotide variant (intron variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2868394	NM_005257.6(GATA6):c.1119_1133dup (p.Ala378_Asp379insArgGlyProSerAla)	GATA6	Duplication (inframe_insertion)	Atrioventricular septal defect 5	GUncertain significance
Select item 2864542	NM_005257.6(GATA6):c.454G>T (p.Ala152Ser)	GATA6 (A152S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2861001	NM_005257.6(GATA6):c.670G>A (p.Gly224Ser)	GATA6 (G224S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2860034	NM_005257.6(GATA6):c.702A>C (p.Pro234=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2859476	NM_005257.6(GATA6):c.637G>A (p.Ala213Thr)	GATA6 (A213T)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2856215	NM_005257.6(GATA6):c.1621-15C>T	GATA6	Single nucleotide variant (intron variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2854611	NM_005257.6(GATA6):c.140C>G (p.Ser47Cys)	GATA6 (S47C)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2837283	NM_005257.6(GATA6):c.1155C>G (p.Ser385=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2836974	NM_005257.6(GATA6):c.1618G>C (p.Gly540Arg)	GATA6 (G540R)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2832790	NM_005257.6(GATA6):c.1107G>A (p.Pro369=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2829763	NM_005257.6(GATA6):c.128C>G (p.Ser43Cys)	GATA6 (S43C)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2822044	NM_005257.6(GATA6):c.1617A>G (p.Ser539=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2807112	NM_005257.6(GATA6):c.616C>T (p.Gln206Ter)	GATA6 (Q206*)	Single nucleotide variant (nonsense)	Atrioventricular septal defect 5	GPathogenic
Select item 2805597	NM_005257.6(GATA6):c.134C>T (p.Ser45Phe)	GATA6 (S45F)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2804150	NM_005257.6(GATA6):c.474T>C (p.Gly158=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2785800	NM_005257.6(GATA6):c.116T>C (p.Ile39Thr)	GATA6 (I39T)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2778798	NM_005257.6(GATA6):c.779C>T (p.Ser260Leu)	GATA6 (S260L)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2776424	NM_005257.6(GATA6):c.1136-19C>A	GATA6	Single nucleotide variant (intron variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2776255	NM_005257.6(GATA6):c.186G>A (p.Thr62=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2775458	NM_005257.6(GATA6):c.622T>A (p.Ser208Thr)	GATA6 (S208T)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance

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