ClinVar for Gene (Select 2627) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 condition	GPathogenic
Select item 3057723	NM_005257.6(GATA6):c.519G>T (p.Ala173=)	GATA6	Single nucleotide variant (synonymous variant)	GATA6-related condition	GLikely benign
Select item 3057085	NM_005257.6(GATA6):c.540G>C (p.Ala180=)	GATA6	Single nucleotide variant (synonymous variant)	GATA6-related condition	GLikely benign
Select item 3053468	NM_005257.6(GATA6):c.447G>C (p.Gln149His)	GATA6 (Q149H)	Single nucleotide variant (missense variant)	GATA6-related condition	GUncertain significance
Select item 3047125	NM_005257.6(GATA6):c.1138C>T (p.Leu380=)	GATA6	Single nucleotide variant (synonymous variant)	GATA6-related condition	GLikely benign
Select item 3044668	NM_005257.6(GATA6):c.525G>C (p.Ala175=)	GATA6	Single nucleotide variant (synonymous variant)	GATA6-related condition	GLikely benign
Select item 3041124	NM_005257.6(GATA6):c.15C>G (p.Asp5Glu)	GATA6 (D5E)	Single nucleotide variant (missense variant)	GATA6-related condition	GUncertain significance
Select item 3037848	NM_005257.6(GATA6):c.534A>T (p.Ala178=)	GATA6	Single nucleotide variant (synonymous variant)	GATA6-related condition	GLikely benign
Select item 3037461	NM_005257.6(GATA6):c.546G>C (p.Ala182=)	GATA6	Single nucleotide variant (synonymous variant)	GATA6-related condition	GLikely benign
Select item 3037391	NM_005257.6(GATA6):c.519G>C (p.Ala173=)	GATA6	Single nucleotide variant (synonymous variant)	GATA6-related condition	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)	Atrioventricular septal defect 5	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	GUncertain significance
Select item 2770803	NM_005257.6(GATA6):c.1723G>T (p.Ala575Ser)	GATA6 (A575S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2769787	NM_005257.6(GATA6):c.646G>A (p.Ala216Thr)	GATA6 (A216T)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2768735	NM_005257.6(GATA6):c.682G>A (p.Ala228Thr)	GATA6 (A228T)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2766251	NM_005257.6(GATA6):c.1099G>A (p.Gly367Arg)	GATA6 (G367R)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2765069	NM_005257.6(GATA6):c.1620+19T>C	GATA6	Single nucleotide variant (intron variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2761025	NM_005257.6(GATA6):c.160C>G (p.Pro54Ala)	GATA6 (P54A)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2758481	NM_005257.6(GATA6):c.1303-13G>T	GATA6	Single nucleotide variant (intron variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2756982	NM_005257.6(GATA6):c.1770C>T (p.Cys590=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2755290	NM_005257.6(GATA6):c.782C>T (p.Ala261Val)	GATA6 (A261V)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2750051	NM_005257.6(GATA6):c.399C>T (p.Gly133=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2740010	NM_005257.6(GATA6):c.889G>C (p.Gly297Arg)	GATA6 (G297R)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2739089	NM_005257.6(GATA6):c.867C>T (p.Gly289=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2738565	NM_005257.6(GATA6):c.1689G>A (p.Ser563=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2737975	NM_005257.6(GATA6):c.303C>T (p.Gly101=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2737751	NM_005257.6(GATA6):c.1596C>G (p.Pro532=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2735793	NM_005257.6(GATA6):c.2T>A (p.Met1Lys)	GATA6 (M1K)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 5	GUncertain significance
Select item 2735570	NM_005257.6(GATA6):c.991_992insTGG (p.His331delinsLeuAsp)	GATA6	Insertion (inframe_indel)	Atrioventricular septal defect 5	GUncertain significance
Select item 2733101	NM_005257.6(GATA6):c.128C>A (p.Ser43Tyr)	GATA6 (S43Y)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2730694	NM_005257.6(GATA6):c.1398T>C (p.Asn466=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2729463	NM_005257.6(GATA6):c.886G>T (p.Gly296Cys)	GATA6 (G296C)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2726613	NM_005257.6(GATA6):c.1217C>G (p.Thr406Ser)	GATA6 (T406S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2723181	NM_005257.6(GATA6):c.1634T>A (p.Val545Glu)	GATA6 (V545E)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2722973	NM_005257.6(GATA6):c.1281C>T (p.Leu427=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2714443	NM_005257.6(GATA6):c.1621-14C>T	GATA6	Single nucleotide variant (intron variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2713809	NM_005257.6(GATA6):c.1634T>G (p.Val545Gly)	GATA6 (V545G)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2711575	NM_005257.6(GATA6):c.923C>A (p.Pro308His)	GATA6 (P308H)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2706331	NM_005257.6(GATA6):c.1488G>T (p.Lys496Asn)	GATA6 (K496N)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2705365	NM_005257.6(GATA6):c.1382G>T (p.Gly461Val)	GATA6 (G461V)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2705143	NM_005257.6(GATA6):c.1070C>T (p.Pro357Leu)	GATA6 (P357L)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2703888	NM_005257.6(GATA6):c.1620+7A>T	GATA6	Single nucleotide variant (intron variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2694591	NM_005257.6(GATA6):c.1303-8G>C	GATA6	Single nucleotide variant (intron variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2693416	NM_005257.6(GATA6):c.1774CTGGCC[3] (p.Ala595_Ter596insLeuAla)	GATA6	Microsatellite (inframe_insertion)	Atrioventricular septal defect 5	GUncertain significance
Select item 2690915	NM_005257.6(GATA6):c.729_730del (p.Gly244fs)	GATA6 (G244fs)	Deletion (frameshift variant)	Conotruncal heart malformations	GPathogenic
Select item 2672719	NM_005257.6(GATA6):c.124T>C (p.Ser42Pro)	GATA6 (S42P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662506	NM_005257.6(GATA6):c.66C>A (p.Ser22Arg)	GATA6 (S22R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648617	NM_005257.6(GATA6):c.1646C>T (p.Ala549Val)	GATA6 (A549V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648616	NM_005257.6(GATA6):c.912C>G (p.Gly304=)	GATA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636358	NM_005257.6(GATA6):c.1378G>A (p.Glu460Lys)	GATA6 (E460K)	Single nucleotide variant (missense variant)	GATA6-related condition	GUncertain significance
Select item 2635908	NM_005257.6(GATA6):c.1136-3C>A	GATA6	Single nucleotide variant (intron variant)	GATA6-related condition	GUncertain significance
Select item 2633208	NM_005257.6(GATA6):c.83C>T (p.Pro28Leu)	GATA6 (P28L)	Single nucleotide variant (missense variant)	GATA6-related condition	GUncertain significance
Select item 2633198	NM_005257.6(GATA6):c.976C>T (p.His326Tyr)	GATA6 (H326Y)	Single nucleotide variant (missense variant)	GATA6-related condition	GUncertain significance

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