ClinVar for MedGen (Select 482569) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 +1 more	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 2500038	NM_005257.6(GATA6):c.202G>C (p.Glu68Gln)	GATA6 (E68Q)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +4 more	GUncertain significance
Select item 2425331	NC_000018.9:g.(?_19383858)_(19780786_?)dup	GATA6, MIB1 +2 more	Duplication	Atrioventricular septal defect 5	GUncertain significance
Select item 2425330	NC_000018.9:g.(?_19780599)_(19780786_?)dup	GATA6	Duplication	Atrioventricular septal defect 5	GUncertain significance
Select item 2416321	NM_005257.6(GATA6):c.431C>G (p.Pro144Arg)	GATA6 (P144R)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2416230	NM_005257.6(GATA6):c.1302+12C>T	GATA6	Single nucleotide variant (intron variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2414099	NM_005257.6(GATA6):c.545C>G (p.Ala182Gly)	GATA6 (A182G)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2197382	NM_005257.6(GATA6):c.1529A>G (p.Asn510Ser)	GATA6 (N510S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2195847	NM_005257.6(GATA6):c.1135+6G>A	GATA6	Single nucleotide variant (intron variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2195608	NM_005257.6(GATA6):c.151G>T (p.Glu51Ter)	GATA6 (E51*)	Single nucleotide variant (nonsense)	GATA6-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2193657	NM_005257.6(GATA6):c.969CCA[5] (p.His329_His333del)	GATA6	Microsatellite (inframe_deletion)	Atrioventricular septal defect 5	GUncertain significance
Select item 2189882	NM_005257.6(GATA6):c.465C>T (p.Ser155=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2180436	NM_005257.6(GATA6):c.866G>A (p.Gly289Asp)	GATA6 (G289D)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2179826	NM_005257.6(GATA6):c.1660A>C (p.Asn554His)	GATA6 (N554H)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2175242	NM_005257.6(GATA6):c.734_754del (p.Gly245_Gly251del)	GATA6	Deletion (inframe_deletion)	Atrioventricular septal defect 5	GUncertain significance
Select item 2174924	NM_005257.6(GATA6):c.888C>T (p.Gly296=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2170478	NM_005257.6(GATA6):c.475C>T (p.Pro159Ser)	GATA6 (P159S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2168191	NM_005257.6(GATA6):c.1066A>C (p.Thr356Pro)	GATA6 (T356P)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2167296	NM_005257.6(GATA6):c.1236C>T (p.Asn412=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2166629	NM_005257.6(GATA6):c.273C>A (p.Pro91=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2165590	NM_005257.6(GATA6):c.1257G>A (p.Lys419=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2164797	NM_005257.6(GATA6):c.400G>A (p.Ala134Thr)	GATA6 (A134T)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2164424	NM_005257.6(GATA6):c.1647G>C (p.Ala549=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign

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