"Ambry Genetics"[submitter] AND "ABCC6"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328080	NM_001171.6(ABCC6):c.4193G>A (p.Arg1398Gln)	ABCC6 (R1284Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2491895	NM_001171.6(ABCC6):c.4006C>A (p.His1336Asn)	ABCC6 (H1222N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2155339	NM_001171.6(ABCC6):c.3992C>T (p.Ala1331Val)	ABCC6 (A1217V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2536396	NM_001171.6(ABCC6):c.3943C>T (p.Leu1315Phe)	ABCC6 (L1201F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553245	NM_001171.6(ABCC6):c.3796G>A (p.Glu1266Lys)	ABCC6 (E1152K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1409801	NM_001171.6(ABCC6):c.3548T>G (p.Val1183Gly)	ABCC6 (V1183G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1433717	NM_001171.6(ABCC6):c.3524T>C (p.Val1175Ala)	ABCC6 (V1175A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1479567	NM_001171.6(ABCC6):c.3488C>T (p.Pro1163Leu)	ABCC6 (P1163L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1394987	NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His)	ABCC6 (R1039H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2485071	NM_001171.6(ABCC6):c.3367G>C (p.Val1123Leu)	ABCC6 (V1123L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545282	NM_001171.6(ABCC6):c.3292T>C (p.Tyr1098His)	ABCC6 (Y984H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1380313	NM_001171.6(ABCC6):c.3191G>A (p.Arg1064Gln)	ABCC6 (R1064Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2232995	NM_001171.6(ABCC6):c.3157G>T (p.Asp1053Tyr)	ABCC6 (D1053Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1907172	NM_001171.6(ABCC6):c.3044G>A (p.Arg1015Gln)	ABCC6 (R901Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1414938	NM_001171.6(ABCC6):c.3043C>T (p.Arg1015Trp)	ABCC6 (R1015W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1983040	NM_001171.6(ABCC6):c.3023C>T (p.Ala1008Val)	ABCC6 (A894V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1898496	NM_001171.6(ABCC6):c.2917G>A (p.Asp973Asn)	ABCC6 (D973N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2543704	NM_001171.6(ABCC6):c.2821G>A (p.Ala941Thr)	ABCC6 (A827T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1519122	NM_001171.6(ABCC6):c.2769C>G (p.Asp923Glu)	ABCC6 (D809E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2305176	NM_001171.6(ABCC6):c.2738C>A (p.Pro913His)	ABCC6 (P913H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222550	NM_001171.6(ABCC6):c.2722G>A (p.Val908Ile)	ABCC6 (V794I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1413996	NM_001171.6(ABCC6):c.2675A>G (p.Lys892Arg)	ABCC6 (K778R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2612599	NM_001171.6(ABCC6):c.2669C>T (p.Ser890Phe)	ABCC6 (S776F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1510950	NM_001171.6(ABCC6):c.2650G>A (p.Glu884Lys)	ABCC6 (E770K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1033353	NM_001171.6(ABCC6):c.2237T>C (p.Ile746Thr)	ABCC6 (I632T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 2410323	NM_001171.6(ABCC6):c.2104G>A (p.Val702Met)	ABCC6 (V588M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2077783	NM_001171.6(ABCC6):c.2063G>A (p.Ser688Asn)	ABCC6 (S688N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2338883	NM_001171.6(ABCC6):c.1999G>A (p.Ala667Thr)	ABCC6 (A553T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1935476	NM_001171.6(ABCC6):c.1892T>C (p.Ile631Thr)	ABCC6 (I631T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2160111	NM_001171.6(ABCC6):c.1873G>A (p.Gly625Arg)	ABCC6 (G511R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1416301	NM_001171.6(ABCC6):c.1812C>A (p.Phe604Leu)	ABCC6 (F604L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1913642	NM_001171.6(ABCC6):c.1600G>T (p.Val534Leu)	ABCC6 (V420L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1903220	NM_001171.6(ABCC6):c.1493C>T (p.Ser498Leu)	ABCC6 (S498L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2533314	NM_001171.6(ABCC6):c.1297C>T (p.Pro433Ser)	ABCC6 (P319S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375412	NM_001171.6(ABCC6):c.1270G>A (p.Val424Ile)	ABCC6 (V310I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1025626	NM_001171.6(ABCC6):c.1195G>A (p.Gly399Ser)	ABCC6 (G285S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1690709	NM_001171.6(ABCC6):c.1120C>G (p.Leu374Val)	ABCC6 (L260V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1690715	NM_001171.6(ABCC6):c.1058C>T (p.Ala353Val)	ABCC6 (A239V +1 more)	Single nucleotide variant (missense variant +1 more)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 2338677	NM_001171.6(ABCC6):c.1057G>A (p.Ala353Thr)	ABCC6 (A353T +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC6-related condition +1 more	GUncertain significance
Select item 2233501	NM_001171.6(ABCC6):c.1046G>A (p.Gly349Asp)	ABCC6 (G235D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254650	NM_001171.6(ABCC6):c.1005C>A (p.Phe335Leu)	ABCC6 (F221L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481960	NM_001171.6(ABCC6):c.829G>A (p.Gly277Ser)	ABCC6 (G277S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2258430	NM_001171.6(ABCC6):c.818A>G (p.Lys273Arg)	ABCC6 (K159R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221471	NM_001171.6(ABCC6):c.788C>G (p.Ala263Gly)	ABCC6 (A149G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366461	NM_001171.6(ABCC6):c.779G>A (p.Arg260His)	ABCC6 (R146H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392367	NM_001171.6(ABCC6):c.698C>T (p.Pro233Leu)	ABCC6 (P233L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342684	NM_001171.6(ABCC6):c.607T>C (p.Cys203Arg)	ABCC6 (C89R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345617	NM_001171.6(ABCC6):c.392A>G (p.Gln131Arg)	ABCC6 (Q17R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2599188	NM_001171.6(ABCC6):c.314T>C (p.Leu105Pro)	ABCC6 (L105P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2598888	NM_001171.6(ABCC6):c.302C>G (p.Ala101Gly)	ABCC6 (A101G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2388256	NM_001171.6(ABCC6):c.301G>T (p.Ala101Ser)	ABCC6 (A101S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2335418	NM_001171.6(ABCC6):c.284A>G (p.Gln95Arg)	ABCC6 (Q95R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2327997	NM_001171.6(ABCC6):c.239T>C (p.Ile80Thr)	ABCC6 (I80T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2358863	NM_001171.6(ABCC6):c.167A>G (p.His56Arg)	ABCC6 (H56R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2404591	NM_001171.6(ABCC6):c.35G>A (p.Gly12Glu)	ABCC6 (G12E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 55