ClinVar for Gene (Select 23461) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366874	NM_172232.4(ABCA5):c.3020C>T (p.Pro1007Leu)	ABCA5 (P1007L)	Single nucleotide variant (missense variant)	Gingival fibromatosis-hypertrichosis syndrome	GUncertain significance
Select item 3283718	NM_172232.4(ABCA5):c.3398C>T (p.Thr1133Ile)	ABCA5 (T1133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283644	NM_172232.4(ABCA5):c.2134A>G (p.Met712Val)	ABCA5 (M712V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283549	NM_172232.4(ABCA5):c.1772T>A (p.Ile591Lys)	ABCA5 (I591K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283446	NM_172232.4(ABCA5):c.1071G>C (p.Trp357Cys)	ABCA5 (W357C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283348	NM_172232.4(ABCA5):c.2926A>G (p.Met976Val)	ABCA5 (M976V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283243	NM_172232.4(ABCA5):c.2848G>A (p.Val950Met)	ABCA5 (V950M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283153	NM_172232.4(ABCA5):c.13A>G (p.Ile5Val)	ABCA5 (I5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283056	NM_172232.4(ABCA5):c.1787A>G (p.Gln596Arg)	ABCA5 (Q596R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282958	NM_172232.4(ABCA5):c.2992A>G (p.Thr998Ala)	ABCA5 (T998A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282866	NM_172232.4(ABCA5):c.3434C>T (p.Ala1145Val)	ABCA5 (A1145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106152	NM_172232.4(ABCA5):c.859G>C (p.Ala287Pro)	ABCA5 (A287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106114	NM_172232.4(ABCA5):c.83C>G (p.Thr28Ser)	ABCA5 (T28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106045	NM_172232.4(ABCA5):c.799G>A (p.Val267Ile)	ABCA5 (V267I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105949	NM_172232.4(ABCA5):c.667A>G (p.Ile223Val)	ABCA5 (I223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105871	NM_172232.4(ABCA5):c.599C>T (p.Thr200Ile)	ABCA5 (T200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105712	NM_172232.4(ABCA5):c.4777T>A (p.Phe1593Ile)	ABCA5 (F1593I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105656	NM_172232.4(ABCA5):c.4675C>T (p.Arg1559Cys)	ABCA5 (R1559C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105484	NM_172232.4(ABCA5):c.4571T>C (p.Phe1524Ser)	ABCA5 (F1524S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105416	NM_172232.4(ABCA5):c.4529A>G (p.Gln1510Arg)	ABCA5 (Q1510R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105391	NM_172232.4(ABCA5):c.4432G>T (p.Ala1478Ser)	ABCA5 (A1478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105114	NM_172232.4(ABCA5):c.3965G>T (p.Cys1322Phe)	ABCA5 (C1322F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105085	NM_172232.4(ABCA5):c.3778G>T (p.Asp1260Tyr)	ABCA5 (D1260Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105000	NM_172232.4(ABCA5):c.3375C>A (p.Phe1125Leu)	ABCA5 (F1125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104918	NM_172232.4(ABCA5):c.3287A>G (p.Tyr1096Cys)	ABCA5 (Y1096C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104831	NM_172232.4(ABCA5):c.3272T>C (p.Phe1091Ser)	ABCA5 (F1091S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104806	NM_172232.4(ABCA5):c.3251T>A (p.Met1084Lys)	ABCA5 (M1084K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104602	NM_172232.4(ABCA5):c.3002T>C (p.Ile1001Thr)	ABCA5 (I1001T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104406	NM_172232.4(ABCA5):c.2542G>A (p.Ala848Thr)	ABCA5 (A848T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104324	NM_172232.4(ABCA5):c.2384A>T (p.Asp795Val)	ABCA5 (D795V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104245	NM_172232.4(ABCA5):c.2125C>T (p.Arg709Cys)	ABCA5 (R709C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104230	NM_172232.4(ABCA5):c.2045G>A (p.Arg682Lys)	ABCA5 (R682K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104074	NM_172232.4(ABCA5):c.1921C>G (p.Pro641Ala)	ABCA5 (P641A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103717	NM_172232.4(ABCA5):c.1620A>G (p.Ile540Met)	ABCA5 (I540M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103506	NM_172232.4(ABCA5):c.1456A>G (p.Thr486Ala)	ABCA5 (T486A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103430	NM_172232.4(ABCA5):c.135G>T (p.Trp45Cys)	ABCA5 (W45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103335	NM_172232.4(ABCA5):c.1229A>G (p.Tyr410Cys)	ABCA5 (Y410C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103290	NM_172232.4(ABCA5):c.1067T>A (p.Val356Glu)	ABCA5 (V356E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103248	NM_172232.4(ABCA5):c.1050T>G (p.Ser350Arg)	ABCA5 (S350R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065938	NM_172232.4(ABCA5):c.4315C>T (p.Arg1439Ter)	ABCA5 (R1439*)	Single nucleotide variant (nonsense)	Gingival fibromatosis-hypertrichosis syndrome	GLikely pathogenic
Select item 3065858	NM_172232.4(ABCA5):c.1632_1633del (p.Arg544fs)	ABCA5 (R544fs)	Microsatellite (frameshift variant)	Gingival fibromatosis-hypertrichosis syndrome	GLikely pathogenic
Select item 3060710	NM_172232.4(ABCA5):c.3859-4T>C	ABCA5	Single nucleotide variant (intron variant)	ABCA5-related disorder	GBenign
Select item 3060219	NM_172232.4(ABCA5):c.3265T>C (p.Leu1089=)	ABCA5	Single nucleotide variant (synonymous variant)	ABCA5-related disorder	GBenign
Select item 3059440	NM_172232.4(ABCA5):c.1451A>G (p.Gln484Arg)	ABCA5 (Q484R)	Single nucleotide variant (missense variant)	ABCA5-related disorder	GBenign
Select item 3059410	NM_172232.4(ABCA5):c.532G>A (p.Ala178Thr)	ABCA5 (A178T)	Single nucleotide variant (missense variant)	ABCA5-related disorder	GBenign
Select item 3057014	NM_172232.4(ABCA5):c.3393A>G (p.Leu1131=)	ABCA5	Single nucleotide variant (synonymous variant)	ABCA5-related disorder	GBenign
Select item 3056659	NM_172232.4(ABCA5):c.3549G>A (p.Leu1183=)	ABCA5	Single nucleotide variant (synonymous variant)	ABCA5-related disorder	GBenign
Select item 3052699	NM_172232.4(ABCA5):c.4332T>G (p.Ala1444=)	ABCA5	Single nucleotide variant (synonymous variant)	ABCA5-related disorder	GLikely benign
Select item 3050740	NM_172232.4(ABCA5):c.48A>G (p.Thr16=)	ABCA5	Single nucleotide variant (synonymous variant)	ABCA5-related disorder	GLikely benign
Select item 3049666	NM_172232.4(ABCA5):c.2337G>A (p.Thr779=)	ABCA5	Single nucleotide variant (synonymous variant)	ABCA5-related disorder	GLikely benign
Select item 3047459	NM_172232.4(ABCA5):c.1663A>C (p.Arg555=)	ABCA5	Single nucleotide variant (synonymous variant)	ABCA5-related disorder	GLikely benign
Select item 3045703	NM_172232.4(ABCA5):c.2595-9del	ABCA5	Deletion (intron variant)	ABCA5-related disorder	GLikely benign
Select item 3044969	NM_172232.4(ABCA5):c.788+8A>C	ABCA5	Single nucleotide variant (intron variant)	ABCA5-related disorder	GLikely benign
Select item 3042879	NM_172232.4(ABCA5):c.4521G>A (p.Val1507=)	ABCA5	Single nucleotide variant (synonymous variant)	ABCA5-related disorder	GLikely benign
Select item 3042353	NM_172232.4(ABCA5):c.3144+4dup	ABCA5	Duplication (intron variant)	not provided	GLikely benign
Select item 3041283	NM_172232.4(ABCA5):c.3743C>T (p.Thr1248Met)	ABCA5 (T1248M)	Single nucleotide variant (missense variant)	ABCA5-related disorder	GLikely benign
Select item 3037281	NM_172232.4(ABCA5):c.4415+3G>A	ABCA5	Single nucleotide variant (intron variant)	ABCA5-related disorder	GLikely benign
Select item 2648168	NM_172232.4(ABCA5):c.309C>T (p.Val103=)	ABCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611840	NM_172232.4(ABCA5):c.508T>G (p.Ser170Ala)	ABCA5 (S170A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604638	NM_172232.4(ABCA5):c.1824A>T (p.Lys608Asn)	ABCA5 (K608N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603194	NM_172232.4(ABCA5):c.3707C>T (p.Ser1236Leu)	ABCA5 (S1236L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602324	NM_172232.4(ABCA5):c.434T>C (p.Met145Thr)	ABCA5 (M145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594897	NM_172232.4(ABCA5):c.442G>A (p.Val148Ile)	ABCA5 (V148I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594187	NM_172232.4(ABCA5):c.4258C>T (p.Leu1420Phe)	ABCA5 (L1420F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590873	NM_172232.4(ABCA5):c.269G>A (p.Ser90Asn)	ABCA5 (S90N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556675	NM_172232.4(ABCA5):c.743T>A (p.Ile248Lys)	ABCA5 (I248K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544628	NM_172232.4(ABCA5):c.1747A>G (p.Ile583Val)	ABCA5 (I583V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544251	NM_172232.4(ABCA5):c.1936G>T (p.Asp646Tyr)	ABCA5 (D646Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538793	NM_172232.4(ABCA5):c.1946C>T (p.Ser649Phe)	ABCA5 (S649F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533078	NM_172232.4(ABCA5):c.2802C>G (p.Ser934Arg)	ABCA5 (S934R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531271	NM_172232.4(ABCA5):c.1512A>G (p.Ile504Met)	ABCA5 (I504M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529620	NM_172232.4(ABCA5):c.2782C>G (p.Leu928Val)	ABCA5 (L928V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527437	NM_172232.4(ABCA5):c.1231G>A (p.Val411Ile)	ABCA5 (V411I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521297	NM_172232.4(ABCA5):c.1513T>C (p.Tyr505His)	ABCA5 (Y505H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520064	NM_172232.4(ABCA5):c.293A>G (p.Asp98Gly)	ABCA5 (D98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516497	NM_172232.4(ABCA5):c.1151C>G (p.Ala384Gly)	ABCA5 (A384G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512970	NM_172232.4(ABCA5):c.2509A>G (p.Met837Val)	ABCA5 (M837V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510006	NM_172232.4(ABCA5):c.4760A>G (p.Glu1587Gly)	ABCA5 (E1587G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495195	NM_172232.4(ABCA5):c.4589T>C (p.Leu1530Ser)	ABCA5 (L1530S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491092	NM_172232.4(ABCA5):c.1343A>G (p.Glu448Gly)	ABCA5 (E448G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478559	NM_172232.4(ABCA5):c.4901G>C (p.Arg1634Pro)	ABCA5 (R1634P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474743	NM_172232.4(ABCA5):c.601A>G (p.Lys201Glu)	ABCA5 (K201E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466424	NM_172232.4(ABCA5):c.3500A>G (p.His1167Arg)	ABCA5 (H1167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461861	NM_172232.4(ABCA5):c.4234G>C (p.Val1412Leu)	ABCA5 (V1412L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445995	NM_172232.4(ABCA5):c.2569C>T (p.Arg857Cys)	ABCA5 (R857C)	Single nucleotide variant (missense variant)	Gingival fibromatosis-hypertrichosis syndrome	GLikely pathogenic
Select item 2393145	NM_172232.4(ABCA5):c.170A>C (p.Lys57Thr)	ABCA5 (K57T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388983	NM_172232.4(ABCA5):c.4007G>A (p.Gly1336Asp)	ABCA5 (G1336D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387310	NM_172232.4(ABCA5):c.1784T>C (p.Val595Ala)	ABCA5 (V595A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384431	NM_172232.4(ABCA5):c.3091A>G (p.Ile1031Val)	ABCA5 (I1031V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381860	NM_172232.4(ABCA5):c.2819C>T (p.Thr940Met)	ABCA5 (T940M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381003	NM_172232.4(ABCA5):c.2038G>T (p.Ala680Ser)	ABCA5 (A680S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370988	NM_172232.4(ABCA5):c.4783A>G (p.Ile1595Val)	ABCA5 (I1595V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358410	NM_172232.4(ABCA5):c.1309C>G (p.Pro437Ala)	ABCA5 (P437A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356042	NM_172232.4(ABCA5):c.4663C>T (p.Pro1555Ser)	ABCA5 (P1555S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345631	NM_172232.4(ABCA5):c.4633C>T (p.Arg1545Cys)	ABCA5 (R1545C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343568	NM_172232.4(ABCA5):c.3274C>A (p.His1092Asn)	ABCA5 (H1092N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332736	NM_172232.4(ABCA5):c.3170T>G (p.Leu1057Arg)	ABCA5 (L1057R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332052	NM_172232.4(ABCA5):c.3123G>A (p.Met1041Ile)	ABCA5 (M1041I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327758	NM_172232.4(ABCA5):c.767G>T (p.Gly256Val)	ABCA5 (G256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321047	NM_172232.4(ABCA5):c.4381A>G (p.Thr1461Ala)	ABCA5 (T1461A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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