ACBD5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 150697	GRCh38/hg38 10p12.1-11.23(chr10:26823016-30248926)x1	ABI1, ACBD5 +101 more	Copy number loss	See cases	GPathogenic
Select item 58719	GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1	ACBD5, ANKRD26 +90 more	Copy number loss	See cases	GPathogenic
Select item 879054	NM_001172303.3(MASTL):c.1828G>A (p.Val610Ile)	ACBD5, MASTL (V610I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1235648	NM_001172303.3(MASTL):c.2483-298C>T	ACBD5, MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262121	NM_001172303.3(MASTL):c.2483-33T>C	ACBD5, MASTL	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 299801	NM_001172303.3(MASTL):c.2517C>T (p.Asp839=)	ACBD5, MASTL	Single nucleotide variant (synonymous variant +2 more)	Thrombocytopenia	GUncertain significance
Select item 1803273	NM_001172303.3(MASTL):c.2519G>A (p.Trp840Ter)	ACBD5, MASTL (W679* +6 more)	Single nucleotide variant (nonsense +2 more)	Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities	GUncertain significance
Select item 877489	NM_001172303.3(MASTL):c.2521G>A (p.Glu841Lys)	ACBD5, MASTL (E802K +6 more)	Single nucleotide variant (missense variant +2 more)	Thrombocytopenia	GUncertain significance
Select item 299802	NM_001172303.3(MASTL):c.2526T>C (p.Asn842=)	ACBD5, MASTL	Single nucleotide variant (synonymous variant +2 more)	Thrombocytopenia	GUncertain significance
Select item 2304670	NM_001172303.3(MASTL):c.2618C>A (p.Thr873Asn)	ACBD5, MASTL (T877N +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 262122	NM_001172303.3(MASTL):c.2619T>C (p.Thr873=)	ACBD5, MASTL	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 786822	NM_001172303.3(MASTL):c.2620G>A (p.Val874Ile)	ACBD5, MASTL (V874I +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 2630321	NM_001172303.3(MASTL):c.2629T>C (p.Phe877Leu)	ACBD5, MASTL (F716L +6 more)	Single nucleotide variant (missense variant +2 more)	MASTL-related disorder	GUncertain significance
Select item 262110	NM_001172303.3(MASTL):c.*29T>C	ACBD5, MASTL	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 878515	NM_001172303.3(MASTL):c.*51T>A	ACBD5, MASTL	Single nucleotide variant (3 prime UTR variant +2 more)	Thrombocytopenia	GLikely benign
Select item 878516	NM_001172303.3(MASTL):c.*60A>T	ACBD5, MASTL	Single nucleotide variant (3 prime UTR variant +2 more)	Thrombocytopenia	GBenign
Select item 299803	NM_001172303.3(MASTL):c.*114A>G	ACBD5, MASTL	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 299804	NM_001172303.3(MASTL):c.*132G>A	ACBD5, MASTL	Single nucleotide variant (3 prime UTR variant +2 more)	Thrombocytopenia	GBenign
Select item 299805	NM_001172303.3(MASTL):c.*203T>A	ACBD5, MASTL	Single nucleotide variant (3 prime UTR variant +2 more)	Thrombocytopenia	GUncertain significance
Select item 299806	NM_001172303.3(MASTL):c.*228T>C	ACBD5, MASTL	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 299807	NM_001172303.3(MASTL):c.*252T>C	ACBD5, MASTL	Single nucleotide variant (3 prime UTR variant +2 more)	Thrombocytopenia	GUncertain significance
Select item 1263273	NM_145698.5(ACBD5):c.*80dup	ACBD5	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1668608	NM_145698.5(ACBD5):c.1575C>T (p.Asn525=)	ACBD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1929943	NM_145698.5(ACBD5):c.1570C>T (p.Leu524=)	ACBD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1164241	NM_145698.5(ACBD5):c.1566-16del	ACBD5	Deletion (intron variant)	not provided	GBenign
Select item 1232993	NM_145698.5(ACBD5):c.1566-187G>C	ACBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181663	NM_145698.5(ACBD5):c.1566-297G>A	ACBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251115	NM_145698.5(ACBD5):c.1566-298C>T	ACBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223933	NM_145698.5(ACBD5):c.1565+208T>C	ACBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278436	NM_145698.5(ACBD5):c.1565+165T>C	ACBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1548591	NM_145698.5(ACBD5):c.1565+8C>T	ACBD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1595637	NM_145698.5(ACBD5):c.1565+7C>G	ACBD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2438826	NM_145698.5(ACBD5):c.1565+2T>A	ACBD5	Single nucleotide variant (splice donor variant)	Retinal dystrophy with leukodystrophy	GUncertain significance
Select item 2123692	NM_145698.5(ACBD5):c.1536_1537insAGG (p.Leu512_Val513insArg)	ACBD5	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1520937	NM_145698.5(ACBD5):c.1537G>A (p.Val513Met)	ACBD5 (V415M +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037279	NM_145698.5(ACBD5):c.1525G>T (p.Ala509Ser)	ACBD5 (A406S +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023818	NM_145698.5(ACBD5):c.1515G>A (p.Trp505Ter)	ACBD5 (W435* +17 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2336595	NM_145698.5(ACBD5):c.1510A>C (p.Ile504Leu)	ACBD5 (I395L +17 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1096314	NM_145698.5(ACBD5):c.1507A>G (p.Ile503Val)	ACBD5 (I326V +17 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1516065	NM_145698.5(ACBD5):c.1502_1503insCGT (p.Phe501_Ala502insVal)	ACBD5	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1093176	NM_145698.5(ACBD5):c.1500G>A (p.Thr500=)	ACBD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1500645	NM_145698.5(ACBD5):c.1499C>T (p.Thr500Met)	ACBD5 (T397M +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930390	NM_145698.5(ACBD5):c.1496T>C (p.Leu499Pro)	ACBD5 (L429P +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1564632	NM_145698.5(ACBD5):c.1488T>C (p.Pro496=)	ACBD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1479418	NM_145698.5(ACBD5):c.1483T>C (p.Ser495Pro)	ACBD5 (S392P +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 939196	NM_145698.5(ACBD5):c.1477G>A (p.Glu493Lys)	ACBD5 (E316K +17 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1897628	NM_145698.5(ACBD5):c.1472C>T (p.Pro491Leu)	ACBD5 (P314L +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462657	NM_145698.5(ACBD5):c.1471C>T (p.Pro491Ser)	ACBD5 (P423S +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620428	NM_145698.5(ACBD5):c.1467G>A (p.Trp489Ter)	ACBD5 (W489* +17 more)	Single nucleotide variant (nonsense)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 1002515	NM_145698.5(ACBD5):c.1456A>G (p.Arg486Gly)	ACBD5 (R309G +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041474	NM_145698.5(ACBD5):c.1456-12G>A	ACBD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1580161	NM_145698.5(ACBD5):c.1456-15A>G	ACBD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232236	NM_145698.5(ACBD5):c.1456-170C>T	ACBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273502	NM_145698.5(ACBD5):c.1456-214A>C	ACBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267172	NM_145698.5(ACBD5):c.1456-303C>T	ACBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2955898	NM_145698.5(ACBD5):c.1455+20del	ACBD5	Deletion (intron variant)	not provided	GBenign
Select item 2813295	NM_145698.5(ACBD5):c.1455+19A>C	ACBD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914021	NM_145698.5(ACBD5):c.1455+15A>T	ACBD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637688	NM_145698.5(ACBD5):c.1455+14T>A	ACBD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663883	NM_145698.5(ACBD5):c.1452A>C (p.Ser484=)	ACBD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 560425	NM_145698.5(ACBD5):c.1446del (p.Thr483fs)	ACBD5 (T306fs +17 more)	Deletion (frameshift variant)	Cone-rod dystrophy	GUncertain significance
Select item 953500	NM_145698.5(ACBD5):c.1436C>T (p.Ala479Val)	ACBD5 (A376V +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1016426	NM_145698.5(ACBD5):c.1435G>T (p.Ala479Ser)	ACBD5 (A302S +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921024	NM_145698.5(ACBD5):c.1429C>A (p.Gln477Lys)	ACBD5 (Q300K +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 856496	NM_145698.5(ACBD5):c.1427T>C (p.Leu476Ser)	ACBD5 (L378S +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484547	NM_145698.5(ACBD5):c.1426T>A (p.Leu476Met)	ACBD5 (L299M +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640816	NM_145698.5(ACBD5):c.1425A>T (p.Thr475=)	ACBD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011683	NM_145698.5(ACBD5):c.1419A>G (p.Thr473=)	ACBD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1108260	NM_145698.5(ACBD5):c.1413A>G (p.Ser471=)	ACBD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466927	NM_145698.5(ACBD5):c.1411T>G (p.Ser471Ala)	ACBD5 (S294A +17 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1910726	NM_145698.5(ACBD5):c.1405-2A>C	ACBD5	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1912812	NM_145698.5(ACBD5):c.1405-3C>T	ACBD5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1653688	NM_145698.5(ACBD5):c.1405-19C>T	ACBD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276270	NM_145698.5(ACBD5):c.1404+222C>G	ACBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282909	NM_145698.5(ACBD5):c.1404+101G>A	ACBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1606592	NM_145698.5(ACBD5):c.1404+13A>T	ACBD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1017374	NM_145698.5(ACBD5):c.1397C>T (p.Ala466Val)	ACBD5 (A289V +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001958	NM_145698.5(ACBD5):c.1392G>T (p.Leu464=)	ACBD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1461623	NM_145698.5(ACBD5):c.1391T>C (p.Leu464Pro)	ACBD5 (L396P +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959656	NM_145698.5(ACBD5):c.1389G>A (p.Thr463=)	ACBD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1169830	NM_145698.5(ACBD5):c.1388C>T (p.Thr463Met)	ACBD5 (T286M +17 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2135556	NM_145698.5(ACBD5):c.1374G>A (p.Leu458=)	ACBD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1016738	NM_145698.5(ACBD5):c.1356G>C (p.Gln452His)	ACBD5 (Q275H +17 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2115890	NM_145698.5(ACBD5):c.1353G>A (p.Met451Ile)	ACBD5 (M274I +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075565	NM_145698.5(ACBD5):c.1351A>G (p.Met451Val)	ACBD5 (M381V +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379908	NM_145698.5(ACBD5):c.1335G>C (p.Met445Ile)	ACBD5 (M347I +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714269	NM_145698.5(ACBD5):c.1334T>C (p.Met445Thr)	ACBD5 (M268T +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041064	NM_145698.5(ACBD5):c.1327G>A (p.Val443Met)	ACBD5 (V386M +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1616872	NM_145698.5(ACBD5):c.1326C>T (p.Leu442=)	ACBD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1008551	NM_145698.5(ACBD5):c.1321G>A (p.Ala441Thr)	ACBD5 (A264T +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1143641	NM_145698.5(ACBD5):c.1320C>T (p.Ile440=)	ACBD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962506	NM_145698.5(ACBD5):c.1301G>A (p.Gly434Asp)	ACBD5 (G432D +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384294	NM_145698.5(ACBD5):c.1300G>C (p.Gly434Arg)	ACBD5 (G325R +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116112	NM_145698.5(ACBD5):c.1297C>G (p.Arg433Gly)	ACBD5 (R376G +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298477	NM_145698.5(ACBD5):c.1297C>T (p.Arg433Ter)	ACBD5 (R256* +17 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 854374	NM_145698.5(ACBD5):c.1285G>A (p.Asp429Asn)	ACBD5 (D252N +17 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1099144	NM_145698.5(ACBD5):c.1284C>T (p.Ser428=)	ACBD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360658	NM_145698.5(ACBD5):c.1279G>A (p.Gly427Ser)	ACBD5 (G357S +17 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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