6605[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 1230941	NM_003079.5(SMARCE1):c.*110C>T	SMARCE1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 663421	NC_000017.10:g.(?_38785027)_(38804103_?)dup	SMARCE1	Duplication	Familial meningioma	GUncertain significance
Select item 1119878	NM_003079.5(SMARCE1):c.1236A>G (p.Ter412=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma +1 more	GLikely benign
Select item 1361349	NM_003079.5(SMARCE1):c.1234_1235insTTT (p.412Pheext1)	SMARCE1	Insertion (inframe_insertion)	Familial meningioma	GUncertain significance
Select item 532237	NM_003079.5(SMARCE1):c.1233A>G (p.Glu411=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 643758	NM_003079.5(SMARCE1):c.1231G>A (p.Glu411Lys)	SMARCE1 (E411K)	Single nucleotide variant (missense variant)	Familial meningioma +2 more	GConflicting classifications of pathogenicity
Select item 239489	NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter)	SMARCE1 (E411*)	Single nucleotide variant (nonsense)	Familial meningioma +3 more	GBenign/Likely benign
Select item 818644	NM_003079.5(SMARCE1):c.1227A>G (p.Lys409=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma +1 more	GLikely benign
Select item 1996019	NM_003079.5(SMARCE1):c.1226A>T (p.Lys409Ile)	SMARCE1 (K409I)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 818642	NM_003079.5(SMARCE1):c.1226A>G (p.Lys409Arg)	SMARCE1 (K409R)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GConflicting classifications of pathogenicity
Select item 573127	NM_003079.5(SMARCE1):c.1222G>A (p.Glu408Lys)	SMARCE1 (E408K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2781182	NM_003079.5(SMARCE1):c.1220A>T (p.Asp407Val)	SMARCE1 (D407V)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2626163	NM_003079.5(SMARCE1):c.1220A>G (p.Asp407Gly)	SMARCE1 (D407G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2888216	NM_003079.5(SMARCE1):c.1219G>T (p.Asp407Tyr)	SMARCE1 (D407Y)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1023064	NM_003079.5(SMARCE1):c.1219G>A (p.Asp407Asn)	SMARCE1 (D407N)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 940411	NM_003079.5(SMARCE1):c.1217A>C (p.Glu406Ala)	SMARCE1 (E406A)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1751304	NM_003079.5(SMARCE1):c.1215A>G (p.Pro405=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1751150	NM_003079.5(SMARCE1):c.1214C>T (p.Pro405Leu)	SMARCE1 (P405L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2882151	NM_003079.5(SMARCE1):c.1213C>T (p.Pro405Ser)	SMARCE1 (P405S)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 654067	NM_003079.5(SMARCE1):c.1213C>G (p.Pro405Ala)	SMARCE1 (P405A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 407074	NM_003079.5(SMARCE1):c.1212A>G (p.Ile404Met)	SMARCE1 (I404M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2693083	NM_003079.5(SMARCE1):c.1211T>A (p.Ile404Lys)	SMARCE1 (I404K)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1750539	NM_003079.5(SMARCE1):c.1211T>C (p.Ile404Thr)	SMARCE1 (I404T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 463421	NM_003079.5(SMARCE1):c.1210A>G (p.Ile404Val)	SMARCE1 (I404V)	Single nucleotide variant (missense variant)	Familial meningioma +2 more	GConflicting classifications of pathogenicity
Select item 532257	NM_003079.5(SMARCE1):c.1209C>T (p.Pro403=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma +1 more	GLikely benign
Select item 2564310	NM_003079.5(SMARCE1):c.1207C>G (p.Pro403Ala)	SMARCE1 (P403A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818589	NM_003079.5(SMARCE1):c.1204G>A (p.Asp402Asn)	SMARCE1 (D402N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1059115	NM_003079.5(SMARCE1):c.1202C>T (p.Thr401Ile)	SMARCE1 (T401I)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 1581820	NM_003079.5(SMARCE1):c.1200A>G (p.Pro400=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma	GLikely benign
Select item 1493306	NM_003079.5(SMARCE1):c.1198C>G (p.Pro400Ala)	SMARCE1 (P400A)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1418448	NM_003079.5(SMARCE1):c.1198C>T (p.Pro400Ser)	SMARCE1 (P400S)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GConflicting classifications of pathogenicity
Select item 1361984	NM_003079.5(SMARCE1):c.1196C>T (p.Pro399Leu)	SMARCE1 (P399L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 941456	NM_003079.5(SMARCE1):c.1195C>G (p.Pro399Ala)	SMARCE1 (P399A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1745044	NM_003079.5(SMARCE1):c.1191G>A (p.Glu397=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1744068	NM_003079.5(SMARCE1):c.1188G>A (p.Val396=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1743579	NM_003079.5(SMARCE1):c.1186G>A (p.Val396Met)	SMARCE1 (V396M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1303723	NM_003079.5(SMARCE1):c.1186G>C (p.Val396Leu)	SMARCE1 (V396L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1150724	NM_003079.5(SMARCE1):c.1185A>G (p.Thr395=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1742697	NM_003079.5(SMARCE1):c.1183A>G (p.Thr395Ala)	SMARCE1 (T395A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 647309	NM_003079.5(SMARCE1):c.1180G>A (p.Ala394Thr)	SMARCE1 (A394T)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GConflicting classifications of pathogenicity
Select item 2843261	NM_003079.5(SMARCE1):c.1179T>C (p.Ser393=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma	GLikely benign
Select item 962742	NM_003079.5(SMARCE1):c.1177A>G (p.Ser393Gly)	SMARCE1 (S393G)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1740742	NM_003079.5(SMARCE1):c.1176C>T (p.Asn392=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3012367	NM_003079.5(SMARCE1):c.1175A>G (p.Asn392Ser)	SMARCE1 (N392S)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1037713	NM_003079.5(SMARCE1):c.1174A>G (p.Asn392Asp)	SMARCE1 (N392D)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 486513	NM_003079.5(SMARCE1):c.1173C>T (p.Ser391=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma +2 more	GLikely benign
Select item 1414631	NM_003079.5(SMARCE1):c.1172G>A (p.Ser391Asn)	SMARCE1 (S391N)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 949118	NM_003079.5(SMARCE1):c.1172G>C (p.Ser391Thr)	SMARCE1 (S391T)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1063929	NM_003079.5(SMARCE1):c.1171A>G (p.Ser391Gly)	SMARCE1 (S391G)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 857697	NM_003079.5(SMARCE1):c.1170G>T (p.Glu390Asp)	SMARCE1 (E390D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 414265	NM_003079.5(SMARCE1):c.1167G>A (p.Ser389=)	SMARCE1	Single nucleotide variant (synonymous variant)	SMARCE1-related disorder +2 more	GLikely benign
Select item 1043383	NM_003079.5(SMARCE1):c.1166C>G (p.Ser389Trp)	SMARCE1 (S389W)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1011963	NM_003079.5(SMARCE1):c.1166C>T (p.Ser389Leu)	SMARCE1 (S389L)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1403668	NM_003079.5(SMARCE1):c.1165T>C (p.Ser389Pro)	SMARCE1 (S389P)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2727447	NM_003079.5(SMARCE1):c.1164C>A (p.Gly388=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma +1 more	GLikely benign
Select item 578097	NM_003079.5(SMARCE1):c.1164C>T (p.Gly388=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2428099	NM_003079.5(SMARCE1):c.1163G>A (p.Gly388Asp)	SMARCE1 (G388D)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2624546	NM_003079.5(SMARCE1):c.1160C>T (p.Thr387Ile)	SMARCE1 (T387I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1020430	NM_003079.5(SMARCE1):c.1159A>C (p.Thr387Pro)	SMARCE1 (T387P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 766677	NM_003079.5(SMARCE1):c.1158C>T (p.Asn386=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 532239	NM_003079.5(SMARCE1):c.1156A>G (p.Asn386Asp)	SMARCE1 (N386D)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 662686	NM_003079.5(SMARCE1):c.1155T>G (p.Ser385Arg)	SMARCE1 (S385R)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 699437	NM_003079.5(SMARCE1):c.1152T>C (p.Asp384=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1733409	NM_003079.5(SMARCE1):c.1149T>C (p.Ser383=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2750339	NM_003079.5(SMARCE1):c.1148G>C (p.Ser383Thr)	SMARCE1 (S383T)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 463420	NM_003079.5(SMARCE1):c.1148G>A (p.Ser383Asn)	SMARCE1 (S383N)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 2781575	NM_003079.5(SMARCE1):c.1147A>C (p.Ser383Arg)	SMARCE1 (S383R)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 822252	NM_003079.5(SMARCE1):c.1147A>G (p.Ser383Gly)	SMARCE1 (S383G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1158724	NM_003079.5(SMARCE1):c.1146C>T (p.Thr382=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma	GLikely benign
Select item 2419858	NM_003079.5(SMARCE1):c.1145C>G (p.Thr382Ser)	SMARCE1 (T382S)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1053109	NM_003079.5(SMARCE1):c.1145C>T (p.Thr382Ile)	SMARCE1 (T382I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 665300	NM_003079.5(SMARCE1):c.1144A>G (p.Thr382Ala)	SMARCE1 (T382A)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 463419	NM_003079.5(SMARCE1):c.1143A>C (p.Gly381=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma +1 more	GLikely benign
Select item 2733193	NM_003079.5(SMARCE1):c.1142G>A (p.Gly381Glu)	SMARCE1 (G381E)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 818407	NM_003079.5(SMARCE1):c.1135_1138del (p.Glu379fs)	SMARCE1 (E379fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 463418	NM_003079.5(SMARCE1):c.1133C>T (p.Ala378Val)	SMARCE1 (A378V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1988340	NM_003079.5(SMARCE1):c.1130T>C (p.Met377Thr)	SMARCE1 (M377T)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 565919	NM_003079.5(SMARCE1):c.1129A>G (p.Met377Val)	SMARCE1 (M377V)	Single nucleotide variant (missense variant)	Familial meningioma +2 more	GConflicting classifications of pathogenicity
Select item 1519009	NM_003079.5(SMARCE1):c.1126A>C (p.Ser376Arg)	SMARCE1 (S376R)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1008033	NM_003079.5(SMARCE1):c.1126A>G (p.Ser376Gly)	SMARCE1 (S376G)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1095941	NM_003079.5(SMARCE1):c.1125C>T (p.Asp375=)	SMARCE1	Single nucleotide variant (synonymous variant)	SMARCE1-related disorder +2 more	GLikely benign
Select item 641673	NM_003079.5(SMARCE1):c.1123G>A (p.Asp375Asn)	SMARCE1 (D375N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1538242	NM_003079.5(SMARCE1):c.1122C>G (p.Val374=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma	GLikely benign
Select item 239488	NM_003079.5(SMARCE1):c.1122C>T (p.Val374=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 818361	NM_003079.5(SMARCE1):c.1121T>C (p.Val374Ala)	SMARCE1 (V374A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2898006	NM_003079.5(SMARCE1):c.1120del (p.Val374fs)	SMARCE1 (V374fs)	Deletion (frameshift variant)	Familial meningioma	GUncertain significance
Select item 935630	NM_003079.5(SMARCE1):c.1120G>C (p.Val374Leu)	SMARCE1 (V374L)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1385743	NM_003079.5(SMARCE1):c.1117G>A (p.Gly373Arg)	SMARCE1 (G373R)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2833075	NM_003079.5(SMARCE1):c.1115A>G (p.Glu372Gly)	SMARCE1 (E372G)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1796128	NM_003079.5(SMARCE1):c.1115A>T (p.Glu372Val)	SMARCE1 (E372V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 855790	NM_003079.5(SMARCE1):c.1115A>C (p.Glu372Ala)	SMARCE1 (E372A)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 532254	NM_003079.5(SMARCE1):c.1110G>A (p.Gly370=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma +1 more	GLikely benign
Select item 1418444	NM_003079.5(SMARCE1):c.1109G>A (p.Gly370Glu)	SMARCE1 (G370E)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 969456	NM_003079.5(SMARCE1):c.1109G>T (p.Gly370Val)	SMARCE1 (G370V)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 1062373	NM_003079.5(SMARCE1):c.1108G>A (p.Gly370Arg)	SMARCE1 (G370R)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2564308	NM_003079.5(SMARCE1):c.1106G>A (p.Ser369Asn)	SMARCE1 (S369N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2128299	NM_003079.5(SMARCE1):c.1106G>C (p.Ser369Thr)	SMARCE1 (S369T)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance

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