"Baylor Genetics"[submitter] AND "SMARCE1"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1743579	NM_003079.5(SMARCE1):c.1186G>A (p.Val396Met)	SMARCE1 (V396M)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GConflicting classifications of pathogenicity
Select item 647309	NM_003079.5(SMARCE1):c.1180G>A (p.Ala394Thr)	SMARCE1 (A394T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 962742	NM_003079.5(SMARCE1):c.1177A>G (p.Ser393Gly)	SMARCE1 (S393G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	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 1020430	NM_003079.5(SMARCE1):c.1159A>C (p.Thr387Pro)	SMARCE1 (T387P)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 463420	NM_003079.5(SMARCE1):c.1148G>A (p.Ser383Asn)	SMARCE1 (S383N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 565919	NM_003079.5(SMARCE1):c.1129A>G (p.Met377Val)	SMARCE1 (M377V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 641673	NM_003079.5(SMARCE1):c.1123G>A (p.Asp375Asn)	SMARCE1 (D375N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 407068	NM_003079.5(SMARCE1):c.1095G>C (p.Glu365Asp)	SMARCE1 (E365D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1956180	NM_003079.5(SMARCE1):c.1088C>T (p.Thr363Ile)	SMARCE1 (T363I)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 463412	NM_003079.5(SMARCE1):c.1082C>T (p.Thr361Met)	SMARCE1 (T361M)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 818347	NM_003079.5(SMARCE1):c.1078G>C (p.Gly360Arg)	SMARCE1 (G360R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 407076	NM_003079.5(SMARCE1):c.1073AAG[1] (p.Glu359del)	SMARCE1 (E359del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2679027	NM_003079.5(SMARCE1):c.1075G>T (p.Glu359Ter)	SMARCE1 (E359*)	Single nucleotide variant (nonsense)	Familial meningioma	GUncertain significance
Select item 1410751	NM_003079.5(SMARCE1):c.1070G>A (p.Gly357Asp)	SMARCE1 (G357D)	Single nucleotide variant (missense variant)	Familial meningioma +2 more	GConflicting classifications of pathogenicity
Select item 532249	NM_003079.5(SMARCE1):c.1067A>G (p.Asn356Ser)	SMARCE1 (N356S)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GConflicting classifications of pathogenicity
Select item 2679023	NM_003079.5(SMARCE1):c.1054G>C (p.Glu352Gln)	SMARCE1 (E352Q)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 851003	NM_003079.5(SMARCE1):c.1042G>A (p.Glu348Lys)	SMARCE1 (E348K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1029667	NM_003079.5(SMARCE1):c.1036C>A (p.His346Asn)	SMARCE1 (H346N)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 5 +1 more	GUncertain significance
Select item 661588	NM_003079.5(SMARCE1):c.1033A>C (p.Thr345Pro)	SMARCE1 (T345P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 857521	NM_003079.5(SMARCE1):c.1009A>T (p.Asn337Tyr)	SMARCE1 (N337Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 567118	NM_003079.5(SMARCE1):c.988G>A (p.Glu330Lys)	SMARCE1 (E330K)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GConflicting classifications of pathogenicity
Select item 972534	NM_003079.5(SMARCE1):c.961G>A (p.Glu321Lys)	SMARCE1 (E321K)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GConflicting classifications of pathogenicity
Select item 463440	NM_003079.5(SMARCE1):c.958C>T (p.Pro320Ser)	SMARCE1 (P320S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 580206	NM_003079.5(SMARCE1):c.947G>A (p.Ser316Asn)	SMARCE1 (S316N)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GConflicting classifications of pathogenicity
Select item 1395678	NM_003079.5(SMARCE1):c.944A>G (p.Gln315Arg)	SMARCE1 (Q315R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 662402	NM_003079.5(SMARCE1):c.943C>G (p.Gln315Glu)	SMARCE1 (Q315E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1351275	NM_003079.5(SMARCE1):c.938G>T (p.Arg313Leu)	SMARCE1 (R313L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 463438	NM_003079.5(SMARCE1):c.938G>A (p.Arg313His)	SMARCE1 (R313H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 653959	NM_003079.5(SMARCE1):c.937C>T (p.Arg313Cys)	SMARCE1 (R313C)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GConflicting classifications of pathogenicity
Select item 532236	NM_003079.5(SMARCE1):c.932C>T (p.Ala311Val)	SMARCE1 (A311V)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 407075	NM_003079.5(SMARCE1):c.922G>A (p.Ala308Thr)	SMARCE1 (A308T)	Single nucleotide variant (missense variant)	Familial meningioma +2 more	GConflicting classifications of pathogenicity
Select item 1405872	NM_003079.5(SMARCE1):c.913_915del (p.Lys305del)	SMARCE1 (K305del)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 841800	NM_003079.5(SMARCE1):c.893A>G (p.Lys298Arg)	SMARCE1 (K298R)	Single nucleotide variant (missense variant)	Familial meningioma +2 more	GConflicting classifications of pathogenicity
Select item 652983	NM_003079.5(SMARCE1):c.889C>T (p.Arg297Cys)	SMARCE1 (R297C)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GConflicting classifications of pathogenicity
Select item 463437	NM_003079.5(SMARCE1):c.868G>A (p.Ala290Thr)	SMARCE1 (A290T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 532246	NM_003079.5(SMARCE1):c.823G>A (p.Gly275Ser)	SMARCE1 (G275S)	Single nucleotide variant (missense variant)	Familial meningioma +2 more	GConflicting classifications of pathogenicity
Select item 407070	NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg)	SMARCE1 (K256R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3033807	NM_003079.5(SMARCE1):c.748G>A (p.Glu250Lys)	SMARCE1 (E250K)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2679024	NM_003079.5(SMARCE1):c.665C>G (p.Ala222Gly)	SMARCE1 (A222G)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 825856	NM_003079.5(SMARCE1):c.562A>G (p.Met188Val)	SMARCE1 (M188V)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 857499	NM_003079.5(SMARCE1):c.506C>T (p.Pro169Leu)	SMARCE1 (P169L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 486509	NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr)	SMARCE1 (A138T)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GConflicting classifications of pathogenicity
Select item 532241	NM_003079.5(SMARCE1):c.369G>A (p.Lys123=)	SMARCE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1058881	NM_003079.5(SMARCE1):c.330A>C (p.Glu110Asp)	SMARCE1 (E110D)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 559876	NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn)	SMARCE1 (K92N)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 5	GLikely pathogenic
Select item 1422437	NM_003079.5(SMARCE1):c.238-15T>A	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GUncertain significance
Select item 1480048	NM_003079.5(SMARCE1):c.175A>T (p.Ile59Phe)	SMARCE1 (I59F)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 2679026	NM_003079.5(SMARCE1):c.151G>T (p.Val51Phe)	SMARCE1 (V51F)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1459773	NM_003079.5(SMARCE1):c.92del (p.Tyr31fs)	SMARCE1 (Y31fs)	Deletion (frameshift variant)	Familial meningioma	GPathogenic/Likely pathogenic

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Items: 52