ClinVar for Gene (Select 6605) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375606	NM_003079.5(SMARCE1):c.1153A>G (p.Ser385Gly)	SMARCE1 (S385G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369973	NM_003079.5(SMARCE1):c.1010A>C (p.Asn337Thr)	SMARCE1 (N337T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364381	NM_003079.5(SMARCE1):c.841G>A (p.Asp281Asn)	SMARCE1 (D281N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361258	NM_003079.5(SMARCE1):c.7+1G>A	SMARCE1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3320868	NM_003079.5(SMARCE1):c.370del (p.Lys123_Ile124insTer)	SMARCE1	Deletion (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3320867	NM_003079.5(SMARCE1):c.1067A>C (p.Asn356Thr)	SMARCE1 (N356T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3320866	NM_003079.5(SMARCE1):c.989A>G (p.Glu330Gly)	SMARCE1 (E330G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3320865	NM_003079.5(SMARCE1):c.219C>T (p.Tyr73=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3320864	NM_003079.5(SMARCE1):c.768G>A (p.Lys256=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3320863	NM_003079.5(SMARCE1):c.68C>A (p.Pro23Gln)	SMARCE1 (P23Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3320859	NM_003079.5(SMARCE1):c.632_633dup (p.Val212fs)	SMARCE1 (V212fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3320858	NM_003079.5(SMARCE1):c.206C>A (p.Pro69Gln)	SMARCE1 (P69Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3320857	NM_003079.5(SMARCE1):c.979A>G (p.Asn327Asp)	SMARCE1 (N327D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3320856	NM_003079.5(SMARCE1):c.439dup (p.Ser147fs)	SMARCE1 (S147fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3320855	NM_003079.5(SMARCE1):c.654T>A (p.Val218=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3320853	NM_003079.5(SMARCE1):c.971A>G (p.Gln324Arg)	SMARCE1 (Q324R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3320852	NM_003079.5(SMARCE1):c.258T>G (p.Ala86=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3320851	NM_003079.5(SMARCE1):c.922del (p.Ala308fs)	SMARCE1 (A308fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3320850	NM_003079.5(SMARCE1):c.1141G>A (p.Gly381Arg)	SMARCE1 (G381R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3320849	NM_003079.5(SMARCE1):c.1136A>G (p.Glu379Gly)	SMARCE1 (E379G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3320848	NM_003079.5(SMARCE1):c.406T>C (p.Ser136Pro)	SMARCE1 (S136P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3320846	NM_003079.5(SMARCE1):c.1015C>T (p.Pro339Ser)	SMARCE1 (P339S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3320845	NM_003079.5(SMARCE1):c.662C>T (p.Thr221Ile)	SMARCE1 (T221I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3320843	NM_003079.5(SMARCE1):c.1087A>T (p.Thr363Ser)	SMARCE1 (T363S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3243032	NC_000017.10:g.(?_38787824)_(38787965_?)del	SMARCE1	Deletion	Familial meningioma	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3223104	NM_003079.5(SMARCE1):c.993G>T (p.Glu331Asp)	SMARCE1 (E331D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223103	NM_003079.5(SMARCE1):c.899A>C (p.Gln300Pro)	SMARCE1 (Q300P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223102	NM_003079.5(SMARCE1):c.896G>A (p.Arg299Lys)	SMARCE1 (R299K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223101	NM_003079.5(SMARCE1):c.770G>A (p.Arg257Lys)	SMARCE1 (R257K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223100	NM_003079.5(SMARCE1):c.747G>A (p.Glu249=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223099	NM_003079.5(SMARCE1):c.572C>A (p.Thr191Lys)	SMARCE1 (T191K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223098	NM_003079.5(SMARCE1):c.457T>C (p.Leu153=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223097	NM_003079.5(SMARCE1):c.370-3C>T	SMARCE1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223096	NM_003079.5(SMARCE1):c.341A>T (p.Glu114Val)	SMARCE1 (E114V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223095	NM_003079.5(SMARCE1):c.322A>G (p.Thr108Ala)	SMARCE1 (T108A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223094	NM_003079.5(SMARCE1):c.275dup (p.Leu93fs)	SMARCE1 (L93fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3223093	NM_003079.5(SMARCE1):c.189A>G (p.Pro63=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223092	NM_003079.5(SMARCE1):c.1017G>C (p.Pro339=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 3022692	NM_003079.5(SMARCE1):c.52-3C>T	SMARCE1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3021403	NM_003079.5(SMARCE1):c.473G>T (p.Arg158Leu)	SMARCE1 (R158L)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 3017354	NM_003079.5(SMARCE1):c.743T>C (p.Ile248Thr)	SMARCE1 (I248T)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
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 2989750	NM_003079.5(SMARCE1):c.156+6A>G	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GUncertain significance
Select item 2987808	NM_003079.5(SMARCE1):c.621T>A (p.Leu207=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma	GLikely benign
Select item 2979897	NM_003079.5(SMARCE1):c.119G>A (p.Arg40Lys)	SMARCE1 (R40K)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2972862	NM_003079.5(SMARCE1):c.814del (p.Arg272fs)	SMARCE1 (R272fs)	Deletion (frameshift variant)	Familial meningioma	GPathogenic
Select item 2971896	NM_003079.5(SMARCE1):c.802A>G (p.Asn268Asp)	SMARCE1 (N268D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2968590	NM_003079.5(SMARCE1):c.962A>T (p.Glu321Val)	SMARCE1 (E321V)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GConflicting classifications of pathogenicity
Select item 2920446	NM_003079.5(SMARCE1):c.875C>T (p.Ala292Val)	SMARCE1 (A292V)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 2916592	NM_003079.5(SMARCE1):c.542-17C>G	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GUncertain significance
Select item 2916580	NM_003079.5(SMARCE1):c.370A>G (p.Ile124Val)	SMARCE1 (I124V)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2915716	NM_003079.5(SMARCE1):c.238-11T>C	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2908027	NM_003079.5(SMARCE1):c.993GAA[1] (p.Lys333del)	SMARCE1 (K333del)	Microsatellite (inframe_deletion)	Familial meningioma	GUncertain significance
Select item 2905554	NM_003079.5(SMARCE1):c.729T>A (p.Ala243=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma	GLikely benign
Select item 2905474	NM_003079.5(SMARCE1):c.1028A>C (p.Glu343Ala)	SMARCE1 (E343A)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2904074	NM_003079.5(SMARCE1):c.920C>T (p.Ala307Val)	SMARCE1 (A307V)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2898006	NM_003079.5(SMARCE1):c.1120del (p.Val374fs)	SMARCE1 (V374fs)	Deletion (frameshift variant)	Familial meningioma	GUncertain significance
Select item 2894076	NM_003079.5(SMARCE1):c.273A>G (p.Leu91=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma	GLikely benign
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 2882423	NM_003079.5(SMARCE1):c.541+11A>G	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
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 2881850	NM_003079.5(SMARCE1):c.237+8C>T	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2867591	NM_003079.5(SMARCE1):c.40G>A (p.Ala14Thr)	SMARCE1 (A14T)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2865461	NM_003079.5(SMARCE1):c.1027+6C>A	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GUncertain significance
Select item 2864363	NM_003079.5(SMARCE1):c.715-12C>A	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2861980	NM_003079.5(SMARCE1):c.541+8A>C	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2861277	NM_003079.5(SMARCE1):c.817-9del	SMARCE1	Deletion (intron variant)	Familial meningioma	GBenign
Select item 2858975	NM_003079.5(SMARCE1):c.810T>C (p.Leu270=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma	GLikely benign
Select item 2857842	NM_003079.5(SMARCE1):c.365A>G (p.Glu122Gly)	SMARCE1 (E122G)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2855200	NM_003079.5(SMARCE1):c.714+6G>A	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GUncertain significance
Select item 2855068	NM_003079.5(SMARCE1):c.376T>G (p.Tyr126Asp)	SMARCE1 (Y126D)	Single nucleotide variant (missense variant)	Familial meningioma	GPathogenic
Select item 2851601	NM_003079.5(SMARCE1):c.637C>T (p.Pro213Ser)	SMARCE1 (P213S)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2849429	NM_003079.5(SMARCE1):c.816+12A>G	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2843366	NM_003079.5(SMARCE1):c.928C>G (p.Gln310Glu)	SMARCE1 (Q310E)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2843261	NM_003079.5(SMARCE1):c.1179T>C (p.Ser393=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma	GLikely benign
Select item 2840585	NM_003079.5(SMARCE1):c.594A>G (p.Arg198=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma	GLikely benign
Select item 2837213	NM_003079.5(SMARCE1):c.7+10A>C	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2837164	NM_003079.5(SMARCE1):c.7+16T>C	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
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 2832861	NM_003079.5(SMARCE1):c.238-4dup	SMARCE1	Duplication (intron variant)	Familial meningioma	GBenign
Select item 2831791	NM_003079.5(SMARCE1):c.715-12C>T	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2827202	NM_003079.5(SMARCE1):c.121C>T (p.Leu41=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma	GUncertain significance
Select item 2819975	NM_003079.5(SMARCE1):c.705G>T (p.Met235Ile)	SMARCE1 (M235I)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2816914	NM_003079.5(SMARCE1):c.1018A>G (p.Met340Val)	SMARCE1 (M340V)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2813202	NM_003079.5(SMARCE1):c.817-15T>G	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2811178	NM_003079.5(SMARCE1):c.541+5A>G	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GUncertain significance
Select item 2807482	NM_003079.5(SMARCE1):c.967G>A (p.Glu323Lys)	SMARCE1 (E323K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2800570	NM_003079.5(SMARCE1):c.542-7A>G	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2799615	NM_003079.5(SMARCE1):c.562A>T (p.Met188Leu)	SMARCE1 (M188L)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2794439	NM_003079.5(SMARCE1):c.1028-12G>A	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2792205	NM_003079.5(SMARCE1):c.694C>T (p.Gln232Ter)	SMARCE1 (Q232*)	Single nucleotide variant (nonsense)	Familial meningioma	GPathogenic
Select item 2788141	NM_003079.5(SMARCE1):c.156+16A>G	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2786612	NM_003079.5(SMARCE1):c.958C>G (p.Pro320Ala)	SMARCE1 (P320A)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2786317	NM_003079.5(SMARCE1):c.138C>T (p.Gly46=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma	GLikely benign
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 2781182	NM_003079.5(SMARCE1):c.1220A>T (p.Asp407Val)	SMARCE1 (D407V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2776513	NM_003079.5(SMARCE1):c.541+17G>A	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GUncertain significance
Select item 2771247	NM_003079.5(SMARCE1):c.1095G>A (p.Glu365=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma	GLikely benign

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