ClinVar for MedGen (Select 764829) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256748	NM_000314.8(PTEN):c.356T>C (p.Val119Ala)	PTEN (V119A +1 more)	Single nucleotide variant (missense variant +1 more)	Familial meningioma	GLikely pathogenic
Select item 3243032	NC_000017.10:g.(?_38787824)_(38787965_?)del	SMARCE1	Deletion	Familial meningioma	GUncertain significance
Select item 3240559	NM_016169.4(SUFU):c.944G>C (p.Gly315Ala)	SUFU (G315A)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 3240557	NM_016169.4(SUFU):c.598-83G>A	SUFU	Single nucleotide variant (intron variant)	Familial meningioma	GUncertain significance
Select item 3240556	NM_016169.4(SUFU):c.1157+1del	SUFU	Deletion (splice donor variant)	Familial meningioma	GLikely pathogenic
Select item 3240555	NM_016169.4(SUFU):c.1333G>A (p.Glu445Lys)	SUFU (E445K)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 3239948	NM_000268.4(NF2):c.1507G>T (p.Asp503Tyr)	NF2 (D325Y +8 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma	GUncertain significance
Select item 3239947	NM_000268.4(NF2):c.1729A>G (p.Ile577Val)	NF2 (I399V +8 more)	Single nucleotide variant (missense variant +1 more)	Familial meningioma	GUncertain significance
Select item 3239946	NM_000268.4(NF2):c.1712G>T (p.Ser571Ile)	NF2 (S393I +8 more)	Single nucleotide variant (missense variant +1 more)	Familial meningioma	GUncertain significance
Select item 3239945	NM_000268.4(NF2):c.99G>A (p.Met33Ile)	NF2 (M33I)	Single nucleotide variant (missense variant +2 more)	Familial meningioma	GUncertain significance
Select item 3239944	NM_000268.4(NF2):c.388A>G (p.Lys130Glu)	NF2 (K53E +5 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma	GUncertain significance
Select item 3064176	NM_014575.4(SCHIP1):c.1354C>T (p.Arg452Ter)	IQCJ-SCHIP1, SCHIP1 (R220* +19 more)	Single nucleotide variant (nonsense +1 more)	Familial meningioma	GLikely pathogenic
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 2929189	NM_016169.4(SUFU):c.68C>G (p.Pro23Arg)	LOC130004614, SUFU (P23R)	Single nucleotide variant (missense variant)	Familial meningioma +2 more	GUncertain significance
Select item 2928736	NM_016169.4(SUFU):c.1180C>G (p.His394Asp)	SUFU (H394D)	Single nucleotide variant (missense variant)	Familial meningioma +2 more	GUncertain significance
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
Select item 2771141	NM_003079.5(SMARCE1):c.605T>G (p.Leu202Arg)	SMARCE1 (L202R)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2771140	NM_003079.5(SMARCE1):c.607A>C (p.Ile203Leu)	SMARCE1 (I203L)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2770217	NM_003079.5(SMARCE1):c.133C>G (p.Pro45Ala)	SMARCE1 (P45A)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2767126	NM_003079.5(SMARCE1):c.263A>G (p.Asn88Ser)	SMARCE1 (N88S)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2764051	NM_000268.4(NF2):c.1562T>C (p.Ile521Thr)	NF2 (I438T +8 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 2763030	NM_003079.5(SMARCE1):c.989_990delinsGC (p.Glu330Gly)	SMARCE1 (E330G)	Indel (missense variant)	Familial meningioma	GUncertain significance
Select item 2762834	NM_003079.5(SMARCE1):c.860C>T (p.Ala287Val)	SMARCE1 (A287V)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
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 2749952	NM_003079.5(SMARCE1):c.1075G>A (p.Glu359Lys)	SMARCE1 (E359K)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2749461	NM_003079.5(SMARCE1):c.22G>A (p.Ala8Thr)	SMARCE1 (A8T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2748786	NM_003079.5(SMARCE1):c.166G>A (p.Gly56Ser)	SMARCE1 (G56S)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 2745283	NM_003079.5(SMARCE1):c.916G>A (p.Glu306Lys)	SMARCE1 (E306K)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2744171	NM_003079.5(SMARCE1):c.1027+8A>G	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2742124	NM_003079.5(SMARCE1):c.657C>G (p.Val219=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma	GLikely benign
Select item 2737953	NM_003079.5(SMARCE1):c.714+9A>G	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2737595	NM_003079.5(SMARCE1):c.715-20A>G	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	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 2727447	NM_003079.5(SMARCE1):c.1164C>A (p.Gly388=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma +1 more	GLikely benign
Select item 2725201	NM_003079.5(SMARCE1):c.542-15A>C	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2723556	NM_003079.5(SMARCE1):c.542-4C>G	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2723037	NM_003079.5(SMARCE1):c.370-13A>G	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2720897	NM_003079.5(SMARCE1):c.157-19G>A	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma	GLikely benign
Select item 2718463	NM_003079.5(SMARCE1):c.435A>C (p.Ala145=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma	GLikely benign
Select item 2717292	NM_003079.5(SMARCE1):c.618T>G (p.Ile206Met)	SMARCE1 (I206M)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2716841	NM_003079.5(SMARCE1):c.955G>T (p.Val319Phe)	SMARCE1 (V319F)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance

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