ClinVar for MedGen (Select 413749) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248482	NC_000019.9:g.(?_11138450)_(11172492_?)dup	SMARCA4	Duplication	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3248481	NC_000019.9:g.(?_11094828)_(11373116_?)dup	ANGPTL8, DOCK6 +4 more	Duplication	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3248480	NC_000019.9:g.(?_11138450)_(11141579_?)del	SMARCA4	Deletion	Rhabdoid tumor predisposition syndrome 2	GPathogenic
Select item 3248479	NC_000019.9:g.(?_11118568)_(11172492_?)del	SMARCA4	Deletion	Rhabdoid tumor predisposition syndrome 2	GPathogenic
Select item 3248478	NC_000019.9:g.(?_11150114)_(11150249_?)del	SMARCA4	Deletion	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3240531	NM_003072.5(SMARCA4):c.3159G>T (p.Gln1053His)	SMARCA4 (Q1053H)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3240530	NM_003072.5(SMARCA4):c.1078G>A (p.Gly360Ser)	SMARCA4 (G360S)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3240529	NM_003072.5(SMARCA4):c.237G>A (p.Met79Ile)	SMARCA4 (M79I)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3240527	NM_003072.5(SMARCA4):c.389C>T (p.Ala130Val)	SMARCA4 (A130V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3240526	NM_003072.5(SMARCA4):c.521A>G (p.Gln174Arg)	SMARCA4 (Q174R)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3240525	NM_003072.5(SMARCA4):c.4220del (p.Lys1407fs)	SMARCA4 (K1374fs +4 more)	Deletion (frameshift variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely pathogenic
Select item 3240524	NM_003072.5(SMARCA4):c.122G>T (p.Ser41Ile)	SMARCA4 (S41I)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3238740	NM_003072.5(SMARCA4):c.2303T>C (p.Leu768Pro)	SMARCA4 (L768P)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely pathogenic
Select item 3068480	NM_003072.5(SMARCA4):c.3440_3441del (p.Gly1146_Ser1147insTer)	SMARCA4	Microsatellite (nonsense +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely pathogenic
Select item 3022752	NM_003072.5(SMARCA4):c.3169-9G>A	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 3022301	NM_003072.5(SMARCA4):c.3382+15G>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 3022265	NM_003072.5(SMARCA4):c.771G>T (p.Gly257=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 3020750	NM_003072.5(SMARCA4):c.860-10C>G	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 3020010	NM_003072.5(SMARCA4):c.502G>A (p.Gly168Ser)	SMARCA4 (G168S)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3019272	NM_003072.5(SMARCA4):c.3389C>T (p.Thr1130Met)	SMARCA4 (T1130M)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3018209	NM_003072.5(SMARCA4):c.2400A>G (p.Lys800=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 3017376	NM_003072.5(SMARCA4):c.4066C>T (p.Arg1356Trp)	SMARCA4 (R1323W +1 more)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3015946	NM_003072.5(SMARCA4):c.842C>T (p.Pro281Leu)	SMARCA4 (P281L)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3015808	NM_003072.5(SMARCA4):c.2071C>T (p.Pro691Ser)	SMARCA4 (P691S)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3015151	NM_003072.5(SMARCA4):c.2748C>T (p.Asn916=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
Select item 3013983	NM_003072.5(SMARCA4):c.2986A>G (p.Ile996Val)	SMARCA4 (I996V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3013743	NM_003072.5(SMARCA4):c.1594-13del	SMARCA4	Deletion (intron variant)	Rhabdoid tumor predisposition syndrome 2	GBenign
Select item 3010444	NM_003072.5(SMARCA4):c.672G>C (p.Ser224=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 3007990	NM_003072.5(SMARCA4):c.2702A>G (p.Tyr901Cys)	SMARCA4 (Y901C)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3006275	NM_003072.5(SMARCA4):c.2859+18T>C	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 3005781	NM_003072.5(SMARCA4):c.3181G>A (p.Glu1061Lys)	SMARCA4 (E1061K)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3005507	NM_003072.5(SMARCA4):c.4911+20C>A	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 3004662	NM_003072.5(SMARCA4):c.2884A>G (p.Ile962Val)	SMARCA4 (I962V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3003067	NM_003072.5(SMARCA4):c.3952-11C>G	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3002748	NM_003072.5(SMARCA4):c.2505+15C>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 3001366	NM_003072.5(SMARCA4):c.3874-16G>C	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 3000185	NM_003072.5(SMARCA4):c.1761+10G>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2999703	NM_003072.5(SMARCA4):c.4365A>C (p.Pro1455=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2999692	NM_003072.5(SMARCA4):c.1077G>C (p.Arg359=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2998360	NM_003072.5(SMARCA4):c.3477G>T (p.Gly1159=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2996401	NM_003072.5(SMARCA4):c.949G>A (p.Ala317Thr)	SMARCA4 (A317T)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2995203	NM_003072.5(SMARCA4):c.3215+15A>G	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2993858	NM_003072.5(SMARCA4):c.4330G>A (p.Gly1444Arg)	SMARCA4 (G1443R +4 more)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2990523	NM_003072.5(SMARCA4):c.2973+7G>A	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2988718	NM_003072.5(SMARCA4):c.223-15T>C	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2987946	NM_001387283.1(SMARCA4):c.4266+2T>A	SMARCA4	Single nucleotide variant (intron variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2986555	NM_003072.5(SMARCA4):c.301G>C (p.Gly101Arg)	SMARCA4 (G101R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2986254	NM_003072.5(SMARCA4):c.4912-16_4912-14del	SMARCA4	Microsatellite (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2985382	NM_003072.5(SMARCA4):c.4170+5A>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2984897	NM_003072.5(SMARCA4):c.4912-18C>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2983802	NM_003072.5(SMARCA4):c.3049C>T (p.Leu1017=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2982681	NM_003072.5(SMARCA4):c.3351G>C (p.Ala1117=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2982091	NM_003072.5(SMARCA4):c.2868G>A (p.Leu956=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2980111	NM_003072.5(SMARCA4):c.1943+15G>C	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2977837	NM_003072.5(SMARCA4):c.761-19T>C	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2977731	NM_003072.5(SMARCA4):c.2859+8T>C	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2976190	NM_001387283.1(SMARCA4):c.4185A>G (p.Lys1395=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2975566	NM_003072.5(SMARCA4):c.2973+19dup	SMARCA4	Duplication (intron variant)	Rhabdoid tumor predisposition syndrome 2	GBenign
Select item 2973355	NM_003072.5(SMARCA4):c.737_738insCGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCCGGCACC (p.Pro246_Pro247insGlyProGlyProGlyProGlyProGlyProGlyProAlaPro)	SMARCA4	Microsatellite (inframe_insertion +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2971490	NM_003072.5(SMARCA4):c.3168+10C>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2966789	NM_003072.5(SMARCA4):c.132G>C (p.Gly44=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2963959	NM_003072.5(SMARCA4):c.4275C>T (p.Thr1425=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2963306	NM_003072.5(SMARCA4):c.1699C>A (p.Leu567Met)	SMARCA4 (L567M)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2962766	NM_003072.5(SMARCA4):c.1977A>C (p.Glu659Asp)	SMARCA4 (E659D)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2961173	NM_003072.5(SMARCA4):c.3081+16C>A	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2961157	NM_003072.5(SMARCA4):c.1420-18T>C	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2960253	NM_003072.5(SMARCA4):c.1994A>G (p.Glu665Gly)	SMARCA4 (E665G)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2920490	NM_003072.5(SMARCA4):c.4425-18G>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2920087	NM_003072.5(SMARCA4):c.760+7C>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2919959	NM_003072.5(SMARCA4):c.4519T>G (p.Phe1507Val)	SMARCA4 (F1477V +6 more)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2918867	NM_003072.5(SMARCA4):c.3546+19C>A	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2918203	NM_003072.5(SMARCA4):c.881C>T (p.Ala294Val)	SMARCA4 (A294V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2918179	NM_003072.5(SMARCA4):c.4533+12G>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2918164	NM_003072.5(SMARCA4):c.3672G>C (p.Val1224=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2917431	NM_003072.5(SMARCA4):c.1119-19T>C	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2917395	NM_003072.5(SMARCA4):c.976A>G (p.Met326Val)	SMARCA4 (M326V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2917169	NM_003072.5(SMARCA4):c.4171-1746G>C	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2917118	NM_003072.5(SMARCA4):c.1419+20A>G	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2916924	NM_003072.5(SMARCA4):c.1246-19G>A	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2916657	NM_001387283.1(SMARCA4):c.4200A>T (p.Thr1400=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2916172	NM_003072.5(SMARCA4):c.3382+20G>A	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2915967	NM_003072.5(SMARCA4):c.904C>A (p.Leu302Met)	SMARCA4 (L302M)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2914234	NM_003072.5(SMARCA4):c.770G>T (p.Gly257Val)	SMARCA4 (G257V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2913508	NM_003072.5(SMARCA4):c.4911+14C>G	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2912945	NM_003072.5(SMARCA4):c.1944-20A>G	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2912602	NM_003072.5(SMARCA4):c.3952-17G>A	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2911767	NM_003072.5(SMARCA4):c.1943+11C>A	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2911751	NM_003072.5(SMARCA4):c.3546+18C>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2911442	NM_003072.5(SMARCA4):c.1594-15C>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2911325	NM_003072.5(SMARCA4):c.2046G>A (p.Leu682=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2909761	NM_003072.5(SMARCA4):c.3383-11G>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2908278	NM_003072.5(SMARCA4):c.1246-11C>G	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2907323	NM_003072.5(SMARCA4):c.2448C>T (p.Ser816=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2905910	NM_003072.5(SMARCA4):c.3249G>A (p.Glu1083=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2905281	NM_003072.5(SMARCA4):c.3768G>A (p.Gln1256=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2904310	NM_003072.5(SMARCA4):c.859+18T>C	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2904300	NM_003072.5(SMARCA4):c.4218G>A (p.Gln1406=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2903122	NM_003072.5(SMARCA4):c.3345C>T (p.Tyr1115=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2902592	NM_003072.5(SMARCA4):c.613C>G (p.Gln205Glu)	SMARCA4 (Q205E)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2901853	NM_003072.5(SMARCA4):c.2323G>A (p.Gly775Ser)	SMARCA4 (G775S)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance

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