"GeneDx"[submitter] AND "SMARCC2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 3366099	NM_001330288.2(SMARCC2):c.3689C>G (p.Pro1230Arg)	SMARCC2 (P1115R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283609	NM_001330288.2(SMARCC2):c.3662-39C>T	SMARCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2575626	NM_001330288.2(SMARCC2):c.3575C>T (p.Pro1192Leu)	SMARCC2 (P1161L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575760	NM_001330288.2(SMARCC2):c.3564G>T (p.Leu1188Phe)	SMARCC2 (L1157F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2507299	NM_001330288.2(SMARCC2):c.3388T>G (p.Phe1130Val)	SMARCC2 (F1099V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2444575	NM_001330288.2(SMARCC2):c.3364C>T (p.Pro1122Ser)	SMARCC2 (P1091S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663324	NM_001330288.2(SMARCC2):c.3286G>A (p.Val1096Met)	SMARCC2 (V1065M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574256	NM_001330288.2(SMARCC2):c.3284C>T (p.Ala1095Val)	SMARCC2 (A1064V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365646	NM_001330288.2(SMARCC2):c.3232+3A>G	SMARCC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 992305	NM_001330288.2(SMARCC2):c.3222del (p.Gly1075fs)	SMARCC2 (G1044fs +1 more)	Deletion (frameshift variant)	SMARCC2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3371121	NM_001330288.2(SMARCC2):c.3190C>T (p.Pro1064Ser)	SMARCC2 (P1033S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029509	NM_001330288.2(SMARCC2):c.2999C>T (p.Ser1000Phe)	SMARCC2 (S1000F +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8 +1 more	GUncertain significance
Select item 2505006	NM_001330288.2(SMARCC2):c.2978C>A (p.Pro993Gln)	SMARCC2 (P962Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366167	NM_001330288.2(SMARCC2):c.2959C>A (p.Gln987Lys)	SMARCC2 (Q956K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321824	NM_001330288.2(SMARCC2):c.2932C>T (p.Arg978Trp)	SMARCC2 (R947W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290487	NM_001330288.2(SMARCC2):c.2850+149GT[19]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1272097	NM_001330288.2(SMARCC2):c.2850+149GT[17]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1261566	NM_001330288.2(SMARCC2):c.2850+149GT[14]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1282449	NM_001330288.2(SMARCC2):c.2850+61GT[26]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1275357	NM_001330288.2(SMARCC2):c.2850+61GT[25]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1239403	NM_001330288.2(SMARCC2):c.2850+61GT[27]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1294960	NM_001330288.2(SMARCC2):c.2850+61GT[21]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1270276	NM_001330288.2(SMARCC2):c.2850+61GT[22]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1258395	NM_001330288.2(SMARCC2):c.2850+61GT[23]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 2575782	NM_001330288.2(SMARCC2):c.2850+4A>G	SMARCC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1310574	NM_001330288.2(SMARCC2):c.2796C>G (p.Ile932Met)	SMARCC2 (I901M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499285	NM_001330288.2(SMARCC2):c.2689_2700del (p.Leu897_Ala900del)	SMARCC2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1704163	NM_001330288.2(SMARCC2):c.2693C>T (p.Ala898Val)	SMARCC2 (A867V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287589	NM_001330288.2(SMARCC2):c.2682C>T (p.Ala894=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3375789	NM_001330288.2(SMARCC2):c.2571G>T (p.Glu857Asp)	SMARCC2 (E826D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365974	NM_001330288.2(SMARCC2):c.2441A>G (p.Glu814Gly)	SMARCC2 (E783G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136006	NM_001330288.2(SMARCC2):c.2369C>T (p.Ala790Val)	SMARCC2 (A759V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1255146	NM_001330288.2(SMARCC2):c.2348-68_2348-65del	SMARCC2	Deletion (intron variant)	not provided	GBenign
Select item 1707743	NM_001330288.2(SMARCC2):c.2233G>T (p.Ala745Ser)	SMARCC2 (A714S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803353	NM_001330288.2(SMARCC2):c.2206G>A (p.Glu736Lys)	SMARCC2 (E705K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251201	NM_001330288.2(SMARCC2):c.2185+123A>G	SMARCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286375	NM_001330288.2(SMARCC2):c.2185+71A>C	SMARCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343290	NM_001330288.2(SMARCC2):c.2138C>T (p.Ser713Phe)	SMARCC2 (S682F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363256	NM_001330288.2(SMARCC2):c.2118C>G (p.Ser706Arg)	SMARCC2 (S675R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368769	NM_001330288.2(SMARCC2):c.2066C>A (p.Pro689His)	SMARCC2 (P658H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365254	NM_001330288.2(SMARCC2):c.2065C>T (p.Pro689Ser)	SMARCC2 (P658S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216083	NM_001330288.2(SMARCC2):c.1959A>C (p.Lys653Asn)	SMARCC2 (K622N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571676	NM_001330288.2(SMARCC2):c.1946A>G (p.Asp649Gly)	SMARCC2 (D618G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623249	NM_001330288.2(SMARCC2):c.1922T>C (p.Leu641Pro)	SMARCC2 (L610P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3368529	NM_001330288.2(SMARCC2):c.1898C>T (p.Thr633Ile)	SMARCC2 (T602I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700456	NM_001330288.2(SMARCC2):c.1889G>A (p.Arg630His)	SMARCC2 (R599H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342867	NM_001330288.2(SMARCC2):c.1856C>T (p.Pro619Leu)	SMARCC2 (P588L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312465	NM_001330288.2(SMARCC2):c.1658_1667del (p.Gln553fs)	SMARCC2 (Q553fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3370932	NM_001330288.2(SMARCC2):c.1559C>G (p.Pro520Arg)	SMARCC2 (P520R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504195	NM_001330288.2(SMARCC2):c.1485_1486del (p.Ala496fs)	SMARCC2 (A496fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3372295	NM_001330288.2(SMARCC2):c.1478A>T (p.Asp493Val)	SMARCC2 (D493V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342316	NM_001330288.2(SMARCC2):c.1420C>T (p.Arg474Ter)	SMARCC2 (R474*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1804312	NM_001330288.2(SMARCC2):c.1409T>C (p.Ile470Thr)	SMARCC2 (I470T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309647	NM_001330288.2(SMARCC2):c.1360A>G (p.Asn454Asp)	SMARCC2 (N454D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289981	NM_001330288.2(SMARCC2):c.1311-77C>G	SMARCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219105	NM_001330288.2(SMARCC2):c.1148A>G (p.Gln383Arg)	SMARCC2 (Q383R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502561	NM_001330288.2(SMARCC2):c.1145A>G (p.Glu382Gly)	SMARCC2 (E382G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372328	NM_001330288.2(SMARCC2):c.1139T>C (p.Leu380Pro)	SMARCC2 (L380P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315078	NM_001330288.2(SMARCC2):c.1130T>A (p.Met377Lys)	SMARCC2 (M377K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663313	NM_001330288.2(SMARCC2):c.1051A>G (p.Asn351Asp)	SMARCC2 (N351D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369724	NM_001330288.2(SMARCC2):c.1036C>T (p.Pro346Ser)	SMARCC2 (P346S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506795	NM_001330288.2(SMARCC2):c.1019_1020del (p.Thr340fs)	SMARCC2 (T340fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3370649	NM_001330288.2(SMARCC2):c.1016T>C (p.Leu339Pro)	SMARCC2 (L339P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310717	NM_001330288.2(SMARCC2):c.992A>G (p.His331Arg)	SMARCC2 (H331R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311949	NM_001330288.2(SMARCC2):c.967C>T (p.Pro323Ser)	SMARCC2 (P323S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273548	NM_001330288.2(SMARCC2):c.956+78C>T	SMARCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200145	NM_001330288.2(SMARCC2):c.956+1G>T	SMARCC2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2662145	NM_001330288.2(SMARCC2):c.955G>A (p.Gly319Ser)	SMARCC2 (G319S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1219096	NM_001330288.2(SMARCC2):c.805C>T (p.Arg269Ter)	SMARCC2 (R269*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 8 +1 more	GPathogenic/Likely pathogenic
Select item 3365677	NM_001330288.2(SMARCC2):c.796G>A (p.Val266Ile)	SMARCC2 (V266I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504220	NM_001330288.2(SMARCC2):c.736G>A (p.Asp246Asn)	SMARCC2 (D246N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1240756	NM_001330288.2(SMARCC2):c.708+46A>C	SMARCC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1308727	NM_001330288.2(SMARCC2):c.691C>T (p.Pro231Ser)	SMARCC2 (P231S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501888	NM_001330288.2(SMARCC2):c.646A>C (p.Ile216Leu)	SMARCC2 (I216L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364340	NM_001330288.2(SMARCC2):c.601G>T (p.Val201Phe)	SMARCC2 (V201F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302011	NM_001330288.2(SMARCC2):c.574C>T (p.Arg192Ter)	SMARCC2 (R192*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2499880	NM_001330288.2(SMARCC2):c.497C>T (p.Thr166Ile)	SMARCC2 (T166I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370066	NM_001330288.2(SMARCC2):c.488A>C (p.His163Pro)	SMARCC2 (H163P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505872	NM_001330288.2(SMARCC2):c.453A>C (p.Lys151Asn)	SMARCC2 (K151N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275316	NM_001330288.2(SMARCC2):c.438A>G (p.Pro146=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2431019	NM_001330288.2(SMARCC2):c.435C>G (p.Cys145Trp)	SMARCC2 (C145W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254736	NM_001330288.2(SMARCC2):c.408C>G (p.Cys136Trp)	SMARCC2 (C136W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310672	NM_001330288.2(SMARCC2):c.378C>G (p.Thr126=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2502459	NM_001330288.2(SMARCC2):c.355C>T (p.Arg119Cys)	SMARCC2 (R119C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710891	NM_001330288.2(SMARCC2):c.351G>A (p.Met117Ile)	SMARCC2 (M117I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663713	NM_001330288.2(SMARCC2):c.347G>A (p.Arg116His)	SMARCC2 (R116H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1209541	NM_001330288.2(SMARCC2):c.326dup (p.Tyr109Ter)	SMARCC2 (Y109*)	Duplication (nonsense)	Neurodevelopmental delay +1 more	GPathogenic/Likely pathogenic
Select item 2500421	NM_001330288.2(SMARCC2):c.324_325delinsGC (p.Tyr109His)	SMARCC2 (Y109H)	Indel (missense variant)	not provided	GUncertain significance
Select item 3365414	NM_001330288.2(SMARCC2):c.262G>A (p.Gly88Ser)	SMARCC2 (G88S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1698025	NM_001330288.2(SMARCC2):c.252C>G (p.Phe84Leu)	SMARCC2 (F84L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699836	NM_001330288.2(SMARCC2):c.250T>G (p.Phe84Val)	SMARCC2 (F84V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505987	NM_001330288.2(SMARCC2):c.238T>A (p.Cys80Ser)	SMARCC2 (C80S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315260	NM_001330288.2(SMARCC2):c.95G>C (p.Gly32Ala)	LOC130008058, SMARCC2 (G32A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368456	NM_001330288.2(SMARCC2):c.18G>T (p.Lys6Asn)	SMARCC2 (K6N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497790	NM_001330288.2(SMARCC2):c.13A>C (p.Lys5Gln)	SMARCC2 (K5Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290830	NC_000012.12:g.56189702A>G	SMARCC2, LOC130008059	Single nucleotide variant	not provided	GBenign
Select item 3362031	NM_001330288.2(SMARCC2):c.2857T>G (p.Tyr953Asp)	SMARCC2 (Y922D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360944	NM_001330288.2(SMARCC2):c.2392_2393del (p.Thr797_Asp798insTer)	SMARCC2	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 3359479	NM_001330288.2(SMARCC2):c.974C>T (p.Thr325Ile)	SMARCC2 (T325I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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