SMARCA2[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1188

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582642	NM_003070.5(SMARCA2):c.-37+1G>T	SMARCA2	Single nucleotide variant (splice donor variant)	Nicolaides-Baraitser syndrome +1 more	GUncertain significance
Select item 1231248	NM_003070.5(SMARCA2):c.-36-230T>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191112	NM_003070.5(SMARCA2):c.-36-205T>C	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251909	NM_003070.5(SMARCA2):c.-36-45A>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 126341	NM_003070.5(SMARCA2):c.-5G>A	SMARCA2	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign
Select item 2240617	NM_003070.5(SMARCA2):c.8C>T (p.Thr3Met)	SMARCA2 (T3M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2184697	NM_003070.5(SMARCA2):c.9G>A (p.Thr3=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3248528	NM_003070.5(SMARCA2):c.26C>T (p.Ala9Val)	SMARCA2 (A9V)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely benign
Select item 2708966	NM_003070.5(SMARCA2):c.27G>A (p.Ala9=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174807	NM_003070.5(SMARCA2):c.31C>T (p.Pro11Ser)	SMARCA2 (P11S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 522971	NM_003070.5(SMARCA2):c.31C>A (p.Pro11Thr)	SMARCA2 (P11T)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1186796	NM_003070.5(SMARCA2):c.50C>T (p.Pro17Leu)	SMARCA2 (P17L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2187114	NM_003070.5(SMARCA2):c.51G>A (p.Pro17=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1245835	NM_003070.5(SMARCA2):c.51G>C (p.Pro17=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2770349	NM_003070.5(SMARCA2):c.53G>A (p.Gly18Glu)	SMARCA2 (G18E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429808	NM_003070.5(SMARCA2):c.67C>T (p.Pro23Ser)	SMARCA2 (P23S)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2783133	NM_003070.5(SMARCA2):c.77T>C (p.Ile26Thr)	SMARCA2 (I26T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 366193	NM_003070.5(SMARCA2):c.97C>T (p.Pro33Ser)	SMARCA2 (P33S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2720233	NM_003070.5(SMARCA2):c.104C>T (p.Pro35Leu)	SMARCA2 (P35L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 914394	NM_003070.5(SMARCA2):c.105A>G (p.Pro35=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 2734005	NM_003070.5(SMARCA2):c.113G>A (p.Gly38Asp)	SMARCA2 (G38D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1741791	NM_003070.5(SMARCA2):c.117C>T (p.Ser39=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2033263	NM_003070.5(SMARCA2):c.118G>A (p.Val40Ile)	SMARCA2 (V40I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2984052	NM_003070.5(SMARCA2):c.130A>G (p.Met44Val)	SMARCA2 (M44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750138	NM_003070.5(SMARCA2):c.134G>C (p.Gly45Ala)	SMARCA2 (G45A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1810485	NM_003070.5(SMARCA2):c.143C>G (p.Pro48Arg)	SMARCA2 (P48R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708599	NM_003070.5(SMARCA2):c.154A>G (p.Ser52Gly)	SMARCA2 (S52G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721867	NM_003070.5(SMARCA2):c.155G>C (p.Ser52Thr)	SMARCA2 (S52T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365866	NM_003070.5(SMARCA2):c.173C>T (p.Pro58Leu)	SMARCA2 (P58L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 126343	NM_003070.5(SMARCA2):c.174G>A (p.Pro58=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 366194	NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser)	SMARCA2 (T59S)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +2 more	GConflicting classifications of pathogenicity
Select item 126344	NM_003070.5(SMARCA2):c.177G>A (p.Thr59=)	SMARCA2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 3166273	NM_003070.5(SMARCA2):c.181G>A (p.Gly61Arg)	SMARCA2 (G61R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 449800	NM_003070.5(SMARCA2):c.182G>C (p.Gly61Ala)	SMARCA2 (G61A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998922	NM_003070.5(SMARCA2):c.183G>T (p.Gly61=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1781855	NM_003070.5(SMARCA2):c.187A>T (p.Thr63Ser)	SMARCA2 (T63S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2800321	NM_003070.5(SMARCA2):c.189A>C (p.Thr63=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659027	NM_003070.5(SMARCA2):c.193T>C (p.Phe65Leu)	SMARCA2 (F65L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2632646	NM_003070.5(SMARCA2):c.195C>G (p.Phe65Leu)	SMARCA2 (F65L)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GUncertain significance
Select item 1706204	NM_003070.5(SMARCA2):c.196C>G (p.Pro66Ala)	SMARCA2 (P66A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984523	NM_003070.5(SMARCA2):c.208A>T (p.Met70Leu)	SMARCA2 (M70L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1311613	NM_003070.5(SMARCA2):c.209T>A (p.Met70Lys)	SMARCA2 (M70K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 588943	NM_003070.5(SMARCA2):c.210G>A (p.Met70Ile)	SMARCA2 (M70I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3040463	NM_003070.5(SMARCA2):c.215A>C (p.Gln72Pro)	SMARCA2 (Q72P)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GUncertain significance
Select item 2540713	NM_003070.5(SMARCA2):c.221A>G (p.His74Arg)	SMARCA2 (H74R)	Single nucleotide variant (missense variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2860556	NM_003070.5(SMARCA2):c.225+7G>A	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2002472	NM_003070.5(SMARCA2):c.225+12T>C	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273778	NM_003070.5(SMARCA2):c.225+28C>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185805	NM_003070.5(SMARCA2):c.225+145G>A	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232226	NM_003070.5(SMARCA2):c.225+207C>A	SMARCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219596	NM_003070.5(SMARCA2):c.226-234AAAC[7]	SMARCA2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1194512	NM_003070.5(SMARCA2):c.226-234AAAC[8]	SMARCA2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1209526	NM_003070.5(SMARCA2):c.226-123T>C	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235432	NM_003070.5(SMARCA2):c.226-107G>A	SMARCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249904	NM_003070.5(SMARCA2):c.226-20A>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2191129	NM_003070.5(SMARCA2):c.228C>T (p.Pro76=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659028	NM_003070.5(SMARCA2):c.229A>G (p.Ile77Val)	SMARCA2 (I77V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 588510	NM_003070.5(SMARCA2):c.231C>T (p.Ile77=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 2990125	NM_003070.5(SMARCA2):c.238A>G (p.Ile80Val)	SMARCA2 (I80V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3166274	NM_003070.5(SMARCA2):c.242A>C (p.His81Pro)	SMARCA2 (H81P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 366195	NM_003070.5(SMARCA2):c.246C>T (p.Asp82=)	SMARCA2	Single nucleotide variant (synonymous variant)	Blepharophimosis-impaired intellectual development syndrome +3 more	GBenign/Likely benign
Select item 2436128	NM_003070.5(SMARCA2):c.248A>C (p.Lys83Thr)	SMARCA2 (K83T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351782	NM_003070.5(SMARCA2):c.251G>A (p.Gly84Glu)	SMARCA2 (G84E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032870	NM_003070.5(SMARCA2):c.274G>A (p.Gly92Arg)	SMARCA2 (G92R)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1931170	NM_003070.5(SMARCA2):c.289A>G (p.Thr97Ala)	SMARCA2 (T97A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1938352	NM_003070.5(SMARCA2):c.304C>A (p.Pro102Thr)	SMARCA2 (P102T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2913482	NM_003070.5(SMARCA2):c.305C>A (p.Pro102His)	SMARCA2 (P102H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2853503	NM_003070.5(SMARCA2):c.310C>T (p.Pro104Ser)	SMARCA2 (P104S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957348	NM_003070.5(SMARCA2):c.316A>G (p.Met106Val)	SMARCA2 (M106V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 914395	NM_003070.5(SMARCA2):c.324T>A (p.Pro108=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1308195	NM_003070.5(SMARCA2):c.334C>T (p.Pro112Ser)	SMARCA2 (P112S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3320678	NM_003070.5(SMARCA2):c.337A>G (p.Met113Val)	SMARCA2 (M113V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1913191	NM_003070.5(SMARCA2):c.337A>C (p.Met113Leu)	SMARCA2 (M113L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308470	NM_003070.5(SMARCA2):c.344A>T (p.Gln115Leu)	SMARCA2 (Q115L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906563	NM_003070.5(SMARCA2):c.355+10C>T	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1558399	NM_003070.5(SMARCA2):c.355+18A>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251903	NM_003070.5(SMARCA2):c.355+49A>C	SMARCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244769	NM_003070.5(SMARCA2):c.355+101A>C	SMARCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228940	NM_003070.5(SMARCA2):c.356-253A>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192109	NM_003070.5(SMARCA2):c.356-220dup	SMARCA2	Duplication (intron variant)	not provided	GLikely benign
Select item 1282930	NM_003070.5(SMARCA2):c.356-220del	SMARCA2	Deletion (intron variant)	not provided	GBenign
Select item 1211670	NM_003070.5(SMARCA2):c.356-55T>C	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3365095	NM_003070.5(SMARCA2):c.356-1G>C	SMARCA2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3320677	NM_003070.5(SMARCA2):c.358T>C (p.Tyr120His)	SMARCA2 (Y120H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2579863	NM_003070.5(SMARCA2):c.373C>T (p.Pro125Ser)	SMARCA2 (P125S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 914396	NM_003070.5(SMARCA2):c.399C>T (p.His133=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 589374	NM_003070.5(SMARCA2):c.400G>A (p.Val134Ile)	SMARCA2 (V134I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1678310	NM_003070.5(SMARCA2):c.413T>C (p.Met138Thr)	SMARCA2 (M138T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1740878	NM_003070.5(SMARCA2):c.447A>T (p.Pro149=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1741702	NM_003070.5(SMARCA2):c.458C>T (p.Pro153Leu)	SMARCA2 (P153L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 914397	NM_003070.5(SMARCA2):c.459G>A (p.Pro153=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 126348	NM_003070.5(SMARCA2):c.462G>A (p.Gly154=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2436131	NM_003070.5(SMARCA2):c.463G>T (p.Ala155Ser)	SMARCA2 (A155S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817478	NM_003070.5(SMARCA2):c.473del (p.Pro158fs)	SMARCA2 (P158fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2574440	NM_003070.5(SMARCA2):c.472C>T (p.Pro158Ser)	SMARCA2 (P158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703967	NM_003070.5(SMARCA2):c.475G>C (p.Gly159Arg)	SMARCA2 (G159R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 126350	NM_003070.5(SMARCA2):c.482C>T (p.Pro161Leu)	SMARCA2 (P161L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1278061	NM_003070.5(SMARCA2):c.483G>A (p.Pro161=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 366196	NM_003070.5(SMARCA2):c.483G>T (p.Pro161=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome +3 more	GBenign/Likely benign
Select item 1311425	NM_003070.5(SMARCA2):c.497A>G (p.Gln166Arg)	SMARCA2 (Q166R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 12