"Ambry Genetics"[submitter] AND "SMARCA2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126341	NM_003070.5(SMARCA2):c.-5G>A	SMARCA2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases +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 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 366193	NM_003070.5(SMARCA2):c.97C>T (p.Pro33Ser)	SMARCA2 (P33S)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +3 more	GBenign/Likely benign
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 126343	NM_003070.5(SMARCA2):c.174G>A (p.Pro58=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 366194	NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser)	SMARCA2 (T59S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 126344	NM_003070.5(SMARCA2):c.177G>A (p.Thr59=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 1781855	NM_003070.5(SMARCA2):c.187A>T (p.Thr63Ser)	SMARCA2 (T63S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 588943	NM_003070.5(SMARCA2):c.210G>A (p.Met70Ile)	SMARCA2 (M70I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2540713	NM_003070.5(SMARCA2):c.221A>G (p.His74Arg)	SMARCA2 (H74R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588510	NM_003070.5(SMARCA2):c.231C>T (p.Ile77=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 366195	NM_003070.5(SMARCA2):c.246C>T (p.Asp82=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
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 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 126348	NM_003070.5(SMARCA2):c.462G>A (p.Gly154=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 126350	NM_003070.5(SMARCA2):c.482C>T (p.Pro161Leu)	SMARCA2 (P161L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 366196	NM_003070.5(SMARCA2):c.483G>T (p.Pro161=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2307437	NM_003070.5(SMARCA2):c.500C>G (p.Pro167Arg)	SMARCA2 (P167R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 212229	NM_003070.5(SMARCA2):c.513C>A (p.Pro171=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1750892	NM_003070.5(SMARCA2):c.598G>A (p.Glu200Lys)	SMARCA2 (E200K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1752442	NM_003070.5(SMARCA2):c.624G>T (p.Gly208=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1679674	NM_003070.5(SMARCA2):c.632C>T (p.Thr211Met)	SMARCA2 (T211M)	Single nucleotide variant (missense variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GUncertain significance
Select item 1752950	NM_003070.5(SMARCA2):c.633G>A (p.Thr211=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1212093	NM_003070.5(SMARCA2):c.666_686del (p.Gln232_Gln238del)	SMARCA2	Deletion (inframe_indel +1 more)	not provided +1 more	GLikely benign
Select item 1754734	NM_003070.5(SMARCA2):c.666_668del (p.Gln238del)	SMARCA2 (Q238del)	Deletion (inframe_indel +1 more)	Inborn genetic diseases	GLikely benign
Select item 1209185	NM_003070.5(SMARCA2):c.669GCA[18] (p.Gln238_Pro239insGlnGlnGlnGlnGln)	SMARCA2	Microsatellite (inframe_indel +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 588473	NM_003070.5(SMARCA2):c.669GCA[17] (p.Gln238_Pro239insGlnGlnGlnGln)	SMARCA2	Microsatellite (inframe_indel +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 587963	NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln)	SMARCA2	Microsatellite (inframe_insertion +1 more)	Nicolaides-Baraitser syndrome +3 more	GBenign/Likely benign
Select item 436800	NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln238_Pro239insGlnGln)	SMARCA2	Microsatellite (inframe_indel +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 436797	NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238_Pro239insGln)	SMARCA2	Microsatellite (inframe_indel +1 more)	not provided +2 more	GBenign
Select item 366197	NM_003070.5(SMARCA2):c.666A>G (p.Gln222=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 588716	NM_003070.5(SMARCA2):c.669GCA[9] (p.Gln235_Gln238del)	SMARCA2	Microsatellite (inframe_indel +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 587879	NM_003070.5(SMARCA2):c.669GCA[11] (p.Gln237_Gln238del)	SMARCA2	Microsatellite (inframe_indel +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 587833	NM_003070.5(SMARCA2):c.669GCA[6] (p.Gln232_Gln238del)	SMARCA2	Microsatellite (inframe_indel +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 436801	NM_003070.5(SMARCA2):c.669GCA[5] (p.Gln231_Gln238del)	SMARCA2	Microsatellite (inframe_indel +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 212231	NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del)	SMARCA2	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 212230	NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del)	SMARCA2	Microsatellite (inframe_indel +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 126353	NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del)	SMARCA2 (Q238del)	Microsatellite (inframe_deletion +1 more)	Nicolaides-Baraitser syndrome +4 more	GBenign
Select item 366198	NM_003070.5(SMARCA2):c.669G>A (p.Gln223=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome +2 more	GBenign/Likely benign
Select item 1755434	NM_003070.5(SMARCA2):c.678G>A (p.Gln226=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2611186	NM_003070.5(SMARCA2):c.680A>G (p.Gln227Arg)	SMARCA2 (Q227R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 588909	NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro)	SMARCA2 (Q227P)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +2 more	GBenign/Likely benign
Select item 1188115	NM_003070.5(SMARCA2):c.681G>A (p.Gln227=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 588299	NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro)	SMARCA2	Insertion (inframe_indel +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 126351	NM_003070.5(SMARCA2):c.683A>C (p.Gln228Pro)	SMARCA2 (Q228P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 1756430	NM_003070.5(SMARCA2):c.698_727dup (p.Gln242_Pro243insGlnGlnGlnGlnGlnGlnProGlnGlnGln)	SMARCA2	Duplication (inframe_indel +1 more)	Inborn genetic diseases	GLikely benign
Select item 912949	NM_003070.5(SMARCA2):c.689A>C (p.Gln230Pro)	SMARCA2 (Q230P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1757006	NM_003070.5(SMARCA2):c.707_727dup (p.Gln242_Pro243insGlnGlnGlnProGlnGlnGln)	SMARCA2	Duplication (inframe_indel +1 more)	Inborn genetic diseases	GLikely benign
Select item 366200	NM_003070.5(SMARCA2):c.695A>C (p.Gln232Pro)	SMARCA2 (Q232P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1757042	NM_003070.5(SMARCA2):c.708_713dup (p.Gln238_Pro239insGlnGln)	SMARCA2	Duplication (inframe_indel +1 more)	Inborn genetic diseases	GLikely benign
Select item 1249161	NM_003070.5(SMARCA2):c.716C>T (p.Pro239Leu)	SMARCA2 (P239L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 126354	NM_003070.5(SMARCA2):c.717G>A (p.Pro239=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 2389574	NM_003070.5(SMARCA2):c.731C>T (p.Pro244Leu)	SMARCA2 (P244L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1758365	NM_003070.5(SMARCA2):c.732G>A (p.Pro244=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1758553	NM_003070.5(SMARCA2):c.736C>T (p.Pro246Ser)	SMARCA2 (P246S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 589294	NM_003070.5(SMARCA2):c.744G>A (p.Thr248=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 366203	NM_003070.5(SMARCA2):c.750A>G (p.Gln250=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1760005	NM_003070.5(SMARCA2):c.765C>G (p.Ala255=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2278208	NM_003070.5(SMARCA2):c.799C>T (p.Pro267Ser)	SMARCA2 (P267S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547443	NM_003070.5(SMARCA2):c.820A>G (p.Thr274Ala)	SMARCA2 (T274A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279363	NM_003070.5(SMARCA2):c.821C>A (p.Thr274Asn)	SMARCA2 (T274N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1763657	NM_003070.5(SMARCA2):c.850_873del (p.Gly284_Pro291del)	SMARCA2	Deletion (inframe_indel +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588156	NM_003070.5(SMARCA2):c.844G>A (p.Ala282Thr)	SMARCA2 (A282T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1763529	NM_003070.5(SMARCA2):c.847C>T (p.Pro283Ser)	SMARCA2 (P283S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1302166	NM_003070.5(SMARCA2):c.869C>T (p.Ala290Val)	SMARCA2 (A290V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1919448	NM_003070.5(SMARCA2):c.871C>T (p.Pro291Ser)	SMARCA2 (P291S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 913314	NM_003070.5(SMARCA2):c.876C>T (p.Pro292=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1764677	NM_003070.5(SMARCA2):c.879A>G (p.Ala293=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 588983	NM_003070.5(SMARCA2):c.887A>C (p.Gln296Pro)	SMARCA2 (Q296P)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +2 more	GUncertain significance
Select item 2224681	NM_003070.5(SMARCA2):c.890C>T (p.Pro297Leu)	SMARCA2 (P297L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1765378	NM_003070.5(SMARCA2):c.899C>T (p.Ala300Val)	SMARCA2 (A300V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1765550	NM_003070.5(SMARCA2):c.903A>G (p.Ala301=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2319884	NM_003070.5(SMARCA2):c.904G>A (p.Val302Met)	SMARCA2 (V302M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1765764	NM_003070.5(SMARCA2):c.909C>T (p.Pro303=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1768313	NM_003070.5(SMARCA2):c.981C>T (p.Arg327=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1265175	NM_003070.5(SMARCA2):c.1080A>G (p.Glu360=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 126342	NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1732506	NM_003070.5(SMARCA2):c.1146A>C (p.Ala382=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1197110	NM_003070.5(SMARCA2):c.1201C>T (p.Arg401Cys)	SMARCA2 (R401C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1753893	NM_003070.5(SMARCA2):c.1224G>A (p.Thr408=)	SMARCA2	Single nucleotide variant (synonymous variant)	SMARCA2-related condition +1 more	GLikely benign
Select item 1723000	NM_003070.5(SMARCA2):c.1265C>G (p.Thr422Ser)	SMARCA2 (T422S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1227377	NM_003070.5(SMARCA2):c.1266T>A (p.Thr422=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 366205	NM_003070.5(SMARCA2):c.1422G>A (p.Gln474=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome +3 more	GBenign/Likely benign
Select item 829813	NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln)	SMARCA2 (R505Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 522058	NM_003070.5(SMARCA2):c.1586T>G (p.Leu529Arg)	SMARCA2 (L529R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1777988	NM_003070.5(SMARCA2):c.1685G>A (p.Arg562Lys)	SMARCA2 (R562K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1778015	NM_003070.5(SMARCA2):c.1686G>A (p.Arg562=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 366208	NM_003070.5(SMARCA2):c.1806C>T (p.Thr602=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 126345	NM_003070.5(SMARCA2):c.1827A>G (p.Pro609=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 212224	NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1301177	NM_003070.5(SMARCA2):c.1890C>T (p.Ala630=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1878841	NM_003070.5(SMARCA2):c.1941G>T (p.Glu647Asp)	SMARCA2 (E647D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 366210	NM_003070.5(SMARCA2):c.1962G>A (p.Gln654=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2256675	NM_003070.5(SMARCA2):c.2087G>C (p.Arg696Thr)	SMARCA2 (R696T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 588159	NM_003070.5(SMARCA2):c.2136G>A (p.Val712=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1327195	NM_003070.5(SMARCA2):c.2244C>T (p.Ala748=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign

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