ClinVar for Gene (Select 6595) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373245	NM_003070.5(SMARCA2):c.709C>A (p.Gln237Lys)	SMARCA2 (Q237K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373076	NM_003070.5(SMARCA2):c.3519G>C (p.Arg1173Ser)	SMARCA2 (R1115S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371758	NM_003070.5(SMARCA2):c.4408G>A (p.Asp1470Asn)	SMARCA2 (D128N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371736	NM_003070.5(SMARCA2):c.2190G>T (p.Gln730His)	SMARCA2 (Q730H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370679	NM_003070.5(SMARCA2):c.2628G>T (p.Arg876Ser)	SMARCA2 (R876S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370675	NM_003070.5(SMARCA2):c.3557C>T (p.Ala1186Val)	SMARCA2 (A1128V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369900	NM_003070.5(SMARCA2):c.2806A>G (p.Arg936Gly)	SMARCA2 (R878G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369813	NM_003070.5(SMARCA2):c.4321G>C (p.Glu1441Gln)	SMARCA2 (E127Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369420	NM_003070.5(SMARCA2):c.3629G>A (p.Ser1210Asn)	SMARCA2 (S1152N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369041	NM_003070.5(SMARCA2):c.1454C>T (p.Ala485Val)	SMARCA2 (A485V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368792	NM_003070.5(SMARCA2):c.3716_3733del (p.Leu1239_Ala1244del)	SMARCA2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3368182	NM_003070.5(SMARCA2):c.3733C>T (p.Arg1245Ter)	SMARCA2 (R1187* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3365377	NM_003070.5(SMARCA2):c.3115G>A (p.Val1039Ile)	SMARCA2 (V1039I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365095	NM_003070.5(SMARCA2):c.356-1G>C	SMARCA2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3364960	NM_003070.5(SMARCA2):c.782G>A (p.Arg261Lys)	SMARCA2 (R261K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363810	NM_003070.5(SMARCA2):c.4378A>C (p.Lys1460Gln)	SMARCA2 (K118Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363788	NM_003070.5(SMARCA2):c.2434C>T (p.Arg812Cys)	SMARCA2 (R812C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363682	NM_003070.5(SMARCA2):c.1150C>T (p.Arg384Trp)	SMARCA2 (R384W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363664	NM_003070.5(SMARCA2):c.4282A>G (p.Ile1428Val)	SMARCA2 (I114V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360613	NM_003070.5(SMARCA2):c.2704A>G (p.Ile902Val)	SMARCA2 (I902V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359996	NM_003070.5(SMARCA2):c.246C>A (p.Asp82Glu)	SMARCA2 (D82E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359713	NM_003070.5(SMARCA2):c.1991C>T (p.Pro664Leu)	SMARCA2 (P664L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357256	NM_003070.5(SMARCA2):c.4117G>A (p.Ala1373Thr)	SMARCA2 (A1315T +4 more)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GUncertain significance
Select item 3356096	NM_003070.5(SMARCA2):c.3982-1882dup	SMARCA2	Duplication (intron variant)	SMARCA2-related disorder	GLikely benign
Select item 3355105	NM_003070.5(SMARCA2):c.4643G>C (p.Gly1548Ala)	SMARCA2 (G1472A +5 more)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GUncertain significance
Select item 3349685	NM_003070.5(SMARCA2):c.3456+7A>G	SMARCA2	Single nucleotide variant (intron variant)	SMARCA2-related disorder	GUncertain significance
Select item 3348073	NM_003070.5(SMARCA2):c.4092T>G (p.Ala1364=)	SMARCA2	Single nucleotide variant (synonymous variant)	SMARCA2-related disorder	GLikely benign
Select item 3346845	NM_003070.5(SMARCA2):c.590C>G (p.Pro197Arg)	SMARCA2 (P197R)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GUncertain significance
Select item 3346520	NM_003070.5(SMARCA2):c.2438C>T (p.Ser813Phe)	SMARCA2 (S813F)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GUncertain significance
Select item 3343923	NM_003070.5(SMARCA2):c.3586C>T (p.Gln1196Ter)	SMARCA2 (Q1138* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3343725	NM_003070.5(SMARCA2):c.4426C>G (p.His1476Asp)	SMARCA2 (H134D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343520	NM_003070.5(SMARCA2):c.4100G>C (p.Arg1367Thr)	SMARCA2 (R1309T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342862	NM_003070.5(SMARCA2):c.3202C>T (p.Arg1068Ter)	SMARCA2 (R1010* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3342594	NM_003070.5(SMARCA2):c.883G>T (p.Ala295Ser)	SMARCA2 (A295S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3336343	NM_003070.5(SMARCA2):c.2375T>A (p.Phe792Tyr)	SMARCA2 (F792Y)	Single nucleotide variant (missense variant)	not specified	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 3320677	NM_003070.5(SMARCA2):c.358T>C (p.Tyr120His)	SMARCA2 (Y120H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3320676	NM_003070.5(SMARCA2):c.4536T>G (p.Ser1512Arg)	SMARCA2 (S1512R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320675	NM_003070.5(SMARCA2):c.4145A>T (p.Lys1382Ile)	SMARCA2 (K86I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320674	NM_003070.5(SMARCA2):c.728C>T (p.Pro243Leu)	SMARCA2 (P243L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3320673	NM_003070.5(SMARCA2):c.1770G>A (p.Met590Ile)	SMARCA2 (M590I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257086	NM_003070.5(SMARCA2):c.657GCA[4] (p.Gln238_Pro239insGln)	SMARCA2	Microsatellite (inframe_indel +1 more)	not provided	GLikely benign
Select item 3253530	NM_003070.5(SMARCA2):c.2853G>T (p.Lys951Asn)	SMARCA2 (K893N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3253175	NM_003070.5(SMARCA2):c.4522A>C (p.Lys1508Gln)	SMARCA2 (K1432Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253079	NM_003070.5(SMARCA2):c.3244A>C (p.Met1082Leu)	SMARCA2 (M1024L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252974	NM_003070.5(SMARCA2):c.4471G>T (p.Asp1491Tyr)	SMARCA2 (D1415Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252970	NM_003070.5(SMARCA2):c.4185A>G (p.Ile1395Met)	SMARCA2 (I101M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252450	NM_003070.5(SMARCA2):c.4036C>T (p.Arg1346Ter)	SMARCA2 (R1288* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3252168	NM_003070.5(SMARCA2):c.2639C>T (p.Thr880Ile)	SMARCA2 (T880I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3251409	NM_003070.5(SMARCA2):c.4401G>A (p.Leu1467=)	SMARCA2	Single nucleotide variant (synonymous variant)	not specified	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 3245347	NC_000009.11:g.(?_214977)_(2729727_?)dup	DMRT1, DMRT2 +7 more	Duplication	not provided	GUncertain significance
Select item 3245312	NC_000009.11:g.(?_1911292)_(2192739_?)dup	SMARCA2	Duplication	not provided	GUncertain significance
Select item 3236690	NM_003070.5(SMARCA2):c.4772G>T (p.Ter1591Leu)	SMARCA2	Single nucleotide variant (stop lost)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 3236010	NM_003070.5(SMARCA2):c.2531G>A (p.Arg844Gln)	SMARCA2 (R844Q)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely pathogenic
Select item 3235978	NM_003070.5(SMARCA2):c.3829G>A (p.Glu1277Lys)	SMARCA2 (E1219K +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 3235861	NM_003070.5(SMARCA2):c.4135A>C (p.Asn1379His)	SMARCA2 (N1321H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235180	NM_003070.5(SMARCA2):c.2910G>A (p.Met970Ile)	SMARCA2 (M912I +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 3166278	NM_003070.5(SMARCA2):c.835C>T (p.Pro279Ser)	SMARCA2 (P279S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166276	NM_003070.5(SMARCA2):c.4573G>A (p.Glu1525Lys)	SMARCA2 (E1449K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166275	NM_003070.5(SMARCA2):c.4046G>A (p.Arg1349Gln)	SMARCA2 (R53Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3166273	NM_003070.5(SMARCA2):c.181G>A (p.Gly61Arg)	SMARCA2 (G61R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166272	NM_003070.5(SMARCA2):c.1689G>C (p.Lys563Asn)	SMARCA2 (K563N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148964	NM_003070.5(SMARCA2):c.2831C>T (p.Pro944Leu)	SMARCA2 (P944L +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 3068997	NM_003070.5(SMARCA2):c.733C>G (p.Gln245Glu)	SMARCA2 (Q245E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067858	NM_003070.5(SMARCA2):c.4525G>C (p.Glu1509Gln)	SMARCA2 (E1433Q +5 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 3067568	NM_003070.5(SMARCA2):c.1394A>G (p.Tyr465Cys)	SMARCA2 (Y465C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067498	NM_003070.5(SMARCA2):c.4044A>G (p.Arg1348=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063684	NM_003070.5(SMARCA2):c.1692+3G>C	SMARCA2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3063123	GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063089	GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 3061324	NM_003070.5(SMARCA2):c.1776C>A (p.Asp592Glu)	SMARCA2 (D592E)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GUncertain significance
Select item 3061082	NM_003070.5(SMARCA2):c.1123A>G (p.Lys375Glu)	SMARCA2 (K375E)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GUncertain significance
Select item 3051230	NM_003070.5(SMARCA2):c.4310C>G (p.Pro1437Arg)	SMARCA2 (P123R +5 more)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GUncertain significance
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 3037019	NM_003070.5(SMARCA2):c.762G>A (p.Pro254=)	SMARCA2	Single nucleotide variant (synonymous variant)	SMARCA2-related disorder	GLikely benign
Select item 3036147	NM_003070.5(SMARCA2):c.4494G>A (p.Val1498=)	SMARCA2	Single nucleotide variant (synonymous variant)	SMARCA2-related disorder	GLikely benign
Select item 3034460	NM_003070.5(SMARCA2):c.3101G>A (p.Gly1034Asp)	SMARCA2 (G1034D +1 more)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GLikely pathogenic
Select item 3033513	NM_003070.5(SMARCA2):c.876_878del (p.Ala295del)	SMARCA2 (A295del)	Deletion (inframe_indel +1 more)	SMARCA2-related disorder	GUncertain significance
Select item 3032602	NM_003070.5(SMARCA2):c.3797G>A (p.Arg1266Gln)	SMARCA2 (R1208Q +1 more)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GUncertain significance
Select item 3032463	NM_003070.5(SMARCA2):c.3006T>G (p.Ala1002=)	SMARCA2	Single nucleotide variant (synonymous variant)	SMARCA2-related disorder	GLikely benign
Select item 3032402	NM_003070.5(SMARCA2):c.1046+5C>A	SMARCA2	Single nucleotide variant (intron variant)	SMARCA2-related disorder	GLikely benign
Select item 3031864	NM_003070.5(SMARCA2):c.826C>T (p.Gln276Ter)	SMARCA2 (Q276*)	Single nucleotide variant (nonsense)	SMARCA2-related disorder	GUncertain significance
Select item 3026860	NM_003070.5(SMARCA2):c.1726G>A (p.Ala576Thr)	SMARCA2 (A576T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026297	NM_003070.5(SMARCA2):c.2827A>C (p.Arg943=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022238	NM_003070.5(SMARCA2):c.3126-9dup	SMARCA2	Duplication (intron variant)	not provided	GBenign
Select item 3016763	NM_003070.5(SMARCA2):c.2595G>A (p.Gln865=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3012996	NM_003070.5(SMARCA2):c.2286C>T (p.Leu762=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012995	NM_003070.5(SMARCA2):c.2280T>C (p.Ile760=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011302	NM_003070.5(SMARCA2):c.3078+9G>A	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010726	NM_003070.5(SMARCA2):c.3594G>C (p.Val1198=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010268	NM_003070.5(SMARCA2):c.1521+8del	SMARCA2	Deletion (intron variant)	not provided	GLikely benign
Select item 3004455	NM_003070.5(SMARCA2):c.2992-13C>T	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003703	NM_003070.5(SMARCA2):c.3457-6A>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999436	NM_003070.5(SMARCA2):c.4253+16G>A	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999357	NM_003070.5(SMARCA2):c.3885C>T (p.Thr1295=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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