ClinVar for Gene (Select 6595) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ABCA1, ABCA2 +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 condition	GUncertain significance
Select item 3061082	NM_003070.5(SMARCA2):c.1123A>G (p.Lys375Glu)	SMARCA2 (K375E)	Single nucleotide variant (missense variant)	SMARCA2-related condition	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 condition	GUncertain significance
Select item 3040463	NM_003070.5(SMARCA2):c.215A>C (p.Gln72Pro)	SMARCA2 (Q72P)	Single nucleotide variant (missense variant)	SMARCA2-related condition	GUncertain significance
Select item 3037019	NM_003070.5(SMARCA2):c.762G>A (p.Pro254=)	SMARCA2	Single nucleotide variant (synonymous variant)	SMARCA2-related condition	GLikely benign
Select item 3036147	NM_003070.5(SMARCA2):c.4494G>A (p.Val1498=)	SMARCA2	Single nucleotide variant (synonymous variant)	SMARCA2-related condition	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 condition	GLikely pathogenic
Select item 3033513	NM_003070.5(SMARCA2):c.876_878del (p.Ala295del)	SMARCA2 (A295del)	Deletion (inframe_indel +1 more)	SMARCA2-related condition	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 condition	GUncertain significance
Select item 3032463	NM_003070.5(SMARCA2):c.3006T>G (p.Ala1002=)	SMARCA2	Single nucleotide variant (synonymous variant)	SMARCA2-related condition	GLikely benign
Select item 3032402	NM_003070.5(SMARCA2):c.1046+5C>A	SMARCA2	Single nucleotide variant (intron variant)	SMARCA2-related condition	GLikely benign
Select item 3031864	NM_003070.5(SMARCA2):c.826C>T (p.Gln276Ter)	SMARCA2 (Q276*)	Single nucleotide variant (nonsense)	SMARCA2-related condition	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
Select item 2999287	NM_003070.5(SMARCA2):c.4760C>T (p.Thr1587Met)	SMARCA2 (T273M +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2998221	NM_003070.5(SMARCA2):c.2550G>T (p.Val850=)	SMARCA2	Single nucleotide variant (synonymous variant)	SMARCA2-related condition +1 more	GLikely benign
Select item 2998197	NM_003070.5(SMARCA2):c.3300C>T (p.Thr1100=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997777	NM_003070.5(SMARCA2):c.1521+15G>T	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997605	NM_003070.5(SMARCA2):c.2415+18T>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997065	NM_003070.5(SMARCA2):c.1692+20T>C	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997064	NM_003070.5(SMARCA2):c.1692+12_1692+13delinsGT	SMARCA2	Indel (intron variant)	not provided	GBenign
Select item 2993074	NM_003070.5(SMARCA2):c.1746+20T>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992077	NM_003070.5(SMARCA2):c.2526+11A>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2988736	NM_003070.5(SMARCA2):c.2992-20C>T	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988515	NM_003070.5(SMARCA2):c.3125+16T>A	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987006	NM_003070.5(SMARCA2):c.2991+5G>A	SMARCA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2985797	NM_003070.5(SMARCA2):c.3294C>T (p.Gly1098=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2984218	NM_003070.5(SMARCA2):c.4644_4655del (p.Arg1549_Gly1552del)	SMARCA2	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
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 2984035	NM_003070.5(SMARCA2):c.4737+17G>C	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983157	NM_003070.5(SMARCA2):c.4758G>T (p.Gly1586=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983089	NM_003070.5(SMARCA2):c.1434A>G (p.Lys478=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982373	NM_003070.5(SMARCA2):c.2814A>G (p.Leu938=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982131	NM_003070.5(SMARCA2):c.4540G>C (p.Asp1514His)	SMARCA2 (D1496H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981677	NM_003070.5(SMARCA2):c.4738-14_4738-11dup	SMARCA2	Duplication (intron variant)	not provided	GLikely benign
Select item 2980364	NM_003070.5(SMARCA2):c.2400G>T (p.Val800=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2978155	NM_003070.5(SMARCA2):c.2019T>C (p.Asp673=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977851	NM_003070.5(SMARCA2):c.1890C>A (p.Ala630=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977434	NM_003070.5(SMARCA2):c.2295T>C (p.Tyr765=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977049	NM_003070.5(SMARCA2):c.4583C>T (p.Ser1528Leu)	SMARCA2 (S1528L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976873	NM_003070.5(SMARCA2):c.1878-19C>T	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976645	NM_003070.5(SMARCA2):c.4585G>C (p.Glu1529Gln)	SMARCA2 (E1529Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974916	NM_003070.5(SMARCA2):c.4594+17G>A	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973966	NM_003070.5(SMARCA2):c.3705C>T (p.Asp1235=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973004	NM_003070.5(SMARCA2):c.4737+11C>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972731	NM_003070.5(SMARCA2):c.4738-15T>C	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970619	NM_003070.5(SMARCA2):c.2991+9C>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968247	NM_003070.5(SMARCA2):c.2526+19A>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967793	NM_003070.5(SMARCA2):c.3293-11G>C	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966525	NM_003070.5(SMARCA2):c.836C>A (p.Pro279Gln)	SMARCA2 (P279Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966065	NM_003070.5(SMARCA2):c.3648C>T (p.Phe1216=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965864	NM_003070.5(SMARCA2):c.1936-10C>T	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965062	NM_003070.5(SMARCA2):c.1680G>A (p.Arg560=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962084	NM_003070.5(SMARCA2):c.3528C>G (p.Thr1176=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961258	NM_003070.5(SMARCA2):c.2859A>G (p.Glu953=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959894	NM_003070.5(SMARCA2):c.4239A>G (p.Glu1413=)	SMARCA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957729	NM_003070.5(SMARCA2):c.1818G>T (p.Leu606=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2956090	NM_003070.5(SMARCA2):c.2955G>C (p.Gly985=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954859	NM_003070.5(SMARCA2):c.4738-12T>C	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914176	NM_003070.5(SMARCA2):c.1821C>T (p.Phe607=)	SMARCA2	Single nucleotide variant (synonymous 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 2912402	NM_003070.5(SMARCA2):c.1935+10T>C	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912163	NM_003070.5(SMARCA2):c.1173+10T>A	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906563	NM_003070.5(SMARCA2):c.355+10C>T	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900113	NM_003070.5(SMARCA2):c.3918G>A (p.Arg1306=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899688	NM_003070.5(SMARCA2):c.810C>T (p.Ser270=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898570	NM_003070.5(SMARCA2):c.3528C>T (p.Thr1176=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889140	NM_003070.5(SMARCA2):c.2991+9C>T	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885932	NM_003070.5(SMARCA2):c.2991+4C>T	SMARCA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2881972	NM_003070.5(SMARCA2):c.849C>T (p.Pro283=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2880434	NM_003070.5(SMARCA2):c.4359+6T>C	SMARCA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2879514	NM_003070.5(SMARCA2):c.1693-15A>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877170	NM_003070.5(SMARCA2):c.3420A>T (p.Thr1140=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875326	NM_003070.5(SMARCA2):c.865C>T (p.Pro289Ser)	SMARCA2 (P289S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871961	NM_003070.5(SMARCA2):c.1046+7C>T	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871247	NM_003070.5(SMARCA2):c.841C>A (p.Pro281Thr)	SMARCA2 (P281T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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