"PreventionGenetics, part of Exact Sciences"[submitter] AND "SMARCA2"[ - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2632646	NM_003070.5(SMARCA2):c.195C>G (p.Phe65Leu)	SMARCA2 (F65L)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GUncertain significance
Select item 588943	NM_003070.5(SMARCA2):c.210G>A (p.Met70Ile)	SMARCA2 (M70I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 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)	Blepharophimosis-impaired intellectual development syndrome +4 more	GBenign/Likely 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 3037019	NM_003070.5(SMARCA2):c.762G>A (p.Pro254=)	SMARCA2	Single nucleotide variant (synonymous 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 588156	NM_003070.5(SMARCA2):c.844G>A (p.Ala282Thr)	SMARCA2 (A282T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
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 3032402	NM_003070.5(SMARCA2):c.1046+5C>A	SMARCA2	Single nucleotide variant (intron variant)	SMARCA2-related disorder	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 3061082	NM_003070.5(SMARCA2):c.1123A>G (p.Lys375Glu)	SMARCA2 (K375E)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GUncertain significance
Select item 1753893	NM_003070.5(SMARCA2):c.1224G>A (p.Thr408=)	SMARCA2	Single nucleotide variant (synonymous variant)	SMARCA2-related disorder +1 more	GLikely 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 1294473	NM_003070.5(SMARCA2):c.1510C>A (p.Arg504=)	SMARCA2	Single nucleotide variant (synonymous variant)	SMARCA2-related disorder +1 more	GBenign/Likely benign
Select item 992996	NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr)	SMARCA2 (I518T)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GLikely pathogenic
Select item 2635647	NM_003070.5(SMARCA2):c.1571G>A (p.Arg524Lys)	SMARCA2 (R524K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 366206	NM_003070.5(SMARCA2):c.1737G>A (p.Pro579=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 366210	NM_003070.5(SMARCA2):c.1962G>A (p.Gln654=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1327677	NM_003070.5(SMARCA2):c.2211C>T (p.Ser737=)	SMARCA2	Single nucleotide variant (synonymous variant)	SMARCA2-related disorder +1 more	GLikely benign
Select item 1981114	NM_003070.5(SMARCA2):c.2232C>T (p.Asn744=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1701561	NM_003070.5(SMARCA2):c.2348+3A>G	SMARCA2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1277235	NM_003070.5(SMARCA2):c.2349-10del	SMARCA2	Deletion (intron variant)	not provided +1 more	GBenign
Select item 451779	NM_003070.5(SMARCA2):c.2420C>T (p.Thr807Ile)	SMARCA2 (T807I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2998221	NM_003070.5(SMARCA2):c.2550G>T (p.Val850=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 366213	NM_003070.5(SMARCA2):c.2770-7C>G	SMARCA2	Single nucleotide variant (intron variant)	Nicolaides-Baraitser syndrome +2 more	GBenign
Select item 2150818	NM_003070.5(SMARCA2):c.2884-4G>A	SMARCA2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1327235	NM_003070.5(SMARCA2):c.2931G>A (p.Leu977=)	SMARCA2	Single nucleotide variant (synonymous variant)	SMARCA2-related disorder +1 more	GBenign/Likely benign
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 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 2698159	NM_003070.5(SMARCA2):c.3125+5A>G	SMARCA2	Single nucleotide variant (intron variant)	SMARCA2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 810345	NM_003070.5(SMARCA2):c.3314G>T (p.Arg1105Leu)	SMARCA2 (R1105L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2374771	NM_003070.5(SMARCA2):c.3344C>T (p.Pro1115Leu)	SMARCA2 (P1115L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1304563	NM_003070.5(SMARCA2):c.3510G>T (p.Arg1170=)	SMARCA2	Single nucleotide variant (synonymous variant)	SMARCA2-related disorder +1 more	GBenign/Likely benign
Select item 366221	NM_003070.5(SMARCA2):c.3685-6C>A	SMARCA2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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 588558	NM_003070.5(SMARCA2):c.3843C>T (p.Pro1281=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2636315	NM_003070.5(SMARCA2):c.3879G>T (p.Arg1293Ser)	SMARCA2 (R1235S +1 more)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GUncertain significance
Select item 366222	NM_003070.5(SMARCA2):c.3939C>T (p.Asp1313=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2636947	NM_003070.5(SMARCA2):c.3982-3795G>A	SMARCA2	Single nucleotide variant (intron variant +1 more)	SMARCA2-related disorder	GUncertain significance
Select item 588141	NM_003070.5(SMARCA2):c.4200-4G>A	SMARCA2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 366232	NM_003070.5(SMARCA2):c.4207G>A (p.Val1403Met)	SMARCA2 (V1403M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 366236	NM_003070.5(SMARCA2):c.4257A>C (p.Ser1419=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 2503993	NM_003070.5(SMARCA2):c.4344T>G (p.Asp1448Glu)	SMARCA2 (D106E +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 366324	NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn)	SMARCA2 (D1573N +5 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +4 more	GBenign/Likely benign

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Items: 50