"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SMARCA2"[g - ClinVar

Search results

Items: 84

	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)	SMARCA2-related condition +3 more	GBenign/Likely benign
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 2659027	NM_003070.5(SMARCA2):c.193T>C (p.Phe65Leu)	SMARCA2 (F65L)	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)	SMARCA2-related condition +2 more	GBenign/Likely 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 126350	NM_003070.5(SMARCA2):c.482C>T (p.Pro161Leu)	SMARCA2 (P161L)	Single nucleotide variant (missense variant)	Coffin Siris/Intellectual Disability +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 specified +3 more	GBenign/Likely 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 1366910	NM_003070.5(SMARCA2):c.669GCA[7] (p.Gln233_Gln238del)	SMARCA2	Microsatellite (inframe_deletion +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 588716	NM_003070.5(SMARCA2):c.669GCA[9] (p.Gln235_Gln238del)	SMARCA2	Microsatellite (inframe_indel +1 more)	Inborn genetic diseases +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 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)	not specified +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 912949	NM_003070.5(SMARCA2):c.689A>C (p.Gln230Pro)	SMARCA2 (Q230P)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +2 more	GBenign/Likely benign
Select item 366200	NM_003070.5(SMARCA2):c.695A>C (p.Gln232Pro)	SMARCA2 (Q232P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 366202	NM_003070.5(SMARCA2):c.708A>G (p.Gln236=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome +1 more	GBenign/Likely benign
Select item 912952	NM_003070.5(SMARCA2):c.734A>T (p.Gln245Leu)	SMARCA2 (Q245L)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +1 more	GBenign
Select item 913313	NM_003070.5(SMARCA2):c.750A>T (p.Gln250His)	SMARCA2 (Q250H)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +2 more	GLikely benign
Select item 2659029	NM_003070.5(SMARCA2):c.761C>T (p.Pro254Leu)	SMARCA2 (P254L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659030	NM_003070.5(SMARCA2):c.811G>C (p.Gly271Arg)	SMARCA2 (G271R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676117	NM_003070.5(SMARCA2):c.816G>A (p.Pro272=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659031	NM_003070.5(SMARCA2):c.846G>T (p.Ala282=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1701559	NM_003070.5(SMARCA2):c.874C>T (p.Pro292Ser)	SMARCA2 (P292S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2585430	NM_003070.5(SMARCA2):c.875C>T (p.Pro292Leu)	SMARCA2 (P292L)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1701560	NM_003070.5(SMARCA2):c.993C>T (p.Ile331=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335724	NM_003070.5(SMARCA2):c.1035G>A (p.Glu345=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 916365	NM_003070.5(SMARCA2):c.1279C>T (p.Arg427Cys)	SMARCA2 (R427C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810343	NM_003070.5(SMARCA2):c.1325G>A (p.Arg442Lys)	SMARCA2 (R442K)	Single nucleotide variant (missense variant)	not provided	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 810344	NM_003070.5(SMARCA2):c.1408G>T (p.Ala470Ser)	SMARCA2 (A470S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 366205	NM_003070.5(SMARCA2):c.1422G>A (p.Gln474=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 2659032	NM_003070.5(SMARCA2):c.1758G>C (p.Glu586Asp)	SMARCA2 (E586D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212224	NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 2659033	NM_003070.5(SMARCA2):c.1968C>T (p.Thr656=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1269159	NM_003070.5(SMARCA2):c.1983C>A (p.Leu661=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 588159	NM_003070.5(SMARCA2):c.2136G>A (p.Val712=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 366211	NM_003070.5(SMARCA2):c.2349-3T>C	SMARCA2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1176896	NM_003070.5(SMARCA2):c.2425G>C (p.Ala809Pro)	SMARCA2 (A809P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579056	NM_003070.5(SMARCA2):c.2604C>T (p.Asn868=)	SMARCA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1176897	NM_003070.5(SMARCA2):c.2639C>A (p.Thr880Asn)	SMARCA2 (T880N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1920459	NM_003070.5(SMARCA2):c.2643G>C (p.Gly881=)	SMARCA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1794279	NM_003070.5(SMARCA2):c.2649G>A (p.Pro883=)	SMARCA2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 588361	NM_003070.5(SMARCA2):c.2733A>G (p.Gln911=)	SMARCA2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 3026297	NM_003070.5(SMARCA2):c.2827A>C (p.Arg943=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1728262	NM_003070.5(SMARCA2):c.3159G>A (p.Glu1053=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 436799	NM_003070.5(SMARCA2):c.3192G>A (p.Ala1064=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 68769	NM_003070.5(SMARCA2):c.3313C>T (p.Arg1105Cys)	SMARCA2 (R1105C +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +1 more	GPathogenic
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 810346	NM_003070.5(SMARCA2):c.3379A>G (p.Arg1127Gly)	SMARCA2 (R1127G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 366220	NM_003070.5(SMARCA2):c.3438C>T (p.Ser1146=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome +2 more	GBenign/Likely benign
Select item 2659034	NM_003070.5(SMARCA2):c.3457-7C>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 30014	NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His)	SMARCA2 (R1162H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1299136	NM_003070.5(SMARCA2):c.3490G>A (p.Gly1164Arg)	SMARCA2 (G1106R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 588117	NM_003070.5(SMARCA2):c.3555C>T (p.Leu1185=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2673166	NM_003070.5(SMARCA2):c.3661T>C (p.Leu1221=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 810347	NM_003070.5(SMARCA2):c.3729T>A (p.Ile1243=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659035	NM_003070.5(SMARCA2):c.3982-1108A>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 366231	NM_003070.5(SMARCA2):c.4029T>G (p.Leu1343=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome +2 more	GBenign/Likely benign
Select item 3067498	NM_003070.5(SMARCA2):c.4044A>G (p.Arg1348=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 872499	NM_003070.5(SMARCA2):c.4103G>A (p.Arg1368Lys)	SMARCA2 (R1368K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 588141	NM_003070.5(SMARCA2):c.4200-4G>A	SMARCA2	Single nucleotide variant (intron variant)	SMARCA2-related condition +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)	SMARCA2-related condition +3 more	GBenign/Likely benign
Select item 1337262	NM_003070.5(SMARCA2):c.4218G>A (p.Val1406=)	SMARCA2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 810348	NM_003070.5(SMARCA2):c.4275A>G (p.Glu1425=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 374420	NM_003070.5(SMARCA2):c.4364G>C (p.Arg1455Thr)	SMARCA2 (R1455T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879729	NM_003070.5(SMARCA2):c.4377T>C (p.His1459=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1879730	NM_003070.5(SMARCA2):c.4471G>C (p.Asp1491His)	SMARCA2 (D1415H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 914528	NM_003070.5(SMARCA2):c.4479C>T (p.Ile1493=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 810349	NM_003070.5(SMARCA2):c.4508G>A (p.Arg1503Gln)	SMARCA2 (R161Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695242	NM_003070.5(SMARCA2):c.4528G>C (p.Glu1510Gln)	SMARCA2 (E1434Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579057	NM_003070.5(SMARCA2):c.4560GGAAGA[1] (p.Glu1522_Glu1523del)	SMARCA2	Microsatellite (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1701562	NM_003070.5(SMARCA2):c.4572_4577del (p.Asp1524_Glu1525del)	SMARCA2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 366320	NM_003070.5(SMARCA2):c.4595-7G>C	SMARCA2	Single nucleotide variant (intron variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GBenign/Likely benign
Select item 366322	NM_003070.5(SMARCA2):c.4699G>C (p.Val1567Leu)	SMARCA2 (V1567L +5 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +2 more	GBenign/Likely benign
Select item 366324	NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn)	SMARCA2 (D1573N +5 more)	Single nucleotide variant (missense variant)	SMARCA2-related condition +4 more	GBenign/Likely benign
Select item 872500	NM_003070.5(SMARCA2):c.4738-7C>T	SMARCA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 366327	NM_003070.5(SMARCA2):c.4761G>A (p.Thr1587=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome +2 more	GBenign/Likely benign

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Items: 84