SMARCC1[Gene Name] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 2289016	NM_003074.4(SMARCC1):c.3236A>G (p.Gln1079Arg)	SMARCC1 (Q1079R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2690046	NM_003074.4(SMARCC1):c.3224C>A (p.Pro1075His)	SMARCC1 (P1075H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2401206	NM_003074.4(SMARCC1):c.3211A>G (p.Asn1071Asp)	SMARCC1 (N1071D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547481	NM_003074.4(SMARCC1):c.3109G>C (p.Val1037Leu)	SMARCC1 (V1037L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2690045	NM_003074.4(SMARCC1):c.3095G>A (p.Arg1032His)	SMARCC1 (R1032H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2230318	NM_003074.4(SMARCC1):c.3065C>G (p.Ser1022Cys)	SMARCC1 (S1022C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2690047	NM_003074.4(SMARCC1):c.3059del (p.Pro1020fs)	SMARCC1 (P1020fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1177321	NM_003074.4(SMARCC1):c.3013C>T (p.Gln1005Ter)	SMARCC1 (Q1005*)	Single nucleotide variant (nonsense)	SMARCC1-associated developmental dysgenesis syndrome	GUncertain significance
Select item 3166324	NM_003074.4(SMARCC1):c.2970G>T (p.Met990Ile)	SMARCC1 (M990I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2637271	NM_003074.4(SMARCC1):c.2922dup (p.Gly975fs)	SMARCC1 (G975fs)	Duplication (frameshift variant)	SMARCC1-related disorder	GUncertain significance
Select item 3166322	NM_003074.4(SMARCC1):c.2884C>G (p.Gln962Glu)	SMARCC1 (Q962E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320410	NM_003074.4(SMARCC1):c.2846A>G (p.Tyr949Cys)	SMARCC1 (Y949C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288423	NM_003074.4(SMARCC1):c.2827C>T (p.His943Tyr)	SMARCC1 (H943Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036852	NM_003074.4(SMARCC1):c.2782-8G>C	SMARCC1	Single nucleotide variant (intron variant)	SMARCC1-related disorder	GLikely benign
Select item 2633230	NM_003074.4(SMARCC1):c.2767A>G (p.Arg923Gly)	SMARCC1 (R923G)	Single nucleotide variant (missense variant)	SMARCC1-related disorder	GUncertain significance
Select item 1321260	NM_003074.4(SMARCC1):c.2693_2696delinsC (p.Leu898_Leu899delinsPro)	SMARCC1	Indel (inframe_indel)	Global developmental delay	GLikely pathogenic
Select item 684692	NM_003074.4(SMARCC1):c.2672del (p.Lys891fs)	SMARCC1 (K891fs)	Deletion (frameshift variant)	Congenital hydrocephalus +1 more	GLikely pathogenic; risk factor
Select item 2595551	NM_003074.4(SMARCC1):c.2656G>T (p.Ala886Ser)	SMARCC1 (A886S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166321	NM_003074.4(SMARCC1):c.2599G>A (p.Ala867Thr)	SMARCC1 (A867T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485544	NM_003074.4(SMARCC1):c.2591G>A (p.Gly864Glu)	SMARCC1 (G864E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2632948	NM_003074.4(SMARCC1):c.2533dup (p.Cys845fs)	SMARCC1 (C845fs)	Duplication (frameshift variant)	SMARCC1-related disorder	GUncertain significance
Select item 2295256	NM_003074.4(SMARCC1):c.2533T>C (p.Cys845Arg)	SMARCC1 (C845R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1177322	NM_003074.4(SMARCC1):c.2464del (p.Ser822fs)	SMARCC1 (S822fs)	Deletion (frameshift variant)	SMARCC1-associated developmental dysgenesis syndrome	GUncertain significance
Select item 2313814	NM_003074.4(SMARCC1):c.2431G>A (p.Glu811Lys)	SMARCC1 (E811K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320824	NM_003074.4(SMARCC1):c.2429G>A (p.Gly810Glu)	SMARCC1 (G810E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 635382	NM_003074.4(SMARCC1):c.2376+2T>C	SMARCC1	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 3032608	NM_003074.4(SMARCC1):c.2367G>A (p.Gln789=)	SMARCC1	Single nucleotide variant (synonymous variant)	SMARCC1-related disorder	GLikely benign
Select item 2613490	NM_003074.4(SMARCC1):c.2318T>C (p.Leu773Pro)	SMARCC1 (L773P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044615	NM_003074.4(SMARCC1):c.2239G>A (p.Ala747Thr)	SMARCC1 (A747T)	Single nucleotide variant (missense variant)	SMARCC1-related disorder	GLikely benign
Select item 2429857	NM_003074.4(SMARCC1):c.2236C>T (p.Arg746Ter)	SMARCC1 (R746*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GUncertain significance
Select item 2458949	NM_003074.4(SMARCC1):c.2231C>G (p.Ala744Gly)	SMARCC1 (A744G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400831	NM_003074.4(SMARCC1):c.2177G>A (p.Arg726Gln)	SMARCC1 (R726Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166320	NM_003074.4(SMARCC1):c.2176C>T (p.Arg726Trp)	SMARCC1 (R726W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255398	NM_003074.4(SMARCC1):c.2128G>A (p.Val710Met)	SMARCC1 (V710M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327655	NM_003074.4(SMARCC1):c.1955G>A (p.Arg652His)	SMARCC1 (R652H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055202	NM_003074.4(SMARCC1):c.1747C>T (p.Leu583=)	SMARCC1	Single nucleotide variant (synonymous variant)	SMARCC1-related disorder	GLikely benign
Select item 2443869	NM_003074.4(SMARCC1):c.1723C>T (p.Gln575Ter)	SMARCC1	Single nucleotide variant (nonsense)	Hydrocephalus, congenital, 5, susceptibility to	Grisk factor
Select item 795050	NM_003074.4(SMARCC1):c.1674A>G (p.Val558=)	SMARCC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3038269	NM_003074.4(SMARCC1):c.1635C>T (p.Pro545=)	SMARCC1	Single nucleotide variant (synonymous variant)	SMARCC1-related disorder	GLikely benign
Select item 3339960	NM_003074.4(SMARCC1):c.1614A>C (p.Gln538His)	SMARCC1 (Q538H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634699	NM_003074.4(SMARCC1):c.1603G>A (p.Val535Ile)	SMARCC1 (V535I)	Single nucleotide variant (missense variant)	SMARCC1-related disorder	GUncertain significance
Select item 684690	NM_003074.4(SMARCC1):c.1589_1590insAGTGGGGACTC (p.Gln531fs)	SMARCC1 (Q531fs)	Insertion (frameshift variant)	Congenital hydrocephalus	GLikely pathogenic
Select item 684691	NM_003074.4(SMARCC1):c.1577A>C (p.His526Pro)	SMARCC1 (H526P)	Single nucleotide variant (missense variant)	Congenital hydrocephalus +1 more	GLikely pathogenic; risk factor
Select item 2443870	NM_003074.4(SMARCC1):c.1571+1G>A	SMARCC1	Single nucleotide variant (splice donor variant)	Hydrocephalus, congenital, 5, susceptibility to	Grisk factor
Select item 3235748	NM_003074.4(SMARCC1):c.1317dup (p.Asp440fs)	SMARCC1 (D440fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2514281	NM_003074.4(SMARCC1):c.1313G>C (p.Gly438Ala)	SMARCC1 (G438A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166319	NM_003074.4(SMARCC1):c.1309C>T (p.Leu437Phe)	SMARCC1 (L437F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243958	NM_003074.4(SMARCC1):c.1304T>C (p.Val435Ala)	SMARCC1 (V435A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507627	NM_003074.4(SMARCC1):c.1283A>G (p.Lys428Arg)	SMARCC1 (K428R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552213	NM_003074.4(SMARCC1):c.1282A>C (p.Lys428Gln)	SMARCC1 (K428Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 684694	NM_003074.4(SMARCC1):c.1242_1243dup (p.Thr415fs)	SMARCC1 (T415fs)	Duplication (frameshift variant)	Congenital hydrocephalus	GLikely pathogenic
Select item 2361567	NM_003074.4(SMARCC1):c.1109A>T (p.Asp370Val)	SMARCC1 (D370V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166318	NM_003074.4(SMARCC1):c.1018C>T (p.Arg340Trp)	SMARCC1 (R340W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048228	NM_003074.4(SMARCC1):c.1009A>G (p.Thr337Ala)	SMARCC1 (T337A)	Single nucleotide variant (missense variant)	SMARCC1-related disorder	GLikely benign
Select item 2370299	NM_003074.4(SMARCC1):c.1001C>T (p.Pro334Leu)	SMARCC1 (P334L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234167	NM_003074.4(SMARCC1):c.998C>T (p.Pro333Leu)	SMARCC1 (P333L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320831	NM_003074.4(SMARCC1):c.997C>T (p.Pro333Ser)	SMARCC1 (P333S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598682	NM_003074.4(SMARCC1):c.994C>T (p.Pro332Ser)	SMARCC1 (P332S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025780	NM_003074.4(SMARCC1):c.967C>T (p.Arg323Ter)	SMARCC1 (R323*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3039030	NM_003074.4(SMARCC1):c.945T>C (p.Asp315=)	SMARCC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2357109	NM_003074.4(SMARCC1):c.802A>G (p.Lys268Glu)	SMARCC1 (K268E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166328	NM_003074.4(SMARCC1):c.758T>C (p.Ile253Thr)	SMARCC1 (I253T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496193	NM_003074.4(SMARCC1):c.656T>G (p.Leu219Trp)	SMARCC1 (L219W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057647	NM_003074.4(SMARCC1):c.642C>T (p.Asp214=)	SMARCC1	Single nucleotide variant (synonymous variant)	SMARCC1-related disorder	GLikely benign
Select item 2328999	NM_003074.4(SMARCC1):c.625T>C (p.Tyr209His)	SMARCC1 (Y209H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320828	NM_003074.4(SMARCC1):c.604G>T (p.Ala202Ser)	SMARCC1 (A202S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166326	NM_003074.4(SMARCC1):c.602A>G (p.Lys201Arg)	SMARCC1 (K201R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653766	NM_003074.4(SMARCC1):c.576+7G>C	SMARCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2204028	NM_003074.4(SMARCC1):c.569G>A (p.Arg190Gln)	SMARCC1 (R190Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3337601	NM_003074.4(SMARCC1):c.559A>G (p.Ile187Val)	SMARCC1 (I187V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 684693	NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter)	SMARCC1 (K179*)	Single nucleotide variant (nonsense)	Congenital hydrocephalus	GLikely pathogenic
Select item 3320825	NM_003074.4(SMARCC1):c.526A>G (p.Ile176Val)	SMARCC1 (I176V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056323	NM_003074.4(SMARCC1):c.488A>G (p.Asn163Ser)	SMARCC1 (N163S)	Single nucleotide variant (missense variant)	SMARCC1-related disorder	GBenign
Select item 3320826	NM_003074.4(SMARCC1):c.430C>T (p.Arg144Ter)	SMARCC1 (R144*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2276391	NM_003074.4(SMARCC1):c.403C>T (p.Arg135Trp)	SMARCC1 (R135W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621761	NM_003074.4(SMARCC1):c.349G>A (p.Ala117Thr)	SMARCC1 (A117T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3166325	NM_003074.4(SMARCC1):c.320A>G (p.Lys107Arg)	SMARCC1 (K107R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166323	NM_003074.4(SMARCC1):c.296C>T (p.Pro99Leu)	SMARCC1 (P99L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538832	NM_003074.4(SMARCC1):c.286G>T (p.Val96Phe)	SMARCC1 (V96F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320827	NM_003074.4(SMARCC1):c.221A>G (p.Asn74Ser)	SMARCC1 (N74S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248548	NM_003074.4(SMARCC1):c.191A>G (p.Lys64Arg)	SMARCC1 (K64R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340510	NM_003074.4(SMARCC1):c.161C>T (p.Ser54Leu)	SMARCC1 (S54L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3041060	NM_003074.4(SMARCC1):c.135C>T (p.Ser45=)	SMARCC1	Single nucleotide variant (synonymous variant)	SMARCC1-related disorder	GLikely benign
Select item 3320829	NM_003074.4(SMARCC1):c.73G>A (p.Ala25Thr)	SMARCC1 (A25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363062	NM_003074.4(SMARCC1):c.71C>T (p.Ala24Val)	SMARCC1 (A24V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050649	NM_003074.4(SMARCC1):c.-10_-9del	LOC112935944, SMARCC1	Deletion (5 prime UTR variant)	SMARCC1-related disorder	GLikely benign
Select item 3042633	NM_003074.4(SMARCC1):c.-10_-9insCC	LOC112935944, SMARCC1	Insertion (5 prime UTR variant)	SMARCC1-related disorder	GLikely benign
Select item 3062731	GRCh37/hg19 3p21.31(chr3:47405305-47880799)x3	CSPG5, DHX30 +4 more	Copy number gain	not specified	GUncertain significance
Select item 2685917	GRCh37/hg19 3p21.31(chr3:47720958-48490193)x3	ATRIP, CAMP +11 more	Copy number gain	not provided	GUncertain significance
Select item 2426158	NC_000003.11:g.(?_47422587)_(47919033_?)dup	CSPG5, DHX30 +5 more	Duplication	not provided	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 687533	GRCh37/hg19 3p21.31(chr3:47799614-48359988)x3	CAMP, CDC25A +6 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 1177324	NM_003074.4:c.402-?_483+?del	SMARCC1	Deletion	SMARCC1-associated developmental dysgenesis syndrome	GUncertain significance
Select item 1177323	NM_003074.4:c.402-?_646+?del	SMARCC1	Deletion	SMARCC1-associated developmental dysgenesis syndrome	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 100