SMARCC1[gene] - ClinVar

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Items: 80

	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 2637271	NM_003074.4(SMARCC1):c.2922dup (p.Gly975fs)	SMARCC1 (G975fs)	Duplication (frameshift variant)	SMARCC1-related condition	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 condition	GLikely benign
Select item 2633230	NM_003074.4(SMARCC1):c.2767A>G (p.Arg923Gly)	SMARCC1 (R923G)	Single nucleotide variant (missense variant)	SMARCC1-related condition	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 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 condition	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 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 condition	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 condition	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 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 condition	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 condition	GLikely benign
Select item 2634699	NM_003074.4(SMARCC1):c.1603G>A (p.Val535Ile)	SMARCC1 (V535I)	Single nucleotide variant (missense variant)	SMARCC1-related condition	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 2514281	NM_003074.4(SMARCC1):c.1313G>C (p.Gly438Ala)	SMARCC1 (G438A)	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 3048228	NM_003074.4(SMARCC1):c.1009A>G (p.Thr337Ala)	SMARCC1 (T337A)	Single nucleotide variant (missense variant)	SMARCC1-related condition	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 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)	SMARCC1-related condition	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 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 condition	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 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 684693	NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter)	SMARCC1 (K179*)	Single nucleotide variant (nonsense)	Congenital hydrocephalus	GLikely pathogenic
Select item 3056323	NM_003074.4(SMARCC1):c.488A>G (p.Asn163Ser)	SMARCC1 (N163S)	Single nucleotide variant (missense variant)	SMARCC1-related condition	GBenign
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 2538832	NM_003074.4(SMARCC1):c.286G>T (p.Val96Phe)	SMARCC1 (V96F)	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 condition	GLikely benign
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 condition	GLikely benign
Select item 3042633	NM_003074.4(SMARCC1):c.-10_-9insCC	LOC112935944, SMARCC1	Insertion (5 prime UTR variant)	SMARCC1-related condition	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	ALS2CL, ARIH2 +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)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +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

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Items: 80