6599[Gene ID] - ClinVar - NCBI

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	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 3352481	NM_003074.4(SMARCC1):c.3123C>T (p.Ile1041=)	SMARCC1	Single nucleotide variant (synonymous variant)	SMARCC1-related disorder	GLikely benign
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 3363454	NM_003074.4(SMARCC1):c.2781+2dup	SMARCC1	Duplication (splice donor variant)	not provided	GUncertain significance
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 3342426	NM_003074.4(SMARCC1):c.2754A>C (p.Glu918Asp)	SMARCC1 (E918D)	Single nucleotide variant (missense variant)	not provided	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 3342760	NM_003074.4(SMARCC1):c.2671_2674del (p.Lys891fs)	SMARCC1 (K891fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
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 3343030	NM_003074.4(SMARCC1):c.2162_2163insAA (p.Phe722fs)	SMARCC1 (F722fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 3369018	NM_003074.4(SMARCC1):c.2159-1G>C	SMARCC1	Single nucleotide variant (splice acceptor variant)	not provided	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 3342482	NM_003074.4(SMARCC1):c.2024A>G (p.Asp675Gly)	SMARCC1 (D675G)	Single nucleotide variant (missense variant)	not provided	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 3363833	NM_003074.4(SMARCC1):c.1436del (p.Asn479fs)	SMARCC1 (N479fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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	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 3344887	NM_003074.4(SMARCC1):c.560TCA[1] (p.Ile188del)	SMARCC1 (I188del)	Microsatellite (inframe_deletion)	SMARCC1-related disorder	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 3342490	NM_003074.4(SMARCC1):c.408G>T (p.Arg136Ser)	SMARCC1 (R136S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

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