6664[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC126806115, LOC126806116 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 144513	GRCh38/hg38 2p25.2-25.1(chr2:4416714-7632837)x1	CMPK2, GRASLND +50 more	Copy number loss	See cases	GLikely pathogenic
Select item 154264	GRCh38/hg38 2p25.2(chr2:4774924-5869968)x1	LINC01248, LINC01810 +7 more	Copy number loss	See cases	GPathogenic
Select item 1270826	NM_003108.4(SOX11):c.-220C>A	SOX11	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1177695	NM_003108.4(SOX11):c.-187T>C	SOX11	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1210901	NM_003108.4(SOX11):c.-148G>C	SOX11	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3167701	NM_003108.4(SOX11):c.22_36del (p.Leu8_Ser12del)	SOX11	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2901199	NM_003108.4(SOX11):c.14C>A (p.Ala5Glu)	SOX11 (A5E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1718030	NM_003108.4(SOX11):c.16G>A (p.Glu6Lys)	SOX11 (E6K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1904007	NM_003108.4(SOX11):c.33G>A (p.Glu11=)	SOX11	Single nucleotide variant (synonymous variant)	SOX11-related disorder +1 more	GLikely benign
Select item 2293496	NM_003108.4(SOX11):c.36C>A (p.Ser12Arg)	SOX11 (S12R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2878863	NM_003108.4(SOX11):c.45C>T (p.Pro15=)	SOX11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984298	NM_003108.4(SOX11):c.49G>C (p.Glu17Gln)	SOX11 (E17Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2340047	NM_003108.4(SOX11):c.53C>G (p.Ala18Gly)	SOX11 (A18G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715893	NM_003108.4(SOX11):c.63G>T (p.Thr21=)	SOX11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111738	NM_003108.4(SOX11):c.67G>A (p.Glu23Lys)	SOX11 (E23K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745359	NM_003108.4(SOX11):c.73G>A (p.Glu25Lys)	SOX11 (E25K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2866514	NM_003108.4(SOX11):c.78C>G (p.Phe26Leu)	SOX11 (F26L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2507151	NM_003108.4(SOX11):c.80T>C (p.Met27Thr)	SOX11 (M27T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443007	NM_003108.4(SOX11):c.87C>A (p.Cys29Ter)	SOX11 (C29*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 27	GPathogenic
Select item 2311129	NM_003108.4(SOX11):c.95T>G (p.Val32Gly)	SOX11 (V32G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504995	NM_003108.4(SOX11):c.111C>A (p.Ser37Arg)	SOX11 (S37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822621	NM_003108.4(SOX11):c.113A>G (p.Asp38Gly)	SOX11 (D38G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709108	NM_003108.4(SOX11):c.116C>G (p.Pro39Arg)	SOX11 (P39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033760	NM_003108.4(SOX11):c.135G>T (p.Ala45=)	SOX11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1954099	NM_003108.4(SOX11):c.138G>C (p.Ser46=)	SOX11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443023	NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)	SOX11 (G47S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GUncertain significance
Select item 1301272	NM_003108.4(SOX11):c.142C>G (p.His48Asp)	SOX11 (H48D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27 +1 more	GUncertain significance
Select item 2443028	NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)	SOX11 (I49N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 1804059	NM_003108.4(SOX11):c.146T>G (p.Ile49Ser)	SOX11 (I49S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 3049183	NM_003108.4(SOX11):c.148A>G (p.Lys50Glu)	SOX11 (K50E)	Single nucleotide variant (missense variant)	SOX11-related disorder	GLikely pathogenic
Select item 2443030	NM_003108.4(SOX11):c.148A>C (p.Lys50Gln)	SOX11 (K50Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GPathogenic
Select item 2443029	NM_003108.4(SOX11):c.150G>C (p.Lys50Asn)	SOX11 (K50N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GPathogenic
Select item 2443031	NM_003108.4(SOX11):c.151C>G (p.Arg51Gly)	SOX11 (R51G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 1493563	NM_003108.4(SOX11):c.151C>T (p.Arg51Trp)	SOX11 (R51W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2443008	NM_003108.4(SOX11):c.152G>T (p.Arg51Leu)	SOX11 (R51L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 1067260	NM_003108.4(SOX11):c.152G>A (p.Arg51Gln)	SOX11 (R51Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 3067682	NM_003108.4(SOX11):c.155C>G (p.Pro52Arg)	SOX11 (P52R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2443009	NM_003108.4(SOX11):c.155C>T (p.Pro52Leu)	SOX11 (P52L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27 +1 more	GPathogenic/Likely pathogenic
Select item 2443012	NM_003108.4(SOX11):c.157A>G (p.Met53Val)	SOX11 (M53V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2443011	NM_003108.4(SOX11):c.158T>G (p.Met53Arg)	SOX11 (M53R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2443010	NM_003108.4(SOX11):c.159G>A (p.Met53Ile)	SOX11 (M53I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 1802586	NM_003108.4(SOX11):c.159G>T (p.Met53Ile)	SOX11 (M53I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2661912	NM_003108.4(SOX11):c.160A>G (p.Asn54Asp)	SOX11 (N54D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 746737	NM_003108.4(SOX11):c.162C>T (p.Asn54=)	SOX11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1685451	NM_003108.4(SOX11):c.167T>G (p.Phe56Cys)	SOX11 (F56C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 1067424	NM_003108.4(SOX11):c.168C>G (p.Phe56Leu)	SOX11 (F56L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27 +1 more	GLikely pathogenic
Select item 1686222	NM_003108.4(SOX11):c.170T>C (p.Met57Thr)	SOX11 (M57T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27 +1 more	GPathogenic/Likely pathogenic
Select item 1218667	NM_003108.4(SOX11):c.175T>C (p.Trp59Arg)	SOX11 (W59R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2443014	NM_003108.4(SOX11):c.176G>A (p.Trp59Ter)	SOX11 (W59*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 27	GPathogenic
Select item 139530	NM_003108.4(SOX11):c.178T>C (p.Ser60Pro)	SOX11 (S60P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GPathogenic
Select item 2443013	NM_003108.4(SOX11):c.190C>A (p.Arg64Ser)	SOX11 (R64S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 1705386	NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)	SOX11 (R64C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GConflicting classifications of pathogenicity
Select item 420790	NM_003108.4(SOX11):c.190C>G (p.Arg64Gly)	SOX11 (R64G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2443015	NM_003108.4(SOX11):c.191G>T (p.Arg64Leu)	SOX11 (R64L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2430907	NM_003108.4(SOX11):c.191G>C (p.Arg64Pro)	SOX11 (R64P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27 +1 more	GLikely pathogenic
Select item 1344679	NM_003108.4(SOX11):c.191G>A (p.Arg64His)	SOX11 (R64H)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome	GLikely pathogenic
Select item 2987638	NM_003108.4(SOX11):c.199A>G (p.Ile67Val)	SOX11 (I67V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997362	NM_003108.4(SOX11):c.216G>A (p.Pro72=)	SOX11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2025010	NM_003108.4(SOX11):c.224_225insTTGCA (p.Asn76fs)	SOX11 (N76fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1677874	NM_003108.4(SOX11):c.220A>C (p.Met74Leu)	SOX11 (M74L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443016	NM_003108.4(SOX11):c.223C>G (p.His75Asp)	SOX11 (H75D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 436838	NM_003108.4(SOX11):c.225C>T (p.His75=)	SOX11	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 970628	NM_003108.4(SOX11):c.226A>G (p.Asn76Asp)	SOX11 (N76D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27 +1 more	GConflicting classifications of pathogenicity
Select item 2882754	NM_003108.4(SOX11):c.231C>G (p.Ala77=)	SOX11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 928516	NM_003108.4(SOX11):c.235A>C (p.Ile79Leu)	SOX11 (I79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1332805	NM_003108.4(SOX11):c.239C>T (p.Ser80Phe)	SOX11 (S80F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 521179	NM_003108.4(SOX11):c.239C>G (p.Ser80Cys)	SOX11 (S80C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443017	NM_003108.4(SOX11):c.250G>A (p.Gly84Ser)	SOX11 (G84S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 1804060	NM_003108.4(SOX11):c.250G>C (p.Gly84Arg)	SOX11 (G84R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GPathogenic
Select item 2443018	NM_003108.4(SOX11):c.259T>C (p.Trp87Arg)	SOX11 (W87R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2302212	NM_003108.4(SOX11):c.262A>G (p.Lys88Glu)	SOX11 (K88E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 598747	NM_003108.4(SOX11):c.293del (p.Phe98fs)	SOX11 (F98fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2443019	NM_003108.4(SOX11):c.294C>G (p.Phe98Leu)	SOX11 (F98L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GUncertain significance
Select item 420675	NM_003108.4(SOX11):c.299G>C (p.Arg100Pro)	SOX11 (R100P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27 +1 more	GPathogenic/Likely pathogenic
Select item 870388	NM_003108.4(SOX11):c.305C>T (p.Ala102Val)	SOX11 (A102V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2790019	NM_003108.4(SOX11):c.306G>T (p.Ala102=)	SOX11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1336097	NM_003108.4(SOX11):c.306G>A (p.Ala102=)	SOX11	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1297001	NM_003108.4(SOX11):c.309GCGGCT[3] (p.104RL[3])	SOX11	Microsatellite (inframe_insertion)	Intellectual disability, autosomal dominant 27	GUncertain significance
Select item 2086321	NM_003108.4(SOX11):c.312G>A (p.Arg104=)	SOX11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443020	NM_003108.4(SOX11):c.317G>C (p.Arg106Pro)	SOX11 (R106P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 620069	NM_003108.4(SOX11):c.322A>G (p.Lys108Glu)	SOX11 (K108E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 986819	NM_003108.4(SOX11):c.323A>C (p.Lys108Thr)	SOX11 (K108T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2443021	NM_003108.4(SOX11):c.326A>C (p.His109Pro)	SOX11 (H109P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2973090	NM_003108.4(SOX11):c.330G>A (p.Met110Ile)	SOX11 (M110I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443024	NM_003108.4(SOX11):c.337T>C (p.Tyr113His)	SOX11 (Y113H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 1719978	NM_003108.4(SOX11):c.338A>G (p.Tyr113Cys)	SOX11 (Y113C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020721	NM_003108.4(SOX11):c.339C>T (p.Tyr113=)	SOX11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 139529	NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys)	SOX11 (Y116C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GUncertain significance
Select item 3167702	NM_003108.4(SOX11):c.352T>C (p.Tyr118His)	SOX11 (Y118H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2499552	NM_003108.4(SOX11):c.353A>G (p.Tyr118Cys)	SOX11 (Y118C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic

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