ClinVar for Gene (Select 1641) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349037	NM_001195553.2(DCX):c.751G>C (p.Ala251Pro)	DCX (A251P +1 more)	Single nucleotide variant (missense variant)	DCX-related disorder	GLikely pathogenic
Select item 3344315	NM_001195553.2(DCX):c.768A>C (p.Lys256Asn)	DCX (K256N +1 more)	Single nucleotide variant (missense variant)	DCX-related disorder	GUncertain significance
Select item 3343847	NM_001195553.2(DCX):c.56G>A (p.Arg19Gln)	DCX (R100Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343343	NM_001195553.2(DCX):c.712T>C (p.Cys238Arg)	DCX (C238R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342911	NM_001195553.2(DCX):c.298G>A (p.Gly100Arg)	DCX (G100R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338904	NM_001195553.2(DCX):c.1076C>T (p.Ser359Leu)	DCX (S353L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3338808	NM_001195553.2(DCX):c.200G>A (p.Gly67Glu)	DCX (G148E +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3257076	NM_001195553.2(DCX):c.250C>T (p.Leu84=)	DCX	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3252240	NM_001195553.2(DCX):c.-22-394_-22-391delinsGTTTCCTCACACATCTGTTT	DCX (E54fs)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3246938	NC_000023.10:g.(?_109919459)_(110653626_?)del	CAPN6, CHRDL1 +2 more	Deletion	not provided	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3080685	NM_001195553.2(DCX):c.680A>C (p.Lys227Thr)	DCX (K227T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065092	NM_001195553.2(DCX):c.530T>G (p.Val177Gly)	DCX (V177G +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GUncertain significance
Select item 3065074	NM_001195553.2(DCX):c.604A>G (p.Lys202Glu)	DCX (K202E +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3054266	NM_001195553.2(DCX):c.-22-395G>A	DCX (E54K)	Single nucleotide variant (missense variant +1 more)	DCX-related disorder	GLikely benign
Select item 3046001	NM_001195553.2(DCX):c.-22-558T>G	DCX	Single nucleotide variant (5 prime UTR variant +1 more)	DCX-related disorder	GLikely benign
Select item 3040860	NM_001195553.2(DCX):c.1044+4T>C	DCX	Single nucleotide variant (intron variant)	DCX-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CPXCR1, MAGEE2 +488 more	Copy number gain	not provided	GPathogenic
Select item 3011839	NM_001195553.2(DCX):c.1016G>A (p.Ser339Asn)	DCX (S334N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2992191	NM_001195553.2(DCX):c.677A>C (p.Lys226Thr)	DCX (K226T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917140	NM_001195553.2(DCX):c.306T>C (p.Arg102=)	DCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905571	NM_001195553.2(DCX):c.27C>T (p.Asp9=)	DCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853690	NM_001195553.2(DCX):c.766A>G (p.Lys256Glu)	DCX (K256E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850773	NM_001195553.2(DCX):c.365-22_365-20dup	DCX	Duplication (intron variant)	not provided	GLikely benign
Select item 2811793	NM_001195553.2(DCX):c.190T>G (p.Tyr64Asp)	DCX (Y145D +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2737358	NM_001195553.2(DCX):c.4G>A (p.Glu2Lys)	DCX (E2K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737357	NM_001195553.2(DCX):c.438G>T (p.Trp146Cys)	DCX (W146C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732636	NM_001195553.2(DCX):c.1045-14T>C	DCX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2713734	NM_001195553.2(DCX):c.706-4A>G	DCX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2698512	NM_001195553.2(DCX):c.627A>C (p.Gln209His)	DCX (Q209H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2673255	NM_001195553.2(DCX):c.-22-521G>A	DCX (E12K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662606	NM_001195553.2(DCX):c.874A>G (p.Lys292Glu)	DCX (K292E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662589	NM_001195553.2(DCX):c.890G>C (p.Ser297Thr)	DCX (S297T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661206	NM_001195553.2(DCX):c.-22-498G>A	DCX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661205	NM_001195553.2(DCX):c.606G>A (p.Lys202=)	DCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661204	NM_001195553.2(DCX):c.1083G>A (p.Ser361=)	DCX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2631966	NM_001195553.2(DCX):c.904C>T (p.Arg302Cys)	DCX (R302C +1 more)	Single nucleotide variant (missense variant)	DCX-related disorder	GUncertain significance
Select item 2627598	NM_001195553.2(DCX):c.613C>G (p.His205Asp)	DCX (H205D +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GUncertain significance
Select item 2583086	NM_001195553.2(DCX):c.-22-366C>T	DCX	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2579409	NM_001195553.2(DCX):c.64C>T (p.Arg22Trp)	DCX (R103W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579273	GRCh38/hg38 Xq23(chrX:111250820-111333251)x1	CAPN6, DCX	Copy number loss	Lissencephaly type 1 due to doublecortin gene mutation	GPathogenic
Select item 2576733	NM_001195553.2(DCX):c.-22-336T>G	DCX (C73W)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2575083	NM_001195553.2(DCX):c.1057C>T (p.Pro353Ser)	DCX (A315V +6 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GLikely pathogenic
Select item 2572902	NM_001195553.2(DCX):c.596T>G (p.Leu199Arg)	DCX (L199R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2530348	NM_001195553.2(DCX):c.-22-345_326del	DCX	Deletion (splice acceptor variant +3 more)	Inborn genetic diseases	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2500864	NM_001195553.2(DCX):c.706-2794G>A	DCX	Single nucleotide variant (intron variant)	Lissencephaly type 1 due to doublecortin gene mutation	GUncertain significance
Select item 2430813	NM_001195553.2(DCX):c.263C>T (p.Thr88Met)	DCX (T169M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2430137	NM_001195553.2(DCX):c.536C>A (p.Pro179His)	DCX (P179H +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GLikely pathogenic
Select item 2427567	NC_000023.10:g.(?_110544915)_(110544991_?)del	DCX	Deletion	not provided	GUncertain significance
Select item 2427564	NC_000023.10:g.(?_110576259)_(110576401_?)del	DCX	Deletion	not provided	GPathogenic
Select item 2424029	NC_000023.10:g.(?_110544895)_(111003247_?)del	ALG13, DCX	Deletion	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2423699	NC_000023.10:g.(?_109919459)_(111003227_?)del	ALG13, CAPN6 +3 more	Deletion	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2243707	NM_001195553.2(DCX):c.158A>G (p.Lys53Arg)	DCX (K53R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201782	NM_001195553.2(DCX):c.867A>G (p.Thr289=)	DCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161183	NM_001195553.2(DCX):c.945C>T (p.Asp315=)	DCX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2126100	NM_001195553.2(DCX):c.973T>A (p.Ser325Thr)	DCX (S325T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2122820	NM_001195553.2(DCX):c.366G>A (p.Gly122=)	DCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2116258	NM_001195553.2(DCX):c.545T>A (p.Val182Asp)	DCX (V182D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064870	NM_001195553.2(DCX):c.908G>A (p.Arg303Gln)	DCX (R384Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2062832	NM_001195553.2(DCX):c.598A>T (p.Asn200Tyr)	DCX (N200Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024484	NM_001195553.2(DCX):c.1068G>A (p.Leu356=)	DCX (G319R +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2015926	NM_001195553.2(DCX):c.383C>T (p.Ser128Phe)	DCX (S128F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1963285	NM_001195553.2(DCX):c.331A>C (p.Arg111=)	DCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878655	NM_001195553.2(DCX):c.1065del (p.Leu356fs)	DCX (G319fs +5 more)	Deletion (frameshift variant)	Lissencephaly type 1 due to doublecortin gene mutation +1 more	GUncertain significance
Select item 1878548	NM_001195553.2(DCX):c.439T>C (p.Ser147Pro)	DCX (S147P +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GUncertain significance
Select item 1809431	GRCh37/hg19 Xq23(chrX:108922296-111549785)x1	ACSL4, ALG13 +10 more	Copy number loss	not provided	GPathogenic
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1805112	NM_001195553.2(DCX):c.302T>G (p.Val101Gly)	DCX (V101G +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GLikely pathogenic
Select item 1804323	NM_001195553.2(DCX):c.65G>A (p.Arg22Gln)	DCX (R103Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804148	NM_001195553.2(DCX):c.171_182del (p.Phe57_Gly61delinsLeu)	DCX	Deletion (inframe_indel)	Lissencephaly type 1 due to doublecortin gene mutation	GLikely pathogenic
Select item 1800519	NM_001195553.2(DCX):c.800A>G (p.Asp267Gly)	DCX (D267G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1779541	NM_001195553.2(DCX):c.1077G>A (p.Ser359=)	DCX	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1766785	NM_001195553.2(DCX):c.954A>T (p.Gly318=)	DCX	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1766547	NM_001195553.2(DCX):c.936C>T (p.Asn312=)	DCX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1764435	NM_001195553.2(DCX):c.871C>T (p.Gln291Ter)	DCX (Q291* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1763712	NM_001195553.2(DCX):c.851C>T (p.Pro284Leu)	DCX (P284L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1763136	NM_001195553.2(DCX):c.837A>G (p.Ser279=)	DCX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1762439	NM_001195553.2(DCX):c.81T>G (p.Pro27=)	DCX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1755276	NM_001195553.2(DCX):c.675C>G (p.Val225=)	DCX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1712796	NM_001195553.2(DCX):c.103T>C (p.Cys35Arg)	DCX (C116R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1712776	NM_001195553.2(DCX):c.703C>T (p.Gln235Ter)	DCX (Q235* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1709795	NM_001195553.2(DCX):c.298G>C (p.Gly100Arg)	DCX (G100R +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GLikely pathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1705541	NM_001195553.2(DCX):c.832C>G (p.Pro278Ala)	DCX (P278A +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GUncertain significance
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1701608	NM_001195553.2(DCX):c.35A>G (p.Asp12Gly)	DCX (D12G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701040	NM_001195553.2(DCX):c.781del (p.Gln261fs)	DCX (Q261fs +1 more)	Deletion (frameshift variant)	Abnormal cerebral morphology	GPathogenic
Select item 1699053	NM_001195553.2(DCX):c.479_482dup (p.Leu162fs)	DCX (L162fs +1 more)	Duplication (frameshift variant)	Subcortical band heterotopia	GPathogenic
Select item 1697086	NM_001195553.2(DCX):c.955A>G (p.Thr319Ala)	DCX (T314A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1691104	NM_001195553.2(DCX):c.602AGA[1] (p.Lys202del)	DCX (K202del +1 more)	Microsatellite (inframe_deletion)	Lissencephaly type 1 due to doublecortin gene mutation	GPathogenic
Select item 1687178	NM_001195553.2(DCX):c.548C>T (p.Thr183Ile)	DCX (T183I +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GLikely pathogenic

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