"GeneDx"[submitter] AND "DCX"[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 1212152	NM_001195553.2(DCX):c.*273C>T	DCX	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 421668	NM_001195553.2(DCX):c.1087G>C (p.Gly363Arg)	DCX (G357R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 676961	NM_001195553.2(DCX):c.1044+234G>A	DCX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179444	NM_001195553.2(DCX):c.1044+132G>C	DCX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302504	NM_001195553.2(DCX):c.1031G>C (p.Arg344Pro)	DCX (R339P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367309	NM_001195553.2(DCX):c.1030C>T (p.Arg344Trp)	DCX (R339W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 262927	NM_001195553.2(DCX):c.947-46T>C	DCX	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1217650	NM_001195553.2(DCX):c.946+275C>G	DCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 158511	NM_001195553.2(DCX):c.907C>T (p.Arg303Ter)	DCX (R303* +1 more)	Single nucleotide variant (nonsense)	Ectopic tissue +2 more	GPathogenic
Select item 423012	NM_001195553.2(DCX):c.892C>T (p.Pro298Ser)	DCX (P298S +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 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 158509	NM_001195553.2(DCX):c.814C>T (p.Arg272Ter)	DCX (R272* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 728201	NM_001195553.2(DCX):c.809-9T>C	DCX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272719	NM_001195553.2(DCX):c.808+284C>G	DCX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189915	NM_001195553.2(DCX):c.808+224C>T	DCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 620523	NM_001195553.2(DCX):c.777T>A (p.Tyr259Ter)	DCX (Y259* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 166990	NM_001195553.2(DCX):c.772C>T (p.Arg258Cys)	DCX (R258C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 450436	NM_001195553.2(DCX):c.757G>C (p.Gly253Arg)	DCX (G253R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 427044	NM_001195553.2(DCX):c.752C>A (p.Ala251Asp)	DCX (A251D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 265096	NM_001195553.2(DCX):c.706-2A>G	DCX	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1209270	NM_001195553.2(DCX):c.705+95C>T	DCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262926	NM_001195553.2(DCX):c.705+48A>G	DCX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 262925	NM_001195553.2(DCX):c.705+29G>A	DCX	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1413015	NM_001195553.2(DCX):c.705+1G>A	DCX	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 434900	NM_001195553.2(DCX):c.684_685del (p.Tyr229fs)	DCX (Y229fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 422444	NM_001195553.2(DCX):c.667G>C (p.Gly223Arg)	DCX (G223R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 715116	NM_001195553.2(DCX):c.666C>T (p.Thr222=)	DCX	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3371556	NM_001195553.2(DCX):c.640A>G (p.Ile214Val)	DCX (I214V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 158487	NM_001195553.2(DCX):c.596T>C (p.Leu199Pro)	DCX (L199P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 158486	NM_001195553.2(DCX):c.588T>C (p.Arg196=)	DCX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 11609	NM_001195553.2(DCX):c.587G>A (p.Arg196His)	DCX (R196H +1 more)	Single nucleotide variant (missense variant)	Ectopic tissue +3 more	GPathogenic
Select item 158485	NM_001195553.2(DCX):c.586C>T (p.Arg196Cys)	DCX (R196C +1 more)	Single nucleotide variant (missense variant)	Ectopic tissue +2 more	GPathogenic/Likely pathogenic
Select item 11598	NM_001195553.2(DCX):c.574C>T (p.Arg192Trp)	DCX (R192W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 158481	NM_001195553.2(DCX):c.572C>G (p.Pro191Arg)	DCX (P191R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 158478	NM_001195553.2(DCX):c.557G>T (p.Arg186Leu)	DCX (R186L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 158477	NM_001195553.2(DCX):c.557G>A (p.Arg186His)	DCX (R186H +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation +2 more	GConflicting classifications of pathogenicity
Select item 158476	NM_001195553.2(DCX):c.556C>T (p.Arg186Cys)	DCX (R186C +1 more)	Single nucleotide variant (missense variant)	Ectopic tissue +1 more	GPathogenic
Select item 158472	NM_001195553.2(DCX):c.532C>T (p.Arg178Cys)	DCX (R178C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 419990	NM_001195553.2(DCX):c.505C>T (p.Gln169Ter)	DCX (Q169* +1 more)	Single nucleotide variant (nonsense)	Lissencephaly type 1 due to doublecortin gene mutation +1 more	GPathogenic
Select item 1210701	NM_001195553.2(DCX):c.478dup (p.Gln160fs)	DCX (Q160fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 280550	NM_001195553.2(DCX):c.467dup (p.Met156fs)	DCX (M237fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3376009	NM_001195553.2(DCX):c.443T>G (p.Val148Gly)	DCX (V148G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314193	NM_001195553.2(DCX):c.421A>G (p.Asn141Asp)	DCX (N141D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370610	NM_001195553.2(DCX):c.406G>C (p.Val136Leu)	DCX (V136L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421889	NM_001195553.2(DCX):c.389A>G (p.Asp130Gly)	DCX (D130G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419226	NM_001195553.2(DCX):c.364+1del	DCX	Deletion (splice donor variant)	not provided	GPathogenic
Select item 422142	NM_001195553.2(DCX):c.320T>C (p.Ile107Thr)	DCX (I107T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280251	NM_001195553.2(DCX):c.304C>G (p.Arg102Gly)	DCX (R102G +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 453171	NM_001195553.2(DCX):c.274_277del (p.Ser92fs)	DCX (S173fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 158443	NM_001195553.2(DCX):c.233G>T (p.Arg78Leu)	DCX (R78L +1 more)	Single nucleotide variant (missense variant)	Ectopic tissue +2 more	GPathogenic
Select item 812172	NM_001195553.2(DCX):c.211G>A (p.Ala71Thr)	DCX (A152T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 489234	NM_001195553.2(DCX):c.192C>G (p.Tyr64Ter)	DCX (Y64* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 3364795	NM_001195553.2(DCX):c.96C>A (p.Ser32Arg)	DCX (S113R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384621	NM_001195553.2(DCX):c.96C>T (p.Ser32=)	DCX	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 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 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 426911	NM_001195553.2(DCX):c.30_31del (p.Arg11_Asp12insTer)	DCX	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1293055	NM_001195553.2(DCX):c.-22-312_-22-306del	DCX	Deletion (intron variant)	not provided	GBenign
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 3252240	NM_001195553.2(DCX):c.-22-394_-22-391delinsGTTTCCTCACACATCTGTTT	DCX (E54fs)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 88