ClinVar for MedGen (Select 1644310) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2579273	GRCh38/hg38 Xq23(chrX:111250820-111333251)x1	CAPN6, DCX	Copy number loss	Lissencephaly type 1 due to doublecortin gene mutation	GPathogenic
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 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 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 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 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 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 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 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 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
Select item 1685689	NM_001195553.2(DCX):c.266G>A (p.Arg89Gln)	DCX (R170Q +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GPathogenic
Select item 1342885	NM_001195553.2(DCX):c.628del (p.Val210fs)	DCX (V210fs +1 more)	Deletion (frameshift variant)	Lissencephaly type 1 due to doublecortin gene mutation	GPathogenic
Select item 1320092	NM_001195553.2(DCX):c.304C>A (p.Arg102Ser)	DCX (R102S +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GPathogenic
Select item 1285488	NM_001195553.2(DCX):c.478del (p.Gln160fs)	DCX (Q160fs +1 more)	Deletion (frameshift variant)	Lissencephaly type 1 due to doublecortin gene mutation	GLikely pathogenic
Select item 1220546	NM_001195553.2(DCX):c.946+4588G>T	DCX	Single nucleotide variant (intron variant)	Lissencephaly type 1 due to doublecortin gene mutation	GUncertain significance
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 1164037	NM_001195553.2(DCX):c.788A>G (p.Asp263Gly)	DCX (D263G +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GLikely pathogenic
Select item 1028842	NM_001195553.2(DCX):c.-22-387T>G	DCX (D56E)	Single nucleotide variant (missense variant +1 more)	Lissencephaly type 1 due to doublecortin gene mutation	GUncertain significance
Select item 974564	NM_001195553.2(DCX):c.808+1G>A	DCX	Single nucleotide variant (splice donor variant)	Lissencephaly type 1 due to doublecortin gene mutation	GLikely pathogenic
Select item 812172	NM_001195553.2(DCX):c.211G>A (p.Ala71Thr)	DCX (A152T +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation +2 more	GConflicting classifications of pathogenicity
Select item 800524	NM_001195553.2(DCX):c.665C>T (p.Thr222Ile)	DCX (T222I +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GLikely pathogenic
Select item 619981	NM_001195553.2(DCX):c.226C>G (p.Arg76Gly)	DCX (R157G +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GPathogenic
Select item 495232	NM_001195553.2(DCX):c.-22-364C>T	DCX (P64L)	Single nucleotide variant (missense variant +1 more)	Lissencephaly type 1 due to doublecortin gene mutation	GLikely pathogenic
Select item 438585	NM_001195553.2(DCX):c.190T>A (p.Tyr64Asn)	DCX (Y145N +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GLikely pathogenic
Select item 434901	NM_001195553.2(DCX):c.544G>T (p.Val182Phe)	DCX (V182F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 419990	NM_001195553.2(DCX):c.505C>T (p.Gln169Ter)	DCX (Q169* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 210828	NM_001195553.2(DCX):c.280A>G (p.Asn94Asp)	DCX (N94D +1 more)	Single nucleotide variant (missense variant)	Abnormal cortical gyration	GPathogenic
Select item 158511	NM_001195553.2(DCX):c.907C>T (p.Arg303Ter)	DCX (R303* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 158509	NM_001195553.2(DCX):c.814C>T (p.Arg272Ter)	DCX (R272* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 158508	NM_001195553.2(DCX):c.809-1G>A	DCX	Single nucleotide variant (splice acceptor variant)	Lissencephaly type 1 due to doublecortin gene mutation +1 more	GPathogenic/Likely pathogenic
Select item 158496	NM_001195553.2(DCX):c.667G>A (p.Gly223Arg)	DCX (G223R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 158485	NM_001195553.2(DCX):c.586C>T (p.Arg196Cys)	DCX (R196C +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation +2 more	GPathogenic/Likely pathogenic
Select item 158477	NM_001195553.2(DCX):c.557G>A (p.Arg186His)	DCX (R186H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	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)	not provided +2 more	GPathogenic
Select item 158441	NM_001195553.2(DCX):c.226C>T (p.Arg76Cys)	DCX (R76C +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation +1 more	GPathogenic/Likely pathogenic
Select item 158433	NM_001195553.2(DCX):c.176G>A (p.Arg59His)	DCX (R59H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 82052	NM_001195553.2(DCX):c.305G>A (p.Arg102His)	DCX (R102H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 11610	NM_001195553.2(DCX):c.211G>T (p.Ala71Ser)	DCX (A71S +1 more)	Single nucleotide variant (missense variant)	Subcortical laminar heterotopia, X-linked +1 more	GPathogenic
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 11603	NM_001195553.2(DCX):c.139A>C (p.Ser47Arg)	DCX (S47R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 11602	NM_001195553.2(DCX):c.608C>G (p.Thr203Arg)	DCX (T203R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GPathogenic
Select item 11601	NM_001195553.2(DCX):c.176G>T (p.Arg59Leu)	DCX (R59L +1 more)	Single nucleotide variant (missense variant)	Subcortical laminar heterotopia, X-linked +1 more	GPathogenic
Select item 11599	NM_001195553.2(DCX):c.373T>C (p.Tyr125His)	DCX (Y125H +1 more)	Single nucleotide variant (missense variant)	Subcortical laminar heterotopia, X-linked +1 more	GPathogenic
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 11597	NM_001195553.2(DCX):c.184G>A (p.Asp62Asn)	DCX (D62N +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 1 due to doublecortin gene mutation	GPathogenic/Likely pathogenic

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Items: 51