C4551968[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158509	NM_001195553.2(DCX):c.814C>T (p.Arg272Ter)	DCX (R272* +1 more)	Single nucleotide variant (nonsense)	Lissencephaly type 1 due to doublecortin gene mutation +3 more	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 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 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 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
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

ClinVar