ClinVar for OMIM (Select 601545) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180638	NM_005886.3(KATNB1):c.447del (p.Val150fs)	KATNB1 (V150fs)	Deletion (frameshift variant)	Lissencephaly 6 with microcephaly	GPathogenic
Select item 30789	NM_017668.3(NDE1):c.733dup (p.Leu245fs)	NDE1 (L245fs)	Duplication (frameshift variant)	Lissencephaly 4	GPathogenic
Select item 30787	NM_017668.3(NDE1):c.684_685del (p.Pro229fs)	NDE1 (P229fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic

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