ClinVar for MedGen (Select 341899) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696425	NM_017668.3(NDE1):c.54G>A (p.Trp18Ter)	NDE1 (W18*)	Single nucleotide variant (nonsense)	Lissencephaly 4 +1 more	GPathogenic
Select item 1030209	NM_017668.3(NDE1):c.568A>G (p.Arg190Gly)	NDE1 (R190G)	Single nucleotide variant (missense variant)	NDE1-related microhydranencephaly	GUncertain significance
Select item 435935	NM_017668.3(NDE1):c.701G>A (p.Arg234His)	NDE1 (R234H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 287331	NM_017668.3(NDE1):c.302C>T (p.Ala101Val)	NDE1 (A101V)	Single nucleotide variant (missense variant)	Lissencephaly 4 +3 more	GUncertain significance
Select item 224608	NM_017668.3(NDE1):c.-43-3548_83+622del	NDE1	Deletion (splice acceptor variant +2 more)	NDE1-related microhydranencephaly	GPathogenic
Select item 211577	NM_017668.3(NDE1):c.155C>T (p.Thr52Met)	NDE1 (T52M)	Single nucleotide variant (missense variant)	NDE1-related microhydranencephaly +3 more	GUncertain significance
Select item 159020	NM_017668.3(NDE1):c.872C>T (p.Ser291Phe)	NDE1 (S291F)	Single nucleotide variant (missense variant)	NDE1-related microhydranencephaly +2 more	GConflicting classifications of pathogenicity
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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