ClinVar for OMIM (Select 600469) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1713275	NM_002267.4(KPNA3):c.983T>C (p.Leu328Pro)	KPNA3 (L328P)	Single nucleotide variant (missense variant)	Spastic paraplegia 88, autosomal dominant	GPathogenic
Select item 1713274	NM_002267.4(KPNA3):c.1049T>C (p.Leu350Pro)	KPNA3 (L350P)	Single nucleotide variant (missense variant)	Spastic paraplegia 88, autosomal dominant	GPathogenic
Select item 1713272	NM_002267.4(KPNA3):c.1001T>G (p.Leu334Arg)	KPNA3 (L334R)	Single nucleotide variant (missense variant)	Spastic paraplegia 88, autosomal dominant	GPathogenic

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