C1857747[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6198	NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del)	PLA2G6 (V691del +4 more)	Deletion (inframe_deletion)	not provided +3 more	GPathogenic
Select item 984695	NM_003560.4(PLA2G6):c.319del (p.Leu107fs)	PLA2G6 (L107fs)	Deletion (frameshift variant +1 more)	PLA2G6-associated neurodegeneration +2 more	GPathogenic/Likely pathogenic
Select item 30370	NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter)	PLA2G6 (R37*)	Single nucleotide variant (nonsense +1 more)	PLA2G6-associated neurodegeneration +4 more	GPathogenic

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