C0270724[trait identifier] AND "Genomic Research Center, Shahid Behesh - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6195	NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	PLA2G6 (Y790* +4 more)	Single nucleotide variant (nonsense)	PLA2G6-related condition +11 more	GConflicting classifications of pathogenicity
Select item 634589	NM_003560.4(PLA2G6):c.2248T>C (p.Cys750Arg)	PLA2G6 (C750R +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GUncertain significance
Select item 437466	NM_003560.4(PLA2G6):c.1743-1G>C	PLA2G6	Single nucleotide variant (splice acceptor variant)	Infantile neuroaxonal dystrophy	GPathogenic
Select item 523033	NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs)	PLA2G6 (G285fs +4 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 437465	NM_003560.4(PLA2G6):c.1427+1G>A	PLA2G6	Single nucleotide variant (splice donor variant)	Autosomal recessive Parkinson disease 14 +4 more	GPathogenic/Likely pathogenic
Select item 522939	NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn)	PLA2G6 (D331N +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 634473	NM_003560.4(PLA2G6):c.962T>C (p.Leu321Pro)	PLA2G6 (L321P +2 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GLikely pathogenic
Select item 522674	NM_003560.4(PLA2G6):c.834G>C (p.Gln278His)	PLA2G6 (Q278H +2 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GLikely pathogenic

ClinVar