"Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU Münc - 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)	Neurodegeneration with brain iron accumulation +11 more	GConflicting classifications of pathogenicity
Select item 6204	NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)	PLA2G6 (R747W +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +4 more	GPathogenic/Likely pathogenic
Select item 159748	NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)	PLA2G6 (R600Q +4 more)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 159731	NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln)	PLA2G6 (L481Q +4 more)	Single nucleotide variant (missense variant)	Iron accumulation in brain +3 more	GPathogenic/Likely pathogenic
Select item 159784	NM_003560.4(PLA2G6):c.986G>A (p.Arg329His)	PLA2G6 (R329H +2 more)	Single nucleotide variant (missense variant)	Iron accumulation in brain +3 more	GConflicting classifications of pathogenicity
Select item 807465	NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser)	PLA2G6 (G253S +1 more)	Single nucleotide variant (missense variant +1 more)	Infantile neuroaxonal dystrophy +1 more	GConflicting classifications of pathogenicity

ClinVar