"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 529508	NM_003560.4(PLA2G6):c.1797C>G (p.Phe599Leu)	PLA2G6 (F599L +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GConflicting classifications of pathogenicity
Select item 1265475	NM_003560.4(PLA2G6):c.1743-184C>T	PLA2G6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1691452	NM_003560.4(PLA2G6):c.1586T>C (p.Leu529Pro)	PLA2G6 (L297P +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GUncertain significance
Select item 1253512	NM_003560.4(PLA2G6):c.1348+127C>G	PLA2G6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1279569	NM_003560.4(PLA2G6):c.797+43C>T	PLA2G6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1293120	NM_003560.4(PLA2G6):c.609+71A>G	PLA2G6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3255255	NM_003560.4(PLA2G6):c.210-1793A>G	PLA2G6	Single nucleotide variant (intron variant)	not specified	GBenign

ClinVar