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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1326988	NM_001304569.2(PAX2):c.25+31A>G	PAX2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 94387	NM_000278.5(PAX2):c.43+10G>C	PAX2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1257133	NM_000278.5(PAX2):c.43+43C>A	PAX2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1246835	NM_000278.5(PAX2):c.496+89C>G	PAX2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 156300	NM_000278.5(PAX2):c.909A>C (p.Pro303=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +3 more	GBenign
Select item 1228920	NM_000278.5(PAX2):c.1021+91G>A	PAX2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign

ClinVar