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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214123	NM_001195248.2(APTX):c.771-12dup	APTX	Duplication (intron variant)	not provided +4 more	GBenign
Select item 2571331	NM_001195248.2(APTX):c.739C>T (p.Arg247Ter)	APTX (R159* +4 more)	Single nucleotide variant (nonsense +1 more)	Epilepsy +1 more	GPathogenic
Select item 420544	NM_001195248.2(APTX):c.484-13_484-12delinsTG	APTX	Indel (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 366593	NM_001195248.2(APTX):c.484-12T>G	APTX	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 136415	NM_001195248.2(APTX):c.484-13G>T	APTX	Single nucleotide variant (intron variant)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +3 more	GBenign/Likely benign
Select item 1290675	NM_001195248.2(APTX):c.483+91C>T	APTX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

ClinVar