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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628182	NM_152266.5(FAAP24):c.-13-42A>G	FAAP24	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688491	NM_152266.5(FAAP24):c.106+17C>T	FAAP24	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628125	NM_152266.5(FAAP24):c.417G>A (p.Glu139=)	FAAP24	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2628276	NM_152266.5(FAAP24):c.575T>C (p.Ile192Thr)	FAAP24 (I192T +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2628141	NM_152266.5(FAAP24):c.636G>A (p.Thr212=)	FAAP24	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2627899	NM_152266.5(FAAP24):c.*32T>C	FAAP24	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign

ClinVar