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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16517	NM_001141945.3(ACTA2):c.-24+1440C>T	ACTA2, FAS +1 more	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1284170	NM_000043.6(FAS):c.30+246C>T	ACTA2, FAS +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 1229597	NM_000043.6(FAS):c.30+319T>G	ACTA2, FAS +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1277444	NM_000043.6(FAS):c.197-62G>C	FAS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 301527	NM_000043.6(FAS):c.222A>G (p.Thr74=)	FAS	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1235502	NM_000043.6(FAS):c.334+46C>T	FAS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1291170	NM_000043.6(FAS):c.506-71C>G	FAS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 254734	NM_000043.6(FAS):c.642T>C (p.Thr214=)	FAS	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign

ClinVar