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

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256843	NM_138737.6(HEPH):c.-47T>C	HEPH	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 3256823	NM_001367233.3(HEPH):c.168-16T>C	HEPH	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3256805	NM_001367233.3(HEPH):c.2077+15A>G	HEPH	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3256827	NM_001367233.3(HEPH):c.2295T>C (p.Tyr765=)	HEPH	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 3256830	NM_001367233.3(HEPH):c.2379A>G (p.Thr793=)	HEPH	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign

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