ClinVar for MedGen (Select 148146) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 803482	NM_000371.4(TTR):c.277A>G (p.Ile93Val)	TTR (I93V)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GPathogenic/Likely pathogenic
Select item 13450	NM_000371.4(TTR):c.379A>G (p.Ile127Val)	TTR (I127V)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic