"TTR-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 181697	NM_000371.4(TTR):c.14G>A (p.Arg5His)	TTR (R5H)	Single nucleotide variant (missense variant)	TTR-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 930309	NM_000371.4(TTR):c.69+5G>C	TTR	Single nucleotide variant (intron variant)	TTR-related disorder +1 more	GUncertain significance
Select item 386609	NM_000371.4(TTR):c.70-9T>C	TTR	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 13417	NM_000371.4(TTR):c.148G>A (p.Val50Met)	TTR (V50M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic
Select item 1454801	NM_000371.4(TTR):c.206C>T (p.Thr69Ile)	TTR (T69I)	Single nucleotide variant (missense variant)	Familial amyloid neuropathy +1 more	GPathogenic
Select item 36891	NM_000371.4(TTR):c.336+19G>A	TTR	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 43453	NM_000371.4(TTR):c.360C>T (p.Ser120=)	TTR	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +6 more	GBenign
Select item 197136	NM_000371.4(TTR):c.384C>T (p.Ala128=)	TTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 13426	NM_000371.4(TTR):c.424G>A (p.Val142Ile)	TTR (V142I)	Single nucleotide variant (missense variant)	ATTRV122I amyloidosis +12 more	GPathogenic

ClinVar