C5779776[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13452	NM_000371.4(TTR):c.76G>A (p.Gly26Ser)	TTR (G26S)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 13417	NM_000371.4(TTR):c.148G>A (p.Val50Met)	TTR (V50M)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic
Select item 13446	NM_000371.4(TTR):c.262A>T (p.Ile88Leu)	TTR (I88L)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, dystransthyretinemic +4 more	GPathogenic/Likely pathogenic
Select item 13422	NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)	TTR (S97Y)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, dystransthyretinemic +6 more	GPathogenic/Likely pathogenic
Select item 13468	NM_000371.4(TTR):c.349G>T (p.Ala117Ser)	TTR (A117S)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, dystransthyretinemic +4 more	GPathogenic/Likely pathogenic
Select item 13450	NM_000371.4(TTR):c.379A>G (p.Ile127Val)	TTR (I127V)	Single nucleotide variant (missense variant)	not specified +6 more	GPathogenic/Likely pathogenic
Select item 43454	NM_000371.4(TTR):c.385G>A (p.Ala129Thr)	TTR (A129T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 13449	NM_000371.4(TTR):c.400T>C (p.Tyr134His)	TTR (Y134H)	Single nucleotide variant (missense variant)	Carpal tunnel syndrome 1	GPathogenic
Select item 13426	NM_000371.4(TTR):c.424G>A (p.Val142Ile)	TTR (V142I)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, dystransthyretinemic +13 more	GPathogenic