Related gene-specific medical variations for Gene (Select 7276) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242761	NC_000018.9:g.(?_29178511)_(29178638_?)dup	TTR	Duplication	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 1799566	NM_000371.4(TTR):c.232C>G (p.Leu78Val)	TTR (L78V)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 1064643	NM_000371.4(TTR):c.185A>C (p.Glu62Ala)	TTR (E62A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 994143	NM_000371.4(TTR):c.201-32C>T	TTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 993730	NM_000371.4(TTR):c.69+30C>T	TTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 931788	NM_000371.4(TTR):c.203A>C (p.Lys68Thr)	TTR (K68T)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 811759	NM_000371.4(TTR):c.47T>A (p.Phe16Tyr)	TTR (F16Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811320	NM_000371.4(TTR):c.201-27C>A	TTR	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 546816	NM_000371.4(TTR):c.271del (p.Val91fs)	TTR (V91fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 13425	TTR, TYR116VAL	TTR	Variation	TRANSTHYRETIN POLYMORPHISM	GBenign