"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC399900 - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032123	NM_002032.3(FTH1):c.57C>T (p.Ala19=)	FTH1, LOC399900	Single nucleotide variant (synonymous variant +1 more)	FTH1-related disorder	GLikely benign
Select item 3050386	NM_002032.3(FTH1):c.51A>C (p.Ser17=)	FTH1, LOC399900	Single nucleotide variant (synonymous variant +1 more)	FTH1-related disorder	GLikely benign
Select item 305146	NM_002032.3(FTH1):c.-2C>T	FTH1, LOC399900	Single nucleotide variant (5 prime UTR variant)	FTH1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3060745	NM_002032.3(FTH1):c.-162T>G	FTH1, LOC399900	Single nucleotide variant (5 prime UTR variant +1 more)	FTH1-related disorder	GLikely benign

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