"FTH1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046577	NM_002032.3(FTH1):c.*5C>T	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant)	FTH1-related disorder	GLikely benign
Select item 2696330	NM_002032.3(FTH1):c.525C>T (p.Thr175=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2636131	NM_002032.3(FTH1):c.514G>A (p.Asp172Asn)	BEST1, FTH1 (D172N)	Single nucleotide variant (missense variant +1 more)	FTH1-related disorder	GUncertain significance
Select item 305145	NM_002032.3(FTH1):c.161A>G (p.Lys54Arg)	BEST1, FTH1 (K54R)	Single nucleotide variant (missense variant +1 more)	FTH1-related disorder +6 more	GBenign/Likely benign
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

ClinVar