ClinVar for MedGen (Select 341982) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 880474	NM_002032.3(FTH1):c.*336A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Vitelliform macular dystrophy 2 +3 more	GUncertain significance
Select item 879334	NM_002032.3(FTH1):c.-136C>A	FTH1, LOC399900	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 5	GUncertain significance
Select item 879333	NM_002032.3(FTH1):c.-14C>T	FTH1, LOC399900	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 5	GUncertain significance
Select item 878749	NM_002032.3(FTH1):c.60C>T (p.Ala20=)	FTH1, LOC399900	Single nucleotide variant (synonymous variant)	Hemochromatosis type 5	GBenign
Select item 878748	NM_002032.3(FTH1):c.*159C>T	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 5	GUncertain significance
Select item 305147	NM_002032.3(FTH1):c.-204A>G	FTH1, LOC399900	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 5	GUncertain significance
Select item 305146	NM_002032.3(FTH1):c.-2C>T	FTH1, LOC399900	Single nucleotide variant (5 prime UTR variant)	FTH1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 305145	NM_002032.3(FTH1):c.161A>G (p.Lys54Arg)	BEST1, FTH1 (K54R)	Single nucleotide variant (missense variant +1 more)	FTH1-related condition +6 more	GBenign/Likely benign
Select item 305144	NM_002032.3(FTH1):c.208C>T (p.Leu70=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	Hemochromatosis type 5	GUncertain significance
Select item 305143	NM_002032.3(FTH1):c.387+12A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 305142	NM_002032.3(FTH1):c.388-5T>C	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Hemochromatosis type 5	GBenign
Select item 305141	NM_002032.3(FTH1):c.413A>T (p.Tyr138Phe)	BEST1, FTH1 (Y138F)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 5	GUncertain significance
Select item 305140	NM_002032.3(FTH1):c.*165T>C	FTH1, BEST1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 5	GUncertain significance
Select item 305139	NM_002032.3(FTH1):c.*222C>T	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant)	Vitelliform macular dystrophy 2 +5 more	GBenign
Select item 305138	NM_002032.3(FTH1):c.*312A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Vitelliform macular dystrophy 2 +3 more	GUncertain significance
Select item 305137	NM_002032.3(FTH1):c.*319G>A	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Vitelliform macular dystrophy 2 +5 more	GBenign/Likely benign
Select item 305135	NM_002032.3(FTH1):c.*389A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant vitreoretinochoroidopathy +5 more	GConflicting classifications of pathogenicity
Select item 305134	NM_002032.3(FTH1):c.*396A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 16490	NM_002032.3(FTH1):c.-164A>T	FTH1, LOC399900	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 5	GPathogenic