ClinVar for MedGen (Select 341982) - ClinVar - NCBI

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Items: 19

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 8804741.	NM_002032.3(FTH1):c.*336A>G GRCh37: Chr11:61731863 GRCh38: Chr11:61964391	BEST1, FTH1		Retinitis pigmentosa, Hemochromatosis type 5, Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8793342.	NM_002032.3(FTH1):c.-136C>A GRCh37: Chr11:61735033 GRCh38: Chr11:61967561	FTH1		Hemochromatosis type 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8793333.	NM_002032.3(FTH1):c.-14C>T GRCh37: Chr11:61734911 GRCh38: Chr11:61967439	FTH1		Hemochromatosis type 5	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 8787494.	NM_002032.3(FTH1):c.60C>T (p.Ala20=) GRCh37: Chr11:61734838 GRCh38: Chr11:61967366	FTH1		Hemochromatosis type 5	Benign (Mar 20, 2018)	criteria provided, single submitter
Select item 8787485.	NM_002032.3(FTH1):c.*159C>T GRCh37: Chr11:61732040 GRCh38: Chr11:61964568	BEST1, FTH1		Hemochromatosis type 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 3051476.	NM_002032.3(FTH1):c.-204A>G GRCh37: Chr11:61735101 GRCh38: Chr11:61967629	FTH1		Hemochromatosis type 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 3051467.	NM_002032.3(FTH1):c.-2C>T GRCh37: Chr11:61734899 GRCh38: Chr11:61967427	FTH1		Hemochromatosis type 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3051458.	NM_002032.3(FTH1):c.161A>G (p.Lys54Arg) GRCh37: Chr11:61732941 GRCh38: Chr11:61965469	BEST1, FTH1	K54R	Retinitis Pigmentosa, Recessive, Hemochromatosis type 5, Autosomal dominant vitreoretinochoroidopathy, Iron Overload, not provided, Vitelliform macular dystrophy 2	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3051449.	NM_002032.3(FTH1):c.208C>T (p.Leu70=) GRCh37: Chr11:61732894 GRCh38: Chr11:61965422	BEST1, FTH1		Hemochromatosis type 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30514310.	NM_002032.3(FTH1):c.387+12A>G GRCh37: Chr11:61732447 GRCh38: Chr11:61964975	BEST1, FTH1		Retinitis Pigmentosa, Recessive, not provided, Hemochromatosis type 5, Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2, Iron Overload	Benign/Likely benign (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30514211.	NM_002032.3(FTH1):c.388-5T>C GRCh37: Chr11:61732368 GRCh38: Chr11:61964896	BEST1, FTH1		Hemochromatosis type 5	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30514112.	NM_002032.3(FTH1):c.413A>T (p.Tyr138Phe) GRCh37: Chr11:61732338 GRCh38: Chr11:61964866	BEST1, FTH1	Y138F	Hemochromatosis type 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30514013.	NM_002032.3(FTH1):c.*165T>C GRCh37: Chr11:61732034 GRCh38: Chr11:61964562	BEST1, FTH1		Hemochromatosis type 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30513914.	NM_002032.3(FTH1):c.*222C>T GRCh37: Chr11:61731977 GRCh38: Chr11:61964505	BEST1, FTH1		Retinitis Pigmentosa, Recessive, Autosomal dominant vitreoretinochoroidopathy, not provided, Hemochromatosis type 5, Vitelliform macular dystrophy 2, Iron Overload	Benign (May 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30513815.	NM_002032.3(FTH1):c.*312A>G GRCh37: Chr11:61731887 GRCh38: Chr11:61964415	BEST1, FTH1		Retinitis pigmentosa, Autosomal dominant vitreoretinochoroidopathy, Hemochromatosis type 5, Vitelliform macular dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30513716.	NM_002032.3(FTH1):c.*319G>A GRCh37: Chr11:61731880 GRCh38: Chr11:61964408	BEST1, FTH1		Retinitis Pigmentosa, Recessive, Retinitis pigmentosa, Autosomal dominant vitreoretinochoroidopathy, Hemochromatosis type 5, not provided, Vitelliform macular dystrophy 2	Benign/Likely benign (Aug 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30513517.	NM_002032.3(FTH1):c.*389A>G GRCh37: Chr11:61731810 GRCh38: Chr11:61964338	BEST1, FTH1		Retinitis Pigmentosa, Recessive, Retinitis pigmentosa, not provided, Hemochromatosis type 5, Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 30513418.	NM_002032.3(FTH1):c.*396A>G GRCh37: Chr11:61731803 GRCh38: Chr11:61964331	BEST1, FTH1		Retinitis Pigmentosa, Recessive, Retinitis pigmentosa, Hemochromatosis type 5, Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 1649019.	NM_002032.3(FTH1):c.-164A>T GRCh37: Chr11:61735061 GRCh38: Chr11:61967589	FTH1		Hemochromatosis type 5	Pathogenic (Jul 1, 2001)	no assertion criteria provided