"Illumina Laboratory Services, Illumina"[submitter] AND "FTH1"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99676	NM_004183.4(BEST1):c.1023C>T (p.Pro341=)	BEST1, FTH1 (P409L)	Single nucleotide variant (synonymous variant +2 more)	Retinitis Pigmentosa, Recessive +6 more	GBenign/Likely benign
Select item 305124	NM_004183.4(BEST1):c.1064G>A (p.Arg355His)	BEST1, FTH1 (R355H +5 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 305125	NM_004183.4(BEST1):c.1070C>T (p.Ala357Val)	FTH1, BEST1 (A357V +5 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 305126	NM_004183.4(BEST1):c.1143C>T (p.Asp381=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa +6 more	GConflicting classifications of pathogenicity
Select item 193666	NM_004183.4(BEST1):c.1410G>A (p.Thr470=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Iron Overload +9 more	GBenign
Select item 193667	NM_004183.4(BEST1):c.1474G>A (p.Val492Ile)	BEST1, FTH1 (V492I +4 more)	Single nucleotide variant (missense variant +2 more)	Iron Overload +6 more	GBenign/Likely benign
Select item 305130	NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro)	BEST1, FTH1 (S507P +4 more)	Single nucleotide variant (missense variant +2 more)	Iron Overload +6 more	GConflicting classifications of pathogenicity
Select item 99680	NM_004183.4(BEST1):c.1557C>T (p.Ser519=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Retinitis Pigmentosa, Recessive +7 more	GBenign
Select item 99682	NM_004183.4(BEST1):c.1608T>C (p.Thr536=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Vitelliform macular dystrophy 2 +7 more	GBenign
Select item 99684	NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)	BEST1, FTH1 (E557K +4 more)	Single nucleotide variant (missense variant +2 more)	Iron Overload +5 more	GConflicting classifications of pathogenicity
Select item 99686	NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe)	BEST1, FTH1 (L567F +4 more)	Single nucleotide variant (missense variant +2 more)	Iron Overload +5 more	GLikely benign
Select item 305132	NM_004183.4(BEST1):c.*24C>T	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Vitelliform macular dystrophy 2 +5 more	GConflicting classifications of pathogenicity
Select item 305133	NM_004183.4(BEST1):c.*133T>C	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Iron Overload +5 more	GBenign/Likely benign
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 305135	NM_002032.3(FTH1):c.*389A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 305136	NM_002032.3(FTH1):c.*385T>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Iron Overload	GUncertain significance
Select item 880474	NM_002032.3(FTH1):c.*336A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +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 305138	NM_002032.3(FTH1):c.*312A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 305139	NM_002032.3(FTH1):c.*222C>T	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant vitreoretinochoroidopathy +5 more	GBenign
Select item 305140	NM_002032.3(FTH1):c.*165T>C	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 5	GUncertain significance
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 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 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 305143	NM_002032.3(FTH1):c.387+12A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Hemochromatosis type 5 +5 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 305145	NM_002032.3(FTH1):c.161A>G (p.Lys54Arg)	BEST1, FTH1 (K54R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant vitreoretinochoroidopathy +6 more	GBenign/Likely benign
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 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 879333	NM_002032.3(FTH1):c.-14C>T	FTH1, LOC399900	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 5	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 305147	NM_002032.3(FTH1):c.-204A>G	FTH1, LOC399900	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 5	GUncertain significance
Select item 305148	NM_002032.2(FTH1):c.-221G>A	FTH1, LOC130005817 +1 more	Single nucleotide variant (non-coding transcript variant)	Iron Overload	GUncertain significance
Select item 305149	NM_002032.2(FTH1):c.-231G>A	FTH1, LOC130005817 +1 more	Single nucleotide variant (non-coding transcript variant)	Iron Overload	GUncertain significance

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Items: 34