"Ambry Genetics"[submitter] AND "FTL"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1049905	NM_000146.4(FTL):c.155T>G (p.Phe52Cys)	FTL (F52C)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +2 more	GConflicting classifications of pathogenicity
Select item 2535732	NM_000146.4(FTL):c.254C>T (p.Pro85Leu)	FTL (P85L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275712	NM_000146.4(FTL):c.272G>T (p.Gly91Val)	FTL (G91V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097383	NM_000146.4(FTL):c.290T>C (p.Met97Thr)	FTL (M97T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478434	NM_000146.4(FTL):c.296C>G (p.Ala99Gly)	FTL (A99G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 96690	NM_000146.4(FTL):c.310G>T (p.Glu104Ter)	FTL (E104*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2607020	NM_000146.4(FTL):c.320T>G (p.Leu107Arg)	FTL (L107R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 893264	NM_000146.4(FTL):c.362G>A (p.Arg121His)	FTL (R121H)	Single nucleotide variant (missense variant)	Neuroferritinopathy +2 more	GConflicting classifications of pathogenicity
Select item 2316565	NM_000146.4(FTL):c.430A>C (p.Lys144Gln)	FTL (K144Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 800272	NM_000146.4(FTL):c.520C>T (p.His174Tyr)	FTL (H174Y)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +2 more	GLikely benign