Related gene-specific medical variations for Gene (Select 2512) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068840	NM_000146.4(FTL):c.47C>T (p.Ala16Val)	FTL, LOC130064892 (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043681	NM_000146.4(FTL):c.48C>G (p.Ala16=)	FTL, LOC130064892	Single nucleotide variant (synonymous variant)	FTL-related disorder	GLikely benign
Select item 2061955	NM_000146.4(FTL):c.71A>T (p.Tyr24Phe)	FTL, LOC130064892 (Y24F)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 1698386	NM_000146.4(FTL):c.442dup (p.His148fs)	FTL (H148fs)	Duplication (frameshift variant)	Neuroferritinopathy	Gnot provided
Select item 1698385	NM_000146.4(FTL):c.439_442dup (p.His148fs)	FTL (H148fs)	Duplication (frameshift variant)	Neuroferritinopathy	Gnot provided
Select item 1554561	NM_000146.4(FTL):c.42G>A (p.Glu14=)	FTL, LOC130064892	Single nucleotide variant (synonymous variant)	Neuroferritinopathy +1 more	GLikely benign
Select item 1319503	NM_000146.4(FTL):c.143T>G (p.Val48Gly)	FTL (V48G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 696650	NM_000146.4(FTL):c.87C>T (p.Tyr29=)	FTL, LOC130064892	Single nucleotide variant (synonymous variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GLikely benign
Select item 493265	NM_000146.4(FTL):c.92A>G (p.Tyr31Cys)	FTL (Y31C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 487345	NM_000146.4(FTL):c.-178T>G	FTL	Single nucleotide variant (5 prime UTR variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 329786	NM_000146.4(FTL):c.73C>T (p.Leu25=)	FTL, LOC130064892	Single nucleotide variant (synonymous variant)	FTL-related disorder +3 more	GBenign/Likely benign
Select item 39583	NM_000146.4(FTL):c.89C>T (p.Thr30Ile)	FTL, LOC130064892 (T30I)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts	GLikely pathogenic