"PreventionGenetics, part of Exact Sciences"[submitter] AND "FTL"[gene - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1236966	NC_000019.10:g.48965095C>A	FTL	Single nucleotide variant	not provided +1 more	GBenign
Select item 16479	NM_000146.4(FTL):c.-168G>T	FTL	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GPathogenic
Select item 1412025	NM_000146.4(FTL):c.-134A>T	FTL	Single nucleotide variant (5 prime UTR variant)	FTL-related disorder +2 more	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 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 156440	NM_000146.4(FTL):c.163T>C (p.Leu55=)	FTL, GYS1	Single nucleotide variant (synonymous variant)	Neuroferritinopathy +5 more	GBenign
Select item 893262	NM_000146.4(FTL):c.234C>T (p.Leu78=)	FTL	Single nucleotide variant (synonymous variant)	FTL-related disorder +2 more	GBenign/Likely benign
Select item 3054362	NM_002103.5(GYS1):c.*1121C>G	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related disorder	GBenign
Select item 329793	NM_002103.5(GYS1):c.*868A>G	LOC130064893, FTL +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 329797	NM_002103.5(GYS1):c.*659C>T	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3029216	NM_002103.5(GYS1):c.*367C>T	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related disorder	GLikely benign
Select item 369281	NM_002103.5(GYS1):c.2043C>T (p.Ala681=)	FTL, GYS1	Single nucleotide variant (synonymous variant +1 more)	GYS1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 329810	NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys)	FTL, GYS1 +1 more (E539K +1 more)	Single nucleotide variant (missense variant +1 more)	Neuroferritinopathy +4 more	GConflicting classifications of pathogenicity