"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "FTL"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2650224	NM_000146.4(FTL):c.-184C>T	FTL	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 16479	NM_000146.4(FTL):c.-168G>T	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +3 more	GPathogenic
Select item 16474	NM_000146.4(FTL):c.-160A>G	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +2 more	GPathogenic
Select item 96689	NM_000146.4(FTL):c.1A>G (p.Met1Val)	FTL (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +3 more	GConflicting classifications of pathogenicity
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 2650225	NM_000146.4(FTL):c.93C>T (p.Tyr31=)	FTL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 444478	NM_000146.4(FTL):c.96C>T (p.Leu32=)	FTL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1298779	NM_000146.4(FTL):c.172G>T (p.Glu58Ter)	FTL (E58*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 634430	NM_000146.4(FTL):c.190G>A (p.Glu64Lys)	FTL (E64K)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +3 more	GUncertain significance
Select item 2498789	NM_000146.4(FTL):c.193C>T (p.Arg65Cys)	FTL (R65C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650226	NM_000146.4(FTL):c.248A>G (p.Lys83Arg)	FTL (K83R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425194	NM_000146.4(FTL):c.250-6A>G	FTL	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2672781	NM_000146.4(FTL):c.361C>T (p.Arg121Cys)	FTL (R121C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335356	NM_000146.4(FTL):c.390G>C (p.Leu130=)	FTL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 546849	NM_000146.4(FTL):c.436G>A (p.Gly146Ser)	FTL (G146S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 329787	NM_000146.4(FTL):c.522C>T (p.His174=)	FTL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 369281	NM_002103.5(GYS1):c.2043C>T (p.Ala681=)	FTL, GYS1	Single nucleotide variant (synonymous variant +1 more)	GYS1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 329809	NM_002103.5(GYS1):c.1848C>T (p.Ala616=)	FTL, GYS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +3 more	GConflicting classifications of pathogenicity