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

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 894089	NM_000146.4(FTL):c.-186C>A	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 894090	NM_000146.4(FTL):c.-173C>G	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 329784	NM_000146.4(FTL):c.-92T>C	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 894091	NM_000146.4(FTL):c.-86C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 329785	NM_000146.4(FTL):c.-46C>A	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 329786	NM_000146.4(FTL):c.73C>T (p.Leu25=)	FTL, LOC130064892	Single nucleotide variant (synonymous variant)	FTL-related condition +3 more	GBenign/Likely benign
Select item 894481	NM_000146.4(FTL):c.103-14A>G	FTL	Single nucleotide variant (intron variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GBenign
Select item 894480	NM_000146.4(FTL):c.103-14A>C	FTL	Single nucleotide variant (intron variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GConflicting classifications of pathogenicity
Select item 156440	NM_000146.4(FTL):c.163T>C (p.Leu55=)	FTL, GYS1	Single nucleotide variant (synonymous variant)	Hereditary hyperferritinemia with congenital cataracts +5 more	GBenign
Select item 156439	NM_000146.4(FTL):c.169G>A (p.Glu57Lys)	FTL (E57K)	Single nucleotide variant (missense variant)	Neuroferritinopathy +3 more	GConflicting classifications of pathogenicity
Select item 893056	NM_000146.4(FTL):c.181G>A (p.Glu61Lys)	FTL (E61K)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 893057	NM_000146.4(FTL):c.232C>T (p.Leu78Phe)	FTL (L78F)	Single nucleotide variant (missense variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 893262	NM_000146.4(FTL):c.234C>T (p.Leu78=)	FTL	Single nucleotide variant (synonymous variant)	Hereditary hyperferritinemia with congenital cataracts +2 more	GBenign/Likely benign
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 893263	NM_000146.4(FTL):c.324C>T (p.Asn108=)	FTL	Single nucleotide variant (synonymous variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 893264	NM_000146.4(FTL):c.362G>A (p.Arg121His)	FTL (R121H)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +2 more	GConflicting classifications of pathogenicity
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 158603	NM_000146.4(FTL):c.*8C>T	FTL	Single nucleotide variant (3 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GConflicting classifications of pathogenicity
Select item 329788	NM_000146.4(FTL):c.*24C>T	FTL	Single nucleotide variant (3 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GBenign
Select item 894125	NM_000146.4(FTL):c.*76G>A	FTL	Single nucleotide variant (3 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 329789	NM_000146.4(FTL):c.*131A>T	FTL	Single nucleotide variant (3 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 329790	NM_002103.5(GYS1):c.1113_1116del	FTL, GYS1	Deletion (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 329792	NM_002103.5(GYS1):c.*908G>A	FTL, GYS1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +3 more	GLikely benign
Select item 329793	NM_002103.5(GYS1):c.*868A>G	FTL, GYS1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related condition +3 more	GConflicting classifications of pathogenicity
Select item 329794	NM_002103.5(GYS1):c.*841A>G	FTL, GYS1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +3 more	GLikely benign
Select item 329796	NM_002103.5(GYS1):c.*725C>T	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +3 more	GBenign/Likely benign
Select item 329797	NM_002103.5(GYS1):c.*659C>T	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related condition +3 more	GConflicting classifications of pathogenicity
Select item 369275	NM_002103.5(GYS1):c.*611C>T	FTL, GYS1	Single nucleotide variant (non-coding transcript variant +1 more)	Neuroferritinopathy +2 more	GLikely benign
Select item 329799	NM_002103.5(GYS1):c.*450G>A	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +3 more	GLikely benign
Select item 369277	NM_002103.5(GYS1):c.*421A>G	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +2 more	GLikely benign
Select item 329800	NM_002103.5(GYS1):c.*370A>C	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +2 more	GConflicting classifications of pathogenicity
Select item 329801	NM_002103.5(GYS1):c.*301G>A	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 329804	NM_002103.5(GYS1):c.2207G>A (p.Arg736His)	FTL, GYS1 (R736H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +2 more	GConflicting classifications of pathogenicity
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 329805	NM_002103.5(GYS1):c.2013C>T (p.Asp671=)	FTL, GYS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +3 more	GConflicting classifications of pathogenicity
Select item 329808	NM_002103.5(GYS1):c.1926G>A (p.Val642=)	FTL, GYS1	Single nucleotide variant (synonymous variant +1 more)	Neuroferritinopathy +3 more	GBenign/Likely benign
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
Select item 369285	NM_002103.5(GYS1):c.1749C>A (p.Ile583=)	FTL, GYS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +3 more	GBenign/Likely benign
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)	GYS1-related condition +4 more	GConflicting classifications of pathogenicity

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Items: 39