ClinVar for Gene (Select 2512) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068845	NM_000146.4(FTL):c.-17CTT[1]	FTL	Microsatellite (5 prime UTR variant)	not specified	GUncertain significance
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 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 3054362	NM_002103.5(GYS1):c.*1121C>G	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related condition	GBenign
Select item 3043681	NM_000146.4(FTL):c.48C>G (p.Ala16=)	FTL, LOC130064892	Single nucleotide variant (synonymous variant)	FTL-related condition	GLikely benign
Select item 3029216	NM_002103.5(GYS1):c.*367C>T	FTL, GYS1	Single nucleotide variant (non-coding transcript variant +1 more)	FTL-related condition	GLikely benign
Select item 2949486	NM_000146.4(FTL):c.-10C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2948013	NM_000146.4(FTL):c.488G>A (p.Gly163Asp)	FTL (G163D)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2947636	NC_000019.10:g.48965301dup	FTL	Duplication	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2946401	NM_000146.4(FTL):c.391G>A (p.Glu131Lys)	FTL (E131K)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2945666	NM_000146.4(FTL):c.-179G>A	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2943918	NM_000146.4(FTL):c.336G>A (p.Leu112=)	FTL	Single nucleotide variant (synonymous variant)	Neuroferritinopathy +1 more	GLikely benign
Select item 2939826	NC_000019.10:g.48965270G>C	FTL, LOC130064891	Single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2937593	NM_000146.4(FTL):c.156C>T (p.Phe52=)	FTL	Single nucleotide variant (synonymous variant)	Neuroferritinopathy +1 more	GLikely benign
Select item 2936490	NM_000146.4(FTL):c.249+4A>G	FTL	Single nucleotide variant (intron variant)	Neuroferritinopathy +1 more	GLikely benign
Select item 2934959	NM_000146.4(FTL):c.376-15C>T	FTL	Single nucleotide variant (intron variant)	Hereditary hyperferritinemia with congenital cataracts +2 more	GLikely benign
Select item 2934490	NM_000146.4(FTL):c.-181G>A	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2933497	NM_000146.4(FTL):c.229G>A (p.Ala77Thr)	FTL (A77T)	Single nucleotide variant (missense variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 2930252	NM_000146.4(FTL):c.-95C>A	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2929442	NM_000146.4(FTL):c.102G>A (p.Leu34=)	FTL	Single nucleotide variant (synonymous variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2928184	NM_000146.4(FTL):c.102+20C>T	FTL	Single nucleotide variant (intron variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GLikely benign
Select item 2928097	NM_000146.4(FTL):c.-144A>T	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2926701	NM_000146.4(FTL):c.376-11T>C	FTL	Single nucleotide variant (intron variant)	Neuroferritinopathy +1 more	GLikely benign
Select item 2922839	NM_000146.4(FTL):c.-186C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 2922031	NC_000019.10:g.48965305C>T	FTL	Single nucleotide variant	Neuroferritinopathy +1 more	GUncertain significance
Select item 2682239	NM_000146.4(FTL):c.231T>G (p.Ala77=)	FTL	Single nucleotide variant (synonymous variant)	not specified	GLikely 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 2650226	NM_000146.4(FTL):c.248A>G (p.Lys83Arg)	FTL (K83R)	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 2650224	NM_000146.4(FTL):c.-184C>T	FTL	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 2535732	NM_000146.4(FTL):c.254C>T (p.Pro85Leu)	FTL (P85L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506144	NM_000146.4(FTL):c.213C>A (p.Asn71Lys)	FTL (N71K)	Single nucleotide variant (missense variant)	not specified	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 2478434	NM_000146.4(FTL):c.296C>G (p.Ala99Gly)	FTL (A99G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422462	NC_000019.9:g.(?_49468350)_(49481434_?)del	FTL, GYS1	Deletion	Neuroferritinopathy +1 more	GUncertain significance
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 2275712	NM_000146.4(FTL):c.272G>T (p.Gly91Val)	FTL (G91V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200495	NM_000146.4(FTL):c.501C>T (p.Phe167=)	FTL	Single nucleotide variant (synonymous variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GLikely benign
Select item 2197338	NM_000146.4(FTL):c.-151A>G	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GPathogenic
Select item 2183769	NM_000146.4(FTL):c.417G>A (p.Val139=)	FTL	Single nucleotide variant (synonymous variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GLikely benign
Select item 2181028	NM_000146.4(FTL):c.189C>A (p.Tyr63Ter)	FTL (Y63*)	Single nucleotide variant (nonsense)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2163720	NM_000146.4(FTL):c.253C>T (p.Pro85Ser)	FTL (P85S)	Single nucleotide variant (missense variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 2156715	NM_000146.4(FTL):c.375T>C (p.His125=)	FTL	Single nucleotide variant (synonymous variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2156473	NM_000146.4(FTL):c.249+6T>C	FTL	Single nucleotide variant (intron variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2153839	NC_000019.10:g.48965303C>T	FTL	Single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2138316	NM_000146.4(FTL):c.-153G>A	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 2105025	NM_000146.4(FTL):c.515_516del (p.Leu172fs)	FTL (L172fs)	Microsatellite (frameshift variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 2099950	NM_000146.4(FTL):c.-126C>A	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
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 2050794	NM_000146.4(FTL):c.-143G>A	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 2048854	NM_000146.4(FTL):c.288C>T (p.Ala96=)	FTL	Single nucleotide variant (synonymous variant)	Neuroferritinopathy +1 more	GLikely benign
Select item 2041512	NM_000146.4(FTL):c.460_461delinsCCA (p.Arg154fs)	FTL (R154fs)	Indel (frameshift variant)	Neuroferritinopathy +1 more	GPathogenic
Select item 2041032	NM_000146.4(FTL):c.-9C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GLikely benign
Select item 2040491	NM_000146.4(FTL):c.285C>T (p.Asp95=)	FTL	Single nucleotide variant (synonymous variant)	Neuroferritinopathy +1 more	GLikely benign
Select item 2036953	NC_000019.10:g.48965263G>C	FTL, LOC130064891	Single nucleotide variant	Neuroferritinopathy +1 more	GUncertain significance
Select item 1962539	NM_000146.4(FTL):c.-111C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1956032	NM_000146.4(FTL):c.375+15C>A	FTL	Single nucleotide variant (intron variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GLikely benign
Select item 1930181	NM_000146.4(FTL):c.-56G>T	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 1907756	NM_000146.4(FTL):c.463C>T (p.Leu155=)	FTL	Single nucleotide variant (synonymous variant)	Neuroferritinopathy +1 more	GLikely benign
Select item 1900989	NM_000146.4(FTL):c.271G>T (p.Gly91Cys)	FTL (G91C)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 1881256	NM_000146.4(FTL):c.-24T>C	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1712803	NM_000146.4(FTL):c.-189G>C	FTL	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1698388	NM_000146.4(FTL):c.474G>A (p.Pro158=)	FTL	Single nucleotide variant (synonymous variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GLikely benign
Select item 1698387	NM_000146.4(FTL):c.460dup (p.Arg154fs)	FTL (R154fs)	Duplication (frameshift variant)	Neuroferritinopathy +1 more	GPathogenic
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 1686694	NM_000146.4(FTL):c.-150C>A	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +2 more	GPathogenic/Likely pathogenic
Select item 1684753	NM_000146.4(FTL):c.311A>G (p.Glu104Gly)	FTL (E104G)	Single nucleotide variant (missense variant)	Neuroferritinopathy +2 more	GUncertain significance
Select item 1673575	NM_000146.4(FTL):c.199C>T (p.Leu67=)	FTL	Single nucleotide variant (synonymous variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GLikely benign
Select item 1661412	NM_000146.4(FTL):c.249+9T>G	FTL	Single nucleotide variant (intron variant)	Neuroferritinopathy +1 more	GLikely benign
Select item 1622336	NM_000146.4(FTL):c.319C>T (p.Leu107=)	FTL	Single nucleotide variant (synonymous variant)	Neuroferritinopathy +1 more	GLikely benign
Select item 1617389	NC_000019.10:g.48965306del	FTL	Deletion	Neuroferritinopathy +1 more	GLikely benign
Select item 1611982	NM_000146.4(FTL):c.102+14A>G	FTL	Single nucleotide variant (intron variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GLikely benign
Select item 1595257	NM_000146.4(FTL):c.-121C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GBenign
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 1520210	NM_000146.4(FTL):c.-193C>G	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1520036	NM_000146.4(FTL):c.139G>C (p.Gly47Arg)	FTL (G47R)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 1513118	NM_000146.4(FTL):c.263A>G (p.Asp88Gly)	FTL (D88G)	Single nucleotide variant (missense variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1512412	NM_000146.4(FTL):c.379T>C (p.Cys127Arg)	FTL (C127R)	Single nucleotide variant (missense variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1509909	NM_000146.4(FTL):c.113T>C (p.Phe38Ser)	FTL (F38S)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 1501803	NM_000146.4(FTL):c.-189G>T	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1500854	NM_000146.4(FTL):c.375+5G>A	FTL	Single nucleotide variant (intron variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1492226	NM_000146.4(FTL):c.218G>T (p.Arg73Leu)	FTL (R73L)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 1482545	NM_000146.4(FTL):c.-196G>C	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1464202	NC_000019.10:g.48965263G>A	FTL, LOC130064891	Single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 1463366	NM_000146.4(FTL):c.124G>A (p.Asp42Asn)	FTL (D42N)	Single nucleotide variant (missense variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1436901	NM_000146.4(FTL):c.492G>T (p.Glu164Asp)	FTL (E164D)	Single nucleotide variant (missense variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1420487	NC_000019.10:g.48965277C>T	FTL, LOC130064891	Single nucleotide variant	Neuroferritinopathy +1 more	GUncertain significance
Select item 1416345	NM_000146.4(FTL):c.-170T>C	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1415647	NM_000146.4(FTL):c.-177C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1412025	NM_000146.4(FTL):c.-134A>T	FTL	Single nucleotide variant (5 prime UTR variant)	FTL-related condition +2 more	GUncertain significance
Select item 1406481	NM_000146.4(FTL):c.-184C>G	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1404702	NM_000146.4(FTL):c.375+4C>T	FTL	Single nucleotide variant (intron variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1399868	NM_000146.4(FTL):c.256G>C (p.Ala86Pro)	FTL (A86P)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 1384520	NM_000146.4(FTL):c.-51dup	FTL	Duplication (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1382272	NM_000146.4(FTL):c.247A>G (p.Lys83Glu)	FTL (K83E)	Single nucleotide variant (missense variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1376747	NM_000146.4(FTL):c.523G>T (p.Asp175Tyr)	FTL (D175Y)	Single nucleotide variant (missense variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1348591	NM_000146.4(FTL):c.17G>A (p.Arg6His)	FTL (R6H)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 1347841	NM_000146.4(FTL):c.-190C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance

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