ClinVar for MedGen (Select 318812) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not specified +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 2422462	NC_000019.9:g.(?_49468350)_(49481434_?)del	FTL, GYS1	Deletion	Neuroferritinopathy +1 more	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 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 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
Select item 1346146	NM_000146.4(FTL):c.-153G>T	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 1345550	NM_000146.4(FTL):c.139G>T (p.Gly47Cys)	FTL (G47C)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 1321316	NM_000146.4(FTL):c.-161C>G	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts	GPathogenic
Select item 1063581	NM_000146.4(FTL):c.-139C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 1052512	NM_000146.4(FTL):c.-166T>C	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GLikely pathogenic
Select item 1049905	NM_000146.4(FTL):c.155T>G (p.Phe52Cys)	FTL (F52C)	Single nucleotide variant (missense variant)	Neuroferritinopathy +2 more	GConflicting classifications of pathogenicity
Select item 1040858	NM_000146.4(FTL):c.178C>T (p.Arg60Cys)	FTL (R60C)	Single nucleotide variant (missense variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1017882	NM_000146.4(FTL):c.473C>T (p.Pro158Leu)	FTL (P158L)	Single nucleotide variant (missense variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1009717	NM_000146.4(FTL):c.-148G>C	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 1001552	NM_000146.4(FTL):c.261A>C (p.Glu87Asp)	FTL (E87D)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 963917	NM_000146.4(FTL):c.-167C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GPathogenic
Select item 960669	NM_000146.4(FTL):c.302T>C (p.Met101Thr)	FTL (M101T)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 948940	NM_000146.4(FTL):c.466G>A (p.Gly156Ser)	FTL (G156S)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 940706	NM_000146.4(FTL):c.12G>C (p.Gln4His)	FTL (Q4H)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
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 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 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 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 894089	NM_000146.4(FTL):c.-186C>A	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +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 +1 more	GConflicting classifications of pathogenicity

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