2512[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 1236966	NC_000019.10:g.48965095C>A	FTL	Single nucleotide variant	not provided	GBenign
Select item 1300943	NC_000019.10:g.48965159G>A	FTL, LOC130064891	Single nucleotide variant	not provided	GLikely benign
Select item 2036953	NC_000019.10:g.48965263G>C	FTL, LOC130064891	Single nucleotide variant	Neuroferritinopathy +1 more	GUncertain significance
Select item 1464202	NC_000019.10:g.48965263G>A	FTL, LOC130064891	Single nucleotide variant	Neuroferritinopathy +1 more	GUncertain significance
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 1420487	NC_000019.10:g.48965277C>T	FTL, LOC130064891	Single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2947636	NC_000019.10:g.48965301dup	FTL	Duplication	Neuroferritinopathy +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 1617389	NC_000019.10:g.48965306del	FTL	Deletion	Hereditary hyperferritinemia with congenital cataracts +1 more	GLikely benign
Select item 2922031	NC_000019.10:g.48965305C>T	FTL	Single nucleotide variant	Neuroferritinopathy +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 1520210	NM_000146.4(FTL):c.-193C>G	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +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 16478	NM_000146.4(FTL):c.-189_-161del	FTL	Deletion (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts	GPathogenic
Select item 1712803	NM_000146.4(FTL):c.-189G>C	FTL	Single nucleotide variant (5 prime UTR variant)	not provided	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 2922839	NM_000146.4(FTL):c.-186C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +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 2650224	NM_000146.4(FTL):c.-184C>T	FTL	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1406481	NM_000146.4(FTL):c.-184C>G	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 487347	NM_000146.4(FTL):c.-182C>T	FTL	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2934490	NM_000146.4(FTL):c.-181G>A	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 2945666	NM_000146.4(FTL):c.-179G>A	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 487345	NM_000146.4(FTL):c.-178T>G	FTL	Single nucleotide variant (5 prime UTR variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 441527	NM_000146.3(FTL):c.[-178T>G;-182C>T]	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts	GPathogenic
Select item 16484	NM_000146.4(FTL):c.-175_-170del	FTL	Deletion (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts	GPathogenic
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 894090	NM_000146.4(FTL):c.-173C>G	FTL	Single nucleotide variant (5 prime UTR 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 16485	NM_000146.4(FTL):c.-168G>C	FTL	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 16479	NM_000146.4(FTL):c.-168G>T	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +2 more	GPathogenic
Select item 16476	NM_000146.4(FTL):c.-168G>A	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GPathogenic
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 1052512	NM_000146.4(FTL):c.-166T>C	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GLikely pathogenic
Select item 96691	NM_000146.4(FTL):c.-164C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts	GPathogenic
Select item 16481	NM_000146.4(FTL):c.-164C>A	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GPathogenic
Select item 1303900	NM_000146.4(FTL):c.-161_-160del	FTL	Deletion (5 prime UTR variant)	not provided	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 16480	NM_000146.4(FTL):c.-161C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +3 more	GPathogenic/Likely pathogenic
Select item 16474	NM_000146.4(FTL):c.-160A>G	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +2 more	GPathogenic
Select item 16475	NM_000146.4(FTL):c.-159G>C	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts	GPathogenic
Select item 647521	NM_000146.4(FTL):c.-157G>A	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GPathogenic
Select item 2138316	NM_000146.4(FTL):c.-153G>A	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 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 1686694	NM_000146.4(FTL):c.-150C>A	FTL	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 16482	NM_000146.4(FTL):c.-149G>C	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +2 more	GLikely pathogenic
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 3367332	NM_000146.4(FTL):c.-144A>G	FTL	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2928097	NM_000146.4(FTL):c.-144A>T	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 2050794	NM_000146.4(FTL):c.-143G>A	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
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 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 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 1595257	NM_000146.4(FTL):c.-121C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +2 more	GConflicting classifications of pathogenicity
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 2930252	NM_000146.4(FTL):c.-95C>A	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 329784	NM_000146.4(FTL):c.-92T>C	FTL	Single nucleotide variant (5 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 1930181	NM_000146.4(FTL):c.-56G>T	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +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 329785	NM_000146.4(FTL):c.-46C>A	FTL	Single nucleotide variant (5 prime UTR 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)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 3068845	NM_000146.4(FTL):c.-17CTT[1]	FTL	Microsatellite (5 prime UTR variant)	not specified	GUncertain significance
Select item 2949486	NM_000146.4(FTL):c.-10C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Neuroferritinopathy +1 more	GUncertain significance
Select item 2041032	NM_000146.4(FTL):c.-9C>T	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GLikely benign
Select item 96689	NM_000146.4(FTL):c.1A>G (p.Met1Val)	FTL (M1V)	Single nucleotide variant (missense variant +1 more)	L-ferritin deficiency +4 more	GConflicting classifications of pathogenicity
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 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 1554561	NM_000146.4(FTL):c.42G>A (p.Glu14=)	FTL, LOC130064892	Single nucleotide variant (synonymous variant)	Neuroferritinopathy +1 more	GLikely benign
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 3043681	NM_000146.4(FTL):c.48C>G (p.Ala16=)	FTL, LOC130064892	Single nucleotide variant (synonymous variant)	FTL-related disorder	GLikely benign
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 329786	NM_000146.4(FTL):c.73C>T (p.Leu25=)	LOC130064892, FTL	Single nucleotide variant (synonymous variant)	Neuroferritinopathy +2 more	GBenign/Likely benign
Select item 696650	NM_000146.4(FTL):c.87C>T (p.Tyr29=)	FTL, LOC130064892	Single nucleotide variant (synonymous variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GLikely benign
Select item 39583	NM_000146.4(FTL):c.89C>T (p.Thr30Ile)	FTL, LOC130064892 (T30I)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts	GLikely pathogenic
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 2929442	NM_000146.4(FTL):c.102G>A (p.Leu34=)	FTL	Single nucleotide variant (synonymous variant)	Neuroferritinopathy +1 more	GUncertain significance
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 2928184	NM_000146.4(FTL):c.102+20C>T	FTL	Single nucleotide variant (intron variant)	Neuroferritinopathy +1 more	GLikely 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 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 1463366	NM_000146.4(FTL):c.124G>A (p.Asp42Asn)	FTL (D42N)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +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 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 1319503	NM_000146.4(FTL):c.143T>G (p.Val48Gly)	FTL (V48G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049905	NM_000146.4(FTL):c.155T>G (p.Phe52Cys)	FTL (F52C)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +2 more	GConflicting classifications of pathogenicity
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 156440	NM_000146.4(FTL):c.163T>C (p.Leu55=)	FTL, GYS1	Single nucleotide variant (synonymous variant)	Neuroferritinopathy +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 1334853	NM_000146.4(FTL):c.173dup (p.Lys59fs)	FTL (K59fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 1298779	NM_000146.4(FTL):c.172G>T (p.Glu58Ter)	FTL (E58*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1040858	NM_000146.4(FTL):c.178C>T (p.Arg60Cys)	FTL (R60C)	Single nucleotide variant (missense variant)	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
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

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