HFE[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar

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Items: 23

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14549851.	NM_000410.4(HFE):c.279del (p.Trp94fs) GRCh37: Chr6:26091269 GRCh38: Chr6:26091041	HFE	W71fs, W94fs	Hereditary hemochromatosis	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 132.	NM_000410.4(HFE):c.277G>C (p.Gly93Arg) GRCh37: Chr6:26091269 GRCh38: Chr6:26091041	HFE	G93R, G70R	Hemochromatosis type 1	Pathogenic (Jun 1, 1999)	no assertion criteria provided
Select item 16775413.	NM_000410.4(HFE):c.340+1G>C GRCh37: Chr6:26091333 GRCh38: Chr6:26091105	HFE		not provided	Likely pathogenic (Oct 4, 2021)	criteria provided, single submitter
Select item 8457674.	NM_000410.4(HFE):c.341-1G>A GRCh37: Chr6:26091541 GRCh38: Chr6:26091313	HFE		Hereditary hemochromatosis	Likely pathogenic (Dec 17, 2019)	criteria provided, single submitter
Select item 175.	NM_000410.4(HFE):c.381A>C (p.Gln127His) GRCh37: Chr6:26091582 GRCh38: Chr6:26091354	HFE	Q127H, Q104H, Q39H	Hemochromatosis type 1	Pathogenic (Aug 1, 1999)	no assertion criteria provided
Select item 20167316.	NM_000410.4(HFE):c.407G>A (p.Trp136Ter) GRCh37: Chr6:26091608 GRCh38: Chr6:26091380	HFE	W136, W48, W113*	Hereditary hemochromatosis	Pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 14588867.	NM_000410.4(HFE):c.414C>G (p.Tyr138Ter) GRCh37: Chr6:26091615 GRCh38: Chr6:26091387	HFE	Y115, Y138, Y50*	Hereditary hemochromatosis	Pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 10727138.	NM_000410.4(HFE):c.480del (p.Arg161fs) GRCh37: Chr6:26091679 GRCh38: Chr6:26091451	HFE	R138fs, R161fs, R73fs	Hereditary hemochromatosis	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 889469.	NM_000410.4(HFE):c.502G>T (p.Glu168Ter) GRCh37: Chr6:26091703 GRCh38: Chr6:26091475	HFE	E168, E145, E80*	Hereditary hemochromatosis	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 40707910.	NM_000410.4(HFE):c.546_547del (p.Leu183fs) GRCh37: Chr6:26091747-26091748 GRCh38: Chr6:26091519-26091520	HFE	L183fs, L95fs, L160fs	Microvascular complications of diabetes, susceptibility to, 7, Alzheimer disease type 1, Variegate porphyria, Familial porphyria cutanea tarda, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2, Hemochromatosis type 1, Hereditary hemochromatosis	Pathogenic/Likely pathogenic (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215218911.	NM_000410.4(HFE):c.548T>C (p.Leu183Pro) GRCh37: Chr6:26091749 GRCh38: Chr6:26091521	HFE	L183P, L95P, L160P	Hereditary hemochromatosis	Pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 205474112.	NM_000410.4(HFE):c.616+1G>T GRCh37: Chr6:26091818 GRCh38: Chr6:26091590	HFE		Hereditary hemochromatosis	Pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 145603013.	NM_000410.4(HFE):c.626del (p.Leu209fs) GRCh37: Chr6:26092920 GRCh38: Chr6:26092692	HFE	L117fs, L121fs, L209fs, L29fs, L186fs	Hereditary hemochromatosis	Pathogenic (Apr 16, 2021)	criteria provided, single submitter
Select item 121727914.	NM_000410.4(HFE):c.688TAC[1] (p.Tyr231del) GRCh37: Chr6:26092982-26092984 GRCh38: Chr6:26092754-26092756	HFE	Y125del, Y129del, Y139del, Y143del, Y208del, Y217del, Y231del, Y51del, Y228del	Hemochromatosis type 1	Likely pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 212687715.	NM_000410.4(HFE):c.760A>T (p.Lys254Ter) GRCh37: Chr6:26093056 GRCh38: Chr6:26092828	HFE	K251, K254, K74, K152, K148, K162, K166, K231, K240*	Hereditary hemochromatosis	Pathogenic (Apr 16, 2022)	criteria provided, single submitter
Select item 53039316.	NM_000410.4(HFE):c.762del (p.Asp255fs) GRCh37: Chr6:26093056 GRCh38: Chr6:26092828	HFE	D149fs, D153fs, D255fs, D167fs, D232fs, D241fs, D163fs, D75fs	Hereditary hemochromatosis	Pathogenic (Nov 16, 2017)	criteria provided, single submitter
Select item 219917517.	NM_000410.4(HFE):c.832C>T (p.Gln278Ter) GRCh37: Chr6:26093128 GRCh38: Chr6:26092900	HFE	Q176, Q255, Q264, Q172, Q186, Q275, Q278, Q190, Q98*	Hereditary hemochromatosis	Pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 1918.	NM_000410.4(HFE):c.848A>C (p.Gln283Pro) GRCh37: Chr6:26093144 GRCh38: Chr6:26092916	HFE	Q283P, Q191P, Q269P, Q103P, Q177P, Q195P, Q260P, Q181P, Q280P	Hereditary hemochromatosis	Pathogenic (Sep 12, 2022)	criteria provided, single submitter
Select item 40707319.	NM_000410.4(HFE):c.892G>T (p.Glu298Ter) GRCh37: Chr6:26093188 GRCh38: Chr6:26092960	HFE	E298, E118, E196, E275, E284, E192, E210, E206, E295*	Hereditary hemochromatosis	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 95045020.	NM_000410.4(HFE):c.892+1G>T GRCh37: Chr6:26093189 GRCh38: Chr6:26092961	HFE		Hereditary hemochromatosis	Likely pathogenic (Jun 18, 2019)	criteria provided, single submitter
Select item 1821.	NM_000410.4(HFE):c.989G>T (p.Arg330Met) GRCh37: Chr6:26093443 GRCh38: Chr6:26093215	HFE	R330M, R150M, R242M, R316M, R224M, R228M, R238M, R307M, R58M, R327M	Hemochromatosis type 1	Pathogenic (Aug 1, 1999)	no assertion criteria provided
Select item 106563722.	NM_000410.4(HFE):c.1006+1G>A GRCh37: Chr6:26093461 GRCh38: Chr6:26093233	HFE		Alzheimer disease type 1, Variegate porphyria, Microvascular complications of diabetes, susceptibility to, 7, Familial porphyria cutanea tarda, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2, Hemochromatosis type 1, Hereditary hemochromatosis, not provided	Pathogenic/Likely pathogenic (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 107103723.	NM_000410.4(HFE):c.1022_1034del (p.His341fs) GRCh37: Chr6:26094427-26094439 GRCh38: Chr6:26094199-26094211	HFE	H161fs, H235fs, H239fs, H249fs, H253fs, H318fs, H327fs, H341fs, H69fs, H338fs	not provided, Hereditary hemochromatosis	Pathogenic (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts

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Items: 23