ClinVar for MedGen (Select 140272) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24246561.	NC_000007.13:g.(?_100226866)_(100227005_?)del GRCh37: Chr7:100226866-100227005	TFR2		Hereditary hemochromatosis	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 24220972.	NM_003227.4(TFR2):c.2382C>T (p.Val794=) GRCh37: Chr7:100218504 GRCh38: Chr7:100620881	TFR2		Hereditary hemochromatosis	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 24180373.	NM_003227.4(TFR2):c.1071_1075del (p.Gln357fs) GRCh37: Chr7:100229460-100229464 GRCh38: Chr7:100631837-100631841	TFR2	Q186fs, Q357fs	Hereditary hemochromatosis	Pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 24173184.	NM_003227.4(TFR2):c.1513G>A (p.Val505Met) GRCh37: Chr7:100225720 GRCh38: Chr7:100628097	TFR2	V334M, V505M	Hereditary hemochromatosis	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 24159075.	NM_003227.4(TFR2):c.1473+14C>A GRCh37: Chr7:100225833 GRCh38: Chr7:100628210	TFR2		Hereditary hemochromatosis	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 24153356.	NM_003227.4(TFR2):c.2242C>T (p.Leu748=) GRCh37: Chr7:100218644 GRCh38: Chr7:100621021	TFR2		Hereditary hemochromatosis	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 22024407.	NM_003227.4(TFR2):c.855C>G (p.Thr285=) GRCh37: Chr7:100229816 GRCh38: Chr7:100632193	TFR2		Hereditary hemochromatosis	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 22010148.	NM_003227.4(TFR2):c.287-18C>G GRCh37: Chr7:100238513 GRCh38: Chr7:100640890	TFR2		Hereditary hemochromatosis	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 21991759.	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 219908210.	NM_003227.4(TFR2):c.727-7T>C GRCh37: Chr7:100230753 GRCh38: Chr7:100633130	TFR2		Hereditary hemochromatosis	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 219900011.	NM_003227.4(TFR2):c.1086C>T (p.Asp362=) GRCh37: Chr7:100229449 GRCh38: Chr7:100631826	TFR2		Hereditary hemochromatosis	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 219671612.	NM_003227.4(TFR2):c.1305A>C (p.Ala435=) GRCh37: Chr7:100226961 GRCh38: Chr7:100629338	TFR2		Hereditary hemochromatosis	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 219628713.	NM_003227.4(TFR2):c.1192C>G (p.Arg398Gly) GRCh37: Chr7:100228590 GRCh38: Chr7:100630967	TFR2	R398G, R227G	Hereditary hemochromatosis	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 219511614.	NM_003227.4(TFR2):c.1474-1G>A GRCh37: Chr7:100225760 GRCh38: Chr7:100628137	TFR2		Hereditary hemochromatosis	Likely pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 219181215.	NM_003227.4(TFR2):c.1503C>G (p.Ala501=) GRCh37: Chr7:100225730 GRCh38: Chr7:100628107	TFR2		Hereditary hemochromatosis	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 218967016.	NM_003227.4(TFR2):c.1101G>C (p.Leu367=) GRCh37: Chr7:100229434 GRCh38: Chr7:100631811	TFR2		Hereditary hemochromatosis	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 218914917.	NM_003227.4(TFR2):c.2327T>C (p.Leu776Pro) GRCh37: Chr7:100218559 GRCh38: Chr7:100620936	TFR2	L605P, L776P	Hereditary hemochromatosis	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 218855418.	NM_003227.4(TFR2):c.1617C>A (p.Pro539=) GRCh37: Chr7:100225432 GRCh38: Chr7:100627809	TFR2		Hereditary hemochromatosis	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 218841919.	NM_003227.4(TFR2):c.1606-6C>T GRCh37: Chr7:100225449 GRCh38: Chr7:100627826	TFR2		Hereditary hemochromatosis	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 218696220.	NM_000410.4(HFE):c.759T>A (p.Pro253=) GRCh37: Chr6:26093055 GRCh38: Chr6:26092827	HFE		Hereditary hemochromatosis	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 218692121.	NM_003227.4(TFR2):c.2133G>A (p.Met711Ile) GRCh37: Chr7:100224389 GRCh38: Chr7:100626766	LOC113687175, TFR2	M711I, M540I	Hereditary hemochromatosis	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 218621222.	NM_003227.4(TFR2):c.2137-7T>C GRCh37: Chr7:100218756 GRCh38: Chr7:100621133	TFR2		Hereditary hemochromatosis	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 218530023.	NM_000410.4(HFE):c.780G>A (p.Gly260=) GRCh37: Chr6:26093076 GRCh38: Chr6:26092848	HFE		Hereditary hemochromatosis	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 218062924.	NM_003227.4(TFR2):c.1605+10C>T GRCh37: Chr7:100225520 GRCh38: Chr7:100627897	TFR2		Hereditary hemochromatosis	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 217746625.	NM_003227.4(TFR2):c.1768-4G>A GRCh37: Chr7:100225118 GRCh38: Chr7:100627495	TFR2		Hereditary hemochromatosis	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 217629426.	NM_003227.4(TFR2):c.570C>T (p.His190=) GRCh37: Chr7:100231083 GRCh38: Chr7:100633460	TFR2		Hereditary hemochromatosis	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 216863727.	NM_000410.4(HFE):c.24G>C (p.Ala8=) GRCh37: Chr6:26087692 GRCh38: Chr6:26087464	HFE, HFE-AS1		Hereditary hemochromatosis	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 216814928.	NM_003227.4(TFR2):c.458T>C (p.Leu153Pro) GRCh37: Chr7:100238324 GRCh38: Chr7:100640701	TFR2	L153P	Hereditary hemochromatosis	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 216772029.	NM_003227.4(TFR2):c.1996-8C>T GRCh37: Chr7:100224534 GRCh38: Chr7:100626911	LOC113687175, TFR2		Hereditary hemochromatosis	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 216670030.	NM_003227.4(TFR2):c.1251C>A (p.Ile417=) GRCh37: Chr7:100228531 GRCh38: Chr7:100630908	TFR2		Hereditary hemochromatosis	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 216458931.	NM_003227.4(TFR2):c.1682+8G>T GRCh37: Chr7:100225359 GRCh38: Chr7:100627736	TFR2		Hereditary hemochromatosis	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 216446632.	NM_003227.4(TFR2):c.2217C>T (p.His739=) GRCh37: Chr7:100218669 GRCh38: Chr7:100621046	TFR2		Hereditary hemochromatosis	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 216400833.	NM_003227.4(TFR2):c.1894C>T (p.Arg632Trp) GRCh37: Chr7:100224988 GRCh38: Chr7:100627365	TFR2	R461W, R632W	Hereditary hemochromatosis	Uncertain significance (Sep 30, 2022)	criteria provided, single submitter
Select item 216350534.	NM_003227.4(TFR2):c.774C>T (p.Asp258=) GRCh37: Chr7:100230699 GRCh38: Chr7:100633076	TFR2		Hereditary hemochromatosis	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 216349235.	NM_000410.4(HFE):c.893-8T>C GRCh37: Chr6:26093339 GRCh38: Chr6:26093111	HFE		Hereditary hemochromatosis	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 216290936.	NM_003227.4(TFR2):c.1752G>A (p.Glu584=) GRCh37: Chr7:100225215 GRCh38: Chr7:100627592	TFR2		Hereditary hemochromatosis	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 216265237.	NM_003227.4(TFR2):c.2178C>T (p.Asp726=) GRCh37: Chr7:100218708 GRCh38: Chr7:100621085	TFR2		Hereditary hemochromatosis	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 216197738.	NM_000410.4(HFE):c.340+12G>A GRCh37: Chr6:26091344 GRCh38: Chr6:26091116	HFE		Hereditary hemochromatosis	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 216050239.	NM_003227.4(TFR2):c.1890C>T (p.Leu630=) GRCh37: Chr7:100224992 GRCh38: Chr7:100627369	TFR2		Hereditary hemochromatosis	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 216013840.	NM_003227.4(TFR2):c.34-17C>T GRCh37: Chr7:100238868 GRCh38: Chr7:100641245	TFR2		Hereditary hemochromatosis	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 215799941.	NM_003227.4(TFR2):c.1915C>T (p.Leu639=) GRCh37: Chr7:100224967 GRCh38: Chr7:100627344	TFR2		Hereditary hemochromatosis	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 215700842.	NM_003227.4(TFR2):c.2136+20G>C GRCh37: Chr7:100224366 GRCh38: Chr7:100626743	LOC113687175, TFR2		Hereditary hemochromatosis	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 215663243.	NM_003227.4(TFR2):c.333C>T (p.Cys111=) GRCh37: Chr7:100238449 GRCh38: Chr7:100640826	TFR2		Hereditary hemochromatosis	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 215437244.	NM_000410.4(HFE):c.525G>A (p.Arg175=) GRCh37: Chr6:26091726 GRCh38: Chr6:26091498	HFE		Hereditary hemochromatosis	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 215239245.	NM_003227.4(TFR2):c.348G>A (p.Leu116=) GRCh37: Chr7:100238434 GRCh38: Chr7:100640811	TFR2		Hereditary hemochromatosis	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 215218946.	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 215182047.	NM_003227.4(TFR2):c.1286dup (p.Gly430fs) GRCh37: Chr7:100226979-100226980 GRCh38: Chr7:100629356-100629357	TFR2	G259fs, G430fs	Hereditary hemochromatosis	Pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 214843748.	NM_003227.4(TFR2):c.33G>A (p.Ala11=) GRCh37: Chr7:100239100 GRCh38: Chr7:100641477	TFR2		Hereditary hemochromatosis	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 214685349.	NM_003227.4(TFR2):c.1638C>A (p.Leu546=) GRCh37: Chr7:100225411 GRCh38: Chr7:100627788	TFR2		Hereditary hemochromatosis	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 214468250.	NM_003227.4(TFR2):c.99C>A (p.His33Gln) GRCh37: Chr7:100238786 GRCh38: Chr7:100641163	TFR2	H33Q	Hereditary hemochromatosis	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 214411951.	NM_021175.4(HAMP):c.61C>T (p.Leu21=) GRCh37: Chr19:35773541 GRCh38: Chr19:35282638	HAMP		Hereditary hemochromatosis	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 214309352.	NM_003227.4(TFR2):c.523_524del (p.Leu175fs) GRCh37: Chr7:100231129-100231130 GRCh38: Chr7:100633506-100633507	TFR2	L175fs, L4fs	Hereditary hemochromatosis	Pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 214162153.	NM_003227.4(TFR2):c.1074C>T (p.Pro358=) GRCh37: Chr7:100229461 GRCh38: Chr7:100631838	TFR2		Hereditary hemochromatosis	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 214084454.	NM_003227.4(TFR2):c.2274C>T (p.Thr758=) GRCh37: Chr7:100218612 GRCh38: Chr7:100620989	TFR2		Hereditary hemochromatosis	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 213924255.	NM_003227.4(TFR2):c.552C>T (p.Ser184=) GRCh37: Chr7:100231101 GRCh38: Chr7:100633478	TFR2		Hereditary hemochromatosis	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 213851356.	NM_000410.4(HFE):c.278G>T (p.Gly93Val) GRCh37: Chr6:26091270 GRCh38: Chr6:26091042	HFE	G93V, G70V	Hereditary hemochromatosis	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 213482657.	NM_003227.4(TFR2):c.1209T>C (p.Asn403=) GRCh37: Chr7:100228573 GRCh38: Chr7:100630950	TFR2		Hereditary hemochromatosis	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 213281658.	NM_003227.4(TFR2):c.1117G>C (p.Gly373Arg) GRCh37: Chr7:100228665 GRCh38: Chr7:100631042	TFR2	G373R, G202R	Hereditary hemochromatosis	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 212962559.	NM_003227.4(TFR2):c.1560G>A (p.Lys520=) GRCh37: Chr7:100225575 GRCh38: Chr7:100627952	TFR2		Hereditary hemochromatosis	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 212889860.	NM_000410.4(HFE):c.582G>A (p.Leu194=) GRCh37: Chr6:26091783 GRCh38: Chr6:26091555	HFE		Hereditary hemochromatosis	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 212881661.	NM_003227.4(TFR2):c.192del (p.Arg65fs) GRCh37: Chr7:100238693 GRCh38: Chr7:100641070	TFR2	R65fs	Hereditary hemochromatosis	Pathogenic (Apr 21, 2022)	criteria provided, single submitter
Select item 212831462.	NM_003227.4(TFR2):c.966+7C>G GRCh37: Chr7:100229698 GRCh38: Chr7:100632075	TFR2		Hereditary hemochromatosis	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 212687763.	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 212470464.	NM_003227.4(TFR2):c.681G>A (p.Glu227=) GRCh37: Chr7:100230897 GRCh38: Chr7:100633274	TFR2		Hereditary hemochromatosis	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 211747765.	NM_003227.4(TFR2):c.990del (p.Tyr331fs) GRCh37: Chr7:100229545 GRCh38: Chr7:100631922	TFR2	Y160fs, Y331fs	Hereditary hemochromatosis	Pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 211578866.	NM_003227.4(TFR2):c.1767+6A>T GRCh37: Chr7:100225194 GRCh38: Chr7:100627571	TFR2		Hereditary hemochromatosis	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 211070567.	NM_000410.4(HFE):c.1002T>C (p.Gly334=) GRCh37: Chr6:26093456 GRCh38: Chr6:26093228	HFE		Hereditary hemochromatosis	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 210930368.	NM_003227.4(TFR2):c.786G>A (p.Arg262=) GRCh37: Chr7:100230687 GRCh38: Chr7:100633064	TFR2		Hereditary hemochromatosis	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210693269.	NM_003227.4(TFR2):c.2281dup (p.Ala761fs) GRCh37: Chr7:100218604-100218605 GRCh38: Chr7:100620981-100620982	TFR2	A590fs, A761fs	Hereditary hemochromatosis	Pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 210512270.	NM_000410.4(HFE):c.201T>C (p.Arg67=) GRCh37: Chr6:26091193 GRCh38: Chr6:26090965	HFE, HFE-AS1		Hereditary hemochromatosis	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 210494771.	NM_003227.4(TFR2):c.1474-18C>T GRCh37: Chr7:100225777 GRCh38: Chr7:100628154	TFR2		Hereditary hemochromatosis	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 210467572.	NM_003227.4(TFR2):c.1391-5C>T GRCh37: Chr7:100225934 GRCh38: Chr7:100628311	TFR2		Hereditary hemochromatosis	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 210460173.	NM_003227.4(TFR2):c.1106+7G>C GRCh37: Chr7:100229422 GRCh38: Chr7:100631799	TFR2		Hereditary hemochromatosis	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 210009274.	NM_003227.4(TFR2):c.1350C>A (p.Leu450=) GRCh37: Chr7:100226916 GRCh38: Chr7:100629293	TFR2		Hereditary hemochromatosis	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 209420375.	NM_003227.4(TFR2):c.63C>A (p.Thr21=) GRCh37: Chr7:100238822 GRCh38: Chr7:100641199	TFR2		Hereditary hemochromatosis	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 209237976.	NM_003227.4(TFR2):c.1350C>T (p.Leu450=) GRCh37: Chr7:100226916 GRCh38: Chr7:100629293	TFR2		Hereditary hemochromatosis	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 208973177.	NM_003227.4(TFR2):c.846G>A (p.Gln282=) GRCh37: Chr7:100230627 GRCh38: Chr7:100633004	TFR2		Hereditary hemochromatosis	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 208945278.	NM_003227.4(TFR2):c.717C>A (p.Gly239=) GRCh37: Chr7:100230861 GRCh38: Chr7:100633238	TFR2		Hereditary hemochromatosis	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 208935179.	NM_003227.4(TFR2):c.727-5C>T GRCh37: Chr7:100230751 GRCh38: Chr7:100633128	TFR2		Hereditary hemochromatosis	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 208640880.	NM_003227.4(TFR2):c.1179del (p.Pro395fs) GRCh37: Chr7:100228603 GRCh38: Chr7:100630980	TFR2	P224fs, P395fs	Hereditary hemochromatosis	Pathogenic (Jan 22, 2022)	criteria provided, single submitter
Select item 208636281.	NM_003227.4(TFR2):c.2234T>G (p.Leu745Arg) GRCh37: Chr7:100218652 GRCh38: Chr7:100621029	TFR2	L574R, L745R	Hereditary hemochromatosis	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 208563382.	NM_003227.4(TFR2):c.1606-5C>T GRCh37: Chr7:100225448 GRCh38: Chr7:100627825	TFR2		Hereditary hemochromatosis	Likely benign (Jan 22, 2022)	criteria provided, single submitter
Select item 208474183.	NM_003227.4(TFR2):c.2127C>T (p.Arg709=) GRCh37: Chr7:100224395 GRCh38: Chr7:100626772	LOC113687175, TFR2		Hereditary hemochromatosis	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 208320684.	NM_000410.4(HFE):c.76+15T>G GRCh37: Chr6:26087759 GRCh38: Chr6:26087531	HFE, HFE-AS1		Hereditary hemochromatosis	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 207775785.	NM_003227.4(TFR2):c.817G>A (p.Val273Met) GRCh37: Chr7:100230656 GRCh38: Chr7:100633033	TFR2	V273M, V102M	Hereditary hemochromatosis	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 207067186.	NM_000410.4(HFE):c.23C>T (p.Ala8Val) GRCh37: Chr6:26087691 GRCh38: Chr6:26087463	HFE, HFE-AS1	A8V	Hereditary hemochromatosis	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 207024887.	NM_000410.4(HFE):c.727A>G (p.Lys243Glu) GRCh37: Chr6:26093023 GRCh38: Chr6:26092795	HFE	K151E, K220E, K240E, K63E, K141E, K155E, K229E, K137E, K243E	Hereditary hemochromatosis	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 206817188.	NM_003227.4(TFR2):c.572T>C (p.Val191Ala) GRCh37: Chr7:100231081 GRCh38: Chr7:100633458	TFR2	V191A, V20A	Hereditary hemochromatosis	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 206396189.	NM_003227.4(TFR2):c.1862C>A (p.Ala621Asp) GRCh37: Chr7:100225020 GRCh38: Chr7:100627397	TFR2	A450D, A621D	Hereditary hemochromatosis	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 206395890.	NM_003227.4(TFR2):c.2008A>C (p.Thr670Pro) GRCh37: Chr7:100224514 GRCh38: Chr7:100626891	LOC113687175, TFR2	T499P, T670P	Hereditary hemochromatosis	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 206333491.	NM_003227.4(TFR2):c.1965G>A (p.Gly655=) GRCh37: Chr7:100224917 GRCh38: Chr7:100627294	TFR2		Hereditary hemochromatosis	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 206231192.	NM_003227.4(TFR2):c.966+5G>A GRCh37: Chr7:100229700 GRCh38: Chr7:100632077	TFR2		Hereditary hemochromatosis	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 206097493.	NM_003227.4(TFR2):c.1538-16C>T GRCh37: Chr7:100225613 GRCh38: Chr7:100627990	TFR2		Hereditary hemochromatosis	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 205930794.	NM_003227.4(TFR2):c.1096C>T (p.Arg366Cys) GRCh37: Chr7:100229439 GRCh38: Chr7:100631816	TFR2	R366C, R195C	Hereditary hemochromatosis	Uncertain significance (Mar 7, 2022)	criteria provided, single submitter
Select item 205853095.	NM_003227.4(TFR2):c.89G>A (p.Arg30Gln) GRCh37: Chr7:100238796 GRCh38: Chr7:100641173	TFR2	R30Q	Hereditary hemochromatosis, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Dec 15, 2022)	criteria provided, conflicting interpretations
Select item 205606296.	NM_003227.4(TFR2):c.1359G>C (p.Leu453=) GRCh37: Chr7:100226907 GRCh38: Chr7:100629284	TFR2		Hereditary hemochromatosis	Likely benign (Nov 4, 2022)	criteria provided, single submitter
Select item 205539797.	NM_003227.4(TFR2):c.1473+19C>T GRCh37: Chr7:100225828 GRCh38: Chr7:100628205	TFR2		Hereditary hemochromatosis	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 205502098.	NM_003227.4(TFR2):c.771G>A (p.Gln257=) GRCh37: Chr7:100230702 GRCh38: Chr7:100633079	TFR2		Hereditary hemochromatosis	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 205474199.	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 2053766100.	NM_003227.4(TFR2):c.1914G>A (p.Leu638=) GRCh37: Chr7:100224968 GRCh38: Chr7:100627345	TFR2		Hereditary hemochromatosis	Likely benign (Aug 30, 2022)	criteria provided, single submitter

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