ClinVar for MedGen (Select 381211) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24224621.	NC_000019.9:g.(?_49468350)_(49481434_?)del GRCh37: Chr19:49468350-49481434	FTL, GYS1		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 22004952.	NM_000146.4(FTL):c.501C>T (p.Phe167=) GRCh37: Chr19:49469965 GRCh38: Chr19:48966708	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 21973383.	NM_000146.4(FTL):c.-151A>G GRCh37: Chr19:49468614 GRCh38: Chr19:48965357	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Likely pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 21837694.	NM_000146.4(FTL):c.417G>A (p.Val139=) GRCh37: Chr19:49469881 GRCh38: Chr19:48966624	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 21810285.	NM_000146.4(FTL):c.189C>A (p.Tyr63Ter) GRCh37: Chr19:49469113 GRCh38: Chr19:48965856	FTL	Y63*	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 21637206.	NM_000146.4(FTL):c.253C>T (p.Pro85Ser) GRCh37: Chr19:49469541 GRCh38: Chr19:48966284	FTL	P85S	Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 21567157.	NM_000146.4(FTL):c.375T>C (p.His125=) GRCh37: Chr19:49469663 GRCh38: Chr19:48966406	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 21564738.	NM_000146.4(FTL):c.249+6T>C GRCh37: Chr19:49469179 GRCh38: Chr19:48965922	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Jul 10, 2022)	criteria provided, single submitter
Select item 21538399.	NC_000019.10:g.48965303C>T GRCh37: Chr19:49468560 GRCh38: Chr19:48965303	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 213831610.	NM_000146.4(FTL):c.-153G>A GRCh37: Chr19:49468612 GRCh38: Chr19:48965355	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 210502511.	NM_000146.4(FTL):c.515_516del (p.Leu172fs) GRCh37: Chr19:49469976-49469977 GRCh38: Chr19:48966719-48966720	FTL	L172fs	Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 209995012.	NM_000146.4(FTL):c.-126C>A GRCh37: Chr19:49468639 GRCh38: Chr19:48965382	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 206195513.	NM_000146.4(FTL):c.71A>T (p.Tyr24Phe) GRCh37: Chr19:49468835 GRCh38: Chr19:48965578	FTL, LOC130064892	Y24F	Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 205079414.	NM_000146.4(FTL):c.-143G>A GRCh37: Chr19:49468622 GRCh38: Chr19:48965365	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 204885415.	NM_000146.4(FTL):c.288C>T (p.Ala96=) GRCh37: Chr19:49469576 GRCh38: Chr19:48966319	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 204151216.	NM_000146.4(FTL):c.460_461delinsCCA (p.Arg154fs) GRCh37: Chr19:49469924-49469925 GRCh38: Chr19:48966667-48966668	FTL	R154fs	Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 204103217.	NM_000146.4(FTL):c.-9C>T GRCh37: Chr19:49468756 GRCh38: Chr19:48965499	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 204049118.	NM_000146.4(FTL):c.285C>T (p.Asp95=) GRCh37: Chr19:49469573 GRCh38: Chr19:48966316	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 203695319.	NC_000019.10:g.48965263G>C GRCh37: Chr19:49468520 GRCh38: Chr19:48965263	FTL, LOC130064891		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 196253920.	NM_000146.4(FTL):c.-111C>T GRCh37: Chr19:49468654 GRCh38: Chr19:48965397	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 195603221.	NM_000146.4(FTL):c.375+15C>A GRCh37: Chr19:49469678 GRCh38: Chr19:48966421	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 193018122.	NM_000146.4(FTL):c.-56G>T GRCh37: Chr19:49468709 GRCh38: Chr19:48965452	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 190775623.	NM_000146.4(FTL):c.463C>T (p.Leu155=) GRCh37: Chr19:49469927 GRCh38: Chr19:48966670	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 190098924.	NM_000146.4(FTL):c.271G>T (p.Gly91Cys) GRCh37: Chr19:49469559 GRCh38: Chr19:48966302	FTL	G91C	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Oct 6, 2022)	criteria provided, single submitter
Select item 188125625.	NM_000146.4(FTL):c.-24T>C GRCh37: Chr19:49468741 GRCh38: Chr19:48965484	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 169838826.	NM_000146.4(FTL):c.474G>A (p.Pro158=) GRCh37: Chr19:49469938 GRCh38: Chr19:48966681	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 169838727.	NM_000146.4(FTL):c.460dup (p.Arg154fs) GRCh37: Chr19:49469923-49469924 GRCh38: Chr19:48966666-48966667	FTL	R154fs	Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Pathogenic (Sep 9, 2022)	criteria provided, single submitter
Select item 169838628.	NM_000146.4(FTL):c.442dup (p.His148fs) GRCh37: Chr19:49469904-49469905 GRCh38: Chr19:48966647-48966648	FTL	H148fs	Neuroferritinopathy	not provided	no assertion provided
Select item 169838529.	NM_000146.4(FTL):c.439_442dup (p.His148fs) GRCh37: Chr19:49469902-49469903 GRCh38: Chr19:48966645-48966646	FTL	H148fs	Neuroferritinopathy	not provided	no assertion provided
Select item 168669430.	NM_000146.4(FTL):c.-150C>A GRCh37: Chr19:49468615 GRCh38: Chr19:48965358	FTL		not provided, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Pathogenic/Likely pathogenic (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168475331.	NM_000146.4(FTL):c.311A>G (p.Glu104Gly) GRCh37: Chr19:49469599 GRCh38: Chr19:48966342	FTL	E104G	not specified, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167357532.	NM_000146.4(FTL):c.199C>T (p.Leu67=) GRCh37: Chr19:49469123 GRCh38: Chr19:48965866	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Likely benign (Sep 7, 2021)	criteria provided, single submitter
Select item 166141233.	NM_000146.4(FTL):c.249+9T>G GRCh37: Chr19:49469182 GRCh38: Chr19:48965925	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 162233634.	NM_000146.4(FTL):c.319C>T (p.Leu107=) GRCh37: Chr19:49469607 GRCh38: Chr19:48966350	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 161738935.	NC_000019.10:g.48965306del GRCh37: Chr19:49468560 GRCh38: Chr19:48965303	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 161198236.	NM_000146.4(FTL):c.102+14A>G GRCh37: Chr19:49468880 GRCh38: Chr19:48965623	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Likely benign (Oct 20, 2021)	criteria provided, single submitter
Select item 159525737.	NM_000146.4(FTL):c.-121C>T GRCh37: Chr19:49468644 GRCh38: Chr19:48965387	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Benign (Jul 30, 2022)	criteria provided, single submitter
Select item 155456138.	NM_000146.4(FTL):c.42G>A (p.Glu14=) GRCh37: Chr19:49468806 GRCh38: Chr19:48965549	FTL, LOC130064892		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Likely benign (Apr 27, 2021)	criteria provided, single submitter
Select item 152021039.	NM_000146.4(FTL):c.-193C>G GRCh37: Chr19:49468572 GRCh38: Chr19:48965315	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 152003640.	NM_000146.4(FTL):c.139G>C (p.Gly47Arg) GRCh37: Chr19:49469063 GRCh38: Chr19:48965806	FTL	G47R	Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 151311841.	NM_000146.4(FTL):c.263A>G (p.Asp88Gly) GRCh37: Chr19:49469551 GRCh38: Chr19:48966294	FTL	D88G	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 151241242.	NM_000146.4(FTL):c.379T>C (p.Cys127Arg) GRCh37: Chr19:49469843 GRCh38: Chr19:48966586	FTL	C127R	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 150990943.	NM_000146.4(FTL):c.113T>C (p.Phe38Ser) GRCh37: Chr19:49469037 GRCh38: Chr19:48965780	FTL	F38S	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Nov 22, 2021)	criteria provided, single submitter
Select item 150180344.	NM_000146.4(FTL):c.-189G>T GRCh37: Chr19:49468576 GRCh38: Chr19:48965319	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Oct 2, 2021)	criteria provided, single submitter
Select item 150085445.	NM_000146.4(FTL):c.375+5G>A GRCh37: Chr19:49469668 GRCh38: Chr19:48966411	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 149222646.	NM_000146.4(FTL):c.218G>T (p.Arg73Leu) GRCh37: Chr19:49469142 GRCh38: Chr19:48965885	FTL	R73L	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 148254547.	NM_000146.4(FTL):c.-196G>C GRCh37: Chr19:49468569 GRCh38: Chr19:48965312	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 146420248.	NC_000019.10:g.48965263G>A GRCh37: Chr19:49468520 GRCh38: Chr19:48965263	FTL, LOC130064891		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 146336649.	NM_000146.4(FTL):c.124G>A (p.Asp42Asn) GRCh37: Chr19:49469048 GRCh38: Chr19:48965791	FTL	D42N	Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 143690150.	NM_000146.4(FTL):c.492G>T (p.Glu164Asp) GRCh37: Chr19:49469956 GRCh38: Chr19:48966699	FTL	E164D	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 142048751.	NC_000019.10:g.48965277C>T GRCh37: Chr19:49468534 GRCh38: Chr19:48965277	FTL, LOC130064891		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 141634552.	NM_000146.4(FTL):c.-170T>C GRCh37: Chr19:49468595 GRCh38: Chr19:48965338	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 141564753.	NM_000146.4(FTL):c.-177C>T GRCh37: Chr19:49468588 GRCh38: Chr19:48965331	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 141202554.	NM_000146.4(FTL):c.-134A>T GRCh37: Chr19:49468631 GRCh38: Chr19:48965374	FTL		FTL-related condition, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Apr 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 140648155.	NM_000146.4(FTL):c.-184C>G GRCh37: Chr19:49468581 GRCh38: Chr19:48965324	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Mar 26, 2021)	criteria provided, single submitter
Select item 140470256.	NM_000146.4(FTL):c.375+4C>T GRCh37: Chr19:49469667 GRCh38: Chr19:48966410	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 139986857.	NM_000146.4(FTL):c.256G>C (p.Ala86Pro) GRCh37: Chr19:49469544 GRCh38: Chr19:48966287	FTL	A86P	Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 138452058.	NM_000146.4(FTL):c.-51dup GRCh37: Chr19:49468713-49468714 GRCh38: Chr19:48965456-48965457	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Oct 4, 2021)	criteria provided, single submitter
Select item 138227259.	NM_000146.4(FTL):c.247A>G (p.Lys83Glu) GRCh37: Chr19:49469171 GRCh38: Chr19:48965914	FTL	K83E	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 137674760.	NM_000146.4(FTL):c.523G>T (p.Asp175Tyr) GRCh37: Chr19:49469987 GRCh38: Chr19:48966730	FTL	D175Y	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 134859161.	NM_000146.4(FTL):c.17G>A (p.Arg6His) GRCh37: Chr19:49468781 GRCh38: Chr19:48965524	FTL	R6H	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 134784162.	NM_000146.4(FTL):c.-190C>T GRCh37: Chr19:49468575 GRCh38: Chr19:48965318	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 134614663.	NM_000146.4(FTL):c.-153G>T GRCh37: Chr19:49468612 GRCh38: Chr19:48965355	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Feb 22, 2021)	criteria provided, single submitter
Select item 134555064.	NM_000146.4(FTL):c.139G>T (p.Gly47Cys) GRCh37: Chr19:49469063 GRCh38: Chr19:48965806	FTL	G47C	Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 132026765.	NM_000146.4(FTL):c.485_489dup (p.Glu164fs) GRCh37: Chr19:49469940-49469941 GRCh38: Chr19:48966683-48966684	FTL	E164fs	Neuroferritinopathy	Pathogenic/Likely pathogenic (Jan 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106358166.	NM_000146.4(FTL):c.-139C>T GRCh37: Chr19:49468626 GRCh38: Chr19:48965369	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 105251267.	NM_000146.4(FTL):c.-166T>C GRCh37: Chr19:49468599 GRCh38: Chr19:48965342	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 104990568.	NM_000146.4(FTL):c.155T>G (p.Phe52Cys) GRCh37: Chr19:49469079 GRCh38: Chr19:48965822	FTL	F52C	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Apr 8, 2022)	criteria provided, conflicting interpretations
Select item 104085869.	NM_000146.4(FTL):c.178C>T (p.Arg60Cys) GRCh37: Chr19:49469102 GRCh38: Chr19:48965845	FTL	R60C	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 101788270.	NM_000146.4(FTL):c.473C>T (p.Pro158Leu) GRCh37: Chr19:49469937 GRCh38: Chr19:48966680	FTL	P158L	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 100971771.	NM_000146.4(FTL):c.-148G>C GRCh37: Chr19:49468617 GRCh38: Chr19:48965360	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 100155272.	NM_000146.4(FTL):c.261A>C (p.Glu87Asp) GRCh37: Chr19:49469549 GRCh38: Chr19:48966292	FTL	E87D	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 96391773.	NM_000146.4(FTL):c.-167C>T GRCh37: Chr19:49468598 GRCh38: Chr19:48965341	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Pathogenic (May 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96066974.	NM_000146.4(FTL):c.302T>C (p.Met101Thr) GRCh37: Chr19:49469590 GRCh38: Chr19:48966333	FTL	M101T	Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 94894075.	NM_000146.4(FTL):c.466G>A (p.Gly156Ser) GRCh37: Chr19:49469930 GRCh38: Chr19:48966673	FTL	G156S	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 94070676.	NM_000146.4(FTL):c.12G>C (p.Gln4His) GRCh37: Chr19:49468776 GRCh38: Chr19:48965519	FTL	Q4H	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 89448177.	NM_000146.4(FTL):c.103-14A>G GRCh37: Chr19:49469013 GRCh38: Chr19:48965756	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Benign (Mar 12, 2018)	criteria provided, single submitter
Select item 89448078.	NM_000146.4(FTL):c.103-14A>C GRCh37: Chr19:49469013 GRCh38: Chr19:48965756	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 89412579.	NM_000146.4(FTL):c.*76G>A GRCh37: Chr19:49470068 GRCh38: Chr19:48966811	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Jan 17, 2018)	criteria provided, single submitter
Select item 89409180.	NM_000146.4(FTL):c.-86C>T GRCh37: Chr19:49468679 GRCh38: Chr19:48965422	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89409081.	NM_000146.4(FTL):c.-173C>G GRCh37: Chr19:49468592 GRCh38: Chr19:48965335	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 89408982.	NM_000146.4(FTL):c.-186C>A GRCh37: Chr19:49468579 GRCh38: Chr19:48965322	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89326483.	NM_000146.4(FTL):c.362G>A (p.Arg121His) GRCh37: Chr19:49469650 GRCh38: Chr19:48966393	FTL	R121H	Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89326384.	NM_000146.4(FTL):c.324C>T (p.Asn108=) GRCh37: Chr19:49469612 GRCh38: Chr19:48966355	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89326285.	NM_000146.4(FTL):c.234C>T (p.Leu78=) GRCh37: Chr19:49469158 GRCh38: Chr19:48965901	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89305786.	NM_000146.4(FTL):c.232C>T (p.Leu78Phe) GRCh37: Chr19:49469156 GRCh38: Chr19:48965899	FTL	L78F	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 89305687.	NM_000146.4(FTL):c.181G>A (p.Glu61Lys) GRCh37: Chr19:49469105 GRCh38: Chr19:48965848	FTL	E61K	Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 86011988.	NM_000146.4(FTL):c.249+3A>G GRCh37: Chr19:49469176 GRCh38: Chr19:48965919	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (May 5, 2019)	criteria provided, single submitter
Select item 80027289.	NM_000146.4(FTL):c.520C>T (p.His174Tyr) GRCh37: Chr19:49469984 GRCh38: Chr19:48966727	FTL	H174Y	Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, Inborn genetic diseases	Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69665090.	NM_000146.4(FTL):c.87C>T (p.Tyr29=) GRCh37: Chr19:49468851 GRCh38: Chr19:48965594	FTL, LOC130064892		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Likely benign (Nov 21, 2018)	criteria provided, single submitter
Select item 65958291.	NC_000019.10:g.(?_48966261)_(48966755_?)del GRCh37: Chr19:49469518-49470012 GRCh38: Chr19:48966261-48966755	FTL		Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 65568292.	NM_000146.4(FTL):c.376C>G (p.Leu126Val) GRCh37: Chr19:49469840 GRCh38: Chr19:48966583	FTL	L126V	Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 64752193.	NM_000146.4(FTL):c.-157G>A GRCh37: Chr19:49468608 GRCh38: Chr19:48965351	FTL		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 56586394.	NM_000146.4(FTL):c.502G>T (p.Glu168Ter) GRCh37: Chr19:49469966 GRCh38: Chr19:48966709	FTL	E168*	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 53423395.	NM_000146.4(FTL):c.194G>A (p.Arg65His) GRCh37: Chr19:49469118 GRCh38: Chr19:48965861	FTL	R65H	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 42996196.	NM_000146.4(FTL):c.207G>A (p.Met69Ile) GRCh37: Chr19:49469131 GRCh38: Chr19:48965874	FTL	M69I	Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, not provided	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42519497.	NM_000146.4(FTL):c.250-6A>G GRCh37: Chr19:49469532 GRCh38: Chr19:48966275	FTL		not provided, Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts	Benign/Likely benign (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36928598.	NM_002103.5(GYS1):c.1749C>A (p.Ile583=) GRCh37: Chr19:49473863 GRCh38: Chr19:48970606	FTL, GYS1		not specified, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, Glycogen storage disease due to muscle and heart glycogen synthase deficiency	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36928199.	NM_002103.5(GYS1):c.2043C>T (p.Ala681=) GRCh37: Chr19:49472716 GRCh38: Chr19:48969459	FTL, GYS1		not specified, Glycogen storage disease due to muscle and heart glycogen synthase deficiency, not provided, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 369277100.	NM_002103.5(GYS1):c.*421A>G GRCh37: Chr19:49472124 GRCh38: Chr19:48968867	FTL, GYS1		Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, Glycogen storage disease due to muscle and heart glycogen synthase deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter

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