Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000096.4(CP):c.3019-1G>A	SNV Germline	Chr3:149176413	Pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter	CA127255	rs_386134142	3 SubmittersRCV000019114
NM_000096.4(CP):c.2630G>A (p.Trp877Ter)	SNV Germline	Chr3:149179587	Pathogenic	Deficiency of ferroxidase Condition: not provided	Criteria Provided Single Submitter	CA127258	rs_121909579	3 SubmittersRCV000019120 RCV000760448
NM_000096.4(CP):c.1049C>A (p.Ala350Asp)	SNV Germline	Chr3:149206327	Likely pathogenic	Deficiency of ferroxidase Neurodegeneration with brain iron accumulation	Criteria Provided Single Submitter	CA344477	rs_386134127	2 SubmittersRCV000034876 RCV005237457
NM_000096.4(CP):c.229G>C (p.Asp77His)	SNV Germline	Chr3:149212616	Conflicting classifications of pathogenicity	Deficiency of ferroxidase not specified	Criteria Provided Conflicting Classifications	CA344479	rs_200683433	4 SubmittersRCV000034878 RCV003155049
NM_000096.4(CP):c.650T>C (p.Phe217Ser)	SNV Germline	Chr3:149209342	Pathogenic	Deficiency of ferroxidase	No Assertion Criteria Provided	CA344481	rs_386134125	2 SubmittersRCV000034879
NM_000096.4(CP):c.1874G>A (p.Gly625Glu)	SNV Unknown	Chr3:149186723	Pathogenic	Deficiency of ferroxidase	No Assertion Criteria Provided	CA344483	rs_386134129	1 SubmittersRCV000034880
NM_000096.4(CP):c.2675G>A (p.Gly892Glu)	SNV Unknown	Chr3:149178618	Pathogenic	Deficiency of ferroxidase	No Assertion Criteria Provided	CA344485	rs_386134131	1 SubmittersRCV000034881
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)	SNV Germline	Chr3:149178609	Conflicting classifications of pathogenicity	Deficiency of ferroxidase not specified Condition: not provided Hypoceruloplasminemia CP-related disorder	Criteria Provided Conflicting Classifications	CA152494	rs_139633388	18 SubmittersRCV000034882 RCV000334692 RCV000419016 RCV001836633 RCV004745171
NM_000096.4(CP):c.2953A>G (p.Met985Val)	SNV Unknown	Chr3:149177905	Pathogenic	Deficiency of ferroxidase	No Assertion Criteria Provided	CA344494	rs_386134132	1 SubmittersRCV000034888
NM_000096.4(CP):c.587C>G (p.Pro196Arg)	SNV Unknown	Chr3:149210187	Pathogenic	Deficiency of ferroxidase	No Assertion Criteria Provided	CA344568	rs_386134124	1 SubmittersRCV000034946
NM_000096.4(CP):c.493C>G (p.Gln165Glu)	SNV Unknown	Chr3:149210281	Pathogenic	Deficiency of ferroxidase	No Assertion Criteria Provided	CA344570	rs_386134122	1 SubmittersRCV000034947
NM_000096.4(CP):c.2131C>A (p.Gln711Lys)	SNV Unknown	Chr3:149185393	Pathogenic	Deficiency of ferroxidase	No Assertion Criteria Provided	CA344572	rs_386134130	1 SubmittersRCV000034948
NM_000096.4(CP):c.643C>T (p.Arg215Ter)	SNV Germline	Chr3:149209349	Pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter	CA344574	rs_386134155	2 SubmittersRCV000034949
NM_000096.4(CP):c.2701C>T (p.Arg901Ter)	SNV Germline	Chr3:149178592	Pathogenic	Deficiency of ferroxidase Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344578	rs_386134156	3 SubmittersRCV000034951 RCV002262599
NM_000096.4(CP):c.848G>C (p.Trp283Ser)	SNV Germline	Chr3:149207551	Likely pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter	CA344580	rs_386134126	2 SubmittersRCV000034953
NM_000096.4(CP):c.1209-2A>G	SNV Unknown	Chr3:149202243	Pathogenic	Deficiency of ferroxidase	No Assertion Criteria Provided	CA344587	rs_386134137	1 SubmittersRCV000034957
NM_000096.4(CP):c.146+1G>A	SNV Germline	Chr3:149221646	Pathogenic	Deficiency of ferroxidase Condition: not provided	Criteria Provided Single Submitter	CA344593	rs_386134134	2 SubmittersRCV000034962 RCV005000989
NM_000096.4(CP):c.1865-1G>A	SNV Unknown	Chr3:149186733	Pathogenic	Deficiency of ferroxidase	No Assertion Criteria Provided	CA344596	rs_386134139	1 SubmittersRCV000034966
NM_000096.4(CP):c.2554+1G>T	SNV Unknown	Chr3:149182004	Pathogenic	Deficiency of ferroxidase	No Assertion Criteria Provided	CA344613	rs_386134140	1 SubmittersRCV000034979
NM_000096.4(CP):c.2879-1G>A	SNV Unknown	Chr3:149177980	Pathogenic	Deficiency of ferroxidase	No Assertion Criteria Provided	CA344616	rs_386134141	1 SubmittersRCV000034982
NM_000096.4(CP):c.395-1G>A	SNV Unknown	Chr3:149210380	Pathogenic	Deficiency of ferroxidase	No Assertion Criteria Provided	CA344639	rs_386134135	1 SubmittersRCV000034995
NM_000096.4(CP):c.607+1G>A	SNV Unknown	Chr3:149210166	Pathogenic	Deficiency of ferroxidase	No Assertion Criteria Provided	CA344649	rs_386134136	1 SubmittersRCV000035000
NM_000096.4(CP):c.2793A>G (p.Leu931=)	SNV Germline	Chr3:149178500	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of ferroxidase not specified	Criteria Provided Conflicting Classifications	CA231056	rs_34987997	8 SubmittersRCV000116820 RCV000615583 RCV006445505
NM_000096.4(CP):c.322C>T (p.His108Tyr)	SNV Germline	Chr3:149212523	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of ferroxidase Inborn genetic diseases CP-related disorder	Criteria Provided Conflicting Classifications	CA231058	rs_34386552	5 SubmittersRCV000116823 RCV001087501 RCV004975277 RCV003925135
NM_000096.4(CP):c.656T>A (p.Val219Glu)	SNV Germline	Chr3:149209336	Likely pathogenic	Condition: not provided Neurodegeneration with brain iron accumulation Deficiency of ferroxidase	Criteria Provided Multiple Submitters No Conflicts	CA231060	rs_587780321	4 SubmittersRCV000116824 RCV004586553 RCV005031613
NM_000096.4(CP):c.2571C>T (p.Tyr857=)	SNV Germline	Chr3:149179646	Conflicting classifications of pathogenicity	not specified Condition: not provided Deficiency of ferroxidase	Criteria Provided Conflicting Classifications	CA207525	rs_151304828	9 SubmittersRCV000193795 RCV000725836 RCV001085939
NM_000096.4(CP):c.1430C>T (p.Pro477Leu)	SNV Germline	Chr3:149199783	Conflicting classifications of pathogenicity	not specified Deficiency of ferroxidase Condition: not provided CP-related disorder	Criteria Provided Conflicting Classifications	CA206118	rs_35331711	9 SubmittersRCV000192950 RCV000398768 RCV001355940 RCV003917744
NM_000096.4(CP):c.2697T>C (p.Val899=)	SNV Germline	Chr3:149178596	Conflicting classifications of pathogenicity	Deficiency of ferroxidase	Criteria Provided Conflicting Classifications	CA2660645	rs_17847022	2 SubmittersRCV000337784
NM_000096.4(CP):c.2662-14T>C	SNV Germline	Chr3:149178645	Conflicting classifications of pathogenicity	Deficiency of ferroxidase	Criteria Provided Conflicting Classifications	CA2660654	rs_189155564	2 SubmittersRCV000309651
NM_000096.4(CP):c.2310G>A (p.Lys770=)	SNV Germline	Chr3:149183581	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Condition: not provided CP-related disorder	Criteria Provided Conflicting Classifications	CA2660784	rs_553883583	6 SubmittersRCV000275460 RCV001200275 RCV003972453
NM_000096.4(CP):c.1217C>A (p.Ala406Glu)	SNV Germline	Chr3:149202233	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Condition: not provided Inborn genetic diseases Familial cancer of breast	Criteria Provided Conflicting Classifications	CA2661092	rs_147034302	8 SubmittersRCV000260851 RCV001770276 RCV002520097 RCV005897623
NM_000096.4(CP):c.1575A>G (p.Val525=)	SNV Germline	Chr3:149198505	Conflicting classifications of pathogenicity	Deficiency of ferroxidase	Criteria Provided Conflicting Classifications	CA2660959	rs_760634973	2 SubmittersRCV000288978
NM_000096.4(CP):c.938C>T (p.Thr313Ile)	SNV Germline	Chr3:149207461	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Inborn genetic diseases Condition: not provided CP-related disorder	Criteria Provided Conflicting Classifications	CA2661194	rs_144401501	8 SubmittersRCV000326860 RCV002520098 RCV003480611 RCV004745352
NM_000096.4(CP):c.788A>G (p.Asn263Ser)	SNV Germline	Chr3:149207611	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Condition: not provided CP-related disorder	Criteria Provided Conflicting Classifications	CA2661223	rs_150303869	8 SubmittersRCV000351379 RCV001579863 RCV004725180
NM_000096.4(CP):c.93G>A (p.Thr31=)	SNV Germline	Chr3:149221700	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Condition: not provided	Criteria Provided Conflicting Classifications	CA2661406	rs_201521886	4 SubmittersRCV000359730 RCV001799658
NM_000096.4(CP):c.2565C>T (p.Leu855=)	SNV Germline	Chr3:149179652	Conflicting classifications of pathogenicity	Deficiency of ferroxidase CP-related disorder	Criteria Provided Conflicting Classifications	CA2660684	rs_781672409	3 SubmittersRCV000408055 RCV004745350
NM_000096.4(CP):c.2611G>A (p.Asp871Asn)	SNV Germline	Chr3:149179606	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Condition: not provided CP-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2660675	rs_529607771	5 SubmittersRCV000364282 RCV000514945 RCV003912452 RCV005532631
NM_000096.4(CP):c.1380C>T (p.Thr460=)	SNV Germline	Chr3:149199833	Conflicting classifications of pathogenicity	Deficiency of ferroxidase	Criteria Provided Conflicting Classifications	CA2661036	rs_149790356	2 SubmittersRCV000313748
NM_000096.4(CP):c.1104G>C (p.Gly368=)	SNV Germline	Chr3:149206272	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Condition: not provided CP-related disorder	Criteria Provided Conflicting Classifications	CA2661139	rs_142503847	6 SubmittersRCV000266714 RCV001729555 RCV003910349
NM_000096.4(CP):c.944A>G (p.Asn315Ser)	SNV Germline	Chr3:149207455	Conflicting classifications of pathogenicity	Deficiency of ferroxidase not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2661191	rs_370682704	4 SubmittersRCV000271781 RCV001821042 RCV006277807
NM_000096.4(CP):c.1948G>A (p.Gly650Arg)	SNV Germline	Chr3:149186649	Pathogenic/Likely pathogenic	Condition: not provided Deficiency of ferroxidase Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA2660874	rs_776936158	5 SubmittersRCV000425954 RCV000504529 RCV005055965
NM_000096.4(CP):c.1679G>T (p.Cys560Phe)	SNV Germline	Chr3:149198401	Conflicting classifications of pathogenicity	Deficiency of ferroxidase not specified	Criteria Provided Conflicting Classifications	CA16621520	rs_1064797073	2 SubmittersRCV000487430 RCV004689759
NM_000096.4(CP):c.2879-1G>T	SNV Germline	Chr3:149177980	Likely pathogenic	Deficiency of ferroxidase	Criteria Provided Multiple Submitters No Conflicts	CA85528141	rs_386134141	2 SubmittersRCV000496109
NM_000096.4(CP):c.2756T>C (p.Leu919Pro)	SNV Germline	Chr3:149178537	Pathogenic/Likely pathogenic	Deficiency of ferroxidase Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA354929700	rs_1135401784	3 SubmittersRCV000496150 RCV003226310
NM_000096.4(CP):c.1208+1G>A	SNV Germline	Chr3:149206167	Pathogenic	Deficiency of ferroxidase Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA354912612	rs_1553762556	3 SubmittersRCV000584747 RCV003311852
NM_000096.4(CP):c.1012T>A (p.Cys338Ser)	SNV Germline	Chr3:149207387	Pathogenic	Deficiency of ferroxidase	No Assertion Criteria Provided	CA2661175	rs_769313989	1 SubmittersRCV000584748
NM_000096.4(CP):c.716A>T (p.Tyr239Phe)	SNV Germline	Chr3:149209276	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of ferroxidase Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2661256	rs_145481253	3 SubmittersRCV000592806 RCV001860175 RCV004975696
NM_000096.4(CP):c.583G>A (p.Gly195Arg)	SNV Germline	Chr3:149210191	Likely pathogenic	Inborn genetic diseases Deficiency of ferroxidase Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA2661289	rs_750451693	5 SubmittersRCV000624072 RCV000809524 RCV001584450 RCV005431812
NM_000096.4(CP):c.929G>A (p.Arg310His)	SNV Germline	Chr3:149207470	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of ferroxidase CP-related disorder	Criteria Provided Conflicting Classifications	CA2661198	rs_202217551	5 SubmittersRCV000658110 RCV001230054 RCV003938008
NM_000096.4(CP):c.2253G>A (p.Trp751Ter)	SNV Germline	Chr3:149185271	Pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter	CA354931857	rs_1559940237	1 SubmittersRCV000697053
NM_000096.4(CP):c.2498C>G (p.Ser833Ter)	SNV Germline	Chr3:149182061	Pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter	CA2660748	rs_369900671	1 SubmittersRCV000799580
NM_000096.4(CP):c.3006C>T (p.Ser1002=)	SNV Germline	Chr3:149177852	Conflicting classifications of pathogenicity	Deficiency of ferroxidase CP-related disorder	Criteria Provided Conflicting Classifications	CA2660583	rs_199877380	3 SubmittersRCV000945759 RCV003942986
NM_000096.4(CP):c.457G>A (p.Glu153Lys)	SNV Germline	Chr3:149210317	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Condition: not provided	Criteria Provided Conflicting Classifications	CA2661310	rs_138646392	3 SubmittersRCV000983871 RCV005628865
NM_000096.4(CP):c.1131C>T (p.Ala377=)	SNV Germline	Chr3:149206245	Conflicting classifications of pathogenicity	Deficiency of ferroxidase CP-related disorder	Criteria Provided Conflicting Classifications	CA2661134	rs_150733154	3 SubmittersRCV001146478 RCV003928746
NM_000096.4(CP):c.2554+8C>T	SNV Germline	Chr3:149181997	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Condition: not provided	Criteria Provided Conflicting Classifications	CA2660729	rs_749646388	4 SubmittersRCV001144440 RCV001579627
NM_000096.4(CP):c.782-3C>T	SNV Germline	Chr3:149207620	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Gastric cancer Colorectal cancer Cervical cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA2661226	rs_375191868	5 SubmittersRCV001149252 RCV005913905 RCV005913904 RCV005913903 RCV006446047
NM_000096.4(CP):c.2670C>G (p.Tyr890Ter)	SNV Germline	Chr3:149178623	Pathogenic/Likely pathogenic	Deficiency of ferroxidase Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA85528848	rs_1043139127	6 SubmittersRCV001224634 RCV004570545
NM_000096.4(CP):c.863T>C (p.Met288Thr)	SNV Germline	Chr3:149207536	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Condition: not provided	Criteria Provided Conflicting Classifications	CA2661209	rs_747305045	2 SubmittersRCV001229642 RCV006252766
NM_000096.4(CP):c.2879-2A>G	SNV Germline	Chr3:149177981	Pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter	CA354929401	rs_1406530488	1 SubmittersRCV001780576
NM_000096.4(CP):c.623A>G (p.Glu208Gly)	SNV Germline	Chr3:149209369	Conflicting classifications of pathogenicity	not specified Deficiency of ferroxidase Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2661267	rs_200933607	3 SubmittersRCV001806736 RCV001869493 RCV002542364
NM_000096.4(CP):c.301A>G (p.Thr101Ala)	SNV Germline	Chr3:149212544	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2661349	rs_148041351	2 SubmittersRCV002011237 RCV002657694
NM_000096.4(CP):c.188T>C (p.Ile63Thr)	SNV Germline	Chr3:149212657	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2661367	rs_759185877	3 SubmittersRCV002025697 RCV002511125 RCV005419310
NM_000096.4(CP):c.1149G>A (p.Trp383Ter)	SNV Germline	Chr3:149206227	Pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter	CA354912850	rs_772867888	1 SubmittersRCV001994711
NM_000096.4(CP):c.2322C>A (p.Tyr774Ter)	SNV Germline	Chr3:149183569	Pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter	CA354931581	rs_2108230432	1 SubmittersRCV001914980
NM_000096.4(CP):c.514G>C (p.Gly172Arg)	SNV Germline	Chr3:149210260	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2661302	rs_768492670	3 SubmittersRCV001892403 RCV005225539 RCV006352536
NM_000096.4(CP):c.1487A>G (p.Asn496Ser)	SNV Germline	Chr3:149199726	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Condition: not provided	Criteria Provided Conflicting Classifications	CA2661003	rs_541708867	2 SubmittersRCV002103331 RCV006251109
NM_000096.4(CP):c.390T>A (p.His130Gln)	SNV Germline	Chr3:149212455	Conflicting classifications of pathogenicity	Deficiency of ferroxidase Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2661336	rs_563241895	2 SubmittersRCV003085345 RCV003269425
NM_000096.4(CP):c.1306C>T (p.Arg436Ter)	SNV Germline	Chr3:149202144	Pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter	CA2661073	rs_779026502	1 SubmittersRCV002664323
NM_000096.4(CP):c.1843C>T (p.Gln615Ter)	SNV Germline	Chr3:149188073	Pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter	CA354932784	rs_2472773829	1 SubmittersRCV002770194
NM_000096.4(CP):c.1036+15C>T	SNV Germline	Chr3:149207348	Conflicting classifications of pathogenicity	Deficiency of ferroxidase	Criteria Provided Conflicting Classifications	CA2580068919	rs_2472844885	2 SubmittersRCV003064085
NM_000096.4(CP):c.746A>C (p.Asp249Ala)	SNV Germline	Chr3:149209246	Conflicting classifications of pathogenicity	Deficiency of ferroxidase	Criteria Provided Conflicting Classifications	CA2661251	rs_151311306	2 SubmittersRCV003518550
NM_000096.4(CP):c.2149C>T (p.Gln717Ter)	SNV Germline	Chr3:149185375	Pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter	CA354932087	rs_2472762265	1 SubmittersRCV003632766
NM_000096.4(CP):c.1864+5G>A	SNV Germline	Chr3:149188047	Pathogenic	Deficiency of ferroxidase	No Assertion Criteria Provided	CA2660913	rs_768510247	1 SubmittersRCV003985033
NM_000096.4(CP):c.3G>T (p.Met1Ile)	SNV Germline	Chr3:149221790	Conflicting classifications of pathogenicity	Deficiency of ferroxidase not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV005038774 RCV004690782
NM_000096.4(CP):c.2285+2T>C	SNV Germline	Chr3:149185237	Likely pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter			1 SubmittersRCV004771790
NM_000096.4(CP):c.1100G>A (p.Arg367His)	SNV Germline	Chr3:149206276	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of ferroxidase	Criteria Provided Conflicting Classifications			2 SubmittersRCV004792153 RCV005105089
NM_000096.4(CP):c.2260G>T (p.Glu754Ter)	SNV Germline	Chr3:149185264	Likely pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter			1 SubmittersRCV005035041
NM_000096.4(CP):c.2242C>T (p.Gln748Ter)	SNV Germline	Chr3:149185282	Likely pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter			1 SubmittersRCV005035042
NM_000096.4(CP):c.1348+2T>C	SNV Germline	Chr3:149202100	Likely pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter			1 SubmittersRCV005035043
NM_000096.4(CP):c.267G>A (p.Trp89Ter)	SNV Germline	Chr3:149212578	Likely pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter			1 SubmittersRCV005035045
NM_000096.4(CP):c.2122G>A (p.Gly708Ser)	SNV Germline	Chr3:149185402	Pathogenic	Neurodegeneration with brain iron accumulation Deficiency of ferroxidase	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005087656 RCV006489351
NM_000096.4(CP):c.2670C>A (p.Tyr890Ter)	SNV Germline	Chr3:149178623	Pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter			1 SubmittersRCV005107357
NM_000096.4(CP):c.1492C>T (p.Gln498Ter)	SNV Germline	Chr3:149199721	Pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter			1 SubmittersRCV005148989
NM_000096.4(CP):c.631A>T (p.Lys211Ter)	SNV Germline	Chr3:149209361	Pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter			1 SubmittersRCV005179113
NM_000096.4(CP):c.628G>T (p.Glu210Ter)	SNV Germline	Chr3:149209364	Pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter			1 SubmittersRCV005411081
NM_000096.4(CP):c.2285+1G>T	SNV Germline	Chr3:149185238	Likely pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter			1 SubmittersRCV005636300
NM_000096.4(CP):c.997G>T (p.Glu333Ter)	SNV Germline	Chr3:149207402	Pathogenic	Deficiency of ferroxidase	Criteria Provided Single Submitter			1 SubmittersRCV006502134

NM_000096.4(CP):c.3019-1G>A

SNV
Germline

Chr3:149176413

Pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

CA127255

rs_386134142

3 SubmittersRCV000019114

NM_000096.4(CP):c.2630G>A (p.Trp877Ter)

SNV
Germline

Chr3:149179587

Pathogenic

Deficiency of ferroxidase
Condition: not provided

Criteria Provided
Single Submitter

CA127258

rs_121909579

3 SubmittersRCV000019120 RCV000760448

NM_000096.4(CP):c.1049C>A (p.Ala350Asp)

SNV
Germline

Chr3:149206327

Likely pathogenic

Deficiency of ferroxidase
Neurodegeneration with brain iron accumulation

Criteria Provided
Single Submitter

CA344477

rs_386134127

2 SubmittersRCV000034876 RCV005237457

NM_000096.4(CP):c.229G>C (p.Asp77His)

SNV
Germline

Chr3:149212616

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
not specified

Criteria Provided
Conflicting Classifications

CA344479

rs_200683433

4 SubmittersRCV000034878 RCV003155049

NM_000096.4(CP):c.650T>C (p.Phe217Ser)

SNV
Germline

Chr3:149209342

Pathogenic

Deficiency of ferroxidase

No Assertion Criteria Provided

CA344481

rs_386134125

2 SubmittersRCV000034879

NM_000096.4(CP):c.1874G>A (p.Gly625Glu)

SNV
Unknown

Chr3:149186723

Pathogenic

Deficiency of ferroxidase

No Assertion Criteria Provided

CA344483

rs_386134129

1 SubmittersRCV000034880

NM_000096.4(CP):c.2675G>A (p.Gly892Glu)

SNV
Unknown

Chr3:149178618

Pathogenic

Deficiency of ferroxidase

No Assertion Criteria Provided

CA344485

rs_386134131

1 SubmittersRCV000034881

NM_000096.4(CP):c.2684G>C (p.Gly895Ala)

SNV
Germline

Chr3:149178609

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
not specified
Condition: not provided
Hypoceruloplasminemia
CP-related disorder

Criteria Provided
Conflicting Classifications

CA152494

rs_139633388

18 SubmittersRCV000034882 RCV000334692 RCV000419016 RCV001836633 RCV004745171

NM_000096.4(CP):c.2953A>G (p.Met985Val)

SNV
Unknown

Chr3:149177905

Pathogenic

Deficiency of ferroxidase

No Assertion Criteria Provided

CA344494

rs_386134132

1 SubmittersRCV000034888

NM_000096.4(CP):c.587C>G (p.Pro196Arg)

SNV
Unknown

Chr3:149210187

Pathogenic

Deficiency of ferroxidase

No Assertion Criteria Provided

CA344568

rs_386134124

1 SubmittersRCV000034946

NM_000096.4(CP):c.493C>G (p.Gln165Glu)

SNV
Unknown

Chr3:149210281

Pathogenic

Deficiency of ferroxidase

No Assertion Criteria Provided

CA344570

rs_386134122

1 SubmittersRCV000034947

NM_000096.4(CP):c.2131C>A (p.Gln711Lys)

SNV
Unknown

Chr3:149185393

Pathogenic

Deficiency of ferroxidase

No Assertion Criteria Provided

CA344572

rs_386134130

1 SubmittersRCV000034948

NM_000096.4(CP):c.643C>T (p.Arg215Ter)

SNV
Germline

Chr3:149209349

Pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

CA344574

rs_386134155

2 SubmittersRCV000034949

NM_000096.4(CP):c.2701C>T (p.Arg901Ter)

SNV
Germline

Chr3:149178592

Pathogenic

Deficiency of ferroxidase
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344578

rs_386134156

3 SubmittersRCV000034951 RCV002262599

NM_000096.4(CP):c.848G>C (p.Trp283Ser)

SNV
Germline

Chr3:149207551

Likely pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

CA344580

rs_386134126

2 SubmittersRCV000034953

NM_000096.4(CP):c.1209-2A>G

SNV
Unknown

Chr3:149202243

Pathogenic

Deficiency of ferroxidase

No Assertion Criteria Provided

CA344587

rs_386134137

1 SubmittersRCV000034957

NM_000096.4(CP):c.146+1G>A

SNV
Germline

Chr3:149221646

Pathogenic

Deficiency of ferroxidase
Condition: not provided

Criteria Provided
Single Submitter

CA344593

rs_386134134

2 SubmittersRCV000034962 RCV005000989

NM_000096.4(CP):c.1865-1G>A

SNV
Unknown

Chr3:149186733

Pathogenic

Deficiency of ferroxidase

No Assertion Criteria Provided

CA344596

rs_386134139

1 SubmittersRCV000034966

NM_000096.4(CP):c.2554+1G>T

SNV
Unknown

Chr3:149182004

Pathogenic

Deficiency of ferroxidase

No Assertion Criteria Provided

CA344613

rs_386134140

1 SubmittersRCV000034979

NM_000096.4(CP):c.2879-1G>A

SNV
Unknown

Chr3:149177980

Pathogenic

Deficiency of ferroxidase

No Assertion Criteria Provided

CA344616

rs_386134141

1 SubmittersRCV000034982

NM_000096.4(CP):c.395-1G>A

SNV
Unknown

Chr3:149210380

Pathogenic

Deficiency of ferroxidase

No Assertion Criteria Provided

CA344639

rs_386134135

1 SubmittersRCV000034995

NM_000096.4(CP):c.607+1G>A

SNV
Unknown

Chr3:149210166

Pathogenic

Deficiency of ferroxidase

No Assertion Criteria Provided

CA344649

rs_386134136

1 SubmittersRCV000035000

NM_000096.4(CP):c.2793A>G (p.Leu931=)

SNV
Germline

Chr3:149178500

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of ferroxidase
not specified

Criteria Provided
Conflicting Classifications

CA231056

rs_34987997

8 SubmittersRCV000116820 RCV000615583 RCV006445505

NM_000096.4(CP):c.322C>T (p.His108Tyr)

SNV
Germline

Chr3:149212523

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of ferroxidase
Inborn genetic diseases
CP-related disorder

Criteria Provided
Conflicting Classifications

CA231058

rs_34386552

5 SubmittersRCV000116823 RCV001087501 RCV004975277 RCV003925135

NM_000096.4(CP):c.656T>A (p.Val219Glu)

SNV
Germline

Chr3:149209336

Likely pathogenic

Condition: not provided
Neurodegeneration with brain iron accumulation
Deficiency of ferroxidase

Criteria Provided
Multiple Submitters
No Conflicts

CA231060

rs_587780321

4 SubmittersRCV000116824 RCV004586553 RCV005031613

NM_000096.4(CP):c.2571C>T (p.Tyr857=)

SNV
Germline

Chr3:149179646

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Deficiency of ferroxidase

Criteria Provided
Conflicting Classifications

CA207525

rs_151304828

9 SubmittersRCV000193795 RCV000725836 RCV001085939

NM_000096.4(CP):c.1430C>T (p.Pro477Leu)

SNV
Germline

Chr3:149199783

Conflicting classifications of pathogenicity

not specified
Deficiency of ferroxidase
Condition: not provided
CP-related disorder

Criteria Provided
Conflicting Classifications

CA206118

rs_35331711

9 SubmittersRCV000192950 RCV000398768 RCV001355940 RCV003917744

NM_000096.4(CP):c.2697T>C (p.Val899=)

SNV
Germline

Chr3:149178596

Conflicting classifications of pathogenicity

Deficiency of ferroxidase

Criteria Provided
Conflicting Classifications

CA2660645

rs_17847022

2 SubmittersRCV000337784

NM_000096.4(CP):c.2662-14T>C

SNV
Germline

Chr3:149178645

Conflicting classifications of pathogenicity

Deficiency of ferroxidase

Criteria Provided
Conflicting Classifications

CA2660654

rs_189155564

2 SubmittersRCV000309651

NM_000096.4(CP):c.2310G>A (p.Lys770=)

SNV
Germline

Chr3:149183581

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Condition: not provided
CP-related disorder

Criteria Provided
Conflicting Classifications

CA2660784

rs_553883583

6 SubmittersRCV000275460 RCV001200275 RCV003972453

NM_000096.4(CP):c.1217C>A (p.Ala406Glu)

SNV
Germline

Chr3:149202233

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Condition: not provided
Inborn genetic diseases
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2661092

rs_147034302

8 SubmittersRCV000260851 RCV001770276 RCV002520097 RCV005897623

NM_000096.4(CP):c.1575A>G (p.Val525=)

SNV
Germline

Chr3:149198505

Conflicting classifications of pathogenicity

Deficiency of ferroxidase

Criteria Provided
Conflicting Classifications

CA2660959

rs_760634973

2 SubmittersRCV000288978

NM_000096.4(CP):c.938C>T (p.Thr313Ile)

SNV
Germline

Chr3:149207461

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Inborn genetic diseases
Condition: not provided
CP-related disorder

Criteria Provided
Conflicting Classifications

CA2661194

rs_144401501

8 SubmittersRCV000326860 RCV002520098 RCV003480611 RCV004745352

NM_000096.4(CP):c.788A>G (p.Asn263Ser)

SNV
Germline

Chr3:149207611

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Condition: not provided
CP-related disorder

Criteria Provided
Conflicting Classifications

CA2661223

rs_150303869

8 SubmittersRCV000351379 RCV001579863 RCV004725180

NM_000096.4(CP):c.93G>A (p.Thr31=)

SNV
Germline

Chr3:149221700

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2661406

rs_201521886

4 SubmittersRCV000359730 RCV001799658

NM_000096.4(CP):c.2565C>T (p.Leu855=)

SNV
Germline

Chr3:149179652

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
CP-related disorder

Criteria Provided
Conflicting Classifications

CA2660684

rs_781672409

3 SubmittersRCV000408055 RCV004745350

NM_000096.4(CP):c.2611G>A (p.Asp871Asn)

SNV
Germline

Chr3:149179606

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Condition: not provided
CP-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2660675

rs_529607771

5 SubmittersRCV000364282 RCV000514945 RCV003912452 RCV005532631

NM_000096.4(CP):c.1380C>T (p.Thr460=)

SNV
Germline

Chr3:149199833

Conflicting classifications of pathogenicity

Deficiency of ferroxidase

Criteria Provided
Conflicting Classifications

CA2661036

rs_149790356

2 SubmittersRCV000313748

NM_000096.4(CP):c.1104G>C (p.Gly368=)

SNV
Germline

Chr3:149206272

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Condition: not provided
CP-related disorder

Criteria Provided
Conflicting Classifications

CA2661139

rs_142503847

6 SubmittersRCV000266714 RCV001729555 RCV003910349

NM_000096.4(CP):c.944A>G (p.Asn315Ser)

SNV
Germline

Chr3:149207455

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2661191

rs_370682704

4 SubmittersRCV000271781 RCV001821042 RCV006277807

NM_000096.4(CP):c.1948G>A (p.Gly650Arg)

SNV
Germline

Chr3:149186649

Pathogenic/Likely pathogenic

Condition: not provided
Deficiency of ferroxidase
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA2660874

rs_776936158

5 SubmittersRCV000425954 RCV000504529 RCV005055965

NM_000096.4(CP):c.1679G>T (p.Cys560Phe)

SNV
Germline

Chr3:149198401

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
not specified

Criteria Provided
Conflicting Classifications

CA16621520

rs_1064797073

2 SubmittersRCV000487430 RCV004689759

NM_000096.4(CP):c.2879-1G>T

SNV
Germline

Chr3:149177980

Likely pathogenic

Deficiency of ferroxidase

Criteria Provided
Multiple Submitters
No Conflicts

CA85528141

rs_386134141

2 SubmittersRCV000496109

NM_000096.4(CP):c.2756T>C (p.Leu919Pro)

SNV
Germline

Chr3:149178537

Pathogenic/Likely pathogenic

Deficiency of ferroxidase
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA354929700

rs_1135401784

3 SubmittersRCV000496150 RCV003226310

NM_000096.4(CP):c.1208+1G>A

SNV
Germline

Chr3:149206167

Pathogenic

Deficiency of ferroxidase
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354912612

rs_1553762556

3 SubmittersRCV000584747 RCV003311852

NM_000096.4(CP):c.1012T>A (p.Cys338Ser)

SNV
Germline

Chr3:149207387

Pathogenic

Deficiency of ferroxidase

No Assertion Criteria Provided

CA2661175

rs_769313989

1 SubmittersRCV000584748

NM_000096.4(CP):c.716A>T (p.Tyr239Phe)

SNV
Germline

Chr3:149209276

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of ferroxidase
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2661256

rs_145481253

3 SubmittersRCV000592806 RCV001860175 RCV004975696

NM_000096.4(CP):c.583G>A (p.Gly195Arg)

SNV
Germline

Chr3:149210191

Likely pathogenic

Inborn genetic diseases
Deficiency of ferroxidase
Condition: not provided
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA2661289

rs_750451693

5 SubmittersRCV000624072 RCV000809524 RCV001584450 RCV005431812

NM_000096.4(CP):c.929G>A (p.Arg310His)

SNV
Germline

Chr3:149207470

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of ferroxidase
CP-related disorder

Criteria Provided
Conflicting Classifications

CA2661198

rs_202217551

5 SubmittersRCV000658110 RCV001230054 RCV003938008

NM_000096.4(CP):c.2253G>A (p.Trp751Ter)

SNV
Germline

Chr3:149185271

Pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

CA354931857

rs_1559940237

1 SubmittersRCV000697053

NM_000096.4(CP):c.2498C>G (p.Ser833Ter)

SNV
Germline

Chr3:149182061

Pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

CA2660748

rs_369900671

1 SubmittersRCV000799580

NM_000096.4(CP):c.3006C>T (p.Ser1002=)

SNV
Germline

Chr3:149177852

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
CP-related disorder

Criteria Provided
Conflicting Classifications

CA2660583

rs_199877380

3 SubmittersRCV000945759 RCV003942986

NM_000096.4(CP):c.457G>A (p.Glu153Lys)

SNV
Germline

Chr3:149210317

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2661310

rs_138646392

3 SubmittersRCV000983871 RCV005628865

NM_000096.4(CP):c.1131C>T (p.Ala377=)

SNV
Germline

Chr3:149206245

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
CP-related disorder

Criteria Provided
Conflicting Classifications

CA2661134

rs_150733154

3 SubmittersRCV001146478 RCV003928746

NM_000096.4(CP):c.2554+8C>T

SNV
Germline

Chr3:149181997

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2660729

rs_749646388

4 SubmittersRCV001144440 RCV001579627

NM_000096.4(CP):c.782-3C>T

SNV
Germline

Chr3:149207620

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Gastric cancer
Colorectal cancer
Cervical cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2661226

rs_375191868

5 SubmittersRCV001149252 RCV005913905 RCV005913904 RCV005913903 RCV006446047

NM_000096.4(CP):c.2670C>G (p.Tyr890Ter)

SNV
Germline

Chr3:149178623

Pathogenic/Likely pathogenic

Deficiency of ferroxidase
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA85528848

rs_1043139127

6 SubmittersRCV001224634 RCV004570545

NM_000096.4(CP):c.863T>C (p.Met288Thr)

SNV
Germline

Chr3:149207536

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2661209

rs_747305045

2 SubmittersRCV001229642 RCV006252766

NM_000096.4(CP):c.2879-2A>G

SNV
Germline

Chr3:149177981

Pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

CA354929401

rs_1406530488

1 SubmittersRCV001780576

NM_000096.4(CP):c.623A>G (p.Glu208Gly)

SNV
Germline

Chr3:149209369

Conflicting classifications of pathogenicity

not specified
Deficiency of ferroxidase
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2661267

rs_200933607

3 SubmittersRCV001806736 RCV001869493 RCV002542364

NM_000096.4(CP):c.301A>G (p.Thr101Ala)

SNV
Germline

Chr3:149212544

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2661349

rs_148041351

2 SubmittersRCV002011237 RCV002657694

NM_000096.4(CP):c.188T>C (p.Ile63Thr)

SNV
Germline

Chr3:149212657

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2661367

rs_759185877

3 SubmittersRCV002025697 RCV002511125 RCV005419310

NM_000096.4(CP):c.1149G>A (p.Trp383Ter)

SNV
Germline

Chr3:149206227

Pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

CA354912850

rs_772867888

1 SubmittersRCV001994711

NM_000096.4(CP):c.2322C>A (p.Tyr774Ter)

SNV
Germline

Chr3:149183569

Pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

CA354931581

rs_2108230432

1 SubmittersRCV001914980

NM_000096.4(CP):c.514G>C (p.Gly172Arg)

SNV
Germline

Chr3:149210260

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2661302

rs_768492670

3 SubmittersRCV001892403 RCV005225539 RCV006352536

NM_000096.4(CP):c.1487A>G (p.Asn496Ser)

SNV
Germline

Chr3:149199726

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2661003

rs_541708867

2 SubmittersRCV002103331 RCV006251109

NM_000096.4(CP):c.390T>A (p.His130Gln)

SNV
Germline

Chr3:149212455

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2661336

rs_563241895

2 SubmittersRCV003085345 RCV003269425

NM_000096.4(CP):c.1306C>T (p.Arg436Ter)

SNV
Germline

Chr3:149202144

Pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

CA2661073

rs_779026502

1 SubmittersRCV002664323

NM_000096.4(CP):c.1843C>T (p.Gln615Ter)

SNV
Germline

Chr3:149188073

Pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

CA354932784

rs_2472773829

1 SubmittersRCV002770194

NM_000096.4(CP):c.1036+15C>T

SNV
Germline

Chr3:149207348

Conflicting classifications of pathogenicity

Deficiency of ferroxidase

Criteria Provided
Conflicting Classifications

CA2580068919

rs_2472844885

2 SubmittersRCV003064085

NM_000096.4(CP):c.746A>C (p.Asp249Ala)

SNV
Germline

Chr3:149209246

Conflicting classifications of pathogenicity

Deficiency of ferroxidase

Criteria Provided
Conflicting Classifications

CA2661251

rs_151311306

2 SubmittersRCV003518550

NM_000096.4(CP):c.2149C>T (p.Gln717Ter)

SNV
Germline

Chr3:149185375

Pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

CA354932087

rs_2472762265

1 SubmittersRCV003632766

NM_000096.4(CP):c.1864+5G>A

SNV
Germline

Chr3:149188047

Pathogenic

Deficiency of ferroxidase

No Assertion Criteria Provided

CA2660913

rs_768510247

1 SubmittersRCV003985033

NM_000096.4(CP):c.3G>T (p.Met1Ile)

SNV
Germline

Chr3:149221790

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005038774 RCV004690782

NM_000096.4(CP):c.2285+2T>C

SNV
Germline

Chr3:149185237

Likely pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

1 SubmittersRCV004771790

NM_000096.4(CP):c.1100G>A (p.Arg367His)

SNV
Germline

Chr3:149206276

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of ferroxidase

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004792153 RCV005105089

NM_000096.4(CP):c.2260G>T (p.Glu754Ter)

SNV
Germline

Chr3:149185264

Likely pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

1 SubmittersRCV005035041

NM_000096.4(CP):c.2242C>T (p.Gln748Ter)

SNV
Germline

Chr3:149185282

Likely pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

1 SubmittersRCV005035042

NM_000096.4(CP):c.1348+2T>C

SNV
Germline

Chr3:149202100

Likely pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

1 SubmittersRCV005035043

NM_000096.4(CP):c.267G>A (p.Trp89Ter)

SNV
Germline

Chr3:149212578

Likely pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

1 SubmittersRCV005035045

NM_000096.4(CP):c.2122G>A (p.Gly708Ser)

SNV
Germline

Chr3:149185402

Pathogenic

Neurodegeneration with brain iron accumulation
Deficiency of ferroxidase

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005087656 RCV006489351

NM_000096.4(CP):c.2670C>A (p.Tyr890Ter)

SNV
Germline

Chr3:149178623

Pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

1 SubmittersRCV005107357

NM_000096.4(CP):c.1492C>T (p.Gln498Ter)

SNV
Germline

Chr3:149199721

Pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

1 SubmittersRCV005148989

NM_000096.4(CP):c.631A>T (p.Lys211Ter)

SNV
Germline

Chr3:149209361

Pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

1 SubmittersRCV005179113

NM_000096.4(CP):c.628G>T (p.Glu210Ter)

SNV
Germline

Chr3:149209364

Pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

1 SubmittersRCV005411081

NM_000096.4(CP):c.2285+1G>T

SNV
Germline

Chr3:149185238

Likely pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

1 SubmittersRCV005636300

NM_000096.4(CP):c.997G>T (p.Glu333Ter)

SNV
Germline

Chr3:149207402

Pathogenic

Deficiency of ferroxidase

Criteria Provided
Single Submitter

1 SubmittersRCV006502134