Total 94 pathogenic variants reported for Deficiency of ferroxidase 
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 SubmittersRCV000019120RCV000760448
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 SubmittersRCV000034878RCV003155049
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
Not provided		 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
Not provided		 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		 Criteria Provided
Conflicting Classifications
 CA152494 rs_139633388

15 SubmittersRCV000034882RCV000334692RCV000419016RCV001836633
NM_000096.4(CP):c.2953A>G (p.Met985Val) SNV
Not provided		 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
Not provided		 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
Not provided		 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
Not provided		 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 SubmittersRCV000034951RCV002262599
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
Not provided		 Chr3:149202243 Pathogenic Deficiency of ferroxidase No Assertion Criteria Provided
 CA344587 rs_386134137

1 SubmittersRCV000034957
NM_000096.4(CP):c.146+1G>A SNV
Not provided		 Chr3:149221646 Pathogenic Deficiency of ferroxidase No Assertion Criteria Provided
 CA344593 rs_386134134

1 SubmittersRCV000034962
NM_000096.4(CP):c.1865-1G>A SNV
Not provided		 Chr3:149186733 Pathogenic Deficiency of ferroxidase No Assertion Criteria Provided
 CA344596 rs_386134139

1 SubmittersRCV000034966
NM_000096.4(CP):c.2554+1G>T SNV
Not provided		 Chr3:149182004 Pathogenic Deficiency of ferroxidase No Assertion Criteria Provided
 CA344613 rs_386134140

1 SubmittersRCV000034979
NM_000096.4(CP):c.2879-1G>A SNV
Not provided		 Chr3:149177980 Pathogenic Deficiency of ferroxidase No Assertion Criteria Provided
 CA344616 rs_386134141

1 SubmittersRCV000034982
NM_000096.4(CP):c.395-1G>A SNV
Not provided		 Chr3:149210380 Pathogenic Deficiency of ferroxidase No Assertion Criteria Provided
 CA344639 rs_386134135

1 SubmittersRCV000034995
NM_000096.4(CP):c.607+1G>A SNV
Not provided		 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		 Criteria Provided
Conflicting Classifications
 CA231056 rs_34987997

7 SubmittersRCV000116820RCV000615583
NM_000096.4(CP):c.322C>T (p.His108Tyr) SNV
Germline		 Chr3:149212523 Conflicting classifications of pathogenicity Condition: not provided
Deficiency of ferroxidase
CP-related disorder		 Criteria Provided
Conflicting Classifications
 CA231058 rs_34386552

4 SubmittersRCV000116823RCV001087501RCV003925135
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

8 SubmittersRCV000193795RCV000725836RCV001085939
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

8 SubmittersRCV000192950RCV000398768RCV001355940RCV003917744
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 SubmittersRCV000275460RCV001200275RCV003972453
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		 Criteria Provided
Conflicting Classifications
 CA2661092 rs_147034302

5 SubmittersRCV000260851RCV001770276RCV002520097
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		 Criteria Provided
Conflicting Classifications
 CA2661194 rs_144401501

4 SubmittersRCV000326860RCV002520098RCV003480611
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 SubmittersRCV000359730RCV001799658
NM_000096.4(CP):c.2565C>T (p.Leu855=) SNV
Germline		 Chr3:149179652 Conflicting classifications of pathogenicity Deficiency of ferroxidase Criteria Provided
Conflicting Classifications
 CA2660684 rs_781672409

2 SubmittersRCV000408055
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		 Criteria Provided
Conflicting Classifications
 CA2660675 rs_529607771

4 SubmittersRCV000364282RCV000514945RCV003912452
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

5 SubmittersRCV000266714RCV001729555RCV003910349
NM_000096.4(CP):c.944A>G (p.Asn315Ser) SNV
Germline		 Chr3:149207455 Conflicting classifications of pathogenicity Deficiency of ferroxidase
not specified		 Criteria Provided
Conflicting Classifications
 CA2661191 rs_370682704

3 SubmittersRCV000271781RCV001821042
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) SNV
Germline		 Chr3:149186649 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of ferroxidase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2660874 rs_776936158

4 SubmittersRCV000425954RCV000504529
NM_000096.4(CP):c.1679G>T (p.Cys560Phe) SNV
Germline		 Chr3:149198401 Likely pathogenic Deficiency of ferroxidase Criteria Provided
Single Submitter
 CA16621520 rs_1064797073

1 SubmittersRCV000487430
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 SubmittersRCV000496150RCV003226310
NM_000096.4(CP):c.1208+1G>A SNV
Germline		 Chr3:149206167 Pathogenic Deficiency of ferroxidase
Condition: not provided		 Criteria Provided
Single Submitter
 CA354912612 rs_1553762556

2 SubmittersRCV000584747RCV003311852
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		 Criteria Provided
Conflicting Classifications
 CA2661256 rs_145481253

2 SubmittersRCV000592806RCV001860175
NM_000096.4(CP):c.583G>A (p.Gly195Arg) SNV
Germline		 Chr3:149210191 Conflicting classifications of pathogenicity Inborn genetic diseases
Deficiency of ferroxidase
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2661289 rs_750451693

4 SubmittersRCV000624072RCV000809524RCV001584450RCV003117432
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
 rs_202217551

5 SubmittersRCV000658110RCV001230054RCV003938008
NM_000096.4(CP):c.2253G>A (p.Trp751Ter) SNV
Germline		 Chr3:149185271 Pathogenic Deficiency of ferroxidase Criteria Provided
Single Submitter
 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
 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
 rs_199877380

3 SubmittersRCV000945759RCV003942986
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
 rs_150733154

3 SubmittersRCV001146478RCV003928746
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
 rs_749646388

4 SubmittersRCV001144440RCV001579627
NM_000096.4(CP):c.2670C>G (p.Tyr890Ter) SNV
Germline		 Chr3:149178623 Pathogenic Deficiency of ferroxidase
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1043139127

3 SubmittersRCV001224634RCV004570545
NM_000096.4(CP):c.2879-2A>G SNV
Germline		 Chr3:149177981 Pathogenic Deficiency of ferroxidase Criteria Provided
Single Submitter
 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
 rs_200933607

3 SubmittersRCV001806736RCV001869493RCV002542364
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
 rs_148041351

2 SubmittersRCV002011237RCV002657694
NM_000096.4(CP):c.188T>C (p.Ile63Thr) SNV
Germline		 Chr3:149212657 Conflicting classifications of pathogenicity Deficiency of ferroxidase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_759185877

2 SubmittersRCV002025697RCV002511125
NM_000096.4(CP):c.1149G>A (p.Trp383Ter) SNV
Germline		 Chr3:149206227 Pathogenic Deficiency of ferroxidase Criteria Provided
Single Submitter
 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
 rs_2108230432

1 SubmittersRCV001914980
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

2 SubmittersRCV003085345RCV003269425
NM_000096.4(CP):c.1306C>T (p.Arg436Ter) SNV
Germline		 Chr3:149202144 Pathogenic Deficiency of ferroxidase Criteria Provided
Single Submitter

1 SubmittersRCV002664323
NM_000096.4(CP):c.1843C>T (p.Gln615Ter) SNV
Germline		 Chr3:149188073 Pathogenic Deficiency of ferroxidase Criteria Provided
Single Submitter

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

2 SubmittersRCV003064085
NM_000096.4(CP):c.2149C>T (p.Gln717Ter) SNV
Germline		 Chr3:149185375 Pathogenic Deficiency of ferroxidase Criteria Provided
Single Submitter

1 SubmittersRCV003632766
NM_000096.4(CP):c.1864+5G>A SNV
Germline		 Chr3:149188047 Pathogenic Deficiency of ferroxidase No Assertion Criteria Provided
 rs_768510247

1 SubmittersRCV003985033