TF — 480 ClinVar variants
All ClinVar germline TF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
5 Pathogenic · 12 Likely pathogenic · 11 Conflicting · 20 Benign · 10 Benign/Likely benign · 316 Likely benign · 106 Uncertain significance
Full TF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
TF p.Gly277Asp
Pathogenic
No assertion criteria
Transferrin variant D1
-
TF p.Lys646Glu
Pathogenic
No assertion criteria
Transferrin variant Bv
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TF p.Ser40Asn
Conflicting
Single submitter
atransferrinemia
-
TF p.Ser55Arg
Conflicting
Single submitter
atransferrinemia
Predictors lean, ClinVar uncertain 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TF p.Ala318Ser Uncertain significance Multiple submitters
-
TF p.Ala72Val
Uncertain significance
Multiple submitters
atransferrinemia
-
TF p.Gln264Glu
Uncertain significance
Multiple submitters
atransferrinemia
- TF p.Gln559Leu Uncertain significance Multiple submitters
-
TF p.Thr112Ala
Uncertain significance
Multiple submitters
atransferrinemia
- TF p.Val270Asp Uncertain significance Multiple submitters
-
TF p.Val451Ala
Uncertain significance
Multiple submitters
atransferrinemia
- TF p.Ala170Thr Uncertain significance Single submitter
- TF p.Ala181Val Uncertain significance Single submitter
- TF p.Ala330Val Uncertain significance Single submitter
- TF p.Ala390Thr Uncertain significance Single submitter
- TF p.Ala418Gly Uncertain significance Single submitter
- TF p.Ala472Thr Uncertain significance Single submitter
-
TF p.Ala539Thr
Uncertain significance
Single submitter
atransferrinemia
- TF p.Ala92Val Uncertain significance Single submitter
- TF p.Arg162His Uncertain significance Single submitter
- TF p.Arg273Gln Uncertain significance Single submitter
- TF p.Arg42His Uncertain significance Single submitter
- TF p.Arg621Cys Uncertain significance Single submitter
- TF p.Arg621His Uncertain significance Single submitter
- TF p.Arg682Thr Uncertain significance Single submitter
- TF p.Arg696Cys Uncertain significance Single submitter
- TF p.Asn129Lys Uncertain significance Single submitter
- TF p.Asn287Ser Uncertain significance Single submitter
- TF p.Asn523Tyr Uncertain significance Single submitter
- TF p.Asn528Ser Uncertain significance Single submitter
-
TF p.Asn94Ser
Uncertain significance
Single submitter
atransferrinemia
- TF p.Asp238Glu Uncertain significance Single submitter
- TF p.Asp356Asn Uncertain significance Single submitter
- TF p.Asp356Glu Uncertain significance Single submitter
- TF p.Asp435Asn Uncertain significance Single submitter
- TF p.Asp435Gly Uncertain significance Single submitter
-
TF p.Asp52Asn
Uncertain significance
Single submitter
atransferrinemia
- TF p.Asp652Gly Uncertain significance Single submitter
-
TF p.Cys38Tyr
Uncertain significance
Single submitter
atransferrinemia
- TF p.Cys517Tyr Uncertain significance Single submitter
- TF p.Glu337Lys Uncertain significance Single submitter
- TF p.Glu370Gly Uncertain significance Single submitter
- TF p.Glu370Lys Uncertain significance Single submitter
- TF p.Glu391Gln Uncertain significance Single submitter
- TF p.Glu526Lys Uncertain significance Single submitter
- TF p.Glu592Lys Uncertain significance Single submitter
- TF p.Gly474Val Uncertain significance Single submitter
-
TF p.Gly547Arg
Uncertain significance
Single submitter
atransferrinemia
- TF p.His625Asp Uncertain significance Single submitter
- TF p.His661Arg Uncertain significance Single submitter
-
TF p.Ile400Val
Uncertain significance
Single submitter
atransferrinemia
- TF p.Ile71Thr Uncertain significance Single submitter
- TF p.Leu262Trp Uncertain significance Single submitter
- TF p.Leu285Phe Uncertain significance Single submitter
- TF p.Leu3Phe Uncertain significance Single submitter
- TF p.Leu689Val Uncertain significance Single submitter
- TF p.Lys359Asn Uncertain significance Single submitter
- TF p.Lys571Glu Uncertain significance Single submitter
- TF p.Pro161Ser Uncertain significance Single submitter
- TF p.Pro307Leu Uncertain significance Single submitter
- TF p.Pro425Leu Uncertain significance Single submitter
- TF p.Pro441Thr Uncertain significance Single submitter
-
TF p.Pro602Gln
Uncertain significance
Single submitter
atransferrinemia
-
TF p.Ser227Leu
Uncertain significance
Single submitter
atransferrinemia
- TF p.Ser274Cys Uncertain significance Single submitter
- TF p.Ser381Arg Uncertain significance Single submitter
- TF p.Ser512Arg Uncertain significance Single submitter
- TF p.Ser512Asn Uncertain significance Single submitter
- TF p.Ser512Ile Uncertain significance Single submitter
- TF p.Ser629Ile Uncertain significance Single submitter
- TF p.Thr184Ala Uncertain significance Single submitter
- TF p.Thr686Ile Uncertain significance Single submitter
- TF p.Val426Ala Uncertain significance Single submitter
-
TF p.Val48Ile
Uncertain significance
Single submitter
atransferrinemia
- TF p.Val675Ile Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
-
TF p.Ala76Val
Likely benign
Multiple submitters
atransferrinemia
-
TF p.Ile229Thr
Uncertain significance
Multiple submitters
atransferrinemia
- TF p.Ala145Thr Uncertain significance Single submitter
- TF p.Arg162Cys Uncertain significance Single submitter
-
TF p.Arg343Trp
Conflicting
Single submitter
atransferrinemia
- TF p.Cys358Ser Uncertain significance Single submitter
- TF p.Cys639Arg Uncertain significance Single submitter
-
TF p.Glu394Lys
Uncertain significance
Single submitter
atransferrinemia
- TF p.Glu592Gly Uncertain significance Single submitter
- TF p.Glu75Lys Uncertain significance Single submitter
- TF p.Leu486Val Uncertain significance Single submitter
- TF p.Lys23Ile Uncertain significance Single submitter
- TF p.Phe293Cys Uncertain significance Single submitter
- TF p.Phe301Leu Uncertain significance Single submitter
- TF p.Ser31Leu Uncertain significance Single submitter
- TF p.Ser381Asn Uncertain significance Single submitter
- TF p.Ser500Ile Uncertain significance Single submitter
- TF p.Val270Ile Uncertain significance Single submitter
-
TF p.Asp77Asn
Pathogenic
No assertion criteria
atransferrinemia
-
TF p.Lys323Glu
Uncertain significance
No assertion criteria
TF-related disorder
All TF variants
Pathogenic 5
- p.Ala477Pro No assertion criteria atransferrinemia
- p.Asp77Asn No assertion criteria atransferrinemia ⚠
- p.Gln188fs No assertion criteria atransferrinemia
- p.Gly277Asp No assertion criteria Transferrin variant D1 ⚠
- p.Lys646Glu No assertion criteria Transferrin variant Bv ⚠
Likely pathogenic 12
- c.1872+1G>C Single submitter atransferrinemia
- c.216+2T>C Single submitter atransferrinemia
- c.325+1G>A Single submitter atransferrinemia
- p.Arg132Ter Single submitter atransferrinemia
- p.Arg273Ter Single submitter atransferrinemia
- p.Arg609Trp Single submitter atransferrinemia
- p.Gly335_Tyr336insTer Single submitter atransferrinemia
- p.His308fs Single submitter atransferrinemia
- p.Pro50fs Single submitter atransferrinemia
- p.Trp147Ter Single submitter atransferrinemia
- p.Trp363Ter Single submitter atransferrinemia
- p.Pro482Ser No assertion criteria atransferrinemia
Conflicting classifications of pathogenicity 11
- c.1204-14C>A Single submitter atransferrinemia
- c.43+8C>A Single submitter atransferrinemia
- c.502+12G>A Single submitter atransferrinemia
- p.Ala365= Single submitter atransferrinemia
- p.Arg343= Single submitter atransferrinemia
- p.Arg343Trp Single submitter atransferrinemia ⚠
- p.Asn595= Single submitter atransferrinemia
- p.Gly195= Single submitter atransferrinemia
- p.His369= Single submitter atransferrinemia
- p.Ser40Asn Single submitter atransferrinemia ⚠
- p.Ser55Arg Single submitter atransferrinemia ⚠
Benign 20
- c.635+13T>A Multiple submitters atransferrinemia
- c.-2A>G Multiple submitters atransferrinemia
- c.-84G>T Multiple submitters atransferrinemia
- p.Gly277Ser Multiple submitters atransferrinemia
- p.Gly538= Multiple submitters atransferrinemia
- p.His268= Multiple submitters atransferrinemia
- p.His319Arg Multiple submitters atransferrinemia
- p.Ile448Val Multiple submitters
- p.Leu247= Multiple submitters atransferrinemia
- p.Leu524= Multiple submitters atransferrinemia
- p.Pro194= Multiple submitters atransferrinemia
- p.Pro589Ser Multiple submitters atransferrinemia
- p.Ser144= Multiple submitters atransferrinemia
- p.Ser208= Multiple submitters atransferrinemia
- c.1049-10dup Single submitter
- c.1298-23T>C Single submitter
- c.1623-63del Single submitter atransferrinemia
- c.216+18A>G Single submitter
- c.43+26G>T Single submitter
- p.Arg42Leu Single submitter
Benign/Likely benign 10
- c.1688-4C>A Multiple submitters atransferrinemia
- c.216+14G>C Multiple submitters atransferrinemia
- c.216+16C>T Multiple submitters
- p.Asp296Gly Multiple submitters atransferrinemia
- p.Gln111= Multiple submitters atransferrinemia
- p.Lys331= Multiple submitters atransferrinemia
- p.Ser434= Multiple submitters atransferrinemia
- p.Thr139= Multiple submitters atransferrinemia
- p.Tyr416= Multiple submitters
- p.Tyr534= Multiple submitters atransferrinemia
Likely benign 316
Showing the top 300 by review status; the full set is in the sitemap.
- c.1048+11G>A Multiple submitters
- c.1203+12del Multiple submitters
- c.2062+20T>C Multiple submitters
- c.502+10C>A Multiple submitters
- c.636-20G>C Multiple submitters
- c.-65G>C Multiple submitters atransferrinemia
- p.Ala418= Multiple submitters
- p.Ala76Val Multiple submitters atransferrinemia ⚠
- p.Asn74= Multiple submitters
- p.Glu438= Multiple submitters
- p.Gly671Glu Multiple submitters atransferrinemia
- p.Ser174Leu Multiple submitters atransferrinemia
- p.Thr269= Multiple submitters
- p.Val270= Multiple submitters
- c.1048+13G>A Single submitter
- c.1048+15A>G Single submitter
- c.1048+16G>T Single submitter
- c.1048+17A>C Single submitter
- c.1048+8C>T Single submitter
- c.1048+9C>G Single submitter
- c.1049-13T>C Single submitter
- c.1049-16T>C Single submitter
- c.1049-18del Single submitter
- c.1049-19T>C Single submitter
- c.1049-20G>C Single submitter
- c.1049-7G>T Single submitter
- c.1203+11_1203+12insT Single submitter
- c.1203+12C>T Single submitter
- c.1203+15C>A Single submitter
- c.1203+16C>A Single submitter
- c.1203+19C>T Single submitter
- c.1203+8A>T Single submitter
- c.1203+9C>T Single submitter
- c.1204-12G>A Single submitter
- c.1204-15G>A Single submitter
- c.1204-15G>T Single submitter
- c.1297+12G>A Single submitter
- c.1297+13G>A Single submitter
- c.1297+19C>T Single submitter
- c.1298-5T>C Single submitter
- c.1298-9C>T Single submitter
- c.1330+12T>C Single submitter
- c.1330+14G>A Single submitter
- c.1330+15G>C Single submitter
- c.1330+18A>G Single submitter
- c.1330+19C>A Single submitter
- c.1330+22_1330+23del Single submitter
- c.1331-11C>A Single submitter
- c.1331-14T>C Single submitter
- c.1331-15G>A Single submitter
- c.1331-15G>C Single submitter
- c.1331-19T>C Single submitter
- c.1331-4G>A Single submitter
- c.1331-4G>T Single submitter
- c.1331-7C>T Single submitter
- c.1331-9T>C Single submitter
- c.1486+14G>C Single submitter
- c.1486+16G>T Single submitter
- c.1486+9A>T Single submitter
- c.1487-12C>G Single submitter
- c.1487-19C>T Single submitter
- c.1487-4A>G Single submitter
- c.1487-8C>A Single submitter
- c.1622+11T>A Single submitter
- c.1622+12A>C Single submitter
- c.1622+9T>G Single submitter
- c.1623-17C>T Single submitter
- c.1623-18A>G Single submitter
- c.1623-8C>A Single submitter
- c.1687+10C>T Single submitter
- c.1687+13G>C Single submitter
- c.1687+16C>T Single submitter
- c.1687+19C>G Single submitter
- c.1687+8C>T Single submitter
- c.1688-10C>T Single submitter
- c.1688-19A>G Single submitter
- c.1688-4C>G Single submitter
- c.1688-5C>T Single submitter
- c.1688-6C>T Single submitter
- c.1688-8G>A Single submitter
- c.1872+12C>T Single submitter
- c.1872+13C>T Single submitter
- c.1872+14A>G Single submitter
- c.1872+15G>C Single submitter
- c.1872+16G>A Single submitter
- c.1872+20T>C Single submitter
- c.1873-20A>G Single submitter
- c.1873-8C>T Single submitter
- c.1873-9A>G Single submitter
- c.2062+13_2062+22del Single submitter
- c.2062+15C>T Single submitter
- c.2062+16A>T Single submitter
- c.2063-13C>T Single submitter
- c.2063-18CTCTG[3] Single submitter
- c.2063-5C>T Single submitter
- c.216+11G>A Single submitter
- c.216+14G>A Single submitter
- c.216+19A>G Single submitter
- c.216+19A>T Single submitter
- c.216+7C>T Single submitter
- c.216+8G>A Single submitter
- c.217-12G>C Single submitter
- c.217-13T>C Single submitter
- c.217-14C>A Single submitter
- c.217-15C>T Single submitter
- c.217-5_217-4insG Single submitter
- c.217-5T>C Single submitter
- c.217-9C>T Single submitter
- c.325+16G>A Single submitter
- c.325+18C>T Single submitter
- c.325+8C>A Single submitter
- c.325+8C>T Single submitter
- c.326-12G>A Single submitter
- c.326-17A>G Single submitter
- c.326-8C>G Single submitter
- c.43+15G>A Single submitter
- c.43+15G>C Single submitter
- c.43+15G>T Single submitter
- c.43+9G>C Single submitter
- c.44-11C>T Single submitter
- c.44-14C>T Single submitter
- c.44-4_44-3del Single submitter
- c.44-4C>G Single submitter
- c.44-4C>T Single submitter
- c.44-6C>T Single submitter
- c.44-8dup Single submitter
- c.502+13G>A Single submitter
- c.502+15G>T Single submitter
- c.502+17C>G Single submitter
- c.503-12T>C Single submitter
- c.503-14T>C Single submitter
- c.635+11T>C Single submitter
- c.635+17C>T Single submitter
- c.635+20C>T Single submitter
- c.635+7G>A Single submitter
- c.636-18T>C Single submitter
- c.636-4C>G Single submitter
- c.636-5C>T Single submitter
- c.636-7G>A Single submitter
- c.636-7G>C Single submitter
- c.691+11G>A Single submitter
- c.691+13C>G Single submitter
- c.691+13C>T Single submitter
- c.691+18A>G Single submitter
- c.691+19T>A Single submitter
- c.691+9G>A Single submitter
- c.692-18T>A Single submitter
- c.692-18T>C Single submitter
- c.692-20C>T Single submitter
- c.692-5C>T Single submitter
- c.692-6C>T Single submitter
- c.692-8C>G Single submitter
- c.692-8del Single submitter
- c.870+10C>G Single submitter
- c.870+10C>T Single submitter
- c.870+15C>T Single submitter
- c.870+7C>T Single submitter
- c.871-17T>G Single submitter
- c.871-18_871-17del Single submitter
- c.871-19T>A Single submitter
- p.Ala118= Single submitter
- p.Ala12= Single submitter
- p.Ala181= Single submitter
- p.Ala218= Single submitter
- p.Ala318= Single submitter
- p.Ala35= Single submitter
- p.Ala398= Single submitter
- p.Ala4= Single submitter
- p.Ala428= Single submitter
- p.Ala477= Single submitter
- p.Ala504= Single submitter
- p.Ala550= Single submitter
- p.Ala594= Single submitter
- p.Ala601= Single submitter
- p.Ala76= Single submitter
- p.Arg2= Single submitter
- p.Arg273= Single submitter
- p.Arg346= Single submitter
- p.Arg371= Single submitter
- p.Arg42= Single submitter
- p.Arg494= Single submitter
- p.Arg609= Single submitter
- p.Arg642= Single submitter
- p.Arg696His Single submitter
- p.Asn148= Single submitter
- p.Asn249= Single submitter
- p.Asn480= Single submitter
- p.Asn491= Single submitter
- p.Asn529= Single submitter
- p.Asn565= Single submitter
- p.Asn630= Single submitter
- p.Asn637= Single submitter
- p.Asn637Lys Single submitter
- p.Asn95= Single submitter
- p.Asp280= Single submitter
- p.Asp311= Single submitter
- p.Asp375= Single submitter
- p.Asp395= Single submitter
- p.Asp548= Single submitter
- p.Asp611= Single submitter
- p.Asp647= Single submitter
- p.Cys180= Single submitter
- p.Cys350= Single submitter
- p.Cys358= Single submitter
- p.Cys596= Single submitter
- p.Cys615= Single submitter
- p.Cys684= Single submitter
- p.Gln203= Single submitter
- p.Glu102= Single submitter
- p.Glu370= Single submitter
- p.Glu376= Single submitter
- p.Glu386= Single submitter
- p.Glu391= Single submitter
- p.Gly142= Single submitter
- p.Gly183= Single submitter
- p.Gly276= Single submitter
- p.Gly474= Single submitter
- p.Gly519= Single submitter
- p.Gly532= Single submitter
- p.Gly562Val Single submitter
- p.Gly636= Single submitter
- p.Gly84= Single submitter
- p.His319= Single submitter
- p.His492= Single submitter
- p.His597= Single submitter
- p.His604= Single submitter
- p.Ile397= Single submitter
- p.Ile400= Single submitter
- p.Ile448= Single submitter
- p.Ile619= Single submitter
- p.Leu18= Single submitter
- p.Leu189= Single submitter
- p.Leu262= Single submitter
- p.Leu286= Single submitter
- p.Leu3= Single submitter
- p.Leu312= Single submitter
- p.Leu334= Single submitter
- p.Leu485= Single submitter
- p.Leu513= Single submitter
- p.Leu516= Single submitter
- p.Leu573= Single submitter
- p.Leu581= Single submitter
- p.Leu620= Single submitter
- p.Leu626= Single submitter
- p.Leu65= Single submitter
- p.Leu670= Single submitter
- p.Leu8= Single submitter
- p.Leu81= Single submitter
- p.Leu9= Single submitter
- p.Lys215= Single submitter
- p.Lys252= Single submitter
- p.Lys315= Single submitter
- p.Lys362= Single submitter
- p.Lys610= Single submitter
- p.Lys612= Single submitter
- p.Lys646= Single submitter
- p.Lys676= Single submitter
- p.Phe186= Single submitter
- p.Phe205= Single submitter
- p.Phe304= Single submitter
- p.Phe638= Single submitter
- p.Pro164= Single submitter
- p.Pro187= Single submitter
- p.Pro21= Single submitter
- p.Pro253= Single submitter
- p.Pro326= Single submitter
- p.Pro441= Single submitter
- p.Pro482= Single submitter
- p.Pro527= Single submitter
- p.Pro566= Single submitter
- p.Pro602= Single submitter
- p.Ser106= Single submitter
- p.Ser227= Single submitter
- p.Ser267= Single submitter
- p.Ser298= Single submitter
- p.Ser31= Single submitter
- p.Ser47= Single submitter
- p.Ser51= Single submitter
- p.Ser511= Single submitter
- p.Ser635= Single submitter
- p.Ser635Leu Single submitter
- p.Ser643= Single submitter
- p.Ser688Thr Single submitter
- p.Ter699= Single submitter
- p.Thr184= Single submitter
- p.Thr200= Single submitter
- p.Thr228= Single submitter
- p.Thr24= Single submitter
- p.Thr250= Single submitter
- p.Thr392= Single submitter
- p.Thr393= Single submitter
- p.Thr476= Single submitter
- p.Thr537= Single submitter
- p.Thr654= Single submitter
- p.Thr686= Single submitter
- p.Thr694= Single submitter
- p.Thr80= Single submitter
- p.Tyr114= Single submitter
- p.Tyr336= Single submitter
- p.Tyr338= Single submitter
Uncertain significance 106
- c.-18C>T Multiple submitters atransferrinemia
- p.Ala318Ser Multiple submitters ⚠
- p.Ala72Val Multiple submitters atransferrinemia ⚠
- p.Gln264Glu Multiple submitters atransferrinemia ⚠
- p.Gln559Leu Multiple submitters ⚠
- p.Ile229Thr Multiple submitters atransferrinemia ⚠
- p.Thr112Ala Multiple submitters atransferrinemia ⚠
- p.Val270Asp Multiple submitters ⚠
- p.Val451Ala Multiple submitters atransferrinemia ⚠
- c.1331-2A>G Single submitter
- c.1687+9A>C Single submitter atransferrinemia
- c.2063-11_2063-10del Single submitter atransferrinemia
- c.325+5G>A Single submitter
- c.-117G>A Single submitter atransferrinemia
- c.*361T>C Single submitter atransferrinemia
- c.*81A>G Single submitter atransferrinemia
- p.Ala145Thr Single submitter ⚠
- p.Ala170Thr Single submitter ⚠
- p.Ala181Val Single submitter ⚠
- p.Ala330Val Single submitter ⚠
- p.Ala390Thr Single submitter ⚠
- p.Ala405Val Single submitter
- p.Ala418Gly Single submitter ⚠
- p.Ala472Thr Single submitter ⚠
- p.Ala539Thr Single submitter atransferrinemia ⚠
- p.Ala72= Single submitter
- p.Ala92Val Single submitter ⚠
- p.Arg162Cys Single submitter ⚠
- p.Arg162His Single submitter ⚠
- p.Arg273Gln Single submitter ⚠
- p.Arg42His Single submitter ⚠
- p.Arg475Lys Single submitter
- p.Arg621Cys Single submitter ⚠
- p.Arg621His Single submitter ⚠
- p.Arg682Thr Single submitter ⚠
- p.Arg696Cys Single submitter ⚠
- p.Asn129Lys Single submitter ⚠
- p.Asn287Ser Single submitter ⚠
- p.Asn523Tyr Single submitter ⚠
- p.Asn528Ser Single submitter ⚠
- p.Asn94Ser Single submitter atransferrinemia ⚠
- p.Asp220Gly Single submitter
- p.Asp238Glu Single submitter ⚠
- p.Asp356Asn Single submitter ⚠
- p.Asp356Glu Single submitter ⚠
- p.Asp435Asn Single submitter ⚠
- p.Asp435Gly Single submitter ⚠
- p.Asp52Asn Single submitter atransferrinemia ⚠
- p.Asp652Gly Single submitter ⚠
- p.Cys358Ser Single submitter ⚠
- p.Cys38Tyr Single submitter atransferrinemia ⚠
- p.Cys517Tyr Single submitter ⚠
- p.Cys639Arg Single submitter ⚠
- p.Glu337Lys Single submitter ⚠
- p.Glu370Gly Single submitter ⚠
- p.Glu370Lys Single submitter ⚠
- p.Glu391Gln Single submitter ⚠
- p.Glu394Lys Single submitter atransferrinemia ⚠
- p.Glu526Lys Single submitter ⚠
- p.Glu592Gly Single submitter ⚠
- p.Glu592Lys Single submitter ⚠
- p.Glu75Lys Single submitter ⚠
- p.Gly348= Single submitter atransferrinemia
- p.Gly474Val Single submitter ⚠
- p.Gly547Arg Single submitter atransferrinemia ⚠
- p.His625Asp Single submitter ⚠
- p.His661Arg Single submitter ⚠
- p.Ile400Val Single submitter atransferrinemia ⚠
- p.Ile71Thr Single submitter ⚠
- p.Leu262Trp Single submitter ⚠
- p.Leu285Phe Single submitter ⚠
- p.Leu3Phe Single submitter ⚠
- p.Leu486Val Single submitter ⚠
- p.Leu689Val Single submitter ⚠
- p.Lys23Ile Single submitter ⚠
- p.Lys359Asn Single submitter ⚠
- p.Lys373Arg Single submitter
- p.Lys571Glu Single submitter ⚠
- p.Phe293Cys Single submitter ⚠
- p.Phe301Leu Single submitter ⚠
- p.Pro161Ser Single submitter ⚠
- p.Pro307Leu Single submitter ⚠
- p.Pro425Leu Single submitter ⚠
- p.Pro441Thr Single submitter ⚠
- p.Pro602Gln Single submitter atransferrinemia ⚠
- p.Ser199Phe Single submitter
- p.Ser227Leu Single submitter atransferrinemia ⚠
- p.Ser274Cys Single submitter ⚠
- p.Ser31Leu Single submitter ⚠
- p.Ser381Arg Single submitter ⚠
- p.Ser381Asn Single submitter ⚠
- p.Ser500Ile Single submitter ⚠
- p.Ser512Arg Single submitter ⚠
- p.Ser512Asn Single submitter ⚠
- p.Ser512Ile Single submitter ⚠
- p.Ser629Ile Single submitter ⚠
- p.Thr184Ala Single submitter ⚠
- p.Thr686Ile Single submitter ⚠
- p.Tyr104Cys Single submitter atransferrinemia
- p.Val270Ile Single submitter ⚠
- p.Val271Ala Single submitter
- p.Val426Ala Single submitter ⚠
- p.Val48Ile Single submitter atransferrinemia ⚠
- p.Val675Ile Single submitter ⚠
- p.Glu357Ter No assertion criteria prostate cancer
- p.Lys323Glu No assertion criteria TF-related disorder ⚠