RPN2 — 245 ClinVar variants
All ClinVar germline RPN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →
1 Conflicting · 38 Benign · 3 Benign/Likely benign · 81 Likely benign · 122 Uncertain significance
Full RPN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 115
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RPN2 p.Ala63Val
Conflicting
Single submitter
congenital disorder of glycosylation
Predictors lean, ClinVar uncertain 87
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RPN2 p.Ala558Thr
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
RPN2 p.Arg76Thr
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
RPN2 p.Asn497Ser
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
RPN2 p.Asp85Gly
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
RPN2 p.Glu182Asp
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
RPN2 p.His439Arg
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
RPN2 p.Ile578Met
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
RPN2 p.Pro506Ala
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
RPN2 p.Pro66Ser
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
RPN2 p.Val269Met
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
RPN2 p.Val514Ile
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
RPN2 p.Ala13Thr
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Ala140Val
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Ala22Thr
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Ala239Thr
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Ala239Val
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Ala303Thr Uncertain significance Single submitter
-
RPN2 p.Ala360Val
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Ala400Thr Uncertain significance Single submitter
- RPN2 p.Ala427Ser Uncertain significance Single submitter
-
RPN2 p.Ala565Pro
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Arg151His Uncertain significance Single submitter
-
RPN2 p.Arg266Leu
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Arg316Gly Uncertain significance Single submitter
- RPN2 p.Arg531Leu Uncertain significance Single submitter
-
RPN2 p.Arg536Ser
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Arg562Gln
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Arg562Trp
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Arg619Trp
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Asn294Ser
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Asn455His
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Asp110Glu Uncertain significance Single submitter
- RPN2 p.Asp220Glu Uncertain significance Single submitter
-
RPN2 p.Asp231Gly
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Asp42Gly Uncertain significance Single submitter
- RPN2 p.Cys72Tyr Uncertain significance Single submitter
- RPN2 p.Gln285Leu Uncertain significance Single submitter
-
RPN2 p.Gln441Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Gln92Arg Uncertain significance Single submitter
-
RPN2 p.Glu225Lys
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Glu353Lys
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Glu452Lys Uncertain significance Single submitter
-
RPN2 p.Gly426Asp
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Gly62Ser
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.His268Gln
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Ile17Met
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Ile234Thr Uncertain significance Single submitter
- RPN2 p.Ile407Phe Uncertain significance Single submitter
- RPN2 p.Ile470Leu Uncertain significance Single submitter
- RPN2 p.Ile494Leu Uncertain significance Single submitter
- RPN2 p.Ile494Val Uncertain significance Single submitter
- RPN2 p.Ile608Met Uncertain significance Single submitter
-
RPN2 p.Leu132Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Leu29Phe
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Lys340Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Met590Leu Uncertain significance Single submitter
- RPN2 p.Pro552Ala Uncertain significance Single submitter
-
RPN2 p.Ser105Ala
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Ser263Leu Uncertain significance Single submitter
-
RPN2 p.Ser342Phe
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Ser40Leu
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Ser474Cys
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Ser512Leu
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Ser82Gly
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Thr149Ile
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Thr208Ile Uncertain significance Single submitter
- RPN2 p.Thr215Ile Uncertain significance Single submitter
- RPN2 p.Thr282Ser Uncertain significance Single submitter
- RPN2 p.Thr478Asn Uncertain significance Single submitter
-
RPN2 p.Thr73Ile
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Tyr126His Uncertain significance Single submitter
- RPN2 p.Tyr216Cys Uncertain significance Single submitter
- RPN2 p.Tyr479Cys Uncertain significance Single submitter
-
RPN2 p.Tyr53His
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Tyr591His
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Val129Ile Uncertain significance Single submitter
- RPN2 p.Val197Met Uncertain significance Single submitter
- RPN2 p.Val255Met Uncertain significance Single submitter
- RPN2 p.Val261Glu Uncertain significance Single submitter
- RPN2 p.Val274Met Uncertain significance Single submitter
- RPN2 p.Val295Gly Uncertain significance Single submitter
- RPN2 p.Val363Ile Uncertain significance Single submitter
- RPN2 p.Val373Ala Uncertain significance Single submitter
-
RPN2 p.Val540Met
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Val592Ile Uncertain significance Single submitter
-
RPN2 p.Val65Leu
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Val9Ile
Uncertain significance
Single submitter
congenital disorder of glycosylation
Predictors split 27
The independent predictors disagree with each other — read with care.
-
RPN2 p.Ala584Ser
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
RPN2 p.Asn543Ser
Uncertain significance
Multiple submitters
congenital disorder of glycosylation
-
RPN2 p.Ala160Val
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Ala258Val
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Ala558Pro Uncertain significance Single submitter
- RPN2 p.Ala565Thr Uncertain significance Single submitter
- RPN2 p.Ala616Gly Uncertain significance Single submitter
- RPN2 p.Ala91Thr Uncertain significance Single submitter
-
RPN2 p.Ala96Pro
Uncertain significance
Single submitter
congenital disorder of glycosylation
-
RPN2 p.Arg266Cys
Likely benign
Single submitter
congenital disorder of glycosylation
- RPN2 p.Arg289Trp Uncertain significance Single submitter
-
RPN2 p.Arg437Gln
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Arg536Lys Uncertain significance Single submitter
- RPN2 p.Arg619Gln Uncertain significance Single submitter
-
RPN2 p.Glu532Lys
Likely benign
Single submitter
congenital disorder of glycosylation
- RPN2 p.Gly344Asp Uncertain significance Single submitter
-
RPN2 p.Gly62Ala
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.His583Tyr Uncertain significance Single submitter
- RPN2 p.Ile484Val Uncertain significance Single submitter
-
RPN2 p.Leu152Phe
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Leu205Arg Uncertain significance Single submitter
- RPN2 p.Leu515Trp Uncertain significance Single submitter
- RPN2 p.Phe325Leu Uncertain significance Single submitter
- RPN2 p.Pro552Leu Uncertain significance Single submitter
-
RPN2 p.Ser312Cys
Uncertain significance
Single submitter
congenital disorder of glycosylation
- RPN2 p.Tyr216His Uncertain significance Single submitter
- RPN2 p.Tyr358Cys Uncertain significance Single submitter
All RPN2 variants
Conflicting classifications of pathogenicity 1
- p.Ala63Val Single submitter congenital disorder of glycosylation ⚠
Benign 38
- c.1184+23A>C Multiple submitters
- c.1184+78G>C Multiple submitters
- c.1185-82A>G Multiple submitters
- c.13+241C>T Multiple submitters
- c.14-57C>A Multiple submitters
- c.1753+210T>C Multiple submitters
- c.1753+46T>A Multiple submitters
- c.1883+1953A>G Multiple submitters
- c.1884-168A>G Multiple submitters
- c.1884-87C>T Multiple submitters
- c.208-117T>G Multiple submitters
- c.303+14C>T Multiple submitters congenital disorder of glycosylation
- c.479+54G>T Multiple submitters
- c.691-178A>G Multiple submitters
- c.691-19C>T Multiple submitters congenital disorder of glycosylation
- c.867+37A>G Multiple submitters
- c.868-78T>A Multiple submitters
- c.986+188G>A Multiple submitters
- c.986+23T>C Multiple submitters
- p.Leu555= Multiple submitters congenital disorder of glycosylation
- p.Leu609= Multiple submitters congenital disorder of glycosylation
- p.Tyr89His Multiple submitters congenital disorder of glycosylation
- p.Val501Leu Multiple submitters congenital disorder of glycosylation
- c.1093-230dup Single submitter
- c.1184+114A>G Single submitter
- c.1300-20T>G Single submitter congenital disorder of glycosylation
- c.1494+235_1494+236insACCTT Single submitter
- c.1582-269G>A Single submitter
- c.1678-7C>G Single submitter congenital disorder of glycosylation
- c.1754-254A>G Single submitter
- c.1883+239G>A Single submitter
- c.1883+250del Single submitter
- c.207+253G>A Single submitter
- c.303+142_303+143dup Single submitter
- c.479+214A>G Single submitter
- c.690+146A>G Single submitter
- p.Phe557= Single submitter congenital disorder of glycosylation
- p.Val458Leu Single submitter congenital disorder of glycosylation
Benign/Likely benign 3
- c.303+8C>T Multiple submitters congenital disorder of glycosylation
- p.Asp281Asn Multiple submitters congenital disorder of glycosylation
- p.Gly374Asp Multiple submitters congenital disorder of glycosylation
Likely benign 81
- c.1299+119C>T Multiple submitters
- c.14-109C>T Multiple submitters
- c.867+12A>G Multiple submitters congenital disorder of glycosylation
- c.1093-12A>G Single submitter congenital disorder of glycosylation
- c.1184+16C>T Single submitter congenital disorder of glycosylation
- c.1185-15A>G Single submitter congenital disorder of glycosylation
- c.1185-17C>T Single submitter congenital disorder of glycosylation
- c.1299+12A>T Single submitter congenital disorder of glycosylation
- c.13+11G>T Single submitter congenital disorder of glycosylation
- c.13+12C>G Single submitter congenital disorder of glycosylation
- c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT Single submitter congenital disorder of glycosylation
- c.13+21_13+22insACAGACAGGGCCCCGCGGCCGGCACTCTT Single submitter congenital disorder of glycosylation
- c.13+21_13+22insATAGACAGGGCCCCGCGGCCGGCACTCTT Single submitter congenital disorder of glycosylation
- c.13+21_13+22insATAGACAGGGCCCGCGGCCGGCACTCTT Single submitter congenital disorder of glycosylation
- c.13+21_13+22insATAGACAGGGCCCGGCGGCCGGCACTCTT Single submitter congenital disorder of glycosylation
- c.13+21_13+22insATAGACGGGGCCCCGCGGCCGGCACTCTT Single submitter congenital disorder of glycosylation
- c.14-4C>G Single submitter congenital disorder of glycosylation
- c.14-6C>G Single submitter congenital disorder of glycosylation
- c.14-9C>T Single submitter congenital disorder of glycosylation
- c.1495-19_1495-18del Single submitter congenital disorder of glycosylation
- c.1581+20T>G Single submitter congenital disorder of glycosylation
- c.1582-42G>A Single submitter
- c.1582-6C>G Single submitter congenital disorder of glycosylation
- c.1677+19C>T Single submitter congenital disorder of glycosylation
- c.1677+20G>A Single submitter congenital disorder of glycosylation
- c.1678-4T>C Single submitter congenital disorder of glycosylation
- c.1883+13A>G Single submitter congenital disorder of glycosylation
- c.207+17C>T Single submitter congenital disorder of glycosylation
- c.207+20G>A Single submitter congenital disorder of glycosylation
- c.207+9G>A Single submitter congenital disorder of glycosylation
- c.303+14C>G Single submitter congenital disorder of glycosylation
- c.303+18C>T Single submitter congenital disorder of glycosylation
- c.303+9G>A Single submitter congenital disorder of glycosylation
- c.479+15C>T Single submitter congenital disorder of glycosylation
- c.480-18C>G Single submitter congenital disorder of glycosylation
- c.556-4G>T Single submitter congenital disorder of glycosylation
- c.986+17T>A Single submitter congenital disorder of glycosylation
- p.Ala168= Single submitter congenital disorder of glycosylation
- p.Ala451= Single submitter congenital disorder of glycosylation
- p.Arg266Cys Single submitter congenital disorder of glycosylation ⚠
- p.Arg531= Single submitter congenital disorder of glycosylation
- p.Asn238= Single submitter congenital disorder of glycosylation
- p.Asn338= Single submitter congenital disorder of glycosylation
- p.Asn457= Single submitter congenital disorder of glycosylation
- p.Asn492= Single submitter congenital disorder of glycosylation
- p.Asn543Asp Single submitter congenital disorder of glycosylation
- p.Asp231= Single submitter congenital disorder of glycosylation
- p.Asp33= Single submitter congenital disorder of glycosylation
- p.Asp454= Single submitter congenital disorder of glycosylation
- p.Gln517= Single submitter congenital disorder of glycosylation
- p.Glu107= Single submitter congenital disorder of glycosylation
- p.Glu532Lys Single submitter congenital disorder of glycosylation ⚠
- p.Gly196= Single submitter congenital disorder of glycosylation
- p.His268= Single submitter congenital disorder of glycosylation
- p.Ile526= Single submitter congenital disorder of glycosylation
- p.Leu132= Single submitter congenital disorder of glycosylation
- p.Leu159= Single submitter congenital disorder of glycosylation
- p.Leu296= Single submitter congenital disorder of glycosylation
- p.Leu416= Single submitter congenital disorder of glycosylation
- p.Leu495= Single submitter congenital disorder of glycosylation
- p.Leu61= Single submitter congenital disorder of glycosylation
- p.Pro327= Single submitter congenital disorder of glycosylation
- p.Pro506= Single submitter congenital disorder of glycosylation
- p.Ser19= Single submitter congenital disorder of glycosylation
- p.Ser280= Single submitter congenital disorder of glycosylation
- p.Ser466= Single submitter congenital disorder of glycosylation
- p.Ser512= Single submitter congenital disorder of glycosylation
- p.Ser551= Single submitter congenital disorder of glycosylation
- p.Ser6= Single submitter congenital disorder of glycosylation
- p.Thr26= Single submitter congenital disorder of glycosylation
- p.Thr362= Single submitter congenital disorder of glycosylation
- p.Thr434= Single submitter congenital disorder of glycosylation
- p.Thr46= Single submitter congenital disorder of glycosylation
- p.Thr539= Single submitter congenital disorder of glycosylation
- p.Thr613= Single submitter congenital disorder of glycosylation
- p.Tyr89= Single submitter congenital disorder of glycosylation
- p.Val162Ile Single submitter congenital disorder of glycosylation
- p.Val328= Single submitter congenital disorder of glycosylation
- p.Val383Met Single submitter congenital disorder of glycosylation
- p.Val458Met Single submitter congenital disorder of glycosylation
- p.Val56Met Single submitter congenital disorder of glycosylation
Uncertain significance 122
- p.Ala558Thr Multiple submitters congenital disorder of glycosylation ⚠
- p.Ala584Ser Multiple submitters congenital disorder of glycosylation ⚠
- p.Arg76Thr Multiple submitters congenital disorder of glycosylation ⚠
- p.Asn497Ser Multiple submitters congenital disorder of glycosylation ⚠
- p.Asn543Ser Multiple submitters congenital disorder of glycosylation ⚠
- p.Asp85Gly Multiple submitters congenital disorder of glycosylation ⚠
- p.Glu182Asp Multiple submitters congenital disorder of glycosylation ⚠
- p.His439Arg Multiple submitters congenital disorder of glycosylation ⚠
- p.Ile578Met Multiple submitters congenital disorder of glycosylation ⚠
- p.Pro506Ala Multiple submitters congenital disorder of glycosylation ⚠
- p.Pro66Ser Multiple submitters congenital disorder of glycosylation ⚠
- p.Val269Met Multiple submitters congenital disorder of glycosylation ⚠
- p.Val514Ile Multiple submitters congenital disorder of glycosylation ⚠
- p.Ala13Thr Single submitter congenital disorder of glycosylation ⚠
- p.Ala140Val Single submitter congenital disorder of glycosylation ⚠
- p.Ala160Val Single submitter congenital disorder of glycosylation ⚠
- p.Ala22Thr Single submitter congenital disorder of glycosylation ⚠
- p.Ala239Thr Single submitter congenital disorder of glycosylation ⚠
- p.Ala239Val Single submitter congenital disorder of glycosylation ⚠
- p.Ala258Val Single submitter congenital disorder of glycosylation ⚠
- p.Ala303Thr Single submitter ⚠
- p.Ala360Val Single submitter congenital disorder of glycosylation ⚠
- p.Ala400Thr Single submitter ⚠
- p.Ala427Ser Single submitter ⚠
- p.Ala558Pro Single submitter ⚠
- p.Ala565Pro Single submitter congenital disorder of glycosylation ⚠
- p.Ala565Thr Single submitter ⚠
- p.Ala616Gly Single submitter ⚠
- p.Ala91Thr Single submitter ⚠
- p.Ala96Pro Single submitter congenital disorder of glycosylation ⚠
- p.Arg151His Single submitter ⚠
- p.Arg266Leu Single submitter congenital disorder of glycosylation ⚠
- p.Arg289Trp Single submitter ⚠
- p.Arg316Gly Single submitter ⚠
- p.Arg395Trp Single submitter
- p.Arg437Gln Single submitter congenital disorder of glycosylation ⚠
- p.Arg531Leu Single submitter ⚠
- p.Arg536Lys Single submitter ⚠
- p.Arg536Ser Single submitter congenital disorder of glycosylation ⚠
- p.Arg562Gln Single submitter congenital disorder of glycosylation ⚠
- p.Arg562Trp Single submitter congenital disorder of glycosylation ⚠
- p.Arg619Gln Single submitter ⚠
- p.Arg619Trp Single submitter congenital disorder of glycosylation ⚠
- p.Asn294Ser Single submitter congenital disorder of glycosylation ⚠
- p.Asn455His Single submitter congenital disorder of glycosylation ⚠
- p.Asp110Glu Single submitter ⚠
- p.Asp220Glu Single submitter ⚠
- p.Asp231Gly Single submitter congenital disorder of glycosylation ⚠
- p.Asp42Gly Single submitter ⚠
- p.Cys72Tyr Single submitter ⚠
- p.Gln285Leu Single submitter ⚠
- p.Gln291= Single submitter congenital disorder of glycosylation
- p.Gln441Arg Single submitter congenital disorder of glycosylation ⚠
- p.Gln92Arg Single submitter ⚠
- p.Glu225Lys Single submitter congenital disorder of glycosylation ⚠
- p.Glu353Lys Single submitter congenital disorder of glycosylation ⚠
- p.Glu452Lys Single submitter ⚠
- p.Gly344Asp Single submitter ⚠
- p.Gly426Asp Single submitter congenital disorder of glycosylation ⚠
- p.Gly62Ala Single submitter congenital disorder of glycosylation ⚠
- p.Gly62Ser Single submitter congenital disorder of glycosylation ⚠
- p.His268Gln Single submitter congenital disorder of glycosylation ⚠
- p.His583Tyr Single submitter ⚠
- p.Ile17Met Single submitter congenital disorder of glycosylation ⚠
- p.Ile180= Single submitter
- p.Ile180Thr Single submitter congenital disorder of glycosylation
- p.Ile234Thr Single submitter ⚠
- p.Ile407Phe Single submitter ⚠
- p.Ile470Leu Single submitter ⚠
- p.Ile484Val Single submitter ⚠
- p.Ile494Leu Single submitter ⚠
- p.Ile494Val Single submitter ⚠
- p.Ile608Met Single submitter ⚠
- p.Leu132Arg Single submitter congenital disorder of glycosylation ⚠
- p.Leu152Phe Single submitter congenital disorder of glycosylation ⚠
- p.Leu205Arg Single submitter ⚠
- p.Leu29Phe Single submitter congenital disorder of glycosylation ⚠
- p.Leu515Trp Single submitter ⚠
- p.Leu553Met Single submitter congenital disorder of glycosylation
- p.Lys340Arg Single submitter congenital disorder of glycosylation ⚠
- p.Met590Leu Single submitter ⚠
- p.Phe325Leu Single submitter ⚠
- p.Pro4= Single submitter congenital disorder of glycosylation
- p.Pro552Ala Single submitter ⚠
- p.Pro552Leu Single submitter ⚠
- p.Ser105Ala Single submitter congenital disorder of glycosylation ⚠
- p.Ser263Leu Single submitter ⚠
- p.Ser312Cys Single submitter congenital disorder of glycosylation ⚠
- p.Ser342Phe Single submitter congenital disorder of glycosylation ⚠
- p.Ser40Leu Single submitter congenital disorder of glycosylation ⚠
- p.Ser474Cys Single submitter congenital disorder of glycosylation ⚠
- p.Ser512Leu Single submitter congenital disorder of glycosylation ⚠
- p.Ser82Gly Single submitter congenital disorder of glycosylation ⚠
- p.Thr149fs Single submitter congenital disorder of glycosylation
- p.Thr149Ile Single submitter congenital disorder of glycosylation ⚠
- p.Thr208Ile Single submitter ⚠
- p.Thr215Ile Single submitter ⚠
- p.Thr282Ser Single submitter ⚠
- p.Thr478Asn Single submitter ⚠
- p.Thr73Ile Single submitter congenital disorder of glycosylation ⚠
- p.Tyr126His Single submitter ⚠
- p.Tyr216Cys Single submitter ⚠
- p.Tyr216His Single submitter ⚠
- p.Tyr345Gly Single submitter congenital disorder of glycosylation
- p.Tyr358Cys Single submitter ⚠
- p.Tyr479Cys Single submitter ⚠
- p.Tyr53His Single submitter congenital disorder of glycosylation ⚠
- p.Tyr591His Single submitter congenital disorder of glycosylation ⚠
- p.Val129Ile Single submitter ⚠
- p.Val197Met Single submitter ⚠
- p.Val255Met Single submitter ⚠
- p.Val261Glu Single submitter ⚠
- p.Val274Met Single submitter ⚠
- p.Val295Gly Single submitter ⚠
- p.Val305Leu Single submitter congenital disorder of glycosylation
- p.Val363Ile Single submitter ⚠
- p.Val367Ala Single submitter congenital disorder of glycosylation
- p.Val373Ala Single submitter ⚠
- p.Val540Met Single submitter congenital disorder of glycosylation ⚠
- p.Val592Ile Single submitter ⚠
- p.Val65Leu Single submitter congenital disorder of glycosylation ⚠
- p.Val9Ile Single submitter congenital disorder of glycosylation ⚠