MOCOS — 525 ClinVar variants
All ClinVar germline MOCOS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 254 flagged for review →
13 Pathogenic · 2 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 13 Conflicting · 59 Benign · 18 Benign/Likely benign · 119 Likely benign · 274 Uncertain significance
Full MOCOS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 254
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 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MOCOS p.Ala297Val
Conflicting
Single submitter
xanthinuria type II
-
MOCOS p.Arg373Gln
Conflicting
Single submitter
xanthinuria type II
-
MOCOS p.Arg527Cys
Conflicting
Single submitter
xanthinuria type II
-
MOCOS p.Arg801His
Conflicting
Single submitter
xanthinuria type II
-
MOCOS p.Gly506Trp
Conflicting
Single submitter
xanthinuria type II
-
MOCOS p.Met439Thr
Conflicting
Single submitter
xanthinuria type II
-
MOCOS p.Met73Thr
Conflicting
Single submitter
xanthinuria type II
-
MOCOS p.Met843Val
Conflicting
Single submitter
xanthinuria type II
-
MOCOS p.Pro21Ser
Conflicting
Single submitter
xanthinuria type II
Predictors lean, ClinVar uncertain 198
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 198
-
MOCOS p.Ala16Val
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ala252Thr
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ala297Glu
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ala327Val
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ala369Asp
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ala411Val
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ala5Val
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg10Trp
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg173Gly
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg223Gln
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg280Cys
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg280His
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg337Cys
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg337His
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg431Lys
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg45His
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg614Trp
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg644Trp
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg668Gln
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg668Trp
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg672Cys
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg776His
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Asn367Ser
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Asn453Ser
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Asn543Lys
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Asn607Ser
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Asn714Lys
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Cys558Tyr
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Gln803Glu
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Gln83Glu
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Glu181Lys
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Glu218Val
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Glu37Gly
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Glu438Gln
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Glu656Asp
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Glu870Gln
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Gly267Arg
Uncertain significance
Multiple submitters
xanthinuria type II
- MOCOS p.Gly33Asp Uncertain significance Multiple submitters
-
MOCOS p.Gly3Ala
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Gly3Arg
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Gly451Arg
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Gly506Arg
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Gly573Glu
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Gly577Glu
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Gly798Ser
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.His582Gln
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ile401Thr
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ile435Met
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Leu102Gln
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Leu456Pro
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Lys264Glu
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Met728Arg
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Met843Thr
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Pro138Leu
Uncertain significance
Multiple submitters
xanthinuria type II
- MOCOS p.Pro226Leu Uncertain significance Multiple submitters
-
MOCOS p.Pro499Leu
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ser246Pro
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ser310Leu
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ser539Phe
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ser674Asn
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ser757Asn
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Thr113Ala
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Thr121Met
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Thr14Ser
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Thr229Met
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Thr93Ala
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Tyr365His
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Val161Met
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Val243Met
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ala103Val
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Ala16Ser Uncertain significance Single submitter
- MOCOS p.Ala282Val Uncertain significance Single submitter
-
MOCOS p.Ala295Asp
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Ala2Thr
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Ala2Val Uncertain significance Single submitter
-
MOCOS p.Ala300Val
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Ala369Val Uncertain significance Single submitter
- MOCOS p.Ala446Ser Uncertain significance Single submitter
-
MOCOS p.Ala501Val
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Ala535Ser Uncertain significance Single submitter
- MOCOS p.Ala550Ser Uncertain significance Single submitter
-
MOCOS p.Ala572Val
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Ala678Val
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Ala729Val
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Arg183Cys
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Arg19Trp
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Arg466Thr Uncertain significance Single submitter
-
MOCOS p.Arg614Gln
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Arg700His Uncertain significance Single submitter
- MOCOS p.Arg774Ser Uncertain significance Single submitter
- MOCOS p.Arg801Cys Uncertain significance Single submitter
-
MOCOS p.Arg810Ser
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Arg98Cys Uncertain significance Single submitter
-
MOCOS p.Asn160Lys
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Asn166Asp Uncertain significance Single submitter
- MOCOS p.Asn205Lys Uncertain significance Single submitter
-
MOCOS p.Asn549Lys
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Asn622Ser
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Asn710Asp
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Asn755Ser Uncertain significance Single submitter
- MOCOS p.Asn778Lys Uncertain significance Single submitter
- MOCOS p.Asn782Ser Uncertain significance Single submitter
- MOCOS p.Asp191His Uncertain significance Single submitter
-
MOCOS p.Asp191Val
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Asp238Val Uncertain significance Single submitter
-
MOCOS p.Asp408Glu
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Asp455Gly
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Asp476Glu
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Asp495Val
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Asp504Asn
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Cys146Ser Uncertain significance Single submitter
-
MOCOS p.Cys429Arg
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Cys450Ser
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Cys450Tyr
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Gln136His
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Gln354Arg
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Gln812His Uncertain significance Single submitter
- MOCOS p.Gln825His Uncertain significance Single submitter
-
MOCOS p.Glu74Gln
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Glu764Gln Uncertain significance Single submitter
- MOCOS p.Glu764Gly Uncertain significance Single submitter
- MOCOS p.Glu790Asp Uncertain significance Single submitter
-
MOCOS p.Gly17Cys
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Gly31Arg Uncertain significance Single submitter
-
MOCOS p.Gly31Cys
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Gly33Ala
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Gly387Asp Uncertain significance Single submitter
- MOCOS p.Gly509Glu Uncertain significance Single submitter
- MOCOS p.Gly609Glu Uncertain significance Single submitter
-
MOCOS p.Gly720Glu
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Gly798Ala Uncertain significance Single submitter
-
MOCOS p.Gly806Arg
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Gly821Val Uncertain significance Single submitter
-
MOCOS p.His196Arg
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.His502Tyr Uncertain significance Single submitter
-
MOCOS p.His719Tyr
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.His883Arg Uncertain significance Single submitter
-
MOCOS p.His883Gln
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Ile374Thr
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Ile520Thr
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Leu12Met
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Leu413Phe
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Leu456Val
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Leu529Pro
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Leu731Val
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Leu754Val
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Leu773Phe Uncertain significance Single submitter
-
MOCOS p.Lys264Asn
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Lys706Arg
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Lys838Glu Uncertain significance Single submitter
Predictors split 47
The independent predictors disagree with each other — read with care.
-
MOCOS p.Ala274Thr
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg223Trp
Likely benign
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg373Trp
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Arg752Trp
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ile658Thr
Uncertain significance
Multiple submitters
xanthinuria type II
- MOCOS p.Ile797Thr Uncertain significance Multiple submitters
-
MOCOS p.Met617Val
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Phe304Leu
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Pro171Leu
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Thr474Met
Uncertain significance
Multiple submitters
xanthinuria type II
-
MOCOS p.Ala202Gly
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Ala239Thr Uncertain significance Single submitter
- MOCOS p.Ala55Thr Uncertain significance Single submitter
-
MOCOS p.Arg45Cys
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Arg633Trp
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Arg774Cys
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Arg835Cys
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Arg835His
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Asp256Asn
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Asp377Gly
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Asp458Gly
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Asp817Tyr Uncertain significance Single submitter
-
MOCOS p.Glu631Asp
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Gly231Glu
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Gly368Glu
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Gly48Arg
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Ile457Thr Uncertain significance Single submitter
-
MOCOS p.Ile467Met
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Ile780Thr
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Leu148Phe
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Leu587Phe Uncertain significance Single submitter
- MOCOS p.Leu731Phe Uncertain significance Single submitter
- MOCOS p.Lys220Met Uncertain significance Single submitter
-
MOCOS p.Met472Leu
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Met813Val Uncertain significance Single submitter
- MOCOS p.Phe697Val Uncertain significance Single submitter
-
MOCOS p.Pro132Ala
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Pro132Leu Uncertain significance Single submitter
-
MOCOS p.Ser143Asn
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Ser246Leu
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Thr121Ser
Uncertain significance
Single submitter
xanthinuria type II
- MOCOS p.Tyr112His Uncertain significance Single submitter
-
MOCOS p.Tyr242Ser
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Val227Met
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Val372Met
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Val449Phe
Uncertain significance
Single submitter
xanthinuria type II
-
MOCOS p.Val605Ala
Uncertain significance
Single submitter
xanthinuria type II
All MOCOS variants
Pathogenic 13
- p.Arg419Ter Multiple submitters xanthinuria type II
- p.Ala786fs Single submitter xanthinuria type II
- p.Gln564Ter Single submitter xanthinuria type II
- p.Ile306fs Single submitter xanthinuria type II
- p.Ile402fs Single submitter xanthinuria type II
- p.Lys629fs Single submitter xanthinuria type II
- p.Pro556fs Single submitter xanthinuria type II
- p.Ser757fs Single submitter xanthinuria type II
- p.Trp603Ter Single submitter xanthinuria type II
- p.Trp792Ter Single submitter xanthinuria type II
- p.Tyr590fs Single submitter xanthinuria type II
- p.Ala57Pro No assertion criteria xanthinuria type II
- p.Gln347fs No assertion criteria xanthinuria type II
Pathogenic/Likely pathogenic 2
- p.Arg776Cys Multiple submitters xanthinuria type II
- p.Ser545Ter Multiple submitters xanthinuria type II
Likely pathogenic 27
- c.1218+1G>C Multiple submitters xanthinuria type II
- c.2164+2T>C Multiple submitters xanthinuria type II
- c.232+1G>A Multiple submitters xanthinuria type II
- p.Gln516Ter Multiple submitters MOCOS-related disorder
- p.Glu42Ter Multiple submitters xanthinuria type II
- p.Glu763Ter Multiple submitters MOCOS-related disorder
- c.1335+1G>T Single submitter xanthinuria type II
- c.143-2A>T Single submitter xanthinuria type II
- c.1797+1G>A Single submitter MOCOS-related disorder
- c.1960+2_1960+3del Single submitter xanthinuria type II
- c.2164+1del Single submitter xanthinuria type II
- c.2271-1G>A Single submitter xanthinuria type II
- c.300-1G>C Single submitter xanthinuria type II
- c.942-1G>T Single submitter xanthinuria type II
- p.Ala164_Ile165insTer Single submitter MOCOS-related disorder
- p.Glu66Ter Single submitter xanthinuria type II
- p.Glu790fs Single submitter xanthinuria type II
- p.Gly273fs Single submitter xanthinuria type II
- p.Leu213fs Single submitter xanthinuria type II
- p.Leu643fs Single submitter xanthinuria type II
- p.Pro24fs Single submitter xanthinuria type II
- p.Pro591Ser Single submitter xanthinuria type II
- p.Thr462fs Single submitter xanthinuria type II
- p.Trp496Ter Single submitter xanthinuria type II
- p.Tyr684Ter Single submitter xanthinuria type II
- p.Tyr77Ter Single submitter xanthinuria type II
- p.Val94fs Single submitter xanthinuria type II
Conflicting classifications of pathogenicity 13
- p.Ala281= Single submitter xanthinuria type II
- p.Ala297Val Single submitter xanthinuria type II ⚠
- p.Arg373Gln Single submitter xanthinuria type II ⚠
- p.Arg527Cys Single submitter xanthinuria type II ⚠
- p.Arg801His Single submitter xanthinuria type II ⚠
- p.Cys635= Single submitter xanthinuria type II
- p.Gly506Trp Single submitter xanthinuria type II ⚠
- p.Leu363fs Single submitter xanthinuria type II
- p.Met439Thr Single submitter xanthinuria type II ⚠
- p.Met73Thr Single submitter xanthinuria type II ⚠
- p.Met843Val Single submitter xanthinuria type II ⚠
- p.Phe15fs Single submitter xanthinuria type II
- p.Pro21Ser Single submitter xanthinuria type II ⚠
Benign 59
- c.1218+65T>C Multiple submitters
- c.1335+66T>C Multiple submitters
- c.1336-54G>A Multiple submitters
- c.142+105G>A Multiple submitters
- c.143-194T>G Multiple submitters
- c.1798-88C>T Multiple submitters
- c.1961-80C>T Multiple submitters
- c.2039+114T>C Multiple submitters
- c.2039+17C>G Multiple submitters xanthinuria type II
- c.2040-78C>T Multiple submitters
- c.2164+166G>A Multiple submitters
- c.2164+69C>T Multiple submitters
- c.2165-212G>A Multiple submitters
- c.2271-44C>T Multiple submitters
- c.232+62G>A Multiple submitters
- c.232+70C>T Multiple submitters
- c.233-185C>A Multiple submitters
- c.233-46C>A Multiple submitters
- c.233-47G>A Multiple submitters
- c.942-46T>C Multiple submitters
- c.-24G>A Multiple submitters
- c.-5G>A Multiple submitters
- c.*17_*18insCATTA Multiple submitters
- p.Ala103= Multiple submitters xanthinuria type II
- p.Glu664= Multiple submitters xanthinuria type II
- p.His225Arg Multiple submitters xanthinuria type II
- p.His703Asn Multiple submitters xanthinuria type II
- p.Leu575Pro Multiple submitters xanthinuria type II
- p.Pro388= Multiple submitters xanthinuria type II
- p.Ser120Asn Multiple submitters xanthinuria type II
- p.Ser184Gly Multiple submitters xanthinuria type II
- p.Thr170Ile Multiple submitters xanthinuria type II
- p.Val358Met Multiple submitters xanthinuria type II
- p.Val867Ala Multiple submitters xanthinuria type II
- c.1019-183G>A Single submitter
- c.1336-138C>T Single submitter
- c.1336-183C>T Single submitter
- c.143-21_143-13del Single submitter xanthinuria type II
- c.143-270G>A Single submitter
- c.1798-159T>A Single submitter
- c.1960+141dup Single submitter
- c.1961-220C>G Single submitter
- c.1961-243A>G Single submitter
- c.2164+213C>T Single submitter
- c.2164+284T>C Single submitter
- c.2270+17C>T Single submitter xanthinuria type II
- c.232+146C>A Single submitter
- c.232+268G>A Single submitter
- c.2409+245G>A Single submitter
- c.2410-115A>C Single submitter
- c.2410-238A>G Single submitter
- c.2514+18del Single submitter xanthinuria type II
- c.2514+199dup Single submitter
- c.299+233C>G Single submitter
- c.299+94G>A Single submitter
- c.300-297G>T Single submitter
- c.941+20G>A Single submitter xanthinuria type II
- c.942-249G>A Single submitter
- p.Ser530Leu Single submitter xanthinuria type II
Benign/Likely benign 18
- c.142+11C>A Multiple submitters xanthinuria type II
- c.142+16_142+19dup Multiple submitters xanthinuria type II
- c.142+20T>C Multiple submitters xanthinuria type II
- c.1798-19C>T Multiple submitters xanthinuria type II
- p.Ala327= Multiple submitters xanthinuria type II
- p.Ala5= Multiple submitters xanthinuria type II
- p.Ala513= Multiple submitters xanthinuria type II
- p.Arg159= Multiple submitters xanthinuria type II
- p.Arg489Cys Multiple submitters xanthinuria type II
- p.Asn437Asp Multiple submitters xanthinuria type II
- p.Gln354= Multiple submitters xanthinuria type II
- p.Glu759Gly Multiple submitters xanthinuria type II
- p.Leu475= Multiple submitters xanthinuria type II
- p.Leu636= Multiple submitters xanthinuria type II
- p.Lys442= Multiple submitters xanthinuria type II
- p.Ser22Arg Multiple submitters xanthinuria type II
- p.Thr121= Multiple submitters xanthinuria type II
- p.Val867Met Multiple submitters xanthinuria type II
Likely benign 119
- c.1960+13C>T Multiple submitters xanthinuria type II
- c.1961-5A>T Multiple submitters xanthinuria type II
- c.2165-9C>T Multiple submitters xanthinuria type II
- c.2270+18G>A Multiple submitters xanthinuria type II
- c.941+23del Multiple submitters xanthinuria type II
- c.-43G>T Multiple submitters
- p.Ala118= Multiple submitters xanthinuria type II
- p.Ala255= Multiple submitters xanthinuria type II
- p.Ala281Val Multiple submitters xanthinuria type II
- p.Ala297= Multiple submitters xanthinuria type II
- p.Arg223Trp Multiple submitters xanthinuria type II ⚠
- p.Leu694= Multiple submitters xanthinuria type II
- p.Pro725= Multiple submitters xanthinuria type II
- p.Ser310= Multiple submitters xanthinuria type II
- p.Thr149= Multiple submitters xanthinuria type II
- p.Thr474= Multiple submitters xanthinuria type II
- p.Tyr242= Multiple submitters xanthinuria type II
- p.Val394= Multiple submitters xanthinuria type II
- c.1018+11del Single submitter xanthinuria type II
- c.1018+17A>G Single submitter xanthinuria type II
- c.1018+20C>T Single submitter xanthinuria type II
- c.1018+9A>T Single submitter xanthinuria type II
- c.1019-15C>T Single submitter xanthinuria type II
- c.1219-15A>G Single submitter xanthinuria type II
- c.1219-20A>G Single submitter xanthinuria type II
- c.1219-4G>A Single submitter xanthinuria type II
- c.1219-5C>T Single submitter xanthinuria type II
- c.1335+16T>C Single submitter xanthinuria type II
- c.1335+18C>T Single submitter xanthinuria type II
- c.1335+19G>A Single submitter xanthinuria type II
- c.1336-10C>G Single submitter xanthinuria type II
- c.1336-124T>C Single submitter
- c.1336-5_1336-4insAA Single submitter xanthinuria type II
- c.142+12G>A Single submitter xanthinuria type II
- c.1797+20C>T Single submitter xanthinuria type II
- c.1798-30G>C Single submitter
- c.1798-6G>A Single submitter xanthinuria type II
- c.1961-13C>A Single submitter xanthinuria type II
- c.1961-226A>G Single submitter
- c.1961-9G>C Single submitter xanthinuria type II
- c.2039+18G>A Single submitter xanthinuria type II
- c.2039+18G>T Single submitter xanthinuria type II
- c.2039+61G>A Single submitter
- c.2040-16C>G Single submitter xanthinuria type II
- c.2040-4C>T Single submitter xanthinuria type II
- c.233-12G>T Single submitter xanthinuria type II
- c.233-20T>G Single submitter xanthinuria type II
- c.233-8C>A Single submitter xanthinuria type II
- c.2409+161C>A Single submitter
- c.2409+19T>C Single submitter xanthinuria type II
- c.2410-225C>T Single submitter
- c.300-13G>A Single submitter xanthinuria type II
- c.941+16G>C Single submitter xanthinuria type II
- c.941+9G>C Single submitter xanthinuria type II
- c.942-13C>G Single submitter xanthinuria type II
- c.942-68A>G Single submitter
- p.Ala411= Single submitter xanthinuria type II
- p.Ala535= Single submitter xanthinuria type II
- p.Ala561Thr Single submitter xanthinuria type II
- p.Ala57= Single submitter xanthinuria type II
- p.Arg144= Single submitter xanthinuria type II
- p.Arg144His Single submitter xanthinuria type II
- p.Arg308= Single submitter xanthinuria type II
- p.Arg36His Single submitter
- p.Arg419= Single submitter xanthinuria type II
- p.Arg45= Single submitter xanthinuria type II
- p.Arg489His Single submitter
- p.Asn189= Single submitter xanthinuria type II
- p.Asn437= Single submitter xanthinuria type II
- p.Asn84= Single submitter xanthinuria type II
- p.Asn871= Single submitter xanthinuria type II
- p.Asp324= Single submitter xanthinuria type II
- p.Asp642= Single submitter xanthinuria type II
- p.Gln564= Single submitter xanthinuria type II
- p.Gln738= Single submitter xanthinuria type II
- p.Gly231= Single submitter xanthinuria type II
- p.Gly273= Single submitter xanthinuria type II
- p.Gly340= Single submitter xanthinuria type II
- p.Gly494= Single submitter
- p.Gly580= Single submitter xanthinuria type II
- p.Gly806= Single submitter xanthinuria type II
- p.Gly874= Single submitter xanthinuria type II
- p.His152= Single submitter xanthinuria type II
- p.His432= Single submitter xanthinuria type II
- p.His54= Single submitter xanthinuria type II
- p.His703= Single submitter xanthinuria type II
- p.His847= Single submitter xanthinuria type II
- p.His883= Single submitter xanthinuria type II
- p.Ile326= Single submitter xanthinuria type II
- p.Ile485= Single submitter xanthinuria type II
- p.Ile641= Single submitter xanthinuria type II
- p.Leu12= Single submitter xanthinuria type II
- p.Leu237= Single submitter xanthinuria type II
- p.Leu284= Single submitter xanthinuria type II
- p.Leu575= Single submitter xanthinuria type II
- p.Leu65= Single submitter xanthinuria type II
- p.Leu731= Single submitter xanthinuria type II
- p.Lys651= Single submitter xanthinuria type II
- p.Phe68= Single submitter xanthinuria type II
- p.Pro171= Single submitter xanthinuria type II
- p.Pro201= Single submitter xanthinuria type II
- p.Pro212= Single submitter xanthinuria type II
- p.Pro521= Single submitter xanthinuria type II
- p.Ser154= Single submitter xanthinuria type II
- p.Ser18= Single submitter xanthinuria type II
- p.Ser246= Single submitter xanthinuria type II
- p.Ser376= Single submitter xanthinuria type II
- p.Ser530= Single submitter xanthinuria type II
- p.Ser545= Single submitter
- p.Ser615= Single submitter xanthinuria type II
- p.Thr229= Single submitter xanthinuria type II
- p.Thr505= Single submitter xanthinuria type II
- p.Thr744= Single submitter xanthinuria type II
- p.Tyr471= Single submitter xanthinuria type II
- p.Val209= Single submitter xanthinuria type II
- p.Val465= Single submitter xanthinuria type II
- p.Val519= Single submitter xanthinuria type II
- p.Val560= Single submitter xanthinuria type II
- c.1219-4G>T No assertion criteria MOCOS-related disorder
Uncertain significance 274
- c.2515-1G>A Multiple submitters xanthinuria type II
- p.Ala123Thr Multiple submitters xanthinuria type II
- p.Ala16Val Multiple submitters xanthinuria type II ⚠
- p.Ala252Thr Multiple submitters xanthinuria type II ⚠
- p.Ala274Thr Multiple submitters xanthinuria type II ⚠
- p.Ala297Glu Multiple submitters xanthinuria type II ⚠
- p.Ala327Thr Multiple submitters xanthinuria type II
- p.Ala327Val Multiple submitters xanthinuria type II ⚠
- p.Ala369Asp Multiple submitters xanthinuria type II ⚠
- p.Ala411Val Multiple submitters xanthinuria type II ⚠
- p.Ala5Val Multiple submitters xanthinuria type II ⚠
- p.Arg10Trp Multiple submitters xanthinuria type II ⚠
- p.Arg173Gly Multiple submitters xanthinuria type II ⚠
- p.Arg223Gln Multiple submitters xanthinuria type II ⚠
- p.Arg280Cys Multiple submitters xanthinuria type II ⚠
- p.Arg280His Multiple submitters xanthinuria type II ⚠
- p.Arg337Cys Multiple submitters xanthinuria type II ⚠
- p.Arg337His Multiple submitters xanthinuria type II ⚠
- p.Arg373Trp Multiple submitters xanthinuria type II ⚠
- p.Arg431Lys Multiple submitters xanthinuria type II ⚠
- p.Arg45His Multiple submitters xanthinuria type II ⚠
- p.Arg614Trp Multiple submitters xanthinuria type II ⚠
- p.Arg644Trp Multiple submitters xanthinuria type II ⚠
- p.Arg668Gln Multiple submitters xanthinuria type II ⚠
- p.Arg668Trp Multiple submitters xanthinuria type II ⚠
- p.Arg672Cys Multiple submitters xanthinuria type II ⚠
- p.Arg752Trp Multiple submitters xanthinuria type II ⚠
- p.Arg776His Multiple submitters xanthinuria type II ⚠
- p.Asn367Ser Multiple submitters xanthinuria type II ⚠
- p.Asn453Ser Multiple submitters xanthinuria type II ⚠
- p.Asn543Lys Multiple submitters xanthinuria type II ⚠
- p.Asn607Ser Multiple submitters xanthinuria type II ⚠
- p.Asn714Lys Multiple submitters xanthinuria type II ⚠
- p.Asp150Asn Multiple submitters xanthinuria type II
- p.Cys558Tyr Multiple submitters xanthinuria type II ⚠
- p.Gln803Glu Multiple submitters xanthinuria type II ⚠
- p.Gln83Glu Multiple submitters xanthinuria type II ⚠
- p.Glu129Ala Multiple submitters xanthinuria type II
- p.Glu181Lys Multiple submitters xanthinuria type II ⚠
- p.Glu218Val Multiple submitters xanthinuria type II ⚠
- p.Glu37Gly Multiple submitters xanthinuria type II ⚠
- p.Glu438Gln Multiple submitters xanthinuria type II ⚠
- p.Glu656Asp Multiple submitters xanthinuria type II ⚠
- p.Glu870Gln Multiple submitters xanthinuria type II ⚠
- p.Gly267Arg Multiple submitters xanthinuria type II ⚠
- p.Gly33Asp Multiple submitters ⚠
- p.Gly3Ala Multiple submitters xanthinuria type II ⚠
- p.Gly3Arg Multiple submitters xanthinuria type II ⚠
- p.Gly451Arg Multiple submitters xanthinuria type II ⚠
- p.Gly506Arg Multiple submitters xanthinuria type II ⚠
- p.Gly573Glu Multiple submitters xanthinuria type II ⚠
- p.Gly577Glu Multiple submitters xanthinuria type II ⚠
- p.Gly798Ser Multiple submitters xanthinuria type II ⚠
- p.His582Gln Multiple submitters xanthinuria type II ⚠
- p.Ile401Thr Multiple submitters xanthinuria type II ⚠
- p.Ile435Met Multiple submitters xanthinuria type II ⚠
- p.Ile658Thr Multiple submitters xanthinuria type II ⚠
- p.Ile797Thr Multiple submitters ⚠
- p.Leu102Gln Multiple submitters xanthinuria type II ⚠
- p.Leu456Pro Multiple submitters xanthinuria type II ⚠
- p.Lys264Glu Multiple submitters xanthinuria type II ⚠
- p.Met617Val Multiple submitters xanthinuria type II ⚠
- p.Met728Arg Multiple submitters xanthinuria type II ⚠
- p.Met843Thr Multiple submitters xanthinuria type II ⚠
- p.Phe304Leu Multiple submitters xanthinuria type II ⚠
- p.Pro138Leu Multiple submitters xanthinuria type II ⚠
- p.Pro171Leu Multiple submitters xanthinuria type II ⚠
- p.Pro226Leu Multiple submitters ⚠
- p.Pro499Leu Multiple submitters xanthinuria type II ⚠
- p.Ser246Pro Multiple submitters xanthinuria type II ⚠
- p.Ser310Leu Multiple submitters xanthinuria type II ⚠
- p.Ser539Phe Multiple submitters xanthinuria type II ⚠
- p.Ser674Asn Multiple submitters xanthinuria type II ⚠
- p.Ser757Asn Multiple submitters xanthinuria type II ⚠
- p.Thr113Ala Multiple submitters xanthinuria type II ⚠
- p.Thr121Met Multiple submitters xanthinuria type II ⚠
- p.Thr14Ser Multiple submitters xanthinuria type II ⚠
- p.Thr229Met Multiple submitters xanthinuria type II ⚠
- p.Thr474Met Multiple submitters xanthinuria type II ⚠
- p.Thr93Ala Multiple submitters xanthinuria type II ⚠
- p.Tyr365His Multiple submitters xanthinuria type II ⚠
- p.Val161Met Multiple submitters xanthinuria type II ⚠
- p.Val243Met Multiple submitters xanthinuria type II ⚠
- p.Val97Leu Multiple submitters xanthinuria type II
- c.1219-3C>T Single submitter xanthinuria type II
- c.1798-3T>C Single submitter xanthinuria type II
- c.2409+5G>T Single submitter xanthinuria type II
- c.2410-3C>T Single submitter xanthinuria type II
- c.2514+6C>T Single submitter xanthinuria type II
- c.299+5G>A Single submitter xanthinuria type II
- c.300-10C>T Single submitter xanthinuria type II
- p.Ala103Val Single submitter xanthinuria type II ⚠
- p.Ala16Ser Single submitter ⚠
- p.Ala202Gly Single submitter xanthinuria type II ⚠
- p.Ala239Thr Single submitter ⚠
- p.Ala282Val Single submitter ⚠
- p.Ala295Asp Single submitter xanthinuria type II ⚠
- p.Ala2Thr Single submitter xanthinuria type II ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala300Val Single submitter xanthinuria type II ⚠
- p.Ala369Val Single submitter ⚠
- p.Ala446Ser Single submitter ⚠
- p.Ala501Val Single submitter xanthinuria type II ⚠
- p.Ala535Ser Single submitter ⚠
- p.Ala550Ser Single submitter ⚠
- p.Ala55Thr Single submitter ⚠
- p.Ala572Val Single submitter xanthinuria type II ⚠
- p.Ala678Val Single submitter xanthinuria type II ⚠
- p.Ala729Val Single submitter xanthinuria type II ⚠
- p.Arg183_Ser184delinsGlyGly Single submitter xanthinuria type II
- p.Arg183Cys Single submitter xanthinuria type II ⚠
- p.Arg19Trp Single submitter xanthinuria type II ⚠
- p.Arg373= Single submitter xanthinuria type II
- p.Arg45Cys Single submitter xanthinuria type II ⚠
- p.Arg466Thr Single submitter ⚠
- p.Arg483= Single submitter xanthinuria type II
- p.Arg614Gln Single submitter xanthinuria type II ⚠
- p.Arg633Trp Single submitter xanthinuria type II ⚠
- p.Arg700His Single submitter ⚠
- p.Arg774Cys Single submitter xanthinuria type II ⚠
- p.Arg774Ser Single submitter ⚠
- p.Arg801Cys Single submitter ⚠
- p.Arg810Ser Single submitter xanthinuria type II ⚠
- p.Arg835Cys Single submitter xanthinuria type II ⚠
- p.Arg835His Single submitter xanthinuria type II ⚠
- p.Arg98Cys Single submitter ⚠
- p.Asn160Lys Single submitter xanthinuria type II ⚠
- p.Asn166Asp Single submitter ⚠
- p.Asn205Lys Single submitter ⚠
- p.Asn549Lys Single submitter xanthinuria type II ⚠
- p.Asn622Ser Single submitter xanthinuria type II ⚠
- p.Asn710Asp Single submitter xanthinuria type II ⚠
- p.Asn755Ser Single submitter ⚠
- p.Asn778Lys Single submitter ⚠
- p.Asn782Ser Single submitter ⚠
- p.Asp191His Single submitter ⚠
- p.Asp191Val Single submitter xanthinuria type II ⚠
- p.Asp238Val Single submitter ⚠
- p.Asp256Asn Single submitter xanthinuria type II ⚠
- p.Asp377Gly Single submitter xanthinuria type II ⚠
- p.Asp408Glu Single submitter xanthinuria type II ⚠
- p.Asp455Gly Single submitter xanthinuria type II ⚠
- p.Asp458Gly Single submitter xanthinuria type II ⚠
- p.Asp476Glu Single submitter xanthinuria type II ⚠
- p.Asp495Val Single submitter xanthinuria type II ⚠
- p.Asp504Asn Single submitter xanthinuria type II ⚠
- p.Asp817Tyr Single submitter ⚠
- p.Cys146Ser Single submitter ⚠
- p.Cys429Arg Single submitter xanthinuria type II ⚠
- p.Cys450Ser Single submitter xanthinuria type II ⚠
- p.Cys450Tyr Single submitter xanthinuria type II ⚠
- p.Gln136His Single submitter xanthinuria type II ⚠
- p.Gln354Arg Single submitter xanthinuria type II ⚠
- p.Gln386Arg Single submitter
- p.Gln707fs Single submitter
- p.Gln812His Single submitter ⚠
- p.Gln818Arg Single submitter xanthinuria type II
- p.Gln825His Single submitter ⚠
- p.Glu631Asp Single submitter xanthinuria type II ⚠
- p.Glu74Gln Single submitter xanthinuria type II ⚠
- p.Glu764Gln Single submitter ⚠
- p.Glu764Gly Single submitter ⚠
- p.Glu790Asp Single submitter ⚠
- p.Gly17Cys Single submitter xanthinuria type II ⚠
- p.Gly231Glu Single submitter xanthinuria type II ⚠
- p.Gly31Arg Single submitter ⚠
- p.Gly31Cys Single submitter xanthinuria type II ⚠
- p.Gly33Ala Single submitter xanthinuria type II ⚠
- p.Gly368Glu Single submitter xanthinuria type II ⚠
- p.Gly387Asp Single submitter ⚠
- p.Gly48Arg Single submitter xanthinuria type II ⚠
- p.Gly509Glu Single submitter ⚠
- p.Gly609Glu Single submitter ⚠
- p.Gly687Glu Single submitter
- p.Gly720Glu Single submitter xanthinuria type II ⚠
- p.Gly798Ala Single submitter ⚠
- p.Gly806Arg Single submitter xanthinuria type II ⚠
- p.Gly821Val Single submitter ⚠
- p.His196Arg Single submitter xanthinuria type II ⚠
- p.His502Tyr Single submitter ⚠
- p.His719Tyr Single submitter xanthinuria type II ⚠
- p.His883Arg Single submitter ⚠
- p.His883Gln Single submitter xanthinuria type II ⚠
- p.Ile374Thr Single submitter xanthinuria type II ⚠
- p.Ile389Val Single submitter xanthinuria type II
- p.Ile457Thr Single submitter ⚠
- p.Ile467Met Single submitter xanthinuria type II ⚠
- p.Ile520Thr Single submitter xanthinuria type II ⚠
- p.Ile780Thr Single submitter xanthinuria type II ⚠
- p.Leu12Met Single submitter xanthinuria type II ⚠
- p.Leu148Phe Single submitter xanthinuria type II ⚠
- p.Leu413Phe Single submitter xanthinuria type II ⚠
- p.Leu456Val Single submitter xanthinuria type II ⚠
- p.Leu529Pro Single submitter xanthinuria type II ⚠
- p.Leu587Phe Single submitter ⚠
- p.Leu731Phe Single submitter ⚠
- p.Leu731Val Single submitter xanthinuria type II ⚠
- p.Leu754Val Single submitter xanthinuria type II ⚠
- p.Leu773Phe Single submitter ⚠
- p.Lys220Met Single submitter ⚠
- p.Lys264Asn Single submitter xanthinuria type II ⚠
- p.Lys706Arg Single submitter xanthinuria type II ⚠
- p.Lys838Glu Single submitter ⚠
- p.Met163Val Single submitter xanthinuria type II ⚠
- p.Met439Leu Single submitter ⚠
- p.Met454Ile Single submitter ⚠
- p.Met472Leu Single submitter xanthinuria type II ⚠
- p.Met524Thr Single submitter xanthinuria type II ⚠
- p.Met617Thr Single submitter xanthinuria type II ⚠
- p.Met813Val Single submitter ⚠
- p.Met846Ile Single submitter xanthinuria type II ⚠
- p.Phe697Val Single submitter ⚠
- p.Phe775Ser Single submitter ⚠
- p.Pro132Ala Single submitter xanthinuria type II ⚠
- p.Pro132Leu Single submitter ⚠
- p.Pro247Ala Single submitter xanthinuria type II ⚠
- p.Pro283Ser Single submitter ⚠
- p.Pro511Gln Single submitter xanthinuria type II ⚠
- p.Pro555Arg Single submitter ⚠
- p.Pro555Thr Single submitter xanthinuria type II ⚠
- p.Pro807Thr Single submitter xanthinuria type II ⚠
- p.Pro80Leu Single submitter xanthinuria type II
- p.Pro866Ser Single submitter ⚠
- p.Pro878Leu Single submitter ⚠
- p.Ser143Asn Single submitter xanthinuria type II ⚠
- p.Ser241Phe Single submitter xanthinuria type II ⚠
- p.Ser244Asn Single submitter xanthinuria type II ⚠
- p.Ser244Ile Single submitter xanthinuria type II
- p.Ser246Leu Single submitter xanthinuria type II ⚠
- p.Ser261= Single submitter xanthinuria type II
- p.Ser261Phe Single submitter ⚠
- p.Ser436Asn Single submitter ⚠
- p.Ser473Leu Single submitter xanthinuria type II ⚠
- p.Ser615Arg Single submitter xanthinuria type II ⚠
- p.Ser682Cys Single submitter xanthinuria type II ⚠
- p.Ser70Gly Single submitter xanthinuria type II ⚠
- p.Ser732Phe Single submitter xanthinuria type II ⚠
- p.Ser746Asn Single submitter xanthinuria type II ⚠
- p.Ser834Arg Single submitter xanthinuria type II ⚠
- p.Ser849Leu Single submitter xanthinuria type II ⚠
- p.Thr108Asn Single submitter ⚠
- p.Thr113Pro Single submitter ⚠
- p.Thr121Ser Single submitter xanthinuria type II ⚠
- p.Thr288Asn Single submitter xanthinuria type II ⚠
- p.Thr294Ile Single submitter xanthinuria type II ⚠
- p.Thr462Ile Single submitter xanthinuria type II
- p.Thr488Ser Single submitter xanthinuria type II ⚠
- p.Thr508Ser Single submitter ⚠
- p.Thr585Ser Single submitter xanthinuria type II ⚠
- p.Thr76Ile Single submitter ⚠
- p.Trp693Leu Single submitter ⚠
- p.Tyr112His Single submitter ⚠
- p.Tyr211Ter Single submitter primary hyperoxaluria
- p.Tyr242Ser Single submitter xanthinuria type II ⚠
- p.Tyr263Cys Single submitter xanthinuria type II ⚠
- p.Tyr30Cys Single submitter xanthinuria type II ⚠
- p.Tyr355His Single submitter xanthinuria type II ⚠
- p.Tyr471His Single submitter ⚠
- p.Tyr77= Single submitter xanthinuria type II
- p.Tyr99Cys Single submitter xanthinuria type II ⚠
- p.Val134Ala Single submitter ⚠
- p.Val156= Single submitter xanthinuria type II
- p.Val227delinsGlyLysTrpPheValLeuGlyLysTrpPhePro Single submitter xanthinuria type II
- p.Val227Met Single submitter xanthinuria type II ⚠
- p.Val277Ile Single submitter xanthinuria type II ⚠
- p.Val358Leu Single submitter xanthinuria type II ⚠
- p.Val372Met Single submitter xanthinuria type II ⚠
- p.Val385Phe Single submitter ⚠
- p.Val449Phe Single submitter xanthinuria type II ⚠
- p.Val50Leu Single submitter xanthinuria type II
- p.Val553Ala Single submitter ⚠
- p.Val560Ile Single submitter ⚠
- p.Val605Ala Single submitter xanthinuria type II ⚠
- p.Val839Gly Single submitter xanthinuria type II ⚠