DBR1 — 246 ClinVar variants
All ClinVar germline DBR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →
1 Pathogenic · 1 Conflicting · 16 Benign · 93 Likely benign · 135 Uncertain significance
Full DBR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 126
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.
-
DBR1 p.Thr78Met
Conflicting
Single submitter
encephalitis, acute, infection (viral)-induced, susceptibility to, 11
Predictors lean, ClinVar uncertain 80
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DBR1 p.Ala233Thr
Uncertain significance
Multiple submitters
xerosis and growth failure with immune and pulmonary dysfunction syndrome
-
DBR1 p.Ala443Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Ala458Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Glu434Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Gly494Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Ile283Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Leu505Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Lys160Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Met324Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Met475Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Met61Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Pro28Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Pro472Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Tyr278His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Val441Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Ala313Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Ala346Gly Uncertain significance Single submitter
- DBR1 p.Ala372Thr Uncertain significance Single submitter
-
DBR1 p.Ala420Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Ala534Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Ala534Thr Uncertain significance Single submitter
- DBR1 p.Ala544Gly Uncertain significance Single submitter
-
DBR1 p.Arg154Lys
Uncertain significance
Single submitter
encephalitis, acute, infection (viral)-induced, susceptibility to, 11
- DBR1 p.Arg301His Uncertain significance Single submitter
-
DBR1 p.Arg50Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Asn405His Uncertain significance Single submitter
-
DBR1 p.Asn415Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Asp262Tyr Uncertain significance Single submitter
- DBR1 p.Asp427Gly Uncertain significance Single submitter
- DBR1 p.Asp456Gly Uncertain significance Single submitter
-
DBR1 p.Cys347Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Cys371Phe Uncertain significance Single submitter
-
DBR1 p.Cys9Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Gln166Glu Uncertain significance Single submitter
-
DBR1 p.Gln198Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Gln265Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Gln411Glu Uncertain significance Single submitter
-
DBR1 p.Glu284Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Glu326Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Gly135Asp Uncertain significance Single submitter
- DBR1 p.Gly446Val Uncertain significance Single submitter
- DBR1 p.Gly473Ser Uncertain significance Single submitter
-
DBR1 p.Gly473Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Gly502Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Gly83Arg Uncertain significance Single submitter
- DBR1 p.His130Tyr Uncertain significance Single submitter
-
DBR1 p.His260Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.His312Arg Uncertain significance Single submitter
- DBR1 p.His517Tyr Uncertain significance Single submitter
-
DBR1 p.Ile120Thr
Uncertain significance
Single submitter
encephalitis, acute, infection (viral)-induced, susceptibility to, 11
-
DBR1 p.Ile126Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Ile168Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Ile424Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Ile81Thr Uncertain significance Single submitter
-
DBR1 p.Leu13Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Leu254Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Leu302Gln Uncertain significance Single submitter
-
DBR1 p.Lys160Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Lys57Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Met475Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Met52Thr Uncertain significance Single submitter
-
DBR1 p.Phe195Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Pro454Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Pro454Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Pro55Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Ser224Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Ser455Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Thr249Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Thr506Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Tyr106His Uncertain significance Single submitter
-
DBR1 p.Tyr132Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Tyr17Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Tyr278Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Tyr396Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Tyr414His Uncertain significance Single submitter
-
DBR1 p.Tyr67Cys
Uncertain significance
Single submitter
encephalitis, acute, infection (viral)-induced, susceptibility to, 11
-
DBR1 p.Val327Leu
Uncertain significance
Single submitter
DBR1-related disorder
-
DBR1 p.Val477Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Val497Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Val54Leu Uncertain significance Single submitter
Predictors split 45
The independent predictors disagree with each other — read with care.
-
DBR1 p.Arg197Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Arg527Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DBR1 p.Glu428Gln Benign Multiple submitters
-
DBR1 p.Gly121Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Gly27Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Leu33Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Ser445Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DBR1 p.Thr292Met Uncertain significance Multiple submitters
-
DBR1 p.Thr344Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Tyr348Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBR1 p.Ala319Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Arg116Gln Benign Single submitter
- DBR1 p.Arg25Trp Likely benign Single submitter
-
DBR1 p.Arg301Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Arg301Leu Uncertain significance Single submitter
-
DBR1 p.Arg528Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Arg66Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Asn103Asp
Uncertain significance
Single submitter
xerosis and growth failure with immune and pulmonary dysfunction syndrome
-
DBR1 p.Asn155Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Asn185Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Asn297Ile Uncertain significance Single submitter
-
DBR1 p.Asn332Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Asn364Ser Benign Single submitter
- DBR1 p.Asp349Gly Uncertain significance Single submitter
-
DBR1 p.Glu329Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Glu428Lys Uncertain significance Single submitter
- DBR1 p.Glu518Lys Uncertain significance Single submitter
-
DBR1 p.Gly27Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Gly446Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.His130Arg Uncertain significance Single submitter
-
DBR1 p.His60Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Ile156Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Ile168Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Leu252Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Lys250Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBR1 p.Pro56Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Ser194Cys Uncertain significance Single submitter
- DBR1 p.Ser407Pro Uncertain significance Single submitter
-
DBR1 p.Ser423Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- DBR1 p.Thr19Ala Likely benign Single submitter
- DBR1 p.Thr204Ala Uncertain significance Single submitter
- DBR1 p.Thr449Ile Uncertain significance Single submitter
- DBR1 p.Thr482Met Uncertain significance Single submitter
- DBR1 p.Tyr65Cys Uncertain significance Single submitter
-
DBR1 p.Val76Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All DBR1 variants
Pathogenic 1
- p.Arg197fs Single submitter encephalitis, acute, infection (viral)-induced, susceptibility to, 11
Conflicting classifications of pathogenicity 1
- p.Thr78Met Single submitter encephalitis, acute, infection (viral)-induced, susceptibility to, 11 ⚠
Benign 16
- p.Asp541= Multiple submitters
- p.Glu428Gln Multiple submitters ⚠
- p.Glu498= Multiple submitters
- p.Thr367= Multiple submitters
- p.Val43= Multiple submitters
- c.403+155_403+157del Single submitter
- c.403+156_403+157del Single submitter
- c.715-4C>T Single submitter
- c.715-52T>C Single submitter
- c.796-41C>A Single submitter
- c.-107C>A Single submitter
- c.*36T>C Single submitter
- p.Arg116Gln Single submitter ⚠
- p.Asn364Ser Single submitter ⚠
- p.Gly446Asp Single submitter
- p.Leu79= Single submitter
Likely benign 93
- p.Asp175= Multiple submitters
- p.Thr78= Multiple submitters
- p.Val31= Multiple submitters
- c.197+10C>T Single submitter
- c.197+11G>T Single submitter
- c.197+14C>G Single submitter
- c.197+20C>G Single submitter
- c.198-12C>T Single submitter
- c.198-14C>G Single submitter
- c.198-17_198-16del Single submitter
- c.322+13G>A Single submitter
- c.322+17G>A Single submitter
- c.323-14_323-9del Single submitter
- c.323-20T>C Single submitter
- c.323-9A>G Single submitter
- c.489+13C>T Single submitter
- c.489+14G>A Single submitter
- c.489+14G>T Single submitter
- c.489+19A>G Single submitter
- c.490-20_490-17del Single submitter
- c.490-26_490-19del Single submitter
- c.490-30TTCT[2] Single submitter
- c.714+13A>G Single submitter
- c.795+10G>C Single submitter
- c.795+14A>C Single submitter
- c.795+8G>T Single submitter
- c.941+13T>A Single submitter
- c.941+17_941+54del Single submitter
- c.941+8A>C Single submitter
- c.941+8del Single submitter
- c.942-13T>C Single submitter
- c.942-5T>G Single submitter
- p.Ala101= Single submitter
- p.Ala21= Single submitter
- p.Ala232= Single submitter
- p.Ala42= Single submitter
- p.Arg25Trp Single submitter ⚠
- p.Arg261= Single submitter
- p.Arg50= Single submitter
- p.Arg528= Single submitter
- p.Asp467= Single submitter
- p.Asp484Gly Single submitter Inborn genetic diseases
- p.Asp488= Single submitter
- p.Asp504= Single submitter
- p.Asp542_Ala543insAsp Single submitter
- p.Gln411= Single submitter
- p.Glu434= Single submitter
- p.Glu490= Single submitter
- p.Glu93= Single submitter
- p.Gly310= Single submitter
- p.Gly491= Single submitter
- p.His130= Single submitter
- p.His152= Single submitter
- p.His260= Single submitter
- p.His271= Single submitter
- p.His333= Single submitter
- p.His361= Single submitter
- p.Ile120= Single submitter
- p.Ile126= Single submitter
- p.Ile283= Single submitter
- p.Leu20= Single submitter
- p.Leu267= Single submitter
- p.Leu302= Single submitter
- p.Leu35= Single submitter
- p.Leu49= Single submitter
- p.Leu510= Single submitter
- p.Leu513Val Single submitter
- p.Phe127= Single submitter
- p.Phe341= Single submitter
- p.Phe370= Single submitter
- p.Pro273= Single submitter
- p.Pro426= Single submitter
- p.Pro95= Single submitter
- p.Ser144= Single submitter
- p.Ser211= Single submitter
- p.Ser404= Single submitter
- p.Ser451= Single submitter
- p.Ser451Leu Single submitter
- p.Ser464= Single submitter
- p.Ser69= Single submitter
- p.Thr19Ala Single submitter ⚠
- p.Thr204= Single submitter
- p.Thr292= Single submitter
- p.Thr482= Single submitter
- p.Thr496Ala Single submitter Inborn genetic diseases
- p.Tyr142= Single submitter
- p.Tyr17= Single submitter
- p.Tyr221= Single submitter
- p.Tyr396= Single submitter
- p.Tyr533= Single submitter
- p.Tyr67= Single submitter
- p.Val158= Single submitter
- p.Val402= Single submitter
Uncertain significance 135
- c.489+5G>A Multiple submitters encephalitis, acute, infection (viral)-induced, susceptibility to, 11
- p.Ala233Thr Multiple submitters xerosis and growth failure with immune and pulmonary dysfunction syndrome ⚠
- p.Ala443Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala458Asp Multiple submitters Inborn genetic diseases ⚠
- p.Arg197Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg527Ser Multiple submitters Inborn genetic diseases ⚠
- p.Glu434Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly121Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly27Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly494Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ile283Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu33Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu505Ile Multiple submitters Inborn genetic diseases ⚠
- p.Lys160Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met324Lys Multiple submitters Inborn genetic diseases ⚠
- p.Met475Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met61Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro28Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro472Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser445Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr292Met Multiple submitters ⚠
- p.Thr344Ile Multiple submitters Inborn genetic diseases ⚠
- p.Tyr278His Multiple submitters Inborn genetic diseases ⚠
- p.Tyr348Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val441Ile Multiple submitters Inborn genetic diseases ⚠
- c.198-1G>C Single submitter
- c.198-8T>G Single submitter
- c.489+4C>T Single submitter
- c.-6G>A Single submitter
- p.Ala101fs Single submitter
- p.Ala313Gly Single submitter Inborn genetic diseases ⚠
- p.Ala319Thr Single submitter Inborn genetic diseases ⚠
- p.Ala346Gly Single submitter ⚠
- p.Ala372Thr Single submitter ⚠
- p.Ala420Thr Single submitter Inborn genetic diseases ⚠
- p.Ala534Ser Single submitter Inborn genetic diseases ⚠
- p.Ala534Thr Single submitter ⚠
- p.Ala544Gly Single submitter ⚠
- p.Arg133= Single submitter
- p.Arg154Lys Single submitter encephalitis, acute, infection (viral)-induced, susceptibility to, 11 ⚠
- p.Arg197Ter Single submitter encephalitis, acute, infection (viral)-induced, susceptibility to, 11
- p.Arg301Cys Single submitter Inborn genetic diseases ⚠
- p.Arg301His Single submitter ⚠
- p.Arg301Leu Single submitter ⚠
- p.Arg50Gly Single submitter Inborn genetic diseases ⚠
- p.Arg528Gly Single submitter Inborn genetic diseases ⚠
- p.Arg66Gly Single submitter Inborn genetic diseases ⚠
- p.Asn103Asp Single submitter xerosis and growth failure with immune and pulmonary dysfunction syndrome ⚠
- p.Asn155Thr Single submitter Inborn genetic diseases ⚠
- p.Asn185Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn297Ile Single submitter ⚠
- p.Asn332Asp Single submitter Inborn genetic diseases ⚠
- p.Asn405His Single submitter ⚠
- p.Asn415Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp262Tyr Single submitter ⚠
- p.Asp349Gly Single submitter ⚠
- p.Asp427Gly Single submitter ⚠
- p.Asp456Gly Single submitter ⚠
- p.Asp542del Single submitter
- p.Cys347Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys371Phe Single submitter ⚠
- p.Cys51fs Single submitter
- p.Cys9Trp Single submitter Inborn genetic diseases ⚠
- p.Gln166Glu Single submitter ⚠
- p.Gln198Lys Single submitter Inborn genetic diseases ⚠
- p.Gln265Arg Single submitter Inborn genetic diseases ⚠
- p.Gln411Glu Single submitter ⚠
- p.Gln62Ter Single submitter
- p.Glu24Ter Single submitter
- p.Glu284Lys Single submitter Inborn genetic diseases ⚠
- p.Glu326Gln Single submitter Inborn genetic diseases ⚠
- p.Glu329Gly Single submitter Inborn genetic diseases ⚠
- p.Glu428Lys Single submitter ⚠
- p.Glu518Lys Single submitter ⚠
- p.Gly135Asp Single submitter ⚠
- p.Gly27Asp Single submitter Inborn genetic diseases ⚠
- p.Gly446Cys Single submitter Inborn genetic diseases ⚠
- p.Gly446Val Single submitter ⚠
- p.Gly473Ser Single submitter ⚠
- p.Gly473Val Single submitter Inborn genetic diseases ⚠
- p.Gly502Arg Single submitter Inborn genetic diseases ⚠
- p.Gly83Arg Single submitter ⚠
- p.His130Arg Single submitter ⚠
- p.His130Tyr Single submitter ⚠
- p.His260Arg Single submitter Inborn genetic diseases ⚠
- p.His312Arg Single submitter ⚠
- p.His517Tyr Single submitter ⚠
- p.His60Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile120Thr Single submitter encephalitis, acute, infection (viral)-induced, susceptibility to, 11 ⚠
- p.Ile126Val Single submitter Inborn genetic diseases ⚠
- p.Ile156Thr Single submitter Inborn genetic diseases ⚠
- p.Ile168Thr Single submitter Inborn genetic diseases ⚠
- p.Ile168Val Single submitter Inborn genetic diseases ⚠
- p.Ile424Val Single submitter Inborn genetic diseases ⚠
- p.Ile81Thr Single submitter ⚠
- p.Leu13Pro Single submitter Inborn genetic diseases ⚠
- p.Leu252Ile Single submitter Inborn genetic diseases ⚠
- p.Leu254Val Single submitter Inborn genetic diseases ⚠
- p.Leu286= Single submitter
- p.Leu302Gln Single submitter ⚠
- p.Lys160Glu Single submitter Inborn genetic diseases ⚠
- p.Lys186Ter Single submitter
- p.Lys230fs Single submitter
- p.Lys250Asn Single submitter Inborn genetic diseases ⚠
- p.Lys57Thr Single submitter Inborn genetic diseases ⚠
- p.Met475Val Single submitter Inborn genetic diseases ⚠
- p.Met52Thr Single submitter ⚠
- p.Phe195Leu Single submitter Inborn genetic diseases ⚠
- p.Pro454Leu Single submitter Inborn genetic diseases ⚠
- p.Pro454Ser Single submitter Inborn genetic diseases ⚠
- p.Pro55Leu Single submitter Inborn genetic diseases ⚠
- p.Pro56Thr Single submitter Inborn genetic diseases ⚠
- p.Ser194Cys Single submitter ⚠
- p.Ser224Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser407Pro Single submitter ⚠
- p.Ser423Pro Single submitter Inborn genetic diseases ⚠
- p.Ser455Pro Single submitter Inborn genetic diseases ⚠
- p.Thr204Ala Single submitter ⚠
- p.Thr249Ile Single submitter Inborn genetic diseases ⚠
- p.Thr449Ile Single submitter ⚠
- p.Thr482Met Single submitter ⚠
- p.Thr506Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr106His Single submitter ⚠
- p.Tyr132Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr17Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr278Asp Single submitter Inborn genetic diseases ⚠
- p.Tyr396Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr414His Single submitter ⚠
- p.Tyr65Cys Single submitter ⚠
- p.Tyr67Cys Single submitter encephalitis, acute, infection (viral)-induced, susceptibility to, 11 ⚠
- p.Val327Leu Single submitter DBR1-related disorder ⚠
- p.Val477Ile Single submitter Inborn genetic diseases ⚠
- p.Val497Leu Single submitter Inborn genetic diseases ⚠
- p.Val54Leu Single submitter ⚠
- p.Val76Ala Single submitter Inborn genetic diseases ⚠