SLC20A2 — 443 ClinVar variants
All ClinVar germline SLC20A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 176 flagged for review →
51 Pathogenic · 7 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 18 Conflicting · 33 Benign · 23 Benign/Likely benign · 80 Likely benign · 207 Uncertain significance
Full SLC20A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 176
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
SLC20A2 p.His399Pro
Likely pathogenic
Single submitter
basal ganglia calcification, idiopathic, 1
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SLC20A2 p.Asn178Ser
Conflicting
Single submitter
Inborn genetic diseases
- SLC20A2 p.Gly571Ser Conflicting Single submitter
-
SLC20A2 p.Gly63Ser
Conflicting
Single submitter
basal ganglia calcification, idiopathic, 1
-
SLC20A2 p.Ser298Pro
Conflicting
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Thr595Met
Conflicting
Single submitter
basal ganglia calcification, idiopathic, 1
Predictors lean, ClinVar uncertain 117
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SLC20A2 p.Ala480Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Ala633Ser
Uncertain significance
Multiple submitters
basal ganglia calcification, idiopathic, 1
-
SLC20A2 p.Ala638Thr
Uncertain significance
Multiple submitters
basal ganglia calcification, idiopathic, 1
-
SLC20A2 p.Arg181Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Arg308Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Arg617His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC20A2 p.Asn194Ser Uncertain significance Multiple submitters
- SLC20A2 p.Gly13Val Uncertain significance Multiple submitters
- SLC20A2 p.Gly244Arg Uncertain significance Multiple submitters
-
SLC20A2 p.His502Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Ser324Leu
Uncertain significance
Multiple submitters
basal ganglia calcification, idiopathic, 1
-
SLC20A2 p.Ser339Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Ser408Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Val185Leu
Uncertain significance
Multiple submitters
basal ganglia calcification, idiopathic, 1
-
SLC20A2 p.Val255Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Val507Met
Uncertain significance
Multiple submitters
basal ganglia calcification, idiopathic, 1
- SLC20A2 p.Ala192Val Uncertain significance Single submitter
-
SLC20A2 p.Ala266Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Ala266Thr Uncertain significance Single submitter
-
SLC20A2 p.Ala279Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Ala279Thr Uncertain significance Single submitter
- SLC20A2 p.Ala291Pro Uncertain significance Single submitter
-
SLC20A2 p.Ala2Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Ala303Val Uncertain significance Single submitter
- SLC20A2 p.Ala310Val Uncertain significance Single submitter
- SLC20A2 p.Ala405Val Uncertain significance Single submitter
-
SLC20A2 p.Ala447Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Ala480Ser Uncertain significance Single submitter
- SLC20A2 p.Ala51Val Uncertain significance Single submitter
-
SLC20A2 p.Ala577Thr
Uncertain significance
Single submitter
basal ganglia calcification, idiopathic, 1
-
SLC20A2 p.Arg239Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Arg378Trp Uncertain significance Single submitter
- SLC20A2 p.Arg467Gly Uncertain significance Single submitter
-
SLC20A2 p.Arg611Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Arg611His Uncertain significance Single submitter
- SLC20A2 p.Arg620Gln Uncertain significance Single submitter
- SLC20A2 p.Arg71Cys Uncertain significance Single submitter
- SLC20A2 p.Asn280Asp Uncertain significance Single submitter
- SLC20A2 p.Asp334His Uncertain significance Single submitter
-
SLC20A2 p.Asp364Asn
Uncertain significance
Single submitter
basal ganglia calcification, idiopathic, 1
- SLC20A2 p.Asp364His Uncertain significance Single submitter
-
SLC20A2 p.Asp364Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Cys235Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Gln523Arg Uncertain significance Single submitter
- SLC20A2 p.Glu529Ala Uncertain significance Single submitter
-
SLC20A2 p.Gly131Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Gly13Asp Uncertain significance Single submitter
- SLC20A2 p.Gly179Asp Uncertain significance Single submitter
- SLC20A2 p.Gly25Ala Uncertain significance Single submitter
- SLC20A2 p.Gly25Arg Uncertain significance Single submitter
- SLC20A2 p.Gly320Ser Uncertain significance Single submitter
-
SLC20A2 p.Gly418Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Gly450Asp Uncertain significance Single submitter
-
SLC20A2 p.Gly504Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Gly512Asp Uncertain significance Single submitter
-
SLC20A2 p.Gly512Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Gly560Val Uncertain significance Single submitter
- SLC20A2 p.Gly589Arg Uncertain significance Single submitter
- SLC20A2 p.Gly58Ser Uncertain significance Single submitter
- SLC20A2 p.Gly634Arg Uncertain significance Single submitter
-
SLC20A2 p.Gly634Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Gly73Val
Uncertain significance
Single submitter
basal ganglia calcification, idiopathic, 1
-
SLC20A2 p.His484Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Ile198Val Uncertain significance Single submitter
- SLC20A2 p.Ile215Thr Uncertain significance Single submitter
-
SLC20A2 p.Ile215Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Ile584Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Ile588Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Leu315Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Leu519Val Uncertain significance Single submitter
- SLC20A2 p.Met212Thr Uncertain significance Single submitter
- SLC20A2 p.Met317Leu Uncertain significance Single submitter
-
SLC20A2 p.Met454Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Met645Val
Uncertain significance
Single submitter
basal ganglia calcification, idiopathic, 1
-
SLC20A2 p.Met88Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Phe156Ile Uncertain significance Single submitter
-
SLC20A2 p.Phe156Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Phe162Leu Uncertain significance Single submitter
- SLC20A2 p.Phe33Leu Uncertain significance Single submitter
- SLC20A2 p.Pro151Gln Uncertain significance Single submitter
- SLC20A2 p.Pro236Leu Uncertain significance Single submitter
- SLC20A2 p.Pro307Ser Uncertain significance Single submitter
- SLC20A2 p.Pro367Ser Uncertain significance Single submitter
- SLC20A2 p.Pro463Thr Uncertain significance Single submitter
- SLC20A2 p.Ser146Pro Uncertain significance Single submitter
- SLC20A2 p.Ser268Tyr Uncertain significance Single submitter
- SLC20A2 p.Ser298Leu Uncertain significance Single submitter
- SLC20A2 p.Ser321Phe Uncertain significance Single submitter
- SLC20A2 p.Ser321Tyr Uncertain significance Single submitter
-
SLC20A2 p.Ser499Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Ser593Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Ser59Phe Uncertain significance Single submitter
- SLC20A2 p.Thr132Ala Uncertain significance Single submitter
-
SLC20A2 p.Thr190Ala
Uncertain significance
Single submitter
basal ganglia calcification, idiopathic, 1
-
SLC20A2 p.Thr201Ala
Uncertain significance
Single submitter
basal ganglia calcification, idiopathic, 1
-
SLC20A2 p.Thr288Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Thr294Ile Uncertain significance Single submitter
- SLC20A2 p.Thr301Ile Uncertain significance Single submitter
- SLC20A2 p.Thr35Lys Uncertain significance Single submitter
-
SLC20A2 p.Thr573Met
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Trp213Ser Uncertain significance Single submitter
- SLC20A2 p.Trp231Cys Uncertain significance Single submitter
-
SLC20A2 p.Trp607Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Tyr539Cys Uncertain significance Single submitter
- SLC20A2 p.Val205Met Uncertain significance Single submitter
- SLC20A2 p.Val29Leu Uncertain significance Single submitter
- SLC20A2 p.Val37Met Uncertain significance Single submitter
- SLC20A2 p.Val421Met Uncertain significance Single submitter
-
SLC20A2 p.Val452Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Val507Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Val599Met Uncertain significance Single submitter
-
SLC20A2 p.Val630Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Val640Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Val77Met Uncertain significance Single submitter
-
SLC20A2 p.Arg620Trp
Uncertain significance
No assertion criteria
vascular dementia
-
SLC20A2 p.Gly38Ser
Uncertain significance
No assertion criteria
basal ganglia calcification, idiopathic, childhood-onset
-
SLC20A2 p.Ser59Tyr
Uncertain significance
No assertion criteria
SLC20A2-related disorder
Predictors split 53
The independent predictors disagree with each other — read with care.
- SLC20A2 p.Ala203Val Uncertain significance Multiple submitters
- SLC20A2 p.Arg71His Uncertain significance Multiple submitters
-
SLC20A2 p.Asn384Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Asp356Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Gly131Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Gly207Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Ile19Thr
Uncertain significance
Multiple submitters
basal ganglia calcification, idiopathic, 1
-
SLC20A2 p.Lys349Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Met199Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC20A2 p.Phe168Val Uncertain significance Multiple submitters
- SLC20A2 p.Phe331Leu Uncertain significance Multiple submitters
-
SLC20A2 p.Pro204Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Pro286Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Pro286Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Ser259Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Tyr430Asn
Uncertain significance
Multiple submitters
basal ganglia calcification, idiopathic, 1
-
SLC20A2 p.Val60Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC20A2 p.Ala129Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Ala439Val Uncertain significance Single submitter
-
SLC20A2 p.Ala99Thr
Conflicting
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Arg239Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Arg382Gln Likely pathogenic Single submitter
- SLC20A2 p.Arg427Ser Uncertain significance Single submitter
-
SLC20A2 p.Arg609His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Arg617Cys
Conflicting
Single submitter
basal ganglia calcification, idiopathic, 1
- SLC20A2 p.Asn178Ile Uncertain significance Single submitter
-
SLC20A2 p.Asp174Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Asp431Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Asp431Gly Uncertain significance Single submitter
- SLC20A2 p.Asp431Val Uncertain significance Single submitter
-
SLC20A2 p.Asp615Glu
Likely pathogenic
Single submitter
basal ganglia calcification, idiopathic, 1
- SLC20A2 p.Gln46Glu Uncertain significance Single submitter
-
SLC20A2 p.Glu444Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Gly40Asp
Uncertain significance
Single submitter
basal ganglia calcification, idiopathic, 1
- SLC20A2 p.His345Tyr Uncertain significance Single submitter
-
SLC20A2 p.His348Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Leu208His Uncertain significance Single submitter
- SLC20A2 p.Leu246Ser Uncertain significance Single submitter
- SLC20A2 p.Leu357Arg Uncertain significance Single submitter
- SLC20A2 p.Lys142Arg Uncertain significance Single submitter
-
SLC20A2 p.Lys72Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Met157Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Met559Ile Uncertain significance Single submitter
- SLC20A2 p.Phe271Leu Uncertain significance Single submitter
- SLC20A2 p.Ser435Asn Uncertain significance Single submitter
-
SLC20A2 p.Thr318Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Thr346Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC20A2 p.Thr532Ile
Conflicting
Single submitter
Inborn genetic diseases
- SLC20A2 p.Trp237Cys Uncertain significance Single submitter
-
SLC20A2 p.Val526Leu
Uncertain significance
Single submitter
basal ganglia calcification, idiopathic, 1
-
SLC20A2 p.Val534Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC20A2 p.Val603Met Uncertain significance Single submitter
- SLC20A2 p.Ile118Thr Uncertain significance No assertion criteria
All SLC20A2 variants
Pathogenic 51
- c.290-8A>G Multiple submitters basal ganglia calcification, idiopathic, 1
- c.935-2A>G Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Arg382Ter Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Arg467Ter Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Gln46Ter Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Glu459Ter Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Ile169_Leu170insTer Multiple submitters SLC20A2-related disorder
- p.Ser113Ter Multiple submitters
- p.Ser261fs Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Thr115Met Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Trp535Ter Multiple submitters basal ganglia calcification, idiopathic, 1
- c.1523+1G>A Single submitter
- c.1523+1G>C Single submitter
- c.1523+1G>T Single submitter
- c.1794+1G>A Single submitter
- c.431-2A>T Single submitter
- c.730_730+1del Single submitter
- c.731-18_738del Single submitter basal ganglia calcification, idiopathic, 1
- c.935-1G>A Single submitter
- p.Ala21fs Single submitter basal ganglia calcification, idiopathic, 1
- p.Ala480fs Single submitter basal ganglia calcification, idiopathic, 1
- p.Asn27fs Single submitter basal ganglia calcification, idiopathic, 1
- p.Cys394fs Single submitter
- p.Gln373Ter Single submitter
- p.Glu482fs Single submitter
- p.Glu575Ter Single submitter basal ganglia calcification, idiopathic, 1
- p.Gly207fs Single submitter
- p.Ile19fs Single submitter Inborn genetic diseases
- p.Leu153fs Single submitter
- p.Leu217fs Single submitter basal ganglia calcification, idiopathic, 1
- p.Leu315fs Single submitter
- p.Leu62Pro Single submitter basal ganglia calcification, idiopathic, 1
- p.Leu7fs Single submitter basal ganglia calcification, idiopathic, 1
- p.Lys172fs Single submitter
- p.Lys475Ter Single submitter
- p.Lys561Ter Single submitter
- p.Phe33fs Single submitter basal ganglia calcification, idiopathic, 1
- p.Ser324Ter Single submitter
- p.Ser408Ter Single submitter
- p.Ser413fs Single submitter
- p.Ser435fs Single submitter
- p.Ser601Leu Single submitter basal ganglia calcification, idiopathic, 1
- p.Thr546fs Single submitter basal ganglia calcification, idiopathic, 1
- p.Trp137Ter Single submitter Inborn genetic diseases
- p.Trp551Ter Single submitter
- p.Trp8Ter Single submitter
- p.Tyr386Ter Single submitter SLC20A2-related disorder
- p.Val230fs Single submitter
- p.Gln528Ter No assertion criteria basal ganglia calcification, idiopathic, 1
- p.Leu87fs No assertion criteria SLC20A2-related disorder
- p.Ser601Trp No assertion criteria basal ganglia calcification, idiopathic, 1
Pathogenic/Likely pathogenic 7
- c.1794+1del Multiple submitters SLC20A2-related disorder
- c.1794+1G>C Multiple submitters SLC20A2-related disorder
- p.Asp28Asn Multiple submitters SLC20A2-related disorder
- p.Glu575Lys Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Ile285fs Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Pro568Leu Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Val195fs Multiple submitters basal ganglia calcification, idiopathic, 1
Likely pathogenic 24
- c.1709+1G>A Single submitter SLC20A2-related disorder
- c.1710-1G>A Single submitter
- c.1795-2A>G Single submitter
- c.290-1G>A Single submitter basal ganglia calcification, idiopathic, 1
- c.613+1G>A Single submitter basal ganglia calcification, idiopathic, 1
- p.Arg382Gln Single submitter ⚠
- p.Asp615Glu Single submitter basal ganglia calcification, idiopathic, 1 ⚠
- p.Glu55fs Single submitter basal ganglia calcification, idiopathic, 1
- p.Gly498Arg Single submitter basal ganglia calcification, idiopathic, 1
- p.Gly503Cys Single submitter
- p.Gly63Asp Single submitter basal ganglia calcification, idiopathic, 1
- p.His399Pro Single submitter basal ganglia calcification, idiopathic, 1 ⚠
- p.Ile608_Trp616del Single submitter
- p.Leu153Ter Single submitter
- p.Ser407Ter Single submitter basal ganglia calcification, idiopathic, 1
- p.Ser508Asn Single submitter
- p.Ser586Pro Single submitter
- p.Ser610fs Single submitter SLC20A2-related disorder
- p.Thr115Lys Single submitter basal ganglia calcification, idiopathic, 1
- p.Tyr436Ter Single submitter
- p.Val507fs Single submitter basal ganglia calcification, idiopathic, 1
- c.1795-1G>A No assertion criteria basal ganglia calcification, idiopathic, 1
- p.Trp101fs No assertion criteria basal ganglia calcification, idiopathic, 1
- p.Tyr430Ter No assertion criteria SLC20A2-related disorder
Conflicting classifications of pathogenicity 18
- c.614-4C>T Single submitter
- c.731-3T>C Single submitter
- c.935-3C>G Single submitter Inborn genetic diseases
- c.-89A>G Single submitter basal ganglia calcification, idiopathic, 1
- p.Ala227Thr Single submitter basal ganglia calcification, idiopathic, 1
- p.Ala99Thr Single submitter Inborn genetic diseases ⚠
- p.Arg617Cys Single submitter basal ganglia calcification, idiopathic, 1 ⚠
- p.Asn178Ser Single submitter Inborn genetic diseases ⚠
- p.Asp282= Single submitter basal ganglia calcification, idiopathic, 1
- p.Glu446Asp Single submitter basal ganglia calcification, idiopathic, 1
- p.Gly571Ser Single submitter ⚠
- p.Gly63Ser Single submitter basal ganglia calcification, idiopathic, 1 ⚠
- p.Ser298Pro Single submitter Inborn genetic diseases ⚠
- p.Ser570= Single submitter Inborn genetic diseases
- p.Ser601= Single submitter basal ganglia calcification, idiopathic, 1
- p.Thr532Ile Single submitter Inborn genetic diseases ⚠
- p.Thr595Met Single submitter basal ganglia calcification, idiopathic, 1 ⚠
- p.Trp616Ter Single submitter Inborn genetic diseases
Benign 33
- c.1524-176A>G Multiple submitters
- c.1794+159T>C Multiple submitters
- c.1795-32C>T Multiple submitters
- c.290-13C>A Multiple submitters basal ganglia calcification, idiopathic, 1
- c.290-5T>C Multiple submitters basal ganglia calcification, idiopathic, 1
- c.517-250G>T Multiple submitters
- c.517-25A>G Multiple submitters
- c.730+173T>C Multiple submitters
- c.935-45A>G Multiple submitters
- c.-305G>A Multiple submitters basal ganglia calcification, idiopathic, 1
- c.-534A>T Multiple submitters basal ganglia calcification, idiopathic, 1
- c.*1057C>G Multiple submitters basal ganglia calcification, idiopathic, 1
- c.*361A>G Multiple submitters basal ganglia calcification, idiopathic, 1
- c.*380C>T Multiple submitters basal ganglia calcification, idiopathic, 1
- c.*570G>T Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Ala303= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Gly304Ser Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Gly418= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Thr337= Multiple submitters basal ganglia calcification, idiopathic, 1
- c.1523+24C>G Single submitter
- c.1709+20C>T Single submitter
- c.1709+275G>C Single submitter
- c.1710-16C>T Single submitter
- c.430+21C>A Single submitter
- c.934+10G>A Single submitter
- c.935-36del Single submitter
- c.935-49dup Single submitter
- c.-592C>T Single submitter basal ganglia calcification, idiopathic, 1
- c.*120C>G Single submitter basal ganglia calcification, idiopathic, 1
- c.*263A>C Single submitter basal ganglia calcification, idiopathic, 1
- c.*926C>T Single submitter basal ganglia calcification, idiopathic, 1
- p.Gly329= Single submitter
- p.Ile588= Single submitter
Benign/Likely benign 23
- c.431-11del Multiple submitters
- c.431-11dup Multiple submitters
- c.935-12A>C Multiple submitters basal ganglia calcification, idiopathic, 1
- c.*112G>T Multiple submitters basal ganglia calcification, idiopathic, 1
- c.*113A>T Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Ala400Thr Multiple submitters
- p.Ala480Thr Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Ala604= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Arg254Gln Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Arg378= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Arg609Cys Multiple submitters
- p.Gln46= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.His336= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Leu20= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Leu428= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Leu62= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Met645Lys Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Pro367= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Ser283= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Ser637= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Thr527Met Multiple submitters Inborn genetic diseases
- p.Tyr311= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Val263Ile Multiple submitters basal ganglia calcification, idiopathic, 1
Likely benign 80
- c.1710-141T>G Multiple submitters
- c.1710-148C>T Multiple submitters
- c.1794+150T>G Multiple submitters
- c.1795-9C>T Multiple submitters
- c.430+132A>G Multiple submitters
- c.613+19C>G Multiple submitters
- c.935-20C>T Multiple submitters
- p.Gly524= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Ile588Val Multiple submitters Inborn genetic diseases
- p.Phe226= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Pro568= Multiple submitters
- p.Thr567= Multiple submitters basal ganglia calcification, idiopathic, 1
- p.Tyr187= Multiple submitters
- p.Val632= Multiple submitters
- c.1523+41G>T Single submitter
- c.1523+42C>A Single submitter
- c.1524-131dup Single submitter
- c.1524-35A>G Single submitter
- c.1710-7C>T Single submitter
- c.1794+17C>T Single submitter
- c.1794+18G>A Single submitter
- c.1795-15T>C Single submitter
- c.1795-6C>G Single submitter
- c.431-6A>T Single submitter
- c.517-10C>T Single submitter
- c.614-17C>G Single submitter
- c.614-7T>C Single submitter
- c.730+12T>C Single submitter
- c.935-19C>G Single submitter
- p.Ala214Pro Single submitter
- p.Ala405= Single submitter
- p.Ala461= Single submitter
- p.Ala510= Single submitter
- p.Ala64= Single submitter
- p.Arg239= Single submitter
- p.Asn27= Single submitter
- p.Asp431= Single submitter
- p.Asp469= Single submitter
- p.Asp506= Single submitter
- p.Gln247= Single submitter
- p.Glu414= Single submitter
- p.Glu459Asp Single submitter basal ganglia calcification, idiopathic, 1
- p.Gly341= Single submitter
- p.Gly547= Single submitter
- p.Gly552= Single submitter
- p.Gly73= Single submitter
- p.Ile361= Single submitter
- p.Ile74= Single submitter
- p.Leu206= Single submitter
- p.Leu295= Single submitter
- p.Leu379= Single submitter
- p.Leu536= Single submitter Inborn genetic diseases
- p.Leu87= Single submitter
- p.Lys241= Single submitter
- p.Lys612= Single submitter
- p.Phe229= Single submitter
- p.Phe623= Single submitter
- p.Phe627= Single submitter
- p.Pro236= Single submitter
- p.Pro269= Single submitter
- p.Pro286= Single submitter
- p.Ser339= Single submitter
- p.Ser434= Single submitter
- p.Thr115= Single submitter
- p.Thr288= Single submitter
- p.Thr294= Single submitter
- p.Thr318= Single submitter
- p.Thr390= Single submitter
- p.Thr401= Single submitter
- p.Thr494= Single submitter
- p.Tyr651= Single submitter
- p.Val128= Single submitter
- p.Val195= Single submitter
- p.Val222= Single submitter
- p.Val255= Single submitter
- p.Val398= Single submitter
- p.Val421= Single submitter
- p.Val534Ile Single submitter Inborn genetic diseases
- p.Val624= Single submitter
- c.517-3C>T No assertion criteria SLC20A2-related disorder
Uncertain significance 207
- p.Ala203Val Multiple submitters ⚠
- p.Ala480Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala633Ser Multiple submitters basal ganglia calcification, idiopathic, 1 ⚠
- p.Ala638Thr Multiple submitters basal ganglia calcification, idiopathic, 1 ⚠
- p.Arg181Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg308Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg617His Multiple submitters Inborn genetic diseases ⚠
- p.Arg71His Multiple submitters ⚠
- p.Asn194Ser Multiple submitters ⚠
- p.Asn384Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp356Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly131Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly13Val Multiple submitters ⚠
- p.Gly207Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly244Arg Multiple submitters ⚠
- p.His502Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile19Thr Multiple submitters basal ganglia calcification, idiopathic, 1 ⚠
- p.Lys349Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met199Thr Multiple submitters Inborn genetic diseases ⚠
- p.Phe168Val Multiple submitters ⚠
- p.Phe331Leu Multiple submitters ⚠
- p.Pro204Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro286Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro286Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser259Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser324Leu Multiple submitters basal ganglia calcification, idiopathic, 1 ⚠
- p.Ser339Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser408Leu Multiple submitters Inborn genetic diseases ⚠
- p.Tyr430Asn Multiple submitters basal ganglia calcification, idiopathic, 1 ⚠
- p.Val185Leu Multiple submitters basal ganglia calcification, idiopathic, 1 ⚠
- p.Val255Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val507Met Multiple submitters basal ganglia calcification, idiopathic, 1 ⚠
- p.Val60Met Multiple submitters Inborn genetic diseases ⚠
- c.1709+5G>T Single submitter
- c.1794+5del Single submitter
- c.289+5G>A Single submitter Inborn genetic diseases
- c.430+3A>C Single submitter
- c.516+9_516+10insAAAAAAGGTAAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA Single submitter
- c.-181T>A Single submitter basal ganglia calcification, idiopathic, 1
- c.-264-2A>C Single submitter
- c.-264-4A>G Single submitter basal ganglia calcification, idiopathic, 1
- c.-411C>T Single submitter basal ganglia calcification, idiopathic, 1
- c.-436C>T Single submitter basal ganglia calcification, idiopathic, 1
- c.-457G>T Single submitter basal ganglia calcification, idiopathic, 1
- c.-568C>A Single submitter basal ganglia calcification, idiopathic, 1
- c.*1069G>C Single submitter basal ganglia calcification, idiopathic, 1
- c.*124G>T Single submitter basal ganglia calcification, idiopathic, 1
- c.*1320C>T Single submitter basal ganglia calcification, idiopathic, 1
- c.*171G>A Single submitter basal ganglia calcification, idiopathic, 1
- c.*289A>C Single submitter basal ganglia calcification, idiopathic, 1
- c.*409A>G Single submitter basal ganglia calcification, idiopathic, 1
- c.*482T>C Single submitter basal ganglia calcification, idiopathic, 1
- c.*538C>T Single submitter basal ganglia calcification, idiopathic, 1
- c.*539G>A Single submitter basal ganglia calcification, idiopathic, 1
- c.*660T>C Single submitter basal ganglia calcification, idiopathic, 1
- c.*70C>T Single submitter basal ganglia calcification, idiopathic, 1
- c.*798G>A Single submitter basal ganglia calcification, idiopathic, 1
- c.*925G>T Single submitter basal ganglia calcification, idiopathic, 1
- p.473EEK[1] Single submitter
- p.Ala129Thr Single submitter Inborn genetic diseases ⚠
- p.Ala192Val Single submitter ⚠
- p.Ala266Glu Single submitter Inborn genetic diseases ⚠
- p.Ala266Thr Single submitter ⚠
- p.Ala279Ser Single submitter Inborn genetic diseases ⚠
- p.Ala279Thr Single submitter ⚠
- p.Ala291Pro Single submitter ⚠
- p.Ala2Thr Single submitter Inborn genetic diseases ⚠
- p.Ala303Val Single submitter ⚠
- p.Ala310Val Single submitter ⚠
- p.Ala405Val Single submitter ⚠
- p.Ala439Val Single submitter ⚠
- p.Ala447Val Single submitter Inborn genetic diseases ⚠
- p.Ala480Ser Single submitter ⚠
- p.Ala51Val Single submitter ⚠
- p.Ala577Thr Single submitter basal ganglia calcification, idiopathic, 1 ⚠
- p.Arg239Gln Single submitter Inborn genetic diseases ⚠
- p.Arg239Trp Single submitter Inborn genetic diseases ⚠
- p.Arg378Trp Single submitter ⚠
- p.Arg427Ser Single submitter ⚠
- p.Arg467Gly Single submitter ⚠
- p.Arg609His Single submitter Inborn genetic diseases ⚠
- p.Arg611Cys Single submitter Inborn genetic diseases ⚠
- p.Arg611His Single submitter ⚠
- p.Arg620Gln Single submitter ⚠
- p.Arg71Cys Single submitter ⚠
- p.Asn178Ile Single submitter ⚠
- p.Asn280Asp Single submitter ⚠
- p.Asp174Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp334His Single submitter ⚠
- p.Asp364Asn Single submitter basal ganglia calcification, idiopathic, 1 ⚠
- p.Asp364His Single submitter ⚠
- p.Asp364Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp431Asn Single submitter Inborn genetic diseases ⚠
- p.Asp431Gly Single submitter ⚠
- p.Asp431Val Single submitter ⚠
- p.Cys235Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln46Glu Single submitter ⚠
- p.Gln523Arg Single submitter ⚠
- p.Glu444Val Single submitter Inborn genetic diseases ⚠
- p.Glu477del Single submitter
- p.Glu529Ala Single submitter ⚠
- p.Gly131Ser Single submitter Inborn genetic diseases ⚠
- p.Gly13Asp Single submitter ⚠
- p.Gly179Asp Single submitter ⚠
- p.Gly25Ala Single submitter ⚠
- p.Gly25Arg Single submitter ⚠
- p.Gly320Ser Single submitter ⚠
- p.Gly40Asp Single submitter basal ganglia calcification, idiopathic, 1 ⚠
- p.Gly418Asp Single submitter Inborn genetic diseases ⚠
- p.Gly450Asp Single submitter ⚠
- p.Gly504Ser Single submitter Inborn genetic diseases ⚠
- p.Gly512_Pro513del Single submitter
- p.Gly512Asp Single submitter ⚠
- p.Gly512Ser Single submitter Inborn genetic diseases ⚠
- p.Gly560Val Single submitter ⚠
- p.Gly589Arg Single submitter ⚠
- p.Gly58Ser Single submitter ⚠
- p.Gly634Arg Single submitter ⚠
- p.Gly634Glu Single submitter Inborn genetic diseases ⚠
- p.Gly73Val Single submitter basal ganglia calcification, idiopathic, 1 ⚠
- p.His345Tyr Single submitter ⚠
- p.His348Arg Single submitter Inborn genetic diseases ⚠
- p.His399= Single submitter basal ganglia calcification, idiopathic, 1
- p.His484Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile198Val Single submitter ⚠
- p.Ile215Thr Single submitter ⚠
- p.Ile215Val Single submitter Inborn genetic diseases ⚠
- p.Ile584Thr Single submitter Inborn genetic diseases ⚠
- p.Ile588Met Single submitter Inborn genetic diseases ⚠
- p.Leu208His Single submitter ⚠
- p.Leu246Ser Single submitter ⚠
- p.Leu315Pro Single submitter Inborn genetic diseases ⚠
- p.Leu357Arg Single submitter ⚠
- p.Leu519Val Single submitter ⚠
- p.Lys142Arg Single submitter ⚠
- p.Lys278= Single submitter basal ganglia calcification, idiopathic, 1
- p.Lys426del Single submitter basal ganglia calcification, idiopathic, 1
- p.Lys478_Asp479insGluGluLys Single submitter
- p.Lys72Arg Single submitter Inborn genetic diseases ⚠
- p.Met157Ile Single submitter Inborn genetic diseases ⚠
- p.Met199Ile Single submitter Inborn genetic diseases
- p.Met1Val Single submitter
- p.Met212Thr Single submitter ⚠
- p.Met317Leu Single submitter ⚠
- p.Met454Ile Single submitter Inborn genetic diseases ⚠
- p.Met454Lys Single submitter
- p.Met559Ile Single submitter ⚠
- p.Met641fs Single submitter
- p.Met645Val Single submitter basal ganglia calcification, idiopathic, 1 ⚠
- p.Met88Val Single submitter Inborn genetic diseases ⚠
- p.Phe156Ile Single submitter ⚠
- p.Phe156Leu Single submitter Inborn genetic diseases ⚠
- p.Phe162Leu Single submitter ⚠
- p.Phe271Leu Single submitter ⚠
- p.Phe33Leu Single submitter ⚠
- p.Pro151Gln Single submitter ⚠
- p.Pro236Leu Single submitter ⚠
- p.Pro307Ser Single submitter ⚠
- p.Pro367Ser Single submitter ⚠
- p.Pro463Thr Single submitter ⚠
- p.Pro650= Single submitter
- p.Ser146Pro Single submitter ⚠
- p.Ser23= Single submitter basal ganglia calcification, idiopathic, 1
- p.Ser268Tyr Single submitter ⚠
- p.Ser298Leu Single submitter ⚠
- p.Ser321Phe Single submitter ⚠
- p.Ser321Tyr Single submitter ⚠
- p.Ser435Asn Single submitter ⚠
- p.Ser499Cys Single submitter Inborn genetic diseases ⚠
- p.Ser593Ile Single submitter Inborn genetic diseases ⚠
- p.Ser59Phe Single submitter ⚠
- p.Ser98_Ala99delinsGlnLeuGlnSer Single submitter Inborn genetic diseases
- p.Thr132Ala Single submitter ⚠
- p.Thr190Ala Single submitter basal ganglia calcification, idiopathic, 1 ⚠
- p.Thr201Ala Single submitter basal ganglia calcification, idiopathic, 1 ⚠
- p.Thr288Arg Single submitter Inborn genetic diseases ⚠
- p.Thr294Ile Single submitter ⚠
- p.Thr301Ile Single submitter ⚠
- p.Thr318Ile Single submitter Inborn genetic diseases ⚠
- p.Thr346Ser Single submitter Inborn genetic diseases ⚠
- p.Thr35Lys Single submitter ⚠
- p.Thr573Met Single submitter Inborn genetic diseases ⚠
- p.Trp213Ser Single submitter ⚠
- p.Trp231Cys Single submitter ⚠
- p.Trp237Cys Single submitter ⚠
- p.Trp607Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr539Cys Single submitter ⚠
- p.Val205Met Single submitter ⚠
- p.Val234Leu Single submitter Inborn genetic diseases
- p.Val29Leu Single submitter ⚠
- p.Val37Met Single submitter ⚠
- p.Val421Met Single submitter ⚠
- p.Val452Gly Single submitter Inborn genetic diseases ⚠
- p.Val507Leu Single submitter Inborn genetic diseases ⚠
- p.Val526Leu Single submitter basal ganglia calcification, idiopathic, 1 ⚠
- p.Val534Phe Single submitter Inborn genetic diseases ⚠
- p.Val599Met Single submitter ⚠
- p.Val603Met Single submitter ⚠
- p.Val630Ile Single submitter Inborn genetic diseases ⚠
- p.Val632Ala Single submitter
- p.Val640Leu Single submitter Inborn genetic diseases ⚠
- p.Val77Met Single submitter ⚠
- c.289+5G>C No assertion criteria SLC20A2-related disorder
- p.Arg620Trp No assertion criteria vascular dementia ⚠
- p.Gly38Ser No assertion criteria basal ganglia calcification, idiopathic, childhood-onset ⚠
- p.Ile118Thr No assertion criteria ⚠
- p.Ser59Tyr No assertion criteria SLC20A2-related disorder ⚠