OCRL — 880 ClinVar variants
All ClinVar germline OCRL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 247 flagged for review →
86 Pathogenic · 8 Pathogenic/Likely pathogenic · 63 Likely pathogenic · 46 Conflicting · 40 Benign · 24 Benign/Likely benign · 348 Likely benign · 265 Uncertain significance
Full OCRL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 247
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.
-
OCRL p.Ile533Thr
Pathogenic
No assertion criteria
Dent disease type 2
Predictors agree, ClinVar conflicts 24
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
OCRL p.Ala749Ser
Conflicting
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg446Gly
Conflicting
Single submitter
Nephrolithiasis/nephrocalcinosis
- OCRL p.Arg500Gly Conflicting Single submitter
-
OCRL p.Arg514Gln
Conflicting
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Arg689His
Conflicting
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Arg837His
Conflicting
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Asn440Lys
Conflicting
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Asn592Ile
Conflicting
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Asn79Asp
Conflicting
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Asp161Asn
Conflicting
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Gln34Arg
Conflicting
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Glu284Lys
Conflicting
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Glu899Lys
Conflicting
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Gly17Ala
Conflicting
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Gly257Arg
Conflicting
Single submitter
Dent disease type 2
-
OCRL p.His61Arg
Conflicting
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Ile58Val
Conflicting
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Met158Ile
Conflicting
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Met761Arg
Conflicting
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Ser143Phe
Conflicting
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Ser60Asn
Conflicting
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Tyr39His
Conflicting
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Val508Ile
Conflicting
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Val855Ile
Conflicting
Single submitter
oculocerebrorenal syndrome
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
OCRL c.2582-1G>A
Conflicting
Single submitter
oculocerebrorenal syndrome
Predictors lean, ClinVar uncertain 169
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 169
-
OCRL p.Arg175Trp
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
- OCRL p.Arg230Gln Uncertain significance Multiple submitters
-
OCRL p.Arg25Pro
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Arg457His
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Arg819Gln
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Arg886His
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Asn154Ser
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Asn196Asp
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Asn196Thr
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Asn267Asp
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Cys333Phe
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Gly505Arg
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Ile55Leu
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Ile55Thr
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Ile55Val
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Leu209Phe
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Lys312Glu
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Lys701Arg
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Lys713Arg
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Met187Ile
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Ser642Pro
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Thr14Ala
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Thr31Ile
Uncertain significance
Multiple submitters
Dent disease type 2
-
OCRL p.Thr670Ile
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Thr865Ala
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Tyr288Ser
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Val344Ala
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Val630Ala
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Ala117Val
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Ala29Val
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Ala309Val Uncertain significance Single submitter
-
OCRL p.Ala328Thr
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Ala328Val
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Ala432Thr Uncertain significance Single submitter
-
OCRL p.Ala496Val
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Ala529Asp
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Ala529Ser
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Ala861Ser
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg175Gly
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg190His
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg190Pro
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg207Gln
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Arg219Leu Uncertain significance Single submitter
-
OCRL p.Arg219Trp
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Arg241Lys
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg329Lys
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg337His
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Arg361Ile
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg457Cys
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg457Pro
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg485Pro
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Arg552Cys Uncertain significance Single submitter
-
OCRL p.Arg556Gly
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg580Trp
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Arg663Gln Uncertain significance Single submitter
- OCRL p.Arg695Gln Uncertain significance Single submitter
-
OCRL p.Arg810Gln
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg819Trp
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Arg822Gln Uncertain significance Single submitter
- OCRL p.Asn204Ser Uncertain significance Single submitter
-
OCRL p.Asn248Ser
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Asn403Thr Uncertain significance Single submitter
- OCRL p.Asn433Ser Uncertain significance Single submitter
- OCRL p.Asn467Asp Uncertain significance Single submitter
-
OCRL p.Asn467Lys
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Asn856Ser Uncertain significance Single submitter
-
OCRL p.Asn874Asp
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Asn874Ser
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Asp100Asn
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Asp255Asn
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Asp270Gly
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Asp422Gly Uncertain significance Single submitter
-
OCRL p.Asp465His
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Asp480Val
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Asp773Glu
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Cys428Gly
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Gln115Arg
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Gln199Arg
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Gln452Arg
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Gln456Arg
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Gln456Pro
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Gln879His Uncertain significance Single submitter
- OCRL p.Glu102Lys Uncertain significance Single submitter
-
OCRL p.Glu191Gln
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Glu193Gly Uncertain significance Single submitter
-
OCRL p.Glu259Gln
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Glu415Asp Uncertain significance Single submitter
-
OCRL p.Glu575Asp
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Glu585Gly
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Glu650Lys
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Glu696Lys
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Glu753Asp
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Glu764Asp
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Glu900Asp
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Gly147Ala
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Gly221Val
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Gly505Glu
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.His174Tyr
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.His51Gln
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.His532Arg
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.His61Tyr
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Ile336Thr Uncertain significance Single submitter
- OCRL p.Ile411Thr Uncertain significance Single submitter
- OCRL p.Ile418Thr Uncertain significance Single submitter
- OCRL p.Ile42Val Uncertain significance Single submitter
- OCRL p.Ile439Val Uncertain significance Single submitter
- OCRL p.Ile55Asn Uncertain significance Single submitter
- OCRL p.Ile56Thr Uncertain significance Single submitter
-
OCRL p.Ile56Val
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
- OCRL p.Ile645Val Uncertain significance Single submitter
- OCRL p.Ile671Leu Uncertain significance Single submitter
-
OCRL p.Ile738Met
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Ile769Thr Uncertain significance Single submitter
- OCRL p.Ile825Met Uncertain significance Single submitter
- OCRL p.Leu262Pro Uncertain significance Single submitter
-
OCRL p.Leu316Val
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Leu32Val
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Leu406Phe
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Leu615Phe
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Leu634Pro Uncertain significance Single submitter
- OCRL p.Leu717Arg Uncertain significance Single submitter
- OCRL p.Leu717Phe Uncertain significance Single submitter
-
OCRL p.Leu863Val
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Leu896Phe
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Lys192Glu
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Lys201Glu
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Lys472Asn
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Lys478Glu
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
- OCRL p.Met206Val Uncertain significance Single submitter
-
OCRL p.Met299Val
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Met349Thr Uncertain significance Single submitter
-
OCRL p.Met397Lys
Uncertain significance
Single submitter
Dent disease type 2
-
OCRL p.Met761Leu
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Met859Val
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Phe240Cys Uncertain significance Single submitter
-
OCRL p.Pro124Ala
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Pro260Ser
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Pro266Ser Uncertain significance Single submitter
-
OCRL p.Pro407Leu
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Pro735His
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Pro781Ala
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Pro781Ser Uncertain significance Single submitter
-
OCRL p.Pro881Ala
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Ser130Thr
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Ser146Leu
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Ser183Leu
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Ser291Cys
Uncertain significance
Single submitter
OCRL-related disorder
-
OCRL p.Ser568Arg
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Ser633Phe
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Ser633Tyr
Uncertain significance
Single submitter
oculocerebrorenal syndrome
Predictors split 52
The independent predictors disagree with each other — read with care.
-
OCRL p.Ala395Val
Likely benign
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Ala861Thr
Pathogenic/Likely pathogenic
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Arg819Pro
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Asn366Ser
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Glu628Lys
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Gly150Arg
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Lys478Arg
Uncertain significance
Multiple submitters
oculocerebrorenal syndrome
-
OCRL p.Ser648Leu
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
- OCRL p.Ala114Thr Uncertain significance Single submitter
-
OCRL p.Ala529Thr
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Ala749Thr Uncertain significance Single submitter
-
OCRL p.Arg219Gln
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg241Thr
Conflicting
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg337Cys
Conflicting
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg485Trp
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg552His
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg580Gln
Conflicting
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Arg663Leu
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Arg689Cys Uncertain significance Single submitter
-
OCRL p.Asn454Thr
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Asp100Val Uncertain significance Single submitter
- OCRL p.Asp431Gly Uncertain significance Single submitter
-
OCRL p.Asp451Asn
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Asp451Gly
Likely pathogenic
Single submitter
OCRL-related disorder
-
OCRL p.Asp817Tyr
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Asp901Tyr Uncertain significance Single submitter
-
OCRL p.Cys804Arg
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Cys831Arg
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Gln594Arg
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Glu220Val
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Glu69Val
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Gly22Ser
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Gly88Glu
Uncertain significance
Single submitter
intellectual developmental disorder, autosomal dominant 65
- OCRL p.His306Tyr Uncertain significance Single submitter
-
OCRL p.Ile336Phe
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Leu448Ser
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Leu605Phe
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Leu863Phe
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Leu867Arg Uncertain significance Single submitter
-
OCRL p.Met322Ile
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Met557Ile
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Met690Ile
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Phe894Ile
Conflicting
Single submitter
Nephrolithiasis/nephrocalcinosis
- OCRL p.Phe894Val Uncertain significance Single submitter
-
OCRL p.Pro407Arg
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Pro871Thr
Uncertain significance
Single submitter
OCRL-related disorder
-
OCRL p.Ser156Cys
Uncertain significance
Single submitter
oculocerebrorenal syndrome
- OCRL p.Ser374Cys Uncertain significance Single submitter
-
OCRL p.Ser826Phe
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Val643Leu
Uncertain significance
Single submitter
oculocerebrorenal syndrome
-
OCRL p.Val697Ala
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
OCRL p.Gln277Glu
Likely pathogenic
No assertion criteria
oculocerebrorenal syndrome
All OCRL variants
Pathogenic 86
- c.1714-1G>A Multiple submitters oculocerebrorenal syndrome
- p.Arg334Ter Multiple submitters OCRL-related disorder
- p.Arg493Trp Multiple submitters Dent disease type 2
- p.Arg500Gln Multiple submitters OCRL-related disorder
- p.Arg500Ter Multiple submitters oculocerebrorenal syndrome
- p.Arg541Ter Multiple submitters oculocerebrorenal syndrome
- p.Arg663Ter Multiple submitters OCRL-related disorder
- p.Arg810Ter Multiple submitters Dent disease type 2
- p.Arg822Ter Multiple submitters Dent disease type 2
- p.Arg844Ter Multiple submitters oculocerebrorenal syndrome
- p.Asp480_Ser481insTer Multiple submitters oculocerebrorenal syndrome
- p.Asp523Asn Multiple submitters oculocerebrorenal syndrome
- p.Asp770fs Multiple submitters oculocerebrorenal syndrome
- p.Gln767Ter Multiple submitters oculocerebrorenal syndrome
- p.Pro526Ser Multiple submitters oculocerebrorenal syndrome
- p.Ser642fs Multiple submitters oculocerebrorenal syndrome
- p.Val787fs Multiple submitters oculocerebrorenal syndrome
- c.1602+1G>T Single submitter oculocerebrorenal syndrome
- c.199+1G>A Single submitter
- c.2257-2A>T Single submitter oculocerebrorenal syndrome
- c.2341+1G>A Single submitter
- c.239-4023A>G Single submitter oculocerebrorenal syndrome
- c.239delG Single submitter
- c.2469+1G>A Single submitter oculocerebrorenal syndrome
- c.2470-2A>G Single submitter
- c.2557_2558insLINE1 Single submitter
- c.2582-1G>T Single submitter
- c.723-1G>A Single submitter oculocerebrorenal syndrome
- p.Ala797Pro Single submitter oculocerebrorenal syndrome
- p.Asp382_Phe383insTer Single submitter
- p.Cys498Arg Single submitter oculocerebrorenal syndrome
- p.Cys597Ter Single submitter oculocerebrorenal syndrome
- p.Cys771fs Single submitter oculocerebrorenal syndrome
- p.Gln215Ter Single submitter oculocerebrorenal syndrome
- p.Gln315Ter Single submitter oculocerebrorenal syndrome
- p.Gln404Ter Single submitter oculocerebrorenal syndrome
- p.Gln408fs Single submitter oculocerebrorenal syndrome
- p.Gln408Ter Single submitter oculocerebrorenal syndrome
- p.Gln452Ter Single submitter oculocerebrorenal syndrome
- p.Gln510Ter Single submitter oculocerebrorenal syndrome
- p.Gln827Ter Single submitter oculocerebrorenal syndrome
- p.Gln87fs Single submitter OCRL-related disorder
- p.Glu220fs Single submitter oculocerebrorenal syndrome
- p.Glu302Ter Single submitter oculocerebrorenal syndrome
- p.Glu342Ter Single submitter oculocerebrorenal syndrome
- p.Glu566Ter Single submitter oculocerebrorenal syndrome
- p.Glu571fs Single submitter oculocerebrorenal syndrome
- p.Gly304fs Single submitter
- p.His365fs Single submitter
- p.Ile226fs Single submitter oculocerebrorenal syndrome
- p.Ile274fs Single submitter oculocerebrorenal syndrome
- p.Leu222fs Single submitter oculocerebrorenal syndrome
- p.Leu324fs Single submitter
- p.Leu565fs Single submitter oculocerebrorenal syndrome
- p.Leu661fs Single submitter
- p.Leu73fs Single submitter Dent disease type 2
- p.Lys232fs Single submitter Dent disease
- p.Lys525Gln Single submitter
- p.Pro179fs Single submitter
- p.Pro526Leu Single submitter oculocerebrorenal syndrome
- p.Pro563_Ser564insTer Single submitter
- p.Pro693fs Single submitter oculocerebrorenal syndrome
- p.Ser166Ter Single submitter
- p.Ser608fs Single submitter oculocerebrorenal syndrome
- p.Ser786fs Single submitter
- p.Trp247fs Single submitter oculocerebrorenal syndrome
- p.Trp486Ter Single submitter Dent disease type 2
- p.Tyr288fs Single submitter oculocerebrorenal syndrome
- p.Tyr543Ter Single submitter oculocerebrorenal syndrome
- p.Tyr805Ter Single submitter
- p.Val855fs Single submitter
- c.1056+1G>A No assertion criteria Dent disease type 2
- c.1245-1083G>A No assertion criteria Dent disease type 2
- c.1467-1G>A No assertion criteria Dent disease type 2
- c.610_1244+348del No assertion criteria oculocerebrorenal syndrome
- c.-165-?_199+?del No assertion criteria oculocerebrorenal syndrome
- c.-165-?_238+?del No assertion criteria oculocerebrorenal syndrome
- c.-165-?_*2286+?del No assertion criteria oculocerebrorenal syndrome
- p.His524Gln No assertion criteria oculocerebrorenal syndrome
- p.Ile533Thr No assertion criteria Dent disease type 2 ⚠
- p.Ile56fs No assertion criteria Dent disease type 2
- p.Met876fs No assertion criteria hypercholesterolemia, familial, 1
- p.Pro693Leu No assertion criteria Dent disease type 2
- p.Tyr479Cys No assertion criteria Dent disease type 2
- p.Val636Glu No assertion criteria oculocerebrorenal syndrome
- p.Val824Leufs*9 No assertion criteria oculocerebrorenal syndrome
Pathogenic/Likely pathogenic 8
- c.1244+1G>A Multiple submitters oculocerebrorenal syndrome
- c.560+1G>C Multiple submitters Dent disease type 2
- c.940-11G>A Multiple submitters Dent disease type 2
- p.Ala861Thr Multiple submitters oculocerebrorenal syndrome ⚠
- p.Arg318Cys Multiple submitters oculocerebrorenal syndrome
- p.Arg318His Multiple submitters oculocerebrorenal syndrome
- p.Arg695Ter Multiple submitters OCRL-related disorder
- p.Glu585del Multiple submitters OCRL-related disorder
Likely pathogenic 63
- c.2256+1G>T Multiple submitters oculocerebrorenal syndrome
- p.Gly347Glu Multiple submitters Dent disease type 2
- p.His524Tyr Multiple submitters
- c.1057-2_1057-1del Single submitter oculocerebrorenal syndrome
- c.120-2A>G Single submitter OCRL-related disorder
- c.1244+1338_1366del Single submitter oculocerebrorenal syndrome
- c.1713+1G>A Single submitter oculocerebrorenal syndrome
- c.1713+2T>C Single submitter Dent disease type 2
- c.1713+2T>G Single submitter Nephrolithiasis/nephrocalcinosis
- c.1714-2A>G Single submitter oculocerebrorenal syndrome
- c.1879+2T>G Single submitter oculocerebrorenal syndrome
- c.2115+1G>C Single submitter oculocerebrorenal syndrome
- c.2139+1G>A Single submitter oculocerebrorenal syndrome
- c.238_238+1del Single submitter oculocerebrorenal syndrome
- c.2469+2T>G Single submitter oculocerebrorenal syndrome
- c.2470-1G>A Single submitter oculocerebrorenal syndrome
- c.2582-1G>C Single submitter Dent disease
- c.349+2T>G Single submitter oculocerebrorenal syndrome
- c.561-1G>A Single submitter oculocerebrorenal syndrome
- c.723-2dup Single submitter
- p.Ala861Pro Single submitter oculocerebrorenal syndrome
- p.Arg318Leu Single submitter OCRL-related disorder
- p.Arg329Ter Single submitter oculocerebrorenal syndrome
- p.Arg493Gln Single submitter oculocerebrorenal syndrome
- p.Arg580fs Single submitter
- p.Asn36fs Single submitter Dent disease type 2
- p.Asp100fs Single submitter Dent disease type 2
- p.Asp451Gly Single submitter OCRL-related disorder ⚠
- p.Asp451His Single submitter OCRL-related disorder
- p.Asp523Ala Single submitter
- p.Gln38fs Single submitter Dent disease type 2
- p.Gln459Ter Single submitter OCRL-related disorder
- p.Gln594Ter Single submitter oculocerebrorenal syndrome
- p.Glu193fs Single submitter oculocerebrorenal syndrome
- p.Glu585Ter Single submitter oculocerebrorenal syndrome
- p.Glu712fs Single submitter oculocerebrorenal syndrome
- p.Glu737Lys Single submitter Dent disease type 2
- p.Gly726fs Single submitter OCRL-related disorder
- p.His375Arg Single submitter
- p.His524Arg Single submitter oculocerebrorenal syndrome
- p.His660Pro Single submitter oculocerebrorenal syndrome
- p.Ile274Thr Single submitter oculocerebrorenal syndrome
- p.Ile371Thr Single submitter OCRL-related disorder
- p.Leu502Pro Single submitter
- p.Leu562fs Single submitter
- p.Leu684fs Single submitter oculocerebrorenal syndrome
- p.Leu847fs Single submitter OCRL-related disorder
- p.Met352fs Single submitter oculocerebrorenal syndrome
- p.Pro495Ser Single submitter Nephrolithiasis/nephrocalcinosis
- p.Ser143fs Single submitter OCRL-related disorder
- p.Ser522Asn Single submitter
- p.Thr644fs Single submitter OCRL-related disorder
- p.Trp247Ter Single submitter oculocerebrorenal syndrome
- p.Trp497Ter Single submitter oculocerebrorenal syndrome
- p.Val184fs Single submitter
- p.Val527Asp Single submitter Dent disease
- p.Val643fs Single submitter oculocerebrorenal syndrome
- c.1466+1G>A No assertion criteria oculocerebrorenal syndrome
- c.187_199+449del No assertion criteria Dent disease type 2
- p.Arg318Ser No assertion criteria
- p.Gln277Glu No assertion criteria oculocerebrorenal syndrome ⚠
- p.Gly275Ala No assertion criteria oculocerebrorenal syndrome
- p.Pro178fs No assertion criteria Dent disease type 2
Conflicting classifications of pathogenicity 46
- c.1057-7C>A Single submitter oculocerebrorenal syndrome
- c.119+15G>C Single submitter oculocerebrorenal syndrome
- c.1245-20T>G Single submitter oculocerebrorenal syndrome
- c.1467-4dup Single submitter oculocerebrorenal syndrome
- c.200-7C>T Single submitter Nephrolithiasis/nephrocalcinosis
- c.2582-1G>A Single submitter oculocerebrorenal syndrome ⚠
- c.39+10G>A Single submitter oculocerebrorenal syndrome
- c.40-5C>T Single submitter Nephrolithiasis/nephrocalcinosis
- c.439+3A>G Single submitter genetic developmental and epileptic encephalopathy
- c.440-15G>A Single submitter oculocerebrorenal syndrome
- c.940-15C>A Single submitter oculocerebrorenal syndrome
- p.Ala749Ser Single submitter oculocerebrorenal syndrome ⚠
- p.Arg241Thr Single submitter oculocerebrorenal syndrome ⚠
- p.Arg318= Single submitter Nephrolithiasis/nephrocalcinosis
- p.Arg337Cys Single submitter oculocerebrorenal syndrome ⚠
- p.Arg446Gly Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Arg500Gly Single submitter ⚠
- p.Arg514Gln Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Arg552= Single submitter Dent disease type 2
- p.Arg580Gln Single submitter oculocerebrorenal syndrome ⚠
- p.Arg689His Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Arg837His Single submitter oculocerebrorenal syndrome ⚠
- p.Asn440Lys Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Asn592Ile Single submitter oculocerebrorenal syndrome ⚠
- p.Asn79Asp Single submitter oculocerebrorenal syndrome ⚠
- p.Asp161Asn Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Gln34Arg Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Glu284Lys Single submitter oculocerebrorenal syndrome ⚠
- p.Glu618Lys Single submitter Nephrolithiasis/nephrocalcinosis
- p.Glu899Lys Single submitter oculocerebrorenal syndrome ⚠
- p.Gly17Ala Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Gly257Arg Single submitter Dent disease type 2 ⚠
- p.His61Arg Single submitter oculocerebrorenal syndrome ⚠
- p.Ile58Val Single submitter oculocerebrorenal syndrome ⚠
- p.Met158Ile Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Met761Arg Single submitter oculocerebrorenal syndrome ⚠
- p.Phe894Ile Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ser143Phe Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ser157= Single submitter oculocerebrorenal syndrome
- p.Ser256= Single submitter oculocerebrorenal syndrome
- p.Ser489= Single submitter Nephrolithiasis/nephrocalcinosis
- p.Ser528= Single submitter oculocerebrorenal syndrome
- p.Ser60Asn Single submitter oculocerebrorenal syndrome ⚠
- p.Tyr39His Single submitter oculocerebrorenal syndrome ⚠
- p.Val508Ile Single submitter oculocerebrorenal syndrome ⚠
- p.Val855Ile Single submitter oculocerebrorenal syndrome ⚠
Benign 40
- c.120-67G>A Multiple submitters
- c.1356+303G>A Multiple submitters
- c.1466+228G>C Multiple submitters
- c.1713+189A>T Multiple submitters
- c.1880-81C>T Multiple submitters
- c.199+16C>G Multiple submitters oculocerebrorenal syndrome
- c.2256+98A>G Multiple submitters
- c.2341+44A>G Multiple submitters
- c.40-80dup Multiple submitters oculocerebrorenal syndrome
- c.723-60A>C Multiple submitters
- c.*224T>C Multiple submitters
- c.*278G>A Multiple submitters
- p.Met299Ile Multiple submitters Nephrolithiasis/nephrocalcinosis
- c.120-4C>T Single submitter oculocerebrorenal syndrome
- c.1245-10dup Single submitter oculocerebrorenal syndrome
- c.1466+347dup Single submitter
- c.1603-161C>T Single submitter
- c.1603-207G>T Single submitter
- c.1603-322G>C Single submitter
- c.1714-248C>G Single submitter
- c.1879+39_1879+40insCTC Single submitter
- c.200-265A>G Single submitter
- c.200-4_200-3del Single submitter oculocerebrorenal syndrome
- c.200-7dup Single submitter oculocerebrorenal syndrome
- c.2116-191_2116-187del Single submitter
- c.2139+27G>A Single submitter
- c.2256+221T>C Single submitter
- c.2341+12G>C Single submitter oculocerebrorenal syndrome
- c.239-3dup Single submitter oculocerebrorenal syndrome
- c.2469+202A>G Single submitter
- c.40-119GGGCG[2] Single submitter
- c.40-82_40-81insC Single submitter
- c.439+10del Single submitter oculocerebrorenal syndrome
- p.Arg361= Single submitter oculocerebrorenal syndrome
- p.Arg886= Single submitter oculocerebrorenal syndrome
- p.Asp465= Single submitter oculocerebrorenal syndrome
- p.Leu502= Single submitter oculocerebrorenal syndrome
- p.Ser854= Single submitter oculocerebrorenal syndrome
- p.Tyr288= Single submitter oculocerebrorenal syndrome
- p.Tyr477= Single submitter oculocerebrorenal syndrome
Benign/Likely benign 24
- c.1602+11G>A Multiple submitters Nephrolithiasis/nephrocalcinosis
- c.200-11dup Multiple submitters oculocerebrorenal syndrome
- c.2116-8G>T Multiple submitters oculocerebrorenal syndrome
- c.2116-9C>T Multiple submitters oculocerebrorenal syndrome
- c.239-20T>C Multiple submitters oculocerebrorenal syndrome
- c.2582-9G>A Multiple submitters oculocerebrorenal syndrome
- c.561-7T>A Multiple submitters oculocerebrorenal syndrome
- c.939+8G>A Multiple submitters oculocerebrorenal syndrome
- c.940-12C>T Multiple submitters oculocerebrorenal syndrome
- p.Arg35= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Arg95His Multiple submitters oculocerebrorenal syndrome
- p.Asp431Asn Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Glu125Asp Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Gly304= Multiple submitters oculocerebrorenal syndrome
- p.Gly726Val Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.His51Arg Multiple submitters oculocerebrorenal syndrome
- p.Leu108= Multiple submitters oculocerebrorenal syndrome
- p.Leu376= Multiple submitters oculocerebrorenal syndrome
- p.Pro407= Multiple submitters oculocerebrorenal syndrome
- p.Ser898= Multiple submitters oculocerebrorenal syndrome
- p.Thr14Ile Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Tyr805= Multiple submitters Dent disease type 2
- p.Val464Ala Multiple submitters Nephrolithiasis/nephrocalcinosis
- c.349+14C>T No assertion criteria
Likely benign 348
Showing the top 300 by review status; the full set is in the sitemap.
- c.120-17G>A Multiple submitters oculocerebrorenal syndrome
- c.1244+8G>T Multiple submitters oculocerebrorenal syndrome
- c.1357-14C>T Multiple submitters oculocerebrorenal syndrome
- c.1603-12A>G Multiple submitters oculocerebrorenal syndrome
- c.1603-14A>G Multiple submitters oculocerebrorenal syndrome
- c.1880-98G>A Multiple submitters
- c.2256+132C>T Multiple submitters
- c.2581+15T>G Multiple submitters oculocerebrorenal syndrome
- c.2581+16G>A Multiple submitters oculocerebrorenal syndrome
- c.350-14C>T Multiple submitters oculocerebrorenal syndrome
- c.350-5T>C Multiple submitters Nephrolithiasis/nephrocalcinosis
- c.39+8C>T Multiple submitters oculocerebrorenal syndrome
- c.*190T>C Multiple submitters
- p.Ala117= Multiple submitters oculocerebrorenal syndrome
- p.Ala395Val Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Ala529= Multiple submitters oculocerebrorenal syndrome
- p.Arg544Gln Multiple submitters oculocerebrorenal syndrome
- p.Arg95Cys Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Gln315= Multiple submitters oculocerebrorenal syndrome
- p.Glu296= Multiple submitters oculocerebrorenal syndrome
- p.Gly147= Multiple submitters oculocerebrorenal syndrome
- p.Gly37Arg Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Ile553Val Multiple submitters oculocerebrorenal syndrome
- p.Leu409= Multiple submitters oculocerebrorenal syndrome
- p.Leu72= Multiple submitters oculocerebrorenal syndrome
- p.Lys139= Multiple submitters oculocerebrorenal syndrome
- p.Phe450= Multiple submitters oculocerebrorenal syndrome
- p.Phe473= Multiple submitters oculocerebrorenal syndrome
- p.Pro829= Multiple submitters oculocerebrorenal syndrome
- p.Ser522= Multiple submitters oculocerebrorenal syndrome
- p.Thr368= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Thr458= Multiple submitters oculocerebrorenal syndrome
- p.Thr629= Multiple submitters oculocerebrorenal syndrome
- p.Tyr748= Multiple submitters oculocerebrorenal syndrome
- c.1056+19G>T Single submitter oculocerebrorenal syndrome
- c.1057-13C>A Single submitter oculocerebrorenal syndrome
- c.1057-19T>C Single submitter oculocerebrorenal syndrome
- c.1057-6T>G Single submitter oculocerebrorenal syndrome
- c.119+10dup Single submitter
- c.119+11A>G Single submitter oculocerebrorenal syndrome
- c.119+12C>T Single submitter oculocerebrorenal syndrome
- c.119+8dup Single submitter oculocerebrorenal syndrome
- c.120-5C>T Single submitter oculocerebrorenal syndrome
- c.1244+13_1244+15del Single submitter
- c.1244+13_1244+38del Single submitter oculocerebrorenal syndrome
- c.1244+13_1244+41delinsAAA Single submitter oculocerebrorenal syndrome
- c.1244+14T>C Single submitter oculocerebrorenal syndrome
- c.1244+17_1244+39del Single submitter
- c.1244+20_1244+26dup Single submitter oculocerebrorenal syndrome
- c.1244+7G>C Single submitter
- c.1245-18C>T Single submitter oculocerebrorenal syndrome
- c.1245-7T>C Single submitter oculocerebrorenal syndrome
- c.1356+10G>A Single submitter oculocerebrorenal syndrome
- c.1356+17T>C Single submitter oculocerebrorenal syndrome
- c.1356+7A>G Single submitter oculocerebrorenal syndrome
- c.1357-10C>G Single submitter oculocerebrorenal syndrome
- c.1466+12A>G Single submitter oculocerebrorenal syndrome
- c.1466+16C>T Single submitter oculocerebrorenal syndrome
- c.1466+20C>T Single submitter oculocerebrorenal syndrome
- c.1467-11T>G Single submitter oculocerebrorenal syndrome
- c.1467-12_1467-9dup Single submitter oculocerebrorenal syndrome
- c.1467-16del Single submitter oculocerebrorenal syndrome
- c.1467-16G>A Single submitter oculocerebrorenal syndrome
- c.1467-19C>T Single submitter oculocerebrorenal syndrome
- c.1467-247G>A Single submitter
- c.1602+15G>T Single submitter oculocerebrorenal syndrome
- c.1602+17A>T Single submitter oculocerebrorenal syndrome
- c.1602+7A>G Single submitter oculocerebrorenal syndrome
- c.1603-13C>T Single submitter oculocerebrorenal syndrome
- c.1603-16A>T Single submitter oculocerebrorenal syndrome
- c.1603-20G>A Single submitter oculocerebrorenal syndrome
- c.1603-4T>C Single submitter oculocerebrorenal syndrome
- c.1603-8T>G Single submitter oculocerebrorenal syndrome
- c.1713+15A>G Single submitter oculocerebrorenal syndrome
- c.1713+18A>G Single submitter oculocerebrorenal syndrome
- c.1713+6C>G Single submitter oculocerebrorenal syndrome
- c.1713+7A>G Single submitter oculocerebrorenal syndrome
- c.1714-10T>C Single submitter oculocerebrorenal syndrome
- c.1714-14C>T Single submitter oculocerebrorenal syndrome
- c.1714-161A>G Single submitter
- c.1714-17T>C Single submitter oculocerebrorenal syndrome
- c.1714-18C>G Single submitter oculocerebrorenal syndrome
- c.1714-18C>T Single submitter oculocerebrorenal syndrome
- c.1714-4C>T Single submitter oculocerebrorenal syndrome
- c.1714-6C>T Single submitter oculocerebrorenal syndrome
- c.1714-7T>C Single submitter oculocerebrorenal syndrome
- c.1714-8T>C Single submitter oculocerebrorenal syndrome
- c.1714-9del Single submitter oculocerebrorenal syndrome
- c.1879+10C>T Single submitter oculocerebrorenal syndrome
- c.1879+11C>T Single submitter oculocerebrorenal syndrome
- c.1879+19A>G Single submitter oculocerebrorenal syndrome
- c.1879+20T>G Single submitter oculocerebrorenal syndrome
- c.1880-19A>G Single submitter oculocerebrorenal syndrome
- c.1880-7A>G Single submitter oculocerebrorenal syndrome
- c.1880-8C>T Single submitter oculocerebrorenal syndrome
- c.1880-9A>C Single submitter oculocerebrorenal syndrome
- c.199+10T>C Single submitter oculocerebrorenal syndrome
- c.199+20A>G Single submitter oculocerebrorenal syndrome
- c.199+32A>G Single submitter
- c.200-11del Single submitter
- c.200-11T>C Single submitter oculocerebrorenal syndrome
- c.200-4T>C Single submitter oculocerebrorenal syndrome
- c.2115+15A>G Single submitter oculocerebrorenal syndrome
- c.2115+20A>G Single submitter oculocerebrorenal syndrome
- c.2116-11T>A Single submitter oculocerebrorenal syndrome
- c.2116-14T>C Single submitter oculocerebrorenal syndrome
- c.2116-16_2116-12del Single submitter oculocerebrorenal syndrome
- c.2116-16C>T Single submitter oculocerebrorenal syndrome
- c.2116-76T>C Single submitter
- c.2116-8G>A Single submitter oculocerebrorenal syndrome
- c.2139+13A>G Single submitter oculocerebrorenal syndrome
- c.2139+17G>A Single submitter oculocerebrorenal syndrome
- c.2139+20G>A Single submitter oculocerebrorenal syndrome
- c.2139+7C>T Single submitter oculocerebrorenal syndrome
- c.2139+9A>G Single submitter oculocerebrorenal syndrome
- c.2140-12T>C Single submitter oculocerebrorenal syndrome
- c.2140-18T>C Single submitter oculocerebrorenal syndrome
- c.2256+10_2256+11del Single submitter oculocerebrorenal syndrome
- c.2256+12T>C Single submitter oculocerebrorenal syndrome
- c.2256+17del Single submitter oculocerebrorenal syndrome
- c.2256+18T>C Single submitter oculocerebrorenal syndrome
- c.2256+20C>T Single submitter oculocerebrorenal syndrome
- c.2256+214G>T Single submitter
- c.2256+95C>A Single submitter
- c.2257-20C>A Single submitter oculocerebrorenal syndrome
- c.2257-3dup Single submitter oculocerebrorenal syndrome
- c.2341+11C>T Single submitter oculocerebrorenal syndrome
- c.2341+12G>A Single submitter oculocerebrorenal syndrome
- c.2341+17A>G Single submitter oculocerebrorenal syndrome
- c.238+17A>G Single submitter oculocerebrorenal syndrome
- c.238+19G>A Single submitter oculocerebrorenal syndrome
- c.239-4T>A Single submitter oculocerebrorenal syndrome
- c.239-7T>C Single submitter oculocerebrorenal syndrome
- c.2469+12T>C Single submitter oculocerebrorenal syndrome
- c.2469+13G>A Single submitter oculocerebrorenal syndrome
- c.2469+17T>C Single submitter oculocerebrorenal syndrome
- c.2469+17T>G Single submitter oculocerebrorenal syndrome
- c.2469+18G>A Single submitter oculocerebrorenal syndrome
- c.2469+8C>T Single submitter oculocerebrorenal syndrome
- c.2470-14A>G Single submitter oculocerebrorenal syndrome
- c.2470-16C>G Single submitter oculocerebrorenal syndrome
- c.2470-9T>A Single submitter oculocerebrorenal syndrome
- c.2581+19A>C Single submitter oculocerebrorenal syndrome
- c.2582-10C>T Single submitter oculocerebrorenal syndrome
- c.2582-18C>T Single submitter oculocerebrorenal syndrome
- c.349+12C>T Single submitter oculocerebrorenal syndrome
- c.349+16G>A Single submitter oculocerebrorenal syndrome
- c.349+17C>T Single submitter oculocerebrorenal syndrome
- c.349+18G>A Single submitter oculocerebrorenal syndrome
- c.350-10A>C Single submitter oculocerebrorenal syndrome
- c.350-9TC[2] Single submitter oculocerebrorenal syndrome
- c.39+14A>C Single submitter oculocerebrorenal syndrome
- c.39+15G>A Single submitter oculocerebrorenal syndrome
- c.39+15G>C Single submitter oculocerebrorenal syndrome
- c.39+16_39+19del Single submitter oculocerebrorenal syndrome
- c.39+16A>C Single submitter oculocerebrorenal syndrome
- c.39+17A>C Single submitter oculocerebrorenal syndrome
- c.39+17A>G Single submitter oculocerebrorenal syndrome
- c.39+18G>C Single submitter oculocerebrorenal syndrome
- c.39+19G>A Single submitter oculocerebrorenal syndrome
- c.39+20G>C Single submitter oculocerebrorenal syndrome
- c.39+9C>G Single submitter oculocerebrorenal syndrome
- c.40-11A>G Single submitter oculocerebrorenal syndrome
- c.40-20C>T Single submitter oculocerebrorenal syndrome
- c.40-81_40-80dup Single submitter
- c.40-8G>A Single submitter oculocerebrorenal syndrome
- c.40-8G>T Single submitter oculocerebrorenal syndrome
- c.40-9C>T Single submitter oculocerebrorenal syndrome
- c.439+10A>T Single submitter oculocerebrorenal syndrome
- c.439+11G>T Single submitter oculocerebrorenal syndrome
- c.439+15C>G Single submitter oculocerebrorenal syndrome
- c.439+15C>T Single submitter oculocerebrorenal syndrome
- c.439+7A>G Single submitter oculocerebrorenal syndrome
- c.439+9A>T Single submitter oculocerebrorenal syndrome
- c.560+10A>T Single submitter oculocerebrorenal syndrome
- c.560+19C>T Single submitter oculocerebrorenal syndrome
- c.560+20A>G Single submitter oculocerebrorenal syndrome
- c.560+22_560+23del Single submitter oculocerebrorenal syndrome
- c.560+8C>G Single submitter oculocerebrorenal syndrome
- c.560+9C>A Single submitter
- c.561-13A>G Single submitter oculocerebrorenal syndrome
- c.561-17T>C Single submitter oculocerebrorenal syndrome
- c.722+11C>T Single submitter oculocerebrorenal syndrome
- c.722+17C>T Single submitter oculocerebrorenal syndrome
- c.722+20C>G Single submitter oculocerebrorenal syndrome
- c.723-14G>A Single submitter oculocerebrorenal syndrome
- c.723-15C>T Single submitter oculocerebrorenal syndrome
- c.824+13T>C Single submitter oculocerebrorenal syndrome
- c.825-11T>G Single submitter oculocerebrorenal syndrome
- c.825-19A>C Single submitter oculocerebrorenal syndrome
- c.825-20C>T Single submitter oculocerebrorenal syndrome
- c.939+10A>G Single submitter oculocerebrorenal syndrome
- c.939+18A>G Single submitter oculocerebrorenal syndrome
- c.939+7C>T Single submitter oculocerebrorenal syndrome
- c.939+8G>T Single submitter oculocerebrorenal syndrome
- c.940-11G>T Single submitter oculocerebrorenal syndrome
- c.940-4A>G Single submitter oculocerebrorenal syndrome
- p.Ala114= Single submitter
- p.Ala328= Single submitter oculocerebrorenal syndrome
- p.Ala33= Single submitter oculocerebrorenal syndrome
- p.Ala395= Single submitter oculocerebrorenal syndrome
- p.Ala432= Single submitter oculocerebrorenal syndrome
- p.Ala462= Single submitter oculocerebrorenal syndrome
- p.Ala686= Single submitter oculocerebrorenal syndrome
- p.Ala788= Single submitter oculocerebrorenal syndrome
- p.Ala841= Single submitter oculocerebrorenal syndrome
- p.Arg190Cys Single submitter oculocerebrorenal syndrome
- p.Arg190Leu Single submitter Nephrolithiasis/nephrocalcinosis
- p.Arg25= Single submitter oculocerebrorenal syndrome
- p.Arg385= Single submitter oculocerebrorenal syndrome
- p.Arg485Gln Single submitter oculocerebrorenal syndrome
- p.Arg493= Single submitter oculocerebrorenal syndrome
- p.Arg542= Single submitter oculocerebrorenal syndrome
- p.Arg556= Single submitter oculocerebrorenal syndrome
- p.Arg570= Single submitter oculocerebrorenal syndrome
- p.Arg819= Single submitter oculocerebrorenal syndrome
- p.Arg830= Single submitter oculocerebrorenal syndrome
- p.Arg844Gln Single submitter oculocerebrorenal syndrome
- p.Arg92= Single submitter oculocerebrorenal syndrome
- p.Asn213= Single submitter oculocerebrorenal syndrome
- p.Asn236= Single submitter oculocerebrorenal syndrome
- p.Asn263= Single submitter oculocerebrorenal syndrome
- p.Asn267= Single submitter oculocerebrorenal syndrome
- p.Asn267Ser Single submitter oculocerebrorenal syndrome
- p.Asn366= Single submitter oculocerebrorenal syndrome
- p.Asn440= Single submitter oculocerebrorenal syndrome
- p.Asn467Tyr Single submitter oculocerebrorenal syndrome
- p.Asn507= Single submitter oculocerebrorenal syndrome
- p.Asn509Thr Single submitter oculocerebrorenal syndrome
- p.Asp128= Single submitter oculocerebrorenal syndrome
- p.Asp137= Single submitter oculocerebrorenal syndrome
- p.Asp270= Single submitter oculocerebrorenal syndrome
- p.Asp443= Single submitter oculocerebrorenal syndrome
- p.Asp451= Single submitter oculocerebrorenal syndrome
- p.Asp607= Single submitter oculocerebrorenal syndrome
- p.Asp631Glu Single submitter oculocerebrorenal syndrome
- p.Asp635= Single submitter oculocerebrorenal syndrome
- p.Asp704= Single submitter oculocerebrorenal syndrome
- p.Asp89His Single submitter oculocerebrorenal syndrome
- p.Cys104Ser Single submitter oculocerebrorenal syndrome
- p.Cys370= Single submitter oculocerebrorenal syndrome
- p.Cys811= Single submitter
- p.Gln218= Single submitter oculocerebrorenal syndrome
- p.Gln277= Single submitter oculocerebrorenal syndrome
- p.Gln38= Single submitter oculocerebrorenal syndrome
- p.Gln588= Single submitter oculocerebrorenal syndrome
- p.Gln733= Single submitter oculocerebrorenal syndrome
- p.Gln767= Single submitter oculocerebrorenal syndrome
- p.Gln809= Single submitter oculocerebrorenal syndrome
- p.Gln87= Single submitter
- p.Glu198= Single submitter oculocerebrorenal syndrome
- p.Glu220= Single submitter oculocerebrorenal syndrome
- p.Glu26= Single submitter oculocerebrorenal syndrome
- p.Glu278= Single submitter oculocerebrorenal syndrome
- p.Glu575= Single submitter oculocerebrorenal syndrome
- p.Glu621= Single submitter oculocerebrorenal syndrome
- p.Glu69= Single submitter oculocerebrorenal syndrome
- p.Glu712= Single submitter oculocerebrorenal syndrome
- p.Glu845= Single submitter oculocerebrorenal syndrome
- p.Glu851= Single submitter oculocerebrorenal syndrome
- p.Gly172= Single submitter oculocerebrorenal syndrome
- p.Gly321= Single submitter oculocerebrorenal syndrome
- p.Gly490= Single submitter oculocerebrorenal syndrome
- p.Gly649= Single submitter oculocerebrorenal syndrome
- p.His365= Single submitter oculocerebrorenal syndrome
- p.His414= Single submitter oculocerebrorenal syndrome
- p.His61= Single submitter oculocerebrorenal syndrome
- p.Ile226= Single submitter oculocerebrorenal syndrome
- p.Ile274Val Single submitter oculocerebrorenal syndrome
- p.Ile371= Single submitter oculocerebrorenal syndrome
- p.Ile43= Single submitter oculocerebrorenal syndrome
- p.Ile55= Single submitter oculocerebrorenal syndrome
- p.Ile645= Single submitter
- p.Ile738= Single submitter oculocerebrorenal syndrome
- p.Leu222= Single submitter oculocerebrorenal syndrome
- p.Leu24= Single submitter oculocerebrorenal syndrome
- p.Leu319= Single submitter oculocerebrorenal syndrome
- p.Leu427= Single submitter oculocerebrorenal syndrome
- p.Leu444Phe Single submitter oculocerebrorenal syndrome
- p.Leu447= Single submitter oculocerebrorenal syndrome
- p.Leu453= Single submitter oculocerebrorenal syndrome
- p.Leu657= Single submitter oculocerebrorenal syndrome
- p.Leu669= Single submitter oculocerebrorenal syndrome
- p.Leu702= Single submitter oculocerebrorenal syndrome
- p.Leu711= Single submitter oculocerebrorenal syndrome
- p.Leu711Arg Single submitter oculocerebrorenal syndrome
- p.Leu717= Single submitter oculocerebrorenal syndrome
- p.Leu718= Single submitter oculocerebrorenal syndrome
- p.Leu745= Single submitter
- p.Leu772= Single submitter oculocerebrorenal syndrome
- p.Leu798= Single submitter oculocerebrorenal syndrome
- p.Leu843= Single submitter oculocerebrorenal syndrome
- p.Leu869= Single submitter oculocerebrorenal syndrome
- p.Lys106= Single submitter oculocerebrorenal syndrome
- p.Lys135= Single submitter oculocerebrorenal syndrome
- p.Lys141= Single submitter oculocerebrorenal syndrome
- p.Lys224Arg Single submitter oculocerebrorenal syndrome
- p.Lys460= Single submitter oculocerebrorenal syndrome
- p.Lys472= Single submitter oculocerebrorenal syndrome
- p.Lys491= Single submitter
Uncertain significance 265
- c.1466+4A>G Multiple submitters oculocerebrorenal syndrome
- c.1602+5A>G Multiple submitters oculocerebrorenal syndrome
- c.1713+3G>A Multiple submitters oculocerebrorenal syndrome
- c.238+3G>A Multiple submitters oculocerebrorenal syndrome
- c.238+6T>C Multiple submitters oculocerebrorenal syndrome
- p.Arg175Trp Multiple submitters oculocerebrorenal syndrome ⚠
- p.Arg230Gln Multiple submitters ⚠
- p.Arg25Pro Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Arg457His Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Arg819Gln Multiple submitters oculocerebrorenal syndrome ⚠
- p.Arg819Pro Multiple submitters oculocerebrorenal syndrome ⚠
- p.Arg886His Multiple submitters oculocerebrorenal syndrome ⚠
- p.Asn154Ser Multiple submitters oculocerebrorenal syndrome ⚠
- p.Asn196Asp Multiple submitters oculocerebrorenal syndrome ⚠
- p.Asn196Thr Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Asn267Asp Multiple submitters oculocerebrorenal syndrome ⚠
- p.Asn366Ser Multiple submitters oculocerebrorenal syndrome ⚠
- p.Cys333Phe Multiple submitters oculocerebrorenal syndrome ⚠
- p.Glu628Lys Multiple submitters oculocerebrorenal syndrome ⚠
- p.Gly150Arg Multiple submitters oculocerebrorenal syndrome ⚠
- p.Gly505Arg Multiple submitters oculocerebrorenal syndrome ⚠
- p.Gly534= Multiple submitters Dent disease type 2
- p.Ile55Leu Multiple submitters oculocerebrorenal syndrome ⚠
- p.Ile55Thr Multiple submitters oculocerebrorenal syndrome ⚠
- p.Ile55Val Multiple submitters oculocerebrorenal syndrome ⚠
- p.Leu209Phe Multiple submitters oculocerebrorenal syndrome ⚠
- p.Leu325del Multiple submitters oculocerebrorenal syndrome
- p.Lys312Glu Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Lys478Arg Multiple submitters oculocerebrorenal syndrome ⚠
- p.Lys701Arg Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Lys713Arg Multiple submitters oculocerebrorenal syndrome ⚠
- p.Met187Ile Multiple submitters oculocerebrorenal syndrome ⚠
- p.Pro260_Trp261insThr Multiple submitters Dent disease type 2
- p.Pro698Arg Multiple submitters oculocerebrorenal syndrome
- p.Ser642Pro Multiple submitters oculocerebrorenal syndrome ⚠
- p.Ser648Leu Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Thr14Ala Multiple submitters oculocerebrorenal syndrome ⚠
- p.Thr31Ile Multiple submitters Dent disease type 2 ⚠
- p.Thr670Ile Multiple submitters oculocerebrorenal syndrome ⚠
- p.Thr865Ala Multiple submitters oculocerebrorenal syndrome ⚠
- p.Tyr288Ser Multiple submitters oculocerebrorenal syndrome ⚠
- p.Val344Ala Multiple submitters oculocerebrorenal syndrome ⚠
- p.Val630Ala Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- c.1057-7C>G Single submitter oculocerebrorenal syndrome
- c.119+4A>G Single submitter
- c.120-3T>C Single submitter oculocerebrorenal syndrome
- c.1467-3C>G Single submitter oculocerebrorenal syndrome
- c.1603-14A>T Single submitter oculocerebrorenal syndrome
- c.200-3del Single submitter oculocerebrorenal syndrome
- c.2115+4A>G Single submitter oculocerebrorenal syndrome
- c.2139+3A>G Single submitter oculocerebrorenal syndrome
- c.2139+4A>G Single submitter
- c.2140-5A>G Single submitter oculocerebrorenal syndrome
- c.2256+3A>G Single submitter
- c.2256+4A>G Single submitter oculocerebrorenal syndrome
- c.2256+6T>C Single submitter oculocerebrorenal syndrome
- c.2342-10G>A Single submitter oculocerebrorenal syndrome
- c.238+3_238+6del Single submitter oculocerebrorenal syndrome
- c.2469+4G>T Single submitter oculocerebrorenal syndrome
- c.2470-4A>G Single submitter oculocerebrorenal syndrome
- c.2581+4A>G Single submitter
- c.2581+8T>C Single submitter
- c.2582-3T>A Single submitter oculocerebrorenal syndrome
- c.349+6T>C Single submitter oculocerebrorenal syndrome
- c.350-6C>G Single submitter oculocerebrorenal syndrome
- c.350-7T>A Single submitter oculocerebrorenal syndrome
- c.439+6A>G Single submitter
- c.440-10T>A Single submitter oculocerebrorenal syndrome
- c.561-8T>G Single submitter oculocerebrorenal syndrome
- c.722+4A>G Single submitter oculocerebrorenal syndrome
- c.825-8T>C Single submitter Nephrolithiasis/nephrocalcinosis
- p.Ala114Thr Single submitter ⚠
- p.Ala117Val Single submitter oculocerebrorenal syndrome ⚠
- p.Ala29Val Single submitter oculocerebrorenal syndrome ⚠
- p.Ala309Val Single submitter ⚠
- p.Ala328Thr Single submitter oculocerebrorenal syndrome ⚠
- p.Ala328Val Single submitter oculocerebrorenal syndrome ⚠
- p.Ala432Thr Single submitter ⚠
- p.Ala496Val Single submitter oculocerebrorenal syndrome ⚠
- p.Ala529Asp Single submitter oculocerebrorenal syndrome ⚠
- p.Ala529Ser Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ala529Thr Single submitter oculocerebrorenal syndrome ⚠
- p.Ala749Thr Single submitter ⚠
- p.Ala861Ser Single submitter oculocerebrorenal syndrome ⚠
- p.Arg175Gly Single submitter oculocerebrorenal syndrome ⚠
- p.Arg190His Single submitter oculocerebrorenal syndrome ⚠
- p.Arg190Pro Single submitter oculocerebrorenal syndrome ⚠
- p.Arg207Gln Single submitter oculocerebrorenal syndrome ⚠
- p.Arg207Trp Single submitter oculocerebrorenal syndrome
- p.Arg219Gln Single submitter oculocerebrorenal syndrome ⚠
- p.Arg219Leu Single submitter ⚠
- p.Arg219Trp Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Arg241Lys Single submitter oculocerebrorenal syndrome ⚠
- p.Arg329Lys Single submitter oculocerebrorenal syndrome ⚠
- p.Arg337His Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Arg361Ile Single submitter oculocerebrorenal syndrome ⚠
- p.Arg457Cys Single submitter oculocerebrorenal syndrome ⚠
- p.Arg457Pro Single submitter oculocerebrorenal syndrome ⚠
- p.Arg485Pro Single submitter oculocerebrorenal syndrome ⚠
- p.Arg485Trp Single submitter oculocerebrorenal syndrome ⚠
- p.Arg552Cys Single submitter ⚠
- p.Arg552His Single submitter oculocerebrorenal syndrome ⚠
- p.Arg556Gly Single submitter oculocerebrorenal syndrome ⚠
- p.Arg580Trp Single submitter oculocerebrorenal syndrome ⚠
- p.Arg663Gln Single submitter ⚠
- p.Arg663Leu Single submitter oculocerebrorenal syndrome ⚠
- p.Arg689Cys Single submitter ⚠
- p.Arg695Gln Single submitter ⚠
- p.Arg810Gln Single submitter oculocerebrorenal syndrome ⚠
- p.Arg819Trp Single submitter oculocerebrorenal syndrome ⚠
- p.Arg822Gln Single submitter ⚠
- p.Arg884del Single submitter Dent disease type 2
- p.Asn204Ser Single submitter ⚠
- p.Asn248Ser Single submitter oculocerebrorenal syndrome ⚠
- p.Asn403Thr Single submitter ⚠
- p.Asn433Ser Single submitter ⚠
- p.Asn454Thr Single submitter oculocerebrorenal syndrome ⚠
- p.Asn467Asp Single submitter ⚠
- p.Asn467Lys Single submitter oculocerebrorenal syndrome ⚠
- p.Asn834Asp Single submitter
- p.Asn856Ser Single submitter ⚠
- p.Asn874Asp Single submitter oculocerebrorenal syndrome ⚠
- p.Asn874Ser Single submitter oculocerebrorenal syndrome ⚠
- p.Asp100Asn Single submitter oculocerebrorenal syndrome ⚠
- p.Asp100Val Single submitter ⚠
- p.Asp255Asn Single submitter oculocerebrorenal syndrome ⚠
- p.Asp270Gly Single submitter oculocerebrorenal syndrome ⚠
- p.Asp422Gly Single submitter ⚠
- p.Asp431Gly Single submitter ⚠
- p.Asp451Asn Single submitter oculocerebrorenal syndrome ⚠
- p.Asp465His Single submitter oculocerebrorenal syndrome ⚠
- p.Asp480Val Single submitter oculocerebrorenal syndrome ⚠
- p.Asp651Asn Single submitter
- p.Asp708= Single submitter
- p.Asp770_Cys771insAsp Single submitter
- p.Asp773Glu Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Asp817Tyr Single submitter oculocerebrorenal syndrome ⚠
- p.Asp901Tyr Single submitter ⚠
- p.Cys428Gly Single submitter oculocerebrorenal syndrome ⚠
- p.Cys804Arg Single submitter oculocerebrorenal syndrome ⚠
- p.Cys831Arg Single submitter oculocerebrorenal syndrome ⚠
- p.Gln115Arg Single submitter oculocerebrorenal syndrome ⚠
- p.Gln199Arg Single submitter oculocerebrorenal syndrome ⚠
- p.Gln452Arg Single submitter oculocerebrorenal syndrome ⚠
- p.Gln456Arg Single submitter oculocerebrorenal syndrome ⚠
- p.Gln456Pro Single submitter oculocerebrorenal syndrome ⚠
- p.Gln594Arg Single submitter oculocerebrorenal syndrome ⚠
- p.Gln879His Single submitter ⚠
- p.Gln879Ter Single submitter oculocerebrorenal syndrome
- p.Glu102Lys Single submitter ⚠
- p.Glu191Gln Single submitter oculocerebrorenal syndrome ⚠
- p.Glu193Gly Single submitter ⚠
- p.Glu220Val Single submitter oculocerebrorenal syndrome ⚠
- p.Glu259Gln Single submitter oculocerebrorenal syndrome ⚠
- p.Glu415Asp Single submitter ⚠
- p.Glu575Asp Single submitter oculocerebrorenal syndrome ⚠
- p.Glu585Gly Single submitter oculocerebrorenal syndrome ⚠
- p.Glu650Lys Single submitter oculocerebrorenal syndrome ⚠
- p.Glu696Lys Single submitter oculocerebrorenal syndrome ⚠
- p.Glu69Val Single submitter oculocerebrorenal syndrome ⚠
- p.Glu753Asp Single submitter oculocerebrorenal syndrome ⚠
- p.Glu764Asp Single submitter oculocerebrorenal syndrome ⚠
- p.Glu806_Leu807delinsAspMet Single submitter oculocerebrorenal syndrome
- p.Glu900Asp Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Gly147Ala Single submitter oculocerebrorenal syndrome ⚠
- p.Gly221Val Single submitter oculocerebrorenal syndrome ⚠
- p.Gly22Ser Single submitter oculocerebrorenal syndrome ⚠
- p.Gly505Glu Single submitter oculocerebrorenal syndrome ⚠
- p.Gly88Glu Single submitter intellectual developmental disorder, autosomal dominant 65 ⚠
- p.His174Tyr Single submitter oculocerebrorenal syndrome ⚠
- p.His306Tyr Single submitter ⚠
- p.His51Gln Single submitter oculocerebrorenal syndrome ⚠
- p.His532Arg Single submitter oculocerebrorenal syndrome ⚠
- p.His61Tyr Single submitter oculocerebrorenal syndrome ⚠
- p.Ile336Phe Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ile336Thr Single submitter ⚠
- p.Ile411Thr Single submitter ⚠
- p.Ile418Thr Single submitter ⚠
- p.Ile42Val Single submitter ⚠
- p.Ile439Val Single submitter ⚠
- p.Ile55Asn Single submitter ⚠
- p.Ile56Thr Single submitter ⚠
- p.Ile56Val Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ile645Val Single submitter ⚠
- p.Ile671Leu Single submitter ⚠
- p.Ile738Met Single submitter oculocerebrorenal syndrome ⚠
- p.Ile769Thr Single submitter ⚠
- p.Ile825Met Single submitter ⚠
- p.Leu262Pro Single submitter ⚠
- p.Leu316Val Single submitter oculocerebrorenal syndrome ⚠
- p.Leu32Val Single submitter oculocerebrorenal syndrome ⚠
- p.Leu406Phe Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Leu448Ser Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Leu605Phe Single submitter oculocerebrorenal syndrome ⚠
- p.Leu615Phe Single submitter oculocerebrorenal syndrome ⚠
- p.Leu634Pro Single submitter ⚠
- p.Leu717Arg Single submitter ⚠
- p.Leu717Phe Single submitter ⚠
- p.Leu792= Single submitter oculocerebrorenal syndrome
- p.Leu863Phe Single submitter oculocerebrorenal syndrome ⚠
- p.Leu863Val Single submitter oculocerebrorenal syndrome ⚠
- p.Leu867Arg Single submitter ⚠
- p.Leu896Phe Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Lys192Glu Single submitter oculocerebrorenal syndrome ⚠
- p.Lys201Glu Single submitter oculocerebrorenal syndrome ⚠
- p.Lys472Asn Single submitter oculocerebrorenal syndrome ⚠
- p.Lys478Glu Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Met206Val Single submitter ⚠
- p.Met299Val Single submitter oculocerebrorenal syndrome ⚠
- p.Met322Ile Single submitter oculocerebrorenal syndrome ⚠
- p.Met349Thr Single submitter ⚠
- p.Met397Lys Single submitter Dent disease type 2 ⚠
- p.Met557Ile Single submitter oculocerebrorenal syndrome ⚠
- p.Met690Ile Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Met761Leu Single submitter oculocerebrorenal syndrome ⚠
- p.Met859Val Single submitter oculocerebrorenal syndrome ⚠
- p.Phe240Cys Single submitter ⚠
- p.Phe894Val Single submitter ⚠
- p.Pro124Ala Single submitter oculocerebrorenal syndrome ⚠
- p.Pro260Ser Single submitter oculocerebrorenal syndrome ⚠
- p.Pro266Ser Single submitter ⚠
- p.Pro407Arg Single submitter oculocerebrorenal syndrome ⚠
- p.Pro407Leu Single submitter oculocerebrorenal syndrome ⚠
- p.Pro735His Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Pro781Ala Single submitter oculocerebrorenal syndrome ⚠
- p.Pro781Ser Single submitter ⚠
- p.Pro871Thr Single submitter OCRL-related disorder ⚠
- p.Pro881Ala Single submitter oculocerebrorenal syndrome ⚠
- p.Ser130Thr Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ser143Pro Single submitter
- p.Ser146Leu Single submitter oculocerebrorenal syndrome ⚠
- p.Ser156Cys Single submitter oculocerebrorenal syndrome ⚠
- p.Ser183Leu Single submitter oculocerebrorenal syndrome ⚠
- p.Ser291Cys Single submitter OCRL-related disorder ⚠
- p.Ser374Cys Single submitter ⚠
- p.Ser568Arg Single submitter oculocerebrorenal syndrome ⚠
- p.Ser568del Single submitter
- p.Ser633Phe Single submitter oculocerebrorenal syndrome ⚠
- p.Ser633Tyr Single submitter oculocerebrorenal syndrome ⚠
- p.Ser709Thr Single submitter oculocerebrorenal syndrome ⚠
- p.Ser716Tyr Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ser775Gly Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ser826Phe Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ter902ArgextTer? Single submitter oculocerebrorenal syndrome
- p.Thr203Asn Single submitter OCRL-related disorder ⚠
- p.Thr205Asn Single submitter oculocerebrorenal syndrome
- p.Thr880Ser Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Tyr234Cys Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Tyr311Cys Single submitter oculocerebrorenal syndrome ⚠
- p.Tyr805Phe Single submitter oculocerebrorenal syndrome ⚠
- p.Val111Ala Single submitter oculocerebrorenal syndrome
- p.Val144Phe Single submitter oculocerebrorenal syndrome ⚠
- p.Val15Leu Single submitter oculocerebrorenal syndrome ⚠
- p.Val249Gly Single submitter oculocerebrorenal syndrome ⚠
- p.Val292Met Single submitter oculocerebrorenal syndrome ⚠
- p.Val372Gly Single submitter oculocerebrorenal syndrome ⚠
- p.Val380Ala Single submitter oculocerebrorenal syndrome
- p.Val380Met Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Val573Ala Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Val643Leu Single submitter oculocerebrorenal syndrome ⚠
- p.Val658Ile Single submitter oculocerebrorenal syndrome ⚠
- p.Val697Ala Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Val721Ile Single submitter oculocerebrorenal syndrome ⚠
- p.Cys370Phe No assertion criteria OCRL-related disorder ⚠
- p.Ser775Asn No assertion criteria OCRL-related disorder ⚠