ITPR1 — 2291 ClinVar variants
All ClinVar germline ITPR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 458 flagged for review →
35 Pathogenic · 14 Pathogenic/Likely pathogenic · 39 Likely pathogenic · 94 Conflicting · 222 Benign · 78 Benign/Likely benign · 769 Likely benign · 1040 Uncertain significance
Full ITPR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 458
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 25
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ITPR1 p.Ala1958Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ITPR1 p.Ala1961Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ITPR1 p.Ala275Thr
Conflicting
Single submitter
spinocerebellar ataxia type 29
-
ITPR1 p.Ala275Val
Conflicting
Single submitter
spinocerebellar ataxia type 29
-
ITPR1 p.Ala911Val
Conflicting
Single submitter
aniridia-cerebellar ataxia-intellectual disability syndrome
-
ITPR1 p.Arg269Gln
Conflicting
Single submitter
ITPR1-related disorders
-
ITPR1 p.Arg36Cys
Conflicting
Single submitter
Inborn genetic diseases
-
ITPR1 p.Arg36His
Conflicting
Single submitter
Inborn genetic diseases
- ITPR1 p.Asn1814Ser Conflicting Single submitter
-
ITPR1 p.Glu2433Lys
Conflicting
Single submitter
spinocerebellar ataxia type 15/16
-
ITPR1 p.Glu246Lys
Conflicting
Single submitter
Inborn genetic diseases
-
ITPR1 p.Gly1779Ser
Conflicting
Single submitter
autosomal dominant cerebellar ataxia
-
ITPR1 p.Gly2492Ser
Conflicting
Single submitter
spinocerebellar ataxia type 15/16
-
ITPR1 p.Gly2550Arg
Conflicting
Single submitter
Inborn genetic diseases
- ITPR1 p.Gly2554Trp Conflicting Single submitter
-
ITPR1 p.Leu605Val
Conflicting
Single submitter
spinocerebellar ataxia type 29
-
ITPR1 p.Pro1059Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ITPR1 p.Ser2441Asn
Conflicting
Single submitter
Inborn genetic diseases
- ITPR1 p.Ser277Gly Conflicting Single submitter
-
ITPR1 p.Ser278Leu
Conflicting
Single submitter
aniridia-cerebellar ataxia-intellectual disability syndrome
-
ITPR1 p.Thr1165Met
Conflicting
Single submitter
Inborn genetic diseases
-
ITPR1 p.Thr252Ile
Conflicting
Single submitter
spinocerebellar ataxia type 29
-
ITPR1 p.Thr310Met
Conflicting
Single submitter
Inborn genetic diseases
-
ITPR1 p.Val1492Ile
Conflicting
Single submitter
Inborn genetic diseases
-
ITPR1 p.Val2546Met
Conflicting
Single submitter
spinocerebellar ataxia type 15/16
Predictors lean, ClinVar uncertain 385
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 385
- ITPR1 p.Ala1220Thr Uncertain significance Multiple submitters
-
ITPR1 p.Ala1222Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Ala1557Thr Uncertain significance Multiple submitters
-
ITPR1 p.Ala1930Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Ala1934Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Ala1956Val Uncertain significance Multiple submitters
-
ITPR1 p.Ala1969Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Ala19Val Uncertain significance Multiple submitters
-
ITPR1 p.Ala2202Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Ala968Thr Uncertain significance Multiple submitters
- ITPR1 p.Ala968Val Uncertain significance Multiple submitters
-
ITPR1 p.Arg1009Gln
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 15/16
- ITPR1 p.Arg1072His Uncertain significance Multiple submitters
- ITPR1 p.Arg1095Trp Uncertain significance Multiple submitters
-
ITPR1 p.Arg1192Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Arg1216Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Arg1216Trp
Uncertain significance
Multiple submitters
ITPR1-related disorder
- ITPR1 p.Arg1369Pro Uncertain significance Multiple submitters
- ITPR1 p.Arg1372Trp Uncertain significance Multiple submitters
- ITPR1 p.Arg1374Trp Uncertain significance Multiple submitters
-
ITPR1 p.Arg148Lys
Uncertain significance
Multiple submitters
aniridia-cerebellar ataxia-intellectual disability syndrome
-
ITPR1 p.Arg1547Trp
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 15/16
-
ITPR1 p.Arg1871Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Arg1997Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Arg2342Trp Uncertain significance Multiple submitters
- ITPR1 p.Arg2444Leu Uncertain significance Multiple submitters
- ITPR1 p.Arg2519Gly Uncertain significance Multiple submitters
- ITPR1 p.Arg293Gln Uncertain significance Multiple submitters
- ITPR1 p.Arg626Gly Uncertain significance Multiple submitters
- ITPR1 p.Asn1033Ser Uncertain significance Multiple submitters
-
ITPR1 p.Asn1298Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Asn1770Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Asp1413His Uncertain significance Multiple submitters
-
ITPR1 p.Asp1945Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Asp2113Asn Uncertain significance Multiple submitters
-
ITPR1 p.Asp34Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Asp543Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Cys2052Ser Uncertain significance Multiple submitters
- ITPR1 p.Cys61Ser Uncertain significance Multiple submitters
-
ITPR1 p.Glu1055Lys
Uncertain significance
Multiple submitters
ITPR1-related disorder
- ITPR1 p.Glu2050Lys Uncertain significance Multiple submitters
-
ITPR1 p.Glu2128Val
Uncertain significance
Multiple submitters
autosomal dominant cerebellar ataxia
-
ITPR1 p.Glu2314Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Gly1024Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Gly1219Asp Uncertain significance Multiple submitters
- ITPR1 p.Gly1754Glu Uncertain significance Multiple submitters
-
ITPR1 p.Gly1785Ala
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 15/16
- ITPR1 p.Gly2357Arg Uncertain significance Multiple submitters
- ITPR1 p.His2417Arg Uncertain significance Multiple submitters
- ITPR1 p.Ile121Phe Uncertain significance Multiple submitters
-
ITPR1 p.Ile1277Asn
Uncertain significance
Multiple submitters
aniridia-cerebellar ataxia-intellectual disability syndrome
-
ITPR1 p.Ile1705Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Ile2341Val Uncertain significance Multiple submitters
- ITPR1 p.Leu1093Phe Uncertain significance Multiple submitters
- ITPR1 p.Leu2092Phe Uncertain significance Multiple submitters
- ITPR1 p.Lys1174Asn Uncertain significance Multiple submitters
- ITPR1 p.Lys1893Arg Uncertain significance Multiple submitters
-
ITPR1 p.Lys2229Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Met1283Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Met1793Val Uncertain significance Multiple submitters
-
ITPR1 p.Met2124Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Pro1084Leu
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 15/16
-
ITPR1 p.Pro1411Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Ser1027Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Ser1032Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Ser1482Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Ser1799Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Ser2180Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Ser2318Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Thr1069Ile
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 15/16
-
ITPR1 p.Thr1498Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Thr1913Pro Uncertain significance Multiple submitters
- ITPR1 p.Thr216Ile Uncertain significance Multiple submitters
- ITPR1 p.Thr2528Met Uncertain significance Multiple submitters
-
ITPR1 p.Thr2718Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Tyr844Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Val1034Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Val1353Met Uncertain significance Multiple submitters
- ITPR1 p.Val1756Ala Uncertain significance Multiple submitters
-
ITPR1 p.Val2273Met
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 29
- ITPR1 p.Val414Met Uncertain significance Multiple submitters
- ITPR1 p.Val730Ile Uncertain significance Multiple submitters
-
ITPR1 p.Ala1089Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITPR1 p.Ala1220Val
Uncertain significance
Single submitter
autosomal dominant cerebellar ataxia
- ITPR1 p.Ala1247Asp Uncertain significance Single submitter
- ITPR1 p.Ala1328Thr Uncertain significance Single submitter
- ITPR1 p.Ala1470Val Uncertain significance Single submitter
-
ITPR1 p.Ala1557Ser
Uncertain significance
Single submitter
autosomal dominant cerebellar ataxia
- ITPR1 p.Ala1619Thr Uncertain significance Single submitter
- ITPR1 p.Ala1927Val Uncertain significance Single submitter
- ITPR1 p.Ala1956Thr Uncertain significance Single submitter
- ITPR1 p.Ala19Thr Uncertain significance Single submitter
- ITPR1 p.Ala2076Asp Uncertain significance Single submitter
-
ITPR1 p.Ala2106Val
Uncertain significance
Single submitter
aniridia-cerebellar ataxia-intellectual disability syndrome
-
ITPR1 p.Ala2487Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ITPR1 p.Ala2496Val Uncertain significance Single submitter
- ITPR1 p.Ala280Val Uncertain significance Single submitter
- ITPR1 p.Ala296Glu Uncertain significance Single submitter
- ITPR1 p.Ala296Gly Uncertain significance Single submitter
-
ITPR1 p.Ala296Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ITPR1 p.Ala339Thr Uncertain significance Single submitter
- ITPR1 p.Ala591Ser Uncertain significance Single submitter
- ITPR1 p.Ala655Pro Uncertain significance Single submitter
- ITPR1 p.Ala68Val Uncertain significance Single submitter
- ITPR1 p.Ala742Val Uncertain significance Single submitter
- ITPR1 p.Arg1009Gly Uncertain significance Single submitter
- ITPR1 p.Arg1072Cys Uncertain significance Single submitter
- ITPR1 p.Arg1192Trp Uncertain significance Single submitter
- ITPR1 p.Arg1547Gln Uncertain significance Single submitter
-
ITPR1 p.Arg1556Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ITPR1 p.Arg1604Lys Uncertain significance Single submitter
- ITPR1 p.Arg1751Cys Uncertain significance Single submitter
-
ITPR1 p.Arg1795Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITPR1 p.Arg1871Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ITPR1 p.Arg1979Cys Uncertain significance Single submitter
- ITPR1 p.Arg1979His Uncertain significance Single submitter
- ITPR1 p.Arg1997His Uncertain significance Single submitter
- ITPR1 p.Arg2119Ser Uncertain significance Single submitter
- ITPR1 p.Arg2173Trp Uncertain significance Single submitter
- ITPR1 p.Arg2211Gln Uncertain significance Single submitter
-
ITPR1 p.Arg2279Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ITPR1 p.Arg2309Gln Uncertain significance Single submitter
- ITPR1 p.Arg2351Gln Uncertain significance Single submitter
- ITPR1 p.Arg2552Trp Uncertain significance Single submitter
- ITPR1 p.Arg293Trp Uncertain significance Single submitter
- ITPR1 p.Arg304His Uncertain significance Single submitter
- ITPR1 p.Arg504Ser Uncertain significance Single submitter
- ITPR1 p.Arg506Gln Uncertain significance Single submitter
- ITPR1 p.Arg603Gln Uncertain significance Single submitter
- ITPR1 p.Arg728Gln Uncertain significance Single submitter
-
ITPR1 p.Arg784Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ITPR1 p.Arg947Trp Uncertain significance Single submitter
-
ITPR1 p.Asn107Asp
Uncertain significance
Single submitter
spinocerebellar ataxia type 29
- ITPR1 p.Asn1532Ser Uncertain significance Single submitter
- ITPR1 p.Asn156Asp Uncertain significance Single submitter
-
ITPR1 p.Asn1585Ser
Uncertain significance
Single submitter
spinocerebellar ataxia type 15/16
- ITPR1 p.Asn1822Ile Uncertain significance Single submitter
-
ITPR1 p.Asn2069Ser
Uncertain significance
Single submitter
spinocerebellar ataxia type 29
-
ITPR1 p.Asn2445Lys
Uncertain significance
Single submitter
spinocerebellar ataxia type 29
- ITPR1 p.Asn362Ser Uncertain significance Single submitter
- ITPR1 p.Asn570Ser Uncertain significance Single submitter
- ITPR1 p.Asn64Tyr Uncertain significance Single submitter
- ITPR1 p.Asn964Ser Uncertain significance Single submitter
- ITPR1 p.Asp1357Asn Uncertain significance Single submitter
- ITPR1 p.Asp1826Ala Uncertain significance Single submitter
- ITPR1 p.Asp1870Glu Uncertain significance Single submitter
- ITPR1 p.Asp2152Glu Uncertain significance Single submitter
- ITPR1 p.Asp2191Gly Uncertain significance Single submitter
- ITPR1 p.Asp2191Val Uncertain significance Single submitter
- ITPR1 p.Asp2250Gly Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
-
ITPR1 p.Ala547Thr
Uncertain significance
Multiple submitters
aniridia-cerebellar ataxia-intellectual disability syndrome
-
ITPR1 p.Arg1095Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Arg1417His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Arg784His Uncertain significance Multiple submitters
-
ITPR1 p.Asp231Val
Uncertain significance
Multiple submitters
ITPR1-related disorder
-
ITPR1 p.Glu2478Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Gly531Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Lys1458Asn Uncertain significance Multiple submitters
-
ITPR1 p.Met1339Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Met2394Val Uncertain significance Multiple submitters
-
ITPR1 p.Pro1083Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPR1 p.Ser908Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITPR1 p.Val1416Ile Uncertain significance Multiple submitters
- ITPR1 p.Val498Phe Uncertain significance Multiple submitters
- ITPR1 p.Ala612Thr Uncertain significance Single submitter
- ITPR1 p.Arg1595Leu Uncertain significance Single submitter
- ITPR1 p.Arg1990Gln Uncertain significance Single submitter
-
ITPR1 p.Arg2678Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ITPR1 p.Arg674His Uncertain significance Single submitter
-
ITPR1 p.Arg767Cys
Conflicting
Single submitter
autosomal dominant cerebellar ataxia
- ITPR1 p.Asn1570Lys Uncertain significance Single submitter
-
ITPR1 p.Asp1695Asn
Conflicting
Single submitter
Inborn genetic diseases
- ITPR1 p.Gln1317Pro Uncertain significance Single submitter
- ITPR1 p.Gln260Lys Uncertain significance Single submitter
-
ITPR1 p.Glu1675Asp
Likely benign
Single submitter
spinocerebellar ataxia type 29
- ITPR1 p.Glu1675Lys Uncertain significance Single submitter
- ITPR1 p.Glu2478Gln Uncertain significance Single submitter
- ITPR1 p.Ile121Met Uncertain significance Single submitter
-
ITPR1 p.Ile2374Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ITPR1 p.Leu46Val Uncertain significance Single submitter
- ITPR1 p.Lys1320Glu Uncertain significance Single submitter
- ITPR1 p.Lys1667Asn Uncertain significance Single submitter
-
ITPR1 p.Lys2134Arg
Uncertain significance
Single submitter
aniridia-cerebellar ataxia-intellectual disability syndrome
- ITPR1 p.Lys2566Arg Uncertain significance Single submitter
-
ITPR1 p.Lys2657Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITPR1 p.Pro204Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ITPR1 p.Pro204Thr Uncertain significance Single submitter
- ITPR1 p.Pro659Arg Uncertain significance Single submitter
- ITPR1 p.Ser22Leu Uncertain significance Single submitter
-
ITPR1 p.Ser826Phe
Uncertain significance
Single submitter
movement disorder
- ITPR1 p.Thr800Ile Uncertain significance Single submitter
- ITPR1 p.Tyr1181Cys Uncertain significance Single submitter
- ITPR1 p.Tyr1869Cys Uncertain significance Single submitter
-
ITPR1 p.Tyr2391Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ITPR1 p.Tyr387Phe Uncertain significance Single submitter
- ITPR1 p.Val1465Ala Uncertain significance Single submitter
- ITPR1 p.Val2692Leu Uncertain significance Single submitter
-
ITPR1 p.Arg767His
Likely benign
No assertion criteria
intellectual disability
All ITPR1 variants
Pathogenic 35
- p.Gly2595Glu Multiple submitters spinocerebellar ataxia type 15/16
- p.Lys2611del Multiple submitters ITPR1-related disorders
- p.Thr267Met Multiple submitters spinocerebellar ataxia type 29
- p.Thr594Ile Multiple submitters spinocerebellar ataxia type 15/16
- p.Tyr567Cys Multiple submitters spinocerebellar ataxia type 29
- c.1252-1G>A Single submitter
- c.279+4_279+7del Single submitter aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Ala2367fs Single submitter
- p.Arg1009Ter Single submitter
- p.Arg170Ter Single submitter
- p.Arg2211Ter Single submitter
- p.Arg2444Cys Single submitter
- p.Arg568Gly Single submitter spinocerebellar ataxia type 29
- p.Arg623Ter Single submitter
- p.Arg793Ter Single submitter
- p.Gln1260Ter Single submitter
- p.Gln1686Ter Single submitter
- p.Glu1941Ter Single submitter
- p.Glu461Ter Single submitter
- p.Leu1688Pro Single submitter
- p.Leu2358Ter Single submitter
- p.Leu2451Pro Single submitter spinocerebellar ataxia type 29
- p.Lys569Glu Single submitter
- p.Val2634fs Single submitter
- p.Val994fs Single submitter aniridia-cerebellar ataxia-intellectual disability syndrome
- c.1252-2A>T No assertion criteria aniridia-cerebellar ataxia-intellectual disability syndrome
- c.6510+3A>T No assertion criteria aniridia-cerebellar ataxia-intellectual disability syndrome
- c.6808+5G>T No assertion criteria aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Arg728Ter No assertion criteria aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Asn602Asp No assertion criteria spinocerebellar ataxia type 29
- p.Gln1567Ter No assertion criteria aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Glu2109Gly No assertion criteria aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Leu1835Pro No assertion criteria spinocerebellar ataxia type 29
- p.Phe2601Leu No assertion criteria aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Pro1083Leu No assertion criteria spinocerebellar ataxia type 15/16
Pathogenic/Likely pathogenic 14
- c.1252-1G>C Multiple submitters ITPR1-related disorders
- c.1252-1G>T Multiple submitters
- p.Ala1089fs Multiple submitters aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Arg241Lys Multiple submitters spinocerebellar ataxia type 29
- p.Arg269Leu Multiple submitters
- p.Arg269Trp Multiple submitters neurodevelopmental disorder
- p.Glu2109Lys Multiple submitters ITPR1-related disorders
- p.Glu248del Multiple submitters spinocerebellar ataxia type 29
- p.Gly2554Arg Multiple submitters ITPR1-related disorders
- p.His244Arg Multiple submitters
- p.Ile2598Thr Multiple submitters ITPR1-related disorders
- p.Phe250Leu Multiple submitters spinocerebellar ataxia type 15/16
- p.Thr267Arg Multiple submitters spinocerebellar ataxia type 29
- p.Val1562Met Multiple submitters neurodevelopmental disorder
Likely pathogenic 39
- p.Arg504Gly Multiple submitters spinocerebellar ataxia type 29
- p.Arg506Trp Multiple submitters spinocerebellar ataxia type 15/16
- p.Arg511Gly Multiple submitters intellectual disability
- p.Arg511Ser Multiple submitters spinocerebellar ataxia type 29
- p.Leu605Phe Multiple submitters Inborn genetic diseases
- p.Thr2434Ile Multiple submitters Inborn genetic diseases
- p.Thr2600Pro Multiple submitters spinocerebellar ataxia type 29
- p.Val1445Met Multiple submitters ITPR1-related disorders
- c.2007-2A>G Single submitter
- c.2457-2A>C Single submitter
- c.3702+1G>A Single submitter
- c.3703-2A>G Single submitter
- c.4842+2T>C Single submitter
- c.5103+2_5103+6del Single submitter
- c.5980-17G>A Single submitter aniridia-cerebellar ataxia-intellectual disability syndrome
- c.5980-26C>A Single submitter aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Arg1827Ter Single submitter
- p.Arg511Lys Single submitter ITPR1-related disorders
- p.Asp34Asn Single submitter
- p.Cys2619fs Single submitter
- p.Gln1629Ter Single submitter aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Gln582fs Single submitter
- p.Glu512Gly Single submitter
- p.Glu512Lys Single submitter spinocerebellar ataxia type 29
- p.Gly1843Arg Single submitter Bilateral congenital mydriasis
- p.Gly2595Ala Single submitter spinocerebellar ataxia type 29
- p.Gly948Glu Single submitter spinocerebellar ataxia type 29
- p.His244Pro Single submitter Inborn genetic diseases
- p.Ile2248fs Single submitter aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Ile2449Val Single submitter spinocerebellar ataxia type 15/16
- p.Leu1564Pro Single submitter spinocerebellar ataxia type 29
- p.Leu2592Pro Single submitter
- p.Leu637Ile Single submitter
- p.Pro372Leu Single submitter
- p.Ser277Ile Single submitter spinocerebellar ataxia type 29
- p.Thr1395Met Single submitter ITPR1-related disorders
- p.Tyr567His Single submitter Inborn genetic diseases
- p.Tyr567Ser Single submitter
- p.Lys258Met No assertion criteria spinocerebellar ataxia type 15/16
Conflicting classifications of pathogenicity 94
- c.1152-10dup Single submitter
- c.1152-6T>C Single submitter
- c.1413-15G>A Single submitter autosomal dominant cerebellar ataxia
- c.1554+3C>T Single submitter
- c.163+7T>C Single submitter
- c.1714-12C>T Single submitter autosomal dominant cerebellar ataxia
- c.1887-3T>C Single submitter
- c.2204+14G>A Single submitter autosomal dominant cerebellar ataxia
- c.3564+9C>T Single submitter autosomal dominant cerebellar ataxia
- c.366+15C>T Single submitter autosomal dominant cerebellar ataxia
- c.4658-3C>T Single submitter Inborn genetic diseases
- c.4843-7G>A Single submitter
- c.5354-10A>G Single submitter
- c.5980-6T>C Single submitter
- c.709-6T>C Single submitter autosomal dominant cerebellar ataxia
- c.7562-11C>T Single submitter autosomal dominant cerebellar ataxia
- c.-2A>G Single submitter autosomal dominant cerebellar ataxia
- c.*279A>G Single submitter autosomal dominant cerebellar ataxia
- p.Ala1106= Single submitter
- p.Ala1235= Single submitter autosomal dominant cerebellar ataxia
- p.Ala1958Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1961Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2117Ser Single submitter autosomal dominant cerebellar ataxia
- p.Ala2193= Single submitter autosomal dominant cerebellar ataxia
- p.Ala2367Thr Single submitter autosomal dominant cerebellar ataxia
- p.Ala275Thr Single submitter spinocerebellar ataxia type 29 ⚠
- p.Ala275Val Single submitter spinocerebellar ataxia type 29 ⚠
- p.Ala86Thr Single submitter autosomal dominant cerebellar ataxia
- p.Ala911Val Single submitter aniridia-cerebellar ataxia-intellectual disability syndrome ⚠
- p.Ala960= Single submitter autosomal dominant cerebellar ataxia
- p.Arg1757Thr Single submitter Inborn genetic diseases
- p.Arg1762= Single submitter
- p.Arg269Gln Single submitter ITPR1-related disorders ⚠
- p.Arg345Gln Single submitter autosomal dominant cerebellar ataxia
- p.Arg36Cys Single submitter Inborn genetic diseases ⚠
- p.Arg36His Single submitter Inborn genetic diseases ⚠
- p.Arg767Cys Single submitter autosomal dominant cerebellar ataxia ⚠
- p.Asn1356= Single submitter
- p.Asn1755= Single submitter autosomal dominant cerebellar ataxia
- p.Asn1814Ser Single submitter ⚠
- p.Asn47Ser Single submitter Inborn genetic diseases
- p.Asp1695Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1706Asn Single submitter
- p.Asp1897= Single submitter autosomal dominant cerebellar ataxia
- p.Asp703Asn Single submitter Inborn genetic diseases
- p.Asp828= Single submitter
- p.Asp85= Single submitter autosomal dominant cerebellar ataxia
- p.Gln1252= Single submitter
- p.Glu2433Lys Single submitter spinocerebellar ataxia type 15/16 ⚠
- p.Glu246Lys Single submitter Inborn genetic diseases ⚠
- p.Gly1524= Single submitter ITPR1-related disorder
- p.Gly158= Single submitter autosomal dominant cerebellar ataxia
- p.Gly1779Ser Single submitter autosomal dominant cerebellar ataxia ⚠
- p.Gly1789Arg Single submitter
- p.Gly1796Ser Single submitter
- p.Gly2492Ser Single submitter spinocerebellar ataxia type 15/16 ⚠
- p.Gly2550Arg Single submitter Inborn genetic diseases ⚠
- p.Gly2554Trp Single submitter ⚠
- p.Gly936= Single submitter autosomal dominant cerebellar ataxia
- p.His1076= Single submitter autosomal dominant cerebellar ataxia
- p.His1307= Single submitter
- p.His93= Single submitter
- p.Ile178Val Single submitter Inborn genetic diseases
- p.Ile2653= Single submitter
- p.Ile895Val Single submitter spastic ataxia
- p.Leu1685= Single submitter autosomal dominant cerebellar ataxia
- p.Leu1992= Single submitter autosomal dominant cerebellar ataxia
- p.Leu538= Single submitter
- p.Leu541= Single submitter autosomal dominant cerebellar ataxia
- p.Leu605Val Single submitter spinocerebellar ataxia type 29 ⚠
- p.Leu774= Single submitter autosomal dominant cerebellar ataxia
- p.Met1153Val Single submitter autosomal dominant cerebellar ataxia
- p.Phe1291= Single submitter autosomal dominant cerebellar ataxia
- p.Phe263= Single submitter autosomal dominant cerebellar ataxia
- p.Pro1059Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1172Ala Single submitter Inborn genetic diseases
- p.Ser175= Single submitter
- p.Ser2441Asn Single submitter Inborn genetic diseases ⚠
- p.Ser2497= Single submitter autosomal dominant cerebellar ataxia
- p.Ser277Gly Single submitter ⚠
- p.Ser278Leu Single submitter aniridia-cerebellar ataxia-intellectual disability syndrome ⚠
- p.Ser704Thr Single submitter Inborn genetic diseases
- p.Thr1165Met Single submitter Inborn genetic diseases ⚠
- p.Thr1474Ile Single submitter autosomal dominant cerebellar ataxia
- p.Thr1669Lys Single submitter spinocerebellar ataxia type 29
- p.Thr252Ile Single submitter spinocerebellar ataxia type 29 ⚠
- p.Thr273= Single submitter autosomal dominant cerebellar ataxia
- p.Thr310Met Single submitter Inborn genetic diseases ⚠
- p.Thr420= Single submitter autosomal dominant cerebellar ataxia
- p.Tyr557= Single submitter autosomal dominant cerebellar ataxia
- p.Val1185= Single submitter autosomal dominant cerebellar ataxia
- p.Val1492Ile Single submitter Inborn genetic diseases ⚠
- p.Val2546Met Single submitter spinocerebellar ataxia type 15/16 ⚠
- p.Val484Ile Single submitter Inborn genetic diseases
Benign 222
- c.1151+5C>G Multiple submitters autosomal dominant cerebellar ataxia
- c.1251+10G>A Multiple submitters autosomal dominant cerebellar ataxia
- c.1251+26C>T Multiple submitters
- c.1252-109T>A Multiple submitters
- c.1412+11C>T Multiple submitters autosomal dominant cerebellar ataxia
- c.1412+13G>A Multiple submitters autosomal dominant cerebellar ataxia
- c.1413-113T>C Multiple submitters
- c.163+132G>C Multiple submitters
- c.1714-137G>A Multiple submitters
- c.1714-64G>T Multiple submitters
- c.1886+20C>A Multiple submitters
- c.2006+162G>A Multiple submitters
- c.2006+229C>T Multiple submitters
- c.2007-179G>A Multiple submitters
- c.2204+100A>T Multiple submitters
- c.2204+13C>T Multiple submitters autosomal dominant cerebellar ataxia
- c.2456+194G>T Multiple submitters
- c.2599-37T>G Multiple submitters
- c.2599-80T>C Multiple submitters
- c.2780-138A>G Multiple submitters
- c.2967+47G>A Multiple submitters
- c.3106+157A>G Multiple submitters
- c.3107-92A>G Multiple submitters
- c.3702+122A>G Multiple submitters
- c.3702+57T>G Multiple submitters
- c.3829-158G>A Multiple submitters
- c.4282-57A>G Multiple submitters
- c.4407+44GT[18] Multiple submitters spinocerebellar ataxia type 29
- c.4408-100C>T Multiple submitters
- c.4536+105G>A Multiple submitters
- c.4657+201G>A Multiple submitters
- c.4842+158G>A Multiple submitters
- c.4843-207T>G Multiple submitters
- c.4992-143G>A Multiple submitters
- c.4992-21C>T Multiple submitters
- c.4992-263C>T Multiple submitters
- c.5103+160A>G Multiple submitters
- c.5136+123T>A Multiple submitters
- c.5136+50G>A Multiple submitters
- c.526-8C>T Multiple submitters
- c.5353+4C>T Multiple submitters autosomal dominant cerebellar ataxia
- c.5354-64A>G Multiple submitters
- c.5726-226T>C Multiple submitters
- c.6292-215G>A Multiple submitters
- c.6292-53C>A Multiple submitters
- c.6388-172T>C Multiple submitters
- c.6388-291T>C Multiple submitters
- c.6616-56T>C Multiple submitters
- c.7562-20G>A Multiple submitters
- c.7562-59A>G Multiple submitters
- c.7701+165C>T Multiple submitters
- c.7701+184G>A Multiple submitters
- c.7701+38C>G Multiple submitters
- c.7701+42T>G Multiple submitters
- c.7701+47T>G Multiple submitters
- c.7702-87T>C Multiple submitters
- c.7867+91C>G Multiple submitters
- c.7868-41G>A Multiple submitters
- c.8029-123T>C Multiple submitters
- c.855+136A>G Multiple submitters
- c.855+165A>G Multiple submitters
- c.855+241T>G Multiple submitters
- c.855+308T>C Multiple submitters
- c.855+86T>A Multiple submitters
- c.856-151C>T Multiple submitters
- c.856-254C>A Multiple submitters
- c.92+29C>G Multiple submitters
- c.93-41T>G Multiple submitters
- c.951+108A>C Multiple submitters
- c.951+109G>A Multiple submitters
- c.951+166C>G Multiple submitters
- c.951+268T>G Multiple submitters
- c.951+35G>C Multiple submitters spinocerebellar ataxia type 15/16
- c.951+41G>A Multiple submitters
- c.951+51G>A Multiple submitters
- c.951+57C>T Multiple submitters
- c.951+75G>A Multiple submitters
- c.952-156A>G Multiple submitters
- c.996+110G>A Multiple submitters
- c.997-32T>C Multiple submitters
- c.997-81T>C Multiple submitters
- c.-16-145A>G Multiple submitters
- c.-16-56T>C Multiple submitters
- c.*121G>C Multiple submitters autosomal dominant cerebellar ataxia
- c.*1531G>T Multiple submitters autosomal dominant cerebellar ataxia
- c.*47G>C Multiple submitters autosomal dominant cerebellar ataxia
- c.*48T>G Multiple submitters autosomal dominant cerebellar ataxia
- c.*643A>T Multiple submitters autosomal dominant cerebellar ataxia
- c.*777C>T Multiple submitters autosomal dominant cerebellar ataxia
- c.*847G>A Multiple submitters autosomal dominant cerebellar ataxia
- p.Ala146= Multiple submitters autosomal dominant cerebellar ataxia
- p.Ala19= Multiple submitters autosomal dominant cerebellar ataxia
- p.Arg65= Multiple submitters autosomal dominant cerebellar ataxia
- p.Asn2037= Multiple submitters spinocerebellar ataxia type 29
- p.Glu512= Multiple submitters autosomal dominant cerebellar ataxia
- p.Gly2722= Multiple submitters autosomal dominant cerebellar ataxia
- p.Leu1409= Multiple submitters autosomal dominant cerebellar ataxia
- p.Leu2352= Multiple submitters spinocerebellar ataxia type 15/16
- p.Leu375= Multiple submitters autosomal dominant cerebellar ataxia
- p.Leu760= Multiple submitters autosomal dominant cerebellar ataxia
- p.Leu886= Multiple submitters spinocerebellar ataxia type 15/16
- p.Lys2232= Multiple submitters autosomal dominant cerebellar ataxia
- p.Lys2563= Multiple submitters spinocerebellar ataxia type 15/16
- p.Lys669= Multiple submitters spinocerebellar ataxia type 15/16
- p.Met769Val Multiple submitters autosomal dominant cerebellar ataxia
- p.Ser1541= Multiple submitters autosomal dominant cerebellar ataxia
- p.Thr1723= Multiple submitters spinocerebellar ataxia type 29
- p.Thr2239= Multiple submitters autosomal dominant cerebellar ataxia
- p.Thr2545= Multiple submitters spinocerebellar ataxia type 15/16
- c.1251+87_1251+88insT Single submitter
- c.1252-208A>G Single submitter
- c.1252-219T>C Single submitter
- c.1554+228A>G Single submitter
- c.164-203A>C Single submitter
- c.164-225G>A Single submitter
- c.164-281del Single submitter
- c.164-332T>C Single submitter
- c.1713+273G>A Single submitter
- c.1886+300C>T Single submitter
- c.1887-205C>A Single submitter
- c.2205-311G>A Single submitter
- c.2205-320A>G Single submitter
- c.2456+10G>T Single submitter
- c.2456+191TTTG[3] Single submitter
- c.2598+187T>C Single submitter
- c.2599-217G>A Single submitter
- c.2599-218dup Single submitter
- c.279+130G>A Single submitter
- c.279+155G>C Single submitter
- c.2967+186C>G Single submitter
- c.2967+23del Single submitter
- c.2968-325A>G Single submitter
- c.3106+218T>G Single submitter
- c.3106+256C>T Single submitter
- c.3107-264C>T Single submitter
- c.3161+202A>C Single submitter
- c.3161+248A>G Single submitter
- c.3162-15C>T Single submitter
- c.3327+14C>A Single submitter
- c.3498+139del Single submitter
- c.3498+205A>G Single submitter
- c.3564+243C>T Single submitter
- c.367-171G>C Single submitter
- c.3703-230_3703-229insC Single submitter
- c.3703-337A>G Single submitter
- c.3829-158del Single submitter
- c.4029+135T>A Single submitter
- c.4029+185C>G Single submitter
- c.4029+241C>G Single submitter
- c.4281+103T>C Single submitter
- c.4281+105G>T Single submitter
- c.4281+108C>T Single submitter
- c.4282-178T>C Single submitter
- c.4407+184_4407+197dup Single submitter
- c.4407+185_4407+197dup Single submitter
- c.4407+187_4407+197dup Single submitter
- c.4407+44GT[17] Single submitter
- c.4407+44GT[20] Single submitter
- c.4407+44GT[21] Single submitter
- c.4407+44GT[22] Single submitter
- c.4408-213G>A Single submitter
- c.4536+196A>G Single submitter
- c.4536+263G>A Single submitter
- c.4536+626A>G Single submitter
- c.4536+651A>G Single submitter
- c.4537-17C>G Single submitter
- c.4658-257G>A Single submitter
- c.4843-287G>A Single submitter
- c.4991+311C>T Single submitter
- c.4992-240dup Single submitter
- c.5104-299A>G Single submitter
- c.5220+234del Single submitter
- c.526-20A>G Single submitter
- c.5354-186T>G Single submitter
- c.5725+281C>T Single submitter
- c.5979+125T>G Single submitter
- c.5979+154_5979+155del Single submitter
- c.5979+154C>T Single submitter
- c.5980-125T>G Single submitter
- c.6181-156T>C Single submitter
- c.625-209A>G Single submitter
- c.625-257C>T Single submitter
- c.6291+330C>T Single submitter
- c.6387+275A>G Single submitter
- c.6615+179T>A Single submitter
- c.6615+226C>T Single submitter
- c.6616-210G>A Single submitter
- c.6616-219A>G Single submitter
- c.6808+276A>G Single submitter
- c.6809-287C>T Single submitter
- c.7107+182T>C Single submitter
- c.7107+204G>T Single submitter
- c.7107+305C>G Single submitter
- c.7273-15del Single submitter
- c.7273-215A>C Single submitter
- c.7562-48T>G Single submitter
- c.7702-18G>A Single submitter
- c.7702-5dup Single submitter
- c.8029-15del Single submitter
- c.8029-16_8029-15del Single submitter
- c.8029-242T>C Single submitter
- c.8029-25_8029-15del Single submitter
- c.8029-26_8029-15del Single submitter
- c.8029-292A>G Single submitter
- c.8190+124C>T Single submitter
- c.8190+13_8190+14del Single submitter
- c.8190+220T>C Single submitter
- c.855+15G>C Single submitter
- c.855+59CT[8] Single submitter
- c.997-164G>A Single submitter
- c.-244G>A Single submitter autosomal dominant cerebellar ataxia
- c.-315C>T Single submitter autosomal dominant cerebellar ataxia
- c.-341A>T Single submitter autosomal dominant cerebellar ataxia
- c.-81A>G Single submitter autosomal dominant cerebellar ataxia
- c.*1008A>G Single submitter autosomal dominant cerebellar ataxia
- c.*1156A>C Single submitter autosomal dominant cerebellar ataxia
- c.*1196T>C Single submitter autosomal dominant cerebellar ataxia
- c.*1385A>G Single submitter autosomal dominant cerebellar ataxia
- c.*1533G>A Single submitter autosomal dominant cerebellar ataxia
- c.*979A>T Single submitter autosomal dominant cerebellar ataxia
- p.His1479= Single submitter
- p.Ile1817= Single submitter
Benign/Likely benign 78
- c.1554+17G>A Multiple submitters spinocerebellar ataxia type 15/16
- c.1886+7C>T Multiple submitters
- c.2007-3T>C Multiple submitters autosomal dominant cerebellar ataxia
- c.2007-7T>G Multiple submitters autosomal dominant cerebellar ataxia
- c.3106+13G>A Multiple submitters
- c.3327+12C>T Multiple submitters autosomal dominant cerebellar ataxia
- c.3327+4G>A Multiple submitters autosomal dominant cerebellar ataxia
- c.4030-17C>T Multiple submitters
- c.4843-8C>T Multiple submitters autosomal dominant cerebellar ataxia
- c.5979+18G>A Multiple submitters
- c.624+18T>C Multiple submitters
- c.625-14A>T Multiple submitters autosomal dominant cerebellar ataxia
- c.6510+7T>C Multiple submitters autosomal dominant cerebellar ataxia
- c.6808+8C>G Multiple submitters autosomal dominant cerebellar ataxia
- c.7702-36_7702-17del Multiple submitters
- c.855+18A>G Multiple submitters
- c.997-6C>T Multiple submitters autosomal dominant cerebellar ataxia
- p.Ala1220= Multiple submitters autosomal dominant cerebellar ataxia
- p.Ala2039= Multiple submitters autosomal dominant cerebellar ataxia
- p.Ala2573= Multiple submitters
- p.Ala742= Multiple submitters autosomal dominant cerebellar ataxia
- p.Ala911= Multiple submitters
- p.Arg1192= Multiple submitters
- p.Arg1417= Multiple submitters
- p.Arg872= Multiple submitters autosomal dominant cerebellar ataxia
- p.Asn1298= Multiple submitters autosomal dominant cerebellar ataxia
- p.Asn1315= Multiple submitters aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Asn1822= Multiple submitters autosomal dominant cerebellar ataxia
- p.Asn2116= Multiple submitters
- p.Asn2149= Multiple submitters
- p.Asn47= Multiple submitters autosomal dominant cerebellar ataxia
- p.Asn642= Multiple submitters autosomal dominant cerebellar ataxia
- p.Asp1154Gly Multiple submitters aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Asp1651= Multiple submitters
- p.Asp1922= Multiple submitters autosomal dominant cerebellar ataxia
- p.Asp1963= Multiple submitters
- p.Asp2503= Multiple submitters autosomal dominant cerebellar ataxia
- p.Asp729= Multiple submitters
- p.Cys1255= Multiple submitters autosomal dominant cerebellar ataxia
- p.Glu2399= Multiple submitters
- p.Glu2642= Multiple submitters
- p.Gly1219= Multiple submitters autosomal dominant cerebellar ataxia
- p.Gly2366= Multiple submitters autosomal dominant cerebellar ataxia
- p.Gly294= Multiple submitters autosomal dominant cerebellar ataxia
- p.His1421Gln Multiple submitters autosomal dominant cerebellar ataxia
- p.Ile1430Val Multiple submitters autosomal dominant cerebellar ataxia
- p.Ile1491= Multiple submitters
- p.Ile2331= Multiple submitters
- p.Ile811= Multiple submitters autosomal dominant cerebellar ataxia
- p.Leu1613= Multiple submitters autosomal dominant cerebellar ataxia
- p.Leu2579= Multiple submitters autosomal dominant cerebellar ataxia
- p.Leu460= Multiple submitters
- p.Leu778= Multiple submitters
- p.Lys909= Multiple submitters
- p.Met954Ile Multiple submitters autosomal dominant cerebellar ataxia
- p.Phe2463= Multiple submitters autosomal dominant cerebellar ataxia
- p.Phe483= Multiple submitters
- p.Phe499= Multiple submitters autosomal dominant cerebellar ataxia
- p.Pro2304= Multiple submitters autosomal dominant cerebellar ataxia
- p.Pro434= Multiple submitters aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Ser1019= Multiple submitters autosomal dominant cerebellar ataxia
- p.Ser1618= Multiple submitters autosomal dominant cerebellar ataxia
- p.Ser22= Multiple submitters autosomal dominant cerebellar ataxia
- p.Ser2502= Multiple submitters
- p.Ser2553= Multiple submitters
- p.Ser813= Multiple submitters autosomal dominant cerebellar ataxia
- p.Thr2538= Multiple submitters
- p.Thr2618= Multiple submitters
- p.Thr2662= Multiple submitters autosomal dominant cerebellar ataxia
- p.Thr310= Multiple submitters autosomal dominant cerebellar ataxia
- p.Tyr2670= Multiple submitters
- p.Val1204Met Multiple submitters
- p.Val1223= Multiple submitters aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Val1388= Multiple submitters
- p.Val1418= Multiple submitters aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Val1874Gly Multiple submitters autosomal dominant cerebellar ataxia
- p.Val1920= Multiple submitters
- p.Val494Ile Multiple submitters autosomal dominant cerebellar ataxia
Likely benign 769
Showing the top 300 by review status; the full set is in the sitemap.
- c.1412+25C>T Multiple submitters
- c.1413-4T>A Multiple submitters Inborn genetic diseases
- c.1714-4A>G Multiple submitters
- c.1714-9C>A Multiple submitters
- c.1886+8G>A Multiple submitters
- c.1887-8_1887-3del Multiple submitters
- c.2007-141T>C Multiple submitters
- c.280-170T>C Multiple submitters
- c.3107-15G>A Multiple submitters
- c.3107-19G>A Multiple submitters
- c.3498+73G>C Multiple submitters
- c.3565-4C>T Multiple submitters
- c.4537-6T>C Multiple submitters
- c.4658-46C>A Multiple submitters
- c.4842+100G>A Multiple submitters
- c.5104-204G>A Multiple submitters
- c.5173-206G>A Multiple submitters
- c.5221-113C>T Multiple submitters
- c.5544+10C>T Multiple submitters
- c.5725+138G>A Multiple submitters
- c.5725+83G>A Multiple submitters
- c.5726-107C>T Multiple submitters
- c.5726-130T>C Multiple submitters
- c.6180+11T>A Multiple submitters autosomal dominant cerebellar ataxia
- c.624+48G>A Multiple submitters
- c.6387+15G>A Multiple submitters
- c.6387+44C>T Multiple submitters
- c.6808+13G>A Multiple submitters
- c.6809-19T>C Multiple submitters
- c.708+28A>G Multiple submitters
- c.7272+15T>A Multiple submitters
- c.7562-10G>A Multiple submitters
- c.7701+22G>A Multiple submitters
- c.7868-16T>C Multiple submitters
- c.7868-20G>A Multiple submitters
- c.8190+16C>G Multiple submitters
- c.855+50G>A Multiple submitters
- c.856-80T>C Multiple submitters
- c.996+47C>T Multiple submitters
- c.-16-117A>G Multiple submitters
- p.Ala1929Thr Multiple submitters
- p.Ala2292= Multiple submitters
- p.Ala2334= Multiple submitters
- p.Ala591= Multiple submitters
- p.Arg1514= Multiple submitters
- p.Arg1696= Multiple submitters
- p.Arg947= Multiple submitters
- p.Asn1253= Multiple submitters
- p.Asn1721Lys Multiple submitters Inborn genetic diseases
- p.Asn661= Multiple submitters
- p.Asp1414= Multiple submitters
- p.Asp1563= Multiple submitters
- p.Asp2189= Multiple submitters
- p.Asp231= Multiple submitters autosomal dominant cerebellar ataxia
- p.Asp693= Multiple submitters
- p.Cys530= Multiple submitters
- p.Gln1046= Multiple submitters
- p.Gln1284= Multiple submitters
- p.Gln1515= Multiple submitters
- p.Gln260= Multiple submitters
- p.Glu2677= Multiple submitters
- p.Glu715= Multiple submitters
- p.Gly2492= Multiple submitters
- p.His1065= Multiple submitters autosomal dominant cerebellar ataxia
- p.His2549= Multiple submitters
- p.His261= Multiple submitters
- p.Ile1365= Multiple submitters
- p.Ile1616= Multiple submitters
- p.Ile2476= Multiple submitters
- p.Leu1573= Multiple submitters
- p.Leu651= Multiple submitters autosomal dominant cerebellar ataxia
- p.Leu888= Multiple submitters
- p.Leu952= Multiple submitters
- p.Lys1866= Multiple submitters
- p.Phe1291Leu Multiple submitters
- p.Phe445= Multiple submitters
- p.Pro1149= Multiple submitters
- p.Pro1411= Multiple submitters
- p.Pro2272= Multiple submitters
- p.Pro413= Multiple submitters
- p.Ser1023= Multiple submitters
- p.Ser1759= Multiple submitters
- p.Ser1788= Multiple submitters
- p.Ser1928= Multiple submitters
- p.Ser1968= Multiple submitters
- p.Ser271= Multiple submitters
- p.Ser563= Multiple submitters
- p.Ter2759= Multiple submitters
- p.Thr1282= Multiple submitters
- p.Thr1510= Multiple submitters
- p.Thr1913= Multiple submitters
- p.Thr2023= Multiple submitters
- p.Thr2201= Multiple submitters
- p.Thr2361= Multiple submitters
- p.Thr2617= Multiple submitters
- p.Thr611= Multiple submitters
- p.Tyr2664= Multiple submitters
- p.Val1970= Multiple submitters
- p.Val589= Multiple submitters
- c.1151+11A>G Single submitter
- c.1151+18C>G Single submitter
- c.1152-17C>G Single submitter
- c.1152-20C>T Single submitter
- c.1251+12G>A Single submitter
- c.1251+17G>T Single submitter
- c.1251+18C>T Single submitter
- c.1251+200C>G Single submitter
- c.1251+66dup Single submitter
- c.1251+7C>T Single submitter
- c.1252-133del Single submitter
- c.1252-133dup Single submitter
- c.1252-15C>T Single submitter
- c.1252-17A>G Single submitter
- c.1252-18G>A Single submitter
- c.1412+10C>G Single submitter
- c.1412+11C>G Single submitter
- c.1412+12C>T Single submitter
- c.1412+193T>C Single submitter
- c.1413-15G>C Single submitter
- c.1413-16C>T Single submitter
- c.1554+13T>C Single submitter
- c.1554+15G>A Single submitter
- c.1554+16C>T Single submitter
- c.1554+170G>C Single submitter
- c.1554+75A>G Single submitter
- c.1555-176G>T Single submitter
- c.1555-184T>C Single submitter
- c.1555-66C>T Single submitter
- c.1555-6A>T Single submitter
- c.163+10T>C Single submitter
- c.163+12G>A Single submitter
- c.163+13C>T Single submitter
- c.163+14T>C Single submitter
- c.163+237G>T Single submitter
- c.163+266G>A Single submitter
- c.164-13G>A Single submitter
- c.164-198_164-195del Single submitter
- c.1713+14A>C Single submitter
- c.1713+14A>G Single submitter
- c.1713+16T>A Single submitter
- c.1713+16T>C Single submitter
- c.1713+18G>A Single submitter
- c.1714-20T>G Single submitter
- c.1714-242G>A Single submitter
- c.1714-6A>G Single submitter
- c.1714-7_1714-5del Single submitter
- c.1886+14G>A Single submitter autosomal dominant cerebellar ataxia
- c.1886+14G>C Single submitter
- c.1886+16G>A Single submitter
- c.1886+296C>T Single submitter
- c.1887-4T>G Single submitter
- c.1887-8C>G Single submitter
- c.2006+14C>T Single submitter
- c.2006+16G>C Single submitter
- c.2006+20T>A Single submitter
- c.2006+8G>T Single submitter
- c.2007-15C>T Single submitter
- c.2007-21CCT[2] Single submitter
- c.2007-7T>C Single submitter
- c.2007-9G>C Single submitter
- c.2204+14G>C Single submitter
- c.2204+14G>T Single submitter
- c.2204+15T>C Single submitter
- c.2204+17_2204+18del Single submitter
- c.2204+4C>A Single submitter
- c.2204+7G>A Single submitter
- c.2205-14G>T Single submitter
- c.2205-19C>G Single submitter
- c.2456+13C>T Single submitter
- c.2456+20_2456+23dup Single submitter
- c.2457-15C>A Single submitter
- c.2457-289C>G Single submitter
- c.2457-318G>A Single submitter
- c.2457-6T>C Single submitter
- c.2598+18C>T Single submitter
- c.2599-218del Single submitter
- c.2780-6T>G Single submitter
- c.279+11C>T Single submitter
- c.279+13A>G Single submitter
- c.279+16G>A Single submitter
- c.279+18G>C Single submitter
- c.279+19C>T Single submitter
- c.279+20_279+31del Single submitter
- c.279+314A>G Single submitter
- c.280-10C>A Single submitter
- c.280-16T>C Single submitter
- c.2967+11G>C Single submitter
- c.2967+153C>G Single submitter
- c.2967+15G>C Single submitter
- c.2967+16A>G Single submitter
- c.2967+19T>G Single submitter
- c.2967+8C>T Single submitter
- c.2968-38T>C Single submitter
- c.3161+224_3161+225insATGTGTGTGTGTGT Single submitter
- c.3162-12G>C Single submitter
- c.3162-18C>T Single submitter
- c.3162-20C>T Single submitter
- c.3162-7C>T Single submitter
- c.3327+18C>G Single submitter
- c.3327+19G>A Single submitter
- c.3327+19G>T Single submitter
- c.3327+7C>T Single submitter
- c.3327+8A>G Single submitter
- c.3328-10G>A Single submitter
- c.3328-17G>A Single submitter
- c.3498+10del Single submitter
- c.3498+11C>T Single submitter
- c.3498+13C>A Single submitter
- c.3498+8A>C Single submitter
- c.3499-8G>C Single submitter
- c.3564+14C>G Single submitter
- c.3564+16_3564+17del Single submitter
- c.3564+17C>T Single submitter
- c.3564+20C>A Single submitter
- c.3564+22A>G Single submitter
- c.3564+271A>C Single submitter
- c.3565-17T>C Single submitter
- c.3565-20G>A Single submitter
- c.3565-5A>G Single submitter
- c.366+15C>G Single submitter
- c.366+20C>G Single submitter
- c.367-13G>T Single submitter
- c.3702+16T>A Single submitter
- c.3702+19A>G Single submitter
- c.3702+20C>T Single submitter
- c.3702+7G>A Single submitter
- c.3703-11C>T Single submitter
- c.3703-18C>T Single submitter
- c.3703-19T>C Single submitter
- c.3703-310G>T Single submitter
- c.3703-6A>G Single submitter
- c.3828+17A>G Single submitter
- c.3828+17A>T Single submitter
- c.3828+21_3828+28del Single submitter
- c.3828+237C>T Single submitter
- c.3829-10C>G Single submitter
- c.3829-126A>G Single submitter
- c.4029+12A>G Single submitter
- c.4029+208C>A Single submitter
- c.4029+20G>A Single submitter
- c.4029+291A>G Single submitter
- c.4030-13G>A Single submitter
- c.4030-18A>T Single submitter
- c.4281+12C>T Single submitter
- c.4281+14G>A Single submitter
- c.4281+18G>T Single submitter
- c.4281+9G>A Single submitter
- c.4282-10T>C Single submitter
- c.4282-37A>C Single submitter
- c.4282-9A>G Single submitter
- c.4407+11T>C Single submitter
- c.4407+14A>C Single submitter
- c.4407+186_4407+197dup Single submitter
- c.4407+197dup Single submitter
- c.4407+56_4407+57insAGTGTGTG Single submitter
- c.4407+7C>A Single submitter
- c.4407+8T>A Single submitter
- c.4408-16C>T Single submitter
- c.4408-291C>T Single submitter
- c.4408-9G>A Single submitter
- c.4536+16C>T Single submitter
- c.4536+17G>A Single submitter
- c.4537-10C>T Single submitter
- c.4537-18T>C Single submitter
- c.4537-20C>A Single submitter
- c.4537-20C>T Single submitter
- c.4537-35C>G Single submitter
- c.4657+10del Single submitter
- c.4657+17G>T Single submitter
- c.4657+19T>C Single submitter
- c.4657+9C>G Single submitter
- c.4658-18C>T Single submitter
- c.4658-20C>T Single submitter
- c.4842+12T>C Single submitter
- c.4842+13G>A Single submitter
- c.4842+13G>T Single submitter
- c.4842+18G>A Single submitter
- c.4842+8_4842+9del Single submitter
- c.4842+8C>A Single submitter
- c.4843-13_4843-12del Single submitter
- c.4843-16T>C Single submitter
- c.4843-19G>T Single submitter
- c.4843-8C>G Single submitter
- c.4843-9C>T Single submitter
- c.4991+10C>G Single submitter
- c.4991+12C>A Single submitter
- c.4991+20G>T Single submitter
- c.4991+23G>T Single submitter
- c.4992-15T>G Single submitter
- c.4992-17G>A Single submitter
- c.4992-20G>A Single submitter
- c.4992-46T>A Single submitter
- c.4992-7C>G Single submitter
- c.4992-7del Single submitter
- c.4992-9C>G Single submitter
- c.5103+17T>G Single submitter
- c.5103+9T>C Single submitter
- c.5136+144G>A Single submitter
- c.5221-15C>A Single submitter
- c.525+10G>T Single submitter
Uncertain significance 1040
Showing the top 300 by review status; the full set is in the sitemap.
- c.1554+4G>A Multiple submitters Inborn genetic diseases
- c.1554+6T>G Multiple submitters
- c.279+4C>G Multiple submitters
- c.3498+6T>C Multiple submitters
- c.3564+5G>T Multiple submitters Inborn genetic diseases
- c.4281+6C>T Multiple submitters
- c.5353+5G>A Multiple submitters
- c.6808+4G>A Multiple submitters
- c.7867+6T>G Multiple submitters
- c.951+6_951+8del Multiple submitters aniridia-cerebellar ataxia-intellectual disability syndrome
- c.996+4_996+7del Multiple submitters
- c.*1531G>A Multiple submitters autosomal dominant cerebellar ataxia
- p.Ala1220Thr Multiple submitters ⚠
- p.Ala1222Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala1222Val Multiple submitters Inborn genetic diseases
- p.Ala1247Ser Multiple submitters
- p.Ala1256Thr Multiple submitters spinocerebellar ataxia type 15/16
- p.Ala1480Gly Multiple submitters spinocerebellar ataxia type 29
- p.Ala1480Thr Multiple submitters Inborn genetic diseases
- p.Ala1557Thr Multiple submitters ⚠
- p.Ala1619Val Multiple submitters
- p.Ala1743Val Multiple submitters Inborn genetic diseases
- p.Ala1930Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala1934Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala1942Val Multiple submitters Inborn genetic diseases
- p.Ala1956Val Multiple submitters ⚠
- p.Ala1969Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala19Val Multiple submitters ⚠
- p.Ala2154Val Multiple submitters Inborn genetic diseases
- p.Ala2155Thr Multiple submitters
- p.Ala2202Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala339Asp Multiple submitters
- p.Ala547Ser Multiple submitters Inborn genetic diseases
- p.Ala547Thr Multiple submitters aniridia-cerebellar ataxia-intellectual disability syndrome ⚠
- p.Ala80Thr Multiple submitters Inborn genetic diseases
- p.Ala816Thr Multiple submitters Inborn genetic diseases
- p.Ala968Thr Multiple submitters ⚠
- p.Ala968Val Multiple submitters ⚠
- p.Arg1009Gln Multiple submitters spinocerebellar ataxia type 15/16 ⚠
- p.Arg1072His Multiple submitters ⚠
- p.Arg1095Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1095Trp Multiple submitters ⚠
- p.Arg1192Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1216Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1216Trp Multiple submitters ITPR1-related disorder ⚠
- p.Arg1369Gln Multiple submitters
- p.Arg1369Pro Multiple submitters ⚠
- p.Arg1372Gln Multiple submitters
- p.Arg1372Trp Multiple submitters ⚠
- p.Arg1374Gln Multiple submitters
- p.Arg1374Trp Multiple submitters ⚠
- p.Arg1417Cys Multiple submitters aniridia-cerebellar ataxia-intellectual disability syndrome
- p.Arg1417His Multiple submitters Inborn genetic diseases ⚠
- p.Arg148Lys Multiple submitters aniridia-cerebellar ataxia-intellectual disability syndrome ⚠
- p.Arg1514His Multiple submitters spinocerebellar ataxia type 15/16
- p.Arg1547Trp Multiple submitters spinocerebellar ataxia type 15/16 ⚠
- p.Arg1587Trp Multiple submitters Inborn genetic diseases
- p.Arg1595Cys Multiple submitters Inborn genetic diseases
- p.Arg1761Gln Multiple submitters autosomal dominant cerebellar ataxia
- p.Arg1854Cys Multiple submitters Inborn genetic diseases
- p.Arg1871Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1906Gln Multiple submitters Inborn genetic diseases
- p.Arg1921Gln Multiple submitters Inborn genetic diseases
- p.Arg1997Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg2234Gln Multiple submitters
- p.Arg2342Trp Multiple submitters ⚠
- p.Arg2444Leu Multiple submitters ⚠
- p.Arg2519Gly Multiple submitters ⚠
- p.Arg293Gln Multiple submitters ⚠
- p.Arg341Gln Multiple submitters
- p.Arg343Lys Multiple submitters autosomal dominant cerebellar ataxia
- p.Arg345Trp Multiple submitters Inborn genetic diseases
- p.Arg626Gly Multiple submitters ⚠
- p.Arg674Cys Multiple submitters Inborn genetic diseases
- p.Arg709Cys Multiple submitters Inborn genetic diseases
- p.Arg709His Multiple submitters spinocerebellar ataxia type 15/16
- p.Arg784His Multiple submitters ⚠
- p.Asn1033Ser Multiple submitters ⚠
- p.Asn119Ser Multiple submitters
- p.Asn1298Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn1770Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn2083Ser Multiple submitters Inborn genetic diseases
- p.Asn2249Ser Multiple submitters
- p.Asn2280His Multiple submitters
- p.Asn2679Ile Multiple submitters Inborn genetic diseases
- p.Asn2753Ser Multiple submitters Inborn genetic diseases
- p.Asn503Ser Multiple submitters Inborn genetic diseases
- p.Asn658Lys Multiple submitters Inborn genetic diseases
- p.Asn90His Multiple submitters
- p.Asp1039His Multiple submitters
- p.Asp1376Asn Multiple submitters Inborn genetic diseases
- p.Asp1413His Multiple submitters ⚠
- p.Asp1597Glu Multiple submitters Inborn genetic diseases
- p.Asp1818Asn Multiple submitters
- p.Asp1897Asn Multiple submitters
- p.Asp1945Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp1946Asn Multiple submitters
- p.Asp1959Asn Multiple submitters autosomal dominant cerebellar ataxia
- p.Asp1964Asn Multiple submitters
- p.Asp1991Gly Multiple submitters Inborn genetic diseases
- p.Asp2113Asn Multiple submitters ⚠
- p.Asp231Val Multiple submitters ITPR1-related disorder ⚠
- p.Asp2531Asn Multiple submitters Inborn genetic diseases
- p.Asp334Glu Multiple submitters Inborn genetic diseases
- p.Asp34Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp543Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys2052Ser Multiple submitters ⚠
- p.Cys530Tyr Multiple submitters
- p.Cys61Ser Multiple submitters ⚠
- p.Gln1580His Multiple submitters Inborn genetic diseases
- p.Gln2187His Multiple submitters
- p.Gln2271Arg Multiple submitters
- p.Glu1055Lys Multiple submitters ITPR1-related disorder ⚠
- p.Glu1249Gly Multiple submitters Inborn genetic diseases
- p.Glu1490Lys Multiple submitters
- p.Glu2050Lys Multiple submitters ⚠
- p.Glu2128Val Multiple submitters autosomal dominant cerebellar ataxia ⚠
- p.Glu2314Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu2478Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu2493Lys Multiple submitters Inborn genetic diseases
- p.Glu255Lys Multiple submitters Inborn genetic diseases
- p.Glu42Ala Multiple submitters Inborn genetic diseases
- p.Glu676Ala Multiple submitters
- p.Glu772Gly Multiple submitters
- p.Gly1024Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly1067Ser Multiple submitters spinocerebellar ataxia type 29
- p.Gly1146Glu Multiple submitters Inborn genetic diseases
- p.Gly1219Asp Multiple submitters ⚠
- p.Gly1754Glu Multiple submitters ⚠
- p.Gly1760Glu Multiple submitters
- p.Gly1771Ala Multiple submitters Inborn genetic diseases
- p.Gly1779Val Multiple submitters ITPR1-related syndromic and non-syndromic hereditary ataxias
- p.Gly1782Arg Multiple submitters autosomal dominant cerebellar ataxia
- p.Gly1785Ala Multiple submitters spinocerebellar ataxia type 15/16 ⚠
- p.Gly1785Val Multiple submitters Inborn genetic diseases
- p.Gly2147Ala Multiple submitters
- p.Gly2150Ser Multiple submitters Inborn genetic diseases
- p.Gly2357Arg Multiple submitters ⚠
- p.Gly2510Arg Multiple submitters Inborn genetic diseases
- p.Gly531Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly936Asp Multiple submitters Inborn genetic diseases
- p.Gly936Ser Multiple submitters spinocerebellar ataxia type 29
- p.Gly963Asp Multiple submitters Inborn genetic diseases
- p.His1162Tyr Multiple submitters Inborn genetic diseases
- p.His1947Pro Multiple submitters
- p.His2417Arg Multiple submitters ⚠
- p.His2749fs Multiple submitters
- p.Ile121Phe Multiple submitters ⚠
- p.Ile1277Asn Multiple submitters aniridia-cerebellar ataxia-intellectual disability syndrome ⚠
- p.Ile1297Val Multiple submitters spinocerebellar ataxia type 15/16
- p.Ile1610Thr Multiple submitters
- p.Ile1705Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile172Thr Multiple submitters
- p.Ile2071Val Multiple submitters Inborn genetic diseases
- p.Ile2331Thr Multiple submitters Inborn genetic diseases
- p.Ile2341Val Multiple submitters ⚠
- p.Ile2741Thr Multiple submitters
- p.Ile904Thr Multiple submitters Inborn genetic diseases
- p.Leu1093Phe Multiple submitters ⚠
- p.Leu2092Phe Multiple submitters ⚠
- p.Leu2335Phe Multiple submitters
- p.Leu2495_Arg2506delinsTrp Multiple submitters
- p.Lys1126Arg Multiple submitters Inborn genetic diseases
- p.Lys1174Asn Multiple submitters ⚠
- p.Lys1239Arg Multiple submitters
- p.Lys1458Asn Multiple submitters ⚠
- p.Lys1893Arg Multiple submitters ⚠
- p.Lys1962Arg Multiple submitters
- p.Lys2229Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys2532Glu Multiple submitters
- p.Lys2715Asn Multiple submitters
- p.Lys517Arg Multiple submitters
- p.Lys725Thr Multiple submitters
- p.Lys862Asn Multiple submitters Inborn genetic diseases
- p.Met1283Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met1339Ile Multiple submitters Inborn genetic diseases
- p.Met1339Val Multiple submitters Inborn genetic diseases ⚠
- p.Met1793Val Multiple submitters ⚠
- p.Met2124Val Multiple submitters Inborn genetic diseases ⚠
- p.Met2394Val Multiple submitters ⚠
- p.Met2750Val Multiple submitters autosomal dominant cerebellar ataxia
- p.Met351Leu Multiple submitters Inborn genetic diseases
- p.Met535Val Multiple submitters Inborn genetic diseases
- p.Pro1083Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro1084Leu Multiple submitters spinocerebellar ataxia type 15/16 ⚠
- p.Pro1411Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1778Thr Multiple submitters
- p.Pro1912Leu Multiple submitters
- p.Pro2747Ser Multiple submitters
- p.Pro534Ala Multiple submitters Inborn genetic diseases
- p.Ser1027Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser1032Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser1475Ile Multiple submitters
- p.Ser1482Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser1555Cys Multiple submitters
- p.Ser1566Gly Multiple submitters
- p.Ser1794Arg Multiple submitters Inborn genetic diseases
- p.Ser1799Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser1825Cys Multiple submitters Inborn genetic diseases
- p.Ser2180Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser2318Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser2721Pro Multiple submitters
- p.Ser301Thr Multiple submitters Inborn genetic diseases
- p.Ser704Asn Multiple submitters Inborn genetic diseases
- p.Ser710Asn Multiple submitters
- p.Ser908Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr1069Ile Multiple submitters spinocerebellar ataxia type 15/16 ⚠
- p.Thr113Ala Multiple submitters
- p.Thr1498Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr1509Arg Multiple submitters
- p.Thr1509Met Multiple submitters ITPR1-related disorder
- p.Thr1913Pro Multiple submitters ⚠
- p.Thr216Ile Multiple submitters ⚠
- p.Thr2348Ala Multiple submitters
- p.Thr2361Met Multiple submitters Inborn genetic diseases
- p.Thr2528Met Multiple submitters ⚠
- p.Thr2718Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr485Ser Multiple submitters Inborn genetic diseases
- p.Thr800Asn Multiple submitters Inborn genetic diseases
- p.Thr83Ser Multiple submitters Inborn genetic diseases
- p.Thr903Ala Multiple submitters Inborn genetic diseases
- p.Tyr844Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val1034Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val1306Ile Multiple submitters Inborn genetic diseases
- p.Val1353Met Multiple submitters ⚠
- p.Val1416Ile Multiple submitters ⚠
- p.Val1528Ala Multiple submitters Inborn genetic diseases
- p.Val1756Ala Multiple submitters ⚠
- p.Val2038Ile Multiple submitters Inborn genetic diseases
- p.Val212Ile Multiple submitters
- p.Val2273Met Multiple submitters spinocerebellar ataxia type 29 ⚠
- p.Val2544Ile Multiple submitters Inborn genetic diseases
- p.Val2654Ile Multiple submitters
- p.Val356Gly Multiple submitters Inborn genetic diseases
- p.Val414Met Multiple submitters ⚠
- p.Val498Phe Multiple submitters ⚠
- p.Val730Ile Multiple submitters ⚠
- p.Val937Met Multiple submitters
- p.Val977Ile Multiple submitters autosomal dominant cerebellar ataxia
- p.Val994Met Multiple submitters Inborn genetic diseases
- c.1151+3A>G Single submitter
- c.1152-7C>T Single submitter
- c.1252-10T>A Single submitter spinocerebellar ataxia type 29
- c.1412+11_1412+12delinsTT Single submitter
- c.1412+6C>T Single submitter autosomal dominant cerebellar ataxia
- c.1413-5C>T Single submitter
- c.1555-3C>A Single submitter
- c.164-3T>C Single submitter
- c.1886+28_1886+54del Single submitter
- c.1886+6G>T Single submitter
- c.1886+7C>G Single submitter
- c.2006+13C>A Single submitter autosomal dominant cerebellar ataxia
- c.2204+14_2204+44del Single submitter
- c.2204+4C>T Single submitter
- c.2456+6C>T Single submitter
- c.2457-3C>G Single submitter
- c.2780-3T>C Single submitter Inborn genetic diseases
- c.2780-8T>C Single submitter
- c.279+4C>T Single submitter
- c.2967+5C>A Single submitter
- c.3161+3A>G Single submitter
- c.3161+7A>G Single submitter
- c.3161+7A>T Single submitter
- c.3162-9C>T Single submitter autosomal dominant cerebellar ataxia
- c.3327+10G>T Single submitter autosomal dominant cerebellar ataxia
- c.3327+4G>T Single submitter
- c.3564+3A>G Single submitter Inborn genetic diseases
- c.366+4G>A Single submitter Inborn genetic diseases
- c.366+6T>A Single submitter
- c.367-20T>G Single submitter
- c.3702+6C>T Single submitter
- c.3828+6A>T Single submitter
- c.4030-1055G>A Single submitter aniridia-cerebellar ataxia-intellectual disability syndrome
- c.4030-3T>C Single submitter
- c.4403_4407+2del Single submitter
- c.4407+6G>A Single submitter
- c.4407+7C>T Single submitter
- c.4408-3C>T Single submitter
- c.4536+3A>T Single submitter
- c.4842+3A>C Single submitter
- c.4991+6C>T Single submitter
- c.5103+2T>C Single submitter Paediatric disorders
- c.5104-1G>A Single submitter
- c.5104-5T>G Single submitter
- c.5353+3A>G Single submitter
- c.5725+15G>A Single submitter autosomal dominant cerebellar ataxia
- c.5725+4A>T Single submitter
- c.5725+5A>G Single submitter
- c.6180+6T>G Single submitter
- c.6291+2C>T Single submitter
- c.6292-5A>G Single submitter
- c.6292-8C>G Single submitter
- c.6387+5G>T Single submitter
- c.6510+67G>T Single submitter
- c.6615+8C>T Single submitter spinocerebellar ataxia type 15/16
- c.6931+6C>T Single submitter
- c.7108-3C>T Single submitter
- c.7562-3C>T Single submitter
- c.8028+6T>A Single submitter
- c.8191-10_8191-7dup Single submitter