ITPR2 — 342 ClinVar variants
All ClinVar germline ITPR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →
2 Pathogenic · 2 Conflicting · 19 Benign · 3 Benign/Likely benign · 54 Likely benign · 262 Uncertain significance
Full ITPR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 146
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 117
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ITPR2 p.Ala1007Val Uncertain significance Single submitter
- ITPR2 p.Ala1651Thr Uncertain significance Single submitter
- ITPR2 p.Ala1906Thr Uncertain significance Single submitter
- ITPR2 p.Ala2245Pro Uncertain significance Single submitter
- ITPR2 p.Ala2272Val Uncertain significance Single submitter
- ITPR2 p.Ala75Val Uncertain significance Single submitter
- ITPR2 p.Ala776Val Uncertain significance Single submitter
- ITPR2 p.Ala96Val Uncertain significance Single submitter
- ITPR2 p.Arg1188Trp Uncertain significance Single submitter
- ITPR2 p.Arg1247Gln Uncertain significance Single submitter
- ITPR2 p.Arg1849Gln Uncertain significance Single submitter
- ITPR2 p.Arg1941Gly Uncertain significance Single submitter
- ITPR2 p.Arg2174Gln Uncertain significance Single submitter
- ITPR2 p.Arg2393Cys Uncertain significance Single submitter
- ITPR2 p.Arg2517Gln Uncertain significance Single submitter
- ITPR2 p.Arg269Cys Uncertain significance Single submitter
- ITPR2 p.Arg293Leu Uncertain significance Single submitter
- ITPR2 p.Arg505His Uncertain significance Single submitter
- ITPR2 p.Arg558Ser Uncertain significance Single submitter
- ITPR2 p.Arg623Trp Uncertain significance Single submitter
- ITPR2 p.Arg744His Uncertain significance Single submitter
- ITPR2 p.Arg775Gln Uncertain significance Single submitter
- ITPR2 p.Asn1135Lys Uncertain significance Single submitter
- ITPR2 p.Asn1227Ser Uncertain significance Single submitter
- ITPR2 p.Asn1236His Uncertain significance Single submitter
- ITPR2 p.Asn1463Ser Uncertain significance Single submitter
- ITPR2 p.Asn1498Ser Uncertain significance Single submitter
- ITPR2 p.Asn1521Ser Uncertain significance Single submitter
- ITPR2 p.Asn1569Asp Uncertain significance Single submitter
- ITPR2 p.Asn156Thr Uncertain significance Single submitter
- ITPR2 p.Asn1601Thr Uncertain significance Single submitter
- ITPR2 p.Asn1986Ser Uncertain significance Single submitter
- ITPR2 p.Asn2107Ile Uncertain significance Single submitter
- ITPR2 p.Asn2588Ser Uncertain significance Single submitter
- ITPR2 p.Asn513Ile Uncertain significance Single submitter
- ITPR2 p.Asp1320His Uncertain significance Single submitter
- ITPR2 p.Asp1348Glu Uncertain significance Single submitter
- ITPR2 p.Asp2542Asn Uncertain significance Single submitter
- ITPR2 p.Asp2640Asn Uncertain significance Single submitter
- ITPR2 p.Asp378Gly Uncertain significance Single submitter
-
ITPR2 p.Asp632Tyr
Uncertain significance
Single submitter
isolated anhidrosis with normal sweat glands
- ITPR2 p.Asp687Glu Uncertain significance Single submitter
- ITPR2 p.Cys1246Ser Uncertain significance Single submitter
- ITPR2 p.Cys2457Ser Uncertain significance Single submitter
- ITPR2 p.Gln1725Leu Uncertain significance Single submitter
- ITPR2 p.Glu1229Ala Uncertain significance Single submitter
- ITPR2 p.Glu1665Lys Uncertain significance Single submitter
- ITPR2 p.Glu1903Ala Uncertain significance Single submitter
- ITPR2 p.Gly1142Arg Uncertain significance Single submitter
- ITPR2 p.Gly1388Trp Uncertain significance Single submitter
- ITPR2 p.Gly1489Ser Uncertain significance Single submitter
- ITPR2 p.His1063Leu Uncertain significance Single submitter
- ITPR2 p.His1357Tyr Uncertain significance Single submitter
- ITPR2 p.His1505Arg Uncertain significance Single submitter
- ITPR2 p.His1615Asp Uncertain significance Single submitter
- ITPR2 p.His194Tyr Uncertain significance Single submitter
- ITPR2 p.His2010Arg Uncertain significance Single submitter
- ITPR2 p.His2363Arg Uncertain significance Single submitter
- ITPR2 p.Ile1023Thr Uncertain significance Single submitter
- ITPR2 p.Ile1153Thr Uncertain significance Single submitter
- ITPR2 p.Ile1889Val Uncertain significance Single submitter
- ITPR2 p.Ile2018Asn Uncertain significance Single submitter
- ITPR2 p.Ile2168Thr Uncertain significance Single submitter
- ITPR2 p.Ile2530Asn Uncertain significance Single submitter
- ITPR2 p.Ile2583Val Uncertain significance Single submitter
- ITPR2 p.Ile363Leu Uncertain significance Single submitter
- ITPR2 p.Ile683Leu Uncertain significance Single submitter
- ITPR2 p.Ile709Val Uncertain significance Single submitter
- ITPR2 p.Ile807Val Uncertain significance Single submitter
- ITPR2 p.Ile813Val Uncertain significance Single submitter
- ITPR2 p.Ile819Val Uncertain significance Single submitter
- ITPR2 p.Ile872Lys Uncertain significance Single submitter
- ITPR2 p.Ile892Thr Uncertain significance Single submitter
- ITPR2 p.Ile938Val Uncertain significance Single submitter
- ITPR2 p.Leu1116Gln Uncertain significance Single submitter
- ITPR2 p.Leu1313Trp Uncertain significance Single submitter
- ITPR2 p.Leu200Val Uncertain significance Single submitter
- ITPR2 p.Leu2278Pro Uncertain significance Single submitter
- ITPR2 p.Leu2482Pro Uncertain significance Single submitter
- ITPR2 p.Leu555Phe Uncertain significance Single submitter
- ITPR2 p.Leu977Val Uncertain significance Single submitter
-
ITPR2 p.Lys181Glu
Uncertain significance
Single submitter
intellectual disability
- ITPR2 p.Lys2575Arg Uncertain significance Single submitter
- ITPR2 p.Met1570Thr Uncertain significance Single submitter
- ITPR2 p.Met1653Val Uncertain significance Single submitter
- ITPR2 p.Met1850Ile Uncertain significance Single submitter
- ITPR2 p.Met679Val Uncertain significance Single submitter
- ITPR2 p.Met941Ile Uncertain significance Single submitter
- ITPR2 p.Met941Val Uncertain significance Single submitter
- ITPR2 p.Met992Val Uncertain significance Single submitter
- ITPR2 p.Phe1278Leu Uncertain significance Single submitter
- ITPR2 p.Phe166Leu Uncertain significance Single submitter
- ITPR2 p.Pro1402Leu Uncertain significance Single submitter
- ITPR2 p.Pro2459Ala Uncertain significance Single submitter
- ITPR2 p.Pro958Ser Uncertain significance Single submitter
- ITPR2 p.Ser1289Asn Uncertain significance Single submitter
- ITPR2 p.Ser1501Gly Uncertain significance Single submitter
- ITPR2 p.Ser1566Asn Uncertain significance Single submitter
- ITPR2 p.Ser1654Leu Uncertain significance Single submitter
- ITPR2 p.Ser2437Asn Uncertain significance Single submitter
- ITPR2 p.Ser2641Gly Uncertain significance Single submitter
- ITPR2 p.Ser2655Leu Uncertain significance Single submitter
- ITPR2 p.Ser949Asn Uncertain significance Single submitter
- ITPR2 p.Thr1166Ser Uncertain significance Single submitter
- ITPR2 p.Thr1789Ala Uncertain significance Single submitter
- ITPR2 p.Thr1845Ile Uncertain significance Single submitter
- ITPR2 p.Thr1856Ile Uncertain significance Single submitter
- ITPR2 p.Thr266Met Uncertain significance Single submitter
- ITPR2 p.Thr373Ala Uncertain significance Single submitter
- ITPR2 p.Thr499Asn Uncertain significance Single submitter
- ITPR2 p.Tyr2352Cys Uncertain significance Single submitter
- ITPR2 p.Val1097Met Uncertain significance Single submitter
- ITPR2 p.Val1216Ala Uncertain significance Single submitter
- ITPR2 p.Val1407Leu Uncertain significance Single submitter
- ITPR2 p.Val1712Glu Uncertain significance Single submitter
- ITPR2 p.Val559Ile Uncertain significance Single submitter
- ITPR2 p.Val693Gly Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- ITPR2 p.Ala524Thr Uncertain significance Single submitter
- ITPR2 p.Arg1275Trp Uncertain significance Single submitter
- ITPR2 p.Arg2288Gln Uncertain significance Single submitter
- ITPR2 p.Arg2335His Uncertain significance Single submitter
- ITPR2 p.Arg626Gln Uncertain significance Single submitter
- ITPR2 p.Arg780Cys Uncertain significance Single submitter
- ITPR2 p.Asn1281Ser Uncertain significance Single submitter
- ITPR2 p.Cys1747Gly Uncertain significance Single submitter
- ITPR2 p.Gln565Lys Uncertain significance Single submitter
- ITPR2 p.Gln755Arg Uncertain significance Single submitter
- ITPR2 p.Glu1290Lys Uncertain significance Single submitter
- ITPR2 p.His2696Leu Uncertain significance Single submitter
- ITPR2 p.Ile2108Met Uncertain significance Single submitter
- ITPR2 p.Leu1049Phe Uncertain significance Single submitter
- ITPR2 p.Leu1989Val Uncertain significance Single submitter
- ITPR2 p.Leu2663Val Uncertain significance Single submitter
- ITPR2 p.Lys1530Asn Uncertain significance Single submitter
- ITPR2 p.Met1484Ile Conflicting Single submitter
- ITPR2 p.Met63Val Uncertain significance Single submitter
- ITPR2 p.Pro899Arg Uncertain significance Single submitter
- ITPR2 p.Ser105Leu Uncertain significance Single submitter
- ITPR2 p.Ser1176Arg Uncertain significance Single submitter
- ITPR2 p.Ser2260Pro Uncertain significance Single submitter
- ITPR2 p.Ser880Cys Uncertain significance Single submitter
- ITPR2 p.Trp1597Cys Uncertain significance Single submitter
- ITPR2 p.Tyr162Cys Uncertain significance Single submitter
- ITPR2 p.Val496Met Uncertain significance Single submitter
- ITPR2 p.Val497Phe Uncertain significance Single submitter
All ITPR2 variants
Pathogenic 2
- p.Ala2463_Ser2464insTer No assertion criteria familial hypercholesterolemia
- p.Gly2498Ser No assertion criteria isolated anhidrosis with normal sweat glands
Conflicting classifications of pathogenicity 2
- p.Asn1485Tyr Single submitter ⚠
- p.Met1484Ile Single submitter ⚠
Benign 19
- c.3801+23G>A Multiple submitters isolated anhidrosis with normal sweat glands
- c.5073+10T>A Multiple submitters
- c.93-10T>A Multiple submitters isolated anhidrosis with normal sweat glands
- p.Ala1898Val Multiple submitters
- p.Asn461= Multiple submitters
- p.Asp1413= Multiple submitters isolated anhidrosis with normal sweat glands
- p.Glu255= Multiple submitters isolated anhidrosis with normal sweat glands
- p.Gly25= Multiple submitters
- p.His961= Multiple submitters isolated anhidrosis with normal sweat glands
- p.Lys1469= Multiple submitters isolated anhidrosis with normal sweat glands
- p.Ser1654= Multiple submitters
- p.Ser685= Multiple submitters isolated anhidrosis with normal sweat glands
- c.6123+4G>A Single submitter
- p.Ser1289= Single submitter
- c.2590-8_2590-7dup No assertion criteria ITPR2-related disorder
- c.279+6G>C No assertion criteria ITPR2-related disorder
- p.Ala898= No assertion criteria ITPR2-related disorder
- p.Ser635= No assertion criteria ITPR2-related disorder
- p.Thr754= No assertion criteria ITPR2-related disorder
Benign/Likely benign 3
- p.Leu756= Multiple submitters
- p.Thr2184Ser Multiple submitters isolated anhidrosis with normal sweat glands
- p.Val518Ile Multiple submitters
Likely benign 54
- p.Arg1180Gln Multiple submitters
- p.Arg1275Gln Multiple submitters
- c.1887-5G>T Single submitter
- c.2445-12C>T Single submitter
- c.2589+4C>G Single submitter
- c.2590-20G>A Single submitter
- c.2590-7del Single submitter
- c.2740+10T>C Single submitter
- c.3289-9C>G Single submitter
- c.3463-19A>T Single submitter
- c.3801+12A>G Single submitter
- c.6123+19T>G Single submitter
- c.6220-7dup Single submitter
- c.625-17C>T Single submitter
- c.6450+11A>G Single submitter
- c.6451-19T>A Single submitter
- c.7531-18dup Single submitter
- c.7531-18T>A Single submitter
- p.Ala1596Ser Single submitter
- p.Ala1983Val Single submitter
- p.Arg2156= Single submitter
- p.Asn1006Asp Single submitter
- p.Asn1135Ser Single submitter
- p.Asn1196= Single submitter
- p.Asn24Ser Single submitter
- p.Asp1050= Single submitter
- p.Cys1522= Single submitter
- p.Gln71= Single submitter
- p.Gly1142= Single submitter
- p.Gly1847= Single submitter
- p.Ile2294Val Single submitter
- p.Ile431= Single submitter
- p.Leu1378= Single submitter
- p.Leu1857= Single submitter
- p.Lys76= Single submitter
- p.Phe2322= Single submitter
- p.Pro1402= Single submitter
- p.Pro2261= Single submitter
- p.Ser934= Single submitter
- p.Thr2332= Single submitter
- p.Thr643= Single submitter
- p.Tyr2032= Single submitter
- p.Val619= Single submitter
- p.Val964= Single submitter
- c.3122+4T>C No assertion criteria ITPR2-related disorder
- c.3552+3C>T No assertion criteria ITPR2-related disorder
- c.4381-8C>T No assertion criteria ITPR2-related disorder
- p.Ala2112= No assertion criteria ITPR2-related disorder
- p.Asp2103= No assertion criteria ITPR2-related disorder
- p.Glu815= No assertion criteria ITPR2-related disorder
- p.Phe1958= No assertion criteria ITPR2-related disorder
- p.Phe772= No assertion criteria ITPR2-related disorder
- p.Pro165= No assertion criteria ITPR2-related disorder
- p.Ser942= No assertion criteria ITPR2-related disorder
Uncertain significance 262
- p.Val1162Gly Multiple submitters
- p.Ala1007Val Single submitter ⚠
- p.Ala1544Val Single submitter
- p.Ala1651Thr Single submitter ⚠
- p.Ala1906Thr Single submitter ⚠
- p.Ala2218Thr Single submitter
- p.Ala2245Pro Single submitter ⚠
- p.Ala2272Val Single submitter ⚠
- p.Ala524Thr Single submitter ⚠
- p.Ala75Val Single submitter ⚠
- p.Ala776Val Single submitter ⚠
- p.Ala87Val Single submitter
- p.Ala96Val Single submitter ⚠
- p.Arg1180Trp Single submitter
- p.Arg1188Trp Single submitter ⚠
- p.Arg1247Gln Single submitter ⚠
- p.Arg1247Pro Single submitter
- p.Arg1275Trp Single submitter ⚠
- p.Arg1305Cys Single submitter
- p.Arg1305His Single submitter
- p.Arg1468Gly Single submitter
- p.Arg1468Lys Single submitter
- p.Arg1547His Single submitter
- p.Arg1583His Single submitter
- p.Arg1587Cys Single submitter
- p.Arg1587His Single submitter
- p.Arg1822Ser Single submitter
- p.Arg1849Gln Single submitter ⚠
- p.Arg1849Pro Single submitter
- p.Arg1851Thr Single submitter
- p.Arg1883Lys Single submitter
- p.Arg1941Gly Single submitter ⚠
- p.Arg2033Gln Single submitter
- p.Arg2174Gln Single submitter ⚠
- p.Arg2288Gln Single submitter ⚠
- p.Arg230Gly Single submitter
- p.Arg2330His Single submitter
- p.Arg2335His Single submitter ⚠
- p.Arg2393Cys Single submitter ⚠
- p.Arg2477Gly Single submitter
- p.Arg2517Gln Single submitter ⚠
- p.Arg269Cys Single submitter ⚠
- p.Arg293Leu Single submitter ⚠
- p.Arg344His Single submitter
- p.Arg344Ser Single submitter
- p.Arg505His Single submitter ⚠
- p.Arg558Ser Single submitter ⚠
- p.Arg623Trp Single submitter ⚠
- p.Arg626Gln Single submitter ⚠
- p.Arg626Trp Single submitter
- p.Arg744His Single submitter ⚠
- p.Arg775Gln Single submitter ⚠
- p.Arg780Cys Single submitter ⚠
- p.Arg799Cys Single submitter
- p.Arg799His Single submitter
- p.Arg935Gly Single submitter
- p.Arg988Lys Single submitter
- p.Asn1135Lys Single submitter ⚠
- p.Asn1227Ser Single submitter ⚠
- p.Asn1236His Single submitter ⚠
- p.Asn1281Ser Single submitter ⚠
- p.Asn135Ser Single submitter
- p.Asn1463Ser Single submitter ⚠
- p.Asn1498Ser Single submitter ⚠
- p.Asn1521Ser Single submitter ⚠
- p.Asn1569Asp Single submitter ⚠
- p.Asn156Thr Single submitter ⚠
- p.Asn1601Thr Single submitter ⚠
- p.Asn1986Ser Single submitter ⚠
- p.Asn2107Ile Single submitter ⚠
- p.Asn2205Asp Single submitter
- p.Asn2588Ser Single submitter ⚠
- p.Asn319Asp Single submitter
- p.Asn513Ile Single submitter ⚠
- p.Asp1320His Single submitter ⚠
- p.Asp1348Glu Single submitter ⚠
- p.Asp1457Glu Single submitter
- p.Asp1760Asn Single submitter
- p.Asp1838Gly Single submitter
- p.Asp2035Asn Single submitter
- p.Asp2091Val Single submitter
- p.Asp2195Tyr Single submitter
- p.Asp2510Asn Single submitter
- p.Asp2542Asn Single submitter ⚠
- p.Asp2640Asn Single submitter ⚠
- p.Asp321Gly Single submitter
- p.Asp378Gly Single submitter ⚠
- p.Asp45Asn Single submitter
- p.Asp566Asn Single submitter
- p.Asp632Tyr Single submitter isolated anhidrosis with normal sweat glands ⚠
- p.Asp687Glu Single submitter ⚠
- p.Asp854Asn Single submitter
- p.Cys1199Gly Single submitter
- p.Cys1246Ser Single submitter ⚠
- p.Cys1327Ser Single submitter
- p.Cys1747Gly Single submitter ⚠
- p.Cys1879Gly Single submitter
- p.Cys2087Tyr Single submitter
- p.Cys2457Ser Single submitter ⚠
- p.Gln1145Lys Single submitter
- p.Gln1202Glu Single submitter
- p.Gln1725Leu Single submitter ⚠
- p.Gln2643Pro Single submitter
- p.Gln565His Single submitter
- p.Gln565Lys Single submitter ⚠
- p.Gln755Arg Single submitter ⚠
- p.Glu1143Lys Single submitter
- p.Glu1229Ala Single submitter ⚠
- p.Glu1290Lys Single submitter ⚠
- p.Glu1308Lys Single submitter
- p.Glu1481Gly Single submitter
- p.Glu1665Lys Single submitter ⚠
- p.Glu1691Lys Single submitter
- p.Glu1861Asp Single submitter
- p.Glu1903Ala Single submitter ⚠
- p.Glu2568Ala Single submitter
- p.Glu492Asp Single submitter
- p.Glu680Lys Single submitter
- p.Gly1142Arg Single submitter ⚠
- p.Gly1388Trp Single submitter ⚠
- p.Gly1489Ser Single submitter ⚠
- p.Gly1739Arg Single submitter
- p.Gly1774Ala Single submitter
- p.Gly1968Ser Single submitter
- p.Gly719Val Single submitter
- p.Gly853Ala Single submitter
- p.His1063Leu Single submitter ⚠
- p.His1203Leu Single submitter
- p.His1259Tyr Single submitter
- p.His1357Tyr Single submitter ⚠
- p.His1412Tyr Single submitter
- p.His1505Arg Single submitter ⚠
- p.His1615Asp Single submitter ⚠
- p.His194Tyr Single submitter ⚠
- p.His2001Leu Single submitter
- p.His2010Arg Single submitter ⚠
- p.His2363Arg Single submitter ⚠
- p.His2696Leu Single submitter ⚠
- p.Ile1023Thr Single submitter ⚠
- p.Ile1062Leu Single submitter
- p.Ile1153Thr Single submitter ⚠
- p.Ile1406Leu Single submitter
- p.Ile1603Thr Single submitter
- p.Ile1889Val Single submitter ⚠
- p.Ile2018Asn Single submitter ⚠
- p.Ile2108Met Single submitter ⚠
- p.Ile2168Thr Single submitter ⚠
- p.Ile2530Asn Single submitter ⚠
- p.Ile2583Val Single submitter ⚠
- p.Ile2596Thr Single submitter
- p.Ile363Leu Single submitter ⚠
- p.Ile403Ser Single submitter
- p.Ile405Val Single submitter
- p.Ile683Leu Single submitter ⚠
- p.Ile709Val Single submitter ⚠
- p.Ile807Val Single submitter ⚠
- p.Ile813Val Single submitter ⚠
- p.Ile819Val Single submitter ⚠
- p.Ile872Lys Single submitter ⚠
- p.Ile892Thr Single submitter ⚠
- p.Ile892Val Single submitter
- p.Ile938Val Single submitter ⚠
- p.Leu1049Phe Single submitter ⚠
- p.Leu1116Gln Single submitter ⚠
- p.Leu1219Ile Single submitter isolated anhidrosis with normal sweat glands
- p.Leu1313Trp Single submitter ⚠
- p.Leu1936Phe Single submitter
- p.Leu1989Val Single submitter ⚠
- p.Leu200Val Single submitter ⚠
- p.Leu2278Pro Single submitter ⚠
- p.Leu2445Ser Single submitter
- p.Leu2482Pro Single submitter ⚠
- p.Leu2623Phe Single submitter
- p.Leu2663Val Single submitter ⚠
- p.Leu555Phe Single submitter ⚠
- p.Leu712Phe Single submitter
- p.Leu977Val Single submitter ⚠
- p.Lys1168Glu Single submitter
- p.Lys1197Arg Single submitter
- p.Lys1230Asn Single submitter
- p.Lys1530Asn Single submitter ⚠
- p.Lys181Glu Single submitter intellectual disability ⚠
- p.Lys2454Glu Single submitter
- p.Lys2575Arg Single submitter ⚠
- p.Lys717Glu Single submitter
- p.Lys721Asn Single submitter
- p.Lys997Arg Single submitter
- p.Met1235Val Single submitter
- p.Met1570Thr Single submitter ⚠
- p.Met1653Thr Single submitter
- p.Met1653Val Single submitter ⚠
- p.Met1850Ile Single submitter ⚠
- p.Met1911Ile Single submitter
- p.Met2125Val Single submitter
- p.Met2344Val Single submitter
- p.Met2443Arg Single submitter
- p.Met63Val Single submitter ⚠
- p.Met673Val Single submitter isolated anhidrosis with normal sweat glands
- p.Met679Val Single submitter ⚠
- p.Met941Ile Single submitter ⚠
- p.Met941Val Single submitter ⚠
- p.Met992Val Single submitter ⚠
- p.Phe1000Ser Single submitter
- p.Phe1278Leu Single submitter ⚠
- p.Phe1491Leu Single submitter
- p.Phe166Leu Single submitter ⚠
- p.Pro1402Leu Single submitter ⚠
- p.Pro2433His Single submitter
- p.Pro2459Ala Single submitter ⚠
- p.Pro704Ala Single submitter
- p.Pro704Leu Single submitter
- p.Pro704Thr Single submitter
- p.Pro899Arg Single submitter ⚠
- p.Pro958Ser Single submitter ⚠
- p.Ser105Leu Single submitter ⚠
- p.Ser1173Gly Single submitter isolated anhidrosis with normal sweat glands
- p.Ser1176Arg Single submitter ⚠
- p.Ser1289Asn Single submitter ⚠
- p.Ser1501Gly Single submitter ⚠
- p.Ser1566Asn Single submitter ⚠
- p.Ser1643Arg Single submitter
- p.Ser1654Leu Single submitter ⚠
- p.Ser1731Pro Single submitter
- p.Ser2231Asn Single submitter
- p.Ser2260Pro Single submitter ⚠
- p.Ser228Phe Single submitter
- p.Ser2437Asn Single submitter ⚠
- p.Ser2549Gly Single submitter
- p.Ser2641Gly Single submitter ⚠
- p.Ser2655Leu Single submitter ⚠
- p.Ser880Cys Single submitter ⚠
- p.Ser949Asn Single submitter ⚠
- p.Thr1166Ser Single submitter ⚠
- p.Thr1789Ala Single submitter ⚠
- p.Thr1829Ile Single submitter
- p.Thr1845Ile Single submitter ⚠
- p.Thr1856Ile Single submitter ⚠
- p.Thr2478Met Single submitter
- p.Thr2478Ser Single submitter
- p.Thr266Met Single submitter ⚠
- p.Thr373Ala Single submitter ⚠
- p.Thr499Asn Single submitter ⚠
- p.Thr809Lys Single submitter
- p.Thr929Ser Single submitter
- p.Trp1597Cys Single submitter ⚠
- p.Tyr162Cys Single submitter ⚠
- p.Tyr1720Asp Single submitter
- p.Tyr2352Cys Single submitter ⚠
- p.Tyr996Cys Single submitter
- p.Val1097Met Single submitter ⚠
- p.Val1216Ala Single submitter ⚠
- p.Val1407Leu Single submitter ⚠
- p.Val1627Met Single submitter
- p.Val1712Glu Single submitter ⚠
- p.Val233Leu Single submitter
- p.Val496Met Single submitter ⚠
- p.Val497Phe Single submitter ⚠
- p.Val559Ile Single submitter ⚠
- p.Val693Gly Single submitter ⚠
- p.Val795Met Single submitter
- p.Val845Ile Single submitter
- p.His261fs No assertion criteria ITPR2-related disorder