DNAJC13 — 413 ClinVar variants
All ClinVar germline DNAJC13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 240 flagged for review →
2 Conflicting · 129 Benign · 9 Benign/Likely benign · 40 Likely benign · 233 Uncertain significance
Full DNAJC13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 240
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 lean, ClinVar uncertain 148
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DNAJC13 p.Ile2055Leu
Uncertain significance
Multiple submitters
DNAJC13-related disorder
- DNAJC13 p.Leu1834Val Uncertain significance Multiple submitters
- DNAJC13 p.Met688Val Uncertain significance Multiple submitters
-
DNAJC13 p.Thr66Met
Uncertain significance
Multiple submitters
DNAJC13-related disorder
- DNAJC13 p.Ala1541Gly Uncertain significance Single submitter
- DNAJC13 p.Ala1598Thr Uncertain significance Single submitter
- DNAJC13 p.Ala1618Val Uncertain significance Single submitter
- DNAJC13 p.Ala1711Val Uncertain significance Single submitter
- DNAJC13 p.Ala2037Thr Uncertain significance Single submitter
- DNAJC13 p.Ala2153Val Uncertain significance Single submitter
- DNAJC13 p.Ala423Val Uncertain significance Single submitter
- DNAJC13 p.Ala646Ser Uncertain significance Single submitter
- DNAJC13 p.Ala704Val Uncertain significance Single submitter
- DNAJC13 p.Ala708Val Uncertain significance Single submitter
- DNAJC13 p.Ala756Gly Uncertain significance Single submitter
- DNAJC13 p.Ala965Ser Uncertain significance Single submitter
- DNAJC13 p.Ala97Thr Uncertain significance Single submitter
- DNAJC13 p.Arg1069Trp Uncertain significance Single submitter
- DNAJC13 p.Arg1400Gln Uncertain significance Single submitter
- DNAJC13 p.Arg1997Ile Uncertain significance Single submitter
- DNAJC13 p.Arg2061Trp Uncertain significance Single submitter
- DNAJC13 p.Arg2168Gly Uncertain significance Single submitter
- DNAJC13 p.Arg222Cys Uncertain significance Single submitter
- DNAJC13 p.Arg265His Uncertain significance Single submitter
- DNAJC13 p.Arg73Cys Uncertain significance Single submitter
- DNAJC13 p.Arg746Gln Uncertain significance Single submitter
- DNAJC13 p.Asn1113Asp Uncertain significance Single submitter
- DNAJC13 p.Asn1254Ser Uncertain significance Single submitter
- DNAJC13 p.Asn1307Asp Uncertain significance Single submitter
- DNAJC13 p.Asn1307Ser Uncertain significance Single submitter
- DNAJC13 p.Asn1381Lys Uncertain significance Single submitter
- DNAJC13 p.Asn1634Asp Uncertain significance Single submitter
- DNAJC13 p.Asn422Asp Uncertain significance Single submitter
- DNAJC13 p.Asn510Asp Uncertain significance Single submitter
- DNAJC13 p.Asp1668Val Uncertain significance Single submitter
- DNAJC13 p.Asp1932Glu Uncertain significance Single submitter
- DNAJC13 p.Asp2238His Uncertain significance Single submitter
- DNAJC13 p.Asp520Val Uncertain significance Single submitter
- DNAJC13 p.Asp932Glu Uncertain significance Single submitter
- DNAJC13 p.Cys1253Tyr Uncertain significance Single submitter
- DNAJC13 p.Cys1505Ser Uncertain significance Single submitter
- DNAJC13 p.Cys1669Trp Uncertain significance Single submitter
- DNAJC13 p.Cys1770Gly Uncertain significance Single submitter
- DNAJC13 p.Cys1770Tyr Uncertain significance Single submitter
- DNAJC13 p.Cys286Tyr Uncertain significance Single submitter
- DNAJC13 p.Cys904Tyr Uncertain significance Single submitter
- DNAJC13 p.Gln1111Glu Uncertain significance Single submitter
- DNAJC13 p.Gln1115Arg Uncertain significance Single submitter
- DNAJC13 p.Gln1160Pro Uncertain significance Single submitter
- DNAJC13 p.Gln1472Lys Uncertain significance Single submitter
- DNAJC13 p.Gln292Glu Uncertain significance Single submitter
- DNAJC13 p.Gln341Leu Uncertain significance Single submitter
- DNAJC13 p.Glu1338Gly Uncertain significance Single submitter
- DNAJC13 p.Glu1654Ala Uncertain significance Single submitter
- DNAJC13 p.Glu1740Asp Uncertain significance Single submitter
- DNAJC13 p.Glu1948Gln Uncertain significance Single submitter
- DNAJC13 p.Glu237Gln Uncertain significance Single submitter
- DNAJC13 p.Glu424Val Uncertain significance Single submitter
- DNAJC13 p.Glu557Asp Uncertain significance Single submitter
- DNAJC13 p.Glu789Gln Uncertain significance Single submitter
- DNAJC13 p.Glu843Asp Uncertain significance Single submitter
- DNAJC13 p.Glu886Lys Uncertain significance Single submitter
- DNAJC13 p.Gly1133Asp Uncertain significance Single submitter
- DNAJC13 p.Gly158Arg Uncertain significance Single submitter
- DNAJC13 p.Gly2214Val Uncertain significance Single submitter
- DNAJC13 p.His1315Gln Uncertain significance Single submitter
- DNAJC13 p.His1537Gln Uncertain significance Single submitter
- DNAJC13 p.His1733Tyr Uncertain significance Single submitter
- DNAJC13 p.His1784Arg Uncertain significance Single submitter
- DNAJC13 p.His1923Asp Uncertain significance Single submitter
-
DNAJC13 p.His33Arg
Uncertain significance
Single submitter
DNAJC13-related disorder
- DNAJC13 p.His33Gln Uncertain significance Single submitter
- DNAJC13 p.His769Arg Uncertain significance Single submitter
- DNAJC13 p.Ile1023Val Uncertain significance Single submitter
- DNAJC13 p.Ile1047Thr Uncertain significance Single submitter
- DNAJC13 p.Ile109Val Uncertain significance Single submitter
- DNAJC13 p.Ile1162Val Uncertain significance Single submitter
- DNAJC13 p.Ile1369Thr Uncertain significance Single submitter
- DNAJC13 p.Ile1664Phe Uncertain significance Single submitter
- DNAJC13 p.Ile1687Thr Uncertain significance Single submitter
-
DNAJC13 p.Ile1691Val
Uncertain significance
Single submitter
DNAJC13-related disorder
- DNAJC13 p.Ile171Val Uncertain significance Single submitter
- DNAJC13 p.Ile1771Thr Uncertain significance Single submitter
- DNAJC13 p.Ile1799Val Uncertain significance Single submitter
- DNAJC13 p.Ile195Arg Uncertain significance Single submitter
- DNAJC13 p.Ile202Leu Uncertain significance Single submitter
- DNAJC13 p.Ile202Val Uncertain significance Single submitter
- DNAJC13 p.Ile827Val Uncertain significance Single submitter
- DNAJC13 p.Ile888Val Uncertain significance Single submitter
- DNAJC13 p.Leu1046Val Uncertain significance Single submitter
- DNAJC13 p.Leu1226Val Uncertain significance Single submitter
- DNAJC13 p.Leu1547Pro Uncertain significance Single submitter
- DNAJC13 p.Leu179Ser Uncertain significance Single submitter
- DNAJC13 p.Leu1819Phe Uncertain significance Single submitter
- DNAJC13 p.Leu651Trp Uncertain significance Single submitter
- DNAJC13 p.Lys1319Arg Uncertain significance Single submitter
- DNAJC13 p.Lys1881Arg Uncertain significance Single submitter
- DNAJC13 p.Lys1998Arg Uncertain significance Single submitter
- DNAJC13 p.Lys305Arg Uncertain significance Single submitter
- DNAJC13 p.Lys505Glu Uncertain significance Single submitter
- DNAJC13 p.Met1851Thr Uncertain significance Single submitter
- DNAJC13 p.Met1908Val Uncertain significance Single submitter
- DNAJC13 p.Met2225Leu Uncertain significance Single submitter
- DNAJC13 p.Met348Val Uncertain significance Single submitter
- DNAJC13 p.Met724Ile Uncertain significance Single submitter
- DNAJC13 p.Phe1196Tyr Uncertain significance Single submitter
- DNAJC13 p.Phe1532Cys Uncertain significance Single submitter
- DNAJC13 p.Phe694Tyr Uncertain significance Single submitter
- DNAJC13 p.Phe765Ser Uncertain significance Single submitter
- DNAJC13 p.Pro1138Leu Uncertain significance Single submitter
- DNAJC13 p.Pro1515Leu Uncertain significance Single submitter
- DNAJC13 p.Pro2046Leu Uncertain significance Single submitter
- DNAJC13 p.Ser1166Arg Uncertain significance Single submitter
- DNAJC13 p.Ser1416Leu Uncertain significance Single submitter
- DNAJC13 p.Ser1470Ala Uncertain significance Single submitter
- DNAJC13 p.Ser2036Gly Uncertain significance Single submitter
- DNAJC13 p.Ser231Ala Uncertain significance Single submitter
- DNAJC13 p.Ser844Thr Uncertain significance Single submitter
- DNAJC13 p.Thr1355Ser Uncertain significance Single submitter
- DNAJC13 p.Thr1375Ala Uncertain significance Single submitter
- DNAJC13 p.Thr1406Ala Uncertain significance Single submitter
- DNAJC13 p.Thr15Ala Uncertain significance Single submitter
- DNAJC13 p.Thr1604Asn Uncertain significance Single submitter
- DNAJC13 p.Thr1940Ala Uncertain significance Single submitter
- DNAJC13 p.Thr1941Ile Uncertain significance Single submitter
- DNAJC13 p.Thr258Ser Uncertain significance Single submitter
- DNAJC13 p.Thr364Ala Uncertain significance Single submitter
- DNAJC13 p.Thr409Arg Uncertain significance Single submitter
- DNAJC13 p.Thr787Ile Uncertain significance Single submitter
- DNAJC13 p.Tyr51Cys Uncertain significance Single submitter
- DNAJC13 p.Tyr851Cys Uncertain significance Single submitter
- DNAJC13 p.Val1430Ile Uncertain significance Single submitter
- DNAJC13 p.Val1459Ile Uncertain significance Single submitter
- DNAJC13 p.Val1517Leu Uncertain significance Single submitter
- DNAJC13 p.Val1688Leu Uncertain significance Single submitter
- DNAJC13 p.Val1969Met Uncertain significance Single submitter
- DNAJC13 p.Val2045Ile Uncertain significance Single submitter
- DNAJC13 p.Val2224Asp Uncertain significance Single submitter
- DNAJC13 p.Val2224Leu Uncertain significance Single submitter
- DNAJC13 p.Val239Leu Uncertain significance Single submitter
- DNAJC13 p.Val419Ile Uncertain significance Single submitter
- DNAJC13 p.Val60Ala Uncertain significance Single submitter
- DNAJC13 p.Val670Ile Uncertain significance Single submitter
-
DNAJC13 p.Ala1839Val
Uncertain significance
No assertion criteria
DNAJC13-related disorder
-
DNAJC13 p.Ala183Val
Uncertain significance
No assertion criteria
DNAJC13-related disorder
-
DNAJC13 p.Cys1083Ser
Uncertain significance
No assertion criteria
DNAJC13-related disorder
-
DNAJC13 p.Leu346Val
Uncertain significance
No assertion criteria
vascular dementia
-
DNAJC13 p.Val1995Ile
Uncertain significance
No assertion criteria
DNAJC13-related disorder
Predictors split 92
The independent predictors disagree with each other — read with care.
- DNAJC13 p.Arg677Trp Uncertain significance Multiple submitters
- DNAJC13 p.Arg833Lys Uncertain significance Multiple submitters
-
DNAJC13 p.Glu1291Gly
Benign/Likely benign
Multiple submitters
Parkinson disease 21
- DNAJC13 p.Pro1515Ser Benign/Likely benign Multiple submitters
- DNAJC13 p.Ser790Tyr Benign/Likely benign Multiple submitters
- DNAJC13 p.Val1995Leu Benign/Likely benign Multiple submitters
- DNAJC13 p.Ala1151Val Uncertain significance Single submitter
- DNAJC13 p.Ala1285Ser Uncertain significance Single submitter
- DNAJC13 p.Ala1421Val Benign Single submitter
- DNAJC13 p.Ala1650Val Uncertain significance Single submitter
- DNAJC13 p.Ala2213Asp Uncertain significance Single submitter
- DNAJC13 p.Ala34Val Uncertain significance Single submitter
- DNAJC13 p.Ala420Pro Uncertain significance Single submitter
- DNAJC13 p.Ala876Gly Uncertain significance Single submitter
- DNAJC13 p.Arg1069Gln Uncertain significance Single submitter
- DNAJC13 p.Arg1118His Uncertain significance Single submitter
- DNAJC13 p.Arg1225Cys Uncertain significance Single submitter
- DNAJC13 p.Arg1462Cys Uncertain significance Single submitter
- DNAJC13 p.Arg1506Trp Uncertain significance Single submitter
- DNAJC13 p.Arg1516Cys Benign Single submitter
- DNAJC13 p.Arg154Gly Uncertain significance Single submitter
- DNAJC13 p.Arg1694Lys Uncertain significance Single submitter
- DNAJC13 p.Arg2182His Uncertain significance Single submitter
- DNAJC13 p.Arg222His Uncertain significance Single submitter
- DNAJC13 p.Arg376Ser Uncertain significance Single submitter
- DNAJC13 p.Arg454His Uncertain significance Single submitter
- DNAJC13 p.Arg73Gly Uncertain significance Single submitter
- DNAJC13 p.Arg860His Uncertain significance Single submitter
- DNAJC13 p.Arg985Ser Uncertain significance Single submitter
- DNAJC13 p.Asn141Ile Uncertain significance Single submitter
- DNAJC13 p.Asn1758Ser Uncertain significance Single submitter
- DNAJC13 p.Asn1931Ser Uncertain significance Single submitter
- DNAJC13 p.Asn7Ser Uncertain significance Single submitter
- DNAJC13 p.Asp1042Gly Uncertain significance Single submitter
- DNAJC13 p.Asp533Glu Uncertain significance Single submitter
- DNAJC13 p.Gln1012His Uncertain significance Single submitter
- DNAJC13 p.Glu424Lys Uncertain significance Single submitter
- DNAJC13 p.Glu453Gln Uncertain significance Single submitter
- DNAJC13 p.Glu837Lys Uncertain significance Single submitter
- DNAJC13 p.Gly1001Ala Uncertain significance Single submitter
- DNAJC13 p.His1726Arg Uncertain significance Single submitter
- DNAJC13 p.His2050Gln Likely benign Single submitter
- DNAJC13 p.Ile156Thr Uncertain significance Single submitter
- DNAJC13 p.Ile1718Thr Uncertain significance Single submitter
- DNAJC13 p.Ile1718Val Uncertain significance Single submitter
- DNAJC13 p.Ile1847Thr Uncertain significance Single submitter
- DNAJC13 p.Ile2070Met Uncertain significance Single submitter
- DNAJC13 p.Ile2073Thr Uncertain significance Single submitter
- DNAJC13 p.Ile2198Val Uncertain significance Single submitter
- DNAJC13 p.Ile54Val Uncertain significance Single submitter
- DNAJC13 p.Ile921Thr Uncertain significance Single submitter
- DNAJC13 p.Leu1046Arg Uncertain significance Single submitter
- DNAJC13 p.Leu262Val Uncertain significance Single submitter
- DNAJC13 p.Lys1666Glu Uncertain significance Single submitter
- DNAJC13 p.Lys653Asn Uncertain significance Single submitter
- DNAJC13 p.Lys709Glu Uncertain significance Single submitter
- DNAJC13 p.Lys928Asn Uncertain significance Single submitter
- DNAJC13 p.Lys974Asn Uncertain significance Single submitter
- DNAJC13 p.Met1729Ile Uncertain significance Single submitter
- DNAJC13 p.Met1882Ile Likely benign Single submitter
- DNAJC13 p.Phe298Cys Uncertain significance Single submitter
- DNAJC13 p.Pro1114Ser Uncertain significance Single submitter
- DNAJC13 p.Pro1224Ser Uncertain significance Single submitter
- DNAJC13 p.Pro127Arg Uncertain significance Single submitter
- DNAJC13 p.Pro1747Leu Uncertain significance Single submitter
- DNAJC13 p.Pro2039Leu Uncertain significance Single submitter
- DNAJC13 p.Pro277Ser Uncertain significance Single submitter
- DNAJC13 p.Pro449Ala Uncertain significance Single submitter
- DNAJC13 p.Pro484Ser Uncertain significance Single submitter
- DNAJC13 p.Pro611Thr Uncertain significance Single submitter
- DNAJC13 p.Ser1561Asn Uncertain significance Single submitter
- DNAJC13 p.Ser1658Tyr Uncertain significance Single submitter
- DNAJC13 p.Ser1713Gly Uncertain significance Single submitter
- DNAJC13 p.Ser1817Phe Uncertain significance Single submitter
- DNAJC13 p.Ser244Pro Uncertain significance Single submitter
- DNAJC13 p.Ser244Thr Uncertain significance Single submitter
- DNAJC13 p.Ser248Leu Uncertain significance Single submitter
- DNAJC13 p.Thr1841Arg Uncertain significance Single submitter
- DNAJC13 p.Thr1895Met Conflicting Single submitter
- DNAJC13 p.Thr1940Pro Uncertain significance Single submitter
- DNAJC13 p.Thr87Ala Uncertain significance Single submitter
- DNAJC13 p.Trp1533Cys Uncertain significance Single submitter
- DNAJC13 p.Tyr1554Phe Uncertain significance Single submitter
- DNAJC13 p.Val132Leu Uncertain significance Single submitter
- DNAJC13 p.Val1457Ala Uncertain significance Single submitter
- DNAJC13 p.Val1970Met Uncertain significance Single submitter
- DNAJC13 p.Val240Ile Uncertain significance Single submitter
- DNAJC13 p.Val263Ala Uncertain significance Single submitter
- DNAJC13 p.Val330Ile Uncertain significance Single submitter
- DNAJC13 p.Val459Ala Uncertain significance Single submitter
-
DNAJC13 p.Asn855Ser
Conflicting
No assertion criteria
late-onset Parkinson disease
-
DNAJC13 p.Thr269Ala
Uncertain significance
No assertion criteria
essential tremor
All DNAJC13 variants
Conflicting classifications of pathogenicity 2
- p.Thr1895Met Single submitter ⚠
- p.Asn855Ser No assertion criteria late-onset Parkinson disease ⚠
Benign 129
- c.1349+102C>T Multiple submitters
- c.1349+103C>A Multiple submitters
- c.1449+179C>T Multiple submitters
- c.1449+45C>G Multiple submitters
- c.1449+98G>C Multiple submitters
- c.1450-9dup Multiple submitters
- c.1557+34T>C Multiple submitters
- c.1770+127T>G Multiple submitters
- c.2208+30G>A Multiple submitters
- c.2291+58T>C Multiple submitters
- c.2292-106C>T Multiple submitters
- c.2292-107C>T Multiple submitters
- c.2292-6G>A Multiple submitters
- c.2445+72T>A Multiple submitters
- c.2549+25G>A Multiple submitters
- c.2550-9A>T Multiple submitters
- c.2710-14A>G Multiple submitters
- c.2710-76T>G Multiple submitters
- c.2772+23C>T Multiple submitters
- c.3182+28T>A Multiple submitters
- c.336+111G>A Multiple submitters
- c.3422+72T>C Multiple submitters
- c.3469-86T>A Multiple submitters
- c.4157-13T>G Multiple submitters
- c.4341+42C>T Multiple submitters
- c.4417-84T>C Multiple submitters
- c.4885-18G>A Multiple submitters
- c.5293+22C>T Multiple submitters
- c.537+14T>A Multiple submitters
- c.538-34A>T Multiple submitters
- c.5485+158G>A Multiple submitters
- c.5485+198G>C Multiple submitters
- c.5486-189C>T Multiple submitters
- c.5560+4A>T Multiple submitters
- c.6060+85C>T Multiple submitters
- c.6061-141C>T Multiple submitters
- c.6061-48G>A Multiple submitters
- c.6625+86G>C Multiple submitters
- c.6626-6T>C Multiple submitters
- c.744+47C>T Multiple submitters
- c.932+16del Multiple submitters
- c.*293A>G Multiple submitters
- p.Ala1217= Multiple submitters
- p.Ala1463Ser Multiple submitters
- p.Ala1993= Multiple submitters
- p.Arg912= Multiple submitters
- p.Asn1952Thr Multiple submitters
- p.Leu1978= Multiple submitters
- p.Leu2170Trp Multiple submitters
- p.Met2225Ile Multiple submitters
- p.Pro1314= Multiple submitters
- p.Thr82= Multiple submitters
- p.Tyr1673Cys Multiple submitters
- c.1180-14_1180-13del Single submitter
- c.144+209del Single submitter
- c.145-160A>G Single submitter
- c.1557+194T>C Single submitter
- c.1558-207_1558-199del Single submitter
- c.1558-243C>T Single submitter
- c.1770+285T>C Single submitter
- c.1771-96del Single submitter
- c.1892+257A>G Single submitter
- c.2064+176T>A Single submitter
- c.2292-106del Single submitter
- c.2292-107_2292-106del Single submitter
- c.2292-108_2292-106del Single submitter
- c.2292-109_2292-106del Single submitter
- c.2292-277del Single submitter
- c.2292-316dup Single submitter
- c.2292-89_2292-88dup Single submitter
- c.2445+153G>T Single submitter
- c.2446-272C>T Single submitter
- c.2710-272C>G Single submitter
- c.2875-351T>G Single submitter
- c.294+167C>T Single submitter
- c.2979+3A>G Single submitter
- c.2980-206C>T Single submitter
- c.3267+167C>T Single submitter
- c.3267+79T>C Single submitter
- c.336+232C>T Single submitter
- c.3422+258A>G Single submitter
- c.3825+288T>C Single submitter
- c.3826-303A>G Single submitter
- c.3826-320dup Single submitter
- c.3942-152del Single submitter
- c.4020+186C>T Single submitter
- c.4156+264G>A Single submitter
- c.4157-174G>A Single submitter
- c.4157-267G>A Single submitter
- c.4342-135dup Single submitter
- c.4416+172T>C Single submitter
- c.4416+231T>C Single submitter
- c.4537-41del Single submitter
- c.4885-163T>C Single submitter
- c.5116-203A>G Single submitter
- c.537+26dup Single submitter
- c.5385+7G>A Single submitter
- c.5386-139T>A Single submitter
- c.5486-219A>G Single submitter
- c.5486-222A>C Single submitter
- c.5486-244G>T Single submitter
- c.5486-280A>G Single submitter
- c.5673+134C>G Single submitter
- c.5673+330G>A Single submitter
- c.5674-159G>C Single submitter
- c.5674-162C>T Single submitter
- c.5886+10A>G Single submitter
- c.6240+119C>T Single submitter
- c.6240+120G>A Single submitter
- c.68+150A>G Single submitter
- c.69-141A>T Single submitter
- c.69-264T>A Single submitter
- c.932+15_932+16del Single submitter
- c.932+15_932+16dup Single submitter
- c.932+280G>A Single submitter
- c.933-320A>G Single submitter
- c.-13-140dup Single submitter
- c.-13-206_-13-194del Single submitter
- c.-13-249C>G Single submitter
- c.-13-266G>C Single submitter
- c.-13-317dup Single submitter
- c.-13-49_-13-48insAG Single submitter
- p.Ala1421Val Single submitter ⚠
- p.Arg1516Cys Single submitter ⚠
- p.Arg903Lys Single submitter
- p.Ile1605Val Single submitter
- p.Leu1435= Single submitter
- c.745-5dup No assertion criteria DNAJC13-related disorder
- c.*10G>A No assertion criteria DNAJC13-related disorder
Benign/Likely benign 9
- c.2550-6del Multiple submitters
- p.Arg1462His Multiple submitters
- p.Arg1516His Multiple submitters
- p.Glu1291Gly Multiple submitters Parkinson disease 21 ⚠
- p.Leu94= Multiple submitters
- p.Pro1515Ser Multiple submitters ⚠
- p.Ser790Tyr Multiple submitters ⚠
- p.Thr1198= Multiple submitters
- p.Val1995Leu Multiple submitters ⚠
Likely benign 40
- p.Leu1985= Multiple submitters
- c.2292-107_2292-104del Single submitter
- c.2292-108C>T Single submitter
- c.2550-10T>A Single submitter
- c.4537-42_4537-41del Single submitter
- c.4999-8_4999-7del Single submitter
- c.5674-7C>T Single submitter
- c.6060+103C>A Single submitter
- c.6061-25A>C Single submitter
- c.6240+4T>C Single submitter
- c.*10G>C Single submitter
- p.Ala1734= Single submitter
- p.Ala2037= Single submitter
- p.Ala2057Ser Single submitter
- p.Ala283= Single submitter
- p.Arg771Lys Single submitter
- p.Arg910= Single submitter
- p.Asn980= Single submitter
- p.Asp839= Single submitter
- p.His2050Gln Single submitter ⚠
- p.Ile578Val Single submitter
- p.Leu1860= Single submitter
- p.Leu2141= Single submitter
- p.Lys779Arg Single submitter
- p.Met1882Ile Single submitter ⚠
- p.Pro2046= Single submitter
- p.Ser421= Single submitter
- p.Thr1423Ala Single submitter
- p.Thr2023= Single submitter
- p.Thr36= Single submitter
- p.Tyr1546His Single submitter
- p.Tyr218= Single submitter
- c.2550-10dup No assertion criteria DNAJC13-related disorder
- c.2773-4C>T No assertion criteria DNAJC13-related disorder
- p.Arg360= No assertion criteria DNAJC13-related disorder
- p.Asp674Ala No assertion criteria DNAJC13-related disorder
- p.Glu1195= No assertion criteria DNAJC13-related disorder
- p.Pro291= No assertion criteria DNAJC13-related disorder
- p.Thr391= No assertion criteria DNAJC13-related disorder
- p.Val1783= No assertion criteria DNAJC13-related disorder
Uncertain significance 233
- p.Arg677Trp Multiple submitters ⚠
- p.Arg833Lys Multiple submitters ⚠
- p.Ile2055Leu Multiple submitters DNAJC13-related disorder ⚠
- p.Leu1834Val Multiple submitters ⚠
- p.Met688Val Multiple submitters ⚠
- p.Thr66Met Multiple submitters DNAJC13-related disorder ⚠
- p.Ala1151Val Single submitter ⚠
- p.Ala1285Ser Single submitter ⚠
- p.Ala1541Gly Single submitter ⚠
- p.Ala1598Thr Single submitter ⚠
- p.Ala1618Val Single submitter ⚠
- p.Ala1650Val Single submitter ⚠
- p.Ala1711Val Single submitter ⚠
- p.Ala2037Thr Single submitter ⚠
- p.Ala2153Val Single submitter ⚠
- p.Ala2213Asp Single submitter ⚠
- p.Ala34Val Single submitter ⚠
- p.Ala420Pro Single submitter ⚠
- p.Ala423Val Single submitter ⚠
- p.Ala646Ser Single submitter ⚠
- p.Ala704Val Single submitter ⚠
- p.Ala708Val Single submitter ⚠
- p.Ala756Gly Single submitter ⚠
- p.Ala876Gly Single submitter ⚠
- p.Ala965Ser Single submitter ⚠
- p.Ala97Thr Single submitter ⚠
- p.Arg1069Gln Single submitter ⚠
- p.Arg1069Trp Single submitter ⚠
- p.Arg1118His Single submitter ⚠
- p.Arg1225Cys Single submitter ⚠
- p.Arg1400Gln Single submitter ⚠
- p.Arg1462Cys Single submitter ⚠
- p.Arg1506Trp Single submitter ⚠
- p.Arg154Gly Single submitter ⚠
- p.Arg1694Lys Single submitter ⚠
- p.Arg1997Ile Single submitter ⚠
- p.Arg2061Trp Single submitter ⚠
- p.Arg2168Gly Single submitter ⚠
- p.Arg2182His Single submitter ⚠
- p.Arg222Cys Single submitter ⚠
- p.Arg222His Single submitter ⚠
- p.Arg265His Single submitter ⚠
- p.Arg376Ser Single submitter ⚠
- p.Arg454His Single submitter ⚠
- p.Arg73Cys Single submitter ⚠
- p.Arg73Gly Single submitter ⚠
- p.Arg746Gln Single submitter ⚠
- p.Arg860His Single submitter ⚠
- p.Arg895= Single submitter late-onset Parkinson disease
- p.Arg985Ser Single submitter ⚠
- p.Asn1113Asp Single submitter ⚠
- p.Asn1254Ser Single submitter ⚠
- p.Asn1307Asp Single submitter ⚠
- p.Asn1307Ser Single submitter ⚠
- p.Asn1381Lys Single submitter ⚠
- p.Asn141Ile Single submitter ⚠
- p.Asn1634Asp Single submitter ⚠
- p.Asn1758Ser Single submitter ⚠
- p.Asn1931Ser Single submitter ⚠
- p.Asn422Asp Single submitter ⚠
- p.Asn510Asp Single submitter ⚠
- p.Asn7Ser Single submitter ⚠
- p.Asp1042Gly Single submitter ⚠
- p.Asp1668Val Single submitter ⚠
- p.Asp1932Glu Single submitter ⚠
- p.Asp2238His Single submitter ⚠
- p.Asp520Val Single submitter ⚠
- p.Asp533Glu Single submitter ⚠
- p.Asp932Glu Single submitter ⚠
- p.Cys1253Tyr Single submitter ⚠
- p.Cys1505Ser Single submitter ⚠
- p.Cys1669Trp Single submitter ⚠
- p.Cys1770Gly Single submitter ⚠
- p.Cys1770Tyr Single submitter ⚠
- p.Cys286Tyr Single submitter ⚠
- p.Cys904Tyr Single submitter ⚠
- p.Gln1012His Single submitter ⚠
- p.Gln1111Glu Single submitter ⚠
- p.Gln1115Arg Single submitter ⚠
- p.Gln1160Pro Single submitter ⚠
- p.Gln1472Lys Single submitter ⚠
- p.Gln292Glu Single submitter ⚠
- p.Gln341Leu Single submitter ⚠
- p.Glu1338Gly Single submitter ⚠
- p.Glu1654Ala Single submitter ⚠
- p.Glu1740Asp Single submitter ⚠
- p.Glu1948Gln Single submitter ⚠
- p.Glu237Gln Single submitter ⚠
- p.Glu353= Single submitter
- p.Glu424Lys Single submitter ⚠
- p.Glu424Val Single submitter ⚠
- p.Glu453Gln Single submitter ⚠
- p.Glu557Asp Single submitter ⚠
- p.Glu789Gln Single submitter ⚠
- p.Glu837Lys Single submitter ⚠
- p.Glu843Asp Single submitter ⚠
- p.Glu886Lys Single submitter ⚠
- p.Gly1001Ala Single submitter ⚠
- p.Gly1133Asp Single submitter ⚠
- p.Gly158Arg Single submitter ⚠
- p.Gly2214Val Single submitter ⚠
- p.His1315Gln Single submitter ⚠
- p.His1537Gln Single submitter ⚠
- p.His1726Arg Single submitter ⚠
- p.His1733Tyr Single submitter ⚠
- p.His1784Arg Single submitter ⚠
- p.His1923Asp Single submitter ⚠
- p.His33Arg Single submitter DNAJC13-related disorder ⚠
- p.His33Gln Single submitter ⚠
- p.His769Arg Single submitter ⚠
- p.Ile1023Val Single submitter ⚠
- p.Ile1047Thr Single submitter ⚠
- p.Ile109Val Single submitter ⚠
- p.Ile1162Val Single submitter ⚠
- p.Ile1369Thr Single submitter ⚠
- p.Ile156Thr Single submitter ⚠
- p.Ile1664Phe Single submitter ⚠
- p.Ile1687Thr Single submitter ⚠
- p.Ile1691Val Single submitter DNAJC13-related disorder ⚠
- p.Ile1718Thr Single submitter ⚠
- p.Ile1718Val Single submitter ⚠
- p.Ile171Val Single submitter ⚠
- p.Ile1771Thr Single submitter ⚠
- p.Ile1799Val Single submitter ⚠
- p.Ile1847Thr Single submitter ⚠
- p.Ile195Arg Single submitter ⚠
- p.Ile202Leu Single submitter ⚠
- p.Ile202Val Single submitter ⚠
- p.Ile2070Met Single submitter ⚠
- p.Ile2073Thr Single submitter ⚠
- p.Ile2198Val Single submitter ⚠
- p.Ile54Val Single submitter ⚠
- p.Ile827Val Single submitter ⚠
- p.Ile888Val Single submitter ⚠
- p.Ile921Thr Single submitter ⚠
- p.Leu1046Arg Single submitter ⚠
- p.Leu1046Val Single submitter ⚠
- p.Leu1226Val Single submitter ⚠
- p.Leu1547Pro Single submitter ⚠
- p.Leu179Ser Single submitter ⚠
- p.Leu1819Phe Single submitter ⚠
- p.Leu262Val Single submitter ⚠
- p.Leu651Trp Single submitter ⚠
- p.Lys1319Arg Single submitter ⚠
- p.Lys1666Glu Single submitter ⚠
- p.Lys1881Arg Single submitter ⚠
- p.Lys1998Arg Single submitter ⚠
- p.Lys305Arg Single submitter ⚠
- p.Lys505Glu Single submitter ⚠
- p.Lys653Asn Single submitter ⚠
- p.Lys709Glu Single submitter ⚠
- p.Lys928Asn Single submitter ⚠
- p.Lys974Asn Single submitter ⚠
- p.Met1729Ile Single submitter ⚠
- p.Met1851Thr Single submitter ⚠
- p.Met1908Val Single submitter ⚠
- p.Met2225Leu Single submitter ⚠
- p.Met348Val Single submitter ⚠
- p.Met724Ile Single submitter ⚠
- p.Phe1196Tyr Single submitter ⚠
- p.Phe1532Cys Single submitter ⚠
- p.Phe298Cys Single submitter ⚠
- p.Phe694Tyr Single submitter ⚠
- p.Phe765Ser Single submitter ⚠
- p.Pro1114Ser Single submitter ⚠
- p.Pro1138Leu Single submitter ⚠
- p.Pro1224Ser Single submitter ⚠
- p.Pro127Arg Single submitter ⚠
- p.Pro1515Leu Single submitter ⚠
- p.Pro1747Leu Single submitter ⚠
- p.Pro2039Leu Single submitter ⚠
- p.Pro2046Leu Single submitter ⚠
- p.Pro277Ser Single submitter ⚠
- p.Pro449Ala Single submitter ⚠
- p.Pro484Ser Single submitter ⚠
- p.Pro611Thr Single submitter ⚠
- p.Ser1166Arg Single submitter ⚠
- p.Ser1416Leu Single submitter ⚠
- p.Ser1470Ala Single submitter ⚠
- p.Ser1561Asn Single submitter ⚠
- p.Ser1658Tyr Single submitter ⚠
- p.Ser1713Gly Single submitter ⚠
- p.Ser1817Phe Single submitter ⚠
- p.Ser2036Gly Single submitter ⚠
- p.Ser231Ala Single submitter ⚠
- p.Ser244Pro Single submitter ⚠
- p.Ser244Thr Single submitter ⚠
- p.Ser248Leu Single submitter ⚠
- p.Ser844Thr Single submitter ⚠
- p.Thr1355Ser Single submitter ⚠
- p.Thr1375Ala Single submitter ⚠
- p.Thr1406Ala Single submitter ⚠
- p.Thr15Ala Single submitter ⚠
- p.Thr1604Asn Single submitter ⚠
- p.Thr1841Arg Single submitter ⚠
- p.Thr1940Ala Single submitter ⚠
- p.Thr1940Pro Single submitter ⚠
- p.Thr1941Ile Single submitter ⚠
- p.Thr258Ser Single submitter ⚠
- p.Thr364Ala Single submitter ⚠
- p.Thr409Arg Single submitter ⚠
- p.Thr787Ile Single submitter ⚠
- p.Thr87Ala Single submitter ⚠
- p.Trp1533Cys Single submitter ⚠
- p.Tyr1554Phe Single submitter ⚠
- p.Tyr51Cys Single submitter ⚠
- p.Tyr851Cys Single submitter ⚠
- p.Val132Leu Single submitter ⚠
- p.Val1430Ile Single submitter ⚠
- p.Val1457Ala Single submitter ⚠
- p.Val1459Ile Single submitter ⚠
- p.Val1517Leu Single submitter ⚠
- p.Val1688Leu Single submitter ⚠
- p.Val1969Met Single submitter ⚠
- p.Val1970Met Single submitter ⚠
- p.Val2045Ile Single submitter ⚠
- p.Val2224Asp Single submitter ⚠
- p.Val2224Leu Single submitter ⚠
- p.Val239Leu Single submitter ⚠
- p.Val240Ile Single submitter ⚠
- p.Val263Ala Single submitter ⚠
- p.Val330Ile Single submitter ⚠
- p.Val419Ile Single submitter ⚠
- p.Val459Ala Single submitter ⚠
- p.Val60Ala Single submitter ⚠
- p.Val670Ile Single submitter ⚠
- c.1713+60T>A No assertion criteria essential tremor
- p.Ala1839Val No assertion criteria DNAJC13-related disorder ⚠
- p.Ala183Val No assertion criteria DNAJC13-related disorder ⚠
- p.Cys1083Ser No assertion criteria DNAJC13-related disorder ⚠
- p.Leu346Val No assertion criteria vascular dementia ⚠
- p.Thr269Ala No assertion criteria essential tremor ⚠
- p.Val1995Ile No assertion criteria DNAJC13-related disorder ⚠