ADAMTS9 — 535 ClinVar variants
All ClinVar germline ADAMTS9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 324 flagged for review →
1 Likely pathogenic · 6 Conflicting · 112 Benign · 2 Benign/Likely benign · 90 Likely benign · 324 Uncertain significance
Full ADAMTS9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 324
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- ADAMTS9 p.Arg1604His Conflicting Single submitter
- ADAMTS9 p.Glu193Asp Conflicting Single submitter
- ADAMTS9 p.His1521Leu Conflicting Single submitter
- ADAMTS9 p.Ile612Val Conflicting Single submitter
-
ADAMTS9 p.Thr65Arg
Conflicting
Single submitter
nephronophthisis
- ADAMTS9 p.Tyr1731His Conflicting Single submitter
Predictors lean, ClinVar uncertain 202
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 202
- ADAMTS9 p.Ala1505Thr Uncertain significance Multiple submitters
- ADAMTS9 p.Arg1175Ser Uncertain significance Multiple submitters
- ADAMTS9 p.Arg1724Gln Uncertain significance Multiple submitters
- ADAMTS9 p.Asn1799Ser Uncertain significance Multiple submitters
- ADAMTS9 p.Asn1806Lys Uncertain significance Multiple submitters
- ADAMTS9 p.Asp1365Asn Uncertain significance Multiple submitters
- ADAMTS9 p.Gly118Arg Uncertain significance Multiple submitters
-
ADAMTS9 p.Ile1370Val
Uncertain significance
Multiple submitters
ADAMTS9-related disorder
- ADAMTS9 p.Pro1168Leu Uncertain significance Multiple submitters
- ADAMTS9 p.Pro1906Leu Uncertain significance Multiple submitters
- ADAMTS9 p.Tyr269Cys Uncertain significance Multiple submitters
- ADAMTS9 p.Ala121Ser Uncertain significance Single submitter
- ADAMTS9 p.Ala1339Ser Uncertain significance Single submitter
- ADAMTS9 p.Ala1505Ser Uncertain significance Single submitter
- ADAMTS9 p.Ala1768Glu Uncertain significance Single submitter
- ADAMTS9 p.Ala1822Thr Uncertain significance Single submitter
- ADAMTS9 p.Ala1847Val Uncertain significance Single submitter
- ADAMTS9 p.Ala1866Ser Uncertain significance Single submitter
- ADAMTS9 p.Ala1867Gly Uncertain significance Single submitter
- ADAMTS9 p.Ala255Pro Uncertain significance Single submitter
- ADAMTS9 p.Ala433Thr Uncertain significance Single submitter
- ADAMTS9 p.Ala697Thr Uncertain significance Single submitter
- ADAMTS9 p.Ala774Val Uncertain significance Single submitter
- ADAMTS9 p.Ala85Asp Uncertain significance Single submitter
- ADAMTS9 p.Ala85Pro Uncertain significance Single submitter
- ADAMTS9 p.Ala85Thr Uncertain significance Single submitter
- ADAMTS9 p.Ala949Val Uncertain significance Single submitter
- ADAMTS9 p.Arg1002His Uncertain significance Single submitter
- ADAMTS9 p.Arg1020Lys Uncertain significance Single submitter
- ADAMTS9 p.Arg1021Lys Uncertain significance Single submitter
- ADAMTS9 p.Arg1028Gln Uncertain significance Single submitter
- ADAMTS9 p.Arg1187Gln Uncertain significance Single submitter
- ADAMTS9 p.Arg1275Gly Uncertain significance Single submitter
- ADAMTS9 p.Arg1275Trp Uncertain significance Single submitter
- ADAMTS9 p.Arg1315His Uncertain significance Single submitter
- ADAMTS9 p.Arg1323Leu Uncertain significance Single submitter
- ADAMTS9 p.Arg1350Gln Uncertain significance Single submitter
- ADAMTS9 p.Arg1411Gln Uncertain significance Single submitter
- ADAMTS9 p.Arg1533Gly Uncertain significance Single submitter
- ADAMTS9 p.Arg1533Ser Uncertain significance Single submitter
-
ADAMTS9 p.Arg1578Cys
Uncertain significance
Single submitter
nephronophthisis
- ADAMTS9 p.Arg177Gln Uncertain significance Single submitter
- ADAMTS9 p.Arg1809Gln Uncertain significance Single submitter
- ADAMTS9 p.Arg1910Gln Uncertain significance Single submitter
- ADAMTS9 p.Arg280Lys Uncertain significance Single submitter
- ADAMTS9 p.Arg293Trp Uncertain significance Single submitter
- ADAMTS9 p.Arg554Gln Uncertain significance Single submitter
- ADAMTS9 p.Arg630His Uncertain significance Single submitter
- ADAMTS9 p.Arg685Trp Uncertain significance Single submitter
- ADAMTS9 p.Arg725Gln Uncertain significance Single submitter
- ADAMTS9 p.Arg865Cys Uncertain significance Single submitter
- ADAMTS9 p.Asn1364His Uncertain significance Single submitter
- ADAMTS9 p.Asn1707Ser Uncertain significance Single submitter
- ADAMTS9 p.Asn201Asp Uncertain significance Single submitter
- ADAMTS9 p.Asn201Tyr Uncertain significance Single submitter
- ADAMTS9 p.Asn271Ser Uncertain significance Single submitter
- ADAMTS9 p.Asn349Asp Uncertain significance Single submitter
- ADAMTS9 p.Asn547Lys Uncertain significance Single submitter
- ADAMTS9 p.Asn547Ser Uncertain significance Single submitter
- ADAMTS9 p.Asn670Asp Uncertain significance Single submitter
- ADAMTS9 p.Asn670Ser Uncertain significance Single submitter
- ADAMTS9 p.Asp1147Ala Uncertain significance Single submitter
- ADAMTS9 p.Asp1218His Uncertain significance Single submitter
- ADAMTS9 p.Asp1426His Uncertain significance Single submitter
- ADAMTS9 p.Asp16Asn Uncertain significance Single submitter
- ADAMTS9 p.Asp16Glu Uncertain significance Single submitter
- ADAMTS9 p.Asp1718Asn Uncertain significance Single submitter
- ADAMTS9 p.Asp1811Asn Uncertain significance Single submitter
- ADAMTS9 p.Asp1862Tyr Uncertain significance Single submitter
- ADAMTS9 p.Asp224Glu Uncertain significance Single submitter
- ADAMTS9 p.Asp398Asn Uncertain significance Single submitter
- ADAMTS9 p.Asp413Glu Uncertain significance Single submitter
- ADAMTS9 p.Asp562Tyr Uncertain significance Single submitter
- ADAMTS9 p.Asp81Glu Uncertain significance Single submitter
- ADAMTS9 p.Asp863Asn Uncertain significance Single submitter
- ADAMTS9 p.Asp863Gly Uncertain significance Single submitter
- ADAMTS9 p.Cys1222Tyr Uncertain significance Single submitter
- ADAMTS9 p.Cys1595Ser Uncertain significance Single submitter
- ADAMTS9 p.Cys1639Phe Uncertain significance Single submitter
- ADAMTS9 p.Cys1733Tyr Uncertain significance Single submitter
- ADAMTS9 p.Cys1863Arg Uncertain significance Single submitter
- ADAMTS9 p.Cys478Tyr Uncertain significance Single submitter
- ADAMTS9 p.Cys553Trp Uncertain significance Single submitter
- ADAMTS9 p.Gln1158Arg Uncertain significance Single submitter
- ADAMTS9 p.Gln136Leu Uncertain significance Single submitter
- ADAMTS9 p.Gln1610Arg Uncertain significance Single submitter
- ADAMTS9 p.Gln1845Glu Uncertain significance Single submitter
- ADAMTS9 p.Gln1894Arg Uncertain significance Single submitter
- ADAMTS9 p.Gln189Glu Uncertain significance Single submitter
- ADAMTS9 p.Gln194Glu Uncertain significance Single submitter
- ADAMTS9 p.Gln391His Uncertain significance Single submitter
- ADAMTS9 p.Gln645Glu Uncertain significance Single submitter
- ADAMTS9 p.Gln645Lys Uncertain significance Single submitter
- ADAMTS9 p.Gln713Pro Uncertain significance Single submitter
- ADAMTS9 p.Gln910Arg Uncertain significance Single submitter
- ADAMTS9 p.Glu1083Asp Uncertain significance Single submitter
- ADAMTS9 p.Glu1107Ala Uncertain significance Single submitter
- ADAMTS9 p.Glu1161Asp Uncertain significance Single submitter
- ADAMTS9 p.Glu1423Gln Uncertain significance Single submitter
- ADAMTS9 p.Glu146Gly Uncertain significance Single submitter
- ADAMTS9 p.Glu1573Lys Uncertain significance Single submitter
- ADAMTS9 p.Glu1589Gln Uncertain significance Single submitter
- ADAMTS9 p.Glu1741Asp Uncertain significance Single submitter
- ADAMTS9 p.Glu1753Asp Uncertain significance Single submitter
- ADAMTS9 p.Glu1787Asp Uncertain significance Single submitter
- ADAMTS9 p.Glu1851Lys Uncertain significance Single submitter
- ADAMTS9 p.Glu435Asp Uncertain significance Single submitter
- ADAMTS9 p.Glu43Asp Uncertain significance Single submitter
- ADAMTS9 p.Glu43Gln Uncertain significance Single submitter
- ADAMTS9 p.Glu493Lys Uncertain significance Single submitter
- ADAMTS9 p.Glu498Lys Uncertain significance Single submitter
- ADAMTS9 p.Glu565Asp Uncertain significance Single submitter
- ADAMTS9 p.Glu61Val Uncertain significance Single submitter
- ADAMTS9 p.Glu995Asp Uncertain significance Single submitter
- ADAMTS9 p.Gly1000Asp Uncertain significance Single submitter
- ADAMTS9 p.Gly1199Glu Uncertain significance Single submitter
- ADAMTS9 p.Gly1328Ser Uncertain significance Single submitter
- ADAMTS9 p.Gly133Arg Uncertain significance Single submitter
- ADAMTS9 p.Gly1347Arg Uncertain significance Single submitter
- ADAMTS9 p.Gly1527Arg Uncertain significance Single submitter
- ADAMTS9 p.Gly1645Arg Uncertain significance Single submitter
- ADAMTS9 p.Gly1684Ser Uncertain significance Single submitter
- ADAMTS9 p.Gly21Glu Uncertain significance Single submitter
- ADAMTS9 p.Gly21Trp Uncertain significance Single submitter
- ADAMTS9 p.Gly490Asp Uncertain significance Single submitter
- ADAMTS9 p.Gly999Ser Uncertain significance Single submitter
- ADAMTS9 p.His1490Tyr Uncertain significance Single submitter
- ADAMTS9 p.His1713Asn Uncertain significance Single submitter
- ADAMTS9 p.His179Asn Uncertain significance Single submitter
- ADAMTS9 p.His232Tyr Uncertain significance Single submitter
- ADAMTS9 p.His282Tyr Uncertain significance Single submitter
- ADAMTS9 p.His372Tyr Uncertain significance Single submitter
- ADAMTS9 p.His397Gln Uncertain significance Single submitter
- ADAMTS9 p.His550Arg Uncertain significance Single submitter
- ADAMTS9 p.His926Gln Uncertain significance Single submitter
- ADAMTS9 p.His99Gln Uncertain significance Single submitter
- ADAMTS9 p.Ile1273Val Uncertain significance Single submitter
- ADAMTS9 p.Ile248Thr Uncertain significance Single submitter
- ADAMTS9 p.Ile411Met Uncertain significance Single submitter
- ADAMTS9 p.Ile54Thr Uncertain significance Single submitter
- ADAMTS9 p.Leu1225Val Uncertain significance Single submitter
- ADAMTS9 p.Leu1930Pro Uncertain significance Single submitter
- ADAMTS9 p.Leu387Ile Uncertain significance Single submitter
- ADAMTS9 p.Lys1073Thr Uncertain significance Single submitter
- ADAMTS9 p.Lys1633Arg Uncertain significance Single submitter
- ADAMTS9 p.Lys1720Arg Uncertain significance Single submitter
- ADAMTS9 p.Lys1746Asn Uncertain significance Single submitter
- ADAMTS9 p.Lys234Asn Uncertain significance Single submitter
- ADAMTS9 p.Lys365Arg Uncertain significance Single submitter
- ADAMTS9 p.Lys477Thr Uncertain significance Single submitter
Predictors split 116
The independent predictors disagree with each other — read with care.
-
ADAMTS9 p.Ala737Thr
Uncertain significance
Multiple submitters
ADAMTS9-related disorder
- ADAMTS9 p.Arg1604Cys Uncertain significance Multiple submitters
- ADAMTS9 p.Arg480Gln Uncertain significance Multiple submitters
- ADAMTS9 p.Arg920Trp Uncertain significance Multiple submitters
- ADAMTS9 p.Arg956His Uncertain significance Multiple submitters
- ADAMTS9 p.Asn622Ile Uncertain significance Multiple submitters
- ADAMTS9 p.Gly1117Arg Uncertain significance Multiple submitters
- ADAMTS9 p.Gly598Val Benign Multiple submitters
- ADAMTS9 p.Pro1172Leu Uncertain significance Multiple submitters
- ADAMTS9 p.Ser141Tyr Uncertain significance Multiple submitters
- ADAMTS9 p.Ser595Arg Uncertain significance Multiple submitters
- ADAMTS9 p.Ser945Asn Uncertain significance Multiple submitters
- ADAMTS9 p.Thr998Met Uncertain significance Multiple submitters
- ADAMTS9 p.Val306Phe Uncertain significance Multiple submitters
- ADAMTS9 p.Val586Met Uncertain significance Multiple submitters
- ADAMTS9 p.Ala1170Asp Uncertain significance Single submitter
- ADAMTS9 p.Ala1443Thr Uncertain significance Single submitter
- ADAMTS9 p.Ala463Ser Uncertain significance Single submitter
- ADAMTS9 p.Ala774Pro Uncertain significance Single submitter
- ADAMTS9 p.Ala963Thr Uncertain significance Single submitter
- ADAMTS9 p.Arg1203Trp Uncertain significance Single submitter
-
ADAMTS9 p.Arg1317Trp
Uncertain significance
Single submitter
ADAMTS9-related disorder
- ADAMTS9 p.Arg1350Trp Uncertain significance Single submitter
- ADAMTS9 p.Arg1416Trp Uncertain significance Single submitter
- ADAMTS9 p.Arg1494Gln Uncertain significance Single submitter
- ADAMTS9 p.Arg1600Gln Uncertain significance Single submitter
- ADAMTS9 p.Arg1759Thr Uncertain significance Single submitter
- ADAMTS9 p.Arg1873Ser Uncertain significance Single submitter
- ADAMTS9 p.Arg209Cys Benign Single submitter
- ADAMTS9 p.Arg209His Likely benign Single submitter
- ADAMTS9 p.Arg685Gln Uncertain significance Single submitter
- ADAMTS9 p.Arg771Gln Uncertain significance Single submitter
- ADAMTS9 p.Arg865His Uncertain significance Single submitter
- ADAMTS9 p.Arg898Gln Uncertain significance Single submitter
- ADAMTS9 p.Arg917Ile Uncertain significance Single submitter
- ADAMTS9 p.Arg967Gly Uncertain significance Single submitter
- ADAMTS9 p.Arg989Cys Uncertain significance Single submitter
- ADAMTS9 p.Asn1588Ile Uncertain significance Single submitter
- ADAMTS9 p.Asn447Lys Uncertain significance Single submitter
- ADAMTS9 p.Asn471Asp Uncertain significance Single submitter
- ADAMTS9 p.Asn516Lys Uncertain significance Single submitter
- ADAMTS9 p.Asp1442Asn Uncertain significance Single submitter
- ADAMTS9 p.Asp1584Gly Uncertain significance Single submitter
- ADAMTS9 p.Asp1674Tyr Uncertain significance Single submitter
- ADAMTS9 p.Asp1818Ala Uncertain significance Single submitter
- ADAMTS9 p.Asp863His Uncertain significance Single submitter
- ADAMTS9 p.Gln1356Arg Uncertain significance Single submitter
- ADAMTS9 p.Gln314His Uncertain significance Single submitter
- ADAMTS9 p.Gln509His Uncertain significance Single submitter
- ADAMTS9 p.Gln847Arg Uncertain significance Single submitter
- ADAMTS9 p.Gln852Glu Uncertain significance Single submitter
- ADAMTS9 p.Glu1063Val Uncertain significance Single submitter
- ADAMTS9 p.Glu1212Lys Uncertain significance Single submitter
- ADAMTS9 p.Glu198Val Uncertain significance Single submitter
- ADAMTS9 p.Glu350Ala Uncertain significance Single submitter
- ADAMTS9 p.Glu652Lys Uncertain significance Single submitter
- ADAMTS9 p.Glu907Gly Uncertain significance Single submitter
- ADAMTS9 p.Gly1015Ser Uncertain significance Single submitter
- ADAMTS9 p.Gly106Ser Uncertain significance Single submitter
- ADAMTS9 p.Gly1908Ala Uncertain significance Single submitter
- ADAMTS9 p.Gly623Arg Uncertain significance Single submitter
- ADAMTS9 p.His1437Arg Uncertain significance Single submitter
- ADAMTS9 p.His315Tyr Uncertain significance Single submitter
- ADAMTS9 p.Ile1765Met Uncertain significance Single submitter
- ADAMTS9 p.Leu12Phe Uncertain significance Single submitter
- ADAMTS9 p.Leu1484Val Uncertain significance Single submitter
- ADAMTS9 p.Leu1714Ile Uncertain significance Single submitter
- ADAMTS9 p.Leu1878Val Uncertain significance Single submitter
- ADAMTS9 p.Leu466Met Uncertain significance Single submitter
- ADAMTS9 p.Leu806Phe Uncertain significance Single submitter
- ADAMTS9 p.Leu849Val Uncertain significance Single submitter
- ADAMTS9 p.Lys1569Asn Uncertain significance Single submitter
- ADAMTS9 p.Pro1106Leu Uncertain significance Single submitter
- ADAMTS9 p.Pro1115His Uncertain significance Single submitter
- ADAMTS9 p.Pro1163Ala Uncertain significance Single submitter
- ADAMTS9 p.Pro1499Leu Uncertain significance Single submitter
- ADAMTS9 p.Pro1555Leu Uncertain significance Single submitter
- ADAMTS9 p.Pro1601Leu Uncertain significance Single submitter
- ADAMTS9 p.Pro1665Arg Uncertain significance Single submitter
- ADAMTS9 p.Pro1665Leu Uncertain significance Single submitter
- ADAMTS9 p.Pro1736His Uncertain significance Single submitter
- ADAMTS9 p.Pro414Arg Uncertain significance Single submitter
- ADAMTS9 p.Pro414Thr Uncertain significance Single submitter
- ADAMTS9 p.Pro710His Uncertain significance Single submitter
- ADAMTS9 p.Pro876Leu Uncertain significance Single submitter
- ADAMTS9 p.Pro924Leu Uncertain significance Single submitter
- ADAMTS9 p.Pro930His Uncertain significance Single submitter
- ADAMTS9 p.Ser1099Tyr Uncertain significance Single submitter
- ADAMTS9 p.Ser1110Tyr Uncertain significance Single submitter
- ADAMTS9 p.Ser1235Cys Uncertain significance Single submitter
- ADAMTS9 p.Ser1690Leu Uncertain significance Single submitter
- ADAMTS9 p.Ser1826Asn Benign Single submitter
- ADAMTS9 p.Ser1888Cys Uncertain significance Single submitter
- ADAMTS9 p.Ser855Leu Uncertain significance Single submitter
- ADAMTS9 p.Ser993Pro Uncertain significance Single submitter
- ADAMTS9 p.Thr1122Ile Uncertain significance Single submitter
- ADAMTS9 p.Thr1152Ile Uncertain significance Single submitter
- ADAMTS9 p.Thr1192Asn Uncertain significance Single submitter
- ADAMTS9 p.Thr1224Ile Uncertain significance Single submitter
- ADAMTS9 p.Thr1334Asn Uncertain significance Single submitter
- ADAMTS9 p.Thr273Met Uncertain significance Single submitter
- ADAMTS9 p.Thr610Ile Uncertain significance Single submitter
- ADAMTS9 p.Thr639Met Uncertain significance Single submitter
- ADAMTS9 p.Tyr1282Cys Uncertain significance Single submitter
- ADAMTS9 p.Tyr1754Cys Uncertain significance Single submitter
- ADAMTS9 p.Val1143Ala Uncertain significance Single submitter
- ADAMTS9 p.Val1143Ile Uncertain significance Single submitter
- ADAMTS9 p.Val1354Leu Uncertain significance Single submitter
- ADAMTS9 p.Val1407Ala Uncertain significance Single submitter
- ADAMTS9 p.Val1511Ala Uncertain significance Single submitter
- ADAMTS9 p.Val1855Ile Uncertain significance Single submitter
- ADAMTS9 p.Val1932Met Uncertain significance Single submitter
- ADAMTS9 p.Val1934Leu Uncertain significance Single submitter
- ADAMTS9 p.Val29Met Uncertain significance Single submitter
- ADAMTS9 p.Val770Ile Uncertain significance Single submitter
-
ADAMTS9 p.Lys1761Gln
Uncertain significance
No assertion criteria
ADAMTS9-related disorder
All ADAMTS9 variants
Likely pathogenic 1
- p.Gln1525fs No assertion criteria nephronophthisis
Conflicting classifications of pathogenicity 6
- p.Arg1604His Single submitter ⚠
- p.Glu193Asp Single submitter ⚠
- p.His1521Leu Single submitter ⚠
- p.Ile612Val Single submitter ⚠
- p.Thr65Arg Single submitter nephronophthisis ⚠
- p.Tyr1731His Single submitter ⚠
Benign 112
- c.1054-11T>C Multiple submitters
- c.116-80C>G Multiple submitters
- c.1169+102G>C Multiple submitters
- c.1210+16G>A Multiple submitters
- c.1210+36C>A Multiple submitters
- c.1210+47A>G Multiple submitters
- c.1464-16C>T Multiple submitters
- c.1605+61A>T Multiple submitters
- c.1710+112T>A Multiple submitters
- c.1711-83G>A Multiple submitters
- c.1856+207A>T Multiple submitters
- c.1856+76G>A Multiple submitters
- c.2175+100G>A Multiple submitters
- c.2176-89T>C Multiple submitters
- c.2176-98T>C Multiple submitters
- c.2293+113A>G Multiple submitters
- c.2293+61C>G Multiple submitters
- c.2389+61G>A Multiple submitters
- c.2389+89C>G Multiple submitters
- c.2389+94C>G Multiple submitters
- c.2687-15del Multiple submitters
- c.2814-160T>C Multiple submitters
- c.3024+86A>G Multiple submitters
- c.3024+94C>T Multiple submitters
- c.3189+139T>C Multiple submitters
- c.3189+168G>A Multiple submitters
- c.3190-94A>G Multiple submitters
- c.3354+157A>G Multiple submitters
- c.3474+14G>A Multiple submitters
- c.3579+52T>C Multiple submitters
- c.3580-42A>G Multiple submitters
- c.4017+58A>C Multiple submitters
- c.4018-84T>C Multiple submitters
- c.4179+18G>C Multiple submitters
- c.4180-18del Multiple submitters
- c.4180-25G>T Multiple submitters
- c.4180-59G>A Multiple submitters
- c.4357-43A>G Multiple submitters
- c.4357-48C>T Multiple submitters
- c.4524+81A>G Multiple submitters
- c.4525-50C>G Multiple submitters
- c.4525-75G>A Multiple submitters
- c.4698+76A>G Multiple submitters
- c.4699-80G>A Multiple submitters
- c.517-20C>A Multiple submitters
- c.5197+49G>A Multiple submitters
- c.5197+49G>T Multiple submitters
- c.5198-25A>G Multiple submitters
- c.5198-40G>A Multiple submitters
- c.5198-82C>T Multiple submitters
- c.5293-38T>G Multiple submitters
- c.5388-38T>G Multiple submitters
- c.5388-39C>T Multiple submitters
- c.5521+159A>G Multiple submitters
- c.5521+161C>T Multiple submitters
- c.5521+54C>G Multiple submitters
- c.5614-48A>G Multiple submitters
- c.5718+220C>T Multiple submitters
- c.970-147G>A Multiple submitters
- p.Ala87Ser Multiple submitters
- p.Arg1933Gln Multiple submitters
- p.Asp1674Glu Multiple submitters
- p.Glu264= Multiple submitters
- p.Gly1346= Multiple submitters
- p.Gly1920= Multiple submitters
- p.Gly598Val Multiple submitters ⚠
- p.Ile1273= Multiple submitters
- p.Lys1740Arg Multiple submitters
- p.Ser1640= Multiple submitters
- p.Ser96Thr Multiple submitters
- p.Thr1174= Multiple submitters
- p.Thr1260= Multiple submitters
- p.Val1408Ile Multiple submitters
- c.1210+19T>C Single submitter
- c.1210+41del Single submitter
- c.1463+133dup Single submitter
- c.1463+149del Single submitter
- c.1606-11G>T Single submitter
- c.1711-148C>T Single submitter
- c.2293+14C>T Single submitter
- c.2390-10T>C Single submitter
- c.3025-214G>A Single submitter
- c.3354+12G>A Single submitter
- c.3354+8G>T Single submitter
- c.3475-17del Single submitter
- c.4018-185T>C Single submitter
- c.4179+11A>C Single submitter
- c.4356+153A>G Single submitter
- c.4699-4A>T Single submitter
- c.4870-145A>C Single submitter
- c.5064+180T>C Single submitter
- c.5065-158G>A Single submitter
- c.5065-189C>A Single submitter
- c.5521+99CACATTG[2] Single submitter
- c.5614-210G>A Single submitter
- c.680-151C>T Single submitter
- p.Ala1170Val Single submitter
- p.Arg209Cys Single submitter ⚠
- p.Asn545= Single submitter
- p.Asn997Ser Single submitter
- p.Asp1596= Single submitter
- p.Glu833= Single submitter
- p.Ile76Val Single submitter
- p.Leu13= Single submitter
- p.Leu921= Single submitter
- p.Lys1914= Single submitter
- p.Ser1826Asn Single submitter ⚠
- p.Thr158= Single submitter
- p.Thr1644= Single submitter
- p.Thr273= Single submitter
- p.Val1581= Single submitter
- p.Val1597Met Single submitter
Benign/Likely benign 2
- c.3475-7C>T Multiple submitters
- p.Asp1034= Multiple submitters
Likely benign 90
- c.4356+4C>T Multiple submitters
- p.His282= Multiple submitters
- p.Pro1168= Multiple submitters
- p.Val1912Ile Multiple submitters
- c.1054-9T>C Single submitter
- c.1170-15C>A Single submitter
- c.1170-15C>T Single submitter
- c.1211-19G>T Single submitter
- c.1211-5A>C Single submitter
- c.1464-14G>A Single submitter
- c.1464-14GT[4] Single submitter
- c.1711-11del Single submitter
- c.1711-20A>G Single submitter
- c.1856+20A>G Single submitter
- c.1857-15T>C Single submitter
- c.1857-9C>G Single submitter
- c.2038+14G>A Single submitter
- c.2039-18A>G Single submitter
- c.2389+7T>C Single submitter
- c.2390-16G>C Single submitter
- c.2687-10T>C Single submitter
- c.2813+16C>G Single submitter
- c.3024+13T>C Single submitter
- c.3190-7A>T Single submitter
- c.3355-6_3355-4del Single submitter
- c.4524+11C>T Single submitter
- c.4524+16C>T Single submitter
- c.4524+17_4524+19del Single submitter
- c.517-17T>C Single submitter
- c.5293-11T>C Single submitter
- c.5387+14G>A Single submitter
- c.5718+19G>A Single submitter
- c.969+16C>T Single submitter
- p.Ala117= Single submitter
- p.Ala1860= Single submitter
- p.Ala825= Single submitter
- p.Arg1520= Single submitter
- p.Arg1594His Single submitter
- p.Arg1673= Single submitter
- p.Arg1810= Single submitter
- p.Arg209His Single submitter ⚠
- p.Arg672= Single submitter
- p.Arg702Gln Single submitter
- p.Asn1364= Single submitter
- p.Asn1390Ser Single submitter
- p.Asn516= Single submitter
- p.Asn665= Single submitter
- p.Asn695Ser Single submitter
- p.Asn794= Single submitter
- p.Asp874= Single submitter
- p.Cys1915= Single submitter
- p.Gln923= Single submitter
- p.Glu435= Single submitter
- p.Gly1489= Single submitter
- p.Gly1572= Single submitter
- p.Gly1694= Single submitter
- p.Gly1882= Single submitter
- p.Gly245Arg Single submitter
- p.Gly260Ser Single submitter
- p.Gly589= Single submitter
- p.Gly885= Single submitter
- p.His1488= Single submitter
- p.Leu1327= Single submitter
- p.Pro1429= Single submitter
- p.Pro1854= Single submitter
- p.Pro585= Single submitter
- p.Pro862= Single submitter
- p.Pro886= Single submitter
- p.Ser1638Leu Single submitter
- p.Ser1692= Single submitter
- p.Ser1905= Single submitter
- p.Ser210= Single submitter
- p.Thr1174Ala Single submitter
- p.Thr1184= Single submitter
- p.Thr1197= Single submitter
- p.Thr131= Single submitter
- p.Thr1886= Single submitter
- p.Thr639= Single submitter
- p.Thr998= Single submitter
- p.Tyr1206= Single submitter
- p.Tyr1361= Single submitter
- p.Tyr1778= Single submitter
- p.Tyr1897= Single submitter
- p.Tyr482= Single submitter
- p.Val1132= Single submitter
- p.Val134= Single submitter
- p.Ala1821= No assertion criteria ADAMTS9-related disorder
- p.Ala835= No assertion criteria ADAMTS9-related disorder
- p.Gly728= No assertion criteria ADAMTS9-related disorder
- p.Lys1579Glu No assertion criteria ADAMTS9-related disorder
Uncertain significance 324
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1505Thr Multiple submitters ⚠
- p.Ala737Thr Multiple submitters ADAMTS9-related disorder ⚠
- p.Arg1175Ser Multiple submitters ⚠
- p.Arg1604Cys Multiple submitters ⚠
- p.Arg1724Gln Multiple submitters ⚠
- p.Arg480Gln Multiple submitters ⚠
- p.Arg920Trp Multiple submitters ⚠
- p.Arg956His Multiple submitters ⚠
- p.Asn1799Ser Multiple submitters ⚠
- p.Asn1806Lys Multiple submitters ⚠
- p.Asn622Ile Multiple submitters ⚠
- p.Asp1365Asn Multiple submitters ⚠
- p.Gly1117Arg Multiple submitters ⚠
- p.Gly118Arg Multiple submitters ⚠
- p.Ile1370Val Multiple submitters ADAMTS9-related disorder ⚠
- p.Pro1168Leu Multiple submitters ⚠
- p.Pro1172Leu Multiple submitters ⚠
- p.Pro1906Leu Multiple submitters ⚠
- p.Ser141Tyr Multiple submitters ⚠
- p.Ser595Arg Multiple submitters ⚠
- p.Ser945Asn Multiple submitters ⚠
- p.Thr998Met Multiple submitters ⚠
- p.Tyr269Cys Multiple submitters ⚠
- p.Val306Phe Multiple submitters ⚠
- p.Val586Met Multiple submitters ⚠
- c.4018-7T>C Single submitter
- c.4870-2A>G Single submitter ADAMTS9-related disorder
- c.516+2T>C Single submitter
- p.Ala1170Asp Single submitter ⚠
- p.Ala121Ser Single submitter ⚠
- p.Ala1339Ser Single submitter ⚠
- p.Ala1443Thr Single submitter ⚠
- p.Ala1505Ser Single submitter ⚠
- p.Ala1768Glu Single submitter ⚠
- p.Ala1822Thr Single submitter ⚠
- p.Ala1847Val Single submitter ⚠
- p.Ala1866Ser Single submitter ⚠
- p.Ala1867Gly Single submitter ⚠
- p.Ala255Pro Single submitter ⚠
- p.Ala433Thr Single submitter ⚠
- p.Ala463Ser Single submitter ⚠
- p.Ala697Thr Single submitter ⚠
- p.Ala774Pro Single submitter ⚠
- p.Ala774Val Single submitter ⚠
- p.Ala85Asp Single submitter ⚠
- p.Ala85Pro Single submitter ⚠
- p.Ala85Thr Single submitter ⚠
- p.Ala949Val Single submitter ⚠
- p.Ala963Thr Single submitter ⚠
- p.Arg1002His Single submitter ⚠
- p.Arg1020Lys Single submitter ⚠
- p.Arg1021Lys Single submitter ⚠
- p.Arg1028Gln Single submitter ⚠
- p.Arg1028Ter Single submitter
- p.Arg1187Gln Single submitter ⚠
- p.Arg1203Trp Single submitter ⚠
- p.Arg1275Gly Single submitter ⚠
- p.Arg1275Trp Single submitter ⚠
- p.Arg1315His Single submitter ⚠
- p.Arg1317Trp Single submitter ADAMTS9-related disorder ⚠
- p.Arg1323Leu Single submitter ⚠
- p.Arg1350Gln Single submitter ⚠
- p.Arg1350Trp Single submitter ⚠
- p.Arg1411Gln Single submitter ⚠
- p.Arg1416Trp Single submitter ⚠
- p.Arg1494Gln Single submitter ⚠
- p.Arg1533Gly Single submitter ⚠
- p.Arg1533Ser Single submitter ⚠
- p.Arg1578Cys Single submitter nephronophthisis ⚠
- p.Arg1600Gln Single submitter ⚠
- p.Arg1759Thr Single submitter ⚠
- p.Arg177Gln Single submitter ⚠
- p.Arg1809Gln Single submitter ⚠
- p.Arg1810Gln Single submitter
- p.Arg1873Ser Single submitter ⚠
- p.Arg1910Gln Single submitter ⚠
- p.Arg280Lys Single submitter ⚠
- p.Arg293Trp Single submitter ⚠
- p.Arg554Gln Single submitter ⚠
- p.Arg630His Single submitter ⚠
- p.Arg685Gln Single submitter ⚠
- p.Arg685Trp Single submitter ⚠
- p.Arg725Gln Single submitter ⚠
- p.Arg771Gln Single submitter ⚠
- p.Arg865Cys Single submitter ⚠
- p.Arg865His Single submitter ⚠
- p.Arg898Gln Single submitter ⚠
- p.Arg917Ile Single submitter ⚠
- p.Arg967Gly Single submitter ⚠
- p.Arg989Cys Single submitter ⚠
- p.Asn1364His Single submitter ⚠
- p.Asn1588Ile Single submitter ⚠
- p.Asn1707Ser Single submitter ⚠
- p.Asn201Asp Single submitter ⚠
- p.Asn201Tyr Single submitter ⚠
- p.Asn271Ser Single submitter ⚠
- p.Asn349Asp Single submitter ⚠
- p.Asn447Lys Single submitter ⚠
- p.Asn471Asp Single submitter ⚠
- p.Asn516Lys Single submitter ⚠
- p.Asn547Lys Single submitter ⚠
- p.Asn547Ser Single submitter ⚠
- p.Asn670Asp Single submitter ⚠
- p.Asn670Ser Single submitter ⚠
- p.Asp1147Ala Single submitter ⚠
- p.Asp1218His Single submitter ⚠
- p.Asp1426His Single submitter ⚠
- p.Asp1442Asn Single submitter ⚠
- p.Asp1584Gly Single submitter ⚠
- p.Asp1674Tyr Single submitter ⚠
- p.Asp16Asn Single submitter ⚠
- p.Asp16Glu Single submitter ⚠
- p.Asp1718Asn Single submitter ⚠
- p.Asp1811Asn Single submitter ⚠
- p.Asp1818Ala Single submitter ⚠
- p.Asp1862Tyr Single submitter ⚠
- p.Asp224Glu Single submitter ⚠
- p.Asp398Asn Single submitter ⚠
- p.Asp413Glu Single submitter ⚠
- p.Asp562Tyr Single submitter ⚠
- p.Asp81Glu Single submitter ⚠
- p.Asp863Asn Single submitter ⚠
- p.Asp863Gly Single submitter ⚠
- p.Asp863His Single submitter ⚠
- p.Cys1222Tyr Single submitter ⚠
- p.Cys1595Ser Single submitter ⚠
- p.Cys1639Phe Single submitter ⚠
- p.Cys1733Tyr Single submitter ⚠
- p.Cys1863Arg Single submitter ⚠
- p.Cys478Tyr Single submitter ⚠
- p.Cys553Trp Single submitter ⚠
- p.Cys931Ter Single submitter
- p.Gln1158Arg Single submitter ⚠
- p.Gln1356Arg Single submitter ⚠
- p.Gln136Leu Single submitter ⚠
- p.Gln1610Arg Single submitter ⚠
- p.Gln1845Glu Single submitter ⚠
- p.Gln1894Arg Single submitter ⚠
- p.Gln189Glu Single submitter ⚠
- p.Gln194Glu Single submitter ⚠
- p.Gln314His Single submitter ⚠
- p.Gln391His Single submitter ⚠
- p.Gln509His Single submitter ⚠
- p.Gln645Glu Single submitter ⚠
- p.Gln645Lys Single submitter ⚠
- p.Gln713Pro Single submitter ⚠
- p.Gln847Arg Single submitter ⚠
- p.Gln852Glu Single submitter ⚠
- p.Gln910Arg Single submitter ⚠
- p.Glu1063Val Single submitter ⚠
- p.Glu1083Asp Single submitter ⚠
- p.Glu1107Ala Single submitter ⚠
- p.Glu1161Asp Single submitter ⚠
- p.Glu1212Lys Single submitter ⚠
- p.Glu1423Gln Single submitter ⚠
- p.Glu146Gly Single submitter ⚠
- p.Glu1573Lys Single submitter ⚠
- p.Glu1589= Single submitter
- p.Glu1589Gln Single submitter ⚠
- p.Glu1741Asp Single submitter ⚠
- p.Glu1753Asp Single submitter ⚠
- p.Glu1787Asp Single submitter ⚠
- p.Glu1851Lys Single submitter ⚠
- p.Glu198Val Single submitter ⚠
- p.Glu199del Single submitter
- p.Glu350Ala Single submitter ⚠
- p.Glu435Asp Single submitter ⚠
- p.Glu43Asp Single submitter ⚠
- p.Glu43Gln Single submitter ⚠
- p.Glu493Lys Single submitter ⚠
- p.Glu498Lys Single submitter ⚠
- p.Glu565Asp Single submitter ⚠
- p.Glu61Val Single submitter ⚠
- p.Glu652Lys Single submitter ⚠
- p.Glu907Gly Single submitter ⚠
- p.Glu995Asp Single submitter ⚠
- p.Gly1000Asp Single submitter ⚠
- p.Gly1015Ser Single submitter ⚠
- p.Gly106Ser Single submitter ⚠
- p.Gly1199Glu Single submitter ⚠
- p.Gly1328Ser Single submitter ⚠
- p.Gly133Arg Single submitter ⚠
- p.Gly1347Arg Single submitter ⚠
- p.Gly1527Arg Single submitter ⚠
- p.Gly1645Arg Single submitter ⚠
- p.Gly1684Ser Single submitter ⚠
- p.Gly1908Ala Single submitter ⚠
- p.Gly21Glu Single submitter ⚠
- p.Gly21Trp Single submitter ⚠
- p.Gly490Asp Single submitter ⚠
- p.Gly623Arg Single submitter ⚠
- p.Gly999Ser Single submitter ⚠
- p.His1437Arg Single submitter ⚠
- p.His1490Tyr Single submitter ⚠
- p.His1713Asn Single submitter ⚠
- p.His179Asn Single submitter ⚠
- p.His232Tyr Single submitter ⚠
- p.His282Tyr Single submitter ⚠
- p.His315Tyr Single submitter ⚠
- p.His372Tyr Single submitter ⚠
- p.His397Gln Single submitter ⚠
- p.His550Arg Single submitter ⚠
- p.His926Gln Single submitter ⚠
- p.His99Gln Single submitter ⚠
- p.Ile1273Val Single submitter ⚠
- p.Ile1765Met Single submitter ⚠
- p.Ile248Thr Single submitter ⚠
- p.Ile411Met Single submitter ⚠
- p.Ile54Thr Single submitter ⚠
- p.Leu1225Val Single submitter ⚠
- p.Leu12Phe Single submitter ⚠
- p.Leu1484Val Single submitter ⚠
- p.Leu1714Ile Single submitter ⚠
- p.Leu1878Val Single submitter ⚠
- p.Leu1930Pro Single submitter ⚠
- p.Leu387Ile Single submitter ⚠
- p.Leu466Met Single submitter ⚠
- p.Leu806Phe Single submitter ⚠
- p.Leu849Val Single submitter ⚠
- p.Lys1057Ter Single submitter
- p.Lys1073Thr Single submitter ⚠
- p.Lys1569Asn Single submitter ⚠
- p.Lys1633Arg Single submitter ⚠
- p.Lys1720Arg Single submitter ⚠
- p.Lys1746Asn Single submitter ⚠
- p.Lys234Asn Single submitter ⚠
- p.Lys365Arg Single submitter ⚠
- p.Lys477Thr Single submitter ⚠
- p.Lys609Arg Single submitter ⚠
- p.Lys621Arg Single submitter ⚠
- p.Lys964Arg Single submitter ⚠
- p.Met1100Thr Single submitter ⚠
- p.Met1204Thr Single submitter ⚠
- p.Met1264Leu Single submitter ⚠
- p.Met1698Val Single submitter ⚠
- p.Met172Thr Single submitter ⚠
- p.Met474Val Single submitter ⚠
- p.Phe486Cys Single submitter ⚠
- p.Pro1106Leu Single submitter ⚠
- p.Pro1115His Single submitter ⚠
- p.Pro1163Ala Single submitter ⚠
- p.Pro1499Leu Single submitter ⚠
- p.Pro1555Leu Single submitter ⚠
- p.Pro1601Leu Single submitter ⚠
- p.Pro1665Arg Single submitter ⚠
- p.Pro1665Leu Single submitter ⚠
- p.Pro1665Ser Single submitter ⚠
- p.Pro1736His Single submitter ⚠
- p.Pro203Leu Single submitter ⚠
- p.Pro414Arg Single submitter ⚠
- p.Pro414Thr Single submitter ⚠
- p.Pro533Thr Single submitter ⚠
- p.Pro559Thr Single submitter ⚠
- p.Pro620Ala Single submitter ⚠
- p.Pro64Leu Single submitter ⚠
- p.Pro710His Single submitter ⚠
- p.Pro82Ser Single submitter ⚠
- p.Pro876Leu Single submitter ⚠
- p.Pro893Leu Single submitter ⚠
- p.Pro893Thr Single submitter ⚠
- p.Pro924Leu Single submitter ⚠
- p.Pro930His Single submitter ⚠
- p.Ser1099Tyr Single submitter ⚠
- p.Ser1110Tyr Single submitter ⚠
- p.Ser1177Arg Single submitter ⚠
- p.Ser1177Asn Single submitter ⚠
- p.Ser1235Cys Single submitter ⚠
- p.Ser1269Thr Single submitter ⚠
- p.Ser1302Arg Single submitter ⚠
- p.Ser1545Leu Single submitter ⚠
- p.Ser1606Arg Single submitter ⚠
- p.Ser1690Leu Single submitter ⚠
- p.Ser1790Phe Single submitter ⚠
- p.Ser1888Cys Single submitter ⚠
- p.Ser233Gly Single submitter ⚠
- p.Ser357Thr Single submitter ⚠
- p.Ser593Asn Single submitter ⚠
- p.Ser855Leu Single submitter ⚠
- p.Ser993Pro Single submitter ⚠
- p.Thr1038Ala Single submitter ⚠
- p.Thr1044Asn Single submitter ⚠
- p.Thr1122Ile Single submitter ⚠
- p.Thr1152Ile Single submitter ⚠
- p.Thr1192Asn Single submitter ⚠
- p.Thr1224Ala Single submitter ⚠
- p.Thr1224Ile Single submitter ⚠
- p.Thr1334Asn Single submitter ⚠
- p.Thr1726Ile Single submitter ⚠
- p.Thr1923Ile Single submitter ⚠
- p.Thr1928Pro Single submitter ⚠
- p.Thr225Ile Single submitter ⚠
- p.Thr273Met Single submitter ⚠
- p.Thr285Ala Single submitter ⚠
- p.Thr402Ile Single submitter ⚠
- p.Thr564Met Single submitter ⚠
- p.Thr603fs Single submitter
- p.Thr610Ile Single submitter ⚠
- p.Thr639Met Single submitter ⚠
- p.Thr933Ile Single submitter ⚠
- p.Trp1337Cys Single submitter ⚠