DOCK7 — 1817 ClinVar variants

All ClinVar germline DOCK7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 732 flagged for review →

55 Pathogenic · 6 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 15 Conflicting · 104 Benign · 15 Benign/Likely benign · 811 Likely benign · 776 Uncertain significance

Full DOCK7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 732

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

DOCK7 p.Ala954Ser Pathogenic Single submitter
developmental and epileptic encephalopathy, 23

Predictors agree, ClinVar conflicts 6

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

DOCK7 p.Ala1424Pro Conflicting Single submitter
Inborn genetic diseases
DOCK7 p.Asn835Asp Conflicting Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Gly431Ala Conflicting Single submitter
Inborn genetic diseases
DOCK7 p.Ile1565Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Lys381Arg Conflicting Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Val422Ala Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 447

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 447

DOCK7 p.Ala1479Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ala205Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ala54Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala550Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala816Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1036His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1087Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1181Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1266Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Arg1268Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1358Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1380Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Arg1618Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1618His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1634Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1701Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1809Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg2136His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg213Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Arg250Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg679Trp Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Arg760Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg77Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg787Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg885Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg94Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg978Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Asn1071Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Asn1172Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Asn1214Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Asn1264Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Asn1740Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Asn1981Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Asn458Asp Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Asn835His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Asp1043Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Asp1472Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Asp1854Tyr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Asp418Glu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Cys655Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Gln1168Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Gln1300Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Glu307Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Glu987Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Gly1282Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Gly443Val Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Gly834Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Gly869Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Gly871Glu Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.His1263Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.His1526Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.His1984Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.His2012Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ile1170Val Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ile117Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ile1234Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ile1249Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ile1272Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ile1623Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ile281Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ile281Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ile322Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ile330Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ile511Val Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ile730Val Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ile806Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ile80Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ile87Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ile918Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ile919Phe Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Leu1082Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Leu176Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Leu202Phe Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Leu529Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Leu791Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Lys1827Glu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Lys586Glu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Met1042Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Met1694Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Met1787Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Met1790Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Met2138Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Met674Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Phe1011Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Phe1615Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Phe2130Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Phe628Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Pro1227Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Pro1227Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Pro1232Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Pro254Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Pro735Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ser101Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ser1112Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ser1159Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ser1230Tyr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ser168Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ser1826Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ser190Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ser241Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ser537Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ser970Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Thr1274Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Thr1477Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Thr1497Met Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Thr371Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Thr426Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Thr451Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Thr451Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Thr460Met Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Thr933Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Tyr1098Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Tyr1229Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Val1084Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Val1216Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Val1335Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Val1494Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Val1745Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Val1756Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Val1916Met Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Val1995Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Val267Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Val553Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala1004Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala102Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala1145Ser Uncertain significance Single submitter
DOCK7 p.Ala1154Val Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Ala1171Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala1195Thr Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Ala1236Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala1322Val Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Ala1435Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala1516Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala1521Ser Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Ala1521Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala1572Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala1716Thr Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Ala283Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala320Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala321Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala368Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala465Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala580Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala742Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala820Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala954Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala990Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1001Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1001Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1036Cys Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 278

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 278

DOCK7 p.Ala283Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala877Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1033Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1634Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Arg179Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1939His Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Arg2100Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg221Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg231Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg231Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg231His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg250Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg314Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg916Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Arg94Gln Benign/Likely benign Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg961His Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Asn1079Tyr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Asn1937Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Asn660Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Asn899Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Asp1226Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Asp1340Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Asp482Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Asp837Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Asp912Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Cys1138Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Glu1700Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Glu2047Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Glu292Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Glu53Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Gly834Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Gly977Glu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.His1022Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.His1209Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.His839Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ile1465Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ile1568Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ile1817Val Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ile1911Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ile824Thr Benign/Likely benign Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Leu1329Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Leu1653Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Leu2038Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Leu564Phe Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Lys1373Glu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Lys2053Glu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Met1173Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Met1392Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Met1724Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Met1942Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Pro1109Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Pro1254Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Pro1898Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Pro2085Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Pro600Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Pro662Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Pro860Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ser1073Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Ser1297Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ser190Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Ser92Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Thr1051Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Thr1310Met Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Thr14Met Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Thr1969Met Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Tyr1626His Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Tyr1768His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Val1000Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Val1657Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DOCK7 p.Val1829Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Val290Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Val290Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Val49Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 p.Val744Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 23
DOCK7 c.1682+14693G>T Uncertain significance Single submitter
DOCK7 p.Ala1154Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala1202Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala1239Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala1294Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala1469Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala1781Ser Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Ala192Thr Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Ala286Thr Uncertain significance Single submitter
DOCK7 p.Ala516Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala6Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala776Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Ala846Pro Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Ala8Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1040Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1040His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1059Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1228Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1462Gly Conflicting Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1556Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1809Gln Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Arg1939Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg1940Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg20Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg2132Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg213Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg221His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg227Lys Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Arg231Ser Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Arg250Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg314His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg314Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg429Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg463Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg679Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg77Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg827Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Arg854Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asn1338Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asn1382Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asn1795Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asn1795Thr Uncertain significance Single submitter
DOCK7 p.Asn1808Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asn200Ile Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Asn223Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asn36Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asn557Lys Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Asn721Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asn944Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asn960Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asp1224Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asp161Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asp1727Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asp1900Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asp1927Asn Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Asp204Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asp339Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asp903Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Asp925Gly Uncertain significance Single submitter
DOCK7 p.Asp925Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Cys1369Gly Uncertain significance Single submitter
DOCK7 p.Cys1369Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Cys523Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Gln781His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Gln815His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Glu1398Lys Uncertain significance Single submitter
DOCK7 p.Glu1779Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Glu1823Val Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Glu1883Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Glu217Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Glu277Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Glu783Gly Uncertain significance Single submitter
Inborn genetic diseases
DOCK7 p.Glu967Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Gly1204Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Gly1416Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23
DOCK7 p.Gly1433Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 23

All DOCK7 variants

Pathogenic 55

p.Arg1380Ter Multiple submitters developmental and epileptic encephalopathy, 23
c.3937-686_4597del Single submitter developmental and epileptic encephalopathy, 23
c.5509-7_5509-6insA Single submitter developmental and epileptic encephalopathy, 23
p.Ala1807fs Single submitter
p.Ala954Ser Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1237Ter Single submitter developmental and epileptic encephalopathy, 23
p.Arg1326Ter Single submitter developmental and epileptic encephalopathy, 23
p.Arg1413Ter Single submitter developmental and epileptic encephalopathy, 23
p.Arg1559Ter Single submitter developmental and epileptic encephalopathy, 23
p.Arg1687Ter Single submitter developmental and epileptic encephalopathy, 23
p.Arg2062Ter Single submitter developmental and epileptic encephalopathy, 23
p.Arg501Ter Single submitter developmental and epileptic encephalopathy, 23
p.Arg576fs Single submitter developmental and epileptic encephalopathy, 23
p.Arg760Ter Single submitter developmental and epileptic encephalopathy, 23
p.Arg787Ter Single submitter developmental and epileptic encephalopathy, 23
p.Arg827Ter Single submitter developmental and epileptic encephalopathy, 23
p.Arg895Ter Single submitter developmental and epileptic encephalopathy, 23
p.Arg957Ter Single submitter developmental and epileptic encephalopathy, 23
p.Asn1795fs Single submitter developmental and epileptic encephalopathy, 23
p.Asn2034fs Single submitter developmental and epileptic encephalopathy, 23
p.Asp1900fs Single submitter developmental and epileptic encephalopathy, 23
p.Asp512fs Single submitter developmental and epileptic encephalopathy, 23
p.Gln1780Ter Single submitter developmental and epileptic encephalopathy, 23
p.Gln973Ter Single submitter developmental and epileptic encephalopathy, 23
p.Glu2089Ter Single submitter developmental and epileptic encephalopathy, 23
p.Gly152fs Single submitter developmental and epileptic encephalopathy, 23
p.Gly872fs Single submitter developmental and epileptic encephalopathy, 23
p.His1560_Cys1561insTer Single submitter developmental and epileptic encephalopathy, 23
p.Ile1045fs Single submitter developmental and epileptic encephalopathy, 23
p.Leu64fs Single submitter developmental and epileptic encephalopathy, 23
p.Leu99fs Single submitter developmental and epileptic encephalopathy, 23
p.Met1381fs Single submitter developmental and epileptic encephalopathy, 23
p.Met1448fs Single submitter developmental and epileptic encephalopathy, 23
p.Met1595fs Single submitter developmental and epileptic encephalopathy, 23
p.Met1790fs Single submitter developmental and epileptic encephalopathy, 23
p.Phe1206fs Single submitter developmental and epileptic encephalopathy, 23
p.Phe261fs Single submitter developmental and epileptic encephalopathy, 23
p.Pro1137fs Single submitter developmental and epileptic encephalopathy, 23
p.Pro1684fs Single submitter
p.Pro187fs Single submitter developmental and epileptic encephalopathy, 23
p.Pro1946fs Single submitter developmental and epileptic encephalopathy, 23
p.Pro703fs Single submitter developmental and epileptic encephalopathy, 23
p.Ser1054fs Single submitter developmental and epileptic encephalopathy, 23
p.Ser1083fs Single submitter developmental and epileptic encephalopathy, 23
p.Ser1874fs Single submitter developmental and epileptic encephalopathy, 23
p.Ser332fs Single submitter developmental and epileptic encephalopathy, 23
p.Ser432fs Single submitter developmental and epileptic encephalopathy, 23
p.Thr186fs Single submitter developmental and epileptic encephalopathy, 23
p.Tyr1768_Phe1769insTer Single submitter developmental and epileptic encephalopathy, 23
p.Tyr362fs Single submitter developmental and epileptic encephalopathy, 23
p.Tyr554fs Single submitter developmental and epileptic encephalopathy, 23
p.Val1377fs Single submitter developmental and epileptic encephalopathy, 23
c.2112+2T>C No assertion criteria developmental and epileptic encephalopathy, 23
p.Asp837fs No assertion criteria developmental and epileptic encephalopathy, 23
p.Ser328Ter No assertion criteria developmental and epileptic encephalopathy, 23

Pathogenic/Likely pathogenic 6

c.4924-1G>A Multiple submitters developmental and epileptic encephalopathy, 23
p.Arg1415Ter Multiple submitters developmental and epileptic encephalopathy, 23
p.Arg429Ter Multiple submitters developmental and epileptic encephalopathy, 23
p.Arg445Ter Multiple submitters developmental and epileptic encephalopathy, 23
p.Glu148fs Multiple submitters developmental and epileptic encephalopathy, 23
p.Thr1547fs Multiple submitters developmental and epileptic encephalopathy, 23

Likely pathogenic 35

c.1519+1G>A Single submitter developmental and epileptic encephalopathy, 23
c.1801-1593_1801-1590del Single submitter
c.1872-6A>T Single submitter
c.1872-6del Single submitter
c.2112+1G>T Single submitter developmental and epileptic encephalopathy, 23
c.2200-2A>G Single submitter developmental and epileptic encephalopathy, 23
c.2431+1G>A Single submitter developmental and epileptic encephalopathy, 23
c.2432-2A>C Single submitter developmental and epileptic encephalopathy, 23
c.2596+1G>C Single submitter developmental and epileptic encephalopathy, 23
c.2767-1G>A Single submitter developmental and epileptic encephalopathy, 23
c.2949+2T>C Single submitter developmental and epileptic encephalopathy, 23
c.3187-31_3274del Single submitter developmental and epileptic encephalopathy, 23
c.4120-1G>T Single submitter developmental and epileptic encephalopathy, 23
c.4380-1G>T Single submitter developmental and epileptic encephalopathy, 23
c.5024+2T>A Single submitter developmental and epileptic encephalopathy, 23
c.5493+1G>T Single submitter developmental and epileptic encephalopathy, 23
c.5634+1G>A Single submitter
c.5724+1G>A Single submitter developmental and epileptic encephalopathy, 23
c.5724+1G>T Single submitter developmental and epileptic encephalopathy, 23
c.5725-2A>G Single submitter developmental and epileptic encephalopathy, 23
c.819-1G>A Single submitter developmental and epileptic encephalopathy, 23
p.Ala321fs Single submitter developmental and epileptic encephalopathy, 23
p.Arg1701Ter Single submitter developmental and epileptic encephalopathy, 23
p.Gln1822fs Single submitter developmental and epileptic encephalopathy, 23
p.Glu610_Phe611insTer Single submitter developmental and epileptic encephalopathy, 23
p.Gly2027fs Single submitter DOCK7-related disorder
p.His1223fs Single submitter
p.Lys295fs Single submitter developmental and epileptic encephalopathy, 23
p.Pro336fs Single submitter developmental and epileptic encephalopathy, 23
p.Pro504_Ile505delinsLeu Single submitter fetal akinesia deformation sequence 3
p.Thr1312= Single submitter Inborn genetic diseases
p.Thr909fs Single submitter developmental and epileptic encephalopathy, 23
p.Trp993Arg Single submitter developmental and epileptic encephalopathy, 23
p.Val1657fs Single submitter developmental and epileptic encephalopathy, 23
p.Val1510fs No assertion criteria DOCK7-related disorder

Conflicting classifications of pathogenicity 15

c.3300+8A>G Single submitter developmental and epileptic encephalopathy, 23
c.4380-12_4380-4del Single submitter developmental and epileptic encephalopathy, 23
c.5724+18A>G Single submitter developmental and epileptic encephalopathy, 23
c.6381-3dup Single submitter developmental and epileptic encephalopathy, 23
p.Ala1424Pro Single submitter Inborn genetic diseases ⚠
p.Arg1462Gly Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg2127= Single submitter Inborn genetic diseases
p.Asn835Asp Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Gln1182= Single submitter developmental and epileptic encephalopathy, 23
p.Gly431Ala Single submitter Inborn genetic diseases ⚠
p.Ile1565Thr Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Lys381Arg Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ser1573Gly Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Thr1312Met Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Val422Ala Single submitter Inborn genetic diseases ⚠

Benign 104

c.1116+146A>G Multiple submitters
c.1425+72G>A Multiple submitters
c.1519+78dup Multiple submitters
c.1683-10882G>A Multiple submitters
c.1683-11535A>G Multiple submitters
c.1683-51_1683-50del Multiple submitters
c.1800+1580A>C Multiple submitters
c.1801-894C>T Multiple submitters
c.1872-9dup Multiple submitters developmental and epileptic encephalopathy, 23
c.2010+35G>A Multiple submitters
c.2113-38del Multiple submitters
c.2859+12A>G Multiple submitters developmental and epileptic encephalopathy, 23
c.2859+17dup Multiple submitters developmental and epileptic encephalopathy, 23
c.3045+106G>A Multiple submitters
c.3472-5A>G Multiple submitters developmental and epileptic encephalopathy, 23
c.3611+44T>G Multiple submitters
c.38+32G>C Multiple submitters
c.4283-128A>C Multiple submitters
c.4283-142T>G Multiple submitters
c.4283-4A>G Multiple submitters developmental and epileptic encephalopathy, 23
c.4380-66T>C Multiple submitters
c.4764+117A>G Multiple submitters
c.4923+82A>G Multiple submitters
c.5025-112A>G Multiple submitters
c.5494-100G>A Multiple submitters
c.5634+107G>A Multiple submitters
c.6212+187C>G Multiple submitters
c.6212+19G>A Multiple submitters developmental and epileptic encephalopathy, 23
c.6381-19C>T Multiple submitters developmental and epileptic encephalopathy, 23
c.732+58A>G Multiple submitters
c.732+88A>G Multiple submitters
c.733-64G>T Multiple submitters
c.-18G>A Multiple submitters
p.Arg463= Multiple submitters developmental and epileptic encephalopathy, 23
p.Met181Val Multiple submitters developmental and epileptic encephalopathy, 23
p.Pro2085= Multiple submitters developmental and epileptic encephalopathy, 23
c.1036-12dup Single submitter developmental and epileptic encephalopathy, 23
c.1036-328C>T Single submitter
c.1116+229T>C Single submitter
c.1282+130G>C Single submitter
c.1283-14dup Single submitter developmental and epileptic encephalopathy, 23
c.1426-277T>C Single submitter
c.145-223A>G Single submitter
c.145-7del Single submitter developmental and epileptic encephalopathy, 23
c.1520-17dup Single submitter developmental and epileptic encephalopathy, 23
c.1683-16004C>T Single submitter
c.1801-157G>T Single submitter
c.1801-287C>T Single submitter
c.1801-626T>G Single submitter
c.1801-652T>C Single submitter
c.1801-668G>C Single submitter
c.1871+238A>G Single submitter
c.1872-265A>G Single submitter
c.2010+89_2010+90dup Single submitter
c.2010+89dup Single submitter
c.2112+195T>C Single submitter
c.2199+264G>A Single submitter
c.2200-237dup Single submitter
c.2431+104C>G Single submitter
c.2597-132del Single submitter
c.2597-152_2597-150dup Single submitter
c.2597-280G>A Single submitter
c.2766+233A>G Single submitter
c.2767-161A>G Single submitter
c.2859+20T>C Single submitter developmental and epileptic encephalopathy, 23
c.3046-188G>T Single submitter
c.3046-4dup Single submitter developmental and epileptic encephalopathy, 23
c.321-4del Single submitter developmental and epileptic encephalopathy, 23
c.3300+15G>A Single submitter developmental and epileptic encephalopathy, 23
c.3471+305del Single submitter
c.3611+275A>G Single submitter
c.3612-146G>A Single submitter
c.3781+15_3781+56del Single submitter developmental and epileptic encephalopathy, 23
c.38+12G>C Single submitter developmental and epileptic encephalopathy, 23
c.389+140A>G Single submitter
c.39-281A>G Single submitter
c.390-10del Single submitter developmental and epileptic encephalopathy, 23
c.3936+202A>G Single submitter
c.3936+261dup Single submitter
c.4282+189_4282+190del Single submitter
c.4282+209T>A Single submitter
c.4612-300A>G Single submitter
c.4765-255G>C Single submitter
c.4924-242C>T Single submitter
c.5025-205dup Single submitter
c.519+17T>G Single submitter developmental and epileptic encephalopathy, 23
c.5218-140A>G Single submitter
c.5218-207A>C Single submitter
c.5361+273C>T Single submitter
c.5362-235A>G Single submitter
c.5493+223dup Single submitter
c.5494-274_5494-273insCTTAA Single submitter
c.5494-290C>T Single submitter
c.5494-298C>T Single submitter
c.5962-147del Single submitter
c.5962-7del Single submitter developmental and epileptic encephalopathy, 23
c.6106-338C>T Single submitter
c.6213-6del Single submitter developmental and epileptic encephalopathy, 23
c.6381-295A>G Single submitter
c.819-11dup Single submitter developmental and epileptic encephalopathy, 23
c.819-267A>C Single submitter
c.885+203A>G Single submitter
p.Val995= Single submitter developmental and epileptic encephalopathy, 23
c.1872-10_1872-9del No assertion criteria DOCK7-related disorder

Benign/Likely benign 15

c.1283-14del Multiple submitters developmental and epileptic encephalopathy, 23
c.1872-9del Multiple submitters developmental and epileptic encephalopathy, 23
c.4119+18C>T Multiple submitters developmental and epileptic encephalopathy, 23
c.6381-6dup Multiple submitters developmental and epileptic encephalopathy, 23
p.Arg1556= Multiple submitters developmental and epileptic encephalopathy, 23
p.Arg94Gln Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Asn42Ser Multiple submitters developmental and epileptic encephalopathy, 23
p.Gly1566Ser Multiple submitters developmental and epileptic encephalopathy, 23
p.His1571= Multiple submitters developmental and epileptic encephalopathy, 23
p.Ile824Thr Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Lys487Arg Multiple submitters developmental and epileptic encephalopathy, 23
p.Pro2015= Multiple submitters developmental and epileptic encephalopathy, 23
p.Pro464= Multiple submitters developmental and epileptic encephalopathy, 23
p.Ser160= Multiple submitters developmental and epileptic encephalopathy, 23
p.Ser900= Multiple submitters developmental and epileptic encephalopathy, 23

Likely benign 811

Showing the top 300 by review status; the full set is in the sitemap.

c.1283-14T>A Multiple submitters developmental and epileptic encephalopathy, 23
c.1682+90T>G Multiple submitters
c.1683-10929T>G Multiple submitters
c.1800+1552A>T Multiple submitters
c.2011-98G>A Multiple submitters
c.2112+137G>A Multiple submitters
c.2113-18A>G Multiple submitters developmental and epileptic encephalopathy, 23
c.2767-120T>A Multiple submitters
c.2859+10A>G Multiple submitters developmental and epileptic encephalopathy, 23
c.3045+89C>A Multiple submitters
c.3300+25G>A Multiple submitters
c.38+62C>T Multiple submitters
c.38+66C>G Multiple submitters
c.389+94T>G Multiple submitters
c.39-125T>C Multiple submitters
c.5025-151C>G Multiple submitters
c.5361+178T>C Multiple submitters
c.5361+64A>G Multiple submitters
c.-112C>A Multiple submitters
p.Ala1239= Multiple submitters developmental and epileptic encephalopathy, 23
p.Ala1339= Multiple submitters developmental and epileptic encephalopathy, 23
p.Ala1551= Multiple submitters developmental and epileptic encephalopathy, 23
p.Ala1866= Multiple submitters developmental and epileptic encephalopathy, 23
p.Ala2= Multiple submitters developmental and epileptic encephalopathy, 23
p.Asp86= Multiple submitters developmental and epileptic encephalopathy, 23
p.Cys1735= Multiple submitters developmental and epileptic encephalopathy, 23
p.Gln156= Multiple submitters developmental and epileptic encephalopathy, 23
p.Gln1609= Multiple submitters developmental and epileptic encephalopathy, 23
p.Glu1456= Multiple submitters developmental and epileptic encephalopathy, 23
p.Glu2006= Multiple submitters developmental and epileptic encephalopathy, 23
p.Gly431= Multiple submitters developmental and epileptic encephalopathy, 23
p.His750= Multiple submitters developmental and epileptic encephalopathy, 23
p.Ile1989= Multiple submitters developmental and epileptic encephalopathy, 23
p.Leu1821= Multiple submitters developmental and epileptic encephalopathy, 23
p.Lys130= Multiple submitters Inborn genetic diseases
p.Phe1932= Multiple submitters developmental and epileptic encephalopathy, 23
p.Pro104= Multiple submitters developmental and epileptic encephalopathy, 23
p.Pro515= Multiple submitters developmental and epileptic encephalopathy, 23
p.Pro57= Multiple submitters developmental and epileptic encephalopathy, 23
p.Ser1162= Multiple submitters developmental and epileptic encephalopathy, 23
p.Ser1352= Multiple submitters developmental and epileptic encephalopathy, 23
p.Ser24= Multiple submitters developmental and epileptic encephalopathy, 23
p.Thr1163= Multiple submitters Inborn genetic diseases
p.Thr1656= Multiple submitters developmental and epileptic encephalopathy, 23
p.Thr470= Multiple submitters developmental and epileptic encephalopathy, 23
p.Thr52= Multiple submitters developmental and epileptic encephalopathy, 23
p.Tyr1364= Multiple submitters developmental and epileptic encephalopathy, 23
p.Tyr1881= Multiple submitters developmental and epileptic encephalopathy, 23
p.Tyr1943= Multiple submitters developmental and epileptic encephalopathy, 23
p.Tyr394= Multiple submitters developmental and epileptic encephalopathy, 23
p.Val1736= Multiple submitters developmental and epileptic encephalopathy, 23
p.Val620= Multiple submitters developmental and epileptic encephalopathy, 23
c.1035+11T>C Single submitter developmental and epileptic encephalopathy, 23
c.1035+12G>A Single submitter developmental and epileptic encephalopathy, 23
c.1036-18T>C Single submitter developmental and epileptic encephalopathy, 23
c.1036-20A>C Single submitter developmental and epileptic encephalopathy, 23
c.1036-9C>A Single submitter developmental and epileptic encephalopathy, 23
c.1116+11dup Single submitter developmental and epileptic encephalopathy, 23
c.1116+12T>C Single submitter developmental and epileptic encephalopathy, 23
c.1116+14C>T Single submitter developmental and epileptic encephalopathy, 23
c.1116+20A>G Single submitter developmental and epileptic encephalopathy, 23
c.1117-10T>C Single submitter developmental and epileptic encephalopathy, 23
c.1117-17A>T Single submitter developmental and epileptic encephalopathy, 23
c.1117-19A>G Single submitter developmental and epileptic encephalopathy, 23
c.1282+12T>C Single submitter developmental and epileptic encephalopathy, 23
c.1282+17C>A Single submitter developmental and epileptic encephalopathy, 23
c.1282+18A>G Single submitter developmental and epileptic encephalopathy, 23
c.1282+7G>A Single submitter developmental and epileptic encephalopathy, 23
c.1283-6T>C Single submitter developmental and epileptic encephalopathy, 23
c.1283-9C>A Single submitter
c.1425+20G>A Single submitter developmental and epileptic encephalopathy, 23
c.1426-10T>C Single submitter developmental and epileptic encephalopathy, 23
c.1426-13T>A Single submitter developmental and epileptic encephalopathy, 23
c.1426-14A>G Single submitter developmental and epileptic encephalopathy, 23
c.1426-16C>A Single submitter developmental and epileptic encephalopathy, 23
c.1426-4T>C Single submitter developmental and epileptic encephalopathy, 23
c.144+11del Single submitter developmental and epileptic encephalopathy, 23
c.144+9C>T Single submitter developmental and epileptic encephalopathy, 23
c.145-11T>G Single submitter developmental and epileptic encephalopathy, 23
c.145-18T>C Single submitter developmental and epileptic encephalopathy, 23
c.145-20del Single submitter developmental and epileptic encephalopathy, 23
c.145-5C>T Single submitter developmental and epileptic encephalopathy, 23
c.1519+10A>C Single submitter developmental and epileptic encephalopathy, 23
c.1519+88dup Single submitter
c.1520-16A>G Single submitter developmental and epileptic encephalopathy, 23
c.1682+10T>A Single submitter developmental and epileptic encephalopathy, 23
c.1682+11T>C Single submitter developmental and epileptic encephalopathy, 23
c.1682+14358_1682+14359del Single submitter
c.1682+15T>G Single submitter developmental and epileptic encephalopathy, 23
c.1682+16T>C Single submitter developmental and epileptic encephalopathy, 23
c.1682+7G>A Single submitter developmental and epileptic encephalopathy, 23
c.1683-12T>C Single submitter developmental and epileptic encephalopathy, 23
c.1683-143C>T Single submitter
c.1683-14T>C Single submitter developmental and epileptic encephalopathy, 23
c.1683-15660C>G Single submitter developmental and epileptic encephalopathy, 23
c.1683-18A>G Single submitter developmental and epileptic encephalopathy, 23
c.1683-4A>G Single submitter developmental and epileptic encephalopathy, 23
c.1800+13C>A Single submitter developmental and epileptic encephalopathy, 23
c.1800+14T>C Single submitter developmental and epileptic encephalopathy, 23
c.1800+7A>G Single submitter developmental and epileptic encephalopathy, 23
c.1800+8A>G Single submitter developmental and epileptic encephalopathy, 23
c.1800+8dup Single submitter developmental and epileptic encephalopathy, 23
c.1801-11A>T Single submitter developmental and epileptic encephalopathy, 23
c.1801-1290C>G Single submitter
c.1801-1565T>C Single submitter
c.1801-15T>G Single submitter developmental and epileptic encephalopathy, 23
c.1801-823A>G Single submitter
c.1871+14A>G Single submitter developmental and epileptic encephalopathy, 23
c.1871+16A>G Single submitter developmental and epileptic encephalopathy, 23
c.1872-10T>C Single submitter developmental and epileptic encephalopathy, 23
c.1872-12T>G Single submitter developmental and epileptic encephalopathy, 23
c.1872-17T>C Single submitter developmental and epileptic encephalopathy, 23
c.1872-181C>T Single submitter
c.1872-4G>T Single submitter developmental and epileptic encephalopathy, 23
c.1872-6A>G Single submitter developmental and epileptic encephalopathy, 23
c.1872-7T>A Single submitter developmental and epileptic encephalopathy, 23
c.1872-7T>G Single submitter developmental and epileptic encephalopathy, 23
c.1872-8G>A Single submitter developmental and epileptic encephalopathy, 23
c.1872-8G>T Single submitter developmental and epileptic encephalopathy, 23
c.2010+11T>A Single submitter developmental and epileptic encephalopathy, 23
c.2010+123C>G Single submitter
c.2010+14G>A Single submitter developmental and epileptic encephalopathy, 23
c.2010+14G>C Single submitter developmental and epileptic encephalopathy, 23
c.2010+19A>G Single submitter developmental and epileptic encephalopathy, 23
c.2010+7C>G Single submitter developmental and epileptic encephalopathy, 23
c.2011-13T>G Single submitter developmental and epileptic encephalopathy, 23
c.2011-15C>G Single submitter developmental and epileptic encephalopathy, 23
c.2011-17T>G Single submitter developmental and epileptic encephalopathy, 23
c.2112+13C>T Single submitter developmental and epileptic encephalopathy, 23
c.2112+14A>G Single submitter developmental and epileptic encephalopathy, 23
c.2112+16G>A Single submitter developmental and epileptic encephalopathy, 23
c.2112+17T>A Single submitter developmental and epileptic encephalopathy, 23
c.2112+7G>A Single submitter developmental and epileptic encephalopathy, 23
c.2113-18A>T Single submitter developmental and epileptic encephalopathy, 23
c.2113-22_2113-15del Single submitter developmental and epileptic encephalopathy, 23
c.2113-7C>T Single submitter developmental and epileptic encephalopathy, 23
c.2113-8T>C Single submitter developmental and epileptic encephalopathy, 23
c.2113-9A>G Single submitter developmental and epileptic encephalopathy, 23
c.2199+11A>G Single submitter developmental and epileptic encephalopathy, 23
c.2199+12T>C Single submitter developmental and epileptic encephalopathy, 23
c.2199+17_2199+19del Single submitter developmental and epileptic encephalopathy, 23
c.2200-11C>A Single submitter developmental and epileptic encephalopathy, 23
c.2200-12T>A Single submitter developmental and epileptic encephalopathy, 23
c.2200-18G>T Single submitter developmental and epileptic encephalopathy, 23
c.2431+12T>C Single submitter developmental and epileptic encephalopathy, 23
c.2431+13_2431+17del Single submitter developmental and epileptic encephalopathy, 23
c.2431+15T>G Single submitter developmental and epileptic encephalopathy, 23
c.2431+9C>G Single submitter developmental and epileptic encephalopathy, 23
c.2432-14T>A Single submitter developmental and epileptic encephalopathy, 23
c.2432-14T>C Single submitter developmental and epileptic encephalopathy, 23
c.2432-15C>A Single submitter developmental and epileptic encephalopathy, 23
c.2596+11C>G Single submitter developmental and epileptic encephalopathy, 23
c.2596+13T>G Single submitter developmental and epileptic encephalopathy, 23
c.2596+19T>C Single submitter developmental and epileptic encephalopathy, 23
c.2597-12A>G Single submitter developmental and epileptic encephalopathy, 23
c.2597-12A>T Single submitter developmental and epileptic encephalopathy, 23
c.2597-133_2597-132del Single submitter
c.2597-135_2597-132dup Single submitter
c.2597-152_2597-151dup Single submitter
c.2597-20T>C Single submitter developmental and epileptic encephalopathy, 23
c.2597-5T>C Single submitter developmental and epileptic encephalopathy, 23
c.2766+16G>A Single submitter developmental and epileptic encephalopathy, 23
c.2766+7T>A Single submitter developmental and epileptic encephalopathy, 23
c.2766+8G>A Single submitter developmental and epileptic encephalopathy, 23
c.2767-10A>G Single submitter developmental and epileptic encephalopathy, 23
c.2767-12T>C Single submitter developmental and epileptic encephalopathy, 23
c.2767-13A>G Single submitter developmental and epileptic encephalopathy, 23
c.2767-14_2767-11dup Single submitter developmental and epileptic encephalopathy, 23
c.2767-18T>C Single submitter developmental and epileptic encephalopathy, 23
c.2767-191A>T Single submitter
c.2767-4T>C Single submitter developmental and epileptic encephalopathy, 23
c.2860-15A>G Single submitter developmental and epileptic encephalopathy, 23
c.2860-15A>T Single submitter developmental and epileptic encephalopathy, 23
c.2860-20C>G Single submitter developmental and epileptic encephalopathy, 23
c.2949+10T>C Single submitter developmental and epileptic encephalopathy, 23
c.2949+11A>G Single submitter developmental and epileptic encephalopathy, 23
c.2949+14A>G Single submitter developmental and epileptic encephalopathy, 23
c.2949+20A>G Single submitter developmental and epileptic encephalopathy, 23
c.2949+9A>G Single submitter developmental and epileptic encephalopathy, 23
c.2950-4A>G Single submitter developmental and epileptic encephalopathy, 23
c.2950-5G>A Single submitter developmental and epileptic encephalopathy, 23
c.2950-8C>T Single submitter developmental and epileptic encephalopathy, 23
c.3045+11A>G Single submitter developmental and epileptic encephalopathy, 23
c.3045+12C>G Single submitter developmental and epileptic encephalopathy, 23
c.3045+13T>C Single submitter developmental and epileptic encephalopathy, 23
c.3045+16G>A Single submitter developmental and epileptic encephalopathy, 23
c.3045+16G>T Single submitter developmental and epileptic encephalopathy, 23
c.3046-11C>A Single submitter developmental and epileptic encephalopathy, 23
c.3046-13A>G Single submitter developmental and epileptic encephalopathy, 23
c.3046-15A>G Single submitter developmental and epileptic encephalopathy, 23
c.3046-16T>C Single submitter developmental and epileptic encephalopathy, 23
c.3046-16T>G Single submitter developmental and epileptic encephalopathy, 23
c.3046-20A>C Single submitter developmental and epileptic encephalopathy, 23
c.3046-278del Single submitter
c.3046-291A>G Single submitter
c.3046-4del Single submitter developmental and epileptic encephalopathy, 23
c.3046-6T>G Single submitter developmental and epileptic encephalopathy, 23
c.3046-8T>A Single submitter developmental and epileptic encephalopathy, 23
c.3046-9T>C Single submitter developmental and epileptic encephalopathy, 23
c.3186+9A>G Single submitter developmental and epileptic encephalopathy, 23
c.3187-10T>G Single submitter developmental and epileptic encephalopathy, 23
c.3187-8T>C Single submitter developmental and epileptic encephalopathy, 23
c.320+17_320+18del Single submitter developmental and epileptic encephalopathy, 23
c.320+20T>C Single submitter developmental and epileptic encephalopathy, 23
c.321-19A>G Single submitter developmental and epileptic encephalopathy, 23
c.3300+10A>G Single submitter developmental and epileptic encephalopathy, 23
c.3300+11G>A Single submitter developmental and epileptic encephalopathy, 23
c.3300+16G>A Single submitter developmental and epileptic encephalopathy, 23
c.3300+18A>G Single submitter developmental and epileptic encephalopathy, 23
c.3301-16dup Single submitter developmental and epileptic encephalopathy, 23
c.3301-4C>T Single submitter developmental and epileptic encephalopathy, 23
c.3301-7T>C Single submitter developmental and epileptic encephalopathy, 23
c.3471+14G>A Single submitter developmental and epileptic encephalopathy, 23
c.3471+16G>A Single submitter developmental and epileptic encephalopathy, 23
c.3471+18A>C Single submitter developmental and epileptic encephalopathy, 23
c.3471+19T>C Single submitter developmental and epileptic encephalopathy, 23
c.3471+304_3471+305del Single submitter
c.3472-10T>C Single submitter developmental and epileptic encephalopathy, 23
c.3472-17G>A Single submitter developmental and epileptic encephalopathy, 23
c.3611+12A>G Single submitter developmental and epileptic encephalopathy, 23
c.3611+19A>G Single submitter developmental and epileptic encephalopathy, 23
c.3611+20C>T Single submitter developmental and epileptic encephalopathy, 23
c.3611+9A>G Single submitter developmental and epileptic encephalopathy, 23
c.3612-11T>A Single submitter developmental and epileptic encephalopathy, 23
c.3612-17T>G Single submitter developmental and epileptic encephalopathy, 23
c.3612-18C>A Single submitter developmental and epileptic encephalopathy, 23
c.3612-18C>T Single submitter developmental and epileptic encephalopathy, 23
c.3612-18CTT[2] Single submitter developmental and epileptic encephalopathy, 23
c.3612-20G>A Single submitter developmental and epileptic encephalopathy, 23
c.3612-6A>G Single submitter developmental and epileptic encephalopathy, 23
c.3781+14T>C Single submitter developmental and epileptic encephalopathy, 23
c.3782-12A>G Single submitter developmental and epileptic encephalopathy, 23
c.3782-16G>T Single submitter developmental and epileptic encephalopathy, 23
c.3782-4T>C Single submitter developmental and epileptic encephalopathy, 23
c.38+10C>G Single submitter developmental and epileptic encephalopathy, 23
c.38+10C>T Single submitter developmental and epileptic encephalopathy, 23
c.38+11G>A Single submitter developmental and epileptic encephalopathy, 23
c.38+12G>A Single submitter developmental and epileptic encephalopathy, 23
c.38+13C>T Single submitter developmental and epileptic encephalopathy, 23
c.38+14G>A Single submitter developmental and epileptic encephalopathy, 23
c.38+16G>A Single submitter developmental and epileptic encephalopathy, 23
c.38+20C>G Single submitter developmental and epileptic encephalopathy, 23
c.38+8T>C Single submitter developmental and epileptic encephalopathy, 23
c.38+8T>G Single submitter developmental and epileptic encephalopathy, 23
c.389+10A>G Single submitter developmental and epileptic encephalopathy, 23
c.389+12G>A Single submitter developmental and epileptic encephalopathy, 23
c.389+15T>C Single submitter developmental and epileptic encephalopathy, 23
c.389+16A>G Single submitter developmental and epileptic encephalopathy, 23
c.389+19A>G Single submitter developmental and epileptic encephalopathy, 23
c.389+20C>G Single submitter developmental and epileptic encephalopathy, 23
c.39-14T>C Single submitter developmental and epileptic encephalopathy, 23
c.39-15C>T Single submitter developmental and epileptic encephalopathy, 23
c.39-5T>G Single submitter developmental and epileptic encephalopathy, 23
c.39-7A>G Single submitter developmental and epileptic encephalopathy, 23
c.390-20_390-19insTC Single submitter developmental and epileptic encephalopathy, 23
c.390-20T>A Single submitter developmental and epileptic encephalopathy, 23
c.390-210A>G Single submitter
c.390-9C>G Single submitter developmental and epileptic encephalopathy, 23
c.3936+10A>G Single submitter developmental and epileptic encephalopathy, 23
c.3936+10A>T Single submitter developmental and epileptic encephalopathy, 23
c.3936+15C>T Single submitter developmental and epileptic encephalopathy, 23
c.3936+17T>A Single submitter developmental and epileptic encephalopathy, 23
c.3936+17T>C Single submitter developmental and epileptic encephalopathy, 23
c.3936+20A>G Single submitter developmental and epileptic encephalopathy, 23
c.3936+275_3936+276dup Single submitter
c.3937-113_3937-109del Single submitter
c.3937-15G>C Single submitter developmental and epileptic encephalopathy, 23
c.3937-18A>G Single submitter developmental and epileptic encephalopathy, 23
c.3937-19T>C Single submitter developmental and epileptic encephalopathy, 23
c.3937-8A>G Single submitter developmental and epileptic encephalopathy, 23
c.3937-95_3937-94del Single submitter
c.4119+10C>A Single submitter developmental and epileptic encephalopathy, 23
c.4119+11A>C Single submitter developmental and epileptic encephalopathy, 23
c.4119+12T>C Single submitter developmental and epileptic encephalopathy, 23
c.4119+15T>G Single submitter developmental and epileptic encephalopathy, 23
c.4119+17C>A Single submitter developmental and epileptic encephalopathy, 23
c.4119+19A>G Single submitter developmental and epileptic encephalopathy, 23
c.4120-10T>C Single submitter developmental and epileptic encephalopathy, 23
c.4120-12T>G Single submitter developmental and epileptic encephalopathy, 23
c.4120-16A>G Single submitter developmental and epileptic encephalopathy, 23
c.4120-18C>T Single submitter developmental and epileptic encephalopathy, 23
c.4120-4T>C Single submitter developmental and epileptic encephalopathy, 23
c.4120-7A>G Single submitter developmental and epileptic encephalopathy, 23
c.4282+16A>G Single submitter
c.4282+188_4282+190del Single submitter
c.4282+190del Single submitter
c.4283-117A>G Single submitter
c.4283-16G>A Single submitter developmental and epileptic encephalopathy, 23
c.4379+175G>A Single submitter
c.4379+7C>A Single submitter developmental and epileptic encephalopathy, 23
c.4379+8A>G Single submitter developmental and epileptic encephalopathy, 23
c.4379+9G>A Single submitter developmental and epileptic encephalopathy, 23
c.4380-15A>C Single submitter developmental and epileptic encephalopathy, 23
c.4380-16C>A Single submitter developmental and epileptic encephalopathy, 23
c.4380-205_4380-201del Single submitter
c.4380-216C>T Single submitter
c.4380-217A>T Single submitter
c.4380-5A>G Single submitter developmental and epileptic encephalopathy, 23
c.4380-7G>A Single submitter developmental and epileptic encephalopathy, 23
c.4476+11A>C Single submitter developmental and epileptic encephalopathy, 23

Uncertain significance 776

Showing the top 300 by review status; the full set is in the sitemap.

c.3781+4C>G Multiple submitters Inborn genetic diseases
c.38+6T>C Multiple submitters developmental and epileptic encephalopathy, 23
p.Ala1479Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala205Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala283Ser Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ala54Thr Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ala550Thr Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ala816Thr Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ala877Gly Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg1033Lys Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg1036His Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg1087Ile Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg1181Cys Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg1266Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1268Lys Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg1358Gln Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg1380Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1618Cys Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg1618His Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg1634Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg1634Lys Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg1701Gln Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg179Cys Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg1809Trp Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg1939His Multiple submitters Inborn genetic diseases ⚠
p.Arg2100Cys Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg2136His Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg213Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg221Gly Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg231Cys Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg231Gly Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg231His Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg250Gln Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg250Trp Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg314Cys Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg679Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg760Gln Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg77Gln Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg787Gln Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg885Ile Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg916Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg94Trp Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Arg961His Multiple submitters Inborn genetic diseases ⚠
p.Arg978Cys Multiple submitters Inborn genetic diseases ⚠
p.Asn1071Asp Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Asn1079Tyr Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Asn1172Asp Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Asn1214Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1264Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1740Ser Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Asn1937Ser Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Asn1981Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn458Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn660Ser Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Asn835His Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Asn899Thr Multiple submitters Inborn genetic diseases ⚠
p.Asp1043Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1226Asn Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Asp1340Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1472Gly Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Asp1854Tyr Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Asp418Glu Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Asp482Gly Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Asp837Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp912Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Cys1138Arg Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Cys655Ser Multiple submitters Inborn genetic diseases ⚠
p.Gln1168Arg Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Gln1300Arg Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Glu1700Gln Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Glu2047Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu292Lys Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Glu307Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu53Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu987Lys Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Gly1282Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly443Val Multiple submitters Inborn genetic diseases ⚠
p.Gly834Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly834Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly869Ser Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Gly871Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly977Glu Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.His1022Leu Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.His1209Arg Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.His1263Gln Multiple submitters Inborn genetic diseases ⚠
p.His1526Pro Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.His1984Asn Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.His2012Arg Multiple submitters Inborn genetic diseases ⚠
p.His839Arg Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ile1170Val Multiple submitters Inborn genetic diseases ⚠
p.Ile117Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ile1234Met Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ile1249Thr Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ile1272Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ile1465Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1568Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile1623Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ile1817Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1911Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ile281Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile281Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ile322Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ile330Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ile511Val Multiple submitters Inborn genetic diseases ⚠
p.Ile730Val Multiple submitters Inborn genetic diseases ⚠
p.Ile806Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ile80Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile87Thr Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ile918Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ile919Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu1082Phe Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Leu1329Phe Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Leu1653Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Leu176Pro Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Leu202Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu2038Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Leu529Phe Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Leu564Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu791Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu844Arg Multiple submitters developmental and epileptic encephalopathy, 23
p.Lys1373Glu Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Lys1827Glu Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Lys2053Glu Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Lys586Glu Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Met1042Thr Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Met1173Thr Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Met1284del Multiple submitters developmental and epileptic encephalopathy, 23
p.Met1392Leu Multiple submitters Inborn genetic diseases ⚠
p.Met1694Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Met1724Ile Multiple submitters Inborn genetic diseases ⚠
p.Met1787Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Met1790Leu Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Met1942Ile Multiple submitters Inborn genetic diseases ⚠
p.Met2138Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Met674Val Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Phe1011Leu Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Phe1615Tyr Multiple submitters Inborn genetic diseases ⚠
p.Phe2130Cys Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Phe628Leu Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Pro1109Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1227Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1227Ser Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Pro1232Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro1254Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1898Arg Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Pro2085Leu Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Pro254Ala Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Pro600Leu Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Pro662Leu Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Pro735Ala Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Pro860Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser101Leu Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ser1073Gly Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ser1112Ile Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ser1159Cys Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ser1230Tyr Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ser1297Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser168Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser1826Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser190Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser190Gly Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ser241Pro Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ser537Asn Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Ser92Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser970Gly Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Thr1051Met Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Thr1274Ala Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Thr1310Met Multiple submitters Inborn genetic diseases ⚠
p.Thr1477Ala Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Thr1497Met Multiple submitters Inborn genetic diseases ⚠
p.Thr14Met Multiple submitters Inborn genetic diseases ⚠
p.Thr1969Met Multiple submitters Inborn genetic diseases ⚠
p.Thr371Ala Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Thr426Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr451Ile Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Thr451Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr460Met Multiple submitters Inborn genetic diseases ⚠
p.Thr933Ala Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Tyr1098Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr1229Phe Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Tyr1626His Multiple submitters Inborn genetic diseases ⚠
p.Tyr1768His Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Val1000Ile Multiple submitters Inborn genetic diseases ⚠
p.Val1084Ile Multiple submitters Inborn genetic diseases ⚠
p.Val1216Ile Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Val1335Ile Multiple submitters Inborn genetic diseases ⚠
p.Val1494Ile Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Val1657Ala Multiple submitters Inborn genetic diseases ⚠
p.Val1745Ile Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Val1756Ile Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Val1829Asp Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Val1916Met Multiple submitters Inborn genetic diseases ⚠
p.Val1995Leu Multiple submitters Inborn genetic diseases ⚠
p.Val267Ala Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Val290Ala Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Val290Ile Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Val49Met Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Val553Ile Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
p.Val744Phe Multiple submitters developmental and epileptic encephalopathy, 23 ⚠
c.1425+5T>C Single submitter developmental and epileptic encephalopathy, 23
c.1426-6A>G Single submitter developmental and epileptic encephalopathy, 23
c.1682+14693G>T Single submitter ⚠
c.1683-11T>G Single submitter developmental and epileptic encephalopathy, 23
c.1683-14539G>A Single submitter developmental and epileptic encephalopathy, 23
c.2112+3C>T Single submitter developmental and epileptic encephalopathy, 23
c.2112+5G>C Single submitter developmental and epileptic encephalopathy, 23
c.2199+4A>G Single submitter developmental and epileptic encephalopathy, 23
c.2432-4A>G Single submitter developmental and epileptic encephalopathy, 23
c.2767-3T>C Single submitter developmental and epileptic encephalopathy, 23
c.3186+6_3186+8del Single submitter developmental and epileptic encephalopathy, 23
c.3186+7A>G Single submitter developmental and epileptic encephalopathy, 23
c.320+5G>A Single submitter developmental and epileptic encephalopathy, 23
c.3300+5T>C Single submitter developmental and epileptic encephalopathy, 23
c.3471+12G>A Single submitter
c.3471+3A>G Single submitter developmental and epileptic encephalopathy, 23
c.3472-18T>C Single submitter developmental and epileptic encephalopathy, 23
c.3472-30A>G Single submitter Inborn genetic diseases
c.3781+5C>G Single submitter developmental and epileptic encephalopathy, 23
c.3781+6T>C Single submitter developmental and epileptic encephalopathy, 23
c.3782-3T>C Single submitter developmental and epileptic encephalopathy, 23
c.389+2061A>G Single submitter developmental and epileptic encephalopathy, 23
c.4120-3T>C Single submitter developmental and epileptic encephalopathy, 23
c.4283-5G>T Single submitter
c.4379+6A>G Single submitter developmental and epileptic encephalopathy, 23
c.4380-7G>C Single submitter developmental and epileptic encephalopathy, 23
c.4380-9_4380-3del Single submitter developmental and epileptic encephalopathy, 23
c.4476+2_4476+9dup Single submitter developmental and epileptic encephalopathy, 23
c.4924-3C>T Single submitter developmental and epileptic encephalopathy, 23
c.5361+6T>C Single submitter developmental and epileptic encephalopathy, 23
c.5362-3T>C Single submitter developmental and epileptic encephalopathy, 23
c.5493+4A>C Single submitter Inborn genetic diseases
c.5494-4A>G Single submitter developmental and epileptic encephalopathy, 23
c.5724+6G>A Single submitter developmental and epileptic encephalopathy, 23
c.6105+5G>A Single submitter developmental and epileptic encephalopathy, 23
c.6212+5T>G Single submitter developmental and epileptic encephalopathy, 23
c.732+4del Single submitter
c.818+5G>A Single submitter developmental and epileptic encephalopathy, 23
c.885+6A>G Single submitter developmental and epileptic encephalopathy, 23
c.-1C>T Single submitter
p.Ala1004Pro Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala102Val Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala1145Ser Single submitter ⚠
p.Ala1154Pro Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala1154Val Single submitter Inborn genetic diseases ⚠
p.Ala1171Thr Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala1195Thr Single submitter Inborn genetic diseases ⚠
p.Ala1202Val Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala1236Pro Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala1239Ser Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala1294Thr Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala1322Val Single submitter Inborn genetic diseases ⚠
p.Ala1435Ser Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala1469Thr Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala1516Thr Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala1521Ser Single submitter Inborn genetic diseases ⚠
p.Ala1521Thr Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala1572Thr Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala1716Thr Single submitter Inborn genetic diseases ⚠
p.Ala1781Ser Single submitter Inborn genetic diseases ⚠
p.Ala192Thr Single submitter Inborn genetic diseases ⚠
p.Ala283Val Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala286Thr Single submitter ⚠
p.Ala320Ser Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala321Thr Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala368Thr Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala465Pro Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala516Thr Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala580Ser Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala6Asp Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala742Gly Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala776Val Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala820Thr Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala846Pro Single submitter Inborn genetic diseases ⚠
p.Ala8Val Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala954Gly Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Ala990Pro Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1001Gln Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1001Trp Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1036Cys Single submitter Inborn genetic diseases ⚠
p.Arg1040Cys Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1040His Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1059Gln Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1181His Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1228Gln Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1326Gln Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1380Pro Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1412Gln Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1452Cys Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1452His Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1532Gly Single submitter Inborn genetic diseases ⚠
p.Arg1532Lys Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1556Ser Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1728Gln Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1728Trp Single submitter Inborn genetic diseases ⚠
p.Arg178Ile Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg179His Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1809Gln Single submitter Inborn genetic diseases ⚠
p.Arg1844Cys Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1928Ile Single submitter developmental and epileptic encephalopathy, 23 ⚠
p.Arg1939Cys Single submitter developmental and epileptic encephalopathy, 23 ⚠