PHIP — 1329 ClinVar variants

All ClinVar germline PHIP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 506 flagged for review →

76 Pathogenic · 17 Pathogenic/Likely pathogenic · 91 Likely pathogenic · 44 Conflicting · 97 Benign · 23 Benign/Likely benign · 426 Likely benign · 555 Uncertain significance

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

⚑ Evidence disagreements 506

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 6

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

PHIP p.Ser287Tyr Likely pathogenic Multiple submitters
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Arg1402Ser Likely pathogenic Single submitter
PHIP p.Cys1106Tyr Likely pathogenic Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Ile1009Met Likely pathogenic Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Pro726Ser Likely pathogenic Single submitter
PHIP p.Val138Gly Likely pathogenic Single submitter
Inborn genetic diseases

Predictors agree, ClinVar conflicts 32

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

PHIP p.Ala1597Val Conflicting Single submitter
Inborn genetic diseases
PHIP p.Ala1616Thr Conflicting Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Ala569Val Conflicting Single submitter
Inborn genetic diseases
PHIP p.Arg1310His Conflicting Single submitter
Early onset severe obesity
PHIP p.Arg797His Conflicting Single submitter
Inborn genetic diseases
PHIP p.Asn1693Ser Conflicting Single submitter
Inborn genetic diseases
PHIP p.Asn872Ser Conflicting Single submitter
Inborn genetic diseases
PHIP p.Asn903Lys Conflicting Single submitter
Inborn genetic diseases
PHIP p.Asp1704Glu Conflicting Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Gln33Glu Conflicting Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Glu1755Gln Conflicting Single submitter
Inborn genetic diseases
PHIP p.Glu680Asp Conflicting Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Gly201Val Conflicting Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Gly464Arg Conflicting Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Gly660Val Conflicting Single submitter
Inborn genetic diseases
PHIP p.Leu1271Val Conflicting Single submitter
Inborn genetic diseases
PHIP p.Lys889Asn Conflicting Single submitter
Inborn genetic diseases
PHIP p.Lys989Arg Conflicting Single submitter
PHIP-related disorder
PHIP p.Met1275Val Conflicting Single submitter
Inborn genetic diseases
PHIP p.Met1361Val Conflicting Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Met1379Val Conflicting Single submitter
PHIP-related disorder
PHIP p.Pro410Ala Conflicting Single submitter
Inborn genetic diseases
PHIP p.Ser1762Pro Conflicting Single submitter
Inborn genetic diseases
PHIP p.Thr1506Ala Conflicting Single submitter
PHIP p.Thr167Ala Conflicting Single submitter
intellectual disability, X-linked 102
PHIP p.Thr438Ala Conflicting Single submitter
Inborn genetic diseases
PHIP p.Thr944Ala Conflicting Single submitter
Inborn genetic diseases
PHIP p.Thr949Ala Conflicting Single submitter
PHIP-related disorder
PHIP p.Thr949Ser Conflicting Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Val1169Ala Conflicting Single submitter
PHIP-related disorder
PHIP p.Val1366Ile Conflicting Single submitter
Inborn genetic diseases
PHIP p.Val681Ile Conflicting Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Predictors lean, ClinVar uncertain 332

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 332

PHIP p.Ala211Thr Uncertain significance Multiple submitters
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Arg1065Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Arg1220Trp Uncertain significance Multiple submitters
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Arg1409Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Arg160Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Arg1743Gln Uncertain significance Multiple submitters
PHIP-related disorder
PHIP p.Arg346Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Arg390Cys Uncertain significance Multiple submitters
PHIP p.Arg837Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Asn795His Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Asp1153Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Asp1254Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Gln1771Glu Uncertain significance Multiple submitters
PHIP p.Gln638Glu Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Glu1499Lys Uncertain significance Multiple submitters
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Gly412Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Gly731Val Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Ile1006Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Ile1231Val Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Ile270Thr Uncertain significance Multiple submitters
PHIP p.Ile946Val Uncertain significance Multiple submitters
PHIP p.Leu1256Val Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Leu1429Val Uncertain significance Multiple submitters
PHIP p.Leu1674Val Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Lys65Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Lys893Arg Uncertain significance Multiple submitters
PHIP p.Lys916Asn Uncertain significance Multiple submitters
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Lys980Glu Uncertain significance Multiple submitters
PHIP p.Met239Val Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Phe329Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Pro1344Leu Uncertain significance Multiple submitters
PHIP p.Pro144Leu Uncertain significance Multiple submitters
PHIP p.Pro992Thr Uncertain significance Multiple submitters
PHIP p.Ser674Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Ser828Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Thr1436Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Thr338Met Uncertain significance Multiple submitters
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Thr447Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Tyr1193Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Val1516Ile Uncertain significance Multiple submitters
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Val1737Met Uncertain significance Multiple submitters
PHIP-related disorder
PHIP p.Val762Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Val771Ile Uncertain significance Multiple submitters
PHIP-related disorder
PHIP p.Ala1061Glu Uncertain significance Single submitter
PHIP p.Ala1170Val Uncertain significance Single submitter
PHIP p.Ala1186Gly Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Ala1394Val Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Ala1477Thr Uncertain significance Single submitter
PHIP p.Ala147Val Uncertain significance Single submitter
PHIP p.Ala1554Gly Uncertain significance Single submitter
PHIP p.Ala1554Val Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Ala1616Ser Uncertain significance Single submitter
PHIP p.Ala1814Pro Uncertain significance Single submitter
PHIP p.Ala219Gly Uncertain significance Single submitter
PHIP p.Ala232Thr Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Ala407Gly Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Ala407Ser Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Ala662Pro Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Ala71Pro Uncertain significance Single submitter
PHIP p.Ala733Asp Uncertain significance Single submitter
PHIP p.Ala733Val Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Ala742Ser Uncertain significance Single submitter
PHIP p.Ala826Thr Uncertain significance Single submitter
PHIP p.Ala877Gly Uncertain significance Single submitter
PHIP p.Ala973Val Uncertain significance Single submitter
PHIP p.Arg1071Cys Uncertain significance Single submitter
PHIP p.Arg1386Gly Uncertain significance Single submitter
PHIP p.Arg1430His Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Arg1446Ile Uncertain significance Single submitter
PHIP p.Arg1483Gln Uncertain significance Single submitter
PHIP p.Arg1505Gln Uncertain significance Single submitter
PHIP p.Arg1571Met Uncertain significance Single submitter
PHIP p.Arg1571Ser Uncertain significance Single submitter
PHIP-related disorder
PHIP p.Arg163Gln Uncertain significance Single submitter
PHIP p.Arg1711Gly Uncertain significance Single submitter
PHIP p.Arg1711His Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Arg255Gln Uncertain significance Single submitter
PHIP p.Arg409His Uncertain significance Single submitter
PHIP p.Arg47Gly Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Arg498Thr Uncertain significance Single submitter
PHIP p.Arg563Gln Uncertain significance Single submitter
PHIP p.Arg567Pro Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Arg609His Uncertain significance Single submitter
PHIP p.Arg613Lys Uncertain significance Single submitter
PHIP p.Arg613Thr Uncertain significance Single submitter
PHIP p.Arg658His Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Arg669His Uncertain significance Single submitter
PHIP p.Arg691Cys Uncertain significance Single submitter
PHIP p.Arg735Gly Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Arg797Cys Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Arg807Gly Uncertain significance Single submitter
PHIP p.Asn1104Ser Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Asn112Ser Uncertain significance Single submitter
PHIP p.Asn1159Ser Uncertain significance Single submitter
PHIP p.Asn1311Ser Uncertain significance Single submitter
PHIP p.Asn1374Tyr Uncertain significance Single submitter
PHIP-related disorder
PHIP p.Asn1572His Uncertain significance Single submitter
PHIP p.Asn1572Lys Uncertain significance Single submitter
PHIP p.Asn1650Ser Uncertain significance Single submitter
PHIP p.Asn1678Lys Uncertain significance Single submitter
PHIP p.Asn1699Asp Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Asn1710Ser Uncertain significance Single submitter
PHIP p.Asn774Ser Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Asn792Ser Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Asn981Ser Uncertain significance Single submitter
PHIP p.Asp1044Val Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Asp1111Gly Uncertain significance Single submitter
PHIP p.Asp1153Val Uncertain significance Single submitter
PHIP p.Asp1205Val Uncertain significance Single submitter
PHIP p.Asp1262Tyr Uncertain significance Single submitter
PHIP p.Asp1684Val Uncertain significance Single submitter
PHIP p.Asp1747Glu Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Asp1748Asn Uncertain significance Single submitter
PHIP p.Asp192His Uncertain significance Single submitter
PHIP p.Asp203Gly Uncertain significance Single submitter
PHIP p.Asp204Glu Uncertain significance Single submitter
PHIP p.Asp213Glu Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Asp246Glu Uncertain significance Single submitter
PHIP p.Asp292Gly Uncertain significance Single submitter
PHIP p.Asp386Val Uncertain significance Single submitter
PHIP p.Asp478Asn Uncertain significance Single submitter
PHIP p.Asp488Tyr Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Asp495Val Uncertain significance Single submitter
PHIP p.Asp820Val Uncertain significance Single submitter
intellectual disability
PHIP p.Asp847Gly Uncertain significance Single submitter
PHIP p.Asp962Ala Uncertain significance Single submitter
PHIP p.Cys1102Arg Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Cys1692Phe Uncertain significance Single submitter
PHIP p.Cys188Phe Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Gln1174His Uncertain significance Single submitter
PHIP p.Gln1211Arg Uncertain significance Single submitter
PHIP p.Gln1263Glu Uncertain significance Single submitter
PHIP p.Gln1319His Uncertain significance Single submitter
PHIP p.Gln1493Pro Uncertain significance Single submitter
PHIP p.Gln1609Pro Uncertain significance Single submitter
PHIP p.Gln1787Leu Uncertain significance Single submitter
PHIP p.Gln635Arg Uncertain significance Single submitter
PHIP p.Gln890Glu Uncertain significance Single submitter
PHIP p.Gln98Arg Uncertain significance Single submitter
PHIP p.Glu1094Lys Uncertain significance Single submitter
PHIP p.Glu1214Gln Uncertain significance Single submitter
PHIP p.Glu1499Gln Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Glu1685Gly Uncertain significance Single submitter
PHIP p.Glu1752Gly Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Glu1752Val Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Glu41Ala Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Glu41Gln Uncertain significance Single submitter
PHIP p.Glu43Asp Uncertain significance Single submitter
PHIP p.Glu661Asp Uncertain significance Single submitter
PHIP p.Glu810Lys Uncertain significance Single submitter

Predictors split 136

The independent predictors disagree with each other — read with care.

PHIP p.Arg1310Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Arg1441Ser Benign/Likely benign Multiple submitters
Inborn genetic diseases
PHIP p.Arg691Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Arg799Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Arg999Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Asn1770Lys Uncertain significance Multiple submitters
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Asn507Ser Likely pathogenic Multiple submitters
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Cys245Trp Uncertain significance Multiple submitters
PHIP p.Cys28Arg Uncertain significance Multiple submitters
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Thr1030Ile Uncertain significance Multiple submitters
PHIP-related disorder
PHIP p.Tyr1202Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PHIP p.Ala126Gly Uncertain significance Single submitter
PHIP p.Ala211Glu Uncertain significance Single submitter
PHIP p.Ala337Val Uncertain significance Single submitter
PHIP p.Ala516Thr Conflicting Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Ala530Val Uncertain significance Single submitter
PHIP p.Ala973Asp Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Arg110His Pathogenic Single submitter
PHIP p.Arg110Leu Uncertain significance Single submitter
PHIP p.Arg132Gly Uncertain significance Single submitter
PHIP p.Arg1386Lys Uncertain significance Single submitter
PHIP p.Arg1430Gly Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Arg1507Gly Uncertain significance Single submitter
PHIP p.Arg1587Pro Uncertain significance Single submitter
PHIP p.Arg1661Gly Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Arg193Gln Uncertain significance Single submitter
PHIP p.Arg37Cys Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Arg385Cys Likely benign Single submitter
PHIP p.Arg601Ile Uncertain significance Single submitter
PHIP p.Arg669Cys Conflicting Single submitter
Inborn genetic diseases
PHIP p.Arg691His Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Arg699Gln Uncertain significance Single submitter
PHIP p.Arg714Trp Uncertain significance Single submitter
PHIP p.Arg721Gln Uncertain significance Single submitter
PHIP p.Arg721Pro Uncertain significance Single submitter
PHIP p.Arg797Pro Uncertain significance Single submitter
PHIP p.Arg799Ser Uncertain significance Single submitter
PHIP p.Asn1104Asp Uncertain significance Single submitter
PHIP p.Asn1109Ser Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Asn308Lys Uncertain significance Single submitter
PHIP p.Asp1027Tyr Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Asp1179His Uncertain significance Single submitter
PHIP p.Asp1346Glu Uncertain significance Single submitter
PHIP p.Asp1358His Uncertain significance Single submitter
PHIP p.Asp301His Uncertain significance Single submitter
PHIP p.Asp50Glu Uncertain significance Single submitter
PHIP p.Asp594Glu Conflicting Single submitter
Early onset severe obesity
PHIP p.Asp854Glu Uncertain significance Single submitter
PHIP p.Cys1197Arg Uncertain significance Single submitter
PHIP p.Cys245Phe Uncertain significance Single submitter
PHIP p.Gln616His Conflicting Single submitter
Inborn genetic diseases
PHIP p.Gln620His Uncertain significance Single submitter
PHIP p.Glu1214Gly Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Glu1232Asp Uncertain significance Single submitter
PHIP p.Glu1240Asp Uncertain significance Single submitter
PHIP p.Glu1415Asp Uncertain significance Single submitter
PHIP p.Glu1793Lys Likely benign Single submitter
PHIP p.Glu362Gln Uncertain significance Single submitter
PHIP p.Glu419Gly Uncertain significance Single submitter
PHIP p.Glu653Lys Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Glu727Val Uncertain significance Single submitter
PHIP p.Glu963Asp Uncertain significance Single submitter
PHIP p.Gly1069Ala Uncertain significance Single submitter
PHIP p.Gly281Asp Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Gly53Glu Uncertain significance Single submitter
PHIP p.Gly622Arg Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Gly860Glu Uncertain significance Single submitter
PHIP p.His364Asn Uncertain significance Single submitter
PHIP p.His460Arg Uncertain significance Single submitter
PHIP p.His514Arg Conflicting Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.His537Leu Uncertain significance Single submitter
PHIP p.His794Arg Uncertain significance Single submitter
PHIP p.Ile1049Thr Uncertain significance Single submitter
PHIP p.Ile1180Thr Uncertain significance Single submitter
PHIP p.Ile179Met Uncertain significance Single submitter
PHIP p.Ile502Thr Uncertain significance Single submitter
PHIP p.Leu1347Arg Uncertain significance Single submitter
PHIP p.Leu221Phe Uncertain significance Single submitter
PHIP p.Lys1005Gln Uncertain significance Single submitter
PHIP p.Lys1114Asn Uncertain significance Single submitter
PHIP p.Lys1644Glu Uncertain significance Single submitter
PHIP p.Lys1658Glu Uncertain significance Single submitter
PHIP p.Lys548Asn Uncertain significance Single submitter
PHIP p.Met1040Val Uncertain significance Single submitter
PHIP-related disorder
PHIP p.Met1045Leu Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Met1225Ile Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Met429Val Likely pathogenic Single submitter
PHIP p.Met508Ile Likely pathogenic Single submitter
Neurodevelopmental delay
PHIP p.Phe17Leu Uncertain significance Single submitter
PHIP p.Phe17Ser Likely pathogenic Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Phe22Cys Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Phe314Cys Uncertain significance Single submitter
PHIP p.Phe349Leu Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Phe350Leu Uncertain significance Single submitter
PHIP p.Phe363Leu Uncertain significance Single submitter
PHIP p.Phe956Leu Uncertain significance Single submitter
PHIP p.Pro1293Ser Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Pro355Gln Uncertain significance Single submitter
PHIP p.Pro474Gln Uncertain significance Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Pro476Ser Uncertain significance Single submitter
PHIP p.Pro587Leu Uncertain significance Single submitter
PHIP p.Pro587Ser Benign Single submitter
PHIP p.Ser114Asn Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Ser1449Cys Uncertain significance Single submitter
PHIP p.Ser229Leu Likely pathogenic Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Ser352Pro Likely benign Single submitter
Developmental disorder
PHIP p.Ser849Phe Uncertain significance Single submitter
PHIP p.Thr1204Met Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Thr1359Ala Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Thr1768Ile Uncertain significance Single submitter
PHIP p.Thr1775Ile Likely benign Single submitter
PHIP p.Thr200Ser Uncertain significance Single submitter
PHIP p.Thr428Ser Likely pathogenic Single submitter
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Thr947Ile Uncertain significance Single submitter
PHIP p.Val1185Glu Uncertain significance Single submitter
PHIP p.Val368Ile Uncertain significance Single submitter
PHIP p.Val471Ala Uncertain significance Single submitter
PHIP p.Val64Met Uncertain significance Single submitter
PHIP p.Val717Ala Uncertain significance Single submitter
Inborn genetic diseases
PHIP p.Val964Leu Uncertain significance Single submitter
PHIP p.Ala742Pro Uncertain significance No assertion criteria
PHIP-related disorder
PHIP p.Arg110Ser Pathogenic No assertion criteria
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PHIP p.Arg48Cys Uncertain significance No assertion criteria
PHIP-related disorder
PHIP p.Arg658Cys Uncertain significance No assertion criteria
PHIP-related disorder
PHIP p.Arg952Gln Uncertain significance No assertion criteria
PHIP-related disorder
PHIP p.Asp1424His Uncertain significance No assertion criteria
PHIP-related disorder
PHIP p.Gln1088Leu Uncertain significance No assertion criteria
PHIP-related disorder
PHIP p.Gly141Asp Uncertain significance No assertion criteria
PHIP-related disorder
PHIP p.Gly456Ala Uncertain significance No assertion criteria
PHIP-related disorder
PHIP p.Lys1642Asn Uncertain significance No assertion criteria
PHIP-related disorder
PHIP p.Met239Ile Uncertain significance No assertion criteria
PHIP-related disorder
PHIP p.Met324Val Uncertain significance No assertion criteria
PHIP-related disorder
PHIP p.Phe335Leu Uncertain significance No assertion criteria
PHIP-related disorder
PHIP p.Pro46Leu Uncertain significance No assertion criteria
PHIP-related disorder
PHIP p.Thr1396Ile Uncertain significance No assertion criteria
PHIP-related disorder
PHIP p.Tyr16Cys Uncertain significance No assertion criteria
PHIP-related disorder

All PHIP variants

Pathogenic 76

p.Arg1229Ter Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg1505Ter Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg193Ter Multiple submitters Early onset severe obesity
p.Gln1211fs Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Gln1468Ter Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Gln274Ter Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Glu886Ter Multiple submitters
p.Ile1268fs Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Ile1318fs Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Tyr285Ter Multiple submitters
c.1628_1653+13del Single submitter
c.1654-2A>C Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.1879+1G>A Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.2319+1del Single submitter
c.2537+2T>A Single submitter
c.3656+1242A>T Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.4370+1G>A Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.600+1del Single submitter
c.923+1G>A Single submitter Inborn genetic diseases
p.Ala124fs Single submitter
p.Arg110His Single submitter ⚠
p.Arg1167fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg1308Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg250Ter Single submitter
p.Arg434Ter Single submitter
p.Arg81Ter Single submitter
p.Arg920fs Single submitter
p.Asn234_Tyr235insTer Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Asn308fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Cys1325_Glu1326delinsTer Single submitter
p.Gln1493fs Single submitter Early onset severe obesity
p.Gln1563Ter Single submitter
p.Gln171Ter Single submitter Inborn genetic diseases
p.Gln33Ter Single submitter
p.Gln890Ter Single submitter
p.Gln92Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Gln98Ter Single submitter
p.Glu1132Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Glu1685fs Single submitter Inborn genetic diseases
p.Glu976Ter Single submitter
p.Gly1154Ter Single submitter
p.Gly181fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Gly351fs Single submitter
p.Gly417fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Ile440fs Single submitter Inborn genetic diseases
p.Leu448fs Single submitter
p.Leu650fs Single submitter
p.Leu70Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Lys788fs Single submitter Inborn genetic diseases
p.Lys891fs Single submitter PHIP-related disorder
p.Lys915fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Phe1100fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Phe1414fs Single submitter
p.Pro769fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Ser1037Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Ser1392delinsTyrPheGlnTer Single submitter schizophrenia
p.Ser1524fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Ser1560fs Single submitter Inborn genetic diseases
p.Ser272Ter Single submitter
p.Ser287fs Single submitter
p.Ser484fs Single submitter
p.Ser600Ter Single submitter Inborn genetic diseases
p.Ser683Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Thr1198_Val1199insTer Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Thr750fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Trp1081Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Tyr235fs Single submitter
p.Tyr235Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Val1048fs Single submitter
p.Val1053_Leu1054insTer Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Val902fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg110Ser No assertion criteria PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Gln29fs No assertion criteria PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Gln579Ter No assertion criteria PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Leu100fs No assertion criteria PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Tyr1149Ter No assertion criteria PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Pathogenic/Likely pathogenic 17

p.Arg1065Ter Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg110Cys Multiple submitters intellectual disability
p.Arg1236Ter Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg1298Ter Multiple submitters syndromic intellectual disability
p.Arg1483Ter Multiple submitters Inborn genetic diseases
p.Arg1510Ter Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg178Ter Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg255Ter Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg396Ter Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg503Ter Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg721Ter Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg968Ter Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Gly223Val Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Ile307fs Multiple submitters PHIP-related disorder
p.Thr200fs Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Tyr1316Ter Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Gln1191Ter No assertion criteria PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Likely pathogenic 91

c.3782+3_3782+6del Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Asn507Ser Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.His266Arg Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Lys521Arg Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Ser287Tyr Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Ser484Phe Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.1096-2A>C Single submitter PHIP-related disorder
c.1137-2A>G Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.1137-7_1140del Single submitter
c.121_129+18del Single submitter
c.122_129+39delinsCGAGGCGGCCCGGGGCGCGGGGCTCAGCTCTCCCCGCTTTGTTGTTGCAGGTGCTGATCCGCGAGAA Single submitter Inborn genetic diseases
c.129+1G>A Single submitter
c.1654-1G>A Single submitter
c.2201+1G>A Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.2320-2A>G Single submitter
c.2770-1G>C Single submitter Early onset severe obesity
c.2890-2A>G Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.2890-8T>G Single submitter
c.3122+1_3122+8delinsATGTAAA Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.3122+2T>C Single submitter PHIP-related disorder
c.3205+1G>A Single submitter
c.3318-1G>C Single submitter
c.3379+1G>A Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.341-1G>A Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.3535+1G>A Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.3852+1G>A Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.41-7C>A Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.439+5G>T Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.4630+2_4630+5del Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.4631-2A>T Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.600+1G>C Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.822+1G>A Single submitter PHIP-related disorder
p.Ala485fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg1402Ser Single submitter ⚠
p.Arg163Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Asp1302fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Asp488Gly Single submitter
p.Cys1106Tyr Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Cys520fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Cys79Arg Single submitter
p.Gln790Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Gln922Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Gln98_Leu100del Single submitter
p.Glu1368Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Glu55Ter Single submitter PHIP-related disorder
p.Glu680fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Glu755Ter Single submitter PHIP-related disorder
p.Glu904fs Single submitter PHIP-related disorder
p.Gly1660fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Gly387Arg Single submitter Inborn genetic diseases
p.His182Arg Single submitter
p.His465Arg Single submitter Inborn genetic diseases
p.Ile1009Met Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Ile1168fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Ile509Phe Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Leu260fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Leu462fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Lys1114_Met1115insTer Single submitter PHIP-related disorder
p.Lys1288Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Lys901_Val902insTer Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Met1589fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Met429Val Single submitter ⚠
p.Met508Arg Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Met508fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Met508Ile Single submitter Neurodevelopmental delay ⚠
p.Phe1072_Ile1076delinsLeu Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Phe1530fs Single submitter
p.Phe17Cys Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Phe17Ser Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Pro144fs Single submitter
p.Pro726Ser Single submitter ⚠
p.Ser229Leu Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Thr423fs Single submitter PHIP-related disorder
p.Thr428fs Single submitter Inborn genetic diseases
p.Thr428Ser Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Trp298Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Trp300Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Trp399Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Trp719Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Trp739Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Trp855Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Trp993fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Trp993Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Tyr187Cys Single submitter
p.Tyr348fs Single submitter PHIP-related disorder
p.Tyr602Ter Single submitter PHIP-related disorder
p.Val138Gly Single submitter Inborn genetic diseases ⚠
p.Val427Phe Single submitter
c.995-18_1005del No assertion criteria PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Asp488Val No assertion criteria PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Glu963Gly No assertion criteria PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Conflicting classifications of pathogenicity 44

p.Ala1597Val Single submitter Inborn genetic diseases ⚠
p.Ala1616Thr Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Ala516Thr Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Ala569Val Single submitter Inborn genetic diseases ⚠
p.Arg1310His Single submitter Early onset severe obesity ⚠
p.Arg1773Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg669Cys Single submitter Inborn genetic diseases ⚠
p.Arg797His Single submitter Inborn genetic diseases ⚠
p.Arg952Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Asn1693Ser Single submitter Inborn genetic diseases ⚠
p.Asn872Ser Single submitter Inborn genetic diseases ⚠
p.Asn903Lys Single submitter Inborn genetic diseases ⚠
p.Asp1704Glu Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Asp594Glu Single submitter Early onset severe obesity ⚠
p.Gln33Glu Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Gln616His Single submitter Inborn genetic diseases ⚠
p.Glu1499fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Glu1755Gln Single submitter Inborn genetic diseases ⚠
p.Glu680Asp Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Glu836del Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Gly201Val Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Gly464Arg Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Gly660Val Single submitter Inborn genetic diseases ⚠
p.His514Arg Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Leu1257del Single submitter Inborn genetic diseases
p.Leu1271Val Single submitter Inborn genetic diseases ⚠
p.Leu44= Single submitter
p.Lys889Asn Single submitter Inborn genetic diseases ⚠
p.Lys989Arg Single submitter PHIP-related disorder ⚠
p.Met1275Val Single submitter Inborn genetic diseases ⚠
p.Met1361Val Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Met1379Val Single submitter PHIP-related disorder ⚠
p.Pro410Ala Single submitter Inborn genetic diseases ⚠
p.Ser1762Pro Single submitter Inborn genetic diseases ⚠
p.Thr1506Ala Single submitter ⚠
p.Thr167Ala Single submitter intellectual disability, X-linked 102 ⚠
p.Thr438Ala Single submitter Inborn genetic diseases ⚠
p.Thr944Ala Single submitter Inborn genetic diseases ⚠
p.Thr949Ala Single submitter PHIP-related disorder ⚠
p.Thr949Ser Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Val1169Ala Single submitter PHIP-related disorder ⚠
p.Val1366Ile Single submitter Inborn genetic diseases ⚠
p.Val1647= Single submitter
p.Val681Ile Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠

Benign 97

c.2017+48G>A Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.2537+40G>A Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.4207-10del Multiple submitters
p.Ala1412= Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg657= Multiple submitters
p.Asp1060= Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Leu1093Pro Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Leu1410= Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Thr944= Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Val1385= Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Val663Gly Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.1136+313A>T Single submitter
c.1235+9T>A Single submitter
c.1389+118G>A Single submitter
c.1389+11dup Single submitter
c.1524+59G>T Single submitter
c.1654-131T>C Single submitter
c.2017+231A>G Single submitter
c.2018-271A>G Single submitter
c.2201+19T>G Single submitter
c.2201+6G>A Single submitter
c.2202-278A>G Single submitter
c.2319+260C>G Single submitter
c.2320-314G>A Single submitter
c.2320-316A>G Single submitter
c.2460+71C>T Single submitter
c.2461-179T>C Single submitter
c.2537+55dup Single submitter
c.2769+204T>G Single submitter
c.2770-24_2770-11del Single submitter
c.2998-173A>G Single submitter
c.3122+6G>A Single submitter
c.3206-289C>T Single submitter
c.3535+292T>C Single submitter
c.3536-206A>G Single submitter
c.3657-18A>T Single submitter
c.3657-4del Single submitter
c.3783-13C>T Single submitter
c.3852+120A>T Single submitter
c.3852+131del Single submitter
c.3904-68A>G Single submitter
c.4053+91A>G Single submitter
c.4054-12T>A Single submitter
c.4054-184dup Single submitter
c.41-25C>T Single submitter
c.4206+298G>A Single submitter
c.4206+5_4206+8del Single submitter
c.4207-11_4207-10dup Single submitter
c.4370+18_4370+19insC Single submitter
c.439+14G>C Single submitter
c.440-266T>C Single submitter
c.440-72A>G Single submitter
c.4630+241C>T Single submitter
c.4828+217del Single submitter
c.600+19A>G Single submitter
c.601-205G>C Single submitter
c.601-304del Single submitter
c.601-4T>G Single submitter
c.923+205dup Single submitter
c.924-7A>G Single submitter
c.99+18G>A Single submitter
c.*179TA[7] Single submitter
c.*179TA[8] Single submitter
p.Ala1181Ser Single submitter
p.Ala1492Thr Single submitter
p.Ala1616Val Single submitter
p.Ala40= Single submitter
p.Arg1298Gln Single submitter
p.Arg1308del Single submitter
p.Arg1430Cys Single submitter
p.Asn1490Ser Single submitter
p.Asn1699= Single submitter
p.Asn490= Single submitter
p.Asn666Asp Single submitter
p.Asn704= Single submitter
p.Asp1726Asn Single submitter
p.Asp1751Ala Single submitter
p.Cys188= Single submitter
p.Gln1563= Single submitter
p.Glu823Lys Single submitter
p.Gly1142= Single submitter
p.Gly141= Single submitter
p.Gly1562Arg Single submitter
p.Gly1569Asp Single submitter
p.Gly1712= Single submitter
p.Ile1318Phe Single submitter
p.Ile1494Lys Single submitter
p.Leu1617Phe Single submitter
p.Leu1695Phe Single submitter
p.Leu286= Single submitter
p.Met1361Leu Single submitter
p.Phe470= Single submitter
p.Pro587Ser Single submitter ⚠
p.Thr167Ser Single submitter
p.Thr338= Single submitter
p.Tyr285= Single submitter
p.Val869= Single submitter

Benign/Likely benign 23

c.3535+18C>T Multiple submitters
c.3904-14C>A Multiple submitters
c.4207-10dup Multiple submitters
c.600+16A>C Multiple submitters
c.601-4T>C Multiple submitters
c.822+19A>G Multiple submitters
c.823-18C>T Multiple submitters
p.Ala241= Multiple submitters
p.Arg1441= Multiple submitters
p.Arg1441Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg752= Multiple submitters
p.Glu614= Multiple submitters
p.Glu929Val Multiple submitters Inborn genetic diseases
p.Ile1049= Multiple submitters
p.Ile1544Val Multiple submitters
p.Leu716= Multiple submitters
p.Lys521= Multiple submitters
p.Lys875Gln Multiple submitters
p.Ser1524= Multiple submitters
p.Thr220= Multiple submitters
p.Thr874Ile Multiple submitters
p.Tyr549= Multiple submitters
p.Val687Ile Multiple submitters Inborn genetic diseases

Likely benign 426

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

c.1236-12C>A Multiple submitters
c.2538-8C>G Multiple submitters
c.3379+12T>C Multiple submitters
c.3535+19G>A Multiple submitters
c.4053+8T>A Multiple submitters
c.4207-5C>T Multiple submitters Inborn genetic diseases
p.Ala127= Multiple submitters
p.Ala1727Val Multiple submitters Inborn genetic diseases
p.Arg979Gln Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg979Trp Multiple submitters
p.Asn414= Multiple submitters
p.Gln1057= Multiple submitters
p.Gln1174= Multiple submitters
p.Ile1269Val Multiple submitters
p.Phe1251= Multiple submitters
p.Phe17= Multiple submitters
p.Pro1360= Multiple submitters
p.Ser401Asn Multiple submitters
p.Ser832= Multiple submitters
p.Thr1529Pro Multiple submitters Inborn genetic diseases
p.Tyr159= Multiple submitters
p.Tyr170= Multiple submitters
p.Val138= Multiple submitters
p.Val975= Multiple submitters
c.100-14C>G Single submitter
c.100-16C>T Single submitter
c.100-18C>T Single submitter
c.100-4G>A Single submitter
c.1095+8T>C Single submitter
c.1096-16_1096-13del Single submitter
c.1096-4A>G Single submitter
c.1136+14C>G Single submitter
c.1137-19C>T Single submitter
c.1137-5T>C Single submitter
c.1235+8G>T Single submitter
c.129+12_129+42del Single submitter
c.129+13G>A Single submitter
c.129+15G>A Single submitter
c.129+7G>T Single submitter
c.129+8C>T Single submitter
c.129+9G>A Single submitter
c.130-10C>G Single submitter
c.130-12C>T Single submitter
c.130-13C>T Single submitter
c.130-17G>T Single submitter
c.130-4G>T Single submitter
c.130-5C>T Single submitter
c.130-8C>A Single submitter
c.1389+10A>T Single submitter
c.1389+19C>T Single submitter
c.1390-20A>G Single submitter
c.1524+18C>T Single submitter
c.1524+7dup Single submitter
c.1524+9_1524+11del Single submitter
c.1653+11A>G Single submitter
c.1653+13G>C Single submitter
c.1653+17A>G Single submitter
c.1653+8A>T Single submitter
c.1653+9T>G Single submitter
c.1879+10C>T Single submitter
c.1879+12T>C Single submitter
c.1880-16G>C Single submitter
c.1880-19T>C Single submitter
c.1880-4A>G Single submitter
c.2018-20A>G Single submitter
c.2202-14C>A Single submitter
c.2202-18_2202-17del Single submitter
c.2202-7C>A Single submitter
c.2320-14T>G Single submitter
c.2320-16_2320-12del Single submitter
c.2320-5dup Single submitter
c.2460+20A>G Single submitter
c.2461-10C>T Single submitter
c.2461-20A>G Single submitter
c.2461-5C>T Single submitter
c.2537+11G>A Single submitter
c.2537+18A>C Single submitter
c.2538-7C>T Single submitter
c.2769+13A>G Single submitter
c.2769+15A>G Single submitter
c.2770-18T>C Single submitter
c.2770-20T>C Single submitter
c.2770-5G>T Single submitter
c.2889+9A>G Single submitter
c.2890-14A>T Single submitter
c.2890-16T>C Single submitter
c.2997+7C>G Single submitter
c.2997+8A>C Single submitter
c.2997+8A>G Single submitter
c.2997+9T>C Single submitter
c.3122+8C>A Single submitter
c.3123-14_3123-13del Single submitter
c.3205+14T>A Single submitter
c.3205+19A>C Single submitter
c.3317+12T>C Single submitter
c.3318-16T>G Single submitter
c.3318-20A>G Single submitter
c.3318-5T>G Single submitter
c.3379+11G>A Single submitter
c.3380-20G>A Single submitter
c.3380-7A>G Single submitter
c.340+17A>G Single submitter
c.340+4T>A Single submitter
c.340+8A>T Single submitter
c.3535+16C>A Single submitter
c.3535+16C>T Single submitter
c.3535+17G>A Single submitter
c.3535+6T>C Single submitter
c.3535+8A>G Single submitter
c.3536-11A>G Single submitter
c.3656+1235A>G Single submitter
c.3656+1237_3656+1239dup Single submitter
c.3656+1238_3656+1239dup Single submitter
c.3656+1239del Single submitter
c.3656+1239dup Single submitter
c.3656+17G>A Single submitter
c.3657-20C>G Single submitter
c.3657-6T>A Single submitter
c.3782+19T>C Single submitter
c.3783-6A>G Single submitter
c.3852+17T>C Single submitter
c.3852+20T>G Single submitter
c.3852+8A>G Single submitter
c.3903+18T>C Single submitter
c.3903+7_3903+8del Single submitter
c.4053+13G>T Single submitter
c.4053+19A>G Single submitter
c.4053+8T>C Single submitter
c.4053+8T>G Single submitter
c.4054-11C>A Single submitter
c.4054-5C>T Single submitter
c.4054-7C>T Single submitter
c.4054-9C>T Single submitter
c.41-13C>G Single submitter
c.41-13C>T Single submitter
c.41-15C>T Single submitter
c.41-17C>T Single submitter
c.41-6G>A Single submitter
c.41-7C>T Single submitter
c.41-8C>T Single submitter
c.4206+13A>C Single submitter
c.4207-10T>C Single submitter
c.4207-14T>C Single submitter
c.4207-19T>C Single submitter
c.4207-7dup Single submitter
c.4371-18A>G Single submitter
c.439+14G>A Single submitter
c.439+9_439+12del Single submitter
c.440-13T>C Single submitter
c.440-14C>G Single submitter
c.4630+20T>C Single submitter
c.4630+7C>G Single submitter
c.4631-11G>C Single submitter
c.4631-23_4631-16del Single submitter
c.4631-7G>A Single submitter
c.4828+19C>T Single submitter
c.4829-7dup Single submitter
c.600+13T>A Single submitter
c.600+14A>G Single submitter
c.601-14_601-13del Single submitter
c.601-15C>T Single submitter
c.601-19T>C Single submitter
c.601-8A>T Single submitter
c.923+20C>T Single submitter
c.923+3C>A Single submitter
c.923+3C>G Single submitter
c.924-16A>G Single submitter
c.924-7A>T Single submitter
c.99+12C>G Single submitter
c.99+14_99+20del Single submitter
c.99+15G>A Single submitter
c.99+19C>G Single submitter
c.99+7C>T Single submitter
c.994+10C>T Single submitter
c.994+17C>G Single submitter
c.995-14G>A Single submitter
p.Ala1192= Single submitter
p.Ala1290= Single submitter
p.Ala1320= Single submitter
p.Ala1491= Single submitter
p.Ala1492= Single submitter
p.Ala1534= Single submitter
p.Ala1597= Single submitter
p.Ala168= Single submitter
p.Ala1727= Single submitter
p.Ala219= Single submitter
p.Ala232= Single submitter
p.Ala337= Single submitter
p.Ala442= Single submitter
p.Ala569= Single submitter
p.Ala71= Single submitter
p.Ala730= Single submitter
p.Arg1212= Single submitter
p.Arg1220= Single submitter
p.Arg1446Gly Single submitter
p.Arg1483Leu Single submitter Inborn genetic diseases
p.Arg1510= Single submitter
p.Arg1587His Single submitter
p.Arg160= Single submitter
p.Arg1711Leu Single submitter
p.Arg1718= Single submitter
p.Arg197Trp Single submitter autism spectrum disorder
p.Arg21= Single submitter
p.Arg317= Single submitter
p.Arg385Cys Single submitter ⚠
p.Arg390= Single submitter
p.Arg613= Single submitter
p.Arg690= Single submitter
p.Arg752Gly Single submitter
p.Arg953= Single submitter
p.Asn1173= Single submitter
p.Asn1495= Single submitter
p.Asn1615= Single submitter
p.Asn686= Single submitter
p.Asn814= Single submitter
p.Asp1047= Single submitter
p.Asp1060Tyr Single submitter
p.Asp1285= Single submitter
p.Asp1317Asn Single submitter
p.Asp1611= Single submitter
p.Asp246= Single submitter
p.Asp50= Single submitter
p.Asp554= Single submitter
p.Asp655= Single submitter
p.Asp962= Single submitter
p.Cys1612Ser Single submitter
p.Gln1101= Single submitter
p.Gln1334= Single submitter
p.Gln30= Single submitter
p.Gln393= Single submitter
p.Gln616= Single submitter
p.Gln651= Single submitter
p.Gln700= Single submitter
p.Gln922Lys Single submitter
p.Glu1094= Single submitter
p.Glu1227= Single submitter
p.Glu1793Lys Single submitter ⚠
p.Glu24Gln Single submitter
p.Glu680= Single submitter
p.Glu713= Single submitter
p.Glu833= Single submitter
p.Glu905= Single submitter
p.Gly1035= Single submitter
p.Gly131= Single submitter
p.Gly1541= Single submitter
p.Gly1626= Single submitter
p.Gly1629Arg Single submitter
p.Gly1652= Single submitter
p.Gly201= Single submitter
p.Gly387= Single submitter
p.Gly417= Single submitter
p.Gly515= Single submitter
p.Gly536= Single submitter
p.Gly822= Single submitter
p.His475= Single submitter
p.His702= Single submitter
p.His794= Single submitter
p.Ile1085= Single submitter
p.Ile1148= Single submitter
p.Ile1168= Single submitter
p.Ile1269= Single submitter
p.Ile1746Thr Single submitter
p.Ile19= Single submitter
p.Ile325= Single submitter
p.Ile768Met Single submitter
p.Ile910Val Single submitter
p.Leu109= Single submitter
p.Leu1122= Single submitter
p.Leu1133= Single submitter
p.Leu1147= Single submitter
p.Leu1257= Single submitter
p.Leu1634= Single submitter
p.Leu1791= Single submitter
p.Leu18= Single submitter
p.Leu336= Single submitter
p.Leu496= Single submitter
p.Leu605= Single submitter
p.Leu650= Single submitter
p.Leu689= Single submitter
p.Leu85= Single submitter
p.Leu930= Single submitter
p.Lys1636= Single submitter
p.Lys1642= Single submitter
p.Lys1665Gln Single submitter
p.Lys1724Asn Single submitter Early onset severe obesity
p.Lys1760Arg Single submitter
p.Lys247= Single submitter
p.Lys915Glu Single submitter
p.Phe1413= Single submitter
p.Phe1566= Single submitter
p.Phe1792= Single submitter
p.Phe22= Single submitter
p.Phe477= Single submitter
p.Phe543= Single submitter
p.Pro1117= Single submitter
p.Pro1187= Single submitter
p.Pro1241= Single submitter
p.Pro1344= Single submitter
p.Pro137= Single submitter
p.Pro143= Single submitter

Uncertain significance 555

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

c.1525-8T>C Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.4206+5A>G Multiple submitters PHIP-related disorder
c.4828+4_4828+8del Multiple submitters
p.Ala211Thr Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Arg1065Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1220Trp Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Arg1310Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1409Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg160Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg1743Gln Multiple submitters PHIP-related disorder ⚠
p.Arg1806Ter Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Arg346Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg390Cys Multiple submitters ⚠
p.Arg691Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg799Ile Multiple submitters Inborn genetic diseases ⚠
p.Arg837Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg999Trp Multiple submitters Inborn genetic diseases ⚠
p.Asn1770Lys Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Asn795His Multiple submitters Inborn genetic diseases ⚠
p.Asp1153Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp1254Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys245Trp Multiple submitters ⚠
p.Cys28Arg Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Gln1771Glu Multiple submitters ⚠
p.Gln638Glu Multiple submitters Inborn genetic diseases ⚠
p.Glu1499Lys Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Gly412Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly731Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1006Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1231Val Multiple submitters Inborn genetic diseases ⚠
p.Ile270Thr Multiple submitters ⚠
p.Ile946Val Multiple submitters ⚠
p.Leu1256Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1429Val Multiple submitters ⚠
p.Leu1674Val Multiple submitters Inborn genetic diseases ⚠
p.Lys65Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys893Arg Multiple submitters ⚠
p.Lys916Asn Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Lys980Glu Multiple submitters ⚠
p.Met239Val Multiple submitters Inborn genetic diseases ⚠
p.Phe329Cys Multiple submitters Inborn genetic diseases ⚠
p.Pro1344Leu Multiple submitters ⚠
p.Pro144Leu Multiple submitters ⚠
p.Pro992Thr Multiple submitters ⚠
p.Ser674Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser828Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr1030Ile Multiple submitters PHIP-related disorder ⚠
p.Thr1204Ala Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Thr1436Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr338Met Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Thr447Ala Multiple submitters Inborn genetic diseases ⚠
p.Tyr1193Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr1202Cys Multiple submitters Inborn genetic diseases ⚠
p.Val1516Ile Multiple submitters PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Val1737Met Multiple submitters PHIP-related disorder ⚠
p.Val762Ile Multiple submitters Inborn genetic diseases ⚠
p.Val771Ile Multiple submitters PHIP-related disorder ⚠
c.100-3C>T Single submitter
c.1096-14_1096-7del Single submitter
c.1137-3C>G Single submitter Early onset severe obesity
c.1235+6A>T Single submitter
c.1389+5G>A Single submitter Inborn genetic diseases
c.1524+4A>G Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.1653+3A>T Single submitter
c.1653+5A>G Single submitter Inborn genetic diseases
c.1654-10C>A Single submitter
c.1654-6T>C Single submitter
c.1879+3A>G Single submitter
c.1880-1G>A Single submitter Inborn genetic diseases
c.2017+6C>T Single submitter
c.2201+2092G>A Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.2202-10_2202-8delinsGG Single submitter
c.2202-4T>A Single submitter Inborn genetic diseases
c.2461-17T>C Single submitter
c.2538-3del Single submitter
c.2769+3T>G Single submitter Inborn genetic diseases
c.2769+6G>C Single submitter
c.2998-13C>G Single submitter
c.2998-14T>C Single submitter
c.2998-5C>T Single submitter
c.3122+3_3122+4del Single submitter
c.3379+6T>C Single submitter
c.340+3A>G Single submitter
c.340+5G>C Single submitter
c.341-1G>C Single submitter Inborn genetic diseases
c.3536-5T>G Single submitter intellectual disability
c.3656+1431A>G Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.3656+3T>C Single submitter
c.3657-5T>C Single submitter
c.3782+405T>C Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.3782+4A>C Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
c.3852+4T>C Single submitter
c.3853-13T>G Single submitter
c.3853-5C>G Single submitter
c.4053+4A>G Single submitter
c.4053+6T>C Single submitter
c.4054-10_4054-9insAACA Single submitter
c.4371-12_4371-11inv Single submitter
c.4371-6T>G Single submitter
c.439+2T>G Single submitter intellectual disability
c.440-15T>C Single submitter
c.4828+5G>A Single submitter
c.600+5_600+8del Single submitter
c.823-11T>A Single submitter
c.99+5G>C Single submitter
c.99+6G>C Single submitter
c.994+4A>G Single submitter
c.995-3T>C Single submitter
c.*3497A>T Single submitter
p.Ala1061Glu Single submitter ⚠
p.Ala1170Val Single submitter ⚠
p.Ala1186Gly Single submitter Inborn genetic diseases ⚠
p.Ala126Gly Single submitter ⚠
p.Ala126Ser Single submitter
p.Ala1394Val Single submitter Inborn genetic diseases ⚠
p.Ala1477Thr Single submitter ⚠
p.Ala147Val Single submitter ⚠
p.Ala1554Gly Single submitter ⚠
p.Ala1554Val Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Ala1597_Lys1602del Single submitter
p.Ala1616Ser Single submitter ⚠
p.Ala1814Pro Single submitter ⚠
p.Ala211Glu Single submitter ⚠
p.Ala219Gly Single submitter ⚠
p.Ala232Thr Single submitter Inborn genetic diseases ⚠
p.Ala337Val Single submitter ⚠
p.Ala407Gly Single submitter Inborn genetic diseases ⚠
p.Ala407Ser Single submitter Inborn genetic diseases ⚠
p.Ala530Val Single submitter ⚠
p.Ala662Pro Single submitter Inborn genetic diseases ⚠
p.Ala71Pro Single submitter ⚠
p.Ala733Asp Single submitter ⚠
p.Ala733Val Single submitter Inborn genetic diseases ⚠
p.Ala742Ser Single submitter ⚠
p.Ala826Thr Single submitter ⚠
p.Ala877Gly Single submitter ⚠
p.Ala973Asp Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Ala973Val Single submitter ⚠
p.Arg1071Cys Single submitter ⚠
p.Arg110Leu Single submitter ⚠
p.Arg132Gly Single submitter ⚠
p.Arg1386Gly Single submitter ⚠
p.Arg1386Lys Single submitter ⚠
p.Arg1409_Leu1410= Single submitter
p.Arg1430Gly Single submitter Inborn genetic diseases ⚠
p.Arg1430His Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Arg1446Ile Single submitter ⚠
p.Arg1483Gln Single submitter ⚠
p.Arg1505Gln Single submitter ⚠
p.Arg1507Gly Single submitter ⚠
p.Arg1571Met Single submitter ⚠
p.Arg1571Ser Single submitter PHIP-related disorder ⚠
p.Arg1587Pro Single submitter ⚠
p.Arg163Gln Single submitter ⚠
p.Arg1661Gly Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Arg1711Gly Single submitter ⚠
p.Arg1711His Single submitter Inborn genetic diseases ⚠
p.Arg1740del Single submitter
p.Arg1743Ter Single submitter
p.Arg1808Ter Single submitter
p.Arg193Gln Single submitter ⚠
p.Arg255Gln Single submitter ⚠
p.Arg37Cys Single submitter Inborn genetic diseases ⚠
p.Arg409His Single submitter ⚠
p.Arg47Gly Single submitter Inborn genetic diseases ⚠
p.Arg498Thr Single submitter ⚠
p.Arg563Gln Single submitter ⚠
p.Arg567Pro Single submitter Inborn genetic diseases ⚠
p.Arg601Ile Single submitter ⚠
p.Arg601Ser Single submitter
p.Arg609His Single submitter ⚠
p.Arg613Lys Single submitter ⚠
p.Arg613Thr Single submitter ⚠
p.Arg658His Single submitter Inborn genetic diseases ⚠
p.Arg669His Single submitter ⚠
p.Arg691Cys Single submitter ⚠
p.Arg691His Single submitter Inborn genetic diseases ⚠
p.Arg699Gln Single submitter ⚠
p.Arg714Trp Single submitter ⚠
p.Arg721Gln Single submitter ⚠
p.Arg721Pro Single submitter ⚠
p.Arg735Gly Single submitter Inborn genetic diseases ⚠
p.Arg797Cys Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Arg797Pro Single submitter ⚠
p.Arg799Ser Single submitter ⚠
p.Arg807Gly Single submitter ⚠
p.Arg968Gln Single submitter
p.Asn1104Asp Single submitter ⚠
p.Asn1104Ser Single submitter Inborn genetic diseases ⚠
p.Asn1104Tyr Single submitter
p.Asn1109Ser Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Asn112Ser Single submitter ⚠
p.Asn1159Ser Single submitter ⚠
p.Asn1311Ser Single submitter ⚠
p.Asn1374Tyr Single submitter PHIP-related disorder ⚠
p.Asn1572His Single submitter ⚠
p.Asn1572Lys Single submitter ⚠
p.Asn1650Ser Single submitter ⚠
p.Asn1678Lys Single submitter ⚠
p.Asn1699Asp Single submitter Inborn genetic diseases ⚠
p.Asn1710Ser Single submitter ⚠
p.Asn308Lys Single submitter ⚠
p.Asn774Ser Single submitter Inborn genetic diseases ⚠
p.Asn792Ser Single submitter Inborn genetic diseases ⚠
p.Asn981Ser Single submitter ⚠
p.Asp1027Tyr Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Asp1044Val Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Asp1070Asn Single submitter Inborn genetic diseases
p.Asp1078Asn Single submitter
p.Asp1111Gly Single submitter ⚠
p.Asp1153Val Single submitter ⚠
p.Asp1179His Single submitter ⚠
p.Asp1205Val Single submitter ⚠
p.Asp1262Tyr Single submitter ⚠
p.Asp1346Glu Single submitter ⚠
p.Asp1358His Single submitter ⚠
p.Asp1673_Leu1674insTer Single submitter neurodevelopmental disorder
p.Asp1684Val Single submitter ⚠
p.Asp1747Glu Single submitter Inborn genetic diseases ⚠
p.Asp1748_Pro1749insAsp Single submitter
p.Asp1748Asn Single submitter ⚠
p.Asp192His Single submitter ⚠
p.Asp203Gly Single submitter ⚠
p.Asp204Glu Single submitter ⚠
p.Asp213Glu Single submitter Inborn genetic diseases ⚠
p.Asp246Glu Single submitter ⚠
p.Asp292Gly Single submitter ⚠
p.Asp301His Single submitter ⚠
p.Asp386Val Single submitter ⚠
p.Asp478Asn Single submitter ⚠
p.Asp488Tyr Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Asp495Val Single submitter ⚠
p.Asp50Glu Single submitter ⚠
p.Asp820Val Single submitter intellectual disability ⚠
p.Asp847Gly Single submitter ⚠
p.Asp854Glu Single submitter ⚠
p.Asp962Ala Single submitter ⚠
p.Cys1102Arg Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Cys1197Arg Single submitter ⚠
p.Cys1692Phe Single submitter ⚠
p.Cys188Arg Single submitter
p.Cys188Phe Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Cys245Phe Single submitter ⚠
p.Gln1174His Single submitter ⚠
p.Gln1211Arg Single submitter ⚠
p.Gln1263Glu Single submitter ⚠
p.Gln1319His Single submitter ⚠
p.Gln1493Pro Single submitter ⚠
p.Gln1609Pro Single submitter ⚠
p.Gln1667fs Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Gln1667Ter Single submitter
p.Gln1787Leu Single submitter ⚠
p.Gln620His Single submitter ⚠
p.Gln635Arg Single submitter ⚠
p.Gln890Glu Single submitter ⚠
p.Gln98Arg Single submitter ⚠
p.Glu1094Lys Single submitter ⚠
p.Glu1214Gln Single submitter ⚠
p.Glu1214Gly Single submitter Inborn genetic diseases ⚠
p.Glu1232Asp Single submitter ⚠
p.Glu1240Asp Single submitter ⚠
p.Glu1415Asp Single submitter ⚠
p.Glu1499Gln Single submitter Inborn genetic diseases ⚠
p.Glu1685Gly Single submitter ⚠
p.Glu1752Gly Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Glu1752Val Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Glu1757Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Glu1758Ter Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Glu362Gln Single submitter ⚠
p.Glu419Gly Single submitter ⚠
p.Glu41Ala Single submitter Inborn genetic diseases ⚠
p.Glu41Gln Single submitter ⚠
p.Glu43Asp Single submitter ⚠
p.Glu653Lys Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Glu661Asp Single submitter ⚠
p.Glu727Val Single submitter ⚠
p.Glu747del Single submitter
p.Glu810Lys Single submitter ⚠
p.Glu811_Ile812insThrProArgProSerGluGlu Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
p.Glu811Asp Single submitter ⚠
p.Glu823Ala Single submitter ⚠
p.Glu905Asp Single submitter Inborn genetic diseases ⚠
p.Glu905Val Single submitter ⚠
p.Glu939del Single submitter
p.Glu963Asp Single submitter ⚠
p.Glu972Lys Single submitter
p.Glu976Lys Single submitter Inborn genetic diseases ⚠
p.Glu997Asp Single submitter ⚠
p.Gly1069Ala Single submitter ⚠
p.Gly1110Glu Single submitter ⚠
p.Gly1142Val Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Gly1157Val Single submitter
p.Gly1242Ala Single submitter ⚠
p.Gly1242Glu Single submitter ⚠
p.Gly1569Ser Single submitter ⚠
p.Gly1761fs Single submitter Inborn genetic diseases
p.Gly181Arg Single submitter exercise intolerance, riboflavin-responsive ⚠
p.Gly281Asp Single submitter PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ⚠
p.Gly53Glu Single submitter ⚠
p.Gly622Arg Single submitter Inborn genetic diseases ⚠