AHDC1 — 1457 ClinVar variants

All ClinVar germline AHDC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 696 flagged for review →

128 Pathogenic · 6 Pathogenic/Likely pathogenic · 49 Likely pathogenic · 102 Conflicting · 41 Benign · 58 Benign/Likely benign · 469 Likely benign · 604 Uncertain significance

Full AHDC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 696

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 2

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

AHDC1 p.Pro1009Ala Likely pathogenic Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Pro1304Arg Likely pathogenic Single submitter
Neurodevelopmental delay

Predictors agree, ClinVar conflicts 86

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

AHDC1 p.Ala1001Thr Conflicting Single submitter
AHDC1 p.Ala1018Thr Conflicting Single submitter
AHDC1-related disorder
AHDC1 p.Ala1085Val Conflicting Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Ala1473Val Conflicting Single submitter
AHDC1 p.Ala1563Thr Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Ala1573Val Conflicting Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Ala263Thr Conflicting Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Ala383Thr Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Ala56Thr Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Ala629Thr Conflicting Single submitter
AHDC1 p.Ala907Val Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Ala917Thr Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Arg1100Gln Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Arg115Gln Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Arg1184His Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Arg1523Trp Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Arg154His Conflicting Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Arg192Gln Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Arg192Trp Conflicting Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Arg346His Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Arg386His Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Arg412Cys Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Arg728Gln Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Arg728Trp Conflicting Single submitter
AHDC1 p.Arg73His Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Arg813His Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Arg832His Conflicting Single submitter
AHDC1 p.Arg865Gln Conflicting Single submitter
AHDC1 p.Arg87Gln Conflicting Single submitter
AHDC1 p.Arg956Cys Conflicting Single submitter
AHDC1 p.Asp1515Asn Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Asp20Asn Conflicting Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Asp232Gly Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Asp335Glu Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Gln279Glu Conflicting Single submitter
AHDC1 p.Glu203Gln Conflicting Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Glu203Lys Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Glu270Lys Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Glu59Lys Conflicting Single submitter
AHDC1 p.Gly1026Arg Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Gly102Arg Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Gly1181Val Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Gly1277Ser Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Gly1393Ser Conflicting Single submitter
AHDC1 p.Gly224Val Conflicting Single submitter
AHDC1 p.Gly292Arg Conflicting Single submitter
AHDC1 p.Gly31Ser Conflicting Single submitter
AHDC1 p.Gly711Glu Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Gly714Ala Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Gly788Val Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.His1427Arg Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.His214Tyr Conflicting Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Ile1344Thr Conflicting Single submitter
AHDC1 p.Leu291Phe Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Leu340Pro Conflicting Single submitter
AHDC1 p.Leu422Gln Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Lys391Arg Conflicting Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Lys725Arg Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Lys739Arg Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Lys772Arg Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Met1349Val Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Phe1182Val Conflicting Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Pro1373Ala Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Pro1450Leu Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Pro1528Leu Conflicting Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Pro271Ser Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Pro29Thr Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Pro336Leu Conflicting Single submitter
AHDC1 p.Pro370Leu Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Pro430Thr Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Pro445Leu Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Pro453Leu Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Pro47Ala Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Pro922Leu Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Ser1033Asn Conflicting Single submitter
AHDC1 p.Ser1095Leu Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Ser233Asn Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Ser268Leu Conflicting Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Thr219Met Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Thr34Pro Conflicting Single submitter
AHDC1 p.Thr819Met Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Tyr1020Cys Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Val483Leu Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Val513Met Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Val707Met Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Val980Ile Conflicting Single submitter
Inborn genetic diseases

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

AHDC1 p.Gly375fs Conflicting Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

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

AHDC1 p.Ala1256Ser Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Ala1440Thr Uncertain significance Multiple submitters
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Ala1442Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Ala1498Val Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Ala242Thr Uncertain significance Multiple submitters
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Ala576Val Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Ala605Thr Uncertain significance Multiple submitters
AHDC1 p.Ala683Val Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Ala710Thr Uncertain significance Multiple submitters
AHDC1 p.Ala777Asp Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Ala777Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Ala867Ser Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Ala88Glu Uncertain significance Multiple submitters
AHDC1 p.Ala905Thr Uncertain significance Multiple submitters
AHDC1 p.Ala917Val Uncertain significance Multiple submitters
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Arg1413Trp Uncertain significance Multiple submitters
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Arg1447Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Arg1475His Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Arg1529His Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Arg347His Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Arg36Gln Uncertain significance Multiple submitters
AHDC1 p.Arg401Gln Uncertain significance Multiple submitters
AHDC1 p.Arg469Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Arg67Trp Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Arg883Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Arg891Gln Uncertain significance Multiple submitters
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Arg90Cys Uncertain significance Multiple submitters
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Arg918His Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Asn1006Ser Uncertain significance Multiple submitters
AHDC1-related disorder
AHDC1 p.Asp1457Asn Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Asp162Asn Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Asp20Glu Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Asp335His Uncertain significance Multiple submitters
AHDC1 p.Cys16Arg Uncertain significance Multiple submitters
AHDC1 p.Gln1155Arg Uncertain significance Multiple submitters
AHDC1 p.Gln1453Lys Uncertain significance Multiple submitters
AHDC1 p.Gln754Arg Uncertain significance Multiple submitters
AHDC1 p.Glu361Lys Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Glu642Asp Uncertain significance Multiple submitters
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Glu807Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Glu827Lys Uncertain significance Multiple submitters
AHDC1 p.Gly104Asp Uncertain significance Multiple submitters
AHDC1 p.Gly1313Ser Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Gly1481Asp Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Gly1578Ser Uncertain significance Multiple submitters
AHDC1 p.Gly729Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Gly781Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Gly785Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Gly973Ser Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.His1364Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Leu1375Phe Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Leu1556Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Leu197Phe Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Leu393Pro Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Leu828Pro Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Lys1516Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Pro1231Leu Uncertain significance Multiple submitters
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Pro1382Leu Uncertain significance Multiple submitters
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Pro373Ala Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Pro374Ser Uncertain significance Multiple submitters
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Pro380Leu Uncertain significance Multiple submitters
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Pro438Ser Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Pro453Ala Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Pro48Ser Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Pro69Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Pro949Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Pro958Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Ser1265Ile Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Ser141Gly Uncertain significance Multiple submitters
intellectual disability
AHDC1 p.Ser608Gly Uncertain significance Multiple submitters
AHDC1 p.Thr1052Met Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Thr1157Ser Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Thr1597Ala Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Thr234Ala Uncertain significance Multiple submitters
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Thr34Asn Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Tyr1002Cys Uncertain significance Multiple submitters
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Tyr1260His Uncertain significance Multiple submitters
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Val446Ile Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Val574Leu Uncertain significance Multiple submitters
AHDC1 p.Val734Met Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Ala1015Thr Uncertain significance Single submitter
AHDC1 p.Ala1015Val Uncertain significance Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Ala1035Ser Uncertain significance Single submitter
AHDC1 p.Ala1044Ser Uncertain significance Single submitter
AHDC1 p.Ala1044Val Uncertain significance Single submitter
AHDC1 p.Ala1082Val Uncertain significance Single submitter
AHDC1 p.Ala1185Val Uncertain significance Single submitter
AHDC1 p.Ala1189Val Uncertain significance Single submitter
AHDC1 p.Ala1256Thr Uncertain significance Single submitter
AHDC1 p.Ala1256Val Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Ala1279Thr Uncertain significance Single submitter
AHDC1 p.Ala1282Val Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Ala1290Val Uncertain significance Single submitter
AHDC1 p.Ala1293Gly Uncertain significance Single submitter
AHDC1 p.Ala1372Ser Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Ala1384Val Uncertain significance Single submitter
AHDC1 p.Ala1420Gly Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Ala1432Asp Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Ala1438Val Uncertain significance Single submitter
AHDC1 p.Ala1439Glu Uncertain significance Single submitter
AHDC1 p.Ala1439Val Uncertain significance Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Ala1502Val Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Ala1532Val Uncertain significance Single submitter
AHDC1 p.Ala221Val Uncertain significance Single submitter
AHDC1 p.Ala304Gly Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Ala313Gly Uncertain significance Single submitter
AHDC1 p.Ala407Thr Uncertain significance Single submitter
AHDC1 p.Ala439Thr Uncertain significance Single submitter
AHDC1 p.Ala56Val Uncertain significance Single submitter
AHDC1 p.Ala571Thr Uncertain significance Single submitter
AHDC1 p.Ala602Thr Uncertain significance Single submitter
AHDC1 p.Ala602Val Uncertain significance Single submitter
AHDC1 p.Ala629Pro Uncertain significance Single submitter
AHDC1 p.Ala733Thr Uncertain significance Single submitter
AHDC1 p.Ala766Val Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Ala787Val Uncertain significance Single submitter
AHDC1 p.Ala798Thr Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Ala800Thr Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Ala810Val Uncertain significance Single submitter
AHDC1 p.Ala859Thr Uncertain significance Single submitter
AHDC1 p.Ala859Val Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Ala878Val Uncertain significance Single submitter
AHDC1 p.Ala927Pro Uncertain significance Single submitter
AHDC1 p.Ala927Thr Uncertain significance Single submitter
AHDC1 p.Ala941Ser Uncertain significance Single submitter
AHDC1 p.Ala964Pro Uncertain significance Single submitter
AHDC1 p.Ala993Thr Uncertain significance Single submitter
AHDC1 p.Arg1055Cys Uncertain significance Single submitter
AHDC1 p.Arg1055His Uncertain significance Single submitter
AHDC1 p.Arg108Gly Uncertain significance Single submitter
AHDC1 p.Arg109Cys Uncertain significance Single submitter
AHDC1 p.Arg1111Gln Uncertain significance Single submitter
AHDC1 p.Arg115Trp Uncertain significance Single submitter
AHDC1 p.Arg1183Trp Uncertain significance Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Arg1286Gln Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Arg1338Gln Uncertain significance Single submitter
AHDC1 p.Arg133His Uncertain significance Single submitter
AHDC1 p.Arg133Leu Uncertain significance Single submitter
AHDC1 p.Arg1413Gln Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Arg1529Gly Uncertain significance Single submitter
AHDC1 p.Arg154Cys Uncertain significance Single submitter
AHDC1 p.Arg183Trp Uncertain significance Single submitter
AHDC1 p.Arg281Cys Uncertain significance Single submitter
AHDC1 p.Arg281Gly Uncertain significance Single submitter
AHDC1 p.Arg281His Uncertain significance Single submitter
AHDC1 p.Arg346Cys Uncertain significance Single submitter
AHDC1 p.Arg364Leu Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Arg36Trp Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Arg395His Uncertain significance Single submitter
AHDC1 p.Arg403Cys Uncertain significance Single submitter

Predictors split 160

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 160

AHDC1 p.Arg1235Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Arg1236Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Arg2His Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Arg395Cys Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Arg678Trp Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Asp1169Asn Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Gly1066Val Likely benign Multiple submitters
Inborn genetic diseases
AHDC1 p.Gly400Arg Uncertain significance Multiple submitters
AHDC1 p.Gly977Arg Likely benign Multiple submitters
Inborn genetic diseases
AHDC1 p.Met1206Val Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Met1521Thr Uncertain significance Multiple submitters
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Phe167Cys Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Ser1080Phe Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Ser1191Asn Benign/Likely benign Multiple submitters
Inborn genetic diseases
AHDC1 p.Ser1348Phe Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Ser1555Leu Benign/Likely benign Multiple submitters
Inborn genetic diseases
AHDC1 p.Ser596Phe Uncertain significance Multiple submitters
Inborn genetic diseases
AHDC1 p.Tyr1347His Uncertain significance Multiple submitters
AHDC1 p.Ala617Thr Conflicting Single submitter
AHDC1-related disorder
AHDC1 p.Arg1100Trp Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Arg1111Trp Uncertain significance Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Arg1183Gly Likely benign Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Arg1184Leu Likely benign Single submitter
AHDC1 p.Arg1235Trp Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Arg1264Trp Conflicting Single submitter
AHDC1 p.Arg1286Trp Uncertain significance Single submitter
AHDC1 p.Arg1447Trp Conflicting Single submitter
AHDC1 p.Arg385Gln Likely benign Single submitter
AHDC1 p.Arg386Ser Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Arg389Gly Uncertain significance Single submitter
AHDC1 p.Arg396Trp Likely benign Single submitter
AHDC1 p.Arg401Trp Uncertain significance Single submitter
AHDC1 p.Arg487Gln Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Arg487Trp Uncertain significance Single submitter
AHDC1 p.Arg528Gln Uncertain significance Single submitter
AHDC1 p.Arg587Gln Uncertain significance Single submitter
AHDC1 p.Arg588Trp Uncertain significance Single submitter
AHDC1 p.Arg589Gln Conflicting Single submitter
Inborn genetic diseases
AHDC1 p.Arg590Trp Likely benign Single submitter
AHDC1 p.Arg624Leu Uncertain significance Single submitter
AHDC1 p.Arg661Cys Uncertain significance Single submitter
AHDC1 p.Arg666Gly Uncertain significance Single submitter
AHDC1 p.Arg667Gln Uncertain significance Single submitter
AHDC1 p.Arg724His Uncertain significance Single submitter
AHDC1 p.Arg726Gln Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Arg740Cys Uncertain significance Single submitter
AHDC1 p.Arg743Gln Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Arg743Trp Likely benign Single submitter
obesity disorder
AHDC1 p.Arg745Gln Uncertain significance Single submitter
AHDC1 p.Arg745Trp Uncertain significance Single submitter
AHDC1 p.Arg841Cys Uncertain significance Single submitter
AHDC1 p.Arg918Ser Likely benign Single submitter
AHDC1 p.Asn489Lys Uncertain significance Single submitter
AHDC1 p.Asn606Lys Uncertain significance Single submitter
AHDC1 p.Asn747Ser Uncertain significance Single submitter
AHDC1 p.Asp137Val Uncertain significance Single submitter
AHDC1 p.Asp1457Gly Conflicting Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Asp1457Tyr Uncertain significance Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Asp330Val Uncertain significance Single submitter
AHDC1 p.Asp848Glu Uncertain significance Single submitter
AHDC1 p.Asp851Asn Uncertain significance Single submitter
AHDC1 p.Asp851Gly Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Asp854Glu Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Asp997Glu Likely benign Single submitter
AHDC1 p.Asp997Val Uncertain significance Single submitter
AHDC1 p.Cys1056Tyr Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Cys1134Arg Uncertain significance Single submitter
AHDC1 p.Cys147Tyr Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Cys394Arg Uncertain significance Single submitter
AHDC1 p.Cys791Trp Uncertain significance Single submitter
AHDC1 p.Cys998Ser Uncertain significance Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Gln1151Arg Uncertain significance Single submitter
AHDC1 p.Glu1097Lys Uncertain significance Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Glu1210Lys Conflicting Single submitter
AHDC1 p.Glu1243Lys Uncertain significance Single submitter
AHDC1 p.Glu1423Lys Likely benign Single submitter
AHDC1 p.Glu696Gln Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Glu730Lys Uncertain significance Single submitter
AHDC1 p.Gly1216Val Uncertain significance Single submitter
AHDC1 p.Gly1274Arg Uncertain significance Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Gly1274Glu Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Gly1319Arg Likely benign Single submitter
AHDC1 p.Gly1431Arg Uncertain significance Single submitter
AHDC1 p.Gly681Asp Uncertain significance Single submitter
AHDC1 p.Gly792Arg Uncertain significance Single submitter
AHDC1-related disorder
AHDC1 p.Gly838Ser Likely pathogenic Single submitter
AHDC1 p.Gly869Asp Likely benign Single submitter
AHDC1 p.Gly884Arg Uncertain significance Single submitter
AHDC1 p.Ile244Met Uncertain significance Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Ile392Thr Uncertain significance Single submitter
AHDC1 p.Ile542Val Uncertain significance Single submitter
AHDC1 p.Leu1247Arg Uncertain significance Single submitter
AHDC1 p.Leu341His Likely benign Single submitter
AHDC1 p.Leu853Ser Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Lys1238Asn Uncertain significance Single submitter
AHDC1 p.Lys1284Asn Uncertain significance Single submitter
AHDC1 p.Lys1378Asn Uncertain significance Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Lys1409Thr Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Lys1516Glu Uncertain significance Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Lys404Glu Uncertain significance Single submitter
AHDC1 p.Lys465Asn Uncertain significance Single submitter
AHDC1 p.Lys946Thr Uncertain significance Single submitter
AHDC1 p.Met1205Thr Uncertain significance Single submitter
AHDC1 p.Met1206Thr Conflicting Single submitter
AHDC1 p.Phe1000Leu Uncertain significance Single submitter
AHDC1 p.Phe1037Leu Uncertain significance Single submitter
AHDC1 p.Phe1110Ser Uncertain significance Single submitter
AHDC1 p.Phe1343Leu Likely benign Single submitter
AHDC1 p.Phe1363Leu Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Phe282Leu Uncertain significance Single submitter
AHDC1 p.Phe658Cys Uncertain significance Single submitter
AHDC1 p.Phe665Leu Uncertain significance Single submitter
AHDC1 p.Phe694Leu Likely benign Single submitter
AHDC1 p.Phe921Ser Uncertain significance Single submitter
AHDC1 p.Pro1215Ser Uncertain significance Single submitter
AHDC1 p.Pro1346Thr Uncertain significance Single submitter
AHDC1 p.Pro1459Arg Uncertain significance Single submitter
AHDC1 p.Pro25Thr Uncertain significance Single submitter
AHDC1 p.Pro336His Conflicting Single submitter
AHDC1 p.Pro435Thr Uncertain significance Single submitter
AHDC1 p.Pro437His Uncertain significance Single submitter
AHDC1 p.Pro536Thr Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Pro5Leu Uncertain significance Single submitter
AHDC1 p.Pro643Leu Uncertain significance Single submitter
AHDC1 p.Ser1004Arg Uncertain significance Single submitter
AHDC1 p.Ser1064Leu Uncertain significance Single submitter
AHDC1 p.Ser1187Arg Likely benign Single submitter
AHDC1 p.Ser1192Ile Uncertain significance Single submitter
AHDC1 p.Ser1196Leu Uncertain significance Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Ser1330Trp Uncertain significance Single submitter
AHDC1 p.Ser1348Cys Likely benign Single submitter
AHDC1 p.Ser1403Leu Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Ser1433Arg Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Ser1445Arg Likely benign Single submitter
AHDC1 p.Ser1549Tyr Uncertain significance Single submitter
AHDC1 p.Ser166Arg Uncertain significance Single submitter
AHDC1 p.Ser172Arg Uncertain significance Single submitter
AHDC1 p.Ser503Arg Uncertain significance Single submitter
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1 p.Ser692Gly Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Ser928Arg Uncertain significance Single submitter
AHDC1 p.Ser979Arg Uncertain significance Single submitter
AHDC1 p.Ser999Arg Uncertain significance Single submitter
AHDC1 p.Thr1358Ile Uncertain significance Single submitter
AHDC1 p.Thr1597Arg Uncertain significance Single submitter
AHDC1 p.Thr1601Ile Uncertain significance Single submitter
AHDC1 p.Tyr1114His Uncertain significance Single submitter
Inborn genetic diseases
AHDC1 p.Tyr1217Cys Uncertain significance Single submitter
AHDC1 p.Tyr1317Cys Uncertain significance Single submitter
AHDC1 p.Tyr1456His Uncertain significance Single submitter
AHDC1 p.Tyr817Asp Uncertain significance Single submitter

All AHDC1 variants

Pathogenic 128

p.Arg1272Ter Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg587fs Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg587Ter Multiple submitters AHDC1-related disorder
p.Arg688Ter Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg789Ter Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Cys791fs Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gln332Ter Multiple submitters AHDC1-related disorder
p.Gln990Ter Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Glu730Ter Multiple submitters Inborn genetic diseases
p.Lys494fs Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Phe1182fs Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser850fs Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala1021fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala1050fs Single submitter
p.Ala1253fs Single submitter Neurodevelopmental delay
p.Ala1514fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala316fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala649fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala899fs Single submitter
p.Ala905fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala907fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg1338Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg385fs Single submitter
p.Arg403fs Single submitter
p.Arg631fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg636fs Single submitter intellectual disability
p.Asn834fs Single submitter
p.Asp604fs Single submitter
p.Asp845fs Single submitter
p.Cys394fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Cys468fs Single submitter Cerebral visual impairment and intellectual disability
p.Cys632fs Single submitter
p.Cys637fs Single submitter Inborn genetic diseases
p.Gln1126Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gln1156Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gln1270fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gln1329Ter Single submitter
p.Gln279Ter Single submitter
p.Gln327Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gln598Ter Single submitter
p.Gln627fs Single submitter
p.Gln648Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gln653fs Single submitter
p.Gln882Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gln919fs Single submitter
p.Gln970Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Glu1161fs Single submitter
p.Glu270fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Glu410Ter Single submitter
p.Gly1481fs Single submitter
p.Gly211fs Single submitter
p.Gly470fs Single submitter
p.Gly773fs Single submitter AHDC1-related disorder
p.Gly784fs Single submitter AHDC1-related disorder
p.Gly792fs Single submitter
p.Gly884fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.His961fs Single submitter
p.Leu300fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Leu498Ter Single submitter
p.Lys1516fs Single submitter Inborn genetic diseases
p.Lys507Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Lys552fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Lys585fs Single submitter
p.Lys702fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Lys985fs Single submitter
p.Phe1046fs Single submitter
p.Phe1585fs Single submitter
p.Pro1022fs Single submitter
p.Pro1477fs Single submitter
p.Pro208fs Single submitter
p.Pro376fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Pro430fs Single submitter
p.Pro431fs Single submitter
p.Pro449fs Single submitter
p.Pro597fs Single submitter
p.Pro634fs Single submitter
p.Pro86fs Single submitter
p.Pro983fs Single submitter
p.Ser1011Ter Single submitter Inborn genetic diseases
p.Ser1013fs Single submitter
p.Ser1061fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser1106fs Single submitter
p.Ser1258Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser1330Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser744fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser757fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser811Ter Single submitter neurodevelopmental disorder
p.Ser877fs Single submitter
p.Ser890fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser916fs Single submitter
p.Thr1062fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Thr1485fs Single submitter
p.Thr1495fs Single submitter
p.Thr518fs Single submitter Inborn genetic diseases
p.Thr984fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Trp1108Ter Single submitter
p.Trp1208Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Trp1219Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Trp776fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Trp776Ter Single submitter
p.Tyr1002Ter Single submitter Inborn genetic diseases
p.Tyr1068Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Tyr1564Ter Single submitter
p.Tyr871Ter Single submitter
p.Tyr967fs Single submitter Delayed speech and language development
p.Val1159fs Single submitter Inborn genetic diseases
p.Val532fs Single submitter
p.Val705fs Single submitter
p.Val731fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Val898fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala184fs No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala605fs No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg1475fs No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gln262Ter No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gln825Ter No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gln978Ter No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Glu1480fs No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gly676fs No assertion criteria
p.Gly677fs No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gly679fs No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gly809fs No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Leu806fs No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Pro950fs No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser1166Ter No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser215fs No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser484fs No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Tyr1128Ter No assertion criteria intellectual disability
p.Val483fs No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Pathogenic/Likely pathogenic 6

p.Arg151Ter Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg925Ter Multiple submitters abdominal obesity-metabolic syndrome 3
p.Glu730fs Multiple submitters AHDC1-related disorder
p.Met478fs Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Trp638Ter Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala333fs No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Likely pathogenic 49

p.Ala1432fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala859fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg108Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg389fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg545fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg668fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg841fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg925fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Asp366fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Cys1056_Asp1057delinsTer Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gln1101Ter Single submitter
p.Gln1151Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gln1300Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gln794Ter Single submitter
p.Glu293Ter Single submitter
p.Glu361fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Glu516Ter Single submitter
p.Glu570fs Single submitter
p.Glu611fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gly1463fs Single submitter
p.Gly311fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gly838Ser Single submitter ⚠
p.Leu1127fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Leu173fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Leu337fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Lys1482fs Single submitter
p.Lys381fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Lys586fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Lys671fs Single submitter AHDC1-related disorder
p.Phe675fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Phe855fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Pro1009Ala Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Pro1024fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Pro1304Arg Single submitter Neurodevelopmental delay ⚠
p.Pro1469fs Single submitter AHDC1-related disorder
p.Pro390fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Pro459fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Pro723fs Single submitter
p.Ser1091fs Single submitter AHDC1-related disorder
p.Ser829fs Single submitter
p.Tyr1114Ter Single submitter AHDC1-related disorder
p.Tyr1468Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Tyr817Ter Single submitter intellectual disability
p.Tyr839Ser Single submitter ⚠
p.Val704fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Val900fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gly1027fs No assertion criteria intellectual disability
p.Gly548Ser No assertion criteria AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Val707fs No assertion criteria AHDC1-related disorder

Conflicting classifications of pathogenicity 102

p.Ala1001Thr Single submitter ⚠
p.Ala1018Thr Single submitter AHDC1-related disorder ⚠
p.Ala1085Val Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Ala1473Val Single submitter ⚠
p.Ala1563Thr Single submitter Inborn genetic diseases ⚠
p.Ala1573Val Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Ala263Thr Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Ala383Thr Single submitter Inborn genetic diseases ⚠
p.Ala56Thr Single submitter Inborn genetic diseases ⚠
p.Ala617Thr Single submitter AHDC1-related disorder ⚠
p.Ala629Thr Single submitter ⚠
p.Ala907Val Single submitter Inborn genetic diseases ⚠
p.Ala917Thr Single submitter Inborn genetic diseases ⚠
p.Arg1100Gln Single submitter Inborn genetic diseases ⚠
p.Arg1100Trp Single submitter Inborn genetic diseases ⚠
p.Arg115Gln Single submitter Inborn genetic diseases ⚠
p.Arg1184His Single submitter Inborn genetic diseases ⚠
p.Arg1264Trp Single submitter ⚠
p.Arg1447Trp Single submitter ⚠
p.Arg1523Trp Single submitter Inborn genetic diseases ⚠
p.Arg154His Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Arg192Gln Single submitter Inborn genetic diseases ⚠
p.Arg192Trp Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Arg346His Single submitter Inborn genetic diseases ⚠
p.Arg386His Single submitter Inborn genetic diseases ⚠
p.Arg386Ser Single submitter Inborn genetic diseases ⚠
p.Arg412Cys Single submitter Inborn genetic diseases ⚠
p.Arg589Gln Single submitter Inborn genetic diseases ⚠
p.Arg728Gln Single submitter Inborn genetic diseases ⚠
p.Arg728Trp Single submitter ⚠
p.Arg73His Single submitter Inborn genetic diseases ⚠
p.Arg813His Single submitter Inborn genetic diseases ⚠
p.Arg832His Single submitter ⚠
p.Arg865Gln Single submitter ⚠
p.Arg87Gln Single submitter ⚠
p.Arg956Cys Single submitter ⚠
p.Asp1457Gly Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Asp1515Asn Single submitter Inborn genetic diseases ⚠
p.Asp20Asn Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Asp232= Single submitter
p.Asp232Gly Single submitter Inborn genetic diseases ⚠
p.Asp335Glu Single submitter Inborn genetic diseases ⚠
p.Gln279Glu Single submitter ⚠
p.Glu1210Lys Single submitter ⚠
p.Glu203Gln Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Glu203Lys Single submitter Inborn genetic diseases ⚠
p.Glu270Lys Single submitter Inborn genetic diseases ⚠
p.Glu59Lys Single submitter ⚠
p.Gly1026Arg Single submitter Inborn genetic diseases ⚠
p.Gly102Arg Single submitter Inborn genetic diseases ⚠
p.Gly1181Val Single submitter Inborn genetic diseases ⚠
p.Gly1277Ser Single submitter Inborn genetic diseases ⚠
p.Gly1393Ser Single submitter ⚠
p.Gly224Val Single submitter ⚠
p.Gly292Arg Single submitter ⚠
p.Gly31Ser Single submitter ⚠
p.Gly375fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Gly711Glu Single submitter Inborn genetic diseases ⚠
p.Gly714Ala Single submitter Inborn genetic diseases ⚠
p.Gly788Val Single submitter Inborn genetic diseases ⚠
p.His1427Arg Single submitter Inborn genetic diseases ⚠
p.His214Tyr Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Ile1344Thr Single submitter ⚠
p.Leu291Phe Single submitter Inborn genetic diseases ⚠
p.Leu340Pro Single submitter ⚠
p.Leu422Gln Single submitter Inborn genetic diseases ⚠
p.Lys391Arg Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Lys725Arg Single submitter Inborn genetic diseases ⚠
p.Lys739Arg Single submitter Inborn genetic diseases ⚠
p.Lys772Arg Single submitter Inborn genetic diseases ⚠
p.Met1206Thr Single submitter ⚠
p.Met1349Val Single submitter Inborn genetic diseases ⚠
p.Phe1038del Single submitter
p.Phe1182Val Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Pro1373Ala Single submitter Inborn genetic diseases ⚠
p.Pro1450Leu Single submitter Inborn genetic diseases ⚠
p.Pro1528Leu Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Pro271Ser Single submitter Inborn genetic diseases ⚠
p.Pro29Thr Single submitter Inborn genetic diseases ⚠
p.Pro336His Single submitter ⚠
p.Pro336Leu Single submitter ⚠
p.Pro370Leu Single submitter Inborn genetic diseases ⚠
p.Pro430Thr Single submitter Inborn genetic diseases ⚠
p.Pro445Leu Single submitter Inborn genetic diseases ⚠
p.Pro453Leu Single submitter Inborn genetic diseases ⚠
p.Pro47Ala Single submitter Inborn genetic diseases ⚠
p.Pro922Leu Single submitter Inborn genetic diseases ⚠
p.Ser1033Asn Single submitter ⚠
p.Ser1091_Phe1092insSerSerSer Single submitter
p.Ser1091del Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser1095Leu Single submitter Inborn genetic diseases ⚠
p.Ser233Asn Single submitter Inborn genetic diseases ⚠
p.Ser268Leu Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Thr219Met Single submitter Inborn genetic diseases ⚠
p.Thr34Pro Single submitter ⚠
p.Thr819Met Single submitter Inborn genetic diseases ⚠
p.Tyr1020Cys Single submitter Inborn genetic diseases ⚠
p.Val483Leu Single submitter Inborn genetic diseases ⚠
p.Val513Met Single submitter Inborn genetic diseases ⚠
p.Val662Leu Single submitter Inborn genetic diseases ⚠
p.Val707Met Single submitter Inborn genetic diseases ⚠
p.Val980Ile Single submitter Inborn genetic diseases ⚠

Benign 41

p.Ala1021= Multiple submitters
p.Ala157Val Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala935Thr Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg403= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg42Gln Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Asp614= Multiple submitters
p.Gly161= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gly470= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Leu328= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Leu844= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Pro1150= Multiple submitters
p.Pro155= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Pro278Ser Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Pro540= Multiple submitters
p.Pro715= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser1036del Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser1088= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Thr219= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
c.-74-244G>A Single submitter
p.Ala1035Thr Single submitter
p.Ala1289Thr Single submitter
p.Ala941= Single submitter
p.Arg108Gln Single submitter
p.Arg36Pro Single submitter
p.Gln257= Single submitter
p.Gly30Ser Single submitter
p.Gly674Ser Single submitter
p.Gly972Ser Single submitter
p.His1379Tyr Single submitter
p.Leu365= Single submitter
p.Lys1513= Single submitter
p.Pro299= Single submitter
p.Pro83Leu Single submitter
p.Ser1507Asn Single submitter
p.Ser215Arg Single submitter
p.Ser808Gly Single submitter
p.Ser850= Single submitter
p.Thr1025Ala Single submitter
p.Thr458= Single submitter
p.Tyr198= Single submitter
p.Val712= Single submitter

Benign/Likely benign 58

p.Ala1018= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala1103Val Multiple submitters Inborn genetic diseases
p.Ala1123Thr Multiple submitters Inborn genetic diseases
p.Ala1498Thr Multiple submitters Inborn genetic diseases
p.Ala1535Thr Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala242= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala261Val Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala733Ser Multiple submitters
p.Ala787Thr Multiple submitters Inborn genetic diseases
p.Ala878= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg1529Cys Multiple submitters Inborn genetic diseases
p.Arg23Gln Multiple submitters Inborn genetic diseases
p.Arg412His Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg512= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Arg96Cys Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Cys1341Gly Multiple submitters Inborn genetic diseases
p.Cys992= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Glu1210Asp Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Glu1285Asp Multiple submitters
p.Gly1019Ser Multiple submitters Inborn genetic diseases
p.Gly1334Ser Multiple submitters Inborn genetic diseases
p.Gly1393Asp Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gly442= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.His1443Gln Multiple submitters Inborn genetic diseases
p.His187= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Leu163= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Leu915= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Lys1418= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Lys1462Gln Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Phe981= Multiple submitters
p.Pro1400= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Pro1594= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Pro193Ser Multiple submitters Inborn genetic diseases
p.Pro269= Multiple submitters
p.Pro271Ala Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Pro358Ser Multiple submitters Inborn genetic diseases
p.Pro482= Multiple submitters
p.Pro536= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Pro75= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Pro83Arg Multiple submitters
p.Pro909Arg Multiple submitters Inborn genetic diseases
p.Pro950= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser1004Asn Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser1080= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser1091dup Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ser1191Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser1555Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser846= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Thr1079_Ala1081del Multiple submitters Inborn genetic diseases
p.Thr1511= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Thr1599= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Thr71Ile Multiple submitters Inborn genetic diseases
p.Thr943Pro Multiple submitters Inborn genetic diseases
p.Tyr1456= Multiple submitters
p.Tyr382= Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Val471Met Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Val483Ile Multiple submitters Inborn genetic diseases
p.Val504Met Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Likely benign 469

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

c.-74-133T>G Multiple submitters
p.Ala1084= Multiple submitters
p.Ala1084Thr Multiple submitters Inborn genetic diseases
p.Ala1497= Multiple submitters Inborn genetic diseases
p.Ala360= Multiple submitters
p.Ala427= Multiple submitters
p.Ala568= Multiple submitters
p.Ala568Val Multiple submitters Inborn genetic diseases
p.Ala569= Multiple submitters
p.Ala575= Multiple submitters
p.Ala576= Multiple submitters
p.Ala672Thr Multiple submitters Inborn genetic diseases
p.Ala706= Multiple submitters
p.Ala769= Multiple submitters
p.Ala95= Multiple submitters
p.Ala976= Multiple submitters
p.Arg1523Gln Multiple submitters Inborn genetic diseases
p.Arg364Cys Multiple submitters Inborn genetic diseases
p.Arg403His Multiple submitters
p.Arg487= Multiple submitters
p.Arg688Gln Multiple submitters Inborn genetic diseases
p.Arg813Cys Multiple submitters
p.Arg96His Multiple submitters Inborn genetic diseases
p.Asn1140= Multiple submitters
p.Asn1350= Multiple submitters
p.Asp851= Multiple submitters
p.Asp854= Multiple submitters
p.Asp991= Multiple submitters
p.Cys1422= Multiple submitters
p.Cys1499= Multiple submitters
p.Gln123His Multiple submitters
p.Glu1202= Multiple submitters
p.Glu272= Multiple submitters
p.Glu730Ala Multiple submitters
p.Gly1066Ser Multiple submitters
p.Gly1066Val Multiple submitters Inborn genetic diseases ⚠
p.Gly1181= Multiple submitters
p.Gly1334= Multiple submitters
p.Gly1393= Multiple submitters
p.Gly161Ser Multiple submitters Inborn genetic diseases
p.Gly211= Multiple submitters
p.Gly30= Multiple submitters
p.Gly372Ser Multiple submitters Inborn genetic diseases
p.Gly375Arg Multiple submitters
p.Gly559Ser Multiple submitters
p.Gly673= Multiple submitters
p.Gly904Arg Multiple submitters Inborn genetic diseases
p.Gly977Arg Multiple submitters Inborn genetic diseases ⚠
p.His779Gln Multiple submitters Inborn genetic diseases
p.Leu1406= Multiple submitters
p.Lys702= Multiple submitters
p.Pro100= Multiple submitters
p.Pro1023Leu Multiple submitters Inborn genetic diseases
p.Pro1096= Multiple submitters
p.Pro1109Leu Multiple submitters intellectual disability
p.Pro1261= Multiple submitters
p.Pro1271= Multiple submitters
p.Pro1373= Multiple submitters
p.Pro1382= Multiple submitters
p.Pro1477Ser Multiple submitters Inborn genetic diseases
p.Pro1552Leu Multiple submitters Inborn genetic diseases
p.Pro271Leu Multiple submitters Inborn genetic diseases
p.Pro29= Multiple submitters
p.Pro310= Multiple submitters
p.Pro445= Multiple submitters
p.Pro83= Multiple submitters
p.Pro962= Multiple submitters
p.Pro962Leu Multiple submitters
p.Ser1090_Ser1091del Multiple submitters
p.Ser1262= Multiple submitters
p.Ser1318= Multiple submitters
p.Ser58= Multiple submitters
p.Ser744= Multiple submitters
p.Ser842= Multiple submitters Inborn genetic diseases
p.Ser903= Multiple submitters
p.Ser916= Multiple submitters
p.Thr185= Multiple submitters
p.Thr639= Multiple submitters
p.Thr943Ile Multiple submitters Inborn genetic diseases
p.Tyr28= Multiple submitters
p.Tyr612= Multiple submitters
p.Val101= Multiple submitters
p.Val1239= Multiple submitters
p.Val1335Met Multiple submitters Inborn genetic diseases
p.Val495= Multiple submitters
p.Val980= Multiple submitters
c.-24C>T Single submitter
p.Ala1044= Single submitter
p.Ala1082= Single submitter
p.Ala1103= Single submitter
p.Ala1105= Single submitter
p.Ala1120= Single submitter
p.Ala1214= Single submitter
p.Ala1244= Single submitter
p.Ala1255= Single submitter
p.Ala1256= Single submitter
p.Ala1290= Single submitter
p.Ala1392= Single submitter
p.Ala14= Single submitter
p.Ala1421= Single submitter
p.Ala1498= Single submitter
p.Ala1573Ser Single submitter
p.Ala1590= Single submitter
p.Ala1590Val Single submitter
p.Ala188= Single submitter
p.Ala221= Single submitter
p.Ala222= Single submitter
p.Ala263Pro Single submitter
p.Ala304= Single submitter
p.Ala333= Single submitter
p.Ala407= Single submitter
p.Ala683= Single submitter
p.Ala687= Single submitter
p.Ala709= Single submitter
p.Ala710= Single submitter
p.Ala764= Single submitter
p.Ala802Ser Single submitter Inborn genetic diseases
p.Ala821= Single submitter
p.Ala821Thr Single submitter Inborn genetic diseases
p.Ala856= Single submitter
p.Ala856Val Single submitter
p.Ala886= Single submitter
p.Ala907= Single submitter
p.Ala917= Single submitter
p.Ala926= Single submitter
p.Ala953= Single submitter
p.Ala964= Single submitter
p.Ala982Thr Single submitter
p.Arg1055= Single submitter
p.Arg1059= Single submitter
p.Arg108= Single submitter
p.Arg1183Gly Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Arg1184Leu Single submitter ⚠
p.Arg1272= Single submitter
p.Arg1475Cys Single submitter
p.Arg1523= Single submitter
p.Arg192= Single submitter
p.Arg347Cys Single submitter
p.Arg36= Single submitter
p.Arg385Gln Single submitter ⚠
p.Arg396Gln Single submitter
p.Arg396Trp Single submitter ⚠
p.Arg397Gln Single submitter
p.Arg412Leu Single submitter
p.Arg42Trp Single submitter
p.Arg547= Single submitter
p.Arg590del Single submitter
p.Arg590Trp Single submitter ⚠
p.Arg62= Single submitter
p.Arg624His Single submitter
p.Arg661His Single submitter
p.Arg72= Single submitter
p.Arg743Trp Single submitter obesity disorder ⚠
p.Arg745= Single submitter
p.Arg799= Single submitter
p.Arg832Cys Single submitter Inborn genetic diseases
p.Arg87= Single submitter
p.Arg891Trp Single submitter
p.Arg918Ser Single submitter ⚠
p.Arg925= Single submitter
p.Arg925Gln Single submitter
p.Arg956His Single submitter
p.Arg96= Single submitter
p.Asn113= Single submitter
p.Asn113Tyr Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Asn1209= Single submitter
p.Asn529= Single submitter
p.Asn60= Single submitter
p.Asn606= Single submitter
p.Asn747= Single submitter
p.Asp1144= Single submitter
p.Asp1169= Single submitter
p.Asp1391= Single submitter
p.Asp1596= Single submitter
p.Asp241= Single submitter
p.Asp318Gly Single submitter
p.Asp322Val Single submitter
p.Asp342= Single submitter
p.Asp342Glu Single submitter
p.Asp604= Single submitter
p.Asp651Asn Single submitter
p.Asp997Glu Single submitter ⚠
p.Cys1365= Single submitter
p.Cys1402= Single submitter
p.Cys357= Single submitter
p.Gln1126= Single submitter
p.Gln1329= Single submitter
p.Gln139= Single submitter
p.Gln598= Single submitter
p.Gln653= Single submitter
p.Gln794Arg Single submitter
p.Gln825= Single submitter
p.Glu1161= Single submitter
p.Glu1193= Single submitter
p.Glu1423Lys Single submitter ⚠
p.Glu1591= Single submitter
p.Glu199= Single submitter
p.Glu270= Single submitter
p.Glu508= Single submitter
p.Glu583= Single submitter
p.Glu642= Single submitter
p.Glu767= Single submitter
p.Glu831= Single submitter
p.Gly1048Ser Single submitter
p.Gly114Arg Single submitter
p.Gly1179= Single submitter
p.Gly1179Val Single submitter
p.Gly1180Arg Single submitter
p.Gly1248= Single submitter
p.Gly1267= Single submitter
p.Gly1288= Single submitter
p.Gly1319Arg Single submitter ⚠
p.Gly1362= Single submitter
p.Gly1407= Single submitter
p.Gly1431= Single submitter
p.Gly1452= Single submitter
p.Gly1584= Single submitter
p.Gly1587= Single submitter
p.Gly308Arg Single submitter
p.Gly31= Single submitter
p.Gly345= Single submitter
p.Gly408= Single submitter
p.Gly486= Single submitter
p.Gly557= Single submitter
p.Gly677= Single submitter
p.Gly679= Single submitter
p.Gly714= Single submitter
p.Gly716= Single submitter
p.Gly729= Single submitter
p.Gly762= Single submitter
p.Gly762Glu Single submitter
p.Gly770Arg Single submitter Inborn genetic diseases
p.Gly784= Single submitter
p.Gly788= Single submitter
p.Gly805= Single submitter
p.Gly820Val Single submitter
p.Gly869Asp Single submitter ⚠
p.Gly924= Single submitter
p.Gly930= Single submitter
p.Gly972= Single submitter
p.Gly977Val Single submitter
p.Gly989= Single submitter
p.His1135= Single submitter
p.His140= Single submitter
p.His1427= Single submitter
p.His1436= Single submitter
p.His1504= Single submitter
p.His371= Single submitter
p.Ile392= Single submitter
p.Ile481= Single submitter
p.Ile698= Single submitter
p.Leu1008= Single submitter
p.Leu1030= Single submitter
p.Leu1127= Single submitter
p.Leu1127Ile Single submitter
p.Leu1143= Single submitter
p.Leu1204= Single submitter
p.Leu1247= Single submitter
p.Leu1312= Single submitter
p.Leu1314= Single submitter
p.Leu138= Single submitter
p.Leu1419= Single submitter
p.Leu1492= Single submitter
p.Leu1548= Single submitter
p.Leu225= Single submitter
p.Leu291= Single submitter
p.Leu317= Single submitter
p.Leu324= Single submitter
p.Leu334= Single submitter
p.Leu337= Single submitter
p.Leu340= Single submitter
p.Leu341His Single submitter ⚠
p.Leu359Val Single submitter
p.Leu363= Single submitter
p.Leu363Phe Single submitter
p.Leu413= Single submitter
p.Leu422= Single submitter
p.Leu485= Single submitter
p.Leu555= Single submitter
p.Leu616= Single submitter
p.Leu717Phe Single submitter
p.Leu720Ser Single submitter
p.Leu835= Single submitter
p.Leu931= Single submitter
p.Leu947= Single submitter
p.Lys1263= Single submitter
p.Lys522= Single submitter
p.Lys746= Single submitter
p.Lys866= Single submitter
p.Phe1046= Single submitter
p.Phe1163= Single submitter
p.Phe1242= Single submitter
p.Phe1333= Single submitter
p.Phe1343Leu Single submitter ⚠
p.Phe1408= Single submitter
p.Phe1491= Single submitter
p.Phe167= Single submitter
p.Phe658= Single submitter
p.Phe694Leu Single submitter ⚠
p.Phe751= Single submitter

Uncertain significance 604

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

p.Ala1256Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala1440Thr Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Ala1442Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1498Val Multiple submitters Inborn genetic diseases ⚠
p.Ala242Thr Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Ala576Val Multiple submitters Inborn genetic diseases ⚠
p.Ala605Thr Multiple submitters ⚠
p.Ala683Val Multiple submitters Inborn genetic diseases ⚠
p.Ala710Thr Multiple submitters ⚠
p.Ala777Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala777Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala867Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala88Glu Multiple submitters ⚠
p.Ala905Thr Multiple submitters ⚠
p.Ala917Val Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Arg1235Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1236Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1413Trp Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Arg1447Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1475His Multiple submitters Inborn genetic diseases ⚠
p.Arg1529His Multiple submitters Inborn genetic diseases ⚠
p.Arg2His Multiple submitters Inborn genetic diseases ⚠
p.Arg347His Multiple submitters Inborn genetic diseases ⚠
p.Arg36Gln Multiple submitters ⚠
p.Arg395Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg401Gln Multiple submitters ⚠
p.Arg469Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg678Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg67Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg883Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg891Gln Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Arg90Cys Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Arg918His Multiple submitters Inborn genetic diseases ⚠
p.Asn1006Ser Multiple submitters AHDC1-related disorder ⚠
p.Asp1169Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp1457Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp162Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp20Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp335His Multiple submitters ⚠
p.Cys16Arg Multiple submitters ⚠
p.Gln1155Arg Multiple submitters ⚠
p.Gln1453Lys Multiple submitters ⚠
p.Gln754Arg Multiple submitters ⚠
p.Glu361Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu642Asp Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Glu807Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu827Lys Multiple submitters ⚠
p.Gly104Asp Multiple submitters ⚠
p.Gly1313Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly1481Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly1578Ser Multiple submitters ⚠
p.Gly400Arg Multiple submitters ⚠
p.Gly729Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly781Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly785Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly973Ser Multiple submitters Inborn genetic diseases ⚠
p.His1364Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu1375Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu1556Gln Multiple submitters Inborn genetic diseases ⚠
p.Leu197Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu393Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu828Pro Multiple submitters Inborn genetic diseases ⚠
p.Lys1516Gln Multiple submitters Inborn genetic diseases ⚠
p.Met1206Val Multiple submitters Inborn genetic diseases ⚠
p.Met1521Thr Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Phe167Cys Multiple submitters Inborn genetic diseases ⚠
p.Pro1231Leu Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Pro1382Leu Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Pro1541Ser Multiple submitters Inborn genetic diseases
p.Pro373Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro374Ser Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Pro380Leu Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Pro438Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro453Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro48Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro69Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro949Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro958Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser1080Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser1265Ile Multiple submitters Inborn genetic diseases ⚠
p.Ser1348Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser141Gly Multiple submitters intellectual disability ⚠
p.Ser596Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser608Gly Multiple submitters ⚠
p.Thr1052Met Multiple submitters Inborn genetic diseases ⚠
p.Thr1157Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr1597Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr234Ala Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Thr34Asn Multiple submitters Inborn genetic diseases ⚠
p.Tyr1002Cys Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Tyr1260His Multiple submitters AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Tyr1347His Multiple submitters ⚠
p.Val446Ile Multiple submitters Inborn genetic diseases ⚠
p.Val574Leu Multiple submitters ⚠
p.Val734Met Multiple submitters Inborn genetic diseases ⚠
c.-112-1G>A Single submitter
p.Ala1015Thr Single submitter ⚠
p.Ala1015Val Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Ala1035Ser Single submitter ⚠
p.Ala1044Ser Single submitter ⚠
p.Ala1044Val Single submitter ⚠
p.Ala1076_Ala1078del Single submitter
p.Ala1082Val Single submitter ⚠
p.Ala1185Val Single submitter ⚠
p.Ala1189Val Single submitter ⚠
p.Ala1256Thr Single submitter ⚠
p.Ala1256Val Single submitter Inborn genetic diseases ⚠
p.Ala1279Thr Single submitter ⚠
p.Ala1282_Lys1283insSerSerAla Single submitter
p.Ala1282Val Single submitter Inborn genetic diseases ⚠
p.Ala1290Val Single submitter ⚠
p.Ala1293Gly Single submitter ⚠
p.Ala1372Ser Single submitter Inborn genetic diseases ⚠
p.Ala1384Cys Single submitter
p.Ala1384Val Single submitter ⚠
p.Ala1420Gly Single submitter Inborn genetic diseases ⚠
p.Ala1432Asp Single submitter Inborn genetic diseases ⚠
p.Ala1438Val Single submitter ⚠
p.Ala1439Glu Single submitter ⚠
p.Ala1439Val Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Ala1489del Single submitter
p.Ala1502Val Single submitter Inborn genetic diseases ⚠
p.Ala1532fs Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Ala1532Val Single submitter ⚠
p.Ala220_Thr223del Single submitter
p.Ala221Val Single submitter ⚠
p.Ala304Gly Single submitter Inborn genetic diseases ⚠
p.Ala313Gly Single submitter ⚠
p.Ala407Thr Single submitter ⚠
p.Ala439Thr Single submitter ⚠
p.Ala56Val Single submitter ⚠
p.Ala571Thr Single submitter ⚠
p.Ala572_Thr573insAlaValValAlaAlaGluAlaAla Single submitter
p.Ala575Val Single submitter
p.Ala602Thr Single submitter ⚠
p.Ala602Val Single submitter ⚠
p.Ala629Pro Single submitter ⚠
p.Ala733Thr Single submitter ⚠
p.Ala766Val Single submitter Inborn genetic diseases ⚠
p.Ala787Val Single submitter ⚠
p.Ala798Thr Single submitter Inborn genetic diseases ⚠
p.Ala800Thr Single submitter Inborn genetic diseases ⚠
p.Ala810Val Single submitter ⚠
p.Ala859Thr Single submitter ⚠
p.Ala859Val Single submitter Inborn genetic diseases ⚠
p.Ala878Val Single submitter ⚠
p.Ala927Pro Single submitter ⚠
p.Ala927Thr Single submitter ⚠
p.Ala941Ser Single submitter ⚠
p.Ala964Pro Single submitter ⚠
p.Ala993Thr Single submitter ⚠
p.Arg1055Cys Single submitter ⚠
p.Arg1055His Single submitter ⚠
p.Arg108Gly Single submitter ⚠
p.Arg109Cys Single submitter ⚠
p.Arg1111Gln Single submitter ⚠
p.Arg1111Trp Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Arg115Trp Single submitter ⚠
p.Arg1183Trp Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Arg1235Trp Single submitter Inborn genetic diseases ⚠
p.Arg1286Gln Single submitter Inborn genetic diseases ⚠
p.Arg1286Trp Single submitter ⚠
p.Arg1338Gln Single submitter ⚠
p.Arg133Cys Single submitter Inborn genetic diseases
p.Arg133His Single submitter ⚠
p.Arg133Leu Single submitter ⚠
p.Arg1413Gln Single submitter Inborn genetic diseases ⚠
p.Arg1523fs Single submitter
p.Arg1529Gly Single submitter ⚠
p.Arg154Cys Single submitter ⚠
p.Arg183Trp Single submitter ⚠
p.Arg281Cys Single submitter ⚠
p.Arg281Gly Single submitter ⚠
p.Arg281His Single submitter ⚠
p.Arg346Cys Single submitter ⚠
p.Arg364Leu Single submitter Inborn genetic diseases ⚠
p.Arg36Trp Single submitter Inborn genetic diseases ⚠
p.Arg389Gly Single submitter ⚠
p.Arg395His Single submitter ⚠
p.Arg401Trp Single submitter ⚠
p.Arg403Cys Single submitter ⚠
p.Arg464Cys Single submitter ⚠
p.Arg464His Single submitter ⚠
p.Arg469Trp Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Arg472Trp Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Arg487Gln Single submitter Inborn genetic diseases ⚠
p.Arg487Trp Single submitter ⚠
p.Arg512Cys Single submitter ⚠
p.Arg528Gln Single submitter ⚠
p.Arg545Cys Single submitter ⚠
p.Arg549His Single submitter ⚠
p.Arg587Gln Single submitter ⚠
p.Arg588Trp Single submitter ⚠
p.Arg589Trp Single submitter ⚠
p.Arg624Leu Single submitter ⚠
p.Arg661Cys Single submitter ⚠
p.Arg666Gly Single submitter ⚠
p.Arg667Gln Single submitter ⚠
p.Arg66Cys Single submitter ⚠
p.Arg66His Single submitter ⚠
p.Arg724His Single submitter ⚠
p.Arg726Gln Single submitter Inborn genetic diseases ⚠
p.Arg72Gln Single submitter ⚠
p.Arg72Trp Single submitter ⚠
p.Arg740Cys Single submitter ⚠
p.Arg743Gln Single submitter Inborn genetic diseases ⚠
p.Arg745Gln Single submitter ⚠
p.Arg745Trp Single submitter ⚠
p.Arg799Gln Single submitter ⚠
p.Arg799Trp Single submitter ⚠
p.Arg841Cys Single submitter ⚠
p.Arg861His Single submitter ⚠
p.Arg90His Single submitter Inborn genetic diseases ⚠
p.Arg918Cys Single submitter ⚠
p.Asn175Ser Single submitter ⚠
p.Asn489Lys Single submitter ⚠
p.Asn606Lys Single submitter ⚠
p.Asn60Ser Single submitter ⚠
p.Asn747Ser Single submitter ⚠
p.Asp103Asn Single submitter ⚠
p.Asp1339Glu Single submitter Inborn genetic diseases ⚠
p.Asp1339Gly Single submitter Inborn genetic diseases ⚠
p.Asp1376Glu Single submitter ⚠
p.Asp137Val Single submitter ⚠
p.Asp1457Tyr Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Asp284Gly Single submitter ⚠
p.Asp330Val Single submitter ⚠
p.Asp335Asn Single submitter ⚠
p.Asp335Gly Single submitter Inborn genetic diseases ⚠
p.Asp49Glu Single submitter ⚠
p.Asp68His Single submitter Inborn genetic diseases ⚠
p.Asp732Asn Single submitter ⚠
p.Asp81His Single submitter ⚠
p.Asp82Asn Single submitter ⚠
p.Asp848Glu Single submitter ⚠
p.Asp851Asn Single submitter ⚠
p.Asp851Gly Single submitter Inborn genetic diseases ⚠
p.Asp854Glu Single submitter Inborn genetic diseases ⚠
p.Asp997Val Single submitter ⚠
p.Cys1056Tyr Single submitter Inborn genetic diseases ⚠
p.Cys110Tyr Single submitter ⚠
p.Cys1134Arg Single submitter ⚠
p.Cys1341Ser Single submitter
p.Cys147Tyr Single submitter Inborn genetic diseases ⚠
p.Cys368Tyr Single submitter ⚠
p.Cys394Arg Single submitter ⚠
p.Cys791Trp Single submitter ⚠
p.Cys791Tyr Single submitter ⚠
p.Cys998Ser Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Gln1126Arg Single submitter ⚠
p.Gln1126His Single submitter ⚠
p.Gln1151Arg Single submitter ⚠
p.Gln136Lys Single submitter ⚠
p.Gln1395His Single submitter ⚠
p.Gln1395Lys Single submitter Inborn genetic diseases ⚠
p.Gln1430Arg Single submitter ⚠
p.Gln1560Leu Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Gln209Pro Single submitter Inborn genetic diseases ⚠
p.Gln274Arg Single submitter ⚠
p.Gln274His Single submitter ⚠
p.Gln352Arg Single submitter ⚠
p.Gln919His Single submitter ⚠
p.Glu1042Asp Single submitter Inborn genetic diseases ⚠
p.Glu1097Lys Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Glu1243Lys Single submitter ⚠
p.Glu1374Lys Single submitter ⚠
p.Glu1411Gly Single submitter ⚠
p.Glu1423Asp Single submitter ⚠
p.Glu1520fs Single submitter
p.Glu265Gln Single submitter ⚠
p.Glu265Lys Single submitter Inborn genetic diseases ⚠
p.Glu410Lys Single submitter ⚠
p.Glu450Gly Single submitter ⚠
p.Glu508Gly Single submitter ⚠
p.Glu570Lys Single submitter Inborn genetic diseases ⚠
p.Glu611Asp Single submitter ⚠
p.Glu696Gln Single submitter Inborn genetic diseases ⚠
p.Glu719Asp Single submitter ⚠
p.Glu730Lys Single submitter ⚠
p.Glu763Lys Single submitter ⚠
p.Glu863Ala Single submitter ⚠
p.Glu863Ter Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gly1005Ser Single submitter Inborn genetic diseases ⚠
p.Gly1027Asp Single submitter ⚠
p.Gly1073Val Single submitter Inborn genetic diseases ⚠
p.Gly1180Trp Single submitter ⚠
p.Gly1180Val Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Gly1216Ser Single submitter ⚠
p.Gly1216Val Single submitter ⚠
p.Gly1274Arg Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Gly1274Glu Single submitter Inborn genetic diseases ⚠
p.Gly1393Val Single submitter Inborn genetic diseases ⚠
p.Gly1431Arg Single submitter ⚠
p.Gly1452Asp Single submitter ⚠
p.Gly1471Val Single submitter ⚠
p.Gly148Arg Single submitter ⚠
p.Gly1493= Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
p.Gly149Glu Single submitter AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome ⚠
p.Gly1537Val Single submitter Inborn genetic diseases ⚠
p.Gly1539Ser Single submitter ⚠