PRKAR1A — 1247 ClinVar variants

All ClinVar germline PRKAR1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 440 flagged for review →

77 Pathogenic · 7 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 50 Conflicting · 35 Benign · 22 Benign/Likely benign · 459 Likely benign · 568 Uncertain significance

Full PRKAR1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 440

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

Predictors agree, ClinVar conflicts 15

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

PRKAR1A p.Ala111Thr Conflicting Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Ala191Val Conflicting Single submitter
Carney complex, type 1
PRKAR1A p.Ala7Thr Conflicting Single submitter
Carney complex, type 1
PRKAR1A p.Arg342His Conflicting Single submitter
Acrodysostosis 1 with or without hormone resistance
PRKAR1A p.Arg56Thr Conflicting Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Arg74His Conflicting Single submitter
Hereditary cancer
PRKAR1A p.Asn188Ser Conflicting Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Asp80Tyr Conflicting Single submitter
Carney complex, type 1
PRKAR1A p.Gln179Glu Conflicting Single submitter
Acrodysostosis 1 with or without hormone resistance
PRKAR1A p.Gln285Arg Conflicting Single submitter
Carney complex, type 1
PRKAR1A p.Glu189Asp Conflicting Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Ile35Val Conflicting Single submitter
Acrodysostosis 1 with or without hormone resistance
PRKAR1A p.Leu359Val Conflicting Single submitter
Acrodysostosis 1 with or without hormone resistance
PRKAR1A p.Ser199Asn Conflicting Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Thr182Met Conflicting Single submitter
hereditary neoplastic syndrome

Predicted LoF vs a conflicting call 3

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.

PRKAR1A c.-6-2A>G Conflicting Single submitter
Carney complex, type 1
PRKAR1A c.-7+1G>A Conflicting Single submitter
Carney complex, type 1
PRKAR1A p.Arg352Ter Conflicting Single submitter
hereditary neoplastic syndrome

Predictors lean, ClinVar uncertain 317

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 317

PRKAR1A p.Ala102Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ala111Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ala12Gly Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Ala152Val Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Ala160Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ala160Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ala191Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ala29Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ala341Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ala41Thr Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Ala62Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ala62Val Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Ala8Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Arg13His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Arg16Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Arg228Gln Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Arg232Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Arg264Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Arg264His Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Arg306Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Arg342Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Arg352Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Arg42Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Arg45Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Arg51Gly Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Arg56Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Arg74Cys Uncertain significance Multiple submitters
PRKAR1A-related disorder
PRKAR1A p.Arg74Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Arg96Gln Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Asn220Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Asn26Asp Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Asn309Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Asn374Asp Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Asn67Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Asn67Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Asp169Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Asp172His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Asp260Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Asp260His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Asp76Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Asp80Glu Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Asp80Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Cys39Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Gln179His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Gln275Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Gln66Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Gln66Lys Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Gln69Arg Uncertain significance Multiple submitters
Acrodysostosis 1 with or without hormone resistance
PRKAR1A p.Glu11Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Glu17Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Glu181Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Glu2Gln Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Glu58Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Gly161Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.His25Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.His25Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.His25Tyr Uncertain significance Multiple submitters
Acrodysostosis 1 with or without hormone resistance
PRKAR1A p.Ile100Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ile118Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ile255Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ile27Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ile27Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ile65Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ile82Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Leu15Ile Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Leu15Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Leu20Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Leu20Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Leu250Phe Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Lys134Arg Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Lys134Met Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Lys216Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Lys218Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Lys24Arg Uncertain significance Multiple submitters
Acrodysostosis 1 with or without hormone resistance
PRKAR1A p.Lys252Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Lys261Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Lys32Glu Uncertain significance Multiple submitters
Acrodysostosis 1 with or without hormone resistance
PRKAR1A p.Met153Ile Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Met47Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Phe276Ser Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Phe355Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Pro119Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Pro210Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Pro288Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Pro334Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Pro344Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Pro353Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Pro43Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Pro46His Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Pro84Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Pro85Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Pro85Leu Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Pro87Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Pro87Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ser101Asn Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Ser14Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ser14Thr Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Ser155Leu Uncertain significance Multiple submitters
familial atrial myxoma
PRKAR1A p.Ser193Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ser34Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ser363Leu Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Ser5Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ser5Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ser77Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ser9Arg Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Ser9Gly Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Thr163Ala Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Thr209Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Thr73Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Tyr113Cys Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Tyr207Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Tyr21Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Val176Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Val184Ile Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Val194Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Val22Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Val22Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Val90Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Val91Ala Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Val91Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ala102Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Ala111Val Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ala126Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Ala126Thr Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ala127Asp Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ala131Thr Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ala160Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Ala191Glu Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Ala204Gly Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ala270Val Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Ala29Ser Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ala300Gly Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ala301Val Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ala341Thr Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ala41Val Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Ala48Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Ala71Val Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ala7Val Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Ala8Asp Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ala8Val Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ala99Gly Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ala99Val Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Arg115Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Arg13Ser Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Arg146Gly Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Arg146Ser Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Arg333Cys Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Arg352Gly Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Arg357Cys Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Arg357His Uncertain significance Single submitter
Carney complex, type 1

Predictors split 105

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

PRKAR1A p.Ala110Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ala129Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ala160Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ala41Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ala71Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Arg13Cys Uncertain significance Multiple submitters
Acrodysostosis 1 with or without hormone resistance
PRKAR1A p.Arg16Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Arg305Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Arg305His Uncertain significance Multiple submitters
pigmented nodular adrenocortical disease, primary, 1
PRKAR1A p.Arg317Gly Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Arg56Gly Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Asn188Tyr Uncertain significance Multiple submitters
Acrodysostosis 1 with or without hormone resistance
PRKAR1A p.Asp142Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Asp178Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Asp33Asn Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Gln28Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Gln28Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Gln37Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Glu10Lys Uncertain significance Multiple submitters
Acrodysostosis 1 with or without hormone resistance
PRKAR1A p.Glu247Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Glu287Lys Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Glu52Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Glu55Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Glu61Gly Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Ile177Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Lys252Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Lys261Glu Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Lys261Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Lys32Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Lys349Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Met245Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Phe376Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Phe54Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Pro288Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Pro320Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ser139Leu Uncertain significance Multiple submitters
Acrodysostosis 1 with or without hormone resistance
PRKAR1A p.Ser193Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ser254Cys Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Thr106Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Thr266Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Thr40Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Tyr185Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Tyr231His Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Val253Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Val284Leu Uncertain significance Multiple submitters
Carney complex, type 1
PRKAR1A p.Val284Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Val313Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PRKAR1A p.Ala191Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Arg13Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Arg305Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Arg342Cys Conflicting Single submitter
Acrodysostosis 1 with or without hormone resistance
PRKAR1A p.Arg45Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Arg95Trp Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Asn135Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Asn26Lys Uncertain significance Single submitter
pigmented nodular adrenocortical disease, primary, 1
PRKAR1A p.Asn26Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Asn26Thr Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Asn309Ile Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Asn374Ser Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Asp143Asn Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Asp143Gly Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Asp143Val Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Gln23Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Gln37His Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Glu11Gln Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Glu181Asp Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Glu257Ala Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Glu277Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Glu311Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Glu44Gly Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Glu52Gly Conflicting Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Gly198Arg Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Gly279Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Gly279Glu Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Gly286Glu Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Ile100Leu Uncertain significance Single submitter
PRKAR1A p.Ile177Met Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ile234Val Uncertain significance Single submitter
PRKAR1A p.Ile255Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Ile35Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Leu15Val Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Leu303Arg Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Leu303Val Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Leu30Gln Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Leu330Val Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Leu379Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Lys216Thr Uncertain significance Single submitter
Acrodysostosis 1 with or without hormone resistance
PRKAR1A p.Met236Ile Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Met47Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Pro273Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Pro320Ser Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Pro320Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Pro353Arg Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Pro361Ala Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ser112Phe Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ser157Phe Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Ser238Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Ser375Cys Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Ser3Phe Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Thr266Ala Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Tyr105Phe Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Tyr175Phe Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Tyr246Phe Uncertain significance Single submitter
hereditary neoplastic syndrome
PRKAR1A p.Val156Ile Uncertain significance Single submitter
Carney complex, type 1
PRKAR1A p.Val348Ile Conflicting Single submitter
hereditary neoplastic syndrome

All PRKAR1A variants

Pathogenic 77

p.Arg16Ter Multiple submitters Acrodysostosis 1 with or without hormone resistance
p.Arg228Ter Multiple submitters Carney complex
p.Arg368Ter Multiple submitters Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
p.Arg42Ter Multiple submitters Carney complex, type 1
p.Arg74fs Multiple submitters Carney complex, type 1
p.Arg97Ter Multiple submitters hereditary neoplastic syndrome
p.Asp269Gly Multiple submitters Carney complex, type 1
p.Gln179Ter Multiple submitters Carney complex, type 1
p.Gly208fs Multiple submitters Carney complex, type 1
p.Leu271fs Multiple submitters Carney complex, type 1
p.Met1Val Multiple submitters hereditary neoplastic syndrome
p.Pro320fs Multiple submitters Carney complex, type 1
p.Ser254fs Multiple submitters PRKAR1A-related disorder
p.Trp224Ter Multiple submitters Carney complex, type 1
p.Tyr246Ter Multiple submitters Carney complex, type 1
p.Val164fs Multiple submitters hereditary neoplastic syndrome
c.177+1G>A Single submitter Carney complex, type 1
c.349delG Single submitter hereditary neoplastic syndrome
c.440+1del Single submitter
c.440+1G>A Single submitter Carney complex, type 1
c.502+1G>C Single submitter Carney complex, type 1
c.502+2T>G Single submitter Carney complex, type 1
c.503del Single submitter Carney complex, type 1
c.708+1G>A Single submitter
p.Ala129fs Single submitter
p.Ala160fs Single submitter Carney complex, type 1
p.Arg228fs Single submitter hereditary neoplastic syndrome
p.Arg233fs Single submitter
p.Arg317fs Single submitter
p.Arg333fs Single submitter Carney complex, type 1
p.Arg96Ter Single submitter Carney complex, type 1
p.Asn144fs Single submitter Carney complex, type 1
p.Asn309fs Single submitter Carney complex, type 1
p.Asn374fs Single submitter
p.Asp121fs Single submitter
p.Asp178fs Single submitter Carney complex, type 1
p.Asp183fs Single submitter Carney complex, type 1
p.Asp33fs Single submitter Carney complex, type 1
p.Gln167Ter Single submitter
p.Gln285Ter Single submitter hereditary neoplastic syndrome
p.Gln64fs Single submitter Carney complex, type 1
p.Glu263Ter Single submitter Carney complex, type 1
p.Glu314Ter Single submitter Carney complex, type 1
p.Gly198fs Single submitter Carney complex, type 1
p.Gly72fs Single submitter
p.Gly98fs Single submitter hereditary neoplastic syndrome
p.His140fs Single submitter Carney complex, type 1
p.Ile165fs Single submitter Carney complex, type 1
p.Ile255fs Single submitter Carney complex, type 1
p.Ile327Thr Single submitter Acrodysostosis 1 with or without hormone resistance
p.Leu240fs Single submitter Carney complex, type 1
p.Lys24fs Single submitter
p.Met125fs Single submitter
p.Met47fs Single submitter PRKAR1A-related disorder
p.Phe293Ile Single submitter Carney complex, type 1
p.Pro210fs Single submitter Carney complex, type 1
p.Ser254_Ile255insTer Single submitter Carney complex, type 1
p.Thr163fs Single submitter
p.Thr239Ala Single submitter Carney complex, type 1
p.Thr266fs Single submitter Carney complex, type 1
p.Thr6fs Single submitter
p.Trp262Ter Single submitter Carney complex, type 1
p.Tyr113Ter Single submitter Carney complex, type 1
p.Tyr323Ter Single submitter Carney complex, type 1
p.Tyr53fs Single submitter Carney complex, type 1
p.Tyr53Ter Single submitter Carney complex, type 1
p.Val114fs Single submitter Carney complex, type 1
p.Val117Phe Single submitter
p.Val136fs Single submitter
p.Val156fs Single submitter Carney complex, type 1
p.Val221fs Single submitter Carney complex, type 1
c.708+1G>T No assertion criteria Carney complex, type 1
c.892-1G>A No assertion criteria Adrenocortical tumor, somatic
p.Arg335Pro No assertion criteria Acrodysostosis 1 with or without hormone resistance
p.Glu60_Lys116del No assertion criteria Carney complex, type 1
p.Ile206fs No assertion criteria familial atrial myxoma
p.Trp262_Glu263delinsCysTer No assertion criteria Carney complex, type 1

Pathogenic/Likely pathogenic 7

c.502+1G>A Multiple submitters Carney complex, type 1
c.549+1G>A Multiple submitters Carney complex, type 1
c.709-7_709-2del Multiple submitters Carney complex, type 1
c.892-2A>G Multiple submitters hereditary neoplastic syndrome
p.Arg335Cys Multiple submitters Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
p.Glu311fs Multiple submitters Carney complex, type 1
p.Trp190Ter Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 29

c.891+1G>A Multiple submitters Carney complex, type 1
c.891+3A>G Multiple submitters hereditary neoplastic syndrome
c.177+1G>T Single submitter hereditary neoplastic syndrome
c.178-2A>T Single submitter Carney complex, type 1
c.348+1G>C Single submitter Carney complex, type 1
c.349-1G>A Single submitter hereditary neoplastic syndrome
c.441-2A>G Single submitter Carney complex, type 1
c.502+2T>C Single submitter familial atrial myxoma
c.550-17T>A Single submitter Carney complex, type 1
c.550-8_550-1del Single submitter Carney complex, type 1
c.892-26_905del Single submitter Carney complex, type 1
c.973+1G>C Single submitter hereditary neoplastic syndrome
c.-7G>A Single submitter Carney complex, type 1
c.-97G>A Single submitter Carney complex, type 1
p.Ala212Thr Single submitter PRKAR1A-related disorder
p.Ala328Thr Single submitter Acrodysostosis 1 with or without hormone resistance
p.Arg232Lys Single submitter
p.Gln28Ter Single submitter hereditary neoplastic syndrome
p.Glu189fs Single submitter arrhythmogenic right ventricular dysplasia 10
p.Glu60fs Single submitter Carney complex, type 1
p.Gly325fs Single submitter hereditary neoplastic syndrome
p.Lys346fs Single submitter PRKAR1A-related disorder
p.Met1Ile Single submitter hereditary neoplastic syndrome
p.Pro43fs Single submitter
p.Ser330Ter Single submitter
p.Tyr175fs Single submitter
p.Tyr21Ter Single submitter hereditary neoplastic syndrome
p.Val381fs Single submitter Carney complex, type 1
p.Tyr207Cys No assertion criteria Acrodysostosis 1 with or without hormone resistance

Conflicting classifications of pathogenicity 50

c.177+3A>G Single submitter hereditary neoplastic syndrome
c.178-3C>T Single submitter hereditary neoplastic syndrome
c.349-5T>C Single submitter hereditary neoplastic syndrome
c.440+4G>A Single submitter hereditary neoplastic syndrome
c.441-5T>C Single submitter Carney complex, type 1
c.441-5T>G Single submitter hereditary neoplastic syndrome
c.441-6_441-5del Single submitter hereditary neoplastic syndrome
c.502+3A>G Single submitter hereditary neoplastic syndrome
c.502+4A>C Single submitter hereditary neoplastic syndrome
c.549+20A>G Single submitter Carney complex, type 1
c.549+6A>T Single submitter Carney complex, type 1
c.550-3T>C Single submitter Carney complex, type 1
c.708+4A>G Single submitter hereditary neoplastic syndrome
c.770-8T>G Single submitter Acrodysostosis 1 with or without hormone resistance
c.892-5T>C Single submitter Carney complex, type 1
c.973+3A>G Single submitter Carney complex, type 1
c.974-6C>A Single submitter Carney complex, type 1
c.-11C>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.-25C>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.-6-2A>G Single submitter Carney complex, type 1 ⚠
c.-6-4G>T Single submitter hereditary neoplastic syndrome
c.-7+1G>A Single submitter Carney complex, type 1 ⚠
p.Ala111Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala191Val Single submitter Carney complex, type 1 ⚠
p.Ala7Thr Single submitter Carney complex, type 1 ⚠
p.Arg342Cys Single submitter Acrodysostosis 1 with or without hormone resistance ⚠
p.Arg342His Single submitter Acrodysostosis 1 with or without hormone resistance ⚠
p.Arg352Ter Single submitter hereditary neoplastic syndrome ⚠
p.Arg56Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg74His Single submitter Hereditary cancer ⚠
p.Asn188Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asp80Tyr Single submitter Carney complex, type 1 ⚠
p.Gln167= Single submitter hereditary neoplastic syndrome
p.Gln179Glu Single submitter Acrodysostosis 1 with or without hormone resistance ⚠
p.Gln285Arg Single submitter Carney complex, type 1 ⚠
p.Glu103= Single submitter hereditary neoplastic syndrome
p.Glu189Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu52Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu60= Single submitter hereditary neoplastic syndrome
p.Ile100= Single submitter hereditary neoplastic syndrome
p.Ile159= Single submitter Carney complex, type 1
p.Ile35Val Single submitter Acrodysostosis 1 with or without hormone resistance ⚠
p.Leu359Val Single submitter Acrodysostosis 1 with or without hormone resistance ⚠
p.Phe324= Single submitter hereditary neoplastic syndrome
p.Ser155= Single submitter Carney complex, type 1
p.Ser199Asn Single submitter hereditary neoplastic syndrome ⚠
p.Ter338Glu Single submitter Carney complex, type 1
p.Thr182Met Single submitter hereditary neoplastic syndrome ⚠
p.Val184= Single submitter hereditary neoplastic syndrome
p.Val348Ile Single submitter hereditary neoplastic syndrome ⚠

Benign 35

c.349-5dup Multiple submitters hereditary neoplastic syndrome
c.440+15T>C Multiple submitters Acrodysostosis 1 with or without hormone resistance
c.550-18A>G Multiple submitters Carney complex, type 1
c.709-209G>A Multiple submitters
c.770-24G>A Multiple submitters Carney complex, type 1
c.770-256C>T Multiple submitters
c.770-9G>T Multiple submitters Carney complex, type 1
c.892-34G>T Multiple submitters Carney complex, type 1
c.974-102A>T Multiple submitters
c.-47C>A Multiple submitters
c.-6-236C>T Multiple submitters
c.178-116del Single submitter
c.178-234A>G Single submitter
c.502+117dup Single submitter
c.502+209C>T Single submitter
c.503-246_503-245insGT Single submitter
c.549+23del Single submitter Carney complex, type 1
c.708+134_708+135insCT Single submitter
c.708+142A>G Single submitter
c.709-9del Single submitter Carney complex, type 1
c.891+332T>A Single submitter
c.892-8del Single submitter Carney complex, type 1
c.973+54G>A Single submitter
c.-6-711A>G Single submitter
c.-69A>G Single submitter
c.-7+169G>T Single submitter
c.-75G>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.*1057G>A Single submitter Acrodysostosis 1 with or without hormone resistance
c.*1606A>G Single submitter Acrodysostosis 1 with or without hormone resistance
c.*2212C>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.*2844A>C Single submitter Acrodysostosis 1 with or without hormone resistance
c.*2934T>C Single submitter
c.*672T>C Single submitter Carney complex, type 1
c.*795G>T Single submitter Carney complex, type 1
p.Arg333His Single submitter Acrodysostosis 1 with or without hormone resistance

Benign/Likely benign 22

c.502+12_502+13del Multiple submitters Carney complex, type 1
c.503-13dup Multiple submitters familial atrial myxoma
c.549+14A>G Multiple submitters Carney complex, type 1
c.550-8C>T Multiple submitters hereditary neoplastic syndrome
c.769+10A>T Multiple submitters Carney complex, type 1
c.974-19C>T Multiple submitters Carney complex, type 1
c.-6-4G>A Multiple submitters Carney complex, type 1
c.-6-7C>T Multiple submitters Acrodysostosis 1 with or without hormone resistance
c.*1212T>G Multiple submitters
c.*1244T>C Multiple submitters
c.*1777C>T Multiple submitters
c.*2188C>G Multiple submitters
c.*812A>C Multiple submitters Acrodysostosis 1 with or without hormone resistance
c.*870G>A Multiple submitters
p.Ala110= Multiple submitters Carney complex, type 1
p.Ala127= Multiple submitters familial atrial myxoma
p.Glu52= Multiple submitters hereditary neoplastic syndrome
p.Gly161= Multiple submitters hereditary neoplastic syndrome
p.Gly343= Multiple submitters Carney complex, type 1
p.Ile226= Multiple submitters Acrodysostosis 1 with or without hormone resistance
p.Thr182= Multiple submitters hereditary neoplastic syndrome
p.Tyr21= Multiple submitters hereditary neoplastic syndrome

Likely benign 459

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

c.178-4T>C Multiple submitters hereditary neoplastic syndrome
c.178-8T>G Multiple submitters Carney complex, type 1
c.440+7A>G Multiple submitters Carney complex, type 1
c.441-4G>A Multiple submitters Carney complex, type 1
c.441-5del Multiple submitters Carney complex, type 1
c.441-6T>C Multiple submitters Carney complex, type 1
c.502+14G>C Multiple submitters Carney complex, type 1
c.549+10A>C Multiple submitters Carney complex, type 1
c.550-6C>T Multiple submitters Carney complex, type 1
c.770-154A>G Multiple submitters
c.892-4A>G Multiple submitters Carney complex, type 1
c.973+14C>A Multiple submitters Carney complex, type 1
c.974-10C>T Multiple submitters Carney complex, type 1
c.974-4C>G Multiple submitters hereditary neoplastic syndrome
c.974-4C>T Multiple submitters Carney complex, type 1
c.-6-4G>C Multiple submitters Carney complex, type 1
c.-7+91G>T Multiple submitters
c.*138C>A Multiple submitters
p.Ala102= Multiple submitters Carney complex, type 1
p.Ala111= Multiple submitters hereditary neoplastic syndrome
p.Ala129= Multiple submitters hereditary neoplastic syndrome
p.Ala131= Multiple submitters hereditary neoplastic syndrome
p.Ala160= Multiple submitters Carney complex, type 1
p.Ala204= Multiple submitters hereditary neoplastic syndrome
p.Ala29= Multiple submitters hereditary neoplastic syndrome
p.Ala300= Multiple submitters Carney complex, type 1
p.Ala301= Multiple submitters hereditary neoplastic syndrome
p.Ala328= Multiple submitters hereditary neoplastic syndrome
p.Ala341= Multiple submitters hereditary neoplastic syndrome
p.Ala41= Multiple submitters Carney complex, type 1
p.Ala48= Multiple submitters hereditary neoplastic syndrome
p.Ala7= Multiple submitters hereditary neoplastic syndrome
p.Arg13= Multiple submitters hereditary neoplastic syndrome
p.Arg211= Multiple submitters hereditary neoplastic syndrome
p.Arg228= Multiple submitters hereditary neoplastic syndrome
p.Arg354= Multiple submitters hereditary neoplastic syndrome
p.Arg51= Multiple submitters hereditary neoplastic syndrome
p.Arg74= Multiple submitters hereditary neoplastic syndrome
p.Arg94= Multiple submitters hereditary neoplastic syndrome
p.Arg97= Multiple submitters hereditary neoplastic syndrome
p.Asn187= Multiple submitters hereditary neoplastic syndrome
p.Asn26= Multiple submitters hereditary neoplastic syndrome
p.Asn369= Multiple submitters hereditary neoplastic syndrome
p.Asn88= Multiple submitters hereditary neoplastic syndrome
p.Asp109= Multiple submitters Carney complex, type 1
p.Asp278= Multiple submitters Carney complex, type 1
p.Asp364= Multiple submitters hereditary neoplastic syndrome
p.Cys347= Multiple submitters Carney complex, type 1
p.Cys39= Multiple submitters hereditary neoplastic syndrome
p.Gln275= Multiple submitters Carney complex, type 1
p.Gln304= Multiple submitters hereditary neoplastic syndrome
p.Gln37= Multiple submitters Carney complex, type 1
p.Gln371= Multiple submitters hereditary neoplastic syndrome
p.Gln372= Multiple submitters Carney complex, type 1
p.Gln64= Multiple submitters hereditary neoplastic syndrome
p.Glu189= Multiple submitters hereditary neoplastic syndrome
p.Glu19= Multiple submitters Carney complex, type 1
p.Glu202= Multiple submitters Carney complex, type 1
p.Glu248= Multiple submitters hereditary neoplastic syndrome
p.Glu263= Multiple submitters hereditary neoplastic syndrome
p.Glu310= Multiple submitters Carney complex, type 1
p.Glu356= Multiple submitters hereditary neoplastic syndrome
p.Glu44= Multiple submitters hereditary neoplastic syndrome
p.Glu61= Multiple submitters hereditary neoplastic syndrome
p.Glu79= Multiple submitters Carney complex, type 1
p.Gly168= Multiple submitters Carney complex, type 1
p.Gly171= Multiple submitters hereditary neoplastic syndrome
p.Gly198= Multiple submitters hereditary neoplastic syndrome
p.Gly225= Multiple submitters hereditary neoplastic syndrome
p.Gly279= Multiple submitters hereditary neoplastic syndrome
p.Gly298= Multiple submitters Carney complex, type 1
p.Gly319= Multiple submitters hereditary neoplastic syndrome
p.Gly4= Multiple submitters hereditary neoplastic syndrome
p.His25= Multiple submitters hereditary neoplastic syndrome
p.Ile132= Multiple submitters hereditary neoplastic syndrome
p.Ile27= Multiple submitters hereditary neoplastic syndrome
p.Ile327= Multiple submitters Carney complex, type 1
p.Ile35= Multiple submitters hereditary neoplastic syndrome
p.Ile370= Multiple submitters hereditary neoplastic syndrome
p.Ile82= Multiple submitters hereditary neoplastic syndrome
p.Leu15= Multiple submitters Carney complex, type 1
p.Leu20= Multiple submitters Carney complex, type 1
p.Leu271= Multiple submitters Carney complex, type 1
p.Leu30= Multiple submitters hereditary neoplastic syndrome
p.Leu31= Multiple submitters hereditary neoplastic syndrome
p.Leu318= Multiple submitters hereditary neoplastic syndrome
p.Leu329= Multiple submitters hereditary neoplastic syndrome
p.Leu38= Multiple submitters hereditary neoplastic syndrome
p.Leu50= Multiple submitters hereditary neoplastic syndrome
p.Leu57= Multiple submitters hereditary neoplastic syndrome
p.Leu68= Multiple submitters Carney complex, type 1
p.Lys222= Multiple submitters hereditary neoplastic syndrome
p.Lys24= Multiple submitters hereditary neoplastic syndrome
p.Lys242= Multiple submitters hereditary neoplastic syndrome
p.Lys261= Multiple submitters hereditary neoplastic syndrome
p.Lys63= Multiple submitters Carney complex, type 1
p.Lys70= Multiple submitters hereditary neoplastic syndrome
p.Phe150= Multiple submitters hereditary neoplastic syndrome
p.Phe158= Multiple submitters hereditary neoplastic syndrome
p.Phe174= Multiple submitters hereditary neoplastic syndrome
p.Phe293= Multiple submitters Carney complex, type 1
p.Phe376= Multiple submitters hereditary neoplastic syndrome
p.Phe54= Multiple submitters hereditary neoplastic syndrome
p.Pro210= Multiple submitters hereditary neoplastic syndrome
p.Pro273= Multiple submitters Carney complex, type 1
p.Pro320= Multiple submitters hereditary neoplastic syndrome
p.Pro361= Multiple submitters hereditary neoplastic syndrome
p.Pro46= Multiple submitters hereditary neoplastic syndrome
p.Pro84= Multiple submitters hereditary neoplastic syndrome
p.Pro85= Multiple submitters hereditary neoplastic syndrome
p.Pro89= Multiple submitters hereditary neoplastic syndrome
p.Ser101= Multiple submitters hereditary neoplastic syndrome
p.Ser112= Multiple submitters hereditary neoplastic syndrome
p.Ser14= Multiple submitters hereditary neoplastic syndrome
p.Ser193= Multiple submitters hereditary neoplastic syndrome
p.Ser199= Multiple submitters hereditary neoplastic syndrome
p.Ser254= Multiple submitters hereditary neoplastic syndrome
p.Ser378= Multiple submitters hereditary neoplastic syndrome
p.Ser380= Multiple submitters hereditary neoplastic syndrome
p.Ser9= Multiple submitters hereditary neoplastic syndrome
p.Thr124= Multiple submitters hereditary neoplastic syndrome
p.Thr163= Multiple submitters hereditary neoplastic syndrome
p.Thr214= Multiple submitters Carney complex, type 1
p.Thr239= Multiple submitters hereditary neoplastic syndrome
p.Thr338= Multiple submitters hereditary neoplastic syndrome
p.Thr6= Multiple submitters hereditary neoplastic syndrome
p.Tyr122= Multiple submitters hereditary neoplastic syndrome
p.Tyr175= Multiple submitters Carney complex, type 1
p.Tyr207= Multiple submitters Carney complex, type 1
p.Tyr231= Multiple submitters Carney complex, type 1
p.Val156= Multiple submitters hereditary neoplastic syndrome
p.Val164= Multiple submitters hereditary neoplastic syndrome
p.Val284= Multiple submitters hereditary neoplastic syndrome
p.Val348= Multiple submitters hereditary neoplastic syndrome
p.Val36= Multiple submitters Carney complex, type 1
p.Val377= Multiple submitters Carney complex, type 1
p.Val381= Multiple submitters Carney complex, type 1
c.177+10A>C Single submitter Carney complex, type 1
c.177+12T>C Single submitter Carney complex, type 1
c.177+12T>G Single submitter Carney complex, type 1
c.177+14_177+15del Single submitter Carney complex, type 1
c.177+16G>A Single submitter Carney complex, type 1
c.177+18G>A Single submitter Carney complex, type 1
c.177+20G>C Single submitter Carney complex, type 1
c.177+7A>G Single submitter Carney complex, type 1
c.177+8T>C Single submitter Carney complex, type 1
c.177+9A>G Single submitter Carney complex, type 1
c.178-10T>C Single submitter Carney complex, type 1
c.178-11A>C Single submitter Carney complex, type 1
c.178-12A>G Single submitter Carney complex, type 1
c.178-14G>A Single submitter Carney complex, type 1
c.178-14G>C Single submitter Carney complex, type 1
c.178-15C>T Single submitter Carney complex, type 1
c.178-16T>A Single submitter Carney complex, type 1
c.178-18A>G Single submitter Carney complex, type 1
c.178-19A>C Single submitter Carney complex, type 1
c.178-19A>G Single submitter Carney complex, type 1
c.178-19A>T Single submitter Carney complex, type 1
c.178-20A>G Single submitter Carney complex, type 1
c.178-20A>T Single submitter Carney complex, type 1
c.178-7C>A Single submitter Carney complex, type 1
c.178-8del Single submitter Carney complex, type 1
c.348+10A>G Single submitter Carney complex, type 1
c.348+11dup Single submitter Carney complex, type 1
c.348+13T>C Single submitter Carney complex, type 1
c.348+15T>G Single submitter Carney complex, type 1
c.348+16G>A Single submitter Carney complex, type 1
c.348+16G>C Single submitter Carney complex, type 1
c.348+17A>T Single submitter Carney complex, type 1
c.348+18A>G Single submitter Carney complex, type 1
c.348+20_348+21del Single submitter Carney complex, type 1
c.348+20A>G Single submitter Carney complex, type 1
c.348+7T>C Single submitter Carney complex, type 1
c.348+8T>G Single submitter Carney complex, type 1
c.348+9G>C Single submitter Carney complex, type 1
c.349-12G>A Single submitter Carney complex, type 1
c.349-13A>G Single submitter Carney complex, type 1
c.349-14C>T Single submitter Carney complex, type 1
c.349-15T>G Single submitter Carney complex, type 1
c.349-17C>T Single submitter Carney complex, type 1
c.349-19dup Single submitter Carney complex, type 1
c.349-20G>A Single submitter Carney complex, type 1
c.349-20G>C Single submitter Carney complex, type 1
c.349-7_349-6insG Single submitter Carney complex, type 1
c.349-8T>A Single submitter Carney complex, type 1
c.349-9C>G Single submitter Carney complex, type 1
c.349-9dup Single submitter Carney complex, type 1
c.440+10G>A Single submitter Carney complex, type 1
c.440+11del Single submitter Carney complex, type 1
c.440+11G>A Single submitter Carney complex, type 1
c.440+11G>C Single submitter Carney complex, type 1
c.440+12C>G Single submitter Carney complex, type 1
c.440+13T>C Single submitter Carney complex, type 1
c.440+14_440+15del Single submitter Carney complex, type 1
c.440+14C>A Single submitter Carney complex, type 1
c.440+14C>G Single submitter Carney complex, type 1
c.440+15_440+16delinsGC Single submitter Carney complex, type 1
c.440+16T>C Single submitter Carney complex, type 1
c.440+17_440+20del Single submitter Carney complex, type 1
c.440+19T>C Single submitter Carney complex, type 1
c.440+9A>G Single submitter Carney complex, type 1
c.441-10T>C Single submitter Carney complex, type 1
c.441-11C>T Single submitter Carney complex, type 1
c.441-14_441-12del Single submitter Carney complex, type 1
c.441-14TC[2] Single submitter Carney complex, type 1
c.441-15T>C Single submitter Carney complex, type 1
c.441-15T>G Single submitter Carney complex, type 1
c.441-16del Single submitter Carney complex, type 1
c.441-19G>A Single submitter Carney complex, type 1
c.441-20_441-19del Single submitter Carney complex, type 1
c.441-20A>G Single submitter Carney complex, type 1
c.441-8T>C Single submitter Carney complex, type 1
c.502+10T>A Single submitter Carney complex, type 1
c.502+14G>A Single submitter Carney complex, type 1
c.502+14G>T Single submitter Carney complex, type 1
c.502+15A>G Single submitter Carney complex, type 1
c.502+18A>G Single submitter Carney complex, type 1
c.502+18A>T Single submitter Carney complex, type 1
c.502+19T>C Single submitter Carney complex, type 1
c.502+20G>A Single submitter Carney complex, type 1
c.502+26T>C Single submitter
c.502+7G>A Single submitter Carney complex, type 1
c.502+9C>T Single submitter Carney complex, type 1
c.503-10C>T Single submitter Carney complex, type 1
c.503-12A>G Single submitter Carney complex, type 1
c.503-16T>C Single submitter Carney complex, type 1
c.503-18T>A Single submitter Carney complex, type 1
c.503-20A>C Single submitter Carney complex, type 1
c.503-21_503-18del Single submitter Carney complex, type 1
c.503-6T>C Single submitter Carney complex, type 1
c.503-7C>G Single submitter Carney complex, type 1
c.503-8T>C Single submitter Carney complex, type 1
c.503-9C>G Single submitter Carney complex, type 1
c.549+12C>T Single submitter Carney complex, type 1
c.549+16A>G Single submitter Carney complex, type 1
c.549+18C>A Single submitter Carney complex, type 1
c.549+22_549+23dup Single submitter Carney complex, type 1
c.549+233C>T Single submitter
c.549+9T>C Single submitter Carney complex, type 1
c.550-11T>C Single submitter Carney complex, type 1
c.550-12C>T Single submitter Carney complex, type 1
c.550-13A>G Single submitter Carney complex, type 1
c.550-14C>T Single submitter Carney complex, type 1
c.550-15T>C Single submitter Carney complex, type 1
c.550-16G>A Single submitter Carney complex, type 1
c.550-16G>T Single submitter Carney complex, type 1
c.550-17T>C Single submitter Carney complex, type 1
c.550-18A>C Single submitter Carney complex, type 1
c.550-18A>T Single submitter Carney complex, type 1
c.550-19G>A Single submitter Carney complex, type 1
c.550-19G>T Single submitter Carney complex, type 1
c.550-234T>C Single submitter
c.550-4T>G Single submitter hereditary neoplastic syndrome
c.550-5T>A Single submitter Carney complex, type 1
c.550-6_550-5insCT Single submitter Carney complex, type 1
c.550-7A>G Single submitter Carney complex, type 1
c.550-8C>A Single submitter Carney complex, type 1
c.550-8C>G Single submitter Carney complex, type 1
c.550-9G>A Single submitter Carney complex, type 1
c.550-9G>T Single submitter Carney complex, type 1
c.708+11A>G Single submitter Carney complex, type 1
c.708+12T>C Single submitter Carney complex, type 1
c.708+13G>A Single submitter Carney complex, type 1
c.708+19dup Single submitter Carney complex, type 1
c.708+20G>T Single submitter Carney complex, type 1
c.708+7G>A Single submitter Carney complex, type 1
c.708+8A>G Single submitter
c.709-10T>A Single submitter Carney complex, type 1
c.709-11T>G Single submitter Carney complex, type 1
c.709-12T>G Single submitter Carney complex, type 1
c.709-13T>C Single submitter Carney complex, type 1
c.709-15del Single submitter Carney complex, type 1
c.709-15T>A Single submitter Carney complex, type 1
c.709-18T>C Single submitter Carney complex, type 1
c.709-37G>A Single submitter
c.709-4T>G Single submitter Carney complex, type 1
c.709-6T>C Single submitter Carney complex, type 1
c.709-8A>C Single submitter Carney complex, type 1
c.709-8A>G Single submitter Carney complex, type 1
c.709-8A>T Single submitter Carney complex, type 1
c.709-9T>C Single submitter Carney complex, type 1
c.769+10A>G Single submitter Carney complex, type 1
c.769+13G>A Single submitter Carney complex, type 1
c.769+13G>C Single submitter Carney complex, type 1
c.769+15del Single submitter Carney complex, type 1
c.769+15G>T Single submitter Carney complex, type 1
c.769+16T>C Single submitter Carney complex, type 1
c.769+19T>A Single submitter Carney complex, type 1
c.769+19T>G Single submitter Carney complex, type 1
c.770-11T>C Single submitter Carney complex, type 1
c.770-12C>A Single submitter Carney complex, type 1
c.770-12C>T Single submitter Carney complex, type 1
c.770-13T>C Single submitter Carney complex, type 1
c.770-14T>C Single submitter Carney complex, type 1
c.770-16G>A Single submitter Carney complex, type 1
c.770-19T>C Single submitter Carney complex, type 1
c.770-4T>G Single submitter Carney complex, type 1
c.770-6T>C Single submitter Carney complex, type 1
c.770-7C>T Single submitter Carney complex, type 1
c.770-9_770-5del Single submitter hereditary neoplastic syndrome

Uncertain significance 568

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

c.502+3A>C Multiple submitters Carney complex, type 1
c.502+4A>G Multiple submitters hereditary neoplastic syndrome
c.550-3del Multiple submitters hereditary neoplastic syndrome
c.708+4dup Multiple submitters hereditary neoplastic syndrome
c.891+4A>G Multiple submitters Carney complex, type 1
c.891+6G>T Multiple submitters Carney complex, type 1
c.892-6_892-2del Multiple submitters hereditary neoplastic syndrome
c.973+4T>G Multiple submitters hereditary neoplastic syndrome
c.974-3C>T Multiple submitters hereditary neoplastic syndrome
c.-3A>G Multiple submitters hereditary neoplastic syndrome
c.*812A>G Multiple submitters Acrodysostosis 1 with or without hormone resistance
c.*893G>C Multiple submitters Acrodysostosis 1 with or without hormone resistance
p.Ala102Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala110Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala111Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala129Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala12Gly Multiple submitters Carney complex, type 1 ⚠
p.Ala152Val Multiple submitters Carney complex, type 1 ⚠
p.Ala160Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala160Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala160Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala191Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala29Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala341Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala41Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala41Thr Multiple submitters Carney complex, type 1 ⚠
p.Ala62Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala62Val Multiple submitters Carney complex, type 1 ⚠
p.Ala71Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala8Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg13Cys Multiple submitters Acrodysostosis 1 with or without hormone resistance ⚠
p.Arg13His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg16Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg16Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg228Gln Multiple submitters Carney complex, type 1 ⚠
p.Arg232Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg264Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg264His Multiple submitters Carney complex, type 1 ⚠
p.Arg305Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg305His Multiple submitters pigmented nodular adrenocortical disease, primary, 1 ⚠
p.Arg306Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg317Gly Multiple submitters Carney complex, type 1 ⚠
p.Arg342Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg352Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg42Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg42Gly Multiple submitters hereditary neoplastic syndrome
p.Arg45Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg51Gly Multiple submitters Carney complex, type 1 ⚠
p.Arg56Gly Multiple submitters Carney complex, type 1 ⚠
p.Arg56Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg74Cys Multiple submitters PRKAR1A-related disorder ⚠
p.Arg74Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg96Gln Multiple submitters Carney complex, type 1 ⚠
p.Asn188Tyr Multiple submitters Acrodysostosis 1 with or without hormone resistance ⚠
p.Asn220Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn26Asp Multiple submitters Carney complex, type 1 ⚠
p.Asn309Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn374Asp Multiple submitters Carney complex, type 1 ⚠
p.Asn67Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn67Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp142Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp143del Multiple submitters Carney complex, type 1
p.Asp169Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp172His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp178Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp260Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp260His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp33Asn Multiple submitters Carney complex, type 1 ⚠
p.Asp33Gly Multiple submitters hereditary neoplastic syndrome
p.Asp76Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp80Glu Multiple submitters Carney complex, type 1 ⚠
p.Asp80Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys39Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln179His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln275Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln28Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln28Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln37Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln66Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln66Lys Multiple submitters Carney complex, type 1 ⚠
p.Gln69Arg Multiple submitters Acrodysostosis 1 with or without hormone resistance ⚠
p.Glu107Ala Multiple submitters Acrodysostosis 1 with or without hormone resistance
p.Glu10Lys Multiple submitters Acrodysostosis 1 with or without hormone resistance ⚠
p.Glu11Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu17Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu181Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu247Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu287Lys Multiple submitters Carney complex, type 1 ⚠
p.Glu2Gln Multiple submitters Carney complex, type 1 ⚠
p.Glu52Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu55Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu58Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu61Gly Multiple submitters Carney complex, type 1 ⚠
p.Glu81Lys Multiple submitters Carney complex, type 1
p.Gly161Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly286_Glu291del Multiple submitters Carney complex, type 1
p.Gly72_Thr75del Multiple submitters hereditary neoplastic syndrome
p.His25Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His25Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.His25Tyr Multiple submitters Acrodysostosis 1 with or without hormone resistance ⚠
p.Ile100Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile118Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile177Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile255Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile27Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile27Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile65Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile82Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu15Ile Multiple submitters Carney complex, type 1 ⚠
p.Leu15Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu20Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu20Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu250Phe Multiple submitters Carney complex, type 1 ⚠
p.Lys134Arg Multiple submitters Carney complex, type 1 ⚠
p.Lys134Met Multiple submitters Carney complex, type 1 ⚠
p.Lys216Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys218Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys24Arg Multiple submitters Acrodysostosis 1 with or without hormone resistance ⚠
p.Lys252Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys252Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys261Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys261Glu Multiple submitters Carney complex, type 1 ⚠
p.Lys261Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys32Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys32Gln Multiple submitters hereditary neoplastic syndrome
p.Lys32Glu Multiple submitters Acrodysostosis 1 with or without hormone resistance ⚠
p.Lys349Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Met153Ile Multiple submitters Carney complex, type 1 ⚠
p.Met245Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met47Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe158Ile Multiple submitters Carney complex, type 1
p.Phe276Ser Multiple submitters Carney complex, type 1 ⚠
p.Phe355Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe376Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe54Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro119Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro210Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro288Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro288Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro320Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro334Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro344Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro353Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro43Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro46His Multiple submitters Carney complex, type 1 ⚠
p.Pro84Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro85Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro85Leu Multiple submitters Carney complex, type 1 ⚠
p.Pro87Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro87Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser101Asn Multiple submitters Carney complex, type 1 ⚠
p.Ser139Leu Multiple submitters Acrodysostosis 1 with or without hormone resistance ⚠
p.Ser14Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser14Thr Multiple submitters Carney complex, type 1 ⚠
p.Ser155Leu Multiple submitters familial atrial myxoma ⚠
p.Ser193Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser193Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser254Cys Multiple submitters Carney complex, type 1 ⚠
p.Ser34Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser363Leu Multiple submitters Carney complex, type 1 ⚠
p.Ser378Leu Multiple submitters hereditary neoplastic syndrome
p.Ser5Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser5Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser77Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser9Arg Multiple submitters Carney complex, type 1 ⚠
p.Ser9Gly Multiple submitters Carney complex, type 1 ⚠
p.Thr106Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr163Ala Multiple submitters Carney complex, type 1 ⚠
p.Thr209Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr266Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr40Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr73Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr113Cys Multiple submitters Carney complex, type 1 ⚠
p.Tyr185Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr207Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr21Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr231His Multiple submitters Carney complex, type 1 ⚠
p.Val176Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Val184Ile Multiple submitters Carney complex, type 1 ⚠
p.Val194Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Val22Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Val22Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Val253Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Val274Glu Multiple submitters hereditary neoplastic syndrome
p.Val284Leu Multiple submitters Carney complex, type 1 ⚠
p.Val284Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Val313Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Val90Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Val91Ala Multiple submitters Carney complex, type 1 ⚠
p.Val91Ile Multiple submitters hereditary neoplastic syndrome ⚠
c.173_177+1dup Single submitter Carney complex, type 1
c.177+4A>G Single submitter Carney complex, type 1
c.178-5T>C Single submitter Carney complex, type 1
c.348+3_348+6del Single submitter Acrodysostosis 1 with or without hormone resistance
c.348+3A>G Single submitter hereditary neoplastic syndrome
c.348+4G>A Single submitter hereditary neoplastic syndrome
c.348+5T>G Single submitter Carney complex, type 1
c.349-5T>A Single submitter hereditary neoplastic syndrome
c.440+4G>C Single submitter Carney complex, type 1
c.440+5G>A Single submitter
c.441-4del Single submitter hereditary neoplastic syndrome
c.502+1_502+2dup Single submitter Carney complex, type 1
c.502+2dup Single submitter Carney complex, type 1
c.502+4del Single submitter hereditary neoplastic syndrome
c.502+6G>A Single submitter Carney complex, type 1
c.503-10C>A Single submitter
c.503-3T>A Single submitter hereditary neoplastic syndrome
c.550-4T>C Single submitter hereditary neoplastic syndrome
c.550-5delinsCTA Single submitter Carney complex, type 1
c.709-5T>G Single submitter
c.769+3G>A Single submitter Carney complex, type 1
c.891+2T>C Single submitter hereditary neoplastic syndrome
c.891+6G>A Single submitter Carney complex, type 1
c.892-11_892dup Single submitter Carney complex, type 1
c.892-3T>C Single submitter hereditary neoplastic syndrome
c.892-5T>A Single submitter hereditary neoplastic syndrome
c.973+19_973+37del Single submitter Carney complex, type 1
c.973+3A>T Single submitter Carney complex, type 1
c.973+4T>C Single submitter hereditary neoplastic syndrome
c.973+6T>C Single submitter Carney complex, type 1
c.973+9316T>C Single submitter
c.974-12T>C Single submitter Carney complex, type 1
c.974-2A>G Single submitter Carney complex, type 1
c.-100A>C Single submitter
c.-10C>G Single submitter Carney complex, type 1
c.-11C>G Single submitter Carney complex, type 1
c.-12C>A Single submitter Carney complex, type 1
c.-12C>G Single submitter Carney complex, type 1
c.-12C>T Single submitter Carney complex, type 1
c.-14G>T Single submitter Carney complex, type 1
c.-15C>A Single submitter Carney complex, type 1
c.-15C>G Single submitter Carney complex, type 1
c.-15C>T Single submitter Carney complex, type 1
c.-16C>A Single submitter Carney complex, type 1
c.-200T>A Single submitter Acrodysostosis 1 with or without hormone resistance
c.-2C>A Single submitter hereditary neoplastic syndrome
c.-32_-16dup Single submitter Carney complex, type 1
c.-5G>A Single submitter hereditary neoplastic syndrome
c.-6-1G>A Single submitter
c.-6-2A>C Single submitter Carney complex, type 1
c.-6A>G Single submitter Carney complex, type 1
c.-7+1G>C Single submitter Carney complex, type 1
c.-7+5G>A Single submitter Carney complex, type 1
c.-7+6_-7+31del Single submitter Carney complex, type 1
c.-7+7G>T Single submitter Carney complex, type 1
c.-7G>T Single submitter Carney complex, type 1
c.-9C>G Single submitter Carney complex, type 1
c.-9C>T Single submitter Carney complex, type 1
c.*1003C>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.*1014A>G Single submitter Acrodysostosis 1 with or without hormone resistance
c.*1062A>G Single submitter Acrodysostosis 1 with or without hormone resistance
c.*1085G>A Single submitter Acrodysostosis 1 with or without hormone resistance
c.*1111C>G Single submitter Acrodysostosis 1 with or without hormone resistance
c.*1168A>T Single submitter Carney complex, type 1
c.*1346A>G Single submitter Carney complex, type 1
c.*1487C>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.*156C>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.*1640C>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.*1687T>C Single submitter Acrodysostosis 1 with or without hormone resistance
c.*1838A>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.*1839G>A Single submitter Acrodysostosis 1 with or without hormone resistance
c.*1842A>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.*1949G>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.*2018C>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.*2067T>C Single submitter Acrodysostosis 1 with or without hormone resistance
c.*2072G>A Single submitter Acrodysostosis 1 with or without hormone resistance
c.*2089A>G Single submitter Acrodysostosis 1 with or without hormone resistance
c.*2114G>A Single submitter Acrodysostosis 1 with or without hormone resistance
c.*2152T>C Single submitter Acrodysostosis 1 with or without hormone resistance
c.*2196C>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.*2197G>A Single submitter Acrodysostosis 1 with or without hormone resistance
c.*233C>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.*2940G>A Single submitter Acrodysostosis 1 with or without hormone resistance
c.*2991G>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.*299T>G Single submitter Acrodysostosis 1 with or without hormone resistance
c.*331G>A Single submitter Acrodysostosis 1 with or without hormone resistance
c.*384C>T Single submitter Acrodysostosis 1 with or without hormone resistance
c.*389T>G Single submitter Carney complex, type 1
c.*526G>A Single submitter Carney complex, type 1
c.*535T>G Single submitter Acrodysostosis 1 with or without hormone resistance
c.*560G>A Single submitter Acrodysostosis 1 with or without hormone resistance
c.*609C>G Single submitter Acrodysostosis 1 with or without hormone resistance
c.*704T>G Single submitter Carney complex, type 1
c.*722A>G Single submitter Carney complex, type 1
c.*724T>A Single submitter Carney complex, type 1
p.Ala102Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala111Val Single submitter Carney complex, type 1 ⚠
p.Ala126Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala126Thr Single submitter Carney complex, type 1 ⚠
p.Ala127Asp Single submitter Carney complex, type 1 ⚠
p.Ala131Thr Single submitter Carney complex, type 1 ⚠
p.Ala160Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala191Glu Single submitter hereditary neoplastic syndrome ⚠
p.Ala191Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala204Gly Single submitter Carney complex, type 1 ⚠
p.Ala270Gly Single submitter Carney complex, type 1
p.Ala270Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala29Pro Single submitter hereditary neoplastic syndrome
p.Ala29Ser Single submitter Carney complex, type 1 ⚠
p.Ala300Gly Single submitter Carney complex, type 1 ⚠