NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs)Pathogenic
Carney complex, type 1|not provided|Hereditary cancer-predisposing syndrome
★★☆☆2026→ Residue 164
NM_002734.5(PRKAR1A):c.682C>T (p.Arg228Ter)Pathogenic
Carney complex, type 1|not provided|Carney complex
★★☆☆2025→ Residue 228
NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter)Pathogenic
not provided|Carney complex, type 1|PRKAR1A-related disorder|Acrodysostosis 1 with or without hormone resistance|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 16
NM_002734.5(PRKAR1A):c.569G>A (p.Trp190Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 190
NM_002734.5(PRKAR1A):c.221_230del (p.Arg74fs)Pathogenic
Carney complex, type 1
★★☆☆2025→ Residue 74
NM_002734.5(PRKAR1A):c.891+3A>GLikely pathogenic
Carney complex, type 1|not provided|Hereditary cancer-predisposing syndrome
★★☆☆2025
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys)Likely pathogenic
Acrodysostosis 1 with or without hormone resistance|Carney complex, type 1;Acrodysostosis 1 with or without hormone resistance;Familial atrial myxoma;Pigmented nodular adrenocortical disease, primary, 1|not provided|Carney complex, type 1|Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
★★☆☆2025→ Residue 335
NM_002734.5(PRKAR1A):c.549+1G>APathogenic
Carney complex, type 1|not provided
★★☆☆2025
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)Pathogenic
Acrodysostosis 1 with or without hormone resistance|not provided|Carney complex, type 1|Pigmented nodular adrenocortical disease, primary, 1;Acrodysostosis 1 with or without hormone resistance;Carney complex|PRKAR1A-related disorder
★★☆☆2025→ Residue 368
NM_002734.5(PRKAR1A):c.892-2A>GPathogenic
not provided|Hereditary cancer-predisposing syndrome
★★☆☆2025
NM_002734.5(PRKAR1A):c.891+1G>ALikely pathogenic
PRKAR1A-related disorder|Carney complex, type 1;Pigmented nodular adrenocortical disease, primary, 1;Acrodysostosis 1 with or without hormone resistance;Familial atrial myxoma|Carney complex, type 1
★★☆☆2025
NM_002734.5(PRKAR1A):c.623del (p.Gly208fs)Pathogenic
Carney complex|not provided|Carney complex, type 1
★★☆☆2025→ Residue 208
NM_002734.5(PRKAR1A):c.957del (p.Pro320fs)Pathogenic
not provided|Carney complex, type 1
★★☆☆2024→ Residue 320
NM_002734.5(PRKAR1A):c.1A>G (p.Met1Val)Pathogenic
Carney complex, type 1|not provided
★★☆☆2024→ Residue 1
NM_002734.5(PRKAR1A):c.806A>G (p.Asp269Gly)Pathogenic
not provided|Carney complex, type 1
★★☆☆2024→ Residue 269
NM_002734.5(PRKAR1A):c.672G>A (p.Trp224Ter)Pathogenic
not provided|Carney complex, type 1
★★☆☆2024→ Residue 224
NM_002734.5(PRKAR1A):c.932_933del (p.Glu311fs)Pathogenic
Carney complex, type 1|Hereditary cancer-predisposing syndrome
★★☆☆2023→ Residue 311
NM_002734.5(PRKAR1A):c.502+1G>APathogenic
Carney complex, type 1|Hereditary cancer-predisposing syndrome|not provided
★★☆☆2023
NM_002734.5(PRKAR1A):c.124C>T (p.Arg42Ter)Pathogenic
Carney complex, type 1|not provided
★★☆☆2023→ Residue 42
NM_002734.5(PRKAR1A):c.812dup (p.Leu271fs)Pathogenic
Carney complex, type 1|not provided
★★☆☆2022→ Residue 271