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Links from MedGen

Items: 1 to 100 of 101

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKAR1A
(S139L)
Single nucleotide variant
(missense variant)
Carney complex, type 1
+1 more
GUncertain significance
PRKAR1A
(K216T)
Single nucleotide variant
(missense variant)
Acrodysostosis 1 with or without hormone resistance
GUncertain significance
PRKAR1A
(N188Y)
Single nucleotide variant
(missense variant)
Acrodysostosis 1 with or without hormone resistance
GUncertain significance
PRKAR1A
Deletion
(intron variant)
Carney complex, type 1
+3 more
GLikely benign
PRKAR1A
Duplication
(intron variant)
not provided
+4 more
GBenign/Likely benign
PRKAR1A
Single nucleotide variant
(intron variant)
Pigmented nodular adrenocortical disease, primary, 1
+3 more
GConflicting classifications of pathogenicity
PRKAR1A
(Y231H)
Single nucleotide variant
(missense variant)
Familial atrial myxoma
+3 more
GUncertain significance
PRKAR1A
(V184I)
Single nucleotide variant
(missense variant)
Carney complex, type 1
+3 more
GUncertain significance
PRKAR1A
(R333H)
Single nucleotide variant
(missense variant +1 more)
Carney complex, type 1
+1 more
GBenign
PRKAR1A
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PRKAR1A
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PRKAR1A
(N220D)
Single nucleotide variant
(missense variant)
Carney complex, type 1
+2 more
GUncertain significance
PRKAR1A
(R13C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(intron variant)
Acrodysostosis 1 with or without hormone resistance
+2 more
GUncertain significance
PRKAR1A
(E10K)
Single nucleotide variant
(missense variant)
Acrodysostosis 1 with or without hormone resistance
+2 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(intron variant)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GBenign
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GBenign
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GBenign
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Carney complex, type 1
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Carney complex, type 1
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Carney complex, type 1
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(5 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(5 prime UTR variant +1 more)
Carney complex, type 1
+1 more
GConflicting classifications of pathogenicity
PRKAR1A
(T266M)
Single nucleotide variant
(missense variant)
Carney complex, type 1
+4 more
GUncertain significance
PRKAR1A
(R42Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PRKAR1A
(D143del)
Microsatellite
(inframe_deletion)
Carney complex, type 1
+3 more
GUncertain significance
PRKAR1A
(P119T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PRKAR1A
(S9G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
PRKAR1A
(Y207C)
Single nucleotide variant
(missense variant)
Acrodysostosis 1 with or without hormone resistance
GLikely pathogenic
PRKAR1A
(S155L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
PRKAR1A
(A111T)
Single nucleotide variant
(missense variant)
Acrodysostosis 1 with or without hormone resistance
+2 more
GUncertain significance
PRKAR1A
(R342H)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PRKAR1A
(A191T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PRKAR1A
(K32E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
PRKAR1A
(S199N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PRKAR1A
(R335C)
Single nucleotide variant
(missense variant +1 more)
Carney complex, type 1
+4 more
GLikely pathogenic
PRKAR1A
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
PRKAR1A
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign/Likely benign
PRKAR1A
Single nucleotide variant
(synonymous variant)
Acrodysostosis 1 with or without hormone resistance
+3 more
GBenign/Likely benign
PRKAR1A
(K24R)
Single nucleotide variant
(missense variant)
Acrodysostosis 1 with or without hormone resistance
+2 more
GUncertain significance
PRKAR1A
(R342C)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
PRKAR1A
Single nucleotide variant
(intron variant)
Carney complex, type 1
+3 more
GBenign
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Carney complex, type 1
+1 more
GBenign
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Carney complex, type 1
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Carney complex, type 1
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Carney complex, type 1
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign/Likely benign
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GBenign
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Carney complex, type 1
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Carney complex, type 1
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GBenign
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Carney complex, type 1
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Carney complex, type 1
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Carney complex, type 1
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
PRKAR1A
Single nucleotide variant
(synonymous variant)
Acrodysostosis 1 with or without hormone resistance
+2 more
GConflicting classifications of pathogenicity
PRKAR1A
(I35V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PRKAR1A
Single nucleotide variant
(intron variant)
Carney complex, type 1
+1 more
GBenign/Likely benign
PRKAR1A
Single nucleotide variant
(5 prime UTR variant +1 more)
Carney complex, type 1
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(5 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GUncertain significance
PRKAR1A
Single nucleotide variant
(5 prime UTR variant +1 more)
Acrodysostosis 1 with or without hormone resistance
+1 more
GBenign
PRKAR1A
(R16*)
Single nucleotide variant
(nonsense)
Carney complex, type 1
+3 more
GPathogenic
PRKAR1A
Single nucleotide variant
(synonymous variant)
Acrodysostosis 1 with or without hormone resistance
+4 more
GBenign/Likely benign
PRKAR1A
(R74H)
Single nucleotide variant
(missense variant)
Acrodysostosis 1 with or without hormone resistance
+3 more
GConflicting classifications of pathogenicity
PRKAR1A
Duplication
(intron variant)
not provided
+6 more
GBenign
PRKAR1A
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+6 more
GBenign/Likely benign
PRKAR1A
(I327T)
Single nucleotide variant
(missense variant +1 more)
Acrodysostosis 1 with or without hormone resistance
GPathogenic
PRKAR1A
(R335P)
Single nucleotide variant
(missense variant +1 more)
Acrodysostosis 1 with or without hormone resistance
GPathogenic
PRKAR1A
(Y373H)
Single nucleotide variant
(missense variant +1 more)
Carney complex, type 1
GUncertain significance
PRKAR1A
(R368*)
Single nucleotide variant
(nonsense +1 more)
PRKAR1A-related condition
+3 more
GPathogenic
PRKAR1A
Microsatellite
(splice acceptor variant)
Pigmented nodular adrenocortical disease, primary, 1
+3 more
GPathogenic
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