"PRKAR1A-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052144	NM_002734.5(PRKAR1A):c.-88G>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	PRKAR1A-related disorder	GLikely benign
Select item 3029598	NM_002734.5(PRKAR1A):c.-87G>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	PRKAR1A-related disorder	GLikely benign
Select item 324779	NM_002734.5(PRKAR1A):c.-16C>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +2 more	GConflicting classifications of pathogenicity
Select item 833813	NM_002734.5(PRKAR1A):c.-11C>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	PRKAR1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 469058	NM_002734.5(PRKAR1A):c.18C>T (p.Thr6=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1 +2 more	GLikely benign
Select item 279877	NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter)	PRKAR1A (R16*)	Single nucleotide variant (nonsense)	Carney complex, type 1 +3 more	GPathogenic
Select item 469070	NM_002734.5(PRKAR1A):c.60C>G (p.Leu20=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 469072	NM_002734.5(PRKAR1A):c.63C>T (p.Tyr21=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 12674	NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys)	PRKAR1A (R74C)	Single nucleotide variant (missense variant)	PRKAR1A-related disorder +4 more	GUncertain significance
Select item 239382	NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His)	PRKAR1A (R74H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 700218	NM_002734.5(PRKAR1A):c.237G>A (p.Glu79=)	PRKAR1A	Single nucleotide variant (synonymous variant)	PRKAR1A-related disorder +2 more	GLikely benign
Select item 709731	NM_002734.5(PRKAR1A):c.378C>T (p.Ala126=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 413784	NM_002734.5(PRKAR1A):c.489T>C (p.Thr163=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 469069	NM_002734.5(PRKAR1A):c.596G>A (p.Ser199Asn)	PRKAR1A (S199N)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance +4 more	GConflicting classifications of pathogenicity
Select item 239387	NM_002734.5(PRKAR1A):c.675C>A (p.Gly225=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 469074	NM_002734.5(PRKAR1A):c.762T>C (p.Ser254=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 704730	NM_002734.5(PRKAR1A):c.769+10A>T	PRKAR1A	Single nucleotide variant (intron variant)	PRKAR1A-related disorder +1 more	GLikely benign
Select item 469079	NM_002734.5(PRKAR1A):c.894G>C (p.Gly298=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1 +2 more	GLikely benign
Select item 29907	NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)	PRKAR1A (R368*)	Single nucleotide variant (nonsense +1 more)	PRKAR1A-related disorder +3 more	GPathogenic