ClinVar for MedGen (Select 419902) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1588288	NM_002734.5(PRKAR1A):c.502+12_502+13del	PRKAR1A	Deletion (intron variant)	Carney complex, type 1 +3 more	GLikely benign
Select item 1562854	NM_002734.5(PRKAR1A):c.503-13dup	PRKAR1A	Duplication (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1434726	NM_002734.5(PRKAR1A):c.549+20A>G	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1425542	NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His)	PRKAR1A (Y231H)	Single nucleotide variant (missense variant)	Carney complex, type 1 +3 more	GUncertain significance
Select item 1423807	NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile)	PRKAR1A (V184I)	Single nucleotide variant (missense variant)	Carney complex, type 1 +3 more	GUncertain significance
Select item 827371	NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met)	PRKAR1A (T266M)	Single nucleotide variant (missense variant)	Carney complex, type 1 +4 more	GUncertain significance
Select item 644694	NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del)	PRKAR1A (D143del)	Microsatellite (inframe_deletion)	Carney complex, type 1 +3 more	GUncertain significance
Select item 638955	NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly)	PRKAR1A (S9G)	Single nucleotide variant (missense variant)	Carney complex, type 1 +5 more	GUncertain significance
Select item 580520	NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu)	PRKAR1A (S155L)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 1 +4 more	GUncertain significance
Select item 536890	NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His)	PRKAR1A (R342H)	Single nucleotide variant (missense variant +1 more)	Pigmented nodular adrenocortical disease, primary, 1 +5 more	GConflicting classifications of pathogenicity
Select item 433148	NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys)	PRKAR1A (R335C)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GLikely pathogenic
Select item 413791	NM_002734.5(PRKAR1A):c.549+10A>C	PRKAR1A	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 413787	NM_002734.5(PRKAR1A):c.770-9G>T	PRKAR1A	Single nucleotide variant (intron variant)	Acrodysostosis 1 with or without hormone resistance +3 more	GBenign
Select item 413784	NM_002734.5(PRKAR1A):c.489T>C (p.Thr163=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 413782	NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Pigmented nodular adrenocortical disease, primary, 1 +5 more	GBenign/Likely benign
Select item 413781	NM_002734.5(PRKAR1A):c.156A>G (p.Glu52=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 406171	NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys)	PRKAR1A (R342C)	Single nucleotide variant (missense variant +1 more)	Acrodysostosis 1 with or without hormone resistance +5 more	GConflicting classifications of pathogenicity
Select item 378429	NM_002734.5(PRKAR1A):c.440+15T>C	PRKAR1A	Single nucleotide variant (intron variant)	Acrodysostosis 1 with or without hormone resistance +4 more	GBenign
Select item 239381	NM_002734.5(PRKAR1A):c.1029C>T (p.Gly343=)	PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 41047	NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 41044	NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Pigmented nodular adrenocortical disease, primary, 1 +6 more	GBenign/Likely benign
Select item 12675	NM_002734.5(PRKAR1A):c.709-7_709-2del	PRKAR1A	Microsatellite (splice acceptor variant)	Pigmented nodular adrenocortical disease, primary, 1 +3 more	GPathogenic
Select item 12665	NM_002734.5(PRKAR1A):c.618_621del (p.Ile206fs)	PRKAR1A (I206fs)	Deletion (frameshift variant)	Familial atrial myxoma	GPathogenic

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Items: 23