PRKAR1A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1295447	NM_212471.3(PRKAR1A):c.-47C>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1339610	NM_212471.3(PRKAR1A):c.-7+91G>T	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250816	NM_212471.3(PRKAR1A):c.-7+169G>T	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 889722	NM_212472.2(PRKAR1A):c.-200T>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GUncertain significance
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 324776	NM_002734.5(PRKAR1A):c.-75G>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GBenign
Select item 1238750	NM_002734.5(PRKAR1A):c.-69A>G	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 324777	NM_002734.5(PRKAR1A):c.-53C>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex +1 more	GUncertain significance
Select item 386125	NM_002734.5(PRKAR1A):c.-49G>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2126173	NM_002734.5(PRKAR1A):c.-32_-16dup	PRKAR1A	Duplication (5 prime UTR variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 324778	NM_002734.5(PRKAR1A):c.-25C>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GUncertain significance
Select item 324779	NM_002734.5(PRKAR1A):c.-16C>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1396471	NM_002734.5(PRKAR1A):c.-15C>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 849446	NM_002734.5(PRKAR1A):c.-15C>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 1450797	NM_002734.5(PRKAR1A):c.-14G>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 2728934	NM_002734.5(PRKAR1A):c.-9del	PRKAR1A	Deletion (5 prime UTR variant +1 more)	Carney complex, type 1	GLikely benign
Select item 2728318	NM_002734.5(PRKAR1A):c.-12C>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 1046124	NM_002734.5(PRKAR1A):c.-12C>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 2097817	NM_002734.5(PRKAR1A):c.-11C>G	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1	GUncertain significance
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 2755261	NM_002734.5(PRKAR1A):c.-10C>G	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 856677	NM_002734.5(PRKAR1A):c.-9C>G	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 2056967	NM_002734.5(PRKAR1A):c.-7G>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 959036	NM_002734.5(PRKAR1A):c.-7+1G>C	PRKAR1A	Single nucleotide variant (5 prime UTR variant +2 more)	Carney complex, type 1	GUncertain significance
Select item 12670	NM_002734.5(PRKAR1A):c.-7+1G>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +2 more)	Carney complex, type 1	GUncertain significance
Select item 1099294	NM_002734.5(PRKAR1A):c.-7+3G>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1	GLikely benign
Select item 965629	NM_002734.5(PRKAR1A):c.-7+6_-7+31del	PRKAR1A	Deletion (5 prime UTR variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 1913549	NM_002734.5(PRKAR1A):c.-7+5G>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 1634351	NM_002734.5(PRKAR1A):c.-7+6T>G	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1	GLikely benign
Select item 2094392	NM_002734.5(PRKAR1A):c.-7+7G>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1	GLikely benign
Select item 1953196	NM_002734.5(PRKAR1A):c.-7+7G>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 1593664	NM_002734.5(PRKAR1A):c.-7+7G>C	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1	GLikely benign
Select item 507734	NM_002734.5(PRKAR1A):c.-7+14G>C	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1276360	NM_002734.5(PRKAR1A):c.-6-711A>G	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195295	NM_002734.5(PRKAR1A):c.-6-312C>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 677026	NM_002734.5(PRKAR1A):c.-6-236C>T	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 324780	NM_002734.5(PRKAR1A):c.-6-7C>T	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1 +1 more	GBenign/Likely benign
Select item 700382	NM_002734.5(PRKAR1A):c.-6-5C>T	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 1692715	NM_002734.5(PRKAR1A):c.-6-4G>T	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 697383	NM_002734.5(PRKAR1A):c.-6-4G>C	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 496173	NM_002734.5(PRKAR1A):c.-6-4G>A	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1 +1 more	GBenign/Likely benign
Select item 1190891	NM_002734.5(PRKAR1A):c.-6-2A>G	PRKAR1A	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2576803	NM_002734.5(PRKAR1A):c.-6-1G>A	PRKAR1A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2745566	NM_002734.5(PRKAR1A):c.-6A>G	PRKAR1A	Single nucleotide variant (5 prime UTR variant)	Carney complex, type 1	GUncertain significance
Select item 1750999	NM_002734.5(PRKAR1A):c.-5G>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798648	NM_002734.5(PRKAR1A):c.-2C>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 12669	NM_002734.5(PRKAR1A):c.1A>G (p.Met1Val)	PRKAR1A (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3222769	NM_002734.5(PRKAR1A):c.3G>A (p.Met1Ile)	PRKAR1A (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 649531	NM_002734.5(PRKAR1A):c.4G>C (p.Glu2Gln)	PRKAR1A (E2Q)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2562679	NM_002734.5(PRKAR1A):c.6_11del (p.Glu2_Gly4delinsAsp)	PRKAR1A	Deletion (inframe_indel)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222775	NM_002734.5(PRKAR1A):c.7T>C (p.Ser3Pro)	PRKAR1A (S3P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222779	NM_002734.5(PRKAR1A):c.8C>T (p.Ser3Phe)	PRKAR1A (S3F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2116418	NM_002734.5(PRKAR1A):c.10G>T (p.Gly4Cys)	PRKAR1A (G4C)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 1484243	NM_002734.5(PRKAR1A):c.10_11delinsTT (p.Gly4Phe)	PRKAR1A (G4F)	Indel (missense variant)	Carney complex, type 1	GUncertain significance
Select item 1769335	NM_002734.5(PRKAR1A):c.12C>A (p.Gly4=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 819119	NM_002734.5(PRKAR1A):c.13A>G (p.Ser5Gly)	PRKAR1A (S5G)	Single nucleotide variant (missense variant)	Carney complex, type 1 +1 more	GUncertain significance
Select item 643895	NM_002734.5(PRKAR1A):c.13A>C (p.Ser5Arg)	PRKAR1A (S5R)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance +2 more	GUncertain significance
Select item 424087	NM_002734.5(PRKAR1A):c.15dup (p.Thr6fs)	PRKAR1A (T6fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1127465	NM_002734.5(PRKAR1A):c.15T>C (p.Ser5=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1	GLikely benign
Select item 3309961	NM_002734.5(PRKAR1A):c.16A>G (p.Thr6Ala)	PRKAR1A (T6A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 486163	NM_002734.5(PRKAR1A):c.19G>A (p.Ala7Thr)	PRKAR1A (A7T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1110806	NM_002734.5(PRKAR1A):c.21C>T (p.Ala7=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 820883	NM_002734.5(PRKAR1A):c.21C>A (p.Ala7=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 949669	NM_002734.5(PRKAR1A):c.22G>A (p.Ala8Thr)	PRKAR1A (A8T)	Single nucleotide variant (missense variant)	Carney complex, type 1 +1 more	GUncertain significance
Select item 1061937	NM_002734.5(PRKAR1A):c.23C>T (p.Ala8Val)	PRKAR1A (A8V)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 940740	NM_002734.5(PRKAR1A):c.23C>A (p.Ala8Asp)	PRKAR1A (A8D)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 821373	NM_002734.5(PRKAR1A):c.24C>T (p.Ala8=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 821550	NM_002734.5(PRKAR1A):c.25A>C (p.Ser9Arg)	PRKAR1A (S9R)	Single nucleotide variant (missense variant)	not specified +2 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 2716237	NM_002734.5(PRKAR1A):c.27T>C (p.Ser9=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1	GLikely benign
Select item 633376	NM_002734.5(PRKAR1A):c.27T>G (p.Ser9Arg)	PRKAR1A (S9R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 892466	NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys)	PRKAR1A (E10K)	Single nucleotide variant (missense variant)	Carney complex, type 1 +2 more	GUncertain significance
Select item 1001650	NM_002734.5(PRKAR1A):c.33G>C (p.Glu11Asp)	PRKAR1A (E11D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 660751	NM_002734.5(PRKAR1A):c.35C>G (p.Ala12Gly)	PRKAR1A (A12G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 952943	NM_002734.5(PRKAR1A):c.37C>T (p.Arg13Cys)	PRKAR1A (R13C)	Single nucleotide variant (missense variant)	Carney complex, type 1 +2 more	GUncertain significance
Select item 1394679	NM_002734.5(PRKAR1A):c.38G>A (p.Arg13His)	PRKAR1A (R13H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1736854	NM_002734.5(PRKAR1A):c.39C>G (p.Arg13=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 745419	NM_002734.5(PRKAR1A):c.39C>T (p.Arg13=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1	GLikely benign
Select item 2761406	NM_002734.5(PRKAR1A):c.40A>G (p.Ser14Gly)	PRKAR1A (S14G)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 1140064	NM_002734.5(PRKAR1A):c.42C>T (p.Ser14=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 2693260	NM_002734.5(PRKAR1A):c.43C>T (p.Leu15Phe)	PRKAR1A (L15F)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 1058245	NM_002734.5(PRKAR1A):c.43C>A (p.Leu15Ile)	PRKAR1A (L15I)	Single nucleotide variant (missense variant)	Carney complex, type 1 +1 more	GUncertain significance
Select item 1741043	NM_002734.5(PRKAR1A):c.44T>C (p.Leu15Pro)	PRKAR1A (L15P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2166733	NM_002734.5(PRKAR1A):c.46C>G (p.Arg16Gly)	PRKAR1A (R16G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 1038126	NM_002734.5(PRKAR1A):c.47G>A (p.Arg16Gln)	PRKAR1A (R16Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 825535	NM_002734.5(PRKAR1A):c.51A>T (p.Glu17Asp)	PRKAR1A (E17D)	Single nucleotide variant (missense variant)	Carney complex, type 1 +2 more	GUncertain significance
Select item 536911	NM_002734.5(PRKAR1A):c.54T>C (p.Cys18=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1	GLikely benign
Select item 1567353	NM_002734.5(PRKAR1A):c.57G>A (p.Glu19=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1 +1 more	GLikely benign
Select item 2888136	NM_002734.5(PRKAR1A):c.58C>T (p.Leu20Phe)	PRKAR1A (L20F)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2707745	NM_002734.5(PRKAR1A):c.58C>A (p.Leu20Ile)	PRKAR1A (L20I)	Single nucleotide variant (missense variant)	Carney complex, type 1 +1 more	GUncertain significance
Select item 3020944	NM_002734.5(PRKAR1A):c.59T>C (p.Leu20Pro)	PRKAR1A (L20P)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 826111	NM_002734.5(PRKAR1A):c.59T>G (p.Leu20Arg)	PRKAR1A (L20R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1123531	NM_002734.5(PRKAR1A):c.60C>T (p.Leu20=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1 +1 more	GLikely benign
Select item 469070	NM_002734.5(PRKAR1A):c.60C>G (p.Leu20=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1 +3 more	GLikely benign
Select item 1313482	NM_002734.5(PRKAR1A):c.62A>G (p.Tyr21Cys)	PRKAR1A (Y21C)	Single nucleotide variant (missense variant)	Carney complex, type 1 +2 more	GUncertain significance
Select item 469072	NM_002734.5(PRKAR1A):c.63C>T (p.Tyr21=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1 +3 more	GBenign/Likely benign
Select item 958146	NM_002734.5(PRKAR1A):c.64G>A (p.Val22Ile)	PRKAR1A (V22I)	Single nucleotide variant (missense variant)	Carney complex, type 1 +1 more	GUncertain significance

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