ClinVar for Gene (Select 5573) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3222778	NM_002734.5(PRKAR1A):c.883A>G (p.Ile295Val)	PRKAR1A (I295V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222777	NM_002734.5(PRKAR1A):c.849G>A (p.Val283=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222776	NM_002734.5(PRKAR1A):c.809C>T (p.Ala270Val)	PRKAR1A (A270V)	Single nucleotide variant (missense variant)	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 3222773	NM_002734.5(PRKAR1A):c.75T>G (p.His25Gln)	PRKAR1A (H25Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222772	NM_002734.5(PRKAR1A):c.578G>A (p.Ser193Asn)	PRKAR1A (S193N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222771	NM_002734.5(PRKAR1A):c.572C>A (p.Ala191Glu)	PRKAR1A (A191E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222770	NM_002734.5(PRKAR1A):c.465G>T (p.Ser155=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 3222768	NM_002734.5(PRKAR1A):c.333A>G (p.Ala111=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222767	NM_002734.5(PRKAR1A):c.331G>T (p.Ala111Ser)	PRKAR1A (A111S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222766	NM_002734.5(PRKAR1A):c.290G>A (p.Arg97Gln)	PRKAR1A (R97Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222765	NM_002734.5(PRKAR1A):c.287_290dup (p.Gly98fs)	PRKAR1A (G98fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3222764	NM_002734.5(PRKAR1A):c.259C>T (p.Pro87Ser)	PRKAR1A (P87S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222763	NM_002734.5(PRKAR1A):c.254C>T (p.Pro85Leu)	PRKAR1A (P85L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222762	NM_002734.5(PRKAR1A):c.182A>G (p.Glu61Gly)	PRKAR1A (E61G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222761	NM_002734.5(PRKAR1A):c.177+1G>T	PRKAR1A	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3222760	NM_002734.5(PRKAR1A):c.132G>C (p.Glu44Asp)	PRKAR1A (E44D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222759	NM_002734.5(PRKAR1A):c.122C>T (p.Ala41Val)	PRKAR1A (A41V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222758	NM_002734.5(PRKAR1A):c.1091A>T (p.Asp364Val)	PRKAR1A (D364V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222757	NM_002734.5(PRKAR1A):c.1069C>T (p.Arg357Cys)	PRKAR1A (R357C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222756	NM_002734.5(PRKAR1A):c.1054C>A (p.Arg352=)	PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222755	NM_002734.5(PRKAR1A):c.1044T>C (p.Val348=)	PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3190578	NM_017983.7(WIPI1):c.556G>A (p.Glu186Lys)	ARSG, PRKAR1A +1 more (E104K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190577	NM_017983.7(WIPI1):c.187G>A (p.Val63Met)	ARSG, PRKAR1A +1 more (V63M)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 3190576	NM_017983.7(WIPI1):c.175G>T (p.Asp59Tyr)	ARSG, PRKAR1A +1 more (D59Y)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 3190575	NM_017983.7(WIPI1):c.154C>T (p.His52Tyr)	PRKAR1A, WIPI1 (H52Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190574	NM_017983.7(WIPI1):c.1322G>A (p.Gly441Asp)	ARSG, PRKAR1A +1 more (G441D +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3190573	NM_017983.7(WIPI1):c.1094C>G (p.Thr365Arg)	ARSG, PRKAR1A +1 more (T283R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3092249	NM_017565.4(FAM20A):c.847G>C (p.Gly283Arg)	FAM20A, PRKAR1A (G283R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3092247	NM_017565.4(FAM20A):c.1541T>A (p.Val514Glu)	FAM20A, PRKAR1A (V376E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3063496	GRCh37/hg19 17q24.2-24.3(chr17:66271342-67205346)x3	ABCA10, ABCA6 +7 more	Copy number gain	not specified	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 3048656	NM_001267727.2(ARSG):c.*10T>C	ARSG, PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	ARSG-related disorder	GLikely benign
Select item 3047301	NM_017983.7(WIPI1):c.1152C>T (p.Thr384=)	ARSG, PRKAR1A +1 more	Single nucleotide variant (synonymous variant +2 more)	WIPI1-related disorder	GLikely benign
Select item 3045393	NM_017983.7(WIPI1):c.687G>A (p.Met229Ile)	ARSG, PRKAR1A +1 more (M147I +1 more)	Single nucleotide variant (missense variant +2 more)	WIPI1-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 3021816	NM_002734.5(PRKAR1A):c.1022C>G (p.Ala341Gly)	PRKAR1A (A341G)	Single nucleotide variant (missense variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 3021315	NM_017565.4(FAM20A):c.936C>T (p.Asn312=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 3015285	NM_002734.5(PRKAR1A):c.217A>T (p.Thr73Ser)	PRKAR1A (T73S)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 3004576	NM_017565.4(FAM20A):c.929-13C>T	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003933	NM_002734.5(PRKAR1A):c.440+9A>G	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 3000608	NM_002734.5(PRKAR1A):c.770-12C>A	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2993312	NM_002734.5(PRKAR1A):c.503-8T>C	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2992582	NM_002734.5(PRKAR1A):c.297T>C (p.Ala99=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1	GLikely benign
Select item 2978583	NM_002734.5(PRKAR1A):c.1011C>G (p.Ala337=)	PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	Carney complex, type 1	GLikely benign
Select item 2977696	NM_002734.5(PRKAR1A):c.147C>T (p.Phe49=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1	GLikely benign
Select item 2974633	NM_002734.5(PRKAR1A):c.458T>C (p.Met153Thr)	PRKAR1A (M153T)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2962789	NM_002734.5(PRKAR1A):c.220C>G (p.Arg74Gly)	PRKAR1A (R74G)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2919956	NM_002734.5(PRKAR1A):c.868G>T (p.Asp290Tyr)	PRKAR1A (D290Y)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2919642	NM_002734.5(PRKAR1A):c.503-12A>G	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2919564	NM_002734.5(PRKAR1A):c.744A>G (p.Glu248=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1	GLikely benign
Select item 2915738	NM_002734.5(PRKAR1A):c.131A>G (p.Glu44Gly)	PRKAR1A (E44G)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2914955	NM_002734.5(PRKAR1A):c.117C>T (p.Cys39=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1	GLikely benign
Select item 2912365	NM_002734.5(PRKAR1A):c.402G>C (p.Lys134Asn)	PRKAR1A (K134N)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2910911	NM_002734.5(PRKAR1A):c.493_497delinsGGCCTCTGTAAGGTAAGG (p.Ile165fs)	PRKAR1A (I165fs)	Indel (frameshift variant)	Carney complex, type 1	GPathogenic
Select item 2904408	NM_002734.5(PRKAR1A):c.757G>A (p.Val253Ile)	PRKAR1A (V253I)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2900254	NM_002734.5(PRKAR1A):c.973+18C>T	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2890475	NM_017565.4(FAM20A):c.1572C>T (p.Asp524=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2889863	NM_002734.5(PRKAR1A):c.825G>T (p.Gln275His)	PRKAR1A (Q275H)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
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 2884945	NM_002734.5(PRKAR1A):c.973+20C>A	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2884127	NM_002734.5(PRKAR1A):c.550-8C>A	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2883056	NM_002734.5(PRKAR1A):c.440+11del	PRKAR1A	Deletion (intron variant)	Carney complex, type 1	GLikely benign
Select item 2881409	NM_002734.5(PRKAR1A):c.1120A>G (p.Asn374Asp)	PRKAR1A (N374D)	Single nucleotide variant (missense variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 2878624	NM_002734.5(PRKAR1A):c.440+11G>A	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2876507	NM_002734.5(PRKAR1A):c.585G>A (p.Gly195=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1	GLikely benign
Select item 2876164	NM_002734.5(PRKAR1A):c.348+20A>G	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2873026	NM_002734.5(PRKAR1A):c.709-4T>G	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2872577	NM_002734.5(PRKAR1A):c.195T>G (p.Ile65Met)	PRKAR1A (I65M)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2864303	NM_002734.5(PRKAR1A):c.503-6T>C	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2863724	NM_002734.5(PRKAR1A):c.784T>C (p.Trp262Arg)	PRKAR1A (W262R)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2859393	NM_002734.5(PRKAR1A):c.393C>T (p.Ala131=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1 +1 more	GLikely benign
Select item 2856497	NM_002734.5(PRKAR1A):c.1025G>T (p.Arg342Leu)	PRKAR1A (R342L)	Single nucleotide variant (missense variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 2855996	NM_002734.5(PRKAR1A):c.501A>G (p.Gln167=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1	GUncertain significance
Select item 2855100	NM_002734.5(PRKAR1A):c.902C>T (p.Ala301Val)	PRKAR1A (A301V)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2854602	NM_002734.5(PRKAR1A):c.892-11T>C	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2853601	NM_002734.5(PRKAR1A):c.859G>A (p.Glu287Lys)	PRKAR1A (E287K)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2853032	NM_002734.5(PRKAR1A):c.998del (p.Arg333fs)	PRKAR1A (R333fs)	Deletion (frameshift variant +1 more)	Carney complex, type 1	GPathogenic
Select item 2852504	NM_001267727.2(ARSG):c.1395T>C (p.Ala465=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2849358	NM_002734.5(PRKAR1A):c.455C>T (p.Ala152Val)	PRKAR1A (A152V)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2847625	NM_002734.5(PRKAR1A):c.709-13T>C	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2847153	NM_002734.5(PRKAR1A):c.940G>T (p.Glu314Ter)	PRKAR1A (E314*)	Single nucleotide variant (nonsense)	Carney complex, type 1	GPathogenic
Select item 2846090	NM_017565.4(FAM20A):c.939G>A (p.Val313=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2845167	NM_002734.5(PRKAR1A):c.1040_1041delinsTT (p.Cys347Phe)	PRKAR1A (C347F)	Indel (missense variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 2844055	NM_017565.4(FAM20A):c.1484T>C (p.Leu495Pro)	FAM20A, PRKAR1A (L357P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2837244	NM_002734.5(PRKAR1A):c.809C>G (p.Ala270Gly)	PRKAR1A (A270G)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2833382	NM_002734.5(PRKAR1A):c.550-9G>T	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2831948	NM_001267727.2(ARSG):c.1413_1429del (p.Gly472fs)	ARSG, PRKAR1A (G472fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2824909	NM_002734.5(PRKAR1A):c.974-12T>C	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GUncertain significance
Select item 2822244	NM_002734.5(PRKAR1A):c.918G>C (p.Arg306=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1	GLikely benign
Select item 2821666	NM_002734.5(PRKAR1A):c.1030C>T (p.Pro344Ser)	PRKAR1A (P344S)	Single nucleotide variant (missense variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 2821062	NM_002734.5(PRKAR1A):c.1082C>T (p.Pro361Leu)	PRKAR1A (P361L)	Single nucleotide variant (missense variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 2820863	NM_002734.5(PRKAR1A):c.549+1G>A	PRKAR1A	Single nucleotide variant (splice donor variant)	Carney complex, type 1	GLikely pathogenic
Select item 2819630	NM_002734.5(PRKAR1A):c.899C>G (p.Ala300Gly)	PRKAR1A (A300G)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2818661	NM_002734.5(PRKAR1A):c.502+10T>A	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2818233	NM_002734.5(PRKAR1A):c.243G>A (p.Glu81=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1	GLikely benign
Select item 2817104	NM_002734.5(PRKAR1A):c.769+16T>C	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign

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