ClinVar for MedGen (Select 388559) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243068	NC_000017.10:g.(?_66506858)_(66511552_?)del	PRKAR1A	Deletion	Carney complex, type 1	GPathogenic
Select item 3243067	NC_000017.10:g.(?_66515268)_(66521884_?)del	PRKAR1A	Deletion	Carney complex, type 1	GPathogenic
Select item 3243066	NC_000017.10:g.(?_66518887)_(66519077_?)del	PRKAR1A	Deletion	Carney complex, type 1	GLikely pathogenic
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 +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 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 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)	Hereditary cancer-predisposing syndrome +1 more	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)	Hereditary cancer-predisposing syndrome +1 more	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 +1 more	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 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 +1 more	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)	Hereditary cancer-predisposing syndrome +1 more	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)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
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 2849358	NM_002734.5(PRKAR1A):c.455C>T (p.Ala152Val)	PRKAR1A (A152V)	Single nucleotide variant (missense variant)	Carney complex, type 1 +1 more	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 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 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 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
Select item 2811133	NM_002734.5(PRKAR1A):c.957G>T (p.Gly319=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1	GLikely benign
Select item 2809735	NM_002734.5(PRKAR1A):c.529A>C (p.Ile177Leu)	PRKAR1A (I177L)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2805134	NM_002734.5(PRKAR1A):c.1048C>T (p.Leu350=)	PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	Carney complex, type 1	GLikely benign
Select item 2795490	NM_002734.5(PRKAR1A):c.716C>T (p.Thr239Ile)	PRKAR1A (T239I)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2794758	NM_002734.5(PRKAR1A):c.348+9G>C	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2790647	NM_002734.5(PRKAR1A):c.780C>G (p.Asp260Glu)	PRKAR1A (D260E)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2788877	NM_002734.5(PRKAR1A):c.709-15T>A	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2780070	NM_002734.5(PRKAR1A):c.332C>T (p.Ala111Val)	PRKAR1A (A111V)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2776324	NM_002734.5(PRKAR1A):c.441-20_441-19del	PRKAR1A	Deletion (intron variant)	Carney complex, type 1	GLikely benign
Select item 2773168	NM_002734.5(PRKAR1A):c.296C>G (p.Ala99Gly)	PRKAR1A (A99G)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2773047	NM_002734.5(PRKAR1A):c.486G>C (p.Glu162Asp)	PRKAR1A (E162D)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2771982	NM_002734.5(PRKAR1A):c.401A>T (p.Lys134Met)	PRKAR1A (K134M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2766352	NM_002734.5(PRKAR1A):c.709-15del	PRKAR1A	Deletion (intron variant)	Carney complex, type 1	GLikely benign
Select item 2763573	NM_002734.5(PRKAR1A):c.769+13G>C	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2762556	NM_002734.5(PRKAR1A):c.708G>A (p.Met236Ile)	PRKAR1A (M236I)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
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 2759974	NM_002734.5(PRKAR1A):c.891+15A>G	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2758725	NM_002734.5(PRKAR1A):c.302G>A (p.Ser101Asn)	PRKAR1A (S101N)	Single nucleotide variant (missense variant)	Carney complex, type 1 +1 more	GUncertain significance
Select item 2755719	NM_002734.5(PRKAR1A):c.349-9C>G	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2755537	NM_002734.5(PRKAR1A):c.1055G>A (p.Arg352Gln)	PRKAR1A (R352Q)	Single nucleotide variant (missense variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 2755424	NM_002734.5(PRKAR1A):c.709-8A>T	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
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 2752845	NM_002734.5(PRKAR1A):c.409C>T (p.Leu137=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1	GLikely benign
Select item 2750354	NM_002734.5(PRKAR1A):c.335C>T (p.Ser112Phe)	PRKAR1A (S112F)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2748958	NM_002734.5(PRKAR1A):c.708+19dup	PRKAR1A	Duplication (intron variant)	Carney complex, type 1	GLikely benign
Select item 2748598	NM_002734.5(PRKAR1A):c.428A>T (p.Asp143Val)	PRKAR1A (D143V)	Single nucleotide variant (missense variant)	Carney complex, type 1	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 2745341	NM_002734.5(PRKAR1A):c.708+4A>G	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2745095	NM_002734.5(PRKAR1A):c.1021G>A (p.Ala341Thr)	PRKAR1A (A341T)	Single nucleotide variant (missense variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 2741267	NM_002734.5(PRKAR1A):c.708+20G>T	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2736640	NM_002734.5(PRKAR1A):c.1118A>G (p.Tyr373Cys)	PRKAR1A (Y373C)	Single nucleotide variant (missense variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 2736639	NM_002734.5(PRKAR1A):c.796dup (p.Thr266fs)	PRKAR1A (T266fs)	Duplication (frameshift variant)	Carney complex, type 1	GPathogenic
Select item 2736638	NM_002734.5(PRKAR1A):c.715A>G (p.Thr239Ala)	PRKAR1A (T239A)	Single nucleotide variant (missense variant)	Carney complex, type 1	GPathogenic
Select item 2734352	NM_002734.5(PRKAR1A):c.1054C>T (p.Arg352Ter)	PRKAR1A (R352*)	Single nucleotide variant (nonsense +1 more)	Carney complex, type 1	GPathogenic
Select item 2733445	NM_002734.5(PRKAR1A):c.987A>G (p.Leu329=)	PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	Carney complex, type 1 +1 more	GLikely benign
Select item 2732915	NM_002734.5(PRKAR1A):c.948A>G (p.Gly316=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1	GLikely benign
Select item 2732670	NM_002734.5(PRKAR1A):c.111G>T (p.Gln37His)	PRKAR1A (Q37H)	Single nucleotide variant (missense variant)	Carney complex, type 1	GUncertain significance
Select item 2730634	NM_002734.5(PRKAR1A):c.440+14C>G	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
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 2726348	NM_002734.5(PRKAR1A):c.441-4G>A	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign
Select item 2724880	NM_002734.5(PRKAR1A):c.550-19G>T	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1	GLikely benign

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