ClinVar for MedGen (Select 815843) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023871	NM_006258.4(PRKG1):c.1002-20del	PRKG1	Deletion (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 3021011	NM_006258.4(PRKG1):c.1895+19G>A	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 3018784	NM_006258.4(PRKG1):c.1152A>G (p.Gly384=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 3015091	NM_006258.4(PRKG1):c.1824del (p.Lys608fs)	PRKG1 (K593fs +2 more)	Deletion (frameshift variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 3013028	NM_006258.4(PRKG1):c.1174-16TC[2]	PRKG1	Microsatellite (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 3011598	NM_006258.4(PRKG1):c.721C>T (p.Pro241Ser)	PRKG1 (P241S +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 3008790	NM_006258.4(PRKG1):c.592+12T>G	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 3003161	NM_006258.4(PRKG1):c.1527C>T (p.His509=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 3001576	NM_006258.4(PRKG1):c.1089A>C (p.Glu363Asp)	PRKG1 (E348D +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 3001490	NM_006258.4(PRKG1):c.1162C>T (p.Arg388Ter)	PRKG1 (R373* +1 more)	Single nucleotide variant (nonsense +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2999878	NM_006258.4(PRKG1):c.900A>C (p.Gly300=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2996772	NM_006258.4(PRKG1):c.1161A>G (p.Gly387=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2993611	NM_006258.4(PRKG1):c.729G>A (p.Glu243=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2984933	NM_006258.4(PRKG1):c.1869T>C (p.Asn623=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2982638	NM_006258.4(PRKG1):c.30G>T (p.Ala10=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2978869	NM_006258.4(PRKG1):c.924A>G (p.Lys308=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2973248	NM_006258.4(PRKG1):c.408G>T (p.Pro136=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2968942	NM_006258.4(PRKG1):c.33C>T (p.Leu11=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2965872	NM_006258.4(PRKG1):c.1546-7_1546-6del	PRKG1	Deletion (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2960732	NM_006258.4(PRKG1):c.168C>T (p.Ala56=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2960594	NM_006258.4(PRKG1):c.240C>A (p.Ser80=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2959046	NM_006258.4(PRKG1):c.1738A>G (p.Lys580Glu)	PRKG1 (K565E +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2919782	NM_006258.4(PRKG1):c.1605G>A (p.Gly535=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2919664	NM_006258.4(PRKG1):c.479-14C>T	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2917046	NM_006258.4(PRKG1):c.1159G>A (p.Gly387Arg)	PRKG1 (G387R +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2915689	NM_006258.4(PRKG1):c.982T>A (p.Cys328Ser)	PRKG1 (C313S +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2915365	NM_006258.4(PRKG1):c.478+19A>G	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2913891	NM_006258.4(PRKG1):c.1076+9C>A	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2913563	NM_006258.4(PRKG1):c.699-17T>G	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2904614	NM_006258.4(PRKG1):c.1963-13C>G	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2904334	NM_006258.4(PRKG1):c.1410G>A (p.Ser470=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2902147	NM_006258.4(PRKG1):c.1299C>A (p.Ser433=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2900982	NM_006258.4(PRKG1):c.113T>A (p.Leu38Gln)	PRKG1 (L38Q)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2898784	NM_006258.4(PRKG1):c.714G>T (p.Gln238His)	PRKG1 (Q223H +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2896447	NM_006258.4(PRKG1):c.1962+18C>G	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2895962	NM_006258.4(PRKG1):c.1832+14C>G	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2895533	NM_006258.4(PRKG1):c.1050A>T (p.Ala350=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2894422	NM_006258.4(PRKG1):c.1515C>T (p.Leu505=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2894100	NM_006258.4(PRKG1):c.698+18C>T	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2893620	NM_006258.4(PRKG1):c.1758G>A (p.Leu586=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2887694	NM_006258.4(PRKG1):c.312-13T>C	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2885759	NM_006258.4(PRKG1):c.1187G>A (p.Ser396Asn)	PRKG1 (S381N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2884641	NM_006258.4(PRKG1):c.593-17C>G	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2884294	NM_006258.4(PRKG1):c.1076+15T>C	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2883576	NM_006258.4(PRKG1):c.431G>C (p.Cys144Ser)	PRKG1 (C144S +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2879930	NM_006258.4(PRKG1):c.206A>C (p.Gln69Pro)	PRKG1 (Q69P)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2871117	NM_006258.4(PRKG1):c.1791G>A (p.Lys597=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2865256	NM_006258.4(PRKG1):c.1962+20T>A	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2862162	NM_006258.4(PRKG1):c.1659A>T (p.Ser553=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2859853	NM_006258.4(PRKG1):c.284C>T (p.Thr95Ile)	PRKG1 (T95I)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2859154	NM_006258.4(PRKG1):c.614G>C (p.Trp205Ser)	PRKG1 (W190S +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2845000	NM_006258.4(PRKG1):c.1895+13T>C	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2843701	NM_006258.4(PRKG1):c.762+20G>A	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2843403	NM_006258.4(PRKG1):c.763-5T>G	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2842640	NM_006258.4(PRKG1):c.410T>C (p.Val137Ala)	PRKG1 (V122A +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2841129	NM_006258.4(PRKG1):c.1122T>C (p.Asp374=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2829414	NM_006258.4(PRKG1):c.227G>C (p.Arg76Pro)	PRKG1 (R76P)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2826980	NM_006258.4(PRKG1):c.1102G>C (p.Ala368Pro)	PRKG1 (A368P +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2824925	NM_006258.4(PRKG1):c.1076+17_1076+18insGTTGGCC	PRKG1	Insertion (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2822428	NM_006258.4(PRKG1):c.935+7A>T	PRKG1	Single nucleotide variant (intron variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2814368	NM_006258.4(PRKG1):c.85G>C (p.Glu29Gln)	PRKG1 (E29Q)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2814244	NM_006258.4(PRKG1):c.1642A>C (p.Lys548Gln)	PRKG1 (K533Q +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2812572	NM_006258.4(PRKG1):c.1277A>G (p.Gln426Arg)	PRKG1 (Q23R +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2809978	NM_006258.4(PRKG1):c.592+19T>A	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2804710	NM_006258.4(PRKG1):c.762+3A>C	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2804106	NM_006258.4(PRKG1):c.1404-16C>A	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2803126	NM_006258.4(PRKG1):c.1099T>C (p.Phe367Leu)	PRKG1 (F367L +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2801966	NM_006258.4(PRKG1):c.645A>T (p.Ile215=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2796469	NM_006258.4(PRKG1):c.1163G>A (p.Arg388Gln)	PRKG1 (R388Q +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2792530	NM_006258.4(PRKG1):c.311+15C>G	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2792255	NM_006258.4(PRKG1):c.31C>T (p.Leu11Phe)	PRKG1 (L11F)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2790021	NM_006258.4(PRKG1):c.1077-17dup	PRKG1	Duplication (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2788256	NM_006258.4(PRKG1):c.593-8T>C	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2776399	NM_006258.4(PRKG1):c.846T>C (p.Asn282=)	PRKG1	Single nucleotide variant (5 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2764588	NM_006258.4(PRKG1):c.592+19T>G	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2760739	NM_006258.4(PRKG1):c.1997G>A (p.Ser666Asn)	PRKG1 (S263N +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2760562	NM_006258.4(PRKG1):c.189G>C (p.Gln63His)	PRKG1 (Q63H)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2745634	NM_006258.4(PRKG1):c.1236T>C (p.Ile412=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2744878	NM_006258.4(PRKG1):c.665T>A (p.Ile222Asn)	PRKG1 (I207N +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2743569	NM_006258.4(PRKG1):c.698+13C>A	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2742844	NM_006258.4(PRKG1):c.1141C>G (p.Leu381Val)	PRKG1 (L366V +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2742535	NM_006258.4(PRKG1):c.834A>G (p.Lys278=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2742336	NM_006258.4(PRKG1):c.648G>C (p.Met216Ile)	PRKG1 (M201I +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2739933	NM_006258.4(PRKG1):c.526G>A (p.Gly176Ser)	PRKG1 (G161S +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2731752	NM_006258.4(PRKG1):c.593-19C>T	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2730295	NM_006258.4(PRKG1):c.479-12C>T	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2729610	NM_006258.4(PRKG1):c.763-20T>G	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2727181	NM_006258.4(PRKG1):c.1832+11C>T	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2727168	NM_006258.4(PRKG1):c.841-20T>C	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2727160	NM_006258.4(PRKG1):c.2007G>A (p.Glu669=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2722511	NM_006258.4(PRKG1):c.1896-18C>T	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2722506	NM_006258.4(PRKG1):c.819C>T (p.Phe273=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2722149	NM_006258.4(PRKG1):c.194C>A (p.Ala65Glu)	PRKG1 (A65E)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2721472	NM_006258.4(PRKG1):c.840G>A (p.Thr280=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2718590	NM_006258.4(PRKG1):c.1546-11C>T	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2716636	NM_006258.4(PRKG1):c.1546-15T>C	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2702527	NM_006258.4(PRKG1):c.905G>A (p.Gly302Glu)	PRKG1 (G302E +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2697367	NM_006258.4(PRKG1):c.699-1G>A	PRKG1	Single nucleotide variant (splice acceptor variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2694437	NM_006258.4(PRKG1):c.840+17C>T	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2640476	NM_006258.4(PRKG1):c.1584G>A (p.Lys528=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign

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