ClinVar for MedGen (Select 815843) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24255471.	NC_000010.10:g.(?_53227463)_(53769653_?)dup GRCh37: Chr10:53227463-53769653	PRKG1, CSTF2T		Aortic aneurysm, familial thoracic 8	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 24255462.	NC_000010.10:g.(?_52834351)_(53227616_?)dup GRCh37: Chr10:52834351-53227616	PRKG1		Aortic aneurysm, familial thoracic 8	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 24255453.	NC_000010.10:g.(?_54053542)_(54053660_?)dup GRCh37: Chr10:54053542-54053660	PRKG1		Aortic aneurysm, familial thoracic 8	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 24255444.	NC_000010.10:g.(?_54049964)_(54053660_?)del GRCh37: Chr10:54049964-54053660	PRKG1		Aortic aneurysm, familial thoracic 8	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 24203815.	NM_006258.4(PRKG1):c.1173+12T>C GRCh37: Chr10:54011438 GRCh38: Chr10:52251678	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 22022506.	NM_006258.4(PRKG1):c.573C>T (p.Thr191=) GRCh37: Chr10:53227577 GRCh38: Chr10:51467817	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 22001217.	NM_006258.4(PRKG1):c.2037C>G (p.Asn679Lys) GRCh37: Chr10:54053636 GRCh38: Chr10:52293876	PRKG1	N276K, N664K, N679K	Aortic aneurysm, familial thoracic 8	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 21995068.	NM_006258.4(PRKG1):c.1896A>G (p.Lys632=) GRCh37: Chr10:54049984 GRCh38: Chr10:52290224	PRKG1		Aortic aneurysm, familial thoracic 8	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 21988339.	NM_006258.4(PRKG1):c.1529G>A (p.Arg510Gln) GRCh37: Chr10:54040674 GRCh38: Chr10:52280914	PRKG1	R107Q, R495Q, R510Q	Aortic aneurysm, familial thoracic 8	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 219662010.	NM_006258.4(PRKG1):c.2004T>G (p.Pro668=) GRCh37: Chr10:54053603 GRCh38: Chr10:52293843	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 219590911.	NM_006258.4(PRKG1):c.135G>A (p.Glu45=) GRCh37: Chr10:52834485 GRCh38: Chr10:51074725	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 219448512.	NM_006258.4(PRKG1):c.304A>G (p.Ser102Gly) GRCh37: Chr10:52834654 GRCh38: Chr10:51074894	PRKG1	S102G	Aortic aneurysm, familial thoracic 8	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 217370013.	NM_006258.4(PRKG1):c.406C>T (p.Pro136Ser) GRCh37: Chr10:52913018 GRCh38: Chr10:51153258	PRKG1	P121S, P136S	Aortic aneurysm, familial thoracic 8	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 217224614.	NM_006258.4(PRKG1):c.478+14C>A GRCh37: Chr10:52913104 GRCh38: Chr10:51153344	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Feb 26, 2022)	criteria provided, single submitter
Select item 217184315.	NM_006258.4(PRKG1):c.2041G>A (p.Gly681Arg) GRCh37: Chr10:54053640 GRCh38: Chr10:52293880	PRKG1	G666R, G278R, G681R	Aortic aneurysm, familial thoracic 8	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 216476216.	NM_006258.4(PRKG1):c.765C>G (p.Thr255=) GRCh37: Chr10:53814246 GRCh38: Chr10:52054486	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 215049217.	NM_006258.4(PRKG1):c.1174G>A (p.Val392Ile) GRCh37: Chr10:54031110 GRCh38: Chr10:52271350	PRKG1	V377I, V392I	Aortic aneurysm, familial thoracic 8	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215045518.	NM_006258.4(PRKG1):c.213G>A (p.Glu71=) GRCh37: Chr10:52834563 GRCh38: Chr10:51074803	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 214549219.	NM_006258.4(PRKG1):c.1962+9A>T GRCh37: Chr10:54050059 GRCh38: Chr10:52290299	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 214544620.	NM_006258.4(PRKG1):c.1545+17C>T GRCh37: Chr10:54040707 GRCh38: Chr10:52280947	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 212552621.	NM_006258.4(PRKG1):c.206A>G (p.Gln69Arg) GRCh37: Chr10:52834556 GRCh38: Chr10:51074796	PRKG1	Q69R	Aortic aneurysm, familial thoracic 8	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 212263422.	NM_006258.4(PRKG1):c.600A>G (p.Val200=) GRCh37: Chr10:53564352 GRCh38: Chr10:51804592	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 212014223.	NM_006258.4(PRKG1):c.840+3A>G GRCh37: Chr10:53814324 GRCh38: Chr10:52054564	PRKG1		Aortic aneurysm, familial thoracic 8	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 211092124.	NM_006258.4(PRKG1):c.214C>A (p.Pro72Thr) GRCh37: Chr10:52834564 GRCh38: Chr10:51074804	PRKG1	P72T	Aortic aneurysm, familial thoracic 8	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 210320825.	NM_006258.4(PRKG1):c.214C>G (p.Pro72Ala) GRCh37: Chr10:52834564 GRCh38: Chr10:51074804	PRKG1	P72A	Aortic aneurysm, familial thoracic 8	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 210219626.	NM_006258.4(PRKG1):c.306C>G (p.Ser102Arg) GRCh37: Chr10:52834656 GRCh38: Chr10:51074896	PRKG1	S102R	Aortic aneurysm, familial thoracic 8	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 210105827.	NM_006258.4(PRKG1):c.61C>G (p.Arg21Gly) GRCh37: Chr10:52834411 GRCh38: Chr10:51074651	PRKG1	R21G	Aortic aneurysm, familial thoracic 8	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209846428.	NM_006258.4(PRKG1):c.307C>T (p.Pro103Ser) GRCh37: Chr10:52834657 GRCh38: Chr10:51074897	PRKG1	P103S	Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jan 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 208827529.	NM_006258.4(PRKG1):c.420C>G (p.Gly140=) GRCh37: Chr10:52913032 GRCh38: Chr10:51153272	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 208545630.	NM_006258.4(PRKG1):c.508G>A (p.Val170Met) GRCh37: Chr10:53227512 GRCh38: Chr10:51467752	PRKG1	V155M, V170M	Aortic aneurysm, familial thoracic 8	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 208433231.	NM_006258.4(PRKG1):c.1034A>C (p.Asp345Ala) GRCh37: Chr10:53921681 GRCh38: Chr10:52161921	PRKG1	D345A, D330A	Aortic aneurysm, familial thoracic 8	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 208295132.	NM_006258.4(PRKG1):c.700G>A (p.Val234Ile) GRCh37: Chr10:53667268 GRCh38: Chr10:51907508	PRKG1	V234I, V219I	Aortic aneurysm, familial thoracic 8	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 208073233.	NM_006258.4(PRKG1):c.1404-17C>A GRCh37: Chr10:54040532 GRCh38: Chr10:52280772	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 207234334.	NM_006258.4(PRKG1):c.2026C>T (p.Pro676Ser) GRCh37: Chr10:54053625 GRCh38: Chr10:52293865	PRKG1	P661S, P676S, P273S	Aortic aneurysm, familial thoracic 8, Inborn genetic diseases	Uncertain significance (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 205098135.	NM_006258.4(PRKG1):c.58C>T (p.Gln20Ter) GRCh37: Chr10:52834408 GRCh38: Chr10:51074648	PRKG1	Q20*	Aortic aneurysm, familial thoracic 8	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 204886936.	NM_006258.4(PRKG1):c.1173+14C>T GRCh37: Chr10:54011440 GRCh38: Chr10:52251680	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 204479837.	NM_006258.4(PRKG1):c.1094C>A (p.Ala365Asp) GRCh37: Chr10:54011347 GRCh38: Chr10:52251587	PRKG1	A365D, A350D	Aortic aneurysm, familial thoracic 8	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 204370038.	NM_006258.4(PRKG1):c.698+3A>G GRCh37: Chr10:53564453 GRCh38: Chr10:51804693	PRKG1		Aortic aneurysm, familial thoracic 8	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 203848039.	NM_006258.4(PRKG1):c.1696C>T (p.Leu566Phe) GRCh37: Chr10:54042063 GRCh38: Chr10:52282303	PRKG1	L163F, L566F, L551F	Aortic aneurysm, familial thoracic 8	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 203414240.	NM_006258.4(PRKG1):c.735C>T (p.Leu245=) GRCh37: Chr10:53667303 GRCh38: Chr10:51907543	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 203414141.	NM_006258.4(PRKG1):c.732C>T (p.Ile244=) GRCh37: Chr10:53667300 GRCh38: Chr10:51907540	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 202857542.	NM_006258.4(PRKG1):c.831C>T (p.Ser277=) GRCh37: Chr10:53814312 GRCh38: Chr10:52054552	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 202654343.	NM_006258.4(PRKG1):c.1599T>C (p.Phe533=) GRCh37: Chr10:54041966 GRCh38: Chr10:52282206	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 200872944.	NM_006258.4(PRKG1):c.841-3C>A GRCh37: Chr10:53822294 GRCh38: Chr10:52062534	PRKG1		Aortic aneurysm, familial thoracic 8	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 200641245.	NM_006258.4(PRKG1):c.372G>A (p.Leu124=) GRCh37: Chr10:52912984 GRCh38: Chr10:51153224	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 200248546.	NM_006258.4(PRKG1):c.1588A>T (p.Thr530Ser) GRCh37: Chr10:54041955 GRCh38: Chr10:52282195	PRKG1	T515S, T127S, T530S	Aortic aneurysm, familial thoracic 8	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 199874547.	NM_006258.4(PRKG1):c.2051T>C (p.Ile684Thr) GRCh37: Chr10:54053650 GRCh38: Chr10:52293890	PRKG1	I684T, I669T, I281T	Aortic aneurysm, familial thoracic 8	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 199432848.	NM_006258.4(PRKG1):c.525G>A (p.Met175Ile) GRCh37: Chr10:53227529 GRCh38: Chr10:51467769	PRKG1	M175I, M160I	Aortic aneurysm, familial thoracic 8	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 199034249.	NM_006258.4(PRKG1):c.1801A>T (p.Asn601Tyr) GRCh37: Chr10:54048577 GRCh38: Chr10:52288817	PRKG1	N586Y, N601Y, N198Y	Aortic aneurysm, familial thoracic 8, Inborn genetic diseases	Uncertain significance (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 197727750.	NM_006258.4(PRKG1):c.1545+20G>C GRCh37: Chr10:54040710 GRCh38: Chr10:52280950	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 197375751.	NM_006258.4(PRKG1):c.933G>A (p.Gln311=) GRCh37: Chr10:53822389 GRCh38: Chr10:52062629	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 196967752.	NM_006258.4(PRKG1):c.254C>T (p.Ala85Val) GRCh37: Chr10:52834604 GRCh38: Chr10:51074844	PRKG1	A85V	Aortic aneurysm, familial thoracic 8	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 195998553.	NM_006258.4(PRKG1):c.1076+14_1076+15del GRCh37: Chr10:53921733-53921734 GRCh38: Chr10:52161973-52161974	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 194319154.	NM_006258.4(PRKG1):c.700G>T (p.Val234Phe) GRCh37: Chr10:53667268 GRCh38: Chr10:51907508	PRKG1	V219F, V234F	Aortic aneurysm, familial thoracic 8	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 194296655.	NM_006258.4(PRKG1):c.1960A>C (p.Ser654Arg) GRCh37: Chr10:54050048 GRCh38: Chr10:52290288	PRKG1	S251R, S639R, S654R	Aortic aneurysm, familial thoracic 8	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 194072456.	NM_006258.4(PRKG1):c.240C>T (p.Ser80=) GRCh37: Chr10:52834590 GRCh38: Chr10:51074830	PRKG1		Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 8	Likely benign (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 192484257.	NM_006258.4(PRKG1):c.723T>C (p.Pro241=) GRCh37: Chr10:53667291 GRCh38: Chr10:51907531	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 191040958.	NM_006258.4(PRKG1):c.129G>A (p.Gln43=) GRCh37: Chr10:52834479 GRCh38: Chr10:51074719	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 191040859.	NM_006258.4(PRKG1):c.111A>G (p.Glu37=) GRCh37: Chr10:52834461 GRCh38: Chr10:51074701	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 190725060.	NM_006258.4(PRKG1):c.593-2A>C GRCh37: Chr10:53564343 GRCh38: Chr10:51804583	PRKG1		Aortic aneurysm, familial thoracic 8	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 190009061.	NM_006258.4(PRKG1):c.936-3T>C GRCh37: Chr10:53893597 GRCh38: Chr10:52133837	PRKG1		Aortic aneurysm, familial thoracic 8	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 189747362.	NM_006258.4(PRKG1):c.202T>A (p.Leu68Met) GRCh37: Chr10:52834552 GRCh38: Chr10:51074792	PRKG1	L68M	Aortic aneurysm, familial thoracic 8	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 178943063.	NM_006258.4(PRKG1):c.1091C>T (p.Ala364Val) GRCh37: Chr10:54011344 GRCh38: Chr10:52251584	PRKG1	A349V, A364V	Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178219264.	NM_006258.4(PRKG1):c.1067C>T (p.Ala356Val) GRCh37: Chr10:53921714 GRCh38: Chr10:52161954	PRKG1	A341V, A356V	Familial thoracic aortic aneurysm and aortic dissection, not provided, Aortic aneurysm, familial thoracic 8	Uncertain significance (Feb 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 175352165.	NM_006258.4(PRKG1):c.643A>G (p.Ile215Val) GRCh37: Chr10:53564395 GRCh38: Chr10:51804635	PRKG1	I200V, I215V	Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 8	Uncertain significance (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174509566.	NM_006258.4(PRKG1):c.505G>A (p.Gly169Ser) GRCh37: Chr10:53227509 GRCh38: Chr10:51467749	PRKG1	G154S, G169S	Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 8	Uncertain significance (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171982867.	NM_006258.4(PRKG1):c.1049C>G (p.Ala350Gly) GRCh37: Chr10:53921696 GRCh38: Chr10:52161936	PRKG1	A335G, A350G	Aortic aneurysm, familial thoracic 8	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 167740768.	NM_006258.4(PRKG1):c.378G>C (p.Gln126His) GRCh37: Chr10:52912990 GRCh38: Chr10:51153230	PRKG1	Q111H, Q126H	Aortic aneurysm, familial thoracic 8, not provided	Uncertain significance (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166991969.	NM_006258.4(PRKG1):c.1611A>C (p.Pro537=) GRCh37: Chr10:54041978 GRCh38: Chr10:52282218	PRKG1		Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166359670.	NM_006258.4(PRKG1):c.312-35146C>T GRCh37: Chr10:52877778 GRCh38: Chr10:51118018	PRKG1		Aortic aneurysm, familial thoracic 8	Benign (Nov 3, 2022)	criteria provided, single submitter
Select item 165769271.	NM_006258.4(PRKG1):c.1963-15G>A GRCh37: Chr10:54053547 GRCh38: Chr10:52293787	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Mar 25, 2021)	criteria provided, single submitter
Select item 165536772.	NM_006258.4(PRKG1):c.861C>T (p.Asp287=) GRCh37: Chr10:53822317 GRCh38: Chr10:52062557	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Mar 23, 2021)	criteria provided, single submitter
Select item 165408473.	NM_006258.4(PRKG1):c.1536T>C (p.Tyr512=) GRCh37: Chr10:54040681 GRCh38: Chr10:52280921	PRKG1		Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Dec 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165200774.	NM_006258.4(PRKG1):c.600A>C (p.Val200=) GRCh37: Chr10:53564352 GRCh38: Chr10:51804592	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 164786975.	NM_006258.4(PRKG1):c.1833-17C>A GRCh37: Chr10:54048674 GRCh38: Chr10:52288914	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Sep 23, 2021)	criteria provided, single submitter
Select item 163922176.	NM_006258.4(PRKG1):c.945G>A (p.Val315=) GRCh37: Chr10:53893609 GRCh38: Chr10:52133849	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Sep 28, 2021)	criteria provided, single submitter
Select item 163501777.	NM_006258.4(PRKG1):c.189G>A (p.Gln63=) GRCh37: Chr10:52834539 GRCh38: Chr10:51074779	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Aug 18, 2021)	criteria provided, single submitter
Select item 163161278.	NM_006258.4(PRKG1):c.216G>A (p.Pro72=) GRCh37: Chr10:52834566 GRCh38: Chr10:51074806	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Jun 22, 2021)	criteria provided, single submitter
Select item 162914279.	NM_006258.4(PRKG1):c.771T>C (p.Tyr257=) GRCh37: Chr10:53814252 GRCh38: Chr10:52054492	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Jan 27, 2021)	criteria provided, single submitter
Select item 162393480.	NM_006258.4(PRKG1):c.1644A>G (p.Lys548=) GRCh37: Chr10:54042011 GRCh38: Chr10:52282251	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Oct 27, 2021)	criteria provided, single submitter
Select item 162348581.	NM_006258.4(PRKG1):c.1077-12C>A GRCh37: Chr10:54011318 GRCh38: Chr10:52251558	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (May 17, 2021)	criteria provided, single submitter
Select item 162024782.	NM_006258.4(PRKG1):c.763-8C>T GRCh37: Chr10:53814236 GRCh38: Chr10:52054476	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Apr 4, 2021)	criteria provided, single submitter
Select item 161733183.	NM_006258.4(PRKG1):c.459A>G (p.Ser153=) GRCh37: Chr10:52913071 GRCh38: Chr10:51153311	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Nov 14, 2021)	criteria provided, single submitter
Select item 161573784.	NM_006258.4(PRKG1):c.841-17A>G GRCh37: Chr10:53822280 GRCh38: Chr10:52062520	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Dec 10, 2021)	criteria provided, single submitter
Select item 161542185.	NM_006258.4(PRKG1):c.936-20T>C GRCh37: Chr10:53893580 GRCh38: Chr10:52133820	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Nov 7, 2021)	criteria provided, single submitter
Select item 161482486.	NM_006258.4(PRKG1):c.1403+9T>C GRCh37: Chr10:54032250 GRCh38: Chr10:52272490	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Nov 2, 2021)	criteria provided, single submitter
Select item 161389187.	NM_006258.4(PRKG1):c.1313+7G>T GRCh37: Chr10:54031256 GRCh38: Chr10:52271496	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Apr 27, 2021)	criteria provided, single submitter
Select item 161209888.	NM_006258.4(PRKG1):c.1692T>C (p.Tyr564=) GRCh37: Chr10:54042059 GRCh38: Chr10:52282299	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Nov 19, 2021)	criteria provided, single submitter
Select item 160466489.	NM_006258.4(PRKG1):c.1709+17G>A GRCh37: Chr10:54042093 GRCh38: Chr10:52282333	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (May 9, 2021)	criteria provided, single submitter
Select item 160416090.	NM_006258.4(PRKG1):c.1002-12T>C GRCh37: Chr10:53921637 GRCh38: Chr10:52161877	PRKG1		Aortic aneurysm, familial thoracic 8	Benign (Nov 3, 2022)	criteria provided, single submitter
Select item 159895891.	NM_006258.4(PRKG1):c.1076+15del GRCh37: Chr10:53921733 GRCh38: Chr10:52161973	PRKG1		Aortic aneurysm, familial thoracic 8	Benign (Sep 15, 2021)	criteria provided, single submitter
Select item 159508692.	NM_006258.4(PRKG1):c.311+15C>T GRCh37: Chr10:52834676 GRCh38: Chr10:51074916	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 158357293.	NM_006258.4(PRKG1):c.1725C>A (p.Gly575=) GRCh37: Chr10:54048501 GRCh38: Chr10:52288741	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 158021694.	NM_006258.4(PRKG1):c.1332G>A (p.Lys444=) GRCh37: Chr10:54032170 GRCh38: Chr10:52272410	PRKG1		Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Feb 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157321495.	NM_006258.4(PRKG1):c.180G>A (p.Ala60=) GRCh37: Chr10:52834530 GRCh38: Chr10:51074770	PRKG1		Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 8	Likely benign (Nov 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 156946396.	NM_006258.4(PRKG1):c.51G>A (p.Glu17=) GRCh37: Chr10:52834401 GRCh38: Chr10:51074641	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (May 5, 2021)	criteria provided, single submitter
Select item 156173297.	NM_006258.4(PRKG1):c.1077-20T>C GRCh37: Chr10:54011310 GRCh38: Chr10:52251550	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Oct 7, 2021)	criteria provided, single submitter
Select item 155518898.	NM_006258.4(PRKG1):c.243C>G (p.Ala81=) GRCh37: Chr10:52834593 GRCh38: Chr10:51074833	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Oct 31, 2021)	criteria provided, single submitter
Select item 154534199.	NM_006258.4(PRKG1):c.763-44591A>G GRCh37: Chr10:53769653 GRCh38: Chr10:52009893	PRKG1		Aortic aneurysm, familial thoracic 8	Benign (Nov 3, 2022)	criteria provided, single submitter
Select item 1542844100.	NM_006258.4(PRKG1):c.52C>T (p.Leu18=) GRCh37: Chr10:52834402 GRCh38: Chr10:51074642	PRKG1		Aortic aneurysm, familial thoracic 8	Likely benign (Feb 16, 2021)	criteria provided, single submitter

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