"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PRKG1"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1156665	NM_006258.4(PRKG1):c.13C>A (p.Arg5=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 544061	NM_006258.4(PRKG1):c.15G>T (p.Arg5=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 509633	NM_006258.4(PRKG1):c.27C>T (p.Tyr9=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +2 more	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 414276	NM_006258.4(PRKG1):c.30G>A (p.Ala10=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
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 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 702744	NM_006258.4(PRKG1):c.36G>A (p.Gln12=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 240641	NM_006258.4(PRKG1):c.39G>A (p.Glu13=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1569463	NM_006258.4(PRKG1):c.51G>A (p.Glu17=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 1542844	NM_006258.4(PRKG1):c.52C>T (p.Leu18=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2050981	NM_006258.4(PRKG1):c.58C>T (p.Gln20Ter)	PRKG1 (Q20*)	Single nucleotide variant (nonsense +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2101058	NM_006258.4(PRKG1):c.61C>G (p.Arg21Gly)	PRKG1 (R21G)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 520132	NM_006258.4(PRKG1):c.63G>A (p.Arg21=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +2 more	GLikely benign
Select item 707648	NM_006258.4(PRKG1):c.69T>G (p.Ala23=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 742629	NM_006258.4(PRKG1):c.72C>G (p.Leu24=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 1352452	NM_006258.4(PRKG1):c.75C>A (p.Ile25=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GConflicting classifications of pathogenicity
Select item 999214	NM_006258.4(PRKG1):c.79G>C (p.Glu27Gln)	PRKG1 (E27Q)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
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 705645	NM_006258.4(PRKG1):c.94T>C (p.Leu32=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 742630	NM_006258.4(PRKG1):c.99T>C (p.Asp33=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1910408	NM_006258.4(PRKG1):c.111A>G (p.Glu37=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	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 508898	NM_006258.4(PRKG1):c.114G>C (p.Leu38=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 508033	NM_006258.4(PRKG1):c.123G>A (p.Lys41=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1910409	NM_006258.4(PRKG1):c.129G>A (p.Gln43=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 1134109	NM_006258.4(PRKG1):c.132C>T (p.Asn44=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 2195909	NM_006258.4(PRKG1):c.135G>A (p.Glu45=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 1145177	NM_006258.4(PRKG1):c.147C>T (p.Tyr49=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 511414	NM_006258.4(PRKG1):c.153G>C (p.Ser51=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1454584	NM_006258.4(PRKG1):c.156G>A (p.Val52=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 1051422	NM_006258.4(PRKG1):c.160C>G (p.Arg54Gly)	PRKG1 (R54G)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	GUncertain significance
Select item 1079874	NM_006258.4(PRKG1):c.162A>G (p.Arg54=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 1099305	NM_006258.4(PRKG1):c.165A>C (p.Pro55=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 680446	NM_006258.4(PRKG1):c.165A>T (p.Pro55=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +2 more	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 1491675	NM_006258.4(PRKG1):c.170C>T (p.Thr57Ile)	PRKG1 (T57I)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 705646	NM_006258.4(PRKG1):c.171C>G (p.Thr57=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 1573214	NM_006258.4(PRKG1):c.180G>A (p.Ala60=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 2760562	NM_006258.4(PRKG1):c.189G>C (p.Gln63His)	PRKG1 (Q63H)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1635017	NM_006258.4(PRKG1):c.189G>A (p.Gln63=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 1379285	NM_006258.4(PRKG1):c.191G>C (p.Ser64Thr)	PRKG1 (S64T)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	GUncertain significance
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 544059	NM_006258.4(PRKG1):c.195G>A (p.Ala65=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 697547	NM_006258.4(PRKG1):c.197G>T (p.Ser66Ile)	PRKG1 (S66I)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 1897473	NM_006258.4(PRKG1):c.202T>A (p.Leu68Met)	PRKG1 (L68M)	Single nucleotide variant (missense variant +1 more)	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 2125526	NM_006258.4(PRKG1):c.206A>G (p.Gln69Arg)	PRKG1 (Q69R)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2150455	NM_006258.4(PRKG1):c.213G>A (p.Glu71=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 2110921	NM_006258.4(PRKG1):c.214C>A (p.Pro72Thr)	PRKG1 (P72T)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2103208	NM_006258.4(PRKG1):c.214C>G (p.Pro72Ala)	PRKG1 (P72A)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 1631612	NM_006258.4(PRKG1):c.216G>A (p.Pro72=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 681040	NM_006258.4(PRKG1):c.226C>A (p.Arg76=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +2 more	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 1470454	NM_006258.4(PRKG1):c.230A>G (p.Gln77Arg)	PRKG1 (Q77R)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 1381671	NM_006258.4(PRKG1):c.232G>A (p.Ala78Thr)	PRKG1 (A78T)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 1490188	NM_006258.4(PRKG1):c.237C>T (p.Ile79=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	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 1940724	NM_006258.4(PRKG1):c.240C>T (p.Ser80=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 1555188	NM_006258.4(PRKG1):c.243C>G (p.Ala81=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 799672	NM_006258.4(PRKG1):c.252C>T (p.Thr84=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 1969677	NM_006258.4(PRKG1):c.254C>T (p.Ala85Val)	PRKG1 (A85V)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 1078691	NM_006258.4(PRKG1):c.261C>T (p.Asp87=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	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 1305536	NM_006258.4(PRKG1):c.299C>G (p.Pro100Arg)	PRKG1 (P100R)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 2194485	NM_006258.4(PRKG1):c.304A>G (p.Ser102Gly)	PRKG1 (S102G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2102196	NM_006258.4(PRKG1):c.306C>G (p.Ser102Arg)	PRKG1 (S102R)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 2098464	NM_006258.4(PRKG1):c.307C>T (p.Pro103Ser)	PRKG1 (P103S)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	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 1595086	NM_006258.4(PRKG1):c.311+15C>T	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 1663596	NM_006258.4(PRKG1):c.312-35146C>T	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8	GBenign
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 506592	NM_006258.4(PRKG1):c.312-12C>G	PRKG1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 8 +1 more	GBenign/Likely benign
Select item 561327	NM_006258.4(PRKG1):c.314C>T (p.Ser105Phe)	PRKG1 (S105F +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8 +2 more	GUncertain significance
Select item 953621	NM_006258.4(PRKG1):c.319G>A (p.Asp107Asn)	PRKG1 (D92N +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8 +1 more	GUncertain significance
Select item 477777	NM_006258.4(PRKG1):c.319G>C (p.Asp107His)	PRKG1 (D107H +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8 +3 more	GUncertain significance
Select item 520139	NM_006258.4(PRKG1):c.321T>C (p.Asp107=)	PRKG1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2006412	NM_006258.4(PRKG1):c.372G>A (p.Leu124=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 1098013	NM_006258.4(PRKG1):c.375G>T (p.Ser125=)	PRKG1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 544062	NM_006258.4(PRKG1):c.375G>A (p.Ser125=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 1677407	NM_006258.4(PRKG1):c.378G>C (p.Gln126His)	PRKG1 (Q111H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 451745	NM_006258.4(PRKG1):c.395A>G (p.Asp132Gly)	PRKG1 (D117G +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 2173700	NM_006258.4(PRKG1):c.406C>T (p.Pro136Ser)	PRKG1 (P121S +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 576784	NM_006258.4(PRKG1):c.407C>T (p.Pro136Leu)	PRKG1 (P121L +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
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 220801	NM_006258.4(PRKG1):c.408G>A (p.Pro136=)	PRKG1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 2088275	NM_006258.4(PRKG1):c.420C>G (p.Gly140=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 477778	NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln)	PRKG1 (K126Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 240642	NM_006258.4(PRKG1):c.426C>T (p.Asp142=)	PRKG1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely 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 948623	NM_006258.4(PRKG1):c.431G>A (p.Cys144Tyr)	PRKG1 (C129Y +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8 +1 more	GUncertain significance
Select item 1127066	NM_006258.4(PRKG1):c.432C>T (p.Cys144=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 644970	NM_006258.4(PRKG1):c.444_449dup (p.Glu148_Gly149dup)	PRKG1	Duplication (inframe_insertion)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 544057	NM_006258.4(PRKG1):c.449A>C (p.Asp150Ala)	PRKG1 (D135A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 701423	NM_006258.4(PRKG1):c.450C>T (p.Asp150=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8 +2 more	GLikely benign
Select item 1617331	NM_006258.4(PRKG1):c.459A>G (p.Ser153=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 1534315	NM_006258.4(PRKG1):c.460C>T (p.Leu154=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 840596	NM_006258.4(PRKG1):c.461T>C (p.Leu154Pro)	PRKG1 (L139P +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 580660	NM_006258.4(PRKG1):c.470T>C (p.Val157Ala)	PRKG1 (V142A +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8 +1 more	GUncertain significance

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