"Ambry Genetics"[submitter] AND "PRKG1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180475	NM_001098512.3(PRKG1):c.39G>A (p.Met13Ile)	PRKG1 (M13I)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8 +3 more	GLikely benign
Select item 3218854	NM_001098512.3(PRKG1):c.131A>G (p.Gln44Arg)	PRKG1 (Q44R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2602757	NM_001098512.3(PRKG1):c.209C>G (p.Thr70Arg)	PRKG1 (T70R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1751003	NM_006258.4(PRKG1):c.-5G>A	PRKG1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1792148	NM_006258.4(PRKG1):c.10T>C (p.Leu4=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	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 414276	NM_006258.4(PRKG1):c.30G>A (p.Ala10=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 702744	NM_006258.4(PRKG1):c.36G>A (p.Gln12=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1735991	NM_006258.4(PRKG1):c.38A>G (p.Glu13Gly)	PRKG1 (E13G)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 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 3225520	NM_006258.4(PRKG1):c.97G>C (p.Asp33His)	PRKG1 (D33H)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1727919	NM_006258.4(PRKG1):c.112C>T (p.Leu38=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1741778	NM_006258.4(PRKG1):c.117C>T (p.Ile39=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3225516	NM_006258.4(PRKG1):c.119A>T (p.Gln40Leu)	PRKG1 (Q40L)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 508033	NM_006258.4(PRKG1):c.123G>A (p.Lys41=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +2 more	GLikely benign
Select item 1767498	NM_006258.4(PRKG1):c.127C>G (p.Gln43Glu)	PRKG1 (Q43E)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 2497637	NM_006258.4(PRKG1):c.133G>A (p.Glu45Lys)	PRKG1 (E45K)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 1773956	NM_006258.4(PRKG1):c.149G>A (p.Arg50His)	PRKG1 (R50H)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 511414	NM_006258.4(PRKG1):c.153G>C (p.Ser51=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8 +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 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 1777430	NM_006258.4(PRKG1):c.165A>G (p.Pro55=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 680446	NM_006258.4(PRKG1):c.165A>T (p.Pro55=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1491675	NM_006258.4(PRKG1):c.170C>T (p.Thr57Ile)	PRKG1 (T57I)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8 +2 more	GUncertain significance
Select item 1573214	NM_006258.4(PRKG1):c.180G>A (p.Ala60=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +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 697547	NM_006258.4(PRKG1):c.197G>T (p.Ser66Ile)	PRKG1 (S66I)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 8 +1 more	GBenign/Likely benign
Select item 1784381	NM_006258.4(PRKG1):c.200C>T (p.Thr67Ile)	PRKG1 (T67I)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1785539	NM_006258.4(PRKG1):c.207G>A (p.Gln69=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 681040	NM_006258.4(PRKG1):c.226C>A (p.Arg76=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1940724	NM_006258.4(PRKG1):c.240C>T (p.Ser80=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1791301	NM_006258.4(PRKG1):c.243C>T (p.Ala81=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1793489	NM_006258.4(PRKG1):c.258C>T (p.Phe86=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1795167	NM_006258.4(PRKG1):c.271C>T (p.Leu91Phe)	PRKG1 (L91F)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 547756	NM_006258.4(PRKG1):c.298C>T (p.Pro100Ser)	PRKG1 (P100S)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1305536	NM_006258.4(PRKG1):c.299C>G (p.Pro100Arg)	PRKG1 (P100R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 2098464	NM_006258.4(PRKG1):c.307C>T (p.Pro103Ser)	PRKG1 (P103S)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
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)	PRKG1-related condition +3 more	GUncertain significance
Select item 520139	NM_006258.4(PRKG1):c.321T>C (p.Asp107=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8 +1 more	GBenign/Likely benign
Select item 520147	NM_006258.4(PRKG1):c.337A>G (p.Ile113Val)	PRKG1 (I113V +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1734045	NM_006258.4(PRKG1):c.369G>C (p.Glu123Asp)	PRKG1 (E123D +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1098013	NM_006258.4(PRKG1):c.375G>T (p.Ser125=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 544062	NM_006258.4(PRKG1):c.375G>A (p.Ser125=)	PRKG1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 451745	NM_006258.4(PRKG1):c.395A>G (p.Asp132Gly)	PRKG1 (D117G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2565416	NM_006258.4(PRKG1):c.397T>G (p.Cys133Gly)	PRKG1 (C118G +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 220801	NM_006258.4(PRKG1):c.408G>A (p.Pro136=)	PRKG1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 477778	NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln)	PRKG1 (K126Q +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8 +2 more	GConflicting classifications of pathogenicity
Select item 240642	NM_006258.4(PRKG1):c.426C>T (p.Asp142=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8 +3 more	GBenign/Likely benign
Select item 948623	NM_006258.4(PRKG1):c.431G>A (p.Cys144Tyr)	PRKG1 (C129Y +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1740375	NM_006258.4(PRKG1):c.440A>G (p.Lys147Arg)	PRKG1 (K147R +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 701423	NM_006258.4(PRKG1):c.450C>T (p.Asp150=)	PRKG1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2565415	NM_006258.4(PRKG1):c.456G>T (p.Gly152=)	PRKG1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1534315	NM_006258.4(PRKG1):c.460C>T (p.Leu154=)	PRKG1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 580660	NM_006258.4(PRKG1):c.470T>C (p.Val157Ala)	PRKG1 (V142A +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 968719	NM_006258.4(PRKG1):c.478+4C>T	PRKG1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 698595	NM_006258.4(PRKG1):c.486G>A (p.Lys162=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 1745095	NM_006258.4(PRKG1):c.505G>A (p.Gly169Ser)	PRKG1 (G154S +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8 +1 more	GUncertain significance
Select item 510035	NM_006258.4(PRKG1):c.522C>T (p.Thr174=)	PRKG1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 520128	NM_006258.4(PRKG1):c.546G>A (p.Gly182=)	PRKG1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 8 +3 more	GBenign/Likely benign
Select item 2585891	NM_006258.4(PRKG1):c.567C>T (p.Asn189=)	PRKG1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 697107	NM_006258.4(PRKG1):c.570T>C (p.Cys190=)	PRKG1	Single nucleotide variant (synonymous variant)	PRKG1-related condition +2 more	GLikely benign
Select item 65477	NM_006258.4(PRKG1):c.575G>A (p.Arg192Gln)	PRKG1 (R177Q +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8 +2 more	GPathogenic
Select item 698989	NM_006258.4(PRKG1):c.582G>A (p.Ala194=)	PRKG1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 414272	NM_006258.4(PRKG1):c.585C>T (p.Thr195=)	PRKG1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 2544950	NM_015235.3(CSTF2T):c.1822C>A (p.Gln608Lys)	CSTF2T, PRKG1 (Q608K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078453	NM_015235.3(CSTF2T):c.1779G>T (p.Met593Ile)	CSTF2T, PRKG1 (M593I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078452	NM_015235.3(CSTF2T):c.1721A>G (p.Gln574Arg)	CSTF2T, PRKG1 (Q574R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078451	NM_015235.3(CSTF2T):c.1717G>C (p.Asp573His)	CSTF2T, PRKG1 (D573H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078449	NM_015235.3(CSTF2T):c.1716G>C (p.Gln572His)	CSTF2T, PRKG1 (Q572H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516537	NM_015235.3(CSTF2T):c.1714C>G (p.Gln572Glu)	CSTF2T, PRKG1 (Q572E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558123	NM_015235.3(CSTF2T):c.1648G>C (p.Gly550Arg)	CSTF2T, PRKG1 (G550R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078448	NM_015235.3(CSTF2T):c.1640G>T (p.Gly547Val)	CSTF2T, PRKG1 (G547V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078447	NM_015235.3(CSTF2T):c.1624G>A (p.Gly542Ser)	CSTF2T, PRKG1 (G542S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078446	NM_015235.3(CSTF2T):c.1622G>T (p.Gly541Val)	CSTF2T, PRKG1 (G541V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2294403	NM_015235.3(CSTF2T):c.1574G>C (p.Gly525Ala)	CSTF2T, PRKG1 (G525A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482671	NM_015235.3(CSTF2T):c.1528G>C (p.Gly510Arg)	CSTF2T, PRKG1 (G510R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209541	NM_015235.3(CSTF2T):c.1520G>T (p.Gly507Val)	CSTF2T, PRKG1 (G507V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295845	NM_015235.3(CSTF2T):c.1474C>T (p.Pro492Ser)	CSTF2T, PRKG1 (P492S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078445	NM_015235.3(CSTF2T):c.1457G>A (p.Gly486Asp)	CSTF2T, PRKG1 (G486D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280909	NM_015235.3(CSTF2T):c.1393C>G (p.Pro465Ala)	CSTF2T, PRKG1 (P465A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078444	NM_015235.3(CSTF2T):c.1343T>G (p.Met448Arg)	CSTF2T, PRKG1 (M448R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078443	NM_015235.3(CSTF2T):c.1322G>C (p.Cys441Ser)	CSTF2T, PRKG1 (C441S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078442	NM_015235.3(CSTF2T):c.1291C>T (p.Arg431Cys)	CSTF2T, PRKG1 (R431C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376012	NM_015235.3(CSTF2T):c.1250C>T (p.Ala417Val)	CSTF2T, PRKG1 (A417V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330421	NM_015235.3(CSTF2T):c.1243T>C (p.Ser415Pro)	CSTF2T, PRKG1 (S415P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550746	NM_015235.3(CSTF2T):c.1237A>G (p.Arg413Gly)	CSTF2T, PRKG1 (R413G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489314	NM_015235.3(CSTF2T):c.1234G>A (p.Gly412Ser)	CSTF2T, PRKG1 (G412S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3078441	NM_015235.3(CSTF2T):c.1123C>T (p.Pro375Ser)	CSTF2T, PRKG1 (P375S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611076	NM_015235.3(CSTF2T):c.1117C>A (p.Arg373Ser)	CSTF2T, PRKG1 (R373S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300316	NM_015235.3(CSTF2T):c.977C>T (p.Pro326Leu)	CSTF2T, PRKG1 (P326L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078460	NM_015235.3(CSTF2T):c.940A>G (p.Ile314Val)	CSTF2T, PRKG1 (I314V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394939	NM_015235.3(CSTF2T):c.904C>T (p.Arg302Trp)	CSTF2T, PRKG1 (R302W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078459	NM_015235.3(CSTF2T):c.844C>T (p.Pro282Ser)	CSTF2T, PRKG1 (P282S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471779	NM_015235.3(CSTF2T):c.842C>G (p.Thr281Ser)	CSTF2T, PRKG1 (T281S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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