PRKG1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 154129	GRCh38/hg38 10q11.23-21.1(chr10:50453699-51121757)x3	A1CF, ASAH2B +22 more	Copy number gain	See cases	GUncertain significance
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 148667	GRCh38/hg38 10q11.23-21.1(chr10:50967523-53709183)x1	CSTF2T, DKK1 +18 more	Copy number loss	See cases	GUncertain significance
Select item 1211508	NC_000010.11:g.50990877dup	PRKG1	Duplication	not provided	GLikely benign
Select item 1239960	NC_000010.11:g.50990877del	PRKG1	Deletion	not provided	GBenign
Select item 683714	NM_001098512.3(PRKG1):c.-474C>T	PRKG1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1275476	NM_001098512.3(PRKG1):c.-359del	PRKG1	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 674059	NM_001098512.3(PRKG1):c.-345A>G	PRKG1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 676360	NM_001098512.3(PRKG1):c.-152A>G	PRKG1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 674736	NM_001098512.3(PRKG1):c.-144C>A	PRKG1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1204833	NM_001098512.3(PRKG1):c.-75C>A	PRKG1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1296422	NM_001098512.3(PRKG1):c.-68GCC[15]	PRKG1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1296349	NM_001098512.3(PRKG1):c.-68GCC[12]	PRKG1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1178642	NM_001098512.3(PRKG1):c.-68GCC[13]	PRKG1	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1221009	NM_001098512.3(PRKG1):c.-68GCC[8]	PRKG1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1266074	NM_001098512.3(PRKG1):c.-49_-48insTGC	PRKG1	Insertion (5 prime UTR variant)	not provided	GBenign
Select item 993808	NM_001098512.3(PRKG1):c.13G>C (p.Glu5Gln)	PRKG1 (E5Q)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 8	GLikely benign
Select item 180475	NM_001098512.3(PRKG1):c.39G>A (p.Met13Ile)	PRKG1 (M13I)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2630685	NM_001098512.3(PRKG1):c.91G>A (p.Glu31Lys)	PRKG1 (E31K)	Single nucleotide variant (missense variant)	PRKG1-related disorder	GUncertain significance
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 3045582	NM_001098512.3(PRKG1):c.141C>G (p.Leu47=)	PRKG1	Single nucleotide variant (synonymous variant)	PRKG1-related disorder	GLikely benign
Select item 3045781	NM_001098512.3(PRKG1):c.144A>C (p.Pro48=)	PRKG1	Single nucleotide variant (synonymous variant)	PRKG1-related disorder	GLikely benign
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 444212	NM_001098512.3(PRKG1):c.246G>C (p.Arg82=)	PRKG1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3042068	NM_001098512.3(PRKG1):c.258G>A (p.Lys86=)	PRKG1	Single nucleotide variant (synonymous variant)	PRKG1-related disorder	GLikely benign
Select item 1181653	NM_001098512.3(PRKG1):c.266+35C>T	PRKG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219572	NM_001098512.3(PRKG1):c.266+52G>C	PRKG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218770	NM_001098512.3(PRKG1):c.266+134C>A	PRKG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683737	NM_001098512.3(PRKG1):c.267-79022C>T	PRKG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216927	NM_001098512.3(PRKG1):c.267-78848C>G	PRKG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 391047	NM_006258.4(PRKG1):c.-31C>T	PRKG1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 512499	NM_006258.4(PRKG1):c.-30A>G	PRKG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 1305972	NM_006258.4(PRKG1):c.5G>A (p.Gly2Asp)	PRKG1 (G2D)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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)	Aortic aneurysm, familial thoracic 8 +1 more	GLikely benign
Select item 3310202	NM_006258.4(PRKG1):c.44T>A (p.Ile15Asn)	PRKG1 (I15N)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 2429671	NM_006258.4(PRKG1):c.80A>T (p.Glu27Val)	PRKG1 (E27V)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 742630	NM_006258.4(PRKG1):c.99T>C (p.Asp33=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	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 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 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 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)	not provided +3 more	GBenign/Likely 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 1910409	NM_006258.4(PRKG1):c.129G>A (p.Gln43=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	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 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 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 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)	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	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 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 1099305	NM_006258.4(PRKG1):c.165A>C (p.Pro55=)	PRKG1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 8	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	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	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)	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 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 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 1315307	NM_006258.4(PRKG1):c.211G>A (p.Glu71Lys)	PRKG1 (E71K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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