"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 628851	NM_016203.4(PRKAG2):c.*6G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 926498	NM_016203.4(PRKAG2):c.1705G>C (p.Glu569Gln)	PRKAG2 (E445Q +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 45706	NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 373297	NM_016203.4(PRKAG2):c.1693G>C (p.Glu565Gln)	PRKAG2 (E565Q +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 45705	NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)	PRKAG2 (Q563* +4 more)	Single nucleotide variant (nonsense)	not specified +4 more	GUncertain significance
Select item 518717	NM_016203.4(PRKAG2):c.1681G>A (p.Ala561Thr)	PRKAG2 (A561T +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 512760	NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 45703	NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1087448	NM_016203.4(PRKAG2):c.1641G>T (p.Leu547=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 1171875	NM_016203.4(PRKAG2):c.1637C>G (p.Ser546Cys)	PRKAG2 (S305C +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 1171209	NM_016203.4(PRKAG2):c.1635T>C (p.Ile545=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1119240	NM_016203.4(PRKAG2):c.1629T>A (p.Gly543=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 3074730	NM_016203.4(PRKAG2):c.1627G>T (p.Gly543Cys)	PRKAG2 (G301C +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1776687	NM_016203.4(PRKAG2):c.1625T>C (p.Val542Ala)	PRKAG2 (V417A +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 45702	NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=)	PRKAG2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 506773	NM_016203.4(PRKAG2):c.1620T>C (p.Ser540=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 928067	NM_016203.4(PRKAG2):c.1618A>G (p.Ser540Gly)	PRKAG2 (S540G +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1095018	NM_016203.4(PRKAG2):c.1614A>G (p.Ala538=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart +2 more	GLikely benign
Select item 36696	NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart +7 more	GBenign/Likely benign
Select item 45701	NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu)	PRKAG2 (R531L +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 3072185	NM_016203.4(PRKAG2):c.1585-15C>T	PRKAG2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 927885	NM_016203.4(PRKAG2):c.1561G>A (p.Val521Met)	PRKAG2 (V397M +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 925659	NM_016203.4(PRKAG2):c.1560C>T (p.Ile520=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 3019079	NM_016203.4(PRKAG2):c.1554G>A (p.Glu518=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 465340	NM_016203.4(PRKAG2):c.1535A>T (p.Asn512Ile)	PRKAG2 (N512I +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 177820	NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg)	PRKAG2 (Q503R +4 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern +4 more	GUncertain significance
Select item 3069858	NM_016203.4(PRKAG2):c.1501C>T (p.Arg501Cys)	PRKAG2 (R259C +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074406	NM_016203.4(PRKAG2):c.1495C>G (p.Gln499Glu)	PRKAG2 (Q257E +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 629538	NM_016203.4(PRKAG2):c.1482G>A (p.Val494=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 385450	NM_016203.4(PRKAG2):c.1479G>A (p.Thr493=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GLikely benign
Select item 3387520	NM_016203.4(PRKAG2):c.1475T>C (p.Ile492Thr)	PRKAG2 (I250T +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 222771	NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)	PRKAG2 (I492N +4 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 3387521	NM_016203.4(PRKAG2):c.1465A>G (p.Asn489Asp)	PRKAG2 (N247D +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 227877	NM_016203.4(PRKAG2):c.1452G>A (p.Glu484=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 3074254	NM_016203.4(PRKAG2):c.1438-3C>T	PRKAG2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3387522	NM_016203.4(PRKAG2):c.1438-7A>G	PRKAG2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3387523	NM_016203.4(PRKAG2):c.1437+1G>T	PRKAG2	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 925757	NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile)	PRKAG2 (V237I +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 918822	NM_016203.4(PRKAG2):c.1413T>C (p.Asp471=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 3071876	NM_016203.4(PRKAG2):c.1400-4T>A	PRKAG2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3387524	NM_016203.4(PRKAG2):c.1400-15A>G	PRKAG2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3071781	NM_016203.4(PRKAG2):c.1395G>C (p.Glu465Asp)	PRKAG2 (E223D +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 45697	NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn)	PRKAG2 (D464N +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GUncertain significance
Select item 3075527	NM_016203.4(PRKAG2):c.1386dup (p.Val463fs)	PRKAG2 (V221fs +13 more)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 757545	NM_016203.4(PRKAG2):c.1371A>T (p.Ile457=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 927650	NM_016203.4(PRKAG2):c.1361A>G (p.Glu454Gly)	PRKAG2 (E330G +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 241092	NM_016203.4(PRKAG2):c.1335C>T (p.Ile445=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart +4 more	GLikely benign
Select item 1372961	NM_016203.4(PRKAG2):c.1333A>G (p.Ile445Val)	PRKAG2 (I204V +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +1 more	GUncertain significance
Select item 912070	NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn)	PRKAG2 (D201N +4 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1172005	NM_016203.4(PRKAG2):c.1319A>G (p.His440Arg)	PRKAG2 (H199R +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +2 more	GUncertain significance
Select item 628830	NM_016203.4(PRKAG2):c.1314C>T (p.Phe438=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 167533	NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser)	PRKAG2 (N435S +4 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern +5 more	GConflicting classifications of pathogenicity
Select item 177715	NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=)	PRKAG2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 1303564	NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met)	PRKAG2 (T191M +4 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1376620	NM_016203.4(PRKAG2):c.1294A>G (p.Thr432Ala)	PRKAG2 (T307A +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +1 more	GUncertain significance
Select item 3075357	NM_016203.4(PRKAG2):c.1285G>C (p.Gly429Arg)	PRKAG2 (G187R +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1983318	NM_016203.4(PRKAG2):c.1281G>A (p.Glu427=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart +2 more	GLikely benign
Select item 3070566	NM_016203.4(PRKAG2):c.1275G>A (p.Leu425=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1766006	NM_016203.4(PRKAG2):c.1273C>T (p.Leu425=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 45693	NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys)	PRKAG2 (Q423K +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1763005	NM_016203.4(PRKAG2):c.1260C>T (p.Phe420=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 1057106	NM_016203.4(PRKAG2):c.1255G>A (p.Ala419Thr)	PRKAG2 (A178T +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 669050	NM_016203.4(PRKAG2):c.1254T>C (p.Pro418=)	PRKAG2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 3075085	NM_016203.4(PRKAG2):c.1243A>G (p.Met415Val)	PRKAG2 (M173V +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 919004	NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys)	PRKAG2 (S172C +4 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern +5 more	GUncertain significance
Select item 3073305	NM_016203.4(PRKAG2):c.1228C>A (p.Leu410Ile)	PRKAG2 (L168I +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3387525	NM_016203.4(PRKAG2):c.1226A>C (p.Gln409Pro)	PRKAG2 (Q167P +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3387526	NM_016203.4(PRKAG2):c.1208G>C (p.Arg403Thr)	PRKAG2 (R161T +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 758764	NM_016203.4(PRKAG2):c.1200C>T (p.Thr400=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 3072615	NM_016203.4(PRKAG2):c.1195C>T (p.Leu399Phe)	PRKAG2 (L157F +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074715	NM_016203.4(PRKAG2):c.1188T>G (p.Leu396=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3387527	NM_016203.4(PRKAG2):c.1183G>A (p.Ala395Thr)	PRKAG2 (A153T +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3387528	NM_016203.4(PRKAG2):c.1174A>T (p.Ser392Cys)	PRKAG2 (S150C +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 925559	NM_016203.4(PRKAG2):c.1172T>C (p.Ile391Thr)	PRKAG2 (I150T +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 384210	NM_016203.4(PRKAG2):c.1129T>C (p.Leu377=)	PRKAG2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3387529	NM_016203.4(PRKAG2):c.1121T>C (p.Val374Ala)	PRKAG2 (V132A +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 520325	NM_016203.4(PRKAG2):c.1116T>C (p.Asp372=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1473174	NM_016203.4(PRKAG2):c.1114G>C (p.Asp372His)	PRKAG2 (D131H +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 465337	NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)	PRKAG2 (D372N +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 1063589	NM_016203.4(PRKAG2):c.1107-3C>T	PRKAG2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3074047	NM_016203.4(PRKAG2):c.1107-5dup	PRKAG2	Duplication (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074041	NM_016203.4(PRKAG2):c.1107-4A>T	PRKAG2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 921815	NM_016203.4(PRKAG2):c.1107-7C>T	PRKAG2	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GLikely benign
Select item 2056089	NM_016203.4(PRKAG2):c.1107-12del	PRKAG2	Deletion (intron variant)	Lethal congenital glycogen storage disease of heart +1 more	GConflicting classifications of pathogenicity
Select item 3387530	NM_016203.4(PRKAG2):c.1106G>T (p.Ser369Ile)	PRKAG2 (S127I +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 920127	NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser)	PRKAG2 (A244S +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +3 more	GUncertain significance
Select item 45686	NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)	PRKAG2	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 2201878	NM_016203.4(PRKAG2):c.1095T>C (p.Ser365=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 45685	NM_016203.4(PRKAG2):c.1071A>T (p.Thr357=)	PRKAG2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 3387531	NM_016203.4(PRKAG2):c.1052-11T>C	PRKAG2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 661703	NM_016203.4(PRKAG2):c.1051+3A>G	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart +4 more	GConflicting classifications of pathogenicity
Select item 3072823	NM_016203.4(PRKAG2):c.1051_1051+1dup	PRKAG2	Duplication (splice donor variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3073289	NM_016203.4(PRKAG2):c.1047G>A (p.Trp349Ter)	PRKAG2 (W107* +13 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3069825	NM_016203.4(PRKAG2):c.1043C>T (p.Thr348Ile)	PRKAG2 (T106I +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 655462	NM_016203.4(PRKAG2):c.1040A>G (p.Glu347Gly)	PRKAG2 (E222G +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +2 more	GUncertain significance
Select item 1357542	NM_016203.4(PRKAG2):c.1031A>G (p.His344Arg)	PRKAG2 (H219R +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +1 more	GUncertain significance
Select item 382593	NM_016203.4(PRKAG2):c.1020A>G (p.Glu340=)	PRKAG2	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 3073507	NM_016203.4(PRKAG2):c.1014T>A (p.Ile338=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3070712	NM_016203.4(PRKAG2):c.1011G>T (p.Gln337His)	PRKAG2 (Q112H +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1050004	NM_016203.4(PRKAG2):c.1003A>G (p.Met335Val)	PRKAG2 (M210V +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance

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