ClinVar for MedGen (Select 331466) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 122

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342295	NM_016203.4(PRKAG2):c.1234-2A>G	PRKAG2	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 6	GUncertain significance
Select item 3250459	NM_016203.4(PRKAG2):c.595G>T (p.Asp199Tyr)	PRKAG2 (D155Y +3 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 6	GUncertain significance
Select item 2774173	NM_016203.4(PRKAG2):c.392C>G (p.Ser131Cys)	PRKAG2 (S131C +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 1709857	NM_016203.4(PRKAG2):c.320C>G (p.Pro107Arg)	PRKAG2 (P107R +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 6	GUncertain significance
Select item 1679145	NM_016203.4(PRKAG2):c.1073T>A (p.Phe358Tyr)	PRKAG2 (F117Y +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 6	GUncertain significance
Select item 1303564	NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met)	PRKAG2 (T191M +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1284683	NM_016203.4(PRKAG2):c.1106+19del	PRKAG2	Deletion (intron variant)	Lethal congenital glycogen storage disease of heart +2 more	GBenign/Likely benign
Select item 1284416	NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu)	PRKAG2 (P153L +2 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +4 more	GUncertain significance
Select item 1000417	NM_016203.4(PRKAG2):c.187-3C>T	PRKAG2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 6 +2 more	GUncertain significance
Select item 998887	NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu)	PRKAG2 (D49E +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 6 +2 more	GUncertain significance
Select item 966582	NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp)	PRKAG2 (G114D +2 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +2 more	GUncertain significance
Select item 925757	NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile)	PRKAG2 (V237I +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 923868	NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)	LOC129999660, PRKAG2 (L199V +3 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 919004	NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys)	PRKAG2 (S172C +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 912206	NM_016203.4(PRKAG2):c.90G>T (p.Arg30Ser)	PRKAG2 (R30S)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 912141	NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)	PRKAG2 (P114L +1 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +6 more	GConflicting classifications of pathogenicity
Select item 912070	NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn)	PRKAG2 (D201N +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +5 more	GUncertain significance
Select item 912012	NM_016203.4(PRKAG2):c.*256T>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 911968	NM_016203.4(PRKAG2):c.*953T>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 910975	NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln)	PRKAG2 (L40Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypertrophic cardiomyopathy 6 +4 more	GUncertain significance
Select item 910804	NM_016203.4(PRKAG2):c.*398C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 910803	NM_016203.4(PRKAG2):c.*399G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +2 more	GBenign/Likely benign
Select item 910802	NM_016203.4(PRKAG2):c.*419C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 910801	NM_016203.4(PRKAG2):c.*450T>C	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 910747	NM_016203.4(PRKAG2):c.*1021T>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 910746	NM_016203.4(PRKAG2):c.*1030T>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Wolff-Parkinson-White pattern +2 more	GConflicting classifications of pathogenicity
Select item 910745	NM_016203.4(PRKAG2):c.*1043G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 910143	NM_016203.4(PRKAG2):c.-481G>A	PRKAG2, PRKAG2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Wolff-Parkinson-White pattern +2 more	GUncertain significance
Select item 909955	NM_016203.4(PRKAG2):c.*56G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +2 more	GBenign/Likely benign
Select item 909898	NM_016203.4(PRKAG2):c.*471T>C	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 909098	NM_016203.4(PRKAG2):c.*156A>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 909038	NM_016203.4(PRKAG2):c.*771C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 908128	NM_016203.4(PRKAG2):c.278T>C (p.Val93Ala)	PRKAG2 (V93A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 696154	NM_016203.4(PRKAG2):c.147C>T (p.Asp49=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GLikely benign
Select item 695734	NM_016203.4(PRKAG2):c.297C>T (p.Pro99=)	PRKAG2	Single nucleotide variant (synonymous variant)	Wolff-Parkinson-White pattern +5 more	GLikely benign
Select item 634611	NM_016203.4(PRKAG2):c.274C>A (p.Pro92Thr)	PRKAG2 (P92T +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 626749	NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala)	PRKAG2 (S333A +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 572592	NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu)	PRKAG2 (S194L +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 520489	NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu)	PRKAG2 (K11E)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 520278	NM_016203.4(PRKAG2):c.432C>T (p.Pro144=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 465344	NM_016203.4(PRKAG2):c.947-7G>A	PRKAG2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 6 +3 more	GConflicting classifications of pathogenicity
Select item 465343	NM_016203.4(PRKAG2):c.88A>C (p.Arg30=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
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 451944	NM_016203.4(PRKAG2):c.1372T>G (p.Ser458Ala)	PRKAG2 (S458A +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +3 more	GUncertain significance
Select item 438860	NM_016203.4(PRKAG2):c.1454A>C (p.Lys485Thr)	PRKAG2 (K485T +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 6	GUncertain significance
Select item 410720	NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg)	LOC129999660, PRKAG2 (L235R +2 more)	Single nucleotide variant (missense variant +1 more)	Wolff-Parkinson-White pattern +5 more	GConflicting classifications of pathogenicity
Select item 378428	NM_016203.4(PRKAG2):c.750C>T (p.Asp250=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 359362	NM_016203.4(PRKAG2):c.-397G>C	PRKAG2	Single nucleotide variant (5 prime UTR variant)	Wolff-Parkinson-White pattern +2 more	GUncertain significance
Select item 359359	NM_016203.4(PRKAG2):c.-287C>G	PRKAG2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GLikely benign
Select item 359357	NM_016203.4(PRKAG2):c.-262C>T	PRKAG2	Single nucleotide variant (5 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 359356	NM_016203.4(PRKAG2):c.-252C>T	PRKAG2	Single nucleotide variant (5 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 359355	NM_016203.4(PRKAG2):c.-249G>C	PRKAG2	Single nucleotide variant (5 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 359354	NM_016203.4(PRKAG2):c.-90G>T	PRKAG2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 359352	NM_016203.4(PRKAG2):c.-16A>G	PRKAG2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 359351	NM_016203.4(PRKAG2):c.138G>A (p.Pro46=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 359349	NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala)	PRKAG2 (G75A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 359348	NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu)	PRKAG2 (P83L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 359347	NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg)	PRKAG2 (K132R +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 359346	NM_016203.4(PRKAG2):c.429G>A (p.Ser143=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 359345	NM_016203.4(PRKAG2):c.433G>A (p.Gly145Arg)	PRKAG2 (G145R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 359343	NM_016203.4(PRKAG2):c.*55C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Wolff-Parkinson-White pattern +2 more	GConflicting classifications of pathogenicity
Select item 359342	NM_016203.4(PRKAG2):c.*112A>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 359341	NM_016203.4(PRKAG2):c.*127C>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +2 more	GConflicting classifications of pathogenicity
Select item 359340	NM_016203.4(PRKAG2):c.*135T>C	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +2 more	GConflicting classifications of pathogenicity
Select item 359338	NM_016203.4(PRKAG2):c.*365G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 359337	NM_016203.4(PRKAG2):c.*384C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Wolff-Parkinson-White pattern +2 more	GBenign/Likely benign
Select item 359336	NM_016203.4(PRKAG2):c.*452C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Wolff-Parkinson-White pattern +2 more	GBenign/Likely benign
Select item 359335	NM_016203.4(PRKAG2):c.*522G>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 359334	NM_016203.4(PRKAG2):c.*572G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GLikely benign
Select item 359333	NM_016203.4(PRKAG2):c.*612G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 359332	NM_016203.4(PRKAG2):c.*614A>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +2 more	GConflicting classifications of pathogenicity
Select item 359331	NM_016203.4(PRKAG2):c.*835T>C	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 359330	NM_016203.4(PRKAG2):c.*887G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Wolff-Parkinson-White pattern +1 more	GUncertain significance
Select item 359328	NM_016203.4(PRKAG2):c.*964G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 359327	NM_016203.4(PRKAG2):c.*1012T>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Wolff-Parkinson-White pattern +1 more	GUncertain significance
Select item 359320	NM_016203.4(PRKAG2):c.*1061G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 260697	NM_016203.4(PRKAG2):c.864+35_864+36insA	PRKAG2	Insertion (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 260692	NM_016203.4(PRKAG2):c.-26C>T	PRKAG2	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GBenign
Select item 241096	NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu)	PRKAG2 (P198L +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 227880	NM_016203.4(PRKAG2):c.981A>G (p.Leu327=)	PRKAG2	Single nucleotide variant (synonymous variant)	Wolff-Parkinson-White pattern +6 more	GConflicting classifications of pathogenicity
Select item 222771	NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)	PRKAG2 (I492N +4 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 222770	NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly)	PRKAG2 (A437G +4 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 181487	NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln)	PRKAG2 (R186Q +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 181485	NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu)	PRKAG2 (P144L +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 181479	NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln)	PRKAG2 (R456Q +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 181473	NM_016203.4(PRKAG2):c.866T>C (p.Val289Ala)	PRKAG2 (V289A +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 181469	NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp)	PRKAG2 (R186W +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 177987	NM_016203.4(PRKAG2):c.*2C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 177820	NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg)	PRKAG2 (Q503R +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +4 more	GUncertain significance
Select item 45736	NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile)	PRKAG2 (V289I +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 45733	NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)	LOC129999660, PRKAG2 (A233G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 45729	NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys)	PRKAG2 (S207C +2 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +4 more	GUncertain significance
Select item 45727	NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile)	PRKAG2 (S20I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 45723	NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys)	PRKAG2 (E178K +2 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +5 more	GUncertain significance
Select item 45721	NM_016203.4(PRKAG2):c.471C>T (p.Ser157=)	PRKAG2	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 45717	NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)	PRKAG2 (T142I +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 6 +7 more	GConflicting classifications of pathogenicity
Select item 45715	NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala)	PRKAG2 (S109A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 45713	NM_016203.4(PRKAG2):c.312C>T (p.Thr104=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 45711	NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser)	PRKAG2 (P83S +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 6 +6 more	GConflicting classifications of pathogenicity
Select item 45710	NM_016203.4(PRKAG2):c.240C>A (p.Gly80=)	PRKAG2	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2