Related gene-specific medical variations for Gene (Select 51422) - ClinVar

Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359385	NM_016203.4(PRKAG2):c.1105A>C (p.Ser369Arg)	PRKAG2 (S127R +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3254877	NM_016203.4(PRKAG2):c.734A>G (p.Lys245Arg)	LOC129999660, PRKAG2 (K121R +6 more)	Single nucleotide variant (missense variant +1 more)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 3245748	NC_000007.13:g.(?_151254287)_(151273558_?)dup	PRKAG2	Duplication	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 3245747	NC_000007.13:g.(?_151267237)_(151273558_?)dup	PRKAG2	Duplication	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 3245746	NC_000007.13:g.(?_151292411)_(151292560_?)dup	PRKAG2	Duplication	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 3245744	NC_000007.13:g.(?_151573572)_(151573705_?)dup	PRKAG2	Duplication	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2959849	NM_016203.4(PRKAG2):c.719C>A (p.Ala240Asp)	LOC129999660, PRKAG2 (A134D +5 more)	Single nucleotide variant (missense variant +2 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2954934	NM_016203.4(PRKAG2):c.709C>T (p.Pro237Ser)	LOC129999660, PRKAG2 (P193S +5 more)	Single nucleotide variant (missense variant +2 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2911346	NM_016203.4(PRKAG2):c.754+18G>A	LOC129999660, PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2891027	NM_016203.4(PRKAG2):c.748G>A (p.Asp250Asn)	LOC129999660, PRKAG2 (D250N +6 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2782676	NM_016203.4(PRKAG2):c.714G>C (p.Ala238=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +2 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2763895	NM_016203.4(PRKAG2):c.685-20_685-18dup	LOC129999660, PRKAG2	Duplication (5 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2716916	NM_016203.4(PRKAG2):c.754+17C>T	LOC129999660, PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2712100	NM_016203.4(PRKAG2):c.745G>A (p.Glu249Lys)	LOC129999660, PRKAG2 (E143K +6 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2702177	NM_016203.4(PRKAG2):c.754+10C>A	LOC129999660, PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2691232	NM_016203.4(PRKAG2):c.725T>A (p.Met242Lys)	LOC129999660, PRKAG2 (M118K +6 more)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy	GUncertain significance
Select item 2658192	NM_016203.4(PRKAG2):c.115-21063C>T	PRKAG2, PRKAG2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2579034	NM_016203.4(PRKAG2):c.714G>A (p.Ala238=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2567234	NM_016203.4(PRKAG2):c.696G>T (p.Ala232=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 2415633	NM_016203.4(PRKAG2):c.698C>T (p.Ala233Val)	LOC129999660, PRKAG2 (A109V +5 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2182853	NM_016203.4(PRKAG2):c.685-9C>A	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2170907	NM_016203.4(PRKAG2):c.685-19TCC[3]	LOC129999660, PRKAG2	Microsatellite (5 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2156272	NM_016203.4(PRKAG2):c.754+11C>T	LOC129999660, PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2129621	NM_016203.4(PRKAG2):c.711C>G (p.Pro237=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +2 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2107672	NM_016203.4(PRKAG2):c.685-3C>A	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 1758964	NM_016203.4(PRKAG2):c.744C>T (p.Phe248=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1758611	NM_016203.4(PRKAG2):c.737T>C (p.Leu246Pro)	LOC129999660, PRKAG2 (L5P +6 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1757499	NM_016203.4(PRKAG2):c.717A>C (p.Glu239Asp)	LOC129999660, PRKAG2 (E131D +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1756536	NM_016203.4(PRKAG2):c.699G>T (p.Ala233=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1755880	NM_016203.4(PRKAG2):c.686C>T (p.Ala229Val)	LOC129999660, PRKAG2 (A121V +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1677571	NM_016203.4(PRKAG2):c.685-1G>A	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 1636576	NM_016203.4(PRKAG2):c.685-12C>T	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 1609059	NM_016203.4(PRKAG2):c.754+19_754+24del	LOC129999660, PRKAG2	Deletion (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 1589177	NM_016203.4(PRKAG2):c.754+15C>T	LOC129999660, PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 1504726	NM_016203.4(PRKAG2):c.721G>C (p.Gly241Arg)	LOC129999660, PRKAG2 (G117R +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 1468182	NM_016203.4(PRKAG2):c.739G>A (p.Glu247Lys)	LOC129999660, PRKAG2 (E247K +3 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 1431267	NM_016203.4(PRKAG2):c.754+19C>G	LOC129999660, PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 1401259	NM_016203.4(PRKAG2):c.754+17C>A	LOC129999660, PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 1248469	NM_016203.4(PRKAG2):c.685-362C>T	LOC129999660, PRKAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191572	NM_016203.4(PRKAG2):c.685-121C>T	LOC129999660, PRKAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164564	NM_016203.4(PRKAG2):c.467-12630G>T	LOC110121276, PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GBenign
Select item 1114804	NM_016203.4(PRKAG2):c.685-5C>T	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 1055180	NM_016203.4(PRKAG2):c.733A>C (p.Lys245Gln)	LOC129999660, PRKAG2 (K121Q +3 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 1047629	NM_016203.4(PRKAG2):c.698C>A (p.Ala233Glu)	LOC129999660, PRKAG2 (A109E +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 1039195	NM_016203.4(PRKAG2):c.740A>G (p.Glu247Gly)	LOC129999660, PRKAG2 (E247G +3 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 951988	NM_016203.4(PRKAG2):c.719C>T (p.Ala240Val)	LOC129999660, PRKAG2 (A240V +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 941410	NM_016203.4(PRKAG2):c.691C>G (p.Leu231Val)	LOC129999660, PRKAG2 (L107V +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart +1 more	GUncertain significance
Select item 931949	NM_016203.4(PRKAG2):c.413C>G (p.Ser138Cys)	PRKAG2 (S138C +1 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 928203	NM_016203.4(PRKAG2):c.685-19TCC[5]	LOC129999660, PRKAG2	Microsatellite (5 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart +1 more	GLikely benign
Select item 925228	NM_016203.4(PRKAG2):c.685-6C>T	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiomyopathy +1 more	GLikely benign
Select item 924376	NM_016203.4(PRKAG2):c.685-9C>T	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart +1 more	GLikely benign
Select item 924302	NM_016203.4(PRKAG2):c.687G>A (p.Ala229=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
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 922288	NM_016203.4(PRKAG2):c.685-7C>T	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiomyopathy	GLikely benign
Select item 921902	NM_016203.4(PRKAG2):c.691C>T (p.Leu231=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 920626	NM_016203.4(PRKAG2):c.751G>T (p.Glu251Ter)	LOC129999660, PRKAG2 (E10* +3 more)	Single nucleotide variant (nonsense)	Cardiomyopathy	GUncertain significance
Select item 919637	NM_016203.4(PRKAG2):c.706G>C (p.Gly236Arg)	LOC129999660, PRKAG2 (G112R +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 918879	NM_016203.4(PRKAG2):c.693G>A (p.Leu231=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +1 more	GLikely benign
Select item 918672	NM_016203.4(PRKAG2):c.713C>T (p.Ala238Val)	LOC129999660, PRKAG2 (A194V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
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 853382	NM_016203.4(PRKAG2):c.696G>A (p.Ala232=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Lethal congenital glycogen storage disease of heart +1 more	GLikely benign
Select item 847650	NM_016203.4(PRKAG2):c.685-6C>A	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 810214	NM_016203.4(PRKAG2):c.745G>C (p.Glu249Gln)	LOC129999660, PRKAG2 (E8Q +3 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +1 more	GUncertain significance
Select item 759701	NM_016203.4(PRKAG2):c.754+10C>T	LOC129999660, PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 750283	NM_016203.4(PRKAG2):c.690G>T (p.Ala230=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 748353	NM_016203.4(PRKAG2):c.732G>A (p.Glu244=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 665806	NM_016203.4(PRKAG2):c.715G>A (p.Glu239Lys)	LOC129999660, PRKAG2 (E115K +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 636537	NM_016203.4(PRKAG2):c.46A>T (p.Ser16Cys)	PRKAG2 (S16C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 626497	NM_016203.4(PRKAG2):c.695C>T (p.Ala232Val)	LOC129999660, PRKAG2 (A232V +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart +1 more	GUncertain significance
Select item 563287	GRCh37/hg19 7q36.1(chr7:151448492-151525466)x1	PRKAG2	Copy number loss	not provided	GUncertain significance
Select item 533887	NM_016203.4(PRKAG2):c.703C>T (p.Leu235=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Lethal congenital glycogen storage disease of heart +3 more	GConflicting classifications of pathogenicity
Select item 520332	NM_016203.4(PRKAG2):c.689C>T (p.Ala230Val)	LOC129999660, PRKAG2 (A230V +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart +2 more	GUncertain significance
Select item 516871	NM_016203.4(PRKAG2):c.754+14G>T	LOC129999660, PRKAG2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 513351	NM_016203.4(PRKAG2):c.685-5C>A	LOC129999660, PRKAG2	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 420238	NM_016203.4(PRKAG2):c.754+13dup	LOC129999660, PRKAG2	Duplication (intron variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
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)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 378427	NM_016203.4(PRKAG2):c.685-3C>T	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart +1 more	GConflicting classifications of pathogenicity
Select item 260696	NM_016203.4(PRKAG2):c.864+32G>T	PRKAG2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 260693	NM_016203.4(PRKAG2):c.1051+36C>T	PRKAG2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 241097	NM_016203.4(PRKAG2):c.693GGC[4] (p.Ala234dup)	LOC129999660, PRKAG2	Microsatellite (inframe_insertion +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 227878	NM_016203.4(PRKAG2):c.720C>G (p.Ala240=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +2 more	GLikely benign
Select item 181463	NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr)	LOC129999660, PRKAG2 (A238T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 45735	NM_016203.4(PRKAG2):c.739G>C (p.Glu247Gln)	LOC129999660, PRKAG2 (E247Q +3 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 45734	NM_016203.4(PRKAG2):c.722G>A (p.Gly241Asp)	LOC129999660, PRKAG2 (G241D +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	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 45732	NM_016203.4(PRKAG2):c.685-8C>T	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart +1 more	GLikely benign
Select item 45731	NM_016203.4(PRKAG2):c.685-7C>A	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity

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Items: 89