"Ambry Genetics"[submitter] AND "LOC129999660"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 378428	NM_016203.4(PRKAG2):c.750C>T (p.Asp250=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant)	PRKAG2-related condition +7 more	GConflicting classifications of pathogenicity
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 748353	NM_016203.4(PRKAG2):c.732G>A (p.Glu244=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
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 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 181463	NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr)	LOC129999660, PRKAG2 (A238T +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 410720	NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg)	LOC129999660, PRKAG2 (L235R +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 533887	NM_016203.4(PRKAG2):c.703C>T (p.Leu235=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 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 45733	NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)	LOC129999660, PRKAG2 (A233G +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +8 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 941410	NM_016203.4(PRKAG2):c.691C>G (p.Leu231Val)	LOC129999660, PRKAG2 (L107V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
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 520332	NM_016203.4(PRKAG2):c.689C>T (p.Ala230Val)	LOC129999660, PRKAG2 (A230V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1755880	NM_016203.4(PRKAG2):c.686C>T (p.Ala229Val)	LOC129999660, PRKAG2 (A121V +5 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart +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 513351	NM_016203.4(PRKAG2):c.685-5C>A	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart +3 more	GConflicting classifications of pathogenicity