"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC129999660 - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 378428	NM_016203.4(PRKAG2):c.750C>T (p.Asp250=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 748353	NM_016203.4(PRKAG2):c.732G>A (p.Glu244=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart +2 more	GLikely benign
Select item 923868	NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)	LOC129999660, PRKAG2 (L199V +3 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +3 more	GUncertain significance
Select item 227878	NM_016203.4(PRKAG2):c.720C>G (p.Ala240=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Lethal congenital glycogen storage disease of heart +2 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)	Lethal congenital glycogen storage disease of heart +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)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 919637	NM_016203.4(PRKAG2):c.706G>C (p.Gly236Arg)	LOC129999660, PRKAG2 (G112R +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart +1 more	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)	not provided +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 45733	NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)	LOC129999660, PRKAG2 (A233G +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 1 +8 more	GConflicting classifications of pathogenicity
Select item 918879	NM_016203.4(PRKAG2):c.693G>A (p.Leu231=)	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart +1 more	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 924302	NM_016203.4(PRKAG2):c.687G>A (p.Ala229=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 513351	NM_016203.4(PRKAG2):c.685-5C>A	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 925228	NM_016203.4(PRKAG2):c.685-6C>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 928203	NM_016203.4(PRKAG2):c.685-19TCC[5]	LOC129999660, PRKAG2	Microsatellite (5 prime UTR variant +1 more)	Cardiomyopathy +1 more	GLikely benign
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 45731	NM_016203.4(PRKAG2):c.685-7C>A	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 924376	NM_016203.4(PRKAG2):c.685-9C>T	LOC129999660, PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiomyopathy +1 more	GLikely benign

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Items: 20