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

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3225591	NM_006440.5(TXNRD2):c.29G>T (p.Gly10Val)	TXNRD2, COMT (G10V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1794907	NM_006440.5(TXNRD2):c.26G>C (p.Arg9Pro)	TXNRD2, COMT (R9P)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 2564287	NM_006440.5(TXNRD2):c.25C>A (p.Arg9=)	COMT, TXNRD2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 2561861	NM_006440.5(TXNRD2):c.22C>T (p.Leu8=)	COMT, TXNRD2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1785878	NM_006440.5(TXNRD2):c.20C>T (p.Ala7Val)	COMT, TXNRD2 (A7V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1785876	NM_006440.5(TXNRD2):c.20C>G (p.Ala7Gly)	COMT, TXNRD2 (A7G)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 3330401	NM_006440.5(TXNRD2):c.19G>A (p.Ala7Thr)	COMT, TXNRD2 (A7T)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1780378	NM_006440.5(TXNRD2):c.17T>C (p.Val6Ala)	COMT, TXNRD2 (V6A)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 432854	NM_006440.5(TXNRD2):c.11T>C (p.Met4Thr)	COMT, TXNRD2 (M4T)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid deficiency 5 +3 more	GUncertain significance
Select item 1583601	NM_006440.5(TXNRD2):c.6G>T (p.Ala2=)	COMT, TXNRD2	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 3225595	NM_006440.5(TXNRD2):c.5C>T (p.Ala2Val)	COMT, TXNRD2 (A2V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1000359	NM_006440.5(TXNRD2):c.2T>C (p.Met1Thr)	COMT, TXNRD2 (M1T)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1798657	NM_006440.5(TXNRD2):c.-2C>T	COMT, TXNRD2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1750981	NM_006440.5(TXNRD2):c.-5C>A	COMT, TXNRD2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2214411	NM_000754.4(COMT):c.428C>G (p.Pro143Arg)	COMT (P93R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147939	NM_000754.4(COMT):c.685T>C (p.Phe229Leu)	ARVCF, COMT (F229L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352410	NM_000754.4(COMT):c.700C>T (p.Arg234Cys)	ARVCF, COMT (R234C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289835	NM_000754.4(COMT):c.718G>C (p.Glu240Gln)	ARVCF, COMT (E190Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336011	NM_000754.4(COMT):c.756G>C (p.Glu252Asp)	ARVCF, COMT (E202D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance