"Ambry Genetics"[submitter] AND "LOC129992279"[gene] - ClinVar - NCBI

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269158	NM_001177382.2(CPEB2):c.1073G>A (p.Gly358Asp)	CPEB2, LOC129992279 (G358D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076623	NM_001177382.2(CPEB2):c.1081C>A (p.Pro361Thr)	CPEB2, LOC129992279 (P361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396758	NM_001177382.2(CPEB2):c.1090G>C (p.Gly364Arg)	CPEB2, LOC129992279 (G364R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313616	NM_001177382.2(CPEB2):c.1100G>A (p.Gly367Glu)	CPEB2, LOC129992279 (G367E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252407	NM_001177382.2(CPEB2):c.1103G>C (p.Gly368Ala)	CPEB2, LOC129992279 (G368A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282888	NM_001177382.2(CPEB2):c.1144C>T (p.Pro382Ser)	CPEB2, LOC129992279 (P382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276470	NM_001177382.2(CPEB2):c.1181C>G (p.Pro394Arg)	CPEB2, LOC129992279 (P394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301603	NM_001177382.2(CPEB2):c.1185G>C (p.Gln395His)	CPEB2, LOC129992279 (Q395H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305187	NM_001177382.2(CPEB2):c.1186C>G (p.Gln396Glu)	CPEB2, LOC129992279 (Q396E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076624	NM_001177382.2(CPEB2):c.1225C>T (p.Pro409Ser)	CPEB2, LOC129992279 (P409S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076625	NM_001177382.2(CPEB2):c.1247A>C (p.Gln416Pro)	CPEB2, LOC129992279 (Q416P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076626	NM_001177382.2(CPEB2):c.1248G>C (p.Gln416His)	CPEB2, LOC129992279 (Q416H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance