"Ambry Genetics"[submitter] AND "CMC1"[gene] - ClinVar - NCBI

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

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3146210	NM_182523.2(CMC1):c.32G>C (p.Arg11Thr)	CMC1 (R14T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3267963	NM_182523.2(CMC1):c.40G>A (p.Glu14Lys)	CMC1 (E58K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2246529	NM_182523.2(CMC1):c.67A>G (p.Met23Val)	CMC1 (M67V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294618	NM_182523.2(CMC1):c.125G>A (p.Cys42Tyr)	CMC1 (C12Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617977	NM_182523.2(CMC1):c.128A>G (p.Lys43Arg)	CMC1 (K13R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487213	NM_182523.2(CMC1):c.254G>T (p.Arg85Met)	CMC1 (R117M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390074	NM_182523.2(CMC1):c.258A>C (p.Glu86Asp)	CMC1 (E118D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146209	NM_182523.2(CMC1):c.296T>C (p.Leu99Pro)	CMC1 (L102P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132503	NM_022461.5(AZI2):c.1171A>G (p.Lys391Glu)	AZI2, CMC1 (K391E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3258444	NM_022461.5(AZI2):c.1123C>G (p.Leu375Val)	AZI2, CMC1 (L375V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3258423	NM_022461.5(AZI2):c.1093A>T (p.Thr365Ser)	AZI2, CMC1 (T365S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2371532	NM_022461.5(AZI2):c.1018G>A (p.Gly340Ser)	AZI2, CMC1 (G340S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3132507	NM_022461.5(AZI2):c.925G>T (p.Val309Phe)	AZI2, CMC1 (V309F +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2390019	NM_022461.5(AZI2):c.800G>T (p.Gly267Val)	AZI2, CMC1 (G267V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2272470	NM_022461.5(AZI2):c.779T>C (p.Val260Ala)	AZI2, CMC1 (V260A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance