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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2400959	NM_018686.6(CMAS):c.8C>T (p.Ser3Leu)	CMAS, LOC112163548 (S3L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146200	NM_018686.6(CMAS):c.53G>T (p.Arg18Leu)	CMAS, LOC112163548 (R18L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146198	NM_018686.6(CMAS):c.130C>T (p.His44Tyr)	CMAS, LOC112163548 (H44Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607823	NM_018686.6(CMAS):c.161G>A (p.Gly54Asp)	CMAS, LOC112163548 (G54D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238479	NM_018686.6(CMAS):c.380T>C (p.Ile127Thr)	CMAS (I127T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146199	NM_018686.6(CMAS):c.481A>G (p.Ile161Val)	CMAS (I161V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294344	NM_018686.6(CMAS):c.523C>T (p.Arg175Cys)	CMAS (R175C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146201	NM_018686.6(CMAS):c.673A>G (p.Ile225Val)	CMAS (I225V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146202	NM_018686.6(CMAS):c.722G>A (p.Arg241Gln)	CMAS (R241Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267959	NM_018686.6(CMAS):c.734G>T (p.Ser245Ile)	CMAS (S245I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611726	NM_018686.6(CMAS):c.743T>C (p.Ile248Thr)	CMAS (I248T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410255	NM_018686.6(CMAS):c.785T>C (p.Leu262Ser)	CMAS (L262S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146203	NM_018686.6(CMAS):c.982G>C (p.Ala328Pro)	CMAS (A328P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267960	NM_018686.6(CMAS):c.1029G>A (p.Met343Ile)	CMAS (M343I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547493	NM_018686.6(CMAS):c.1166C>T (p.Ala389Val)	CMAS (A389V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2600498	NM_018686.6(CMAS):c.1174G>A (p.Asp392Asn)	CMAS (D392N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271411	NM_018686.6(CMAS):c.1196A>G (p.Lys399Arg)	CMAS (K399R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance