Related gene-specific medical variations for Gene (Select 55907) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 778585	NM_018686.6(CMAS):c.78G>A (p.Lys26=)	CMAS, LOC112163548	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 395649	GRCh37/hg19 12p12.1(chr12:22208422-22235024)x3	CMAS	Copy number gain	See cases	GBenign

ClinVar