Related gene-specific medical variations for Gene (Select 55118) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3077643	NM_018058.7(CRTAC1):c.1664G>T (p.Gly555Val)	CRTAC1, LOC124416880 (G555V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592817	NM_018058.7(CRTAC1):c.1927G>A (p.Val643Ile)	CRTAC1, GOLGA7B (V643I)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2458937	NM_018058.7(CRTAC1):c.1864G>A (p.Ala622Thr)	CRTAC1, GOLGA7B (A622T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2384647	NM_018058.7(CRTAC1):c.1828G>A (p.Gly610Ser)	CRTAC1, GOLGA7B (G610S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2363095	NM_018058.7(CRTAC1):c.1882G>A (p.Ala628Thr)	CRTAC1, GOLGA7B (A628T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2270202	NM_018058.7(CRTAC1):c.1967G>C (p.Ser656Thr)	CRTAC1, GOLGA7B (S656T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar