Related gene-specific medical variations for Gene (Select 401647) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2592817	NM_001010917.3(GOLGA7B):c.411C>T (p.Tyr137=)	GOLGA7B, CRTAC1 (V643I)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2458937	NM_001010917.3(GOLGA7B):c.474C>T (p.Ser158=)	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_001010917.3(GOLGA7B):c.456C>T (p.Ser152=)	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

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