"Ambry Genetics"[submitter] AND "GOLGA7B"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2211898	NM_001010917.3(GOLGA7B):c.146G>A (p.Arg49Gln)	GOLGA7B (R49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100883	NM_001010917.3(GOLGA7B):c.181G>A (p.Gly61Arg)	GOLGA7B (G61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395167	NM_001010917.3(GOLGA7B):c.206T>C (p.Ile69Thr)	GOLGA7B (I69T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336761	NM_001010917.3(GOLGA7B):c.390G>T (p.Arg130Ser)	GOLGA7B (R130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 2592817	NM_001010917.3(GOLGA7B):c.411C>T (p.Tyr137=)	CRTAC1, GOLGA7B (V643I)	Single nucleotide variant (synonymous 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 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