GOLGA8B[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281925	NM_001023567.5(GOLGA8B):c.1679A>G (p.Gln560Arg)	GOLGA8B (Q560R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100886	NM_001023567.5(GOLGA8B):c.1668G>C (p.Glu556Asp)	GOLGA8B (E556D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100885	NM_001023567.5(GOLGA8B):c.1666G>C (p.Glu556Gln)	GOLGA8B (E556Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289849	NM_001023567.5(GOLGA8B):c.1639G>A (p.Val547Met)	GOLGA8B (V547M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357118	NM_001023567.5(GOLGA8B):c.1600A>G (p.Lys534Glu)	GOLGA8B (K534E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590579	NM_001023567.5(GOLGA8B):c.1597G>A (p.Asp533Asn)	GOLGA8B (D533N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2347076	NM_001023567.5(GOLGA8B):c.1574C>T (p.Ala525Val)	GOLGA8B (A525V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100884	NM_001023567.5(GOLGA8B):c.1515C>A (p.His505Gln)	GOLGA8B (H505Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377833	NM_001023567.5(GOLGA8B):c.1513C>T (p.His505Tyr)	GOLGA8B (H505Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2493736	NM_001023567.5(GOLGA8B):c.1511G>A (p.Gly504Glu)	GOLGA8B (G504E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345549	NM_001023567.5(GOLGA8B):c.1477G>A (p.Asp493Asn)	GOLGA8B (D493N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 774220	NM_001023567.5(GOLGA8B):c.325-9T>C	GOLGA8B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2570386	NM_001023567.5(GOLGA8B):c.263T>G (p.Leu88Arg)	GOLGA8B (L88R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100888	NM_001023567.5(GOLGA8B):c.239C>T (p.Ser80Leu)	GOLGA8B (S80L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100887	NM_001023567.5(GOLGA8B):c.181T>G (p.Ser61Ala)	GOLGA8B (S61A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 221869	GRCh37/hg19 15q14(chr15:34800595-35026251)x3	GOLGA8B	Copy number gain	Premature ovarian failure	GBenign