CGB5[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2458343	NM_033043.2(CGB5):c.65A>G (p.Lys22Arg)	CGB5 (K22R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 769980	NM_033043.2(CGB5):c.72G>A (p.Pro24=)	CGB5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3143885	NM_033043.2(CGB5):c.77G>A (p.Arg26Gln)	CGB5 (R26Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143886	NM_033043.2(CGB5):c.89G>A (p.Arg30His)	CGB5 (R30H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143883	NM_033043.2(CGB5):c.145G>A (p.Val49Ile)	CGB5 (V49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266721	NM_033043.2(CGB5):c.170A>T (p.Tyr57Phe)	CGB5 (Y57F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518725	NM_033043.2(CGB5):c.182T>G (p.Met61Arg)	CGB5 (M61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255322	NM_033043.2(CGB5):c.227T>C (p.Val76Ala)	CGB5 (V76A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266717	NM_033043.2(CGB5):c.233A>C (p.Asn78Thr)	CGB5 (N78T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273129	NM_033043.2(CGB5):c.272G>T (p.Gly91Val)	CGB5 (G91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769981	NM_033043.2(CGB5):c.306C>T (p.Tyr102=)	CGB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3266718	NM_033043.2(CGB5):c.379C>G (p.Pro127Ala)	CGB5 (P127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357790	NM_033043.2(CGB5):c.396C>G (p.Asp132Glu)	CGB5 (D132E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382882	NM_033043.2(CGB5):c.415T>C (p.Ser139Pro)	CGB5 (S139P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466949	NM_033043.2(CGB5):c.428C>G (p.Ala143Gly)	CGB5 (A143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143884	NM_033043.2(CGB5):c.436C>G (p.Pro146Ala)	CGB5 (P146A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463025	NM_033043.2(CGB5):c.441C>G (p.Ser147Arg)	CGB5 (S147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance