CGB2[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 2375446	NM_033378.2(CGB2):c.43G>A (p.Gly15Arg)	CGB2 (G15R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235471	NM_033378.2(CGB2):c.55T>C (p.Ser19Pro)	CGB2 (S7P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143880	NM_033378.2(CGB2):c.76C>T (p.Arg26Trp)	CGB2 (R14W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143881	NM_033378.2(CGB2):c.98C>T (p.Thr33Ile)	CGB2 (T33I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458577	NM_033378.2(CGB2):c.142A>G (p.Asn48Asp)	CGB2 (N36D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208026	NM_033378.2(CGB2):c.208C>G (p.Leu70Val)	CGB2 (L58V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266716	NM_033378.2(CGB2):c.319C>A (p.Gln107Lys)	CGB2 (Q95K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473443	NM_033378.2(CGB2):c.320A>G (p.Gln107Arg)	CGB2 (Q107R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2473444	NM_033378.2(CGB2):c.321A>C (p.Gln107His)	CGB2 (Q95H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622581	NM_033378.2(CGB2):c.328C>T (p.Leu110Phe)	CGB2 (L98F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454848	NM_033378.2(CGB2):c.390C>A (p.Asp130Glu)	CGB2 (D118E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769979	NM_033378.2(CGB2):c.404C>A (p.Ala135Asp)	CGB2 (A123D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2211433	NM_033378.2(CGB2):c.422C>G (p.Ala141Gly)	CGB2 (A141G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143879	NM_033378.2(CGB2):c.427C>T (p.Pro143Ser)	CGB2 (P131S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520157	NM_033378.2(CGB2):c.463C>T (p.Pro155Ser)	CGB2 (P155S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650231	NM_033378.2(CGB2):c.468A>G (p.Ser156=)	CGB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign