COPZ1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076292	NM_016057.3(COPZ1):c.35C>T (p.Thr12Ile)	COPZ1 (T12I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3076296	NM_016057.3(COPZ1):c.96C>T (p.Asp32=)	COPZ1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3268976	NM_016057.3(COPZ1):c.173A>T (p.Glu58Val)	COPZ1 (E58V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076291	NM_016057.3(COPZ1):c.280C>A (p.Leu94Met)	COPZ1 (L94M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623062	NM_016057.3(COPZ1):c.325G>A (p.Val109Ile)	COPZ1 (V109I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076293	NM_016057.3(COPZ1):c.412G>C (p.Asp138His)	COPZ1 (D138H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076294	NM_016057.3(COPZ1):c.433C>T (p.Arg145Trp)	COPZ1 (R122W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556929	NM_016057.3(COPZ1):c.434G>A (p.Arg145Gln)	COPZ1 (R145Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746724	NM_016057.3(COPZ1):c.477C>A (p.Thr159=)	COPZ1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign