"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CPOX"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 459	NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys)	CPOX (R447C)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +1 more	GConflicting classifications of pathogenicity
Select item 2682840	NM_000097.7(CPOX):c.1172+5G>T	CPOX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1693874	NM_000097.7(CPOX):c.938C>G (p.Pro313Arg)	CPOX (P313R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682841	NM_000097.7(CPOX):c.835G>A (p.Gly279Ser)	CPOX (G279S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405402	NM_000097.7(CPOX):c.666G>A (p.Met222Ile)	CPOX (M222I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 845386	NM_000097.7(CPOX):c.601G>A (p.Glu201Lys)	CPOX (E201K)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +1 more	GPathogenic/Likely pathogenic
Select item 872083	NM_000097.7(CPOX):c.520G>A (p.Ala174Thr)	CPOX (A174T)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +1 more	GConflicting classifications of pathogenicity
Select item 346984	NM_000097.7(CPOX):c.395C>T (p.Ala132Val)	CPOX (A132V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2682842	NM_000097.7(CPOX):c.87G>T (p.Gln29His)	CPOX, LOC129937121 (Q29H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance