"GeneDx"[submitter] AND "CPOX"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 151076	GRCh38/hg38 3q11.2-12.1(chr3:98567691-98609411)x3	CPOX, LOC129937121 +1 more	Copy number gain	See cases	GUncertain significance
Select item 346967	NM_000097.7(CPOX):c.*162A>C	CPOX	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 453	NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu)	CPOX (K404E)	Single nucleotide variant (missense variant)	Harderoporphyria +2 more	GPathogenic/Likely pathogenic
Select item 1287194	NM_000097.7(CPOX):c.1172+213G>A	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1691675	NM_000097.7(CPOX):c.1133C>T (p.Thr378Ile)	CPOX (T378I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 346976	NM_000097.7(CPOX):c.1054C>T (p.Arg352Cys)	CPOX (R352C)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +1 more	GBenign
Select item 449558	NM_000097.7(CPOX):c.995G>A (p.Arg332Gln)	CPOX (R332Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1266620	NM_000097.7(CPOX):c.954-222A>G	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248269	NM_000097.7(CPOX):c.954-282A>G	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175575	NM_000097.7(CPOX):c.954-284T>C	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252313	NM_000097.7(CPOX):c.954-285T>G	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422712	NM_000097.7(CPOX):c.939dup (p.Lys314fs)	CPOX (K314fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1306846	NM_000097.7(CPOX):c.937C>A (p.Pro313Thr)	CPOX (P313T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188556	NM_000097.7(CPOX):c.923G>A (p.Gly308Asp)	CPOX (G308D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449559	NM_000097.7(CPOX):c.877G>A (p.Ala293Thr)	CPOX (A293T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429271	NM_000097.7(CPOX):c.832G>A (p.Gly278Ser)	CPOX (G278S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287101	NM_000097.7(CPOX):c.812-184C>T	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227514	NM_000097.7(CPOX):c.812-246C>T	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248705	NM_000097.7(CPOX):c.811+322C>G	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2444760	NM_000097.7(CPOX):c.811+5G>C	CPOX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 426217	NM_000097.7(CPOX):c.677G>A (p.Gly226Glu)	CPOX (G226E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003344	NM_000097.7(CPOX):c.625GTT[1] (p.Val210del)	CPOX (V210del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 489255	NM_000097.7(CPOX):c.557-10C>G	CPOX	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1232098	NM_000097.7(CPOX):c.557-86G>A	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281669	NM_000097.7(CPOX):c.557-191T>C	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 346983	NM_000097.7(CPOX):c.487G>T (p.Val163Leu)	CPOX (V163L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1303198	NM_000097.7(CPOX):c.404T>C (p.Val135Ala)	CPOX (V135A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1312862	NM_000097.7(CPOX):c.352G>A (p.Glu118Lys)	CPOX, LOC129937121 (E118K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 346987	NM_000097.7(CPOX):c.299A>T (p.Glu100Val)	CPOX, LOC129937121 (E100V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 454	NM_000097.7(CPOX):c.127_131dup (p.Gly45fs)	CPOX, LOC129937121 (G45fs)	Microsatellite (frameshift variant)	CPOX-related disorder +1 more	GPathogenic
Select item 1309643	NM_000097.7(CPOX):c.50C>T (p.Ala17Val)	CPOX, LOC129937121 (A17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 346996	NM_000097.7(CPOX):c.33C>T (p.Gly11=)	CPOX, LOC129937121	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1258130	NC_000003.12:g.98593737G>C	CPOX	Single nucleotide variant	not provided	GBenign

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Items: 37