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

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 293238	NM_001122764.3(PPOX):c.-247C>A	PPOX	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 293244	NM_001122764.3(PPOX):c.-128C>G	PPOX	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 2446702	NM_001122764.3(PPOX):c.67C>T (p.Arg23Trp)	PPOX (R23W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1256845	NM_001122764.3(PPOX):c.88-47C>G	PPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662309	NM_001122764.3(PPOX):c.245C>T (p.Ser82Leu)	PPOX (S82L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1305894	NM_001122764.3(PPOX):c.263G>T (p.Arg88Leu)	PPOX (R88L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1256895	NM_001122764.3(PPOX):c.338+98del	PPOX	Deletion (intron variant)	not provided	GBenign
Select item 1277230	NM_001122764.3(PPOX):c.338+182G>A	PPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 424524	NM_001122764.3(PPOX):c.367T>A (p.Ser123Thr)	PPOX (S123T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2497988	NM_001122764.3(PPOX):c.427G>A (p.Asp143Asn)	PPOX (D143N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 8697	NM_001122764.3(PPOX):c.503G>A (p.Arg168His)	PPOX (R168H +3 more)	Single nucleotide variant (missense variant)	See cases +2 more	GPathogenic/Likely pathogenic
Select item 293255	NM_001122764.3(PPOX):c.911G>A (p.Arg304His)	PPOX (R304H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 432834	NM_001122764.3(PPOX):c.968_970del (p.Gly323del)	PPOX (G323del +3 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1057042	NM_001122764.3(PPOX):c.987+5G>T	PPOX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1234254	NM_001122764.3(PPOX):c.987+137C>T	PPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305738	NM_001122764.3(PPOX):c.1006C>G (p.Pro336Ala)	PPOX (P174A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1304618	NM_001122764.3(PPOX):c.1018_1020del (p.Asp340del)	PPOX (D178del +3 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3373527	NM_001122764.3(PPOX):c.1249-2A>G	PPOX	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2202874	NM_001122764.3(PPOX):c.1287del (p.Lys429fs)	PPOX (K392fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 2734010	NM_001122764.3(PPOX):c.1330_1331del (p.Leu444fs)	PPOX (L308fs +4 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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Items: 21