PPOX[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
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 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	DEDD, F11R +63 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 1168302	NC_000001.11:g.161165769A>G	PPOX	Single nucleotide variant	not provided	GBenign
Select item 293237	NM_001122764.3(PPOX):c.-251G>C	PPOX	Single nucleotide variant (5 prime UTR variant)	Variegate porphyria	GUncertain significance
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 293239	NM_001122764.3(PPOX):c.-246G>T	PPOX	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877039	NM_001122764.3(PPOX):c.-211C>A	PPOX	Single nucleotide variant (5 prime UTR variant)	Variegate porphyria	GUncertain significance
Select item 293240	NM_001122764.3(PPOX):c.-180T>C	PPOX	Single nucleotide variant (5 prime UTR variant)	Variegate porphyria	GUncertain significance
Select item 293241	NM_001122764.3(PPOX):c.-174A>G	PPOX	Single nucleotide variant (5 prime UTR variant)	Variegate porphyria	GUncertain significance
Select item 293242	NM_001122764.3(PPOX):c.-151G>T	PPOX	Single nucleotide variant (5 prime UTR variant)	Variegate porphyria	GLikely benign
Select item 293243	NM_001122764.3(PPOX):c.-149G>T	PPOX	Single nucleotide variant (5 prime UTR variant)	Variegate porphyria	GUncertain significance
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 2202870	NM_001122764.3(PPOX):c.-9G>A	PPOX	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 293245	NM_001122764.3(PPOX):c.-2G>T	PPOX	Single nucleotide variant (5 prime UTR variant)	Variegate porphyria	GUncertain significance
Select item 293246	NM_001122764.3(PPOX):c.-1C>T	PPOX	Single nucleotide variant (5 prime UTR variant)	Variegate porphyria	GUncertain significance
Select item 655883	NM_001122764.3(PPOX):c.2T>C (p.Met1Thr)	PPOX (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1425796	NM_001122764.3(PPOX):c.8G>A (p.Arg3Gln)	PPOX (R3Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1513794	NM_001122764.3(PPOX):c.23T>C (p.Leu8Pro)	PPOX (L8P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 855621	NM_001122764.3(PPOX):c.29G>A (p.Gly10Glu)	PPOX (G10E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 936759	NM_001122764.3(PPOX):c.31G>A (p.Gly11Ser)	PPOX (G11S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 661095	NM_001122764.3(PPOX):c.31G>T (p.Gly11Cys)	PPOX (G11C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 8703	NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr)	PPOX (I12T)	Single nucleotide variant (missense variant +1 more)	Variegate porphyria, childhood-onset +1 more	GPathogenic
Select item 1501493	NM_001122764.3(PPOX):c.38G>A (p.Ser13Asn)	PPOX (S13N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 8695	NM_001122764.3(PPOX):c.59A>C (p.His20Pro)	PPOX (H20P)	Single nucleotide variant (missense variant +1 more)	Variegate porphyria	GPathogenic
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 293247	NM_001122764.3(PPOX):c.69G>T (p.Arg23=)	PPOX	Single nucleotide variant (synonymous variant +1 more)	Variegate porphyria	GUncertain significance
Select item 1053474	NM_001122764.3(PPOX):c.70G>A (p.Ala24Thr)	PPOX (A24T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1081220	NM_001122764.3(PPOX):c.71C>T (p.Ala24Val)	PPOX (A24V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 737081	NM_001122764.3(PPOX):c.72C>A (p.Ala24=)	PPOX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 649718	NM_001122764.3(PPOX):c.78C>A (p.Cys26Ter)	PPOX (C26*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2542371	NM_001122764.3(PPOX):c.79C>G (p.Pro27Ala)	PPOX (P27A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2894196	NM_001122764.3(PPOX):c.82C>A (p.Pro28Thr)	PPOX (P28T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2382026	NM_001122764.3(PPOX):c.82C>G (p.Pro28Ala)	PPOX (P28A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 961039	NM_001122764.3(PPOX):c.83C>T (p.Pro28Leu)	PPOX (P28L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3067865	NM_001122764.3(PPOX):c.87+1G>A	PPOX	Single nucleotide variant (splice donor variant)	Variegate porphyria	GLikely pathogenic
Select item 2033732	NM_001122764.3(PPOX):c.87+8C>A	PPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 748290	NM_001122764.3(PPOX):c.87+10C>T	PPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 293248	NM_001122764.3(PPOX):c.87+13C>T	PPOX	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1256845	NM_001122764.3(PPOX):c.88-47C>G	PPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2753315	NM_001122764.3(PPOX):c.88-18_88-15del	PPOX	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2840044	NM_001122764.3(PPOX):c.97G>T (p.Val33Leu)	PPOX (V33L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 943820	NM_001122764.3(PPOX):c.100G>A (p.Glu34Lys)	PPOX (E34K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1072574	NM_001122764.3(PPOX):c.133del (p.Ser45fs)	PPOX (S45fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2771852	NM_001122764.3(PPOX):c.134C>A (p.Ser45Tyr)	PPOX (S45Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1072575	NM_001122764.3(PPOX):c.139C>T (p.Arg47Ter)	PPOX (R47*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2130704	NM_001122764.3(PPOX):c.157A>G (p.Ile53Val)	PPOX (I53V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2966218	NM_001122764.3(PPOX):c.168T>C (p.Leu56=)	PPOX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 8696	NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp)	PPOX (R59W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 3029153	NM_001122764.3(PPOX):c.182T>A (p.Ile61Asn)	PPOX (I61N)	Single nucleotide variant (missense variant +1 more)	PPOX-related disorder	GUncertain significance
Select item 189241	NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer)	PPOX	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2002513	NM_001122764.3(PPOX):c.208C>T (p.Arg70Trp)	PPOX (R70W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3020621	NM_001122764.3(PPOX):c.213C>A (p.Thr71=)	PPOX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2202871	NM_001122764.3(PPOX):c.218T>C (p.Leu73Pro)	PPOX (L73P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1669324	NM_001122764.3(PPOX):c.219C>T (p.Leu73=)	PPOX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2734007	NM_001122764.3(PPOX):c.251T>G (p.Val84Gly)	PPOX (V89G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1472461	NM_001122764.3(PPOX):c.254T>C (p.Leu85Pro)	PPOX (L85P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
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 1916962	NM_001122764.3(PPOX):c.276A>T (p.Pro92=)	PPOX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2244906	NM_001122764.3(PPOX):c.278C>T (p.Ala93Val)	PPOX (A98V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1603067	NM_001122764.3(PPOX):c.300C>T (p.Tyr100=)	PPOX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1904413	NM_001122764.3(PPOX):c.306C>T (p.Gly102=)	PPOX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2151517	NM_001122764.3(PPOX):c.322C>G (p.Leu108Val)	PPOX (L108V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2259622	NM_001122764.3(PPOX):c.332G>T (p.Gly111Val)	PPOX (G111V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1704297	NM_001122764.3(PPOX):c.338G>C (p.Arg113Thr)	PPOX (R113T +1 more)	Single nucleotide variant (missense variant +2 more)	Variegate porphyria	GPathogenic
Select item 1067847	NM_001122764.3(PPOX):c.338+2dup	PPOX	Duplication (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 834524	NM_001122764.3(PPOX):c.338+1G>A	PPOX	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 293249	NM_001122764.3(PPOX):c.338+9A>G	PPOX	Single nucleotide variant (intron variant)	Variegate porphyria	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 1453380	NM_001350128.2(PPOX):c.354-415del	PPOX	Deletion (intron variant)	not provided	GPathogenic
Select item 874256	NM_001122764.3(PPOX):c.349C>T (p.Arg117Cys)	PPOX (R117C)	Single nucleotide variant (missense variant +2 more)	Variegate porphyria	GUncertain significance
Select item 293250	NM_001122764.3(PPOX):c.360C>T (p.Pro120=)	PPOX	Single nucleotide variant (synonymous variant +2 more)	Variegate porphyria +1 more	GConflicting classifications of pathogenicity
Select item 2771314	NM_001122764.3(PPOX):c.361C>G (p.Pro121Ala)	PPOX (P121A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1002893	NM_001122764.3(PPOX):c.361C>A (p.Pro121Thr)	PPOX (P121T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2879430	NM_001122764.3(PPOX):c.366C>T (p.Phe122=)	PPOX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1454341	NM_001122764.3(PPOX):c.384_397dup (p.Glu133delinsGlyLeuGlyTer)	PPOX	Duplication (nonsense +2 more)	not provided	GPathogenic
Select item 1457796	NM_001122764.3(PPOX):c.397G>T (p.Glu133Ter)	PPOX (E133*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2060020	NM_001122764.3(PPOX):c.399G>A (p.Glu133=)	PPOX	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2577467	NM_001122764.3(PPOX):c.413G>C (p.Arg138Pro)	PPOX	Single nucleotide variant (missense variant +2 more)	Variegate porphyria, childhood-onset	GPathogenic
Select item 2500825	NM_001122764.3(PPOX):c.420del (p.Glu141fs)	B4GALT3, PPOX +1 more (E141fs)	Deletion (5 prime UTR variant +2 more)	Variegate porphyria	GPathogenic
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 2801097	NM_001122764.3(PPOX):c.441C>G (p.His147Gln)	PPOX (H147Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 664272	NM_001122764.3(PPOX):c.454C>T (p.Arg152Cys)	PPOX (R152C)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 1909466	NM_001122764.3(PPOX):c.455G>A (p.Arg152His)	PPOX (A10T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 293251	NM_001122764.3(PPOX):c.471+3G>A	PPOX	Single nucleotide variant (intron variant)	Variegate porphyria +1 more	GUncertain significance
Select item 2034272	NM_001122764.3(PPOX):c.471+10G>C	PPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610996	NM_001122764.3(PPOX):c.471+14A>G	PPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1161298	NM_001122764.3(PPOX):c.477G>A (p.Ala159=)	PPOX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1052037	NM_001122764.3(PPOX):c.488T>C (p.Met163Thr)	PPOX (M130T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804982	NM_001122764.3(PPOX):c.491A>G (p.Asp164Gly)	PPOX (D131G +3 more)	Single nucleotide variant (missense variant)	Variegate porphyria	GUncertain significance
Select item 1002039	NM_001122764.3(PPOX):c.494G>A (p.Ser165Asn)	PPOX (S132N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8694	NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)	PPOX (R168C +3 more)	Single nucleotide variant (missense variant)	Variegate porphyria +1 more	GPathogenic/Likely pathogenic
Select item 1442541	NM_001122764.3(PPOX):c.503G>T (p.Arg168Leu)	PPOX (R6L +3 more)	Single nucleotide variant (missense variant)	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 2577464	NM_001122764.3(PPOX):c.506G>A (p.Gly169Glu)	PPOX (G136E +2 more)	Single nucleotide variant (missense variant)	Variegate porphyria, childhood-onset	GPathogenic

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