ClinVar for MedGen (Select 1849794) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577468	NM_001122764.3(PPOX):c.808G>T (p.Val270Leu)	PPOX (V270L +3 more)	Single nucleotide variant (missense variant)	Variegate porphyria, childhood-onset	GPathogenic
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 2577466	NM_001122764.3(PPOX):c.1043A>G (p.Tyr348Cys)	PPOX (Y186C +2 more)	Single nucleotide variant (missense variant +1 more)	Variegate porphyria, childhood-onset	GPathogenic
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
Select item 915371	NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg)	PPOX (G325R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 8704	NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg)	PPOX (P256R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 8703	NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr)	PPOX (I12T)	Single nucleotide variant (missense variant +1 more)	Variegate porphyria +1 more	GPathogenic
Select item 8702	PPOX, IVS11DS, G-A, -1	PPOX	Single nucleotide variant	Variegate porphyria +1 more	GPathogenic
Select item 8701	NM_001122764.3(PPOX):c.657_658insAAGGCCAGCGCC (p.Ala219_Leu220insLysAlaSerAla)	PPOX	Insertion (inframe_insertion)	Variegate porphyria, childhood-onset	GPathogenic
Select item 8698	NM_001122764.3(PPOX):c.1046A>C (p.Asp349Ala)	PPOX (D349A +3 more)	Single nucleotide variant (missense variant +1 more)	Variegate porphyria, childhood-onset	GPathogenic
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 8694	NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)	PPOX (R168C +3 more)	Single nucleotide variant (missense variant)	Variegate porphyria, childhood-onset +1 more	GPathogenic/Likely pathogenic