Related gene-specific medical variations for Gene (Select 5498) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362540	NM_001122764.3(PPOX):c.1108_1119del (p.Gly370_Trp373del)	PPOX	Deletion	Variegate porphyria	GUncertain significance
Select item 3259472	NM_003779.4(B4GALT3):c.503C>T (p.Thr168Ile)	B4GALT3, PPOX (T168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259462	NM_003779.4(B4GALT3):c.310C>T (p.Arg104Trp)	B4GALT3, PPOX (R104W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259452	NM_003779.4(B4GALT3):c.123T>A (p.Asp41Glu)	B4GALT3, PPOX (D41E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132707	NM_003779.4(B4GALT3):c.1117C>T (p.Arg373Trp)	B4GALT3, PPOX (R373W)	Single nucleotide variant (missense variant)	not specified	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 2665040	NM_001122764.3(PPOX):c.688C>T (p.Arg230Cys)	PPOX (R197C +3 more)	Single nucleotide variant (missense variant)	Variegate porphyria	GUncertain significance
Select item 2623303	NM_003779.4(B4GALT3):c.1019C>T (p.Ala340Val)	B4GALT3, PPOX (A340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612447	NM_003779.4(B4GALT3):c.416G>A (p.Arg139His)	B4GALT3, PPOX (R139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609799	NM_003779.4(B4GALT3):c.400C>T (p.Arg134Trp)	B4GALT3, PPOX (R134W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606602	NM_003779.4(B4GALT3):c.841A>G (p.Thr281Ala)	B4GALT3, PPOX (T281A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550320	NM_003779.4(B4GALT3):c.758A>G (p.Asn253Ser)	B4GALT3, PPOX (N253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534887	NM_003779.4(B4GALT3):c.644G>A (p.Arg215His)	B4GALT3, PPOX (R215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511350	NM_003779.4(B4GALT3):c.1091C>T (p.Ala364Val)	B4GALT3, PPOX (A364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455724	NM_003779.4(B4GALT3):c.1076C>G (p.Pro359Arg)	B4GALT3, PPOX (P359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2435222	NM_001122764.3(PPOX):c.761G>A (p.Gly254Asp)	PPOX (G118D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2388826	NM_003779.4(B4GALT3):c.17T>C (p.Leu6Pro)	B4GALT3, PPOX (L6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346963	NM_003779.4(B4GALT3):c.1162G>T (p.Ala388Ser)	B4GALT3, PPOX (A388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330935	NM_003779.4(B4GALT3):c.202C>T (p.Pro68Ser)	B4GALT3, PPOX (P68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288261	NM_003779.4(B4GALT3):c.727G>A (p.Asp243Asn)	B4GALT3, PPOX (D243N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217510	NM_003779.4(B4GALT3):c.119G>A (p.Arg40Gln)	B4GALT3, PPOX (R40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208698	NM_003779.4(B4GALT3):c.634C>T (p.Arg212Trp)	B4GALT3, PPOX (R212W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8702	PPOX, IVS11DS, G-A, -1	PPOX	Single nucleotide variant	Variegate porphyria, childhood-onset +1 more	GPathogenic

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Links from Gene

Items: 23