Related gene-specific medical variations for Gene (Select 196743) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208382	NM_152911.4(PAOX):c.1200T>C (p.Leu400=)	LOC124416936, PAOX (F316S)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3208381	NM_152911.4(PAOX):c.1172T>C (p.Met391Thr)	LOC124416936, PAOX (M391T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603591	NM_152911.4(PAOX):c.1152C>T (p.Ala384=)	LOC124416936, PAOX (P300L)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2558688	NM_152911.4(PAOX):c.74G>T (p.Gly25Val)	LOC130005026, PAOX (G25V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530184	NM_152911.4(PAOX):c.1142G>A (p.Gly381Glu)	LOC124416936, PAOX (G297S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524799	NM_152911.4(PAOX):c.100G>T (p.Gly34Cys)	LOC130005026, PAOX (G34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521319	NM_152911.4(PAOX):c.163C>T (p.Arg55Cys)	LOC130005026, PAOX (R55C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356722	NM_152911.4(PAOX):c.164G>A (p.Arg55His)	LOC130005026, PAOX (R55H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333779	NM_152911.4(PAOX):c.128T>C (p.Val43Ala)	LOC130005026, PAOX (V43A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235793	NM_152911.4(PAOX):c.1222C>T (p.Arg408Trp)	LOC124416936, PAOX (R408W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance