"Ambry Genetics"[submitter] AND "PAOX"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3208387	NM_152911.4(PAOX):c.187G>A (p.Val63Met)	PAOX (V63M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208388	NM_152911.4(PAOX):c.227G>T (p.Arg76Leu)	PAOX (R76L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304210	NM_152911.4(PAOX):c.337G>A (p.Val113Met)	PAOX (V113M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208389	NM_152911.4(PAOX):c.346G>T (p.Ala116Ser)	PAOX (A116S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457032	NM_152911.4(PAOX):c.383C>T (p.Ala128Val)	PAOX (A128V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549676	NM_152911.4(PAOX):c.392C>G (p.Ala131Gly)	PAOX (A131G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278863	NM_152911.4(PAOX):c.406G>A (p.Gly136Ser)	PAOX (G136S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304211	NM_152911.4(PAOX):c.447G>T (p.Glu149Asp)	PAOX (E149D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319186	NM_152911.4(PAOX):c.670G>A (p.Gly224Ser)	PAOX (G224S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507502	NM_152911.4(PAOX):c.806C>T (p.Ser269Leu)	PAOX (S269L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3208391	NM_152911.4(PAOX):c.812A>G (p.Glu271Gly)	PAOX (E271G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208392	NM_152911.4(PAOX):c.863C>T (p.Pro288Leu)	PAOX (P288L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543520	NM_152911.4(PAOX):c.874C>A (p.Leu292Ile)	PAOX (L292I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2542248	NM_152911.4(PAOX):c.987G>T (p.Glu329Asp)	PAOX (E329D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2363345	NM_152911.4(PAOX):c.1008C>G (p.Cys336Trp)	PAOX (C336W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465627	NM_152911.4(PAOX):c.1010A>G (p.Gln337Arg)	PAOX (Q337R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298132	NM_152911.4(PAOX):c.1071G>C (p.Gln357His)	PAOX (Q357H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208380	NM_152911.4(PAOX):c.1094T>C (p.Ile365Thr)	PAOX (I365T)	Single nucleotide variant (missense variant +2 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 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 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 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 2235793	NM_152911.4(PAOX):c.1222C>T (p.Arg408Trp)	LOC124416936, PAOX (R408W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465777	NM_152911.4(PAOX):c.1270C>T (p.Arg424Trp)	PAOX (R424W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2289078	NM_152911.4(PAOX):c.1276C>T (p.Arg426Cys)	PAOX (R426C)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2610588	NM_152911.4(PAOX):c.1310A>C (p.Tyr437Ser)	PAOX (Y437S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208384	NM_152911.4(PAOX):c.1381G>A (p.Ala461Thr)	PAOX (A461T)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2513935	NM_152911.4(PAOX):c.1384G>A (p.Gly462Ser)	PAOX (G462S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208385	NM_152911.4(PAOX):c.1394T>A (p.Leu465His)	PAOX (L465H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3208386	NM_152911.4(PAOX):c.1431G>A (p.Thr477=)	PAOX (V425I)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 2511087	NM_152911.4(PAOX):c.1445C>T (p.Thr482Met)	PAOX (T482M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3304212	NM_152911.4(PAOX):c.1446G>A (p.Thr482=)	PAOX (A430T)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 2568918	NM_152911.4(PAOX):c.1449C>T (p.His483=)	PAOX (R431W)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 2539905	NM_152911.4(PAOX):c.1483C>T (p.Arg495Cys)	PAOX (P442L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 39