"Ambry Genetics"[submitter] AND "OXR1"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2541217	NM_001198533.2(OXR1):c.106G>A (p.Ala36Thr)	OXR1, OXR1-AS1 (A37T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309097	NM_001198533.2(OXR1):c.131C>A (p.Thr44Asn)	OXR1, OXR1-AS1 (T45N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297650	NM_001198533.2(OXR1):c.221-21120G>A	LOC130000962, OXR1 (R35H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3207586	NM_001198533.2(OXR1):c.281C>G (p.Pro94Arg)	OXR1 (P87R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207587	NM_001198533.2(OXR1):c.493A>G (p.Thr165Ala)	OXR1 (T158A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228715	NM_001198533.2(OXR1):c.524C>T (p.Thr175Ile)	OXR1 (T175I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207588	NM_001198533.2(OXR1):c.539A>C (p.His180Pro)	OXR1 (H181P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259341	NM_001198533.2(OXR1):c.575G>A (p.Gly192Asp)	OXR1 (G185D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207589	NM_001198533.2(OXR1):c.581G>A (p.Arg194Gln)	OXR1 (R187Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220842	NM_001198533.2(OXR1):c.595G>C (p.Val199Leu)	OXR1 (V199L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207590	NM_001198533.2(OXR1):c.608C>T (p.Ser203Phe)	OXR1 (S196F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378595	NM_001198533.2(OXR1):c.614A>C (p.Glu205Ala)	OXR1 (E198A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303776	NM_001198533.2(OXR1):c.622G>A (p.Ala208Thr)	OXR1 (A201T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322758	NM_001198533.2(OXR1):c.625T>A (p.Phe209Ile)	OXR1 (F209I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3303771	NM_001198533.2(OXR1):c.643A>C (p.Lys215Gln)	OXR1 (K208Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470537	NM_001198533.2(OXR1):c.694C>A (p.Leu232Met)	OXR1 (L232M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303773	NM_001198533.2(OXR1):c.821A>G (p.Lys274Arg)	OXR1 (K274R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207591	NM_001198533.2(OXR1):c.847G>A (p.Glu283Lys)	OXR1 (E284K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359878	NM_001198533.2(OXR1):c.866T>C (p.Ile289Thr)	OXR1 (I282T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207809	NM_001198533.2(OXR1):c.872A>T (p.Gln291Leu)	OXR1 (Q292L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213534	NM_001198533.2(OXR1):c.909G>T (p.Met303Ile)	OXR1 (M296I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205250	NM_001198533.2(OXR1):c.931A>G (p.Ile311Val)	OXR1 (I311V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244479	NM_001198533.2(OXR1):c.947G>A (p.Arg316Gln)	OXR1 (R317Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275577	NM_001198533.2(OXR1):c.1033T>C (p.Ser345Pro)	OXR1 (S338P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303770	NM_001198533.2(OXR1):c.1040T>C (p.Ile347Thr)	OXR1 (I340T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221612	NM_001198533.2(OXR1):c.1052T>G (p.Leu351Arg)	OXR1 (L351R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232377	NM_001198533.2(OXR1):c.1232A>C (p.Lys411Thr)	OXR1 (K411T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303777	NM_001198533.2(OXR1):c.1283A>G (p.Asp428Gly)	OXR1 (D421G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303769	NM_001198533.2(OXR1):c.1293A>C (p.Gln431His)	OXR1 (Q431H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261595	NM_001198533.2(OXR1):c.1294G>C (p.Gly432Arg)	OXR1 (G425R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207581	NM_001198533.2(OXR1):c.1439A>G (p.Gln480Arg)	OXR1 (Q481R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553856	NM_001198533.2(OXR1):c.1633C>T (p.Leu545Phe)	OXR1 (L538F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210102	NM_001198533.2(OXR1):c.1664A>G (p.His555Arg)	OXR1 (H548R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207582	NM_001198533.2(OXR1):c.1700G>A (p.Arg567Lys)	OXR1 (R560K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207583	NM_001198533.2(OXR1):c.1729A>G (p.Thr577Ala)	OXR1 (T577A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259101	NM_001198533.2(OXR1):c.1753G>C (p.Asp585His)	OXR1 (D586H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252950	NM_001198533.2(OXR1):c.1793+4A>G	OXR1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2542278	NM_001198533.2(OXR1):c.1898T>C (p.Ile633Thr)	OXR1 (I633T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303775	NM_001198533.2(OXR1):c.1919A>G (p.Glu640Gly)	OXR1 (E633G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263043	NM_001198533.2(OXR1):c.1957-11269G>A	OXR1 (R3H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599390	NM_001198533.2(OXR1):c.1982G>A (p.Arg661His)	OXR1 (R662H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332406	NM_001198533.2(OXR1):c.2014C>T (p.Arg672Cys)	OXR1 (R672C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549896	NM_001198533.2(OXR1):c.2027G>T (p.Arg676Ile)	OXR1 (R676I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3207584	NM_001198533.2(OXR1):c.2050G>A (p.Glu684Lys)	OXR1 (E657K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525166	NM_001198533.2(OXR1):c.2128C>T (p.Pro710Ser)	OXR1 (P676S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483395	NM_001198533.2(OXR1):c.2128C>A (p.Pro710Thr)	OXR1 (P80T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207585	NM_001198533.2(OXR1):c.2162A>G (p.Lys721Arg)	OXR1 (K64R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349177	NM_001198533.2(OXR1):c.2173C>T (p.His725Tyr)	OXR1 (H68Y +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320397	NM_001198533.2(OXR1):c.2175T>A (p.His725Gln)	OXR1 (H698Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303772	NM_001198533.2(OXR1):c.2198A>G (p.Tyr733Cys)	OXR1 (Y699C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272495	NM_001198533.2(OXR1):c.2269G>A (p.Gly757Ser)	OXR1 (G730S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303774	NM_001198533.2(OXR1):c.2438T>C (p.Met813Thr)	OXR1 (M156T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 916499	NM_001198533.2(OXR1):c.2560C>T (p.Arg854Cys)	OXR1 (R197C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2227915	NM_001198533.2(OXR1):c.2569T>C (p.Ser857Pro)	OXR1 (S857P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 54