55074[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	ANKRD46, ATP6V1C1 +234 more	Copy number loss	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	RRM2B, RSPO2 +188 more	Copy number loss	See cases	GPathogenic
Select item 144641	GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	ABRA, ANGPT1 +154 more	Copy number loss	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57335	GRCh38/hg38 8q22.3-23.1(chr8:105053530-107803535)x1	ABRA, ANGPT1 +30 more	Copy number loss	See cases	GPathogenic
Select item 149214	GRCh38/hg38 8q23.1(chr8:105374298-106481199)x3	LOC110121208, LOC113783881 +8 more	Copy number gain	See cases	GUncertain significance
Select item 148739	GRCh38/hg38 8q23.1(chr8:105380252-106481199)x3	LOC110121208, LOC113783881 +8 more	Copy number gain	See cases	GLikely benign
Select item 146592	GRCh38/hg38 8q23.1(chr8:106295584-106657774)x3	LOC130000959, LOC130000960 +3 more	Copy number gain	See cases	GBenign
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 3372527	NM_001198533.2(OXR1):c.221-21196A>G	LOC130000962, OXR1 (K10E)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1805978	NM_001198533.2(OXR1):c.221-21184C>T	LOC130000962, OXR1 (L14F)	Single nucleotide variant (missense variant +1 more)	Congenital cerebellar hypoplasia	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 3031688	NM_001198533.2(OXR1):c.221-3dup	OXR1	Duplication (intron variant)	OXR1-related disorder	GLikely benign
Select item 1678542	NM_001198533.2(OXR1):c.233A>G (p.Lys78Arg)	OXR1 (K71R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 3044824	NM_001198533.2(OXR1):c.526-4_526-2del	OXR1	Deletion (splice acceptor variant)	OXR1-related disorder	GLikely benign
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 2506877	NM_001198533.2(OXR1):c.959A>G (p.Asn320Ser)	OXR1 (N313S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068230	NM_001198533.2(OXR1):c.1028A>G (p.Glu343Gly)	OXR1 (E336G +2 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia	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 694396	NM_001198533.2(OXR1):c.1100C>G (p.Ser367Ter)	OXR1 (S360* +2 more)	Single nucleotide variant (nonsense)	Congenital cerebellar hypoplasia	GPathogenic
Select item 694386	NM_018002.3(OXR1):c.[1100C>G;2082+1G>T]	OXR1 (S360* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability +2 more	GLikely pathogenic
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 873012	NM_001198533.2(OXR1):c.1324del (p.Ser442fs)	OXR1 (S435fs +2 more)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 694387	NM_001198533.2(OXR1):c.1324del (p.Ser442fs)	OXR1 (S435fs +2 more)	Deletion (frameshift variant)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 2573669	NM_001198533.2(OXR1):c.1329A>G (p.Ile443Met)	OXR1 (I436M +2 more)	Single nucleotide variant (missense variant)	not provided	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 916498	NM_001198533.2(OXR1):c.1459C>G (p.Gln487Glu)	OXR1 (Q480E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372526	NM_001198533.2(OXR1):c.1624+2dup	OXR1	Duplication (splice donor variant)	not provided	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 1419349	NM_001198533.2(OXR1):c.1643A>G (p.Glu548Gly)	OXR1 (E541G +2 more)	Single nucleotide variant (missense variant)	not provided	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 2434535	NM_001198533.2(OXR1):c.1957-11262G>A	OXR1 (W5*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 1677178	NM_001198533.2(OXR1):c.2037+3G>A	OXR1	Single nucleotide variant (intron variant)	not specified	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 694397	NM_001198533.2(OXR1):c.2163+1G>T	OXR1	Single nucleotide variant (splice donor variant)	Congenital cerebellar hypoplasia	GPathogenic
Select item 996959	NM_001198533.2(OXR1):c.2163+5G>A	OXR1	Single nucleotide variant (intron variant)	Congenital cerebellar hypoplasia	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 2441971	NM_001198533.2(OXR1):c.2308G>A (p.Asp770Asn)	OXR1 (D113N +5 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 873007	NM_001198533.2(OXR1):c.2317-1G>C	OXR1	Single nucleotide variant (splice acceptor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 694388	NM_001198533.2(OXR1):c.2317-1G>C	OXR1	Single nucleotide variant (splice acceptor variant)	Congenital cerebellar hypoplasia	GLikely pathogenic
Select item 1326983	NM_001198533.2(OXR1):c.2340G>A (p.Glu780=)	OXR1	Single nucleotide variant (synonymous variant)	Congenital cerebellar hypoplasia +1 more	GBenign
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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