ClinVar for Gene (Select 55074) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3044824	NM_001198533.2(OXR1):c.526-4_526-2del	OXR1	Deletion (splice acceptor variant)	OXR1-related disorder	GLikely benign
Select item 3031688	NM_001198533.2(OXR1):c.221-3dup	OXR1	Duplication (intron variant)	OXR1-related disorder	GLikely benign
Select item 2685319	GRCh37/hg19 8q23.1(chr8:107236873-107725506)x1	OXR1	Copy number loss	not provided	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 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 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 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 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 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 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 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 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 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 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 2434535	NM_001198533.2(OXR1):c.1957-11262G>A	OXR1 (W5*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2227915	NM_001198533.2(OXR1):c.2569T>C (p.Ser857Pro)	OXR1 (S857P +5 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 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 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 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 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 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 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
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 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
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 1677178	NM_001198533.2(OXR1):c.2037+3G>A	OXR1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527461	GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)	AARD, ABRA +28 more	Copy number loss	not specified	GPathogenic
Select item 1527460	GRCh37/hg19 8q23.1(chr8:106384563-107502955)	OXR1, ZFPM2	Copy number gain	not specified	GUncertain significance
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
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 1326983	NM_001198533.2(OXR1):c.2340G>A (p.Glu780=)	OXR1	Single nucleotide variant (synonymous variant)	Congenital cerebellar hypoplasia	GBenign
Select item 996959	NM_001198533.2(OXR1):c.2163+5G>A	OXR1	Single nucleotide variant (intron variant)	Congenital cerebellar hypoplasia	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 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 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 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 694397	NM_001198533.2(OXR1):c.2163+1G>T	OXR1	Single nucleotide variant (splice donor variant)	Congenital cerebellar hypoplasia	GPathogenic
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 694388	NM_001198533.2(OXR1):c.2317-1G>C	OXR1	Single nucleotide variant (splice acceptor variant)	Congenital cerebellar hypoplasia	GLikely pathogenic
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 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 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 686305	GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1	ABRA, ANGPT1 +20 more	Copy number loss	not provided	GUncertain significance
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 493593	GRCh37/hg19 8q23.1(chr8:107509850-107773415)x0	ABRA, OXR1	Copy number loss	not provided	GUncertain significance
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441772	GRCh37/hg19 8q23.1(chr8:106377557-107502955)x3	OXR1, ZFPM2	Copy number gain	See cases	GUncertain significance
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 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	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic

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