OR2A2[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 57046	GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1	ARHGEF35, ARHGEF35-AS1 +110 more	Copy number loss	See cases	GPathogenic
Select item 149221	GRCh38/hg38 7q35(chr7:143560424-144169056)x3	CTAGE15, CTAGE6 +19 more	Copy number gain	See cases	GLikely benign
Select item 149558	GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4	ACTR3C, ARHGEF35 +172 more	Copy number gain	See cases	GLikely pathogenic
Select item 153908	GRCh38/hg38 7q35(chr7:143728625-144176869)x1	CTAGE6, LOC129389908 +16 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 155173	GRCh38/hg38 7q35(chr7:143733925-144255312)x3	ARHGEF35, ARHGEF35-AS1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 146155	GRCh38/hg38 7q35(chr7:143735739-144155939)x3	CTAGE6, LOC129389908 +15 more	Copy number gain	See cases	GBenign
Select item 144390	GRCh38/hg38 7q35(chr7:143735739-144254897)x3	ARHGEF35, ARHGEF35-AS1 +20 more	Copy number gain	See cases	GBenign
Select item 150974	GRCh38/hg38 7q35(chr7:143735880-144155736)x3	CTAGE6, LOC129389908 +15 more	Copy number gain	See cases	GLikely benign
Select item 146871	GRCh38/hg38 7q35(chr7:143735880-144409525)x3	ARHGEF35, ARHGEF35-AS1 +27 more	Copy number gain	See cases	GLikely benign
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 2553154	NM_001005480.2(OR2A2):c.68C>A (p.Ala23Glu)	OR2A2 (A23E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2276267	NM_001005480.2(OR2A2):c.79T>C (p.Cys27Arg)	OR2A2 (C27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476202	NM_001005480.2(OR2A2):c.91T>G (p.Ser31Ala)	OR2A2 (S31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398359	NM_001005480.2(OR2A2):c.125G>A (p.Gly42Glu)	OR2A2 (G42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229040	NM_001005480.2(OR2A2):c.169C>G (p.Pro57Ala)	OR2A2 (P57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302627	NM_001005480.2(OR2A2):c.173T>C (p.Met58Thr)	OR2A2 (M58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568986	NM_001005480.2(OR2A2):c.175T>C (p.Tyr59His)	OR2A2 (Y59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302632	NM_001005480.2(OR2A2):c.203T>C (p.Ile68Thr)	OR2A2 (I68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204995	NM_001005480.2(OR2A2):c.215A>G (p.Tyr72Cys)	OR2A2 (Y72C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204996	NM_001005480.2(OR2A2):c.240G>A (p.Met80Ile)	OR2A2 (M80I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302629	NM_001005480.2(OR2A2):c.272T>C (p.Ile91Thr)	OR2A2 (I91T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204997	NM_001005480.2(OR2A2):c.316T>G (p.Phe106Val)	OR2A2 (F106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224547	NM_001005480.2(OR2A2):c.320C>T (p.Ala107Val)	OR2A2 (A107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658121	NM_001005480.2(OR2A2):c.333C>T (p.Cys111=)	OR2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3204998	NM_001005480.2(OR2A2):c.405G>A (p.Met135Ile)	OR2A2 (M135I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308457	NM_001005480.2(OR2A2):c.413G>C (p.Arg138Thr)	OR2A2 (R138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358029	NM_001005480.2(OR2A2):c.425T>A (p.Ile142Asn)	OR2A2 (I142N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302628	NM_001005480.2(OR2A2):c.437C>T (p.Thr146Met)	OR2A2 (T146M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3302630	NM_001005480.2(OR2A2):c.445T>C (p.Ser149Pro)	OR2A2 (S149P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474048	NM_001005480.2(OR2A2):c.450T>G (p.Cys150Trp)	OR2A2 (C150W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204999	NM_001005480.2(OR2A2):c.512G>A (p.Arg171Gln)	OR2A2 (R171Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302631	NM_001005480.2(OR2A2):c.523C>T (p.His175Tyr)	OR2A2 (H175Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402696	NM_001005480.2(OR2A2):c.698G>A (p.Arg233His)	OR2A2 (R233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316099	NM_001005480.2(OR2A2):c.706G>T (p.Ala236Ser)	OR2A2 (A236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345216	NM_001005480.2(OR2A2):c.752T>A (p.Phe251Tyr)	OR2A2 (F251Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540593	NM_001005480.2(OR2A2):c.763A>T (p.Met255Leu)	OR2A2 (M255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547610	NM_001005480.2(OR2A2):c.808G>A (p.Glu270Lys)	OR2A2 (E270K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473895	NM_001005480.2(OR2A2):c.951C>G (p.Cys317Trp)	OR2A2 (C317W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1707419	GRCh37/hg19 7q35(chr7:143425718-144075390)x1	ARHGEF35, ARHGEF5 +16 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687979	GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3	ARHGEF35, ARHGEF5 +44 more	Copy number gain	not provided	GUncertain significance
Select item 687739	GRCh37/hg19 7q35(chr7:143572320-144474990)x3	ARHGEF35, ARHGEF5 +16 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 226182	GRCh37/hg19 7q35(chr7:143342375-143913713)	ARHGEF35, CTAGE4 +11 more	Copy number gain	Abnormal esophagus morphology	GBenign

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Items: 88