OR2F1[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	LOC129999666, LOC129999667 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	TMEM140, TMEM176A +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC129999503, LOC129999504 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LINC00996, LINC01003 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	WDR86, WDR86-AS1 +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	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +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	DYNC2I1, EN2 +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	LOC129999649, LOC129999650 +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	ABCB8, ABCF2 +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	LOC129999755, LOC129999756 +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 2204239	NM_012369.3(OR2F1):c.104A>G (p.Tyr35Cys)	OR2F1 (Y35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489226	NM_012369.3(OR2F1):c.160C>G (p.Arg54Gly)	OR2F1 (R54G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312438	NM_012369.3(OR2F1):c.163C>T (p.Leu55Phe)	OR2F1 (L55F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205111	NM_012369.3(OR2F1):c.208G>T (p.Asp70Tyr)	OR2F1 (D70Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315123	NM_012369.3(OR2F1):c.218A>G (p.Tyr73Cys)	OR2F1 (Y73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280076	NM_012369.3(OR2F1):c.320T>G (p.Leu107Trp)	OR2F1 (L107W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205112	NM_012369.3(OR2F1):c.337G>T (p.Val113Phe)	OR2F1 (V113F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235421	NM_012369.3(OR2F1):c.365G>A (p.Arg122His)	OR2F1 (R122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387513	NM_012369.3(OR2F1):c.405C>G (p.Ile135Met)	OR2F1 (I135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252584	NM_012369.3(OR2F1):c.508A>G (p.Arg170Gly)	OR2F1 (R170G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324995	NM_012369.3(OR2F1):c.529A>G (p.Ile177Val)	OR2F1 (I177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216859	NM_012369.3(OR2F1):c.584A>G (p.Asn195Ser)	OR2F1 (N195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412413	NM_012369.3(OR2F1):c.586G>A (p.Glu196Lys)	OR2F1 (E196K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551431	NM_012369.3(OR2F1):c.595A>G (p.Ile199Val)	OR2F1 (I199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214742	NM_012369.3(OR2F1):c.616C>A (p.Leu206Ile)	OR2F1 (L206I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407998	NM_012369.3(OR2F1):c.629C>A (p.Pro210His)	OR2F1 (P210H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205114	NM_012369.3(OR2F1):c.719C>T (p.Thr240Met)	OR2F1 (T240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277171	NM_012369.3(OR2F1):c.737C>T (p.Thr246Ile)	OR2F1 (T246I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548044	NM_012369.3(OR2F1):c.816G>T (p.Lys272Asn)	OR2F1 (K272N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526662	NM_012369.3(OR2F1):c.899C>A (p.Ala300Asp)	OR2F1 (A300D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206150	NM_012369.3(OR2F1):c.924C>A (p.Phe308Leu)	OR2F1 (F308L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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	C7orf33, CASP2 +125 more	Copy number loss	not provided	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	ACTR3C, ADCK2 +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	ADCK2, AGBL3 +105 more	Copy number loss	Small face +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: 81