ClinVar for Gene (Select 101928492) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2658125	NM_001005287.2(OR2A1):c.40C>T (p.Leu14=)	OR2A1, OR2A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616128	NM_001005328.2(OR2A7):c.806A>G (p.Gln269Arg)	ARHGEF35-AS1, OR2A1-AS1 +1 more (Q269R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616127	NM_001005328.2(OR2A7):c.805C>A (p.Gln269Lys)	OR2A1-AS1, OR2A7 +1 more (Q269K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597612	NM_001005328.2(OR2A7):c.236G>A (p.Arg79Gln)	ARHGEF35-AS1, OR2A1-AS1 +1 more (R79Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2560661	NM_001005287.2(OR2A1):c.257A>T (p.His86Leu)	OR2A1, OR2A1-AS1 (H86L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540681	NM_001005328.2(OR2A7):c.454G>A (p.Val152Ile)	ARHGEF35-AS1, OR2A1-AS1 +1 more (V152I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524355	NM_001005328.2(OR2A7):c.809A>G (p.Lys270Arg)	ARHGEF35-AS1, OR2A1-AS1 +1 more (K270R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485702	NM_001005328.2(OR2A7):c.743G>T (p.Gly248Val)	ARHGEF35-AS1, OR2A1-AS1 +1 more (G248V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468588	NM_001005328.2(OR2A7):c.257A>T (p.His86Leu)	ARHGEF35-AS1, OR2A1-AS1 +1 more (H86L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412511	NM_001005328.2(OR2A7):c.664T>A (p.Cys222Ser)	ARHGEF35-AS1, OR2A1-AS1 +1 more (C222S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412325	NM_001005287.2(OR2A1):c.164A>C (p.His55Pro)	OR2A1, OR2A1-AS1 (H55P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389525	NM_001005328.2(OR2A7):c.383C>A (p.Pro128His)	OR2A7, OR2A1-AS1 +1 more (P128H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381361	NM_001005287.2(OR2A1):c.305T>C (p.Leu102Pro)	OR2A1, OR2A1-AS1 (L102P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365770	NM_001005287.2(OR2A1):c.139C>G (p.Leu47Val)	OR2A1, OR2A1-AS1 (L47V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337208	NM_001005328.2(OR2A7):c.14T>C (p.Ile5Thr)	OR2A7, OR2A1-AS1 +1 more (I5T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324607	NM_001005287.2(OR2A1):c.110C>A (p.Thr37Asn)	OR2A1, OR2A1-AS1 (T37N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296106	NM_001005287.2(OR2A1):c.166A>C (p.Thr56Pro)	OR2A1, OR2A1-AS1 (T56P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289300	NM_001005287.2(OR2A1):c.17C>G (p.Thr6Arg)	OR2A1, OR2A1-AS1 (T6R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261855	NM_001005287.2(OR2A1):c.55G>A (p.Gly19Ser)	OR2A1, OR2A1-AS1 (G19S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212626	NM_001005287.2(OR2A1):c.397G>A (p.Val133Ile)	OR2A1, OR2A1-AS1 (V133I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	ADCK2, AGK +230 more	Copy number gain	See cases	GUncertain significance
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 155173	GRCh38/hg38 7q35(chr7:143733925-144255312)x3	ARHGEF35, ARHGEF35-AS1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 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 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	LOC123956263, LOC126860190 +455 more	Copy number loss	See cases	GPathogenic
Select item 149928	GRCh38/hg38 7q35(chr7:144186919-144354186)x1	ARHGEF35, ARHGEF35-AS1 +5 more	Copy number loss	See cases	GLikely benign
Select item 149927	GRCh38/hg38 7q35(chr7:144186919-144354186)x3	ARHGEF35, ARHGEF35-AS1 +5 more	Copy number gain	See cases	GLikely benign
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
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 149445	GRCh38/hg38 7q35(chr7:144227698-144354186)x3	ARHGEF35-AS1, CTAGE8 +4 more	Copy number gain	See cases	GLikely benign
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999467, LOC129999468 +944 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129389950, LOC129999513 +707 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	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 146973	GRCh38/hg38 7q35(chr7:144254868-144354157)x1	ARHGEF35-AS1, CTAGE8 +3 more	Copy number loss	See cases	GBenign
Select item 146871	GRCh38/hg38 7q35(chr7:143735880-144409525)x3	ARHGEF35, ARHGEF35-AS1 +27 more	Copy number gain	See cases	GLikely benign
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 144390	GRCh38/hg38 7q35(chr7:143735739-144254897)x3	ARHGEF35, ARHGEF35-AS1 +20 more	Copy number gain	See cases	GBenign
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129389931, LOC129389932 +573 more	Copy number loss	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 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 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 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 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 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

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Links from Gene

Items: 51