OR9Q1[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 2317500	NM_001005186.2(OR6Q1):c.49A>T (p.Met17Leu)	OR6Q1, OR9Q1 (M17L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305813	NM_001005186.2(OR6Q1):c.106A>G (p.Met36Val)	OR9Q1, OR6Q1 (M36V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239903	NM_001005186.2(OR6Q1):c.117C>A (p.Phe39Leu)	OR9Q1, OR6Q1 (F39L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380138	NM_001005186.2(OR6Q1):c.172C>T (p.Arg58Trp)	OR9Q1, OR6Q1 (R58W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2344001	NM_001005186.2(OR6Q1):c.173G>A (p.Arg58Gln)	OR9Q1, OR6Q1 (R58Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217356	NM_001005186.2(OR6Q1):c.217A>G (p.Ile73Val)	OR9Q1, OR6Q1 (I73V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251026	NM_001005186.2(OR6Q1):c.257G>T (p.Gly86Val)	OR6Q1, OR9Q1 (G86V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374888	NM_001005186.2(OR6Q1):c.364A>G (p.Met122Val)	OR6Q1, OR9Q1 (M122V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403959	NM_001005186.2(OR6Q1):c.676G>A (p.Val226Ile)	OR9Q1, OR6Q1 (V226I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591417	NM_001005186.2(OR6Q1):c.770G>T (p.Gly257Val)	OR6Q1, OR9Q1 (G257V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384341	NM_001005186.2(OR6Q1):c.829G>A (p.Val277Met)	OR9Q1, OR6Q1 (V277M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332355	NM_001005186.2(OR6Q1):c.853G>A (p.Val285Ile)	OR6Q1, OR9Q1 (V285I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2641801	NM_001005186.2(OR6Q1):c.915G>T (p.Leu305=)	OR6Q1, OR9Q1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2309559	NM_001005186.2(OR6Q1):c.946G>C (p.Gly316Arg)	OR9Q1, OR6Q1 (G316R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468909	NM_001005211.2(OR9I1):c.889G>A (p.Val297Ile)	OR9I1, OR9Q1 (V297I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539057	NM_001005211.2(OR9I1):c.884A>G (p.Lys295Arg)	OR9I1, OR9Q1 (K295R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222319	NM_001005211.2(OR9I1):c.811G>A (p.Asp271Asn)	OR9I1, OR9Q1 (D271N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321192	NM_001005211.2(OR9I1):c.748C>A (p.Leu250Ile)	OR9I1, OR9Q1 (L250I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227837	NM_001005211.2(OR9I1):c.704C>A (p.Ala235Asp)	OR9Q1, OR9I1 (A235D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603378	NM_001005211.2(OR9I1):c.604T>C (p.Phe202Leu)	OR9I1, OR9Q1 (F202L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376211	NM_001005211.2(OR9I1):c.519A>C (p.Gln173His)	OR9Q1, OR9I1 (Q173H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347374	NM_001005211.2(OR9I1):c.476G>A (p.Arg159His)	OR9I1, OR9Q1 (R159H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286544	NM_001005211.2(OR9I1):c.443C>T (p.Ala148Val)	OR9Q1, OR9I1 (A148V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385260	NM_001005211.2(OR9I1):c.440G>C (p.Gly147Ala)	OR9I1, OR9Q1 (G147A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361030	NM_001005211.2(OR9I1):c.293C>T (p.Ala98Val)	OR9I1, OR9Q1 (A98V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458512	NM_001005211.2(OR9I1):c.226G>A (p.Val76Ile)	OR9I1, OR9Q1 (V76I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 91923	NM_001005211.2(OR9I1):c.218A>G (p.Tyr73Cys)	OR9I1, OR9Q1 (Y73C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2378170	NM_001005211.2(OR9I1):c.79C>T (p.Leu27Phe)	OR9I1, OR9Q1 (L27F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491146	NM_001005212.4(OR9Q1):c.8A>T (p.Glu3Val)	OR9Q1 (E3V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465634	NM_001005212.4(OR9Q1):c.106C>A (p.Leu36Ile)	OR9Q1 (L36I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289402	NM_001005212.4(OR9Q1):c.419C>T (p.Ala140Val)	OR9Q1 (A140V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349891	NM_001005212.4(OR9Q1):c.475C>T (p.Arg159Trp)	OR9Q1 (R159W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223718	NM_001005212.4(OR9Q1):c.481G>A (p.Val161Ile)	OR9Q1 (V161I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588925	NM_001005212.4(OR9Q1):c.508G>A (p.Gly170Arg)	OR9Q1 (G170R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214451	NM_001005212.4(OR9Q1):c.548C>T (p.Pro183Leu)	OR9Q1 (P183L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492170	NM_001005212.4(OR9Q1):c.635T>C (p.Val212Ala)	OR9Q1 (V212A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261187	NM_001005212.4(OR9Q1):c.713C>T (p.Ser238Phe)	OR9Q1 (S238F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398633	NM_001005212.4(OR9Q1):c.730C>G (p.Leu244Val)	OR9Q1 (L244V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300484	NM_001005212.4(OR9Q1):c.746T>A (p.Leu249His)	OR9Q1 (L249H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063212	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1339813	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not provided	Gnot provided
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Items: 50