OR8J3[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145000	GRCh38/hg38 11q11-12.1(chr11:55265785-56230226)x3	LOC126861207, OR10AG1 +28 more	Copy number gain	See cases	GBenign
Select item 152667	GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3	APLNR, LINC02735 +86 more	Copy number gain	See cases	GUncertain significance
Select item 161063	GRCh38/hg38 11q11-12.1(chr11:55319519-56212930)x3	LOC126861207, OR10AG1 +27 more	Copy number gain	See cases	GBenign
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 32870	GRCh38/hg38 11q11-12.1(chr11:55319519-56212930)x3	LOC126861207, OR10AG1 +27 more	Copy number gain	See cases	GBenign
Select item 57245	GRCh38/hg38 11q11-12.1(chr11:55445689-57114783)x1	LINC02735, LOC126861207 +50 more	Copy number loss	See cases	GBenign
Select item 2374834	NM_001004064.2(OR8J3):c.943A>G (p.Met315Val)	OR8J3 (M315V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241644	NM_001004064.2(OR8J3):c.914T>G (p.Met305Arg)	OR8J3 (M305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206801	NM_001004064.2(OR8J3):c.894T>A (p.Asn298Lys)	OR8J3 (N298K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303443	NM_001004064.2(OR8J3):c.764T>C (p.Met255Thr)	OR8J3 (M255T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303442	NM_001004064.2(OR8J3):c.746C>T (p.Thr249Met)	OR8J3 (T249M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406375	NM_001004064.2(OR8J3):c.733A>G (p.Met245Val)	OR8J3 (M245V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303444	NM_001004064.2(OR8J3):c.661A>G (p.Ile221Val)	OR8J3 (I221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551321	NM_001004064.2(OR8J3):c.470T>C (p.Ile157Thr)	OR8J3 (I157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294462	NM_001004064.2(OR8J3):c.470T>A (p.Ile157Asn)	OR8J3 (I157N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206799	NM_001004064.2(OR8J3):c.413G>A (p.Arg138Gln)	OR8J3 (R138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344419	NM_001004064.2(OR8J3):c.364C>T (p.Arg122Cys)	OR8J3 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206798	NM_001004064.2(OR8J3):c.359A>G (p.Tyr120Cys)	OR8J3 (Y120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617502	NM_001004064.2(OR8J3):c.331G>C (p.Glu111Gln)	OR8J3 (E111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302289	NM_001004064.2(OR8J3):c.209A>G (p.Asn70Ser)	OR8J3 (N70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410816	NM_001004064.2(OR8J3):c.26T>C (p.Val9Ala)	OR8J3 (V9A)	Single nucleotide variant (missense variant)	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	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340449	GRCh37/hg19 11p11.12-q12.1(chr11:51164494-56879839)x3	OR10AG1, OR4A15 +47 more	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
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 442071	GRCh37/hg19 11p11.12-q12.1(chr11:51183548-56977098)x3	LRRC55, OR10AG1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 395409	GRCh37/hg19 11q11-12.1(chr11:55033164-55980347)x3	OR10AG1, OR4A15 +25 more	Copy number gain	See cases	GBenign
Select item 395111	GRCh37/hg19 11q11-12.1(chr11:55029738-55980347)x3	OR10AG1, OR4A15 +25 more	Copy number gain	See cases	GBenign

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Items: 33