OR8K5[gene] - ClinVar

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Items: 30

	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 145380	GRCh38/hg38 11q12.1(chr11:56149822-56770518)x3	LOC126861207, MIR6128 +23 more	Copy number gain	See cases	GBenign
Select item 2556093	NM_001004058.2(OR8K5):c.773T>G (p.Met258Arg)	OR8K5 (M258R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402180	NM_001004058.2(OR8K5):c.773T>C (p.Met258Thr)	OR8K5 (M258T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385489	NM_001004058.2(OR8K5):c.652T>G (p.Tyr218Asp)	OR8K5 (Y218D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590255	NM_001004058.2(OR8K5):c.531T>G (p.Phe177Leu)	OR8K5 (F177L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495858	NM_001004058.2(OR8K5):c.502T>C (p.Phe168Leu)	OR8K5 (F168L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558895	NM_001004058.2(OR8K5):c.416G>A (p.Arg139Gln)	OR8K5 (R139Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408046	NM_001004058.2(OR8K5):c.395A>G (p.Tyr132Cys)	OR8K5 (Y132C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606957	NM_001004058.2(OR8K5):c.326T>C (p.Ile109Thr)	OR8K5 (I109T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264681	NM_001004058.2(OR8K5):c.226G>A (p.Val76Ile)	OR8K5 (V76I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472372	NM_001004058.2(OR8K5):c.131C>T (p.Thr44Ile)	OR8K5 (T44I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559821	NM_001004058.2(OR8K5):c.98T>A (p.Val33Asp)	OR8K5 (V33D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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	APOA1, APOA4 +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)	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
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: 30