19607[HGNC] - ClinVar

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Items: 34

	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 146609	GRCh38/hg38 11q12.1(chr11:55936260-56048836)x1	OR10AG1, OR5AS1 +2 more	Copy number loss	See cases	GBenign
Select item 3204483	NM_001005491.2(OR10AG1):c.928G>A (p.Val310Met)	OR10AG1 (V310M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271592	NM_001005491.2(OR10AG1):c.895A>G (p.Ile299Val)	OR10AG1 (I299V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389670	NM_001005491.2(OR10AG1):c.855T>G (p.Ile285Met)	OR10AG1 (I285M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590071	NM_001005491.2(OR10AG1):c.830A>G (p.Gln277Arg)	OR10AG1 (Q277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394166	NM_001005491.2(OR10AG1):c.824C>T (p.Pro275Leu)	OR10AG1 (P275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601777	NM_001005491.2(OR10AG1):c.728G>C (p.Arg243Thr)	OR10AG1 (R243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385507	NM_001005491.2(OR10AG1):c.578C>T (p.Pro193Leu)	OR10AG1 (P193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300519	NM_001005491.2(OR10AG1):c.572A>G (p.Asp191Gly)	OR10AG1 (D191G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302387	NM_001005491.2(OR10AG1):c.524T>G (p.Phe175Cys)	OR10AG1 (F175C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204482	NM_001005491.2(OR10AG1):c.484A>G (p.Ile162Val)	OR10AG1 (I162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601962	NM_001005491.2(OR10AG1):c.448A>G (p.Lys150Glu)	OR10AG1 (K150E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282745	NM_001005491.2(OR10AG1):c.301G>A (p.Gly101Arg)	OR10AG1 (G101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325834	NM_001005491.2(OR10AG1):c.245T>C (p.Ile82Thr)	OR10AG1 (I82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302388	NM_001005491.2(OR10AG1):c.144G>A (p.Met48Ile)	OR10AG1 (M48I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252949	NM_001005491.2(OR10AG1):c.111G>A (p.Met37Ile)	OR10AG1 (M37I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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: 34