ClinVar for Gene (Select 390174) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3206887	NM_001005213.2(OR9G1):c.97G>A (p.Val33Met)	OR9G1 (V33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206886	NM_001005213.2(OR9G1):c.911T>C (p.Leu304Pro)	OR9G1 (L304P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206885	NM_001005213.2(OR9G1):c.847A>G (p.Met283Val)	OR9G1 (M283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206882	NM_001005213.2(OR9G1):c.778C>G (p.Leu260Val)	OR9G1 (L260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206881	NM_001005213.2(OR9G1):c.658A>G (p.Ile220Val)	OR9G1 (I220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206880	NM_001005213.2(OR9G1):c.529T>C (p.Phe177Leu)	OR9G1 (F177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206879	NM_001005213.2(OR9G1):c.496A>G (p.Asn166Asp)	OR9G1 (N166D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206878	NM_001005213.2(OR9G1):c.460A>G (p.Asn154Asp)	OR9G1 (N154D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206877	NM_001005213.2(OR9G1):c.310G>T (p.Ala104Ser)	OR9G1 (A104S)	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 2641790	NM_001005213.2(OR9G1):c.423A>G (p.Ala141=)	OR9G1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2589894	NM_001005213.2(OR9G1):c.771C>G (p.Ile257Met)	OR9G1 (I257M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528179	NM_001005213.2(OR9G1):c.643G>A (p.Ala215Thr)	OR9G1 (A215T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354311	NM_001005213.2(OR9G1):c.506G>A (p.Arg169His)	OR9G1 (R169H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344198	NM_001005213.2(OR9G1):c.628G>A (p.Ala210Thr)	OR9G1 (A210T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2316299	NM_001005213.2(OR9G1):c.287G>T (p.Cys96Phe)	OR9G1 (C96F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307681	NM_001005213.2(OR9G1):c.614A>G (p.Asn205Ser)	OR9G1 (N205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269502	NM_001005213.2(OR9G1):c.535G>C (p.Asp179His)	OR9G1 (D179H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 873252	NC_000011.10:g.56699609T>C	OR9G1	Single nucleotide variant	not specified	GLikely benign
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)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
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 145380	GRCh38/hg38 11q12.1(chr11:56149822-56770518)x3	LOC126861207, MIR6128 +23 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

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Links from Gene

Items: 32