OR5AR1[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
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 2325924	NM_001004730.1(OR5AR1):c.25G>A (p.Val9Met)	OR5AR1 (V9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242532	NM_001004730.1(OR5AR1):c.83T>C (p.Phe28Ser)	OR5AR1 (F28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412415	NM_001004730.1(OR5AR1):c.85G>A (p.Val29Met)	OR5AR1 (V29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555074	NM_001004730.1(OR5AR1):c.172C>G (p.Pro58Ala)	OR5AR1 (P58A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409311	NM_001004730.1(OR5AR1):c.178T>A (p.Tyr60Asn)	OR5AR1 (Y60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204338	NM_001004730.1(OR5AR1):c.232G>T (p.Ala78Ser)	OR5AR1 (A78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618721	NM_001004730.1(OR5AR1):c.337T>C (p.Tyr113His)	OR5AR1 (Y113H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206113	NM_001004730.1(OR5AR1):c.346G>A (p.Ala116Thr)	OR5AR1 (A116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206114	NM_001004730.1(OR5AR1):c.354G>T (p.Met118Ile)	OR5AR1 (M118I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206115	NM_001004730.1(OR5AR1):c.364C>T (p.Arg122Cys)	OR5AR1 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558811	NM_001004730.1(OR5AR1):c.395A>G (p.Tyr132Cys)	OR5AR1 (Y132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511858	NM_001004730.1(OR5AR1):c.430C>T (p.Leu144Phe)	OR5AR1 (L144F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206117	NM_001004730.1(OR5AR1):c.433A>C (p.Met145Leu)	OR5AR1 (M145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206118	NM_001004730.1(OR5AR1):c.460G>A (p.Val154Met)	OR5AR1 (V154M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1291871	NM_001004730.1(OR5AR1):c.506G>A (p.Cys169Tyr)	OR5AR1 (C169Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2288582	NM_001004730.1(OR5AR1):c.515A>G (p.Asn172Ser)	OR5AR1 (N172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342335	NM_001004730.1(OR5AR1):c.530T>A (p.Phe177Tyr)	OR5AR1 (F177Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311991	NM_001004730.1(OR5AR1):c.611G>C (p.Gly204Ala)	OR5AR1 (G204A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519142	NM_001004730.1(OR5AR1):c.631A>G (p.Ile211Val)	OR5AR1 (I211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226545	NM_001004730.1(OR5AR1):c.640A>G (p.Ile214Val)	OR5AR1 (I214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206119	NM_001004730.1(OR5AR1):c.663C>G (p.Ile221Met)	OR5AR1 (I221M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206121	NM_001004730.1(OR5AR1):c.686G>C (p.Arg229Pro)	OR5AR1 (R229P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206120	NM_001004730.1(OR5AR1):c.686G>A (p.Arg229His)	OR5AR1 (R229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479828	NM_001004730.1(OR5AR1):c.701G>A (p.Arg234His)	OR5AR1 (R234H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206123	NM_001004730.1(OR5AR1):c.710C>G (p.Ala237Gly)	OR5AR1 (A237G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268294	NM_001004730.1(OR5AR1):c.806A>G (p.Asp269Gly)	OR5AR1 (D269G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364772	NM_001004730.1(OR5AR1):c.836C>T (p.Thr279Met)	OR5AR1 (T279M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246141	NM_001004730.1(OR5AR1):c.841A>G (p.Ile281Val)	OR5AR1 (I281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346823	NM_001004730.1(OR5AR1):c.871A>T (p.Ser291Cys)	OR5AR1 (S291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394980	NM_001004730.1(OR5AR1):c.878G>A (p.Arg293Gln)	OR5AR1 (R293Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713757	NM_001004730.1(OR5AR1):c.932A>T (p.Ter311Leu)	OR5AR1	Single nucleotide variant (stop lost)	not provided	GBenign
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	ACER3, ACP2 +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)	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

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Items: 45