OR5B3[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 3206166	NM_001005469.2(OR5B3):c.921A>T (p.Lys307Asn)	OR5B3 (K307N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289774	NM_001005469.2(OR5B3):c.834G>A (p.Met278Ile)	OR5B3 (M278I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358304	NM_001005469.2(OR5B3):c.779C>G (p.Pro260Arg)	OR5B3 (P260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615141	NM_001005469.2(OR5B3):c.758T>C (p.Ile253Thr)	OR5B3 (I253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207985	NM_001005469.2(OR5B3):c.729C>A (p.Phe243Leu)	OR5B3 (F243L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2305271	NM_001005469.2(OR5B3):c.625C>T (p.Leu209Phe)	OR5B3 (L209F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206165	NM_001005469.2(OR5B3):c.584T>C (p.Leu195Pro)	OR5B3 (L195P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206164	NM_001005469.2(OR5B3):c.506C>A (p.Ser169Tyr)	OR5B3 (S169Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203785	NM_001005469.2(OR5B3):c.370G>A (p.Val124Met)	OR5B3 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220018	NM_001005469.2(OR5B3):c.335T>C (p.Leu112Pro)	OR5B3 (L112P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367619	NM_001005469.2(OR5B3):c.268A>G (p.Ile90Val)	OR5B3 (I90V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641803	NM_001005469.2(OR5B3):c.195T>C (p.Ser65=)	OR5B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3206162	NM_001005469.2(OR5B3):c.187A>G (p.Asn63Asp)	OR5B3 (N63D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377961	NM_001005469.2(OR5B3):c.140T>C (p.Ile47Thr)	OR5B3 (I47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285658	NM_001005469.2(OR5B3):c.98A>G (p.Tyr33Cys)	OR5B3 (Y33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594114	NM_001005469.2(OR5B3):c.83C>T (p.Thr28Met)	OR5B3 (T28M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206163	NM_001005469.2(OR5B3):c.20T>C (p.Val7Ala)	OR5B3 (V7A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265927	NM_001005469.2(OR5B3):c.16G>A (p.Glu6Lys)	OR5B3 (E6K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
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 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
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 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 27