OR5B17[gene] - ClinVar

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Items: 38

	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 3303158	NM_001005489.2(OR5B17):c.910G>A (p.Glu304Lys)	OR5B17 (E304K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206147	NM_001005489.2(OR5B17):c.891T>G (p.Asn297Lys)	OR5B17 (N297K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390521	NM_001005489.2(OR5B17):c.770A>G (p.Tyr257Cys)	OR5B17 (Y257C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603716	NM_001005489.2(OR5B17):c.751A>G (p.Ile251Val)	OR5B17 (I251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368817	NM_001005489.2(OR5B17):c.734C>T (p.Ala245Val)	OR5B17 (A245V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303156	NM_001005489.2(OR5B17):c.703C>A (p.Pro235Thr)	OR5B17 (P235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206146	NM_001005489.2(OR5B17):c.670C>T (p.Leu224Phe)	OR5B17 (L224F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357636	NM_001005489.2(OR5B17):c.643T>C (p.Ser215Pro)	OR5B17 (S215P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463878	NM_001005489.2(OR5B17):c.592G>T (p.Val198Phe)	OR5B17 (V198F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246142	NM_001005489.2(OR5B17):c.554T>G (p.Leu185Arg)	OR5B17 (L185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392614	NM_001005489.2(OR5B17):c.509A>G (p.Asn170Ser)	OR5B17 (N170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341210	NM_001005489.2(OR5B17):c.487C>A (p.Arg163Ser)	OR5B17 (R163S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206144	NM_001005489.2(OR5B17):c.461C>A (p.Ala154Asp)	OR5B17 (A154D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597374	NM_001005489.2(OR5B17):c.455T>G (p.Leu152Arg)	OR5B17 (L152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206143	NM_001005489.2(OR5B17):c.434G>T (p.Gly145Val)	OR5B17 (G145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206142	NM_001005489.2(OR5B17):c.422G>C (p.Cys141Ser)	OR5B17 (C141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206141	NM_001005489.2(OR5B17):c.410G>A (p.Arg137His)	OR5B17 (R137H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603814	NM_001005489.2(OR5B17):c.409C>T (p.Arg137Cys)	OR5B17 (R137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206140	NM_001005489.2(OR5B17):c.364G>A (p.Ala122Thr)	OR5B17 (A122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272681	NM_001005489.2(OR5B17):c.334C>G (p.Leu112Val)	OR5B17 (L112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456055	NM_001005489.2(OR5B17):c.287C>G (p.Ala96Gly)	OR5B17 (A96G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206139	NM_001005489.2(OR5B17):c.254T>C (p.Ile85Thr)	OR5B17 (I85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206138	NM_001005489.2(OR5B17):c.235G>C (p.Val79Leu)	OR5B17 (V79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303159	NM_001005489.2(OR5B17):c.230C>T (p.Pro77Leu)	OR5B17 (P77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303157	NM_001005489.2(OR5B17):c.178T>C (p.Phe60Leu)	OR5B17 (F60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354294	NM_001005489.2(OR5B17):c.164C>T (p.Thr55Ile)	OR5B17 (T55I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337092	NM_001005489.2(OR5B17):c.134T>C (p.Ile45Thr)	OR5B17 (I45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618476	NM_001005489.2(OR5B17):c.124G>A (p.Gly42Arg)	OR5B17 (G42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360900	NM_001005489.2(OR5B17):c.84G>A (p.Met28Ile)	OR5B17 (M28I)	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	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 997825	Single allele	MMP13, MMP20 +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)	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

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Items: 38