OR5M1[gene] - ClinVar

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Items: 37

	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 3206335	NM_001004740.2(OR5M1):c.903G>A (p.Met301Ile)	OR5M1 (M301I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206334	NM_001004740.2(OR5M1):c.877C>T (p.Arg293Trp)	OR5M1 (R293W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206333	NM_001004740.2(OR5M1):c.872G>A (p.Ser291Asn)	OR5M1 (S291N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303232	NM_001004740.2(OR5M1):c.859C>A (p.Pro287Thr)	OR5M1 (P287T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206332	NM_001004740.2(OR5M1):c.854T>C (p.Leu285Pro)	OR5M1 (L285P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206331	NM_001004740.2(OR5M1):c.785C>G (p.Pro262Arg)	OR5M1 (P262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534905	NM_001004740.2(OR5M1):c.578G>A (p.Arg193His)	OR5M1 (R193H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539675	NM_001004740.2(OR5M1):c.563C>T (p.Ala188Val)	OR5M1 (A188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327041	NM_001004740.2(OR5M1):c.451T>C (p.Tyr151His)	OR5M1 (Y151H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223890	NM_001004740.2(OR5M1):c.449T>C (p.Met150Thr)	OR5M1 (M150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312306	NM_001004740.2(OR5M1):c.448A>G (p.Met150Val)	OR5M1 (M150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623478	NM_001004740.2(OR5M1):c.422G>A (p.Cys141Tyr)	OR5M1 (C141Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473896	NM_001004740.2(OR5M1):c.353T>A (p.Met118Lys)	OR5M1 (M118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271704	NM_001004740.2(OR5M1):c.349T>C (p.Ser117Pro)	OR5M1 (S117P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206329	NM_001004740.2(OR5M1):c.340A>T (p.Ile114Phe)	OR5M1 (I114F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303231	NM_001004740.2(OR5M1):c.322G>T (p.Val108Leu)	OR5M1 (V108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400440	NM_001004740.2(OR5M1):c.266A>G (p.Gln89Arg)	OR5M1 (Q89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262390	NM_001004740.2(OR5M1):c.250A>G (p.Asn84Asp)	OR5M1 (N84D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395980	NM_001004740.2(OR5M1):c.227A>G (p.Asn76Ser)	OR5M1 (N76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206328	NM_001004740.2(OR5M1):c.205G>A (p.Val69Ile)	OR5M1 (V69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206330	NM_001004740.2(OR5M1):c.72G>C (p.Glu24Asp)	OR5M1 (E24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379034	NM_001004740.2(OR5M1):c.59A>C (p.Asp20Ala)	OR5M1 (D20A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408668	NM_001004740.2(OR5M1):c.6C>G (p.Phe2Leu)	OR5M1 (F2L)	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 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

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Items: 37