OR5M11[gene] - ClinVar

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Items: 36

	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 2681456	NM_001005245.1(OR5M11):c.818T>C (p.Ile273Thr)	OR5M11 (I273T)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2222833	NM_001005245.1(OR5M11):c.745C>G (p.Leu249Val)	OR5M11 (L249V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309078	NM_001005245.1(OR5M11):c.722G>A (p.Gly241Asp)	OR5M11 (G241D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539055	NM_001005245.1(OR5M11):c.716C>G (p.Thr239Ser)	OR5M11 (T239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303236	NM_001005245.1(OR5M11):c.707C>T (p.Ala236Val)	OR5M11 (A236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513281	NM_001005245.1(OR5M11):c.705G>T (p.Lys235Asn)	OR5M11 (K235N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609677	NM_001005245.1(OR5M11):c.629T>C (p.Leu210Pro)	OR5M11 (L210P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272825	NM_001005245.1(OR5M11):c.623G>A (p.Ser208Asn)	OR5M11 (S208N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389718	NM_001005245.1(OR5M11):c.545C>T (p.Pro182Leu)	OR5M11 (P182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482114	NM_001005245.1(OR5M11):c.472C>A (p.Gln158Lys)	OR5M11 (Q158K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566872	NM_001005245.1(OR5M11):c.461A>G (p.Asp154Gly)	OR5M11 (D154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206347	NM_001005245.1(OR5M11):c.460G>C (p.Asp154His)	OR5M11 (D154H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496041	NM_001005245.1(OR5M11):c.423C>G (p.Ile141Met)	OR5M11 (I141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206345	NM_001005245.1(OR5M11):c.421A>G (p.Ile141Val)	OR5M11 (I141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206344	NM_001005245.1(OR5M11):c.406T>C (p.Ser136Pro)	OR5M11 (S136P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206343	NM_001005245.1(OR5M11):c.350T>C (p.Met117Thr)	OR5M11 (M117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206342	NM_001005245.1(OR5M11):c.328G>C (p.Glu110Gln)	OR5M11 (E110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206341	NM_001005245.1(OR5M11):c.254T>C (p.Ile85Thr)	OR5M11 (I85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568972	NM_001005245.1(OR5M11):c.161G>A (p.Arg54His)	OR5M11 (R54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346011	NM_001005245.1(OR5M11):c.133A>G (p.Met45Val)	OR5M11 (M45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479829	NM_001005245.1(OR5M11):c.109G>A (p.Val37Ile)	OR5M11 (V37I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316759	NM_001005245.1(OR5M11):c.62C>T (p.Pro21Leu)	OR5M11 (P21L)	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: 36