OR5AP2[gene] - ClinVar

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Items: 35

	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 2390122	NM_001002925.1(OR5AP2):c.941A>G (p.His314Arg)	OR5AP2 (H314R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472691	NM_001002925.1(OR5AP2):c.940C>T (p.His314Tyr)	OR5AP2 (H314Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270275	NM_001002925.1(OR5AP2):c.895A>C (p.Lys299Gln)	OR5AP2 (K299Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343306	NM_001002925.1(OR5AP2):c.800G>A (p.Arg267His)	OR5AP2 (R267H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206112	NM_001002925.1(OR5AP2):c.789C>A (p.Phe263Leu)	OR5AP2 (F263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217272	NM_001002925.1(OR5AP2):c.748T>G (p.Tyr250Asp)	OR5AP2 (Y250D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308090	NM_001002925.1(OR5AP2):c.742G>A (p.Ala248Thr)	OR5AP2 (A248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206111	NM_001002925.1(OR5AP2):c.734C>G (p.Ser245Cys)	OR5AP2 (S245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641789	NM_001002925.1(OR5AP2):c.707C>T (p.Ser236Leu)	OR5AP2 (S236L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2623724	NM_001002925.1(OR5AP2):c.616A>C (p.Met206Leu)	OR5AP2 (M206L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292610	NM_001002925.1(OR5AP2):c.538A>T (p.Ile180Phe)	OR5AP2 (I180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403453	NM_001002925.1(OR5AP2):c.484G>A (p.Ala162Thr)	OR5AP2 (A162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307680	NM_001002925.1(OR5AP2):c.472G>A (p.Gly158Ser)	OR5AP2 (G158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206109	NM_001002925.1(OR5AP2):c.453A>G (p.Ile151Met)	OR5AP2 (I151M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522612	NM_001002925.1(OR5AP2):c.451A>G (p.Ile151Val)	OR5AP2 (I151V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361846	NM_001002925.1(OR5AP2):c.374C>T (p.Ala125Val)	OR5AP2 (A125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264083	NM_001002925.1(OR5AP2):c.338T>G (p.Phe113Cys)	OR5AP2 (F113C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206108	NM_001002925.1(OR5AP2):c.247G>A (p.Val83Ile)	OR5AP2 (V83I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206107	NM_001002925.1(OR5AP2):c.175C>A (p.Leu59Ile)	OR5AP2 (L59I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247626	NM_001002925.1(OR5AP2):c.133A>C (p.Met45Leu)	OR5AP2 (M45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254642	NM_001002925.1(OR5AP2):c.97C>T (p.Leu33Phe)	OR5AP2 (L33F)	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: 35