OR5K2[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 3206278	NM_001004737.1(OR5K2):c.16C>T (p.His6Tyr)	OR5K2 (H6Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206282	NM_001004737.1(OR5K2):c.40C>A (p.Leu14Ile)	OR5K2 (L14I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353323	NM_001004737.1(OR5K2):c.53C>T (p.Thr18Ile)	OR5K2 (T18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363076	NM_001004737.1(OR5K2):c.80T>C (p.Leu27Pro)	OR5K2 (L27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206277	NM_001004737.1(OR5K2):c.118G>A (p.Val40Met)	OR5K2 (V40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251735	NM_001004737.1(OR5K2):c.119T>C (p.Val40Ala)	OR5K2 (V40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303214	NM_001004737.1(OR5K2):c.122G>A (p.Gly41Glu)	OR5K2 (G41E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406360	NM_001004737.1(OR5K2):c.161G>A (p.Arg54Gln)	OR5K2 (R54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206279	NM_001004737.1(OR5K2):c.218G>C (p.Cys73Ser)	OR5K2 (C73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323753	NM_001004737.1(OR5K2):c.241A>T (p.Met81Leu)	OR5K2 (M81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204469	NM_001004737.1(OR5K2):c.347C>T (p.Ala116Val)	OR5K2 (A116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206281	NM_001004737.1(OR5K2):c.395A>G (p.Tyr132Cys)	OR5K2 (Y132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206283	NM_001004737.1(OR5K2):c.476A>G (p.His159Arg)	OR5K2 (H159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206284	NM_001004737.1(OR5K2):c.512T>C (p.Leu171Ser)	OR5K2 (L171S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303215	NM_001004737.1(OR5K2):c.535T>C (p.Cys179Arg)	OR5K2 (C179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303213	NM_001004737.1(OR5K2):c.554A>G (p.Tyr185Cys)	OR5K2 (Y185C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529566	NM_001004737.1(OR5K2):c.574C>T (p.Pro192Ser)	OR5K2 (P192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206285	NM_001004737.1(OR5K2):c.590T>C (p.Leu197Pro)	OR5K2 (L197P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206286	NM_001004737.1(OR5K2):c.649T>A (p.Ser217Thr)	OR5K2 (S217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539123	NM_001004737.1(OR5K2):c.703G>A (p.Ala235Thr)	OR5K2 (A235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303216	NM_001004737.1(OR5K2):c.727T>A (p.Ser243Thr)	OR5K2 (S243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206288	NM_001004737.1(OR5K2):c.773T>A (p.Leu258Gln)	OR5K2 (L258Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206289	NM_001004737.1(OR5K2):c.775T>C (p.Tyr259His)	OR5K2 (Y259H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241643	NM_001004737.1(OR5K2):c.805G>T (p.Gly269Cys)	OR5K2 (G269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491963	NM_001004737.1(OR5K2):c.817C>T (p.Pro273Ser)	OR5K2 (P273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206290	NM_001004737.1(OR5K2):c.892A>G (p.Ile298Val)	OR5K2 (I298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 1809463	GRCh37/hg19 3q11.2(chr3:97283117-98218677)x3	ARL6, CRYBG3 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 814467	GRCh37/hg19 3q11.2(chr3:97994048-98260542)x3	OR5K4, CLDND1 +5 more	Copy number gain	not provided	GLikely benign
Select item 814466	GRCh37/hg19 3q11.2-12.1(chr3:97606054-98499715)x3	OR5H2, OR5H6 +15 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 40