OR5K3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 51

	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 3206295	NM_001005516.1(OR5K3):c.67C>A (p.Leu23Met)	OR5K3 (L23M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566608	NM_001005516.1(OR5K3):c.160C>A (p.Arg54Ser)	OR5K3 (R54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266467	NM_001005516.1(OR5K3):c.170C>T (p.Thr57Ile)	OR5K3 (T57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379387	NM_001005516.1(OR5K3):c.181A>T (p.Ile61Leu)	OR5K3 (I61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592170	NM_001005516.1(OR5K3):c.236C>T (p.Pro79Leu)	OR5K3 (P79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303218	NM_001005516.1(OR5K3):c.257T>C (p.Phe86Ser)	OR5K3 (F86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206291	NM_001005516.1(OR5K3):c.262G>A (p.Glu88Lys)	OR5K3 (E88K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303220	NM_001005516.1(OR5K3):c.272G>A (p.Arg91Lys)	OR5K3 (R91K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303217	NM_001005516.1(OR5K3):c.284A>G (p.Tyr95Cys)	OR5K3 (Y95C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233868	NM_001005516.1(OR5K3):c.333C>G (p.Asp111Glu)	OR5K3 (D111E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324118	NM_001005516.1(OR5K3):c.340C>A (p.Leu114Ile)	OR5K3 (L114I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258704	NM_001005516.1(OR5K3):c.370G>A (p.Val124Met)	OR5K3 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206292	NM_001005516.1(OR5K3):c.413A>C (p.Lys138Thr)	OR5K3 (K138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598665	NM_001005516.1(OR5K3):c.432G>T (p.Met144Ile)	OR5K3 (M144I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340147	NM_001005516.1(OR5K3):c.476A>T (p.Glu159Val)	OR5K3 (E159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215651	NM_001005516.1(OR5K3):c.481G>C (p.Glu161Gln)	OR5K3 (E161Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206293	NM_001005516.1(OR5K3):c.483G>C (p.Glu161Asp)	OR5K3 (E161D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328302	NM_001005516.1(OR5K3):c.514C>T (p.His172Tyr)	OR5K3 (H172Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313500	NM_001005516.1(OR5K3):c.541G>A (p.Val181Ile)	OR5K3 (V181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206294	NM_001005516.1(OR5K3):c.550T>G (p.Leu184Val)	OR5K3 (L184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531910	NM_001005516.1(OR5K3):c.602T>A (p.Ile201Asn)	OR5K3 (I201N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495024	NM_001005516.1(OR5K3):c.605T>G (p.Leu202Trp)	OR5K3 (L202W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596425	NM_001005516.1(OR5K3):c.673A>G (p.Thr225Ala)	OR5K3 (T225A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206296	NM_001005516.1(OR5K3):c.746T>C (p.Phe249Ser)	OR5K3 (F249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410723	NM_001005516.1(OR5K3):c.787G>T (p.Val263Phe)	OR5K3 (V263F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460993	NM_001005516.1(OR5K3):c.796G>C (p.Gly266Arg)	OR5K3 (G266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347772	NM_001005516.1(OR5K3):c.797G>A (p.Gly266Glu)	OR5K3 (G266E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303219	NM_001005516.1(OR5K3):c.826T>C (p.Tyr276His)	OR5K3 (Y276H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206298	NM_001005516.1(OR5K3):c.841C>T (p.Pro281Ser)	OR5K3 (P281S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456825	NM_001005516.1(OR5K3):c.854C>A (p.Pro285His)	OR5K3 (P285H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206299	NM_001005516.1(OR5K3):c.878A>G (p.Lys293Arg)	OR5K3 (K293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207355	NM_001005516.1(OR5K3):c.891T>A (p.Asn297Lys)	OR5K3 (N297K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184860	NM_001005516.1(OR5K3):c.904del (p.Ile302fs)	OR5K3 (I302fs)	Deletion (frameshift variant)	Essential tremor	GUncertain significance
Select item 2280847	NM_001005516.1(OR5K3):c.914A>C (p.Lys305Thr)	OR5K3 (K305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614363	NM_001005516.1(OR5K3):c.932T>A (p.Ile311Asn)	OR5K3 (I311N)	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 443897	GRCh37/hg19 3q11.2(chr3:97650137-98174233)x3	CRYBG3, GABRR3 +9 more	Copy number gain	See cases	GUncertain significance
Select item 442412	GRCh37/hg19 3q11.2(chr3:96579273-98216225)x3	ARL6, CRYBG3 +12 more	Copy number gain	See cases	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 51