OR5K4[gene] and "single gene"[properties] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303225	NM_001005517.1(OR5K4):c.7A>G (p.Arg3Gly)	OR5K4 (R3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206300	NM_001005517.1(OR5K4):c.13A>T (p.Asn5Tyr)	OR5K4 (N5Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303224	NM_001005517.1(OR5K4):c.50T>G (p.Phe17Cys)	OR5K4 (F17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367977	NM_001005517.1(OR5K4):c.52A>G (p.Thr18Ala)	OR5K4 (T18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206306	NM_001005517.1(OR5K4):c.53C>T (p.Thr18Ile)	OR5K4 (T18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206308	NM_001005517.1(OR5K4):c.86T>C (p.Val29Ala)	OR5K4 (V29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472184	NM_001005517.1(OR5K4):c.89T>A (p.Val30Glu)	OR5K4 (V30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589380	NM_001005517.1(OR5K4):c.104A>G (p.Tyr35Cys)	OR5K4 (Y35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246989	NM_001005517.1(OR5K4):c.139G>A (p.Ala47Thr)	OR5K4 (A47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394448	NM_001005517.1(OR5K4):c.154G>A (p.Glu52Lys)	OR5K4 (E52K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206302	NM_001005517.1(OR5K4):c.161G>A (p.Arg54His)	OR5K4 (R54H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476026	NM_001005517.1(OR5K4):c.245T>C (p.Leu82Ser)	OR5K4 (L82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288327	NM_001005517.1(OR5K4):c.273T>G (p.Ile91Met)	OR5K4 (I91M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206303	NM_001005517.1(OR5K4):c.298C>A (p.Gln100Lys)	OR5K4 (Q100K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206304	NM_001005517.1(OR5K4):c.299A>C (p.Gln100Pro)	OR5K4 (Q100P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236601	NM_001005517.1(OR5K4):c.365G>A (p.Arg122His)	OR5K4 (R122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206305	NM_001005517.1(OR5K4):c.418C>T (p.Leu140Phe)	OR5K4 (L140F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623399	NM_001005517.1(OR5K4):c.419T>C (p.Leu140Pro)	OR5K4 (L140P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293329	NM_001005517.1(OR5K4):c.431T>C (p.Met144Thr)	OR5K4 (M144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303221	NM_001005517.1(OR5K4):c.439G>A (p.Gly147Arg)	OR5K4 (G147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280438	NM_001005517.1(OR5K4):c.471G>C (p.Met157Ile)	OR5K4 (M157I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338790	NM_001005517.1(OR5K4):c.497T>C (p.Leu166Ser)	OR5K4 (L166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294251	NM_001005517.1(OR5K4):c.512C>A (p.Ser171Tyr)	OR5K4 (S171Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206307	NM_001005517.1(OR5K4):c.544C>G (p.Leu182Val)	OR5K4 (L182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388624	NM_001005517.1(OR5K4):c.685A>G (p.Lys229Glu)	OR5K4 (K229E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303223	NM_001005517.1(OR5K4):c.716C>T (p.Ser239Phe)	OR5K4 (S239F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380438	NM_001005517.1(OR5K4):c.761G>T (p.Cys254Phe)	OR5K4 (C254F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303222	NM_001005517.1(OR5K4):c.769A>G (p.Met257Val)	OR5K4 (M257V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296791	NM_001005517.1(OR5K4):c.808C>G (p.Pro270Ala)	OR5K4 (P270A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347525	NM_001005517.1(OR5K4):c.877G>A (p.Glu293Lys)	OR5K4 (E293K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184859	NM_001005517.1(OR5K4):c.901dup (p.Ile301fs)	OR5K4 (I301fs)	Duplication (frameshift variant)	Essential tremor	GUncertain significance

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Items: 31