OR4K1[gene] - ClinVar

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

Search results

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146963	GRCh38/hg38 14q11.2(chr14:18600315-19967729)x1	LINC01296, LINC01297 +17 more	Copy number loss	See cases	GBenign
Select item 146947	GRCh38/hg38 14q11.2(chr14:18600315-19946044)x3	LINC01296, LINC01297 +17 more	Copy number gain	See cases	GBenign
Select item 146936	GRCh38/hg38 14q11.2(chr14:18658128-19967729)x1	LINC01296, LINC01297 +15 more	Copy number loss	See cases	GBenign
Select item 146998	GRCh38/hg38 14q11.2(chr14:18698325-19967729)x1	LINC01296, LINC01297 +15 more	Copy number loss	See cases	GBenign
Select item 147108	GRCh38/hg38 14q11.2(chr14:19617023-19967729)x1	OR11H2, OR4K1 +6 more	Copy number loss	See cases	GBenign
Select item 147239	GRCh38/hg38 14q11.2(chr14:19730807-19997817)x3	OR4K1, OR4K15 +6 more	Copy number gain	See cases	GBenign
Select item 150731	GRCh38/hg38 14q11.2(chr14:19734017-19938168)x1	OR4K1, OR4K2 +5 more	Copy number loss	See cases	GLikely benign
Select item 147147	GRCh38/hg38 14q11.2(chr14:19735319-19952661)x3	OR4K1, OR4K2 +5 more	Copy number gain	See cases	GBenign
Select item 147097	GRCh38/hg38 14q11.2(chr14:19735319-19941173)x3	OR4K1, OR4K2 +5 more	Copy number gain	See cases	GBenign
Select item 154826	GRCh38/hg38 14q11.2(chr14:19749125-19938168)x1	OR4K1, OR4K2 +5 more	Copy number loss	See cases	GLikely benign
Select item 149787	GRCh38/hg38 14q11.2(chr14:19749125-19938168)x3	OR4K1, OR4K2 +5 more	Copy number gain	See cases	GBenign
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 149453	GRCh38/hg38 14q11.2(chr14:19785749-19938168)x1	OR4K1, OR4K2 +3 more	Copy number loss	See cases	GBenign
Select item 147183	GRCh38/hg38 14q11.2(chr14:19870613-19952661)x1	OR4K1, OR4K2 +1 more	Copy number loss	See cases	GBenign
Select item 147232	GRCh38/hg38 14q11.2(chr14:19882763-19929543)x1	OR4K1, OR4K2 +1 more	Copy number loss	See cases	GBenign
Select item 147081	GRCh38/hg38 14q11.2(chr14:19908079-19929543)x1	OR4K1, OR4K5	Copy number loss	See cases	GBenign
Select item 2597027	NM_001005483.1(OR4K5):c.4G>T (p.Asp2Tyr)	OR4K1, OR4K5 (D2Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302929	NM_001005483.1(OR4K5):c.134T>C (p.Ile45Thr)	OR4K1, OR4K5 (I45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369102	NM_001005483.1(OR4K5):c.166C>T (p.His56Tyr)	OR4K1, OR4K5 (H56Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232959	NM_001005483.1(OR4K5):c.168C>G (p.His56Gln)	OR4K1, OR4K5 (H56Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205630	NM_001005483.1(OR4K5):c.185T>C (p.Leu62Pro)	OR4K1, OR4K5 (L62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481895	NM_001005483.1(OR4K5):c.300A>C (p.Gln100His)	OR4K1, OR4K5 (Q100H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302923	NM_001005483.1(OR4K5):c.361G>A (p.Asp121Asn)	OR4K1, OR4K5 (D121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205631	NM_001005483.1(OR4K5):c.376A>G (p.Ile126Val)	OR4K1, OR4K5 (I126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267233	NM_001005483.1(OR4K5):c.386C>T (p.Pro129Leu)	OR4K1, OR4K5 (P129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302924	NM_001005483.1(OR4K5):c.397G>A (p.Val133Met)	OR4K1, OR4K5 (V133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350083	NM_001005483.1(OR4K5):c.469T>G (p.Leu157Val)	OR4K1, OR4K5 (L157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273460	NM_001005483.1(OR4K5):c.494A>G (p.Asn165Ser)	OR4K1, OR4K5 (N165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302926	NM_001005483.1(OR4K5):c.502T>C (p.Phe168Leu)	OR4K1, OR4K5 (F168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302925	NM_001005483.1(OR4K5):c.544C>T (p.Pro182Ser)	OR4K1, OR4K5 (P182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516732	NM_001005483.1(OR4K5):c.623T>A (p.Leu208Gln)	OR4K1, OR4K5 (L208Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356720	NM_001005483.1(OR4K5):c.637C>T (p.Leu213Phe)	OR4K1, OR4K5 (L213F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521585	NM_001005483.1(OR4K5):c.667G>A (p.Val223Ile)	OR4K1, OR4K5 (V223I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302927	NM_001005483.1(OR4K5):c.697A>T (p.Met233Leu)	OR4K1, OR4K5 (M233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644037	NM_001005483.1(OR4K5):c.735A>T (p.Ala245=)	OR4K1, OR4K5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2398093	NM_001005483.1(OR4K5):c.737T>G (p.Val246Gly)	OR4K1, OR4K5 (V246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205632	NM_001005483.1(OR4K5):c.790A>T (p.Ile264Phe)	OR4K1, OR4K5 (I264F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305346	NM_001005483.1(OR4K5):c.792C>G (p.Ile264Met)	OR4K1, OR4K5 (I264M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381362	NM_001005483.1(OR4K5):c.814G>C (p.Ala272Pro)	OR4K1, OR4K5 (A272P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469655	NM_001005483.1(OR4K5):c.856A>G (p.Ile286Val)	OR4K1, OR4K5 (I286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302922	NM_001005483.1(OR4K5):c.926G>T (p.Arg309Met)	OR4K1, OR4K5 (R309M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319738	NM_001005483.1(OR4K5):c.962C>T (p.Ser321Phe)	OR4K1, OR4K5 (S321F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302928	NM_001005483.1(OR4K5):c.964T>C (p.Phe322Leu)	OR4K1, OR4K5 (F322L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2286073	NM_001004063.3(OR4K1):c.4G>T (p.Ala2Ser)	OR4K1 (A2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302904	NM_001004063.3(OR4K1):c.20C>T (p.Ser7Leu)	OR4K1 (S7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528406	NM_001004063.3(OR4K1):c.28T>A (p.Ser10Thr)	OR4K1 (S10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332949	NM_001004063.3(OR4K1):c.49C>T (p.Leu17Phe)	OR4K1 (L17F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219835	NM_001004063.3(OR4K1):c.140T>C (p.Val47Ala)	OR4K1 (V47A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302905	NM_001004063.3(OR4K1):c.172C>T (p.Pro58Ser)	OR4K1 (P58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205592	NM_001004063.3(OR4K1):c.177G>A (p.Met59Ile)	OR4K1 (M59I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397889	NM_001004063.3(OR4K1):c.203T>G (p.Phe68Cys)	OR4K1 (F68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234605	NM_001004063.3(OR4K1):c.209A>T (p.Asp70Val)	OR4K1 (D70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205593	NM_001004063.3(OR4K1):c.211A>G (p.Ile71Val)	OR4K1 (I71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516817	NM_001004063.3(OR4K1):c.232A>C (p.Thr78Pro)	OR4K1 (T78P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409497	NM_001004063.3(OR4K1):c.313C>T (p.His105Tyr)	OR4K1 (H105Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544216	NM_001004063.3(OR4K1):c.326G>C (p.Gly109Ala)	OR4K1 (G109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302906	NM_001004063.3(OR4K1):c.339G>C (p.Met113Ile)	OR4K1 (M113I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342871	NM_001004063.3(OR4K1):c.341T>C (p.Leu114Ser)	OR4K1 (L114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553155	NM_001004063.3(OR4K1):c.352A>G (p.Met118Val)	OR4K1 (M118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227621	NM_001004063.3(OR4K1):c.355G>A (p.Ala119Thr)	OR4K1 (A119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302907	NM_001004063.3(OR4K1):c.373G>A (p.Ala125Thr)	OR4K1 (A125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514414	NM_001004063.3(OR4K1):c.415A>G (p.Arg139Gly)	OR4K1 (R139G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473167	NM_001004063.3(OR4K1):c.457G>T (p.Val153Phe)	OR4K1 (V153F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204203	NM_001004063.3(OR4K1):c.457G>A (p.Val153Ile)	OR4K1 (V153I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205596	NM_001004063.3(OR4K1):c.505T>G (p.Cys169Gly)	OR4K1 (C169G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462746	NM_001004063.3(OR4K1):c.565T>C (p.Cys189Arg)	OR4K1 (C189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644038	NM_001004063.3(OR4K1):c.603G>A (p.Thr201=)	OR4K1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2326104	NM_001004063.3(OR4K1):c.604A>C (p.Asn202His)	OR4K1 (N202H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205597	NM_001004063.3(OR4K1):c.610G>A (p.Gly204Ser)	OR4K1 (G204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227013	NM_001004063.3(OR4K1):c.670G>T (p.Gly224Cys)	OR4K1 (G224C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340385	NM_001004063.3(OR4K1):c.877G>A (p.Asp293Asn)	OR4K1 (D293N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490490	NM_001004063.3(OR4K1):c.920A>G (p.Asn307Ser)	OR4K1 (N307S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 221864	GRCh37/hg19 14q11.2(chr14:20213937-20420338)x3	OR4K1, OR4K2 +4 more	Copy number gain	Premature ovarian failure	GBenign
Select item 157299	Single allele	LOC101929572, OR11H12 +15 more	Duplication	Normal pregnancy	Gnot provided
Select item 157298	Single allele	LOC101929572, OR11H12 +9 more	Duplication	Large for gestational age	Gnot provided

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: 79