ClinVar for Gene (Select 4994) - ClinVar

Links from Gene

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302813	NM_002550.3(OR3A1):c.20C>G (p.Ala7Gly)	OR3A1, OR3A2 (A7G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302812	NM_002550.3(OR3A1):c.695G>A (p.Arg232His)	OR3A1, OR3A2 (R232H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302811	NM_002550.3(OR3A1):c.526G>A (p.Val176Met)	OR3A1, OR3A2 (V176M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302810	NM_002550.3(OR3A1):c.397C>T (p.Leu133Phe)	OR3A1, OR3A2 (L133F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3205362	NM_002550.3(OR3A1):c.776T>C (p.Ile259Thr)	OR3A1, OR3A2 (I259T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205361	NM_002550.3(OR3A1):c.754G>T (p.Ala252Ser)	OR3A1, OR3A2 (A252S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205360	NM_002550.3(OR3A1):c.685C>G (p.Leu229Val)	OR3A1, OR3A2 (L229V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205359	NM_002550.3(OR3A1):c.595G>C (p.Glu199Gln)	OR3A1, OR3A2 (E199Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205358	NM_002550.3(OR3A1):c.578C>G (p.Ser193Cys)	OR3A1, OR3A2 (S193C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205356	NM_002550.3(OR3A1):c.423G>C (p.Gln141His)	OR3A1, OR3A2 (Q141H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205355	NM_002550.3(OR3A1):c.410C>A (p.Thr137Asn)	OR3A1, OR3A2 (T137N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205354	NM_002550.3(OR3A1):c.301C>T (p.Leu101Phe)	OR3A1, OR3A2 (L101F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205352	NM_002550.3(OR3A1):c.278G>A (p.Arg93His)	OR3A1, OR3A2 (R93H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205351	NM_002550.3(OR3A1):c.260G>A (p.Arg87His)	OR3A1, OR3A2 (R87H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205350	NM_002550.3(OR3A1):c.200G>A (p.Gly67Glu)	OR3A1, OR3A2 (G67E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205349	NM_002550.3(OR3A1):c.122C>T (p.Thr41Met)	OR3A1, OR3A2 (T41M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063494	GRCh37/hg19 17p13.3-13.2(chr17:2674657-3484368)x3	ASPA, LOC100288728 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2685594	GRCh37/hg19 17p13.3-13.2(chr17:2433587-3484368)x1	ASPA, CLUH +16 more	Copy number loss	not provided	GPathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2647231	NM_002550.3(OR3A1):c.100T>A (p.Phe34Ile)	OR3A1, OR3A2 (F34I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2647230	NM_002550.3(OR3A1):c.465T>C (p.Ala155=)	OR3A1, OR3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2604684	NM_002550.3(OR3A1):c.356C>T (p.Thr119Ile)	OR3A1, OR3A2 (T119I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2490799	NM_002550.3(OR3A1):c.437T>C (p.Met146Thr)	OR3A1, OR3A2 (M146T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489389	NM_002550.3(OR3A1):c.844A>T (p.Thr282Ser)	OR3A1, OR3A2 (T282S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484125	NM_002550.3(OR3A1):c.829G>T (p.Val277Phe)	OR3A1, OR3A2 (V277F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384165	NM_002550.3(OR3A1):c.802A>G (p.Thr268Ala)	OR3A1, OR3A2 (T268A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2382650	NM_002550.3(OR3A1):c.824A>G (p.Lys275Arg)	OR3A1, OR3A2 (K275R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381887	NM_002550.3(OR3A1):c.825A>C (p.Lys275Asn)	OR3A1, OR3A2 (K275N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381229	NM_002550.3(OR3A1):c.280G>T (p.Ala94Ser)	OR3A1, OR3A2 (A94S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381228	NM_002550.3(OR3A1):c.278G>T (p.Arg93Leu)	OR3A1, OR3A2 (R93L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380315	NM_002550.3(OR3A1):c.271C>T (p.Arg91Cys)	OR3A1, OR3A2 (R91C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377422	NM_002550.3(OR3A1):c.49C>G (p.Leu17Val)	OR3A1, OR3A2 (L17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367056	NM_002550.3(OR3A1):c.533A>G (p.Asn178Ser)	OR3A1, OR3A2 (N178S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326423	NM_002550.3(OR3A1):c.124G>T (p.Val42Phe)	OR3A1, OR3A2 (V42F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298649	NM_002550.3(OR3A1):c.844A>G (p.Thr282Ala)	OR3A1, OR3A2 (T282A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289937	NM_002550.3(OR3A1):c.833G>A (p.Gly278Glu)	OR3A1, OR3A2 (G278E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265142	NM_002550.3(OR3A1):c.816C>A (p.Asp272Glu)	OR3A1, OR3A2 (D272E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251546	NM_002550.3(OR3A1):c.564C>G (p.Phe188Leu)	OR3A1, OR3A2 (F188L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239774	NM_002550.3(OR3A1):c.868C>G (p.Pro290Ala)	OR3A1, OR3A2 (P290A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236418	NM_002550.3(OR3A1):c.391C>T (p.Arg131Trp)	OR3A1, OR3A2 (R131W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226658	NM_002550.3(OR3A1):c.473A>G (p.Asn158Ser)	OR3A1, OR3A2 (N158S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226093	NM_002550.3(OR3A1):c.272G>A (p.Arg91His)	OR3A1, OR3A2 (R91H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1807785	GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	ASPA, BHLHA9 +46 more	Copy number gain	not provided	GPathogenic
Select item 1403973	NC_000017.10:g.(?_2541583)_(3819519_?)del	ASPA, CAMKK1 +26 more	Deletion	not provided	GPathogenic
Select item 1340916	GRCh37/hg19 17p13.3-13.2(chr17:2646815-3698838)x3	ASPA, CTNS +21 more	Copy number gain	not provided	GUncertain significance
Select item 1340672	GRCh37/hg19 17p13.3-13.2(chr17:2809266-3424183)x3	ASPA, LOC100288728 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1180511	GRCh37/hg19 17p13.3-13.2(chr17:2313096-3735525)x1	OR1G1, OR3A1 +25 more	Copy number loss	not provided	GPathogenic
Select item 816557	GRCh37/hg19 17p13.3(chr17:3039323-3237621)x1	OR3A2, OR1A1 +3 more	Copy number loss	not provided	GLikely benign
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 815893	GRCh37/hg19 17p13.3-13.2(chr17:3146183-3646235)x3	ASPA, CTNS +14 more	Copy number gain	not provided	GLikely benign
Select item 815892	GRCh37/hg19 17p13.3(chr17:3057412-3228987)x1	OR1A2, OR3A1 +3 more	Copy number loss	not provided	GLikely benign
Select item 815890	GRCh37/hg19 17p13.3(chr17:2966291-3247171)x3	OR1G1, OR1A2 +6 more	Copy number gain	not provided	GLikely benign
Select item 777093	NM_002550.3(OR3A1):c.274A>T (p.Lys92Ter)	OR3A1, OR3A2 (K92*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 777092	NM_002550.3(OR3A1):c.524A>G (p.Asn175Ser)	OR3A1, OR3A2 (N175S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 777091	NM_002550.3(OR3A1):c.541T>C (p.Tyr181His)	OR3A1, OR3A2 (Y181H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 685921	GRCh37/hg19 17p13.3-13.2(chr17:3160211-3424544)x3	ASPA, OR1E1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564389	GRCh37/hg19 17p13.3-13.2(chr17:2944083-3429136)x3	OR3A1, SPATA22 +12 more	Copy number gain	not provided	GUncertain significance
Select item 564388	GRCh37/hg19 17p13.3(chr17:2834635-3206175)x3	OR1G1, OR1A2 +7 more	Copy number gain	not provided	GLikely benign
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 523262	GRCh37/hg19 17p13.3-13.2(chr17:2339561-3447162)	ASPA, OR3A1 +16 more	Copy number loss	Lissencephaly	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 443023	GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	ABR, ASPA +68 more	Copy number loss	See cases	GPathogenic
Select item 442222	GRCh37/hg19 17p13.3-13.2(chr17:1922768-3429136)x3	ASPA, CLUH +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442031	GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	ABR, ANKFY1 +72 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 394212	GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1	ABR, ASPA +55 more	Copy number loss	See cases	GPathogenic
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic
Select item 155543	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3	ASPA, CTNS +47 more	Copy number gain	See cases	GLikely benign
Select item 154828	GRCh38/hg38 17p13.3-13.2(chr17:2922729-3436438)x3	LOC100288728, LOC101927911 +16 more	Copy number gain	See cases	GPathogenic
Select item 154726	GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153806	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	ASPA, ATP2A3 +166 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 148256	GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3	ASPA, CTNS +28 more	Copy number gain	See cases	GUncertain significance
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 144439	GRCh38/hg38 17p13.3-13.2(chr17:3155468-3543868)x1	ASPA, LOC100288728 +12 more	Copy number loss	See cases	GBenign
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 60099	GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3	ASPA, CTNS +33 more	Copy number gain	See cases	GUncertain significance
Select item 59562	GRCh38/hg38 17p13.3-13.2(chr17:2527510-3467165)x1	CCDC92B, CLUH +36 more	Copy number loss	See cases	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 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

Links from Gene

Items: 97