ClinVar for Gene (Select 4995) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302816	NM_002551.5(OR3A2):c.821A>G (p.Asp274Gly)	OR3A2 (D274G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302815	NM_002551.5(OR3A2):c.710G>A (p.Arg237Gln)	OR3A2 (R237Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302814	NM_002551.5(OR3A2):c.31G>A (p.Ala11Thr)	OR3A2 (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3205371	NM_002551.5(OR3A2):c.808G>A (p.Ala270Thr)	OR3A2 (A270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205370	NM_002551.5(OR3A2):c.694C>T (p.Arg232Cys)	OR3A2 (R232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205369	NM_002551.5(OR3A2):c.613G>A (p.Val205Met)	OR3A2 (V205M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205368	NM_002551.5(OR3A2):c.578C>T (p.Ser193Phe)	OR3A2 (S193F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205367	NM_002551.5(OR3A2):c.532A>G (p.Asn178Asp)	OR3A2 (N178D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205366	NM_002551.5(OR3A2):c.350T>G (p.Leu117Arg)	OR3A2 (L117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205365	NM_002551.5(OR3A2):c.260G>A (p.Arg87His)	OR3A2 (R87H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205364	NM_002551.5(OR3A2):c.169A>G (p.Lys57Glu)	OR3A2 (K57E)	Single nucleotide variant (missense variant)	not specified	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 2596768	NM_002551.5(OR3A2):c.500C>T (p.Ser167Phe)	OR3A2 (S167F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592981	NM_002551.5(OR3A2):c.748G>A (p.Val250Met)	OR3A2 (V250M)	Single nucleotide variant (missense variant)	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 2548197	NM_002551.5(OR3A2):c.52C>G (p.Leu18Val)	OR3A2 (L18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523553	NM_002551.5(OR3A2):c.682G>A (p.Val228Ile)	OR3A2 (V228I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2456110	NM_002551.5(OR3A2):c.503C>T (p.Thr168Met)	OR3A2 (T168M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391755	NM_002551.5(OR3A2):c.707G>C (p.Gly236Ala)	OR3A2 (G236A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389762	NM_002551.5(OR3A2):c.385A>G (p.Ile129Val)	OR3A2 (I129V)	Single nucleotide variant (missense variant)	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 2381208	NM_002551.5(OR3A2):c.809C>G (p.Ala270Gly)	OR3A2 (A270G)	Single nucleotide variant (missense variant)	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 2344713	NM_002551.5(OR3A2):c.412C>T (p.Arg138Cys)	OR3A2 (R138C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342666	NM_002551.5(OR3A2):c.494C>T (p.Ala165Val)	OR3A2 (A165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340456	NM_002551.5(OR3A2):c.637C>T (p.Pro213Ser)	OR3A2 (P213S)	Single nucleotide variant (missense variant)	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 2316360	NM_002551.5(OR3A2):c.868C>T (p.Pro290Ser)	OR3A2 (P290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304396	NM_002551.5(OR3A2):c.211G>C (p.Val71Leu)	OR3A2 (V71L)	Single nucleotide variant (missense variant)	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 2280188	NM_002551.5(OR3A2):c.134A>C (p.Asn45Thr)	OR3A2 (N45T)	Single nucleotide variant (missense variant)	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 2245408	NM_002551.5(OR3A2):c.775A>G (p.Ile259Val)	OR3A2 (I259V)	Single nucleotide variant (missense variant)	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 2235827	NM_002551.5(OR3A2):c.844A>G (p.Thr282Ala)	OR3A2 (T282A)	Single nucleotide variant (missense variant)	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 2215147	NM_002551.5(OR3A2):c.413G>A (p.Arg138His)	OR3A2 (R138H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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

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