OR1E2[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	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 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
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 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
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 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
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 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 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 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 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 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
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 154828	GRCh38/hg38 17p13.3-13.2(chr17:2922729-3436438)x3	LOC100288728, LOC101927911 +16 more	Copy number gain	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 148256	GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3	ASPA, CTNS +28 more	Copy number gain	See cases	GUncertain significance
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 155543	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3	ASPA, CTNS +47 more	Copy number gain	See cases	GLikely benign
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 154726	GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2611766	NM_003554.2(OR1E2):c.935G>C (p.Arg312Thr)	OR1E2 (R312T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647232	NM_003554.2(OR1E2):c.885C>T (p.Thr295=)	OR1E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2262075	NM_003554.2(OR1E2):c.793A>T (p.Ile265Phe)	OR1E2 (I265F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204879	NM_003554.2(OR1E2):c.716C>A (p.Ser239Tyr)	OR1E2 (S239Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204878	NM_003554.2(OR1E2):c.680A>G (p.Tyr227Cys)	OR1E2 (Y227C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351416	NM_003554.2(OR1E2):c.593G>T (p.Cys198Phe)	OR1E2 (C198F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258574	NM_003554.2(OR1E2):c.510A>T (p.Leu170Phe)	OR1E2 (L170F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392183	NM_003554.2(OR1E2):c.464C>T (p.Ala155Val)	OR1E2 (A155V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457168	NM_003554.2(OR1E2):c.440C>G (p.Pro147Arg)	OR1E2 (P147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264931	NM_003554.2(OR1E2):c.427G>A (p.Ala143Thr)	OR1E2 (A143T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278389	NM_003554.2(OR1E2):c.395A>C (p.Tyr132Ser)	OR1E2 (Y132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204877	NM_003554.2(OR1E2):c.392A>C (p.His131Pro)	OR1E2 (H131P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490399	NM_003554.2(OR1E2):c.367T>C (p.Tyr123His)	OR1E2 (Y123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471127	NM_003554.2(OR1E2):c.364C>G (p.Arg122Gly)	OR1E2 (R122G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617075	NM_003554.2(OR1E2):c.352A>G (p.Met118Val)	OR1E2 (M118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545330	NM_003554.2(OR1E2):c.336C>G (p.Ser112Arg)	OR1E2 (S112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204876	NM_003554.2(OR1E2):c.254T>A (p.Met85Lys)	OR1E2 (M85K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390454	NM_003554.2(OR1E2):c.76C>G (p.Leu26Val)	OR1E2 (L26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302555	NM_003554.2(OR1E2):c.27C>G (p.Ile9Met)	OR1E2 (I9M)	Single nucleotide variant (missense variant)	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 3063514	GRCh37/hg19 17p13.2(chr17:3300933-3536977)x1	ASPA, OR1E1 +6 more	Copy number loss	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 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 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 688974	GRCh37/hg19 17p13.3-13.2(chr17:3288124-3441645)x1	ASPA, OR1E1 +4 more	Copy number loss	not provided	GUncertain significance
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 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

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Items: 72