4991[Gene ID] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	MIR22HG, MIR3183 +464 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	LOC130059866, LOC130059867 +499 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	HIC1, INPP5K +303 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059934, LOC130059935 +243 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	ABR, ABR-AS1 +352 more	Copy number loss	See cases	GPathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	CCDC92B, CLUH +164 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	ASPA, CCDC92B +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	UBE2G1, USP6 +304 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 148240	GRCh38/hg38 17p13.3(chr17:2842174-3102332)x1	LOC101927911, LOC126862462 +6 more	Copy number loss	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 60099	GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3	ASPA, CTNS +33 more	Copy number gain	See cases	GUncertain significance
Select item 2489225	NM_002548.3(OR1D2):c.769A>G (p.Met257Val)	OR1D2 (M257V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208640	NM_002548.3(OR1D2):c.736G>A (p.Gly246Ser)	OR1D2 (G246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469459	NM_002548.3(OR1D2):c.730C>T (p.His244Tyr)	OR1D2 (H244Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247442	NM_002548.3(OR1D2):c.457G>A (p.Val153Ile)	OR1D2 (V153I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204860	NM_002548.3(OR1D2):c.404C>A (p.Ala135Asp)	OR1D2 (A135D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204859	NM_002548.3(OR1D2):c.363C>A (p.Asp121Glu)	OR1D2 (D121E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403446	NM_002548.3(OR1D2):c.264T>G (p.His88Gln)	OR1D2 (H88Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211415	NM_002548.3(OR1D2):c.216C>G (p.Phe72Leu)	OR1D2 (F72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455573	NM_002548.3(OR1D2):c.215T>C (p.Phe72Ser)	OR1D2 (F72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204857	NM_002548.3(OR1D2):c.172C>A (p.Pro58Thr)	OR1D2 (P58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525099	NM_002548.3(OR1D2):c.167A>C (p.His56Pro)	OR1D2 (H56P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607310	NM_002548.3(OR1D2):c.161G>A (p.Arg54His)	OR1D2 (R54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520358	NM_002548.3(OR1D2):c.51G>C (p.Met17Ile)	OR1D2 (M17I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471368	NM_002548.3(OR1D2):c.51G>A (p.Met17Ile)	OR1D2 (M17I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302952	NM_002548.3(OR1D2):c.26G>T (p.Gly9Val)	OR1D2 (G9V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204858	NM_002548.3(OR1D2):c.17A>G (p.Gln6Arg)	OR1D2 (Q6R)	Single nucleotide variant (missense variant)	not specified	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 3063527	GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1	CLUH, DPH1 +26 more	Copy number loss	not specified	GPathogenic
Select item 3063526	GRCh37/hg19 17p13.3(chr17:2416420-3023516)x3	CLUH, OR1D2 +3 more	Copy number gain	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	OR1E2, OR1G1 +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	ASPA, CLUH +25 more	Copy number loss	not provided	GPathogenic
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	CLUH, CRK +115 more	Copy number loss	See cases	GPathogenic
Select item 815890	GRCh37/hg19 17p13.3(chr17:2966291-3247171)x3	OR1G1, OR1A2 +6 more	Copy number gain	not provided	GLikely benign
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	RTN4RL1, SCARF1 +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)	OR1E2, CLUH +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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +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 395275	GRCh37/hg19 17p13.3(chr17:2804895-3058762)x3	LOC100288728, OR1D2 +3 more	Copy number gain	See cases	GLikely benign
Select item 394212	GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1	GEMIN4, ABR +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: 69