CYP4V2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	LOC132089056, LOC132089057 +1245 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993256, LOC129993257 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	NDUFC1, NEIL3 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	AADAT, ABCE1 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	LOC129993386, LOC129993387 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993497, LOC129993498 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	SCRG1, SH3RF1 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	LOC129993480, LOC129993481 +466 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993505, LOC129993506 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	AADAT, ACSL1 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	AADAT, ACSL1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LINC02500, LINC02504 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	ACSL1, ADAM29 +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	ACSL1, ADAM29 +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	FAM149A, FAT1 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	LOC129993464, LOC129993465 +339 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 59532	GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	LOC129993464, LOC129993465 +293 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	ACSL1, ANKRD37 +285 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	LOC129993443, LOC129993444 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	LOC126807246, LOC126807247 +286 more	Copy number loss	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	ACSL1, ANKRD37 +282 more	Copy number gain	See cases	GPathogenic
Select item 58062	GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	ACSL1, ANKRD37 +267 more	Copy number gain	See cases	GPathogenic
Select item 146393	GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	ACSL1, ANKRD37 +275 more	Copy number gain	See cases	GLikely pathogenic
Select item 148270	GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	LOC129993452, LOC129993453 +275 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	ACSL1, ANKRD37 +274 more	Copy number gain	See cases	GPathogenic
Select item 144872	GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	ACSL1, ANKRD37 +256 more	Copy number loss	See cases	GPathogenic
Select item 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 59536	GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	ACSL1, ANKRD37 +228 more	Copy number loss	See cases	GPathogenic
Select item 57066	GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	ACSL1, ANKRD37 +197 more	Copy number loss	See cases	GPathogenic
Select item 147808	GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1	ACSL1, ANKRD37 +206 more	Copy number loss	See cases	GPathogenic
Select item 144227	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1	ACSL1, ANKRD37 +185 more	Copy number loss	See cases	GLikely pathogenic
Select item 144226	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3	LOC129993511, LOC129993512 +185 more	Copy number gain	See cases	GPathogenic
Select item 144741	GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3	ACSL1, ANKRD37 +162 more	Copy number gain	See cases	GPathogenic
Select item 152921	GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3	ANKRD37, CCDC110 +69 more	Copy number gain	See cases	GPathogenic
Select item 59537	GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1	ANKRD37, CCDC110 +118 more	Copy number loss	See cases	GPathogenic
Select item 153280	GRCh38/hg38 4q35.1-35.2(chr4:185290811-187350114)x1	ANKRD37, CCDC110 +67 more	Copy number loss	See cases	GLikely benign
Select item 545305	Single allele	ANKRD37, CCDC110 +80 more	Duplication	Autism	GLikely pathogenic
Select item 59551	GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1	ANKRD37, CCDC110 +92 more	Copy number loss	See cases	GPathogenic
Select item 155508	GRCh38/hg38 4q35.1-35.2(chr4:185601825-187530334)x3	CYP4V2, F11 +38 more	Copy number gain	See cases	GUncertain significance
Select item 644265	NC_000004.12:g.(?_185684754)_(186709827_?)del	SORBS2, TLR3 +26 more	Deletion	not provided	GPathogenic
Select item 150816	GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1	CYP4V2, F11 +75 more	Copy number loss	See cases	GUncertain significance
Select item 57915	GRCh38/hg38 4q35.1-35.2(chr4:185738786-186557156)x3	CYP4V2, F11 +18 more	Copy number gain	See cases	GUncertain significance
Select item 149571	GRCh38/hg38 4q35.1-35.2(chr4:185790027-187829822)x4	CYP4V2, F11 +41 more	Copy number gain	See cases	GUncertain significance
Select item 152067	GRCh38/hg38 4q35.1-35.2(chr4:185991833-186443602)x1	CYP4V2, F11 +13 more	Copy number loss	See cases	GUncertain significance
Select item 155401	GRCh38/hg38 4q35.1-35.2(chr4:186008491-186212590)x4	CYP4V2, FAM149A +10 more	Copy number gain	See cases	GLikely benign
Select item 223122	NC_000004.12:g.(?_186013132)_(186215992_?)dup	CYP4V2, FAM149A +10 more	Duplication	Autism spectrum disorder	GUncertain significance
Select item 149040	GRCh38/hg38 4q35.1-35.2(chr4:186037136-186271594)x1	CYP4V2, F11 +10 more	Copy number loss	See cases	GPathogenic
Select item 148762	GRCh38/hg38 4q35.1-35.2(chr4:186129390-190095391)x1	CYP4V2, DBET +72 more	Copy number loss	See cases	GUncertain significance
Select item 146635	GRCh38/hg38 4q35.1-35.2(chr4:186187749-189800953)x1	MTNR1A, TRIML1 +62 more	Copy number loss	See cases	GPathogenic
Select item 1281088	NR_046264.1(FLJ38576):n.188A>G	CYP4V2, FLJ38576	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1286109	NR_046264.1(FLJ38576):n.16C>G	CYP4V2, FLJ38576 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 348287	NM_207352.3(CYP4V2):c.-302G>A	CYP4V2, LOC129993526	Single nucleotide variant	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 348288	NM_207352.3(CYP4V2):c.-296A>C	CYP4V2, LOC129993526	Single nucleotide variant	not provided +2 more	GBenign
Select item 348289	NM_207352.4(CYP4V2):c.-199C>T	CYP4V2, LOC129993526	Single nucleotide variant (5 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 348290	NM_207352.4(CYP4V2):c.-178C>T	CYP4V2, LOC129993526	Single nucleotide variant (5 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 348291	NM_207352.4(CYP4V2):c.-152A>G	CYP4V2, LOC129993526	Single nucleotide variant (5 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +2 more	GBenign
Select item 348292	NM_207352.4(CYP4V2):c.-146C>T	CYP4V2, LOC129993526	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 900541	NM_207352.4(CYP4V2):c.-133G>T	CYP4V2, LOC129993526	Single nucleotide variant (5 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 348293	NM_207352.4(CYP4V2):c.-130del	CYP4V2, LOC129993526	Deletion (5 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GLikely benign
Select item 348294	NM_207352.4(CYP4V2):c.-128A>G	CYP4V2, LOC129993526	Single nucleotide variant (5 prime UTR variant)	Corneal dystrophy +1 more	GBenign/Likely benign
Select item 348295	NM_207352.4(CYP4V2):c.-56C>G	CYP4V2, LOC129993526	Single nucleotide variant (5 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 902209	NM_207352.4(CYP4V2):c.-22C>G	CYP4V2, LOC129993526	Single nucleotide variant (5 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 2007926	NM_207352.4(CYP4V2):c.13_24dup (p.Leu8_Val9insTrpLeuGlyLeu)	CYP4V2, LOC129993526	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2127721	NM_207352.4(CYP4V2):c.9G>T (p.Gly3=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137155	NM_207352.4(CYP4V2):c.12C>G (p.Leu4=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1005466	NM_207352.4(CYP4V2):c.14G>C (p.Trp5Ser)	CYP4V2, LOC129993526 (W5S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1661224	NM_207352.4(CYP4V2):c.24C>G (p.Leu8=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 348296	NM_207352.4(CYP4V2):c.24C>T (p.Leu8=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 2122888	NM_207352.4(CYP4V2):c.25G>C (p.Val9Leu)	CYP4V2, LOC129993526 (V9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 794058	NM_207352.4(CYP4V2):c.37C>T (p.Leu13=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1026579	NM_207352.4(CYP4V2):c.40C>G (p.Leu14Val)	CYP4V2, LOC129993526 (L14V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 840464	NM_207352.4(CYP4V2):c.44T>C (p.Leu15Pro)	CYP4V2, LOC129993526 (L15P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2753312	NM_207352.4(CYP4V2):c.46del (p.Trp16fs)	CYP4V2, LOC129993526 (W16fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3075981	NM_207352.4(CYP4V2):c.47G>A (p.Trp16Ter)	CYP4V2, LOC129993526 (W16*)	Single nucleotide variant (nonsense)	Bietti crystalline corneoretinal dystrophy	GLikely pathogenic
Select item 1933599	NM_207352.4(CYP4V2):c.61G>A (p.Ala21Thr)	CYP4V2, LOC129993526 (A21T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 39267	NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)	CYP4V2, LOC129993526 (L22V)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 953153	NM_207352.4(CYP4V2):c.68C>A (p.Ser23Tyr)	CYP4V2, LOC129993526 (S23Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420881	NM_207352.4(CYP4V2):c.73G>A (p.Ala25Thr)	CYP4V2 (A25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1906530	NM_207352.4(CYP4V2):c.79G>A (p.Ala27Thr)	CYP4V2 (A27T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419306	NM_207352.4(CYP4V2):c.82A>G (p.Ser28Gly)	CYP4V2 (S28G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1996315	NM_207352.4(CYP4V2):c.83G>C (p.Ser28Thr)	CYP4V2 (S28T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1631277	NM_207352.4(CYP4V2):c.91C>T (p.Leu31=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782095	NM_207352.4(CYP4V2):c.99G>A (p.Leu33=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1039696	NM_207352.4(CYP4V2):c.101T>C (p.Leu34Pro)	CYP4V2 (L34P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027682	NM_207352.4(CYP4V2):c.106A>G (p.Arg36Gly)	CYP4V2 (R36G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1629293	NM_207352.4(CYP4V2):c.120C>T (p.Tyr40=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 812304	NM_207352.4(CYP4V2):c.120C>G (p.Tyr40Ter)	CYP4V2 (Y40*)	Single nucleotide variant (nonsense)	Bietti crystalline corneoretinal dystrophy	GPathogenic
Select item 3027683	NM_207352.4(CYP4V2):c.123G>A (p.Ala41=)	CYP4V2	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance

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