Related gene-specific medical variations for Gene (Select 285440) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2920618	NM_207352.4(CYP4V2):c.252C>A (p.Tyr84Ter)	CYP4V2 (Y84*)	Single nucleotide variant (nonsense)	Bietti crystalline corneoretinal dystrophy	GLikely pathogenic
Select item 2753312	NM_207352.4(CYP4V2):c.46del (p.Trp16fs)	CYP4V2, LOC129993526 (W16fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 2127721	NM_207352.4(CYP4V2):c.9G>T (p.Gly3=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2007926	NM_207352.4(CYP4V2):c.13_24dup (p.Leu8_Val9insTrpLeuGlyLeu)	CYP4V2, LOC129993526	Duplication (inframe_insertion)	not provided	GUncertain significance
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 1661224	NM_207352.4(CYP4V2):c.24C>G (p.Leu8=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1322187	NM_207352.4(CYP4V2):c.267del (p.Leu89_Leu90insTer)	CYP4V2	Deletion (frameshift variant)	Bietti crystalline corneoretinal dystrophy	GPathogenic
Select item 1026579	NM_207352.4(CYP4V2):c.40C>G (p.Leu14Val)	CYP4V2, LOC129993526 (L14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 953153	NM_207352.4(CYP4V2):c.68C>A (p.Ser23Tyr)	CYP4V2, LOC129993526 (S23Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 903522	NM_207352.4(CYP4V2):c.*2751A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903521	NM_207352.4(CYP4V2):c.*2708A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903471	NM_207352.4(CYP4V2):c.*2078T>C	KLKB1, CYP4V2	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903470	NM_207352.4(CYP4V2):c.*2010G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903417	NM_207352.4(CYP4V2):c.*1589C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903416	NM_207352.4(CYP4V2):c.*1503A>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903415	NM_207352.4(CYP4V2):c.*1496G>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903414	NM_207352.4(CYP4V2):c.*1474G>T	KLKB1, CYP4V2	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 903357	NM_207352.4(CYP4V2):c.*999C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903356	NM_207352.4(CYP4V2):c.*923G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 902619	NM_207352.4(CYP4V2):c.*1986G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902569	NM_207352.4(CYP4V2):c.*1463G>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902568	NM_207352.4(CYP4V2):c.*1238C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902491	NM_207352.4(CYP4V2):c.*836C>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902490	NM_207352.4(CYP4V2):c.*810C>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 902424	NM_207352.4(CYP4V2):c.*282A>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902423	NM_207352.4(CYP4V2):c.*232G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal 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 901589	NM_207352.4(CYP4V2):c.*2590T>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 901588	NM_207352.4(CYP4V2):c.*2373G>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 901036	NM_207352.4(CYP4V2):c.*2281A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 901035	NM_207352.4(CYP4V2):c.*2266A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 901034	NM_207352.4(CYP4V2):c.*2189A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 900964	NM_207352.4(CYP4V2):c.*1756T>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 900963	NM_207352.4(CYP4V2):c.*1722T>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
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 899863	NM_207352.4(CYP4V2):c.*2166C>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 899862	NM_207352.4(CYP4V2):c.*2163G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899861	NM_207352.4(CYP4V2):c.*2139G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899860	NM_207352.4(CYP4V2):c.*2116A>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899803	NM_207352.4(CYP4V2):c.*1721A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899802	NM_207352.4(CYP4V2):c.*1705C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899801	NM_207352.4(CYP4V2):c.*1690C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899741	NM_207352.4(CYP4V2):c.*1052A>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899679	NM_207352.4(CYP4V2):c.*636A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 899678	NM_207352.4(CYP4V2):c.*449C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 866305	NM_207352.4(CYP4V2):c.792dup (p.Thr265fs)	CYP4V2 (T265fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
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 794058	NM_207352.4(CYP4V2):c.37C>T (p.Leu13=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 348366	NM_207352.4(CYP4V2):c.*2748A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 348365	NM_207352.4(CYP4V2):c.*2622A>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 348364	NM_207352.4(CYP4V2):c.*2399C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 348363	NM_207352.4(CYP4V2):c.*2303G>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GBenign/Likely benign
Select item 348362	NM_207352.4(CYP4V2):c.*2176T>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348361	NM_207352.4(CYP4V2):c.*2106G>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GBenign/Likely benign
Select item 348360	NM_207352.4(CYP4V2):c.*2017T>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348359	NM_207352.4(CYP4V2):c.*1967C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348358	NM_207352.4(CYP4V2):c.*1851A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348357	NM_207352.4(CYP4V2):c.*1781A>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +2 more	GBenign
Select item 348356	NM_207352.4(CYP4V2):c.*1774C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348355	NM_207352.4(CYP4V2):c.*1737A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 348354	NM_207352.4(CYP4V2):c.*1638G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +2 more	GBenign/Likely benign
Select item 348353	NM_207352.4(CYP4V2):c.*1417T>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348352	NM_207352.4(CYP4V2):c.*1317T>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348351	NM_207352.4(CYP4V2):c.*1236A>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 348350	NM_207352.4(CYP4V2):c.*1159T>A	KLKB1, CYP4V2	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 348349	NM_207352.4(CYP4V2):c.*1148A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +2 more	GBenign
Select item 348348	NM_207352.4(CYP4V2):c.1123_1127del	CYP4V2, KLKB1	Deletion (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348347	NM_207352.4(CYP4V2):c.*1057T>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +2 more	GUncertain significance
Select item 348346	NM_207352.4(CYP4V2):c.*1059CA[5]	CYP4V2, KLKB1	Microsatellite (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +2 more	GUncertain significance
Select item 348345	NM_207352.4(CYP4V2):c.*1057delinsCACATACAC	CYP4V2, KLKB1	Indel (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348344	NM_207352.4(CYP4V2):c.*1057delinsCACACATACAC	CYP4V2, KLKB1	Indel (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348343	NM_207352.4(CYP4V2):c.*1057delinsCACACACACATACAC	CYP4V2, KLKB1	Indel (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348342	NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACACATACAC	CYP4V2, KLKB1	Indel (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348341	NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACAC	CYP4V2, KLKB1	Indel (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348340	NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACAC	CYP4V2, KLKB1	Indel (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348339	NM_207352.4(CYP4V2):c.*1057delinsCACACACACAC	CYP4V2, KLKB1	Indel (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348338	NM_207352.4(CYP4V2):c.*1057delinsCACACACAC	CYP4V2, KLKB1	Indel (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348337	NM_207352.4(CYP4V2):c.*1053C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348336	NM_207352.4(CYP4V2):c.1054_1055insTA	CYP4V2, KLKB1	Insertion (3 prime UTR variant)	Corneal Dystrophy, Recessive +2 more	GUncertain significance
Select item 348335	NM_207352.4(CYP4V2):c.1056_1057insCATACA	CYP4V2, KLKB1	Insertion (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348334	NM_207352.4(CYP4V2):c.1056_1057insCACACATACA	CYP4V2, KLKB1	Insertion (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348333	NM_207352.4(CYP4V2):c.*1027C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 348332	NM_207352.4(CYP4V2):c.*1025CA[19]	KLKB1, CYP4V2	Microsatellite (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +2 more	GUncertain significance
Select item 348331	NM_207352.4(CYP4V2):c.*1025CA[18]	KLKB1, CYP4V2	Microsatellite (3 prime UTR variant)	Corneal Dystrophy, Recessive +2 more	GUncertain significance
Select item 348330	NM_207352.4(CYP4V2):c.*1023T>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348329	NM_207352.4(CYP4V2):c.1023_1024del	CYP4V2, KLKB1	Deletion (3 prime UTR variant)	Corneal Dystrophy, Recessive +2 more	GUncertain significance
Select item 348328	NM_207352.4(CYP4V2):c.1023_1026del	CYP4V2, KLKB1	Deletion (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348327	NM_207352.4(CYP4V2):c.*888G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348326	NM_207352.4(CYP4V2):c.*829C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348325	NM_207352.4(CYP4V2):c.*741C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 348324	NM_207352.4(CYP4V2):c.*725C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 348323	NM_207352.4(CYP4V2):c.*715C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348322	NM_207352.4(CYP4V2):c.*659A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348321	NM_207352.4(CYP4V2):c.*452C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 348320	NM_207352.4(CYP4V2):c.*392G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 348319	NM_207352.4(CYP4V2):c.*364T>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign

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