ClinVar for MedGen (Select 347895) - 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 1806044	NM_207352.4(CYP4V2):c.833C>T (p.Ala278Val)	CYP4V2 (A278V)	Single nucleotide variant (missense variant)	Bietti crystalline corneoretinal dystrophy	GUncertain significance
Select item 1698830	NM_207352.4(CYP4V2):c.1219G>T (p.Glu407Ter)	CYP4V2 (E407*)	Single nucleotide variant (nonsense)	Bietti crystalline corneoretinal dystrophy	GPathogenic
Select item 1697294	NM_207352.4(CYP4V2):c.801+1G>A	CYP4V2	Single nucleotide variant (splice donor variant)	Bietti crystalline corneoretinal dystrophy	GPathogenic
Select item 1335569	NM_207352.4(CYP4V2):c.414-1G>A	CYP4V2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1322187	NM_207352.4(CYP4V2):c.267del (p.Leu89_Leu90insTer)	CYP4V2	Deletion (frameshift variant)	Bietti crystalline corneoretinal dystrophy	GPathogenic
Select item 930032	NM_207352.4(CYP4V2):c.501_504del (p.Glu168fs)	CYP4V2 (E168fs)	Microsatellite (frameshift variant)	Bietti crystalline corneoretinal dystrophy +1 more	GPathogenic/Likely pathogenic
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 903213	NM_207352.4(CYP4V2):c.1338C>T (p.Pro446=)	CYP4V2	Single nucleotide variant (synonymous variant)	Bietti crystalline corneoretinal dystrophy +4 more	GConflicting classifications of pathogenicity
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 902422	NM_207352.4(CYP4V2):c.*204T>C	CYP4V2	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902421	NM_207352.4(CYP4V2):c.*198A>T	CYP4V2	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902351	NM_207352.4(CYP4V2):c.1184T>C (p.Val395Ala)	CYP4V2 (V395A)	Single nucleotide variant (missense variant)	Corneal dystrophy +2 more	GUncertain significance
Select item 902350	NM_207352.4(CYP4V2):c.1120G>T (p.Asp374Tyr)	CYP4V2 (D374Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 902285	NM_207352.4(CYP4V2):c.772C>A (p.Leu258Ile)	CYP4V2 (L258I)	Single nucleotide variant (missense variant)	Bietti crystalline corneoretinal dystrophy +2 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 900740	NM_207352.4(CYP4V2):c.*172T>C	CYP4V2	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 900739	NM_207352.4(CYP4V2):c.*160A>G	CYP4V2	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 900664	NM_207352.4(CYP4V2):c.1103G>A (p.Arg368His)	CYP4V2 (R368H)	Single nucleotide variant (missense variant)	Bietti crystalline corneoretinal dystrophy +3 more	GUncertain significance
Select item 900663	NM_207352.4(CYP4V2):c.1091-15A>G	CYP4V2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900596	NM_207352.4(CYP4V2):c.674+14T>C	CYP4V2	Single nucleotide variant (intron variant)	Bietti crystalline corneoretinal dystrophy +2 more	GConflicting classifications of pathogenicity
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 899608	NM_207352.4(CYP4V2):c.1344T>C (p.Asn448=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 899530	NM_207352.4(CYP4V2):c.1062A>G (p.Lys354=)	CYP4V2	Single nucleotide variant (synonymous variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 899529	NM_207352.4(CYP4V2):c.987+7T>C	CYP4V2	Single nucleotide variant (intron variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 899528	NM_207352.4(CYP4V2):c.841G>A (p.Asp281Asn)	CYP4V2 (D281N)	Single nucleotide variant (missense variant)	Bietti crystalline corneoretinal dystrophy +2 more	GUncertain significance
Select item 866939	NM_207352.4(CYP4V2):c.694C>T (p.Arg232Ter)	CYP4V2 (R232*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 845917	NM_207352.4(CYP4V2):c.176del (p.Leu59fs)	CYP4V2 (L59fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 812305	NM_207352.4(CYP4V2):c.1123del (p.Asp374_Leu375insTer)	CYP4V2	Deletion (nonsense)	Bietti crystalline corneoretinal dystrophy	GPathogenic
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 802105	NM_207352.4(CYP4V2):c.1169G>T (p.Arg390Leu)	CYP4V2 (R390L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 636213	NM_000350.3(ABCA4):c.3522+6T>C	ABCA4	Single nucleotide variant (intron variant)	Bietti crystalline corneoretinal dystrophy	GUncertain significance
Select item 497287	NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln)	CYP4V2 (R443Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 493404	NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr)	CYP4V2 (A204T)	Single nucleotide variant (missense variant)	CYP4V2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 372290	NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)	ABCA4 (S1071fs)	Duplication (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
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)	Bietti crystalline corneoretinal dystrophy +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)	Bietti crystalline corneoretinal dystrophy +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 +1 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 +1 more	GUncertain significance
Select item 348346	NM_207352.4(CYP4V2):c.*1059CA[5]	CYP4V2, KLKB1	Microsatellite (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 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 +1 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

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