ClinVar for MedGen (Select 383912) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236697	NM_000104.4(CYP1B1):c.1333T>A (p.Phe445Ile)	CYP1B1, LOC128772254 (F445I)	Single nucleotide variant (missense variant)	Primary congenital glaucoma +1 more	GPathogenic/Likely pathogenic
Select item 3236696	NM_000104.4(CYP1B1):c.1147G>A (p.Ala383Thr)	CYP1B1 (A383T)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GLikely pathogenic
Select item 3236694	NM_000104.4(CYP1B1):c.1139A>G (p.Tyr380Cys)	CYP1B1 (Y380C)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +2 more	GConflicting classifications of pathogenicity
Select item 3236111	NM_000104.4(CYP1B1):c.83C>A (p.Ser28Ter)	CYP1B1 (S28*)	Single nucleotide variant (nonsense)	Glaucoma 3A	GPathogenic
Select item 2687741	NM_000104.4(CYP1B1):c.9del (p.Ser4fs)	CYP1B1 (S4fs)	Deletion (frameshift variant)	Glaucoma 3A	GPathogenic
Select item 2628067	NM_015692.5(CPAMD8):c.3798_3861+1759del	CPAMD8	Deletion (splice acceptor variant +1 more)	Glaucoma 3A	GPathogenic
Select item 2628045	NM_000104.4(CYP1B1):c.1064G>C (p.Arg355Pro)	CYP1B1 (R355P)	Single nucleotide variant (missense variant)	Glaucoma 3A	GLikely pathogenic
Select item 2628023	NM_012293.3(PXDN):c.1838-2A>G	PXDN	Single nucleotide variant (splice acceptor variant)	Glaucoma 3A	GPathogenic
Select item 2500809	NM_000104.4(CYP1B1):c.350G>A (p.Arg117Gln)	CYP1B1 (R117Q)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GConflicting classifications of pathogenicity
Select item 2203048	NM_000104.4(CYP1B1):c.1168C>A (p.Arg390Ser)	CYP1B1 (R390S)	Single nucleotide variant (missense variant)	Primary congenital glaucoma +2 more	GPathogenic
Select item 1687366	NM_000104.4(CYP1B1):c.1325del (p.Pro442fs)	CYP1B1, LOC128772254 (P442fs)	Deletion (frameshift variant)	Glaucoma 3A +1 more	GPathogenic/Likely pathogenic
Select item 1488122	NM_000104.4(CYP1B1):c.947A>T (p.Asp316Val)	CYP1B1 (D316V)	Single nucleotide variant (missense variant)	Congenital glaucoma +4 more	GUncertain significance
Select item 1442930	NM_000104.4(CYP1B1):c.55C>T (p.Gln19Ter)	CYP1B1 (Q19*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6 +3 more	GPathogenic
Select item 1343424	NM_000104.4(CYP1B1):c.1033C>T (p.Leu345Phe)	CYP1B1 (L345F)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1339135	NM_000104.4(CYP1B1):c.1044-2A>G	CYP1B1	Single nucleotide variant (splice acceptor variant)	Glaucoma 3A	GLikely pathogenic
Select item 1338800	NM_000104.4(CYP1B1):c.710C>A (p.Ala237Glu)	CYP1B1 (A237E)	Single nucleotide variant (missense variant)	Primary congenital glaucoma +1 more	GPathogenic/Likely pathogenic
Select item 1335386	NM_000104.4(CYP1B1):c.859G>A (p.Ala287Thr)	CYP1B1 (A287T)	Single nucleotide variant (missense variant)	Glaucoma 3A +4 more	GConflicting classifications of pathogenicity
Select item 1331361	NM_000104.4(CYP1B1):c.1198C>T (p.Pro400Ser)	CYP1B1 (P400S)	Single nucleotide variant (missense variant)	Glaucoma 3A +2 more	GConflicting classifications of pathogenicity
Select item 1329081	NM_000104.4(CYP1B1):c.431A>G (p.Gln144Arg)	CYP1B1 (Q144R)	Single nucleotide variant (missense variant)	Glaucoma 3A +3 more	GUncertain significance
Select item 1322184	NM_000104.4(CYP1B1):c.517G>T (p.Glu173Ter)	CYP1B1 (E173*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6 +3 more	GPathogenic
Select item 1210852	NM_000104.4(CYP1B1):c.1099dup (p.Asp367fs)	CYP1B1 (D367fs)	Duplication (frameshift variant)	Glaucoma 3A +3 more	GLikely pathogenic
Select item 1172842	NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu)	CYP1B1 (P193L)	Single nucleotide variant (missense variant)	Primary congenital glaucoma +3 more	GLikely pathogenic
Select item 1120045	NM_000104.4(CYP1B1):c.434_443del (p.Arg145fs)	CYP1B1 (R145fs)	Deletion (frameshift variant)	Glaucoma 3A	GPathogenic
Select item 1065602	NM_000104.4(CYP1B1):c.1081G>T (p.Asp361Tyr)	CYP1B1 (D361Y)	Single nucleotide variant (missense variant)	Glaucoma 3A	GLikely pathogenic
Select item 1030597	NM_000104.4(CYP1B1):c.181G>A (p.Gly61Arg)	CYP1B1 (G61R)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GConflicting classifications of pathogenicity
Select item 976100	NM_000104.4(CYP1B1):c.908A>C (p.Lys303Thr)	CYP1B1 (K303T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 973774	NM_000104.4(CYP1B1):c.1460T>C (p.Leu487Pro)	CYP1B1 (L487P)	Single nucleotide variant (missense variant)	Glaucoma 3A	GPathogenic
Select item 973773	NM_000104.4(CYP1B1):c.1044-3C>G	CYP1B1	Single nucleotide variant (intron variant)	Glaucoma 3A	GPathogenic
Select item 899330	NM_000104.4(CYP1B1):c.*233A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 899269	NM_000104.4(CYP1B1):c.*945C>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 899268	NM_000104.4(CYP1B1):c.*972T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 899216	NM_000104.4(CYP1B1):c.*1544G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 899215	NM_000104.4(CYP1B1):c.*1561A>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 899214	NM_000104.4(CYP1B1):c.*1611G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 899150	NM_000104.4(CYP1B1):c.*1956A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 899149	NM_000104.4(CYP1B1):c.*1961G>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 899095	NM_000104.4(CYP1B1):c.*3024T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 899094	NM_000104.4(CYP1B1):c.*3064A>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 899093	NM_000104.4(CYP1B1):c.*3086T>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 898439	NM_000104.4(CYP1B1):c.-80C>G	CYP1B1	Single nucleotide variant (5 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 898366	NM_000104.4(CYP1B1):c.381C>T (p.Ser127=)	CYP1B1	Single nucleotide variant (synonymous variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 898365	NM_000104.4(CYP1B1):c.498C>G (p.Leu166=)	CYP1B1	Single nucleotide variant (synonymous variant)	Irido-corneo-trabecular dysgenesis +2 more	GConflicting classifications of pathogenicity
Select item 898364	NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile)	CYP1B1 (V198I)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +6 more	GConflicting classifications of pathogenicity
Select item 898290	NM_000104.4(CYP1B1):c.1089C>T (p.Val363=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma +2 more	GConflicting classifications of pathogenicity
Select item 898167	NM_000104.4(CYP1B1):c.*980A>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 898166	NM_000104.4(CYP1B1):c.*1056G>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 898095	NM_000104.4(CYP1B1):c.*1683A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 898094	NM_000104.4(CYP1B1):c.*1746T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 898093	NM_000104.4(CYP1B1):c.*1766G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 898037	NM_000104.4(CYP1B1):c.*2209A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 898036	NM_000104.4(CYP1B1):c.*2261A>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GLikely benign
Select item 898035	NM_000104.4(CYP1B1):c.*2289G>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 898034	NM_000104.4(CYP1B1):c.*2304A>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 897268	NM_000104.4(CYP1B1):c.24C>T (p.Asn8=)	CYP1B1	Single nucleotide variant (synonymous variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 897192	NM_000104.4(CYP1B1):c.644G>C (p.Ser215Thr)	CYP1B1 (S215T)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 897191	NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met)	CYP1B1 (T234M)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +5 more	GConflicting classifications of pathogenicity
Select item 897128	NM_000104.4(CYP1B1):c.1319T>G (p.Phe440Cys)	CYP1B1, LOC128772254 (F440C)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 897127	NM_000104.4(CYP1B1):c.1345G>T (p.Asp449Tyr)	CYP1B1, LOC128772254 (D449Y)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 896783	NM_000104.4(CYP1B1):c.226C>A (p.Arg76Ser)	CYP1B1 (R76S)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 896723	NM_000104.4(CYP1B1):c.711G>T (p.Ala237=)	CYP1B1	Single nucleotide variant (synonymous variant)	Irido-corneo-trabecular dysgenesis +2 more	GConflicting classifications of pathogenicity
Select item 896722	NM_000104.4(CYP1B1):c.712G>T (p.Gly238Cys)	CYP1B1 (G238C)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 896721	NM_000104.4(CYP1B1):c.809A>G (p.Asn270Ser)	CYP1B1 (N270S)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 896596	NM_000104.4(CYP1B1):c.*688T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 896466	NM_000104.4(CYP1B1):c.*1798T>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 896465	NM_000104.4(CYP1B1):c.*1853G>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +2 more	GLikely benign
Select item 896404	NM_000104.4(CYP1B1):c.*2498T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 895384	NM_000104.4(CYP1B1):c.277C>T (p.Pro93Ser)	CYP1B1 (P93S)	Single nucleotide variant (missense variant)	Glaucoma 3A +2 more	GUncertain significance
Select item 895383	NM_000104.4(CYP1B1):c.367T>C (p.Phe123Leu)	CYP1B1 (F123L)	Single nucleotide variant (missense variant)	Glaucoma 3A +3 more	GUncertain significance
Select item 895382	NM_000104.4(CYP1B1):c.371G>A (p.Arg124His)	CYP1B1 (R124H)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 895299	NM_000104.4(CYP1B1):c.850C>T (p.Arg284Trp)	CYP1B1 (R284W)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +2 more	GUncertain significance
Select item 895236	NM_000104.4(CYP1B1):c.1593T>G (p.Ser531Arg)	CYP1B1 (S531R)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 895235	NM_000104.4(CYP1B1):c.*43C>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 895178	NM_000104.4(CYP1B1):c.*864T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 895177	NM_000104.4(CYP1B1):c.*917G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 895176	NM_000104.4(CYP1B1):c.*926A>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GLikely benign
Select item 895097	NM_000104.4(CYP1B1):c.*1346A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 895027	NM_000104.4(CYP1B1):c.*1908G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 895026	NM_000104.4(CYP1B1):c.*1910A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 894967	NM_000104.4(CYP1B1):c.*2597A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 894966	NM_000104.4(CYP1B1):c.*2760C>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 813356	NM_000104.4(CYP1B1):c.349C>T (p.Arg117Trp)	CYP1B1 (R117W)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +1 more	GLikely pathogenic
Select item 813355	NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del)	CYP1B1	Deletion (inframe_deletion)	Glaucoma 3A +2 more	GPathogenic/Likely pathogenic
Select item 800862	NM_000104.4(CYP1B1):c.975_978del (p.Asp326fs)	CYP1B1 (D326fs)	Deletion (frameshift variant)	Glaucoma 3A	GLikely pathogenic
Select item 798154	NM_000104.4(CYP1B1):c.653A>T (p.Asp218Val)	CYP1B1 (D218V)	Single nucleotide variant (missense variant)	Congenital glaucoma +2 more	GConflicting classifications of pathogenicity
Select item 707692	NM_000104.4(CYP1B1):c.1078T>C (p.Leu360=)	CYP1B1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 707027	NM_000104.4(CYP1B1):c.147C>A (p.Ser49=)	CYP1B1	Single nucleotide variant (synonymous variant)	Irido-corneo-trabecular dysgenesis +2 more	GConflicting classifications of pathogenicity
Select item 706998	NM_000104.4(CYP1B1):c.1047T>C (p.Tyr349=)	CYP1B1	Single nucleotide variant (synonymous variant)	Glaucoma 3A +2 more	GConflicting classifications of pathogenicity
Select item 632362	NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser)	CYP1B1 (G329S)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +3 more	GPathogenic/Likely pathogenic
Select item 592512	NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)	CYP1B1 (R390H)	Single nucleotide variant (missense variant)	Primary congenital glaucoma +4 more	GPathogenic/Likely pathogenic
Select item 523943	NM_000104.4(CYP1B1):c.535del (p.Ala179fs)	CYP1B1 (A179fs)	Deletion (frameshift variant)	Congenital glaucoma +6 more	GPathogenic
Select item 501002	NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=)	CYP1B1	Single nucleotide variant (synonymous variant)	Irido-corneo-trabecular dysgenesis +3 more	GConflicting classifications of pathogenicity
Select item 417858	NM_000104.4(CYP1B1):c.1063_1075del (p.Arg355fs)	CYP1B1 (R355fs)	Deletion (frameshift variant)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 402578	NM_000104.4(CYP1B1):c.503G>A (p.Gly168Asp)	CYP1B1 (G168D)	Single nucleotide variant (missense variant)	Glaucoma 3A +3 more	GUncertain significance
Select item 335959	NM_000104.4(CYP1B1):c.-84T>C	CYP1B1	Single nucleotide variant (5 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335958	NM_000104.4(CYP1B1):c.-2G>A	CYP1B1	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GUncertain significance
Select item 335957	NM_000104.4(CYP1B1):c.-1-14C>T	CYP1B1	Single nucleotide variant (intron variant)	Glaucoma 3A +2 more	GBenign/Likely benign
Select item 335955	NM_000104.4(CYP1B1):c.8C>A (p.Thr3Asn)	CYP1B1 (T3N)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335953	NM_000104.4(CYP1B1):c.918G>A (p.Gly306=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma +2 more	GConflicting classifications of pathogenicity
Select item 335952	NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys)	CYP1B1 (R390C)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +4 more	GPathogenic
Select item 335951	NM_000104.4(CYP1B1):c.1202A>G (p.His401Arg)	CYP1B1 (H401R)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance

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