"Baylor Genetics"[submitter] AND "CYP1B1"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 96699	NM_000104.4(CYP1B1):c.1409G>A (p.Cys470Tyr)	LOC128772254, CYP1B1 (C470Y)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 7733	NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp)	CYP1B1, LOC128772254 (R469W)	Single nucleotide variant (missense variant)	Primary congenital glaucoma +4 more	GPathogenic
Select item 1324202	NM_000104.4(CYP1B1):c.1390dup (p.Ser464fs)	CYP1B1, LOC128772254 (S464fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2734162	NM_000104.4(CYP1B1):c.1377_1378del (p.Arg459fs)	CYP1B1, LOC128772254 (R459fs)	Microsatellite (frameshift variant)	Congenital glaucoma +1 more	GPathogenic/Likely pathogenic
Select item 456639	NM_000104.4(CYP1B1):c.1345del (p.Asp449fs)	CYP1B1, LOC128772254 (D449fs)	Deletion (frameshift variant)	Congenital glaucoma +1 more	GPathogenic
Select item 845455	NM_000104.4(CYP1B1):c.1331G>A (p.Arg444Gln)	LOC128772254, CYP1B1 (R444Q)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +2 more	GPathogenic
Select item 523782	NM_000104.4(CYP1B1):c.1330C>T (p.Arg444Ter)	CYP1B1, LOC128772254 (R444*)	Single nucleotide variant (nonsense)	Congenital glaucoma +3 more	GPathogenic
Select item 1254629	NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu)	CYP1B1, LOC128772254 (P437L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2996356	NM_000104.4(CYP1B1):c.1223_1224del (p.Ser408fs)	CYP1B1 (S408fs)	Microsatellite (frameshift variant)	Congenital glaucoma +1 more	GPathogenic/Likely pathogenic
Select item 68466	NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs)	CYP1B1 (T404fs)	Duplication (frameshift variant)	Congenital glaucoma +5 more	GPathogenic
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 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 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 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 7735	NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)	CYP1B1 (E387K)	Single nucleotide variant (missense variant)	Congenital glaucoma +6 more	GPathogenic/Likely pathogenic
Select item 2681123	NM_000104.4(CYP1B1):c.1153C>T (p.Leu385Phe)	CYP1B1 (L385F)	Single nucleotide variant (missense variant)	Congenital glaucoma +1 more	GLikely pathogenic
Select item 2681138	NM_000104.4(CYP1B1):c.1140dup (p.Val381fs)	CYP1B1 (V381fs)	Duplication (frameshift variant)	Congenital glaucoma +1 more	GPathogenic/Likely pathogenic
Select item 3241268	NM_000104.4(CYP1B1):c.1119_1120dup (p.Asp374fs)	CYP1B1 (D374fs)	Duplication (frameshift variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681140	NM_000104.4(CYP1B1):c.1111dup (p.Cys371fs)	CYP1B1 (C371fs)	Duplication (frameshift variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 7739	NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	CYP1B1 (R368H)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1489392	NM_000104.4(CYP1B1):c.1102C>T (p.Arg368Cys)	CYP1B1 (R368C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1339668	NM_000104.4(CYP1B1):c.1090G>A (p.Val364Met)	CYP1B1 (V364M)	Single nucleotide variant (missense variant)	Congenital glaucoma +2 more	GPathogenic
Select item 282564	NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs)	CYP1B1 (R355fs)	Deletion (frameshift variant)	not provided +6 more	GPathogenic
Select item 2681125	NM_000104.4(CYP1B1):c.1075G>T (p.Glu359Ter)	CYP1B1 (E359*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1412564	NM_000104.4(CYP1B1):c.1063C>T (p.Arg355Ter)	CYP1B1 (R355*)	Single nucleotide variant (nonsense)	Primary congenital glaucoma +3 more	GPathogenic
Select item 3241267	NM_000104.4(CYP1B1):c.1043_1043+5delinsC	CYP1B1	Indel (splice donor variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681127	NM_000104.4(CYP1B1):c.1027CTC[2] (p.Leu345del)	CYP1B1 (L345del)	Microsatellite (inframe deletion)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681139	NM_000104.4(CYP1B1):c.1023G>A (p.Trp341Ter)	CYP1B1 (W341*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6	GPathogenic
Select item 2681136	NM_000104.4(CYP1B1):c.994C>T (p.Gln332Ter)	CYP1B1 (Q332*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2203049	NM_000104.4(CYP1B1):c.988_989delinsTT (p.Ala330Phe)	CYP1B1 (A330F)	Indel (missense variant)	Primary congenital glaucoma +2 more	GPathogenic
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 1339669	NM_000104.4(CYP1B1):c.970_971dup (p.Thr325fs)	CYP1B1 (T325fs)	Duplication (frameshift variant)	Congenital glaucoma +2 more	GPathogenic
Select item 2681130	NM_000104.4(CYP1B1):c.872A>G (p.Asp291Gly)	CYP1B1 (D291G)	Single nucleotide variant (missense variant)	Congenital glaucoma +1 more	GPathogenic/Likely pathogenic
Select item 68468	NM_000104.4(CYP1B1):c.868dup (p.Arg290fs)	CYP1B1 (R290fs)	Duplication (frameshift variant)	Congenital glaucoma +5 more	GPathogenic
Select item 2681137	NM_000104.4(CYP1B1):c.868del (p.Arg290fs)	CYP1B1 (R290fs)	Deletion (frameshift variant)	Congenital glaucoma +1 more	GPathogenic
Select item 1076484	NM_000104.4(CYP1B1):c.840C>A (p.Cys280Ter)	CYP1B1 (C280*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 265390	NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer)	CYP1B1	Deletion (nonsense)	Anterior segment dysgenesis 6 +4 more	GPathogenic/Likely pathogenic
Select item 1335387	NM_000104.4(CYP1B1):c.797GCAACTTCA[1] (p.Ser269_Phe271del)	CYP1B1	Microsatellite (inframe_deletion)	Anterior segment dysgenesis 6 +1 more	GPathogenic/Likely pathogenic
Select item 2681134	NM_000104.4(CYP1B1):c.794dup (p.Asn265fs)	CYP1B1 (N265fs)	Duplication (frameshift variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 30223	NM_000104.4(CYP1B1):c.783C>A (p.Phe261Leu)	CYP1B1 (F261L)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 3241270	NM_000104.4(CYP1B1):c.648del (p.His216fs)	CYP1B1 (H216fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 6	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 2681133	NM_000104.4(CYP1B1):c.575A>T (p.Asp192Val)	CYP1B1 (D192V)	Single nucleotide variant (missense variant)	Congenital glaucoma +1 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 3241269	NM_000104.4(CYP1B1):c.501_517dup (p.Glu173delinsGlyAlaThrCysTer)	CYP1B1	Duplication (nonsense)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 917724	NM_000104.4(CYP1B1):c.517G>A (p.Glu173Lys)	CYP1B1 (E173K)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +2 more	GPathogenic
Select item 2681131	NM_000104.4(CYP1B1):c.490C>T (p.Gln164Ter)	CYP1B1 (Q164*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681129	NM_000104.4(CYP1B1):c.346_363del (p.Asp116_Ala121del)	CYP1B1	Deletion	not provided +2 more	GPathogenic/Likely pathogenic
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 2577219	NM_000104.4(CYP1B1):c.317C>A (p.Ala106Asp)	CYP1B1 (A106D)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +2 more	GPathogenic
Select item 2637448	NM_000104.4(CYP1B1):c.277_306delinsGG (p.Pro93fs)	CYP1B1 (P93fs)	Indel (frameshift variant)	Primary congenital glaucoma +1 more	GPathogenic/Likely pathogenic
Select item 3241266	NM_000104.4(CYP1B1):c.296del (p.Gly99fs)	CYP1B1 (G99fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681122	NM_000104.4(CYP1B1):c.256C>T (p.Gln86Ter)	CYP1B1 (Q86*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2860750	NM_000104.4(CYP1B1):c.218C>A (p.Ser73Ter)	CYP1B1 (S73*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6 +1 more	GPathogenic/Likely pathogenic
Select item 7730	NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)	CYP1B1 (G61E)	Single nucleotide variant (missense variant)	Congenital glaucoma +5 more	GPathogenic
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 7737	NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)	CYP1B1 (W57*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6 +5 more	GPathogenic/Likely pathogenic
Select item 2681128	NM_000104.4(CYP1B1):c.170G>A (p.Trp57Ter)	CYP1B1 (W57*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681126	NM_000104.4(CYP1B1):c.158del (p.Gly53fs)	CYP1B1 (G53fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681132	NM_000104.4(CYP1B1):c.58C>T (p.Gln20Ter)	CYP1B1 (Q20*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6	GLikely pathogenic
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

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Items: 62