"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CYP1B1"[gene] - ClinVar

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Items: 25

	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 166969	NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser)	LOC128772254, CYP1B1 (N453S)	Single nucleotide variant (missense variant)	Glaucoma 3A +5 more	GBenign/Likely benign
Select item 68466	NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs)	CYP1B1 (T404fs)	Duplication (frameshift variant)	Congenital glaucoma +5 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 1210852	NM_000104.4(CYP1B1):c.1099dup (p.Asp367fs)	CYP1B1 (D367fs)	Duplication (frameshift variant)	Glaucoma 3A +3 more	GLikely pathogenic
Select item 282564	NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs)	CYP1B1 (R355fs)	Deletion (frameshift variant)	not provided +6 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 225333	NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu)	CYP1B1 (V320L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 68468	NM_000104.4(CYP1B1):c.868dup (p.Arg290fs)	CYP1B1 (R290fs)	Duplication (frameshift variant)	Congenital glaucoma +5 more	GPathogenic
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 265390	NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer)	CYP1B1	Deletion (nonsense)	Anterior segment dysgenesis 6 +4 more	GPathogenic/Likely pathogenic
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 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 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 523943	NM_000104.4(CYP1B1):c.535del (p.Ala179fs)	CYP1B1 (A179fs)	Deletion (frameshift variant)	Congenital glaucoma +6 more	GPathogenic
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 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 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 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 92437	NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser)	CYP1B1 (A119S)	Single nucleotide variant (missense variant)	Glaucoma 3A +5 more	GBenign/Likely benign
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 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 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 335958	NM_000104.4(CYP1B1):c.-2G>A	CYP1B1	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GUncertain significance

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Items: 25