C1856439[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 22

	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 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 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 282564	NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs)	CYP1B1 (R355fs)	Deletion (frameshift variant)	not provided +6 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 68468	NM_000104.4(CYP1B1):c.868dup (p.Arg290fs)	CYP1B1 (R290fs)	Duplication (frameshift variant)	Congenital glaucoma +5 more	GPathogenic
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 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 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 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 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 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: 22