ClinVar for PubMed (Select 27508083) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2843498	NM_000104.4(CYP1B1):c.1400_1411del (p.Lys467_Cys470del)	CYP1B1, LOC128772254	Deletion (inframe_deletion)	Congenital glaucoma	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 845455	NM_000104.4(CYP1B1):c.1331G>A (p.Arg444Gln)	CYP1B1, LOC128772254 (R444Q)	Single nucleotide variant (missense variant)	Congenital glaucoma +3 more	GPathogenic
Select item 592512	NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)	CYP1B1 (R390H)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +4 more	GPathogenic/Likely pathogenic
Select item 523782	NM_000104.4(CYP1B1):c.1330C>T (p.Arg444Ter)	CYP1B1, LOC128772254 (R444*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6 +3 more	GPathogenic
Select item 335952	NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys)	CYP1B1 (R390C)	Single nucleotide variant (missense variant)	Glaucoma 3A +4 more	GPathogenic
Select item 7744	NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)	CYP1B1 (Y81N)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 7739	NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	CYP1B1 (R368H)	Single nucleotide variant (missense variant)	Glaucoma 3A +7 more	GConflicting classifications of pathogenicity
Select item 7733	NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp)	CYP1B1, LOC128772254 (R469W)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic