"Baylor Genetics"[submitter] AND "LOC128772254"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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