"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CYP1B1"[ge - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166969	NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser)	CYP1B1, LOC128772254 (N453S)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +5 more	GBenign/Likely benign
Select item 166971	NM_000104.4(CYP1B1):c.1294= (p.Leu432=)	CYP1B1, LOC128772254	Single nucleotide variant (no sequence alteration)	not provided +4 more	GBenign/Likely benign
Select item 2650837	NM_000104.4(CYP1B1):c.1278T>G (p.Ser426=)	CYP1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1701377	NM_000104.4(CYP1B1):c.1102_1104delinsATC (p.Arg368Ile)	CYP1B1 (R368I)	Indel (missense variant)	not provided	GLikely pathogenic
Select item 7739	NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	CYP1B1 (R368H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 707692	NM_000104.4(CYP1B1):c.1078T>C (p.Leu360=)	CYP1B1	Single nucleotide variant (synonymous variant)	Glaucoma 3A +3 more	GConflicting classifications of pathogenicity
Select item 282564	NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs)	CYP1B1 (R355fs)	Deletion (frameshift variant)	Congenital glaucoma +5 more	GPathogenic
Select item 1335387	NM_000104.4(CYP1B1):c.797GCAACTTCA[1] (p.Ser269_Phe271del)	CYP1B1	Microsatellite (inframe_deletion)	Anterior segment dysgenesis 6 +1 more	GConflicting classifications of pathogenicity
Select item 2650838	NM_000104.4(CYP1B1):c.492A>G (p.Gln164=)	CYP1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 7744	NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)	CYP1B1 (Y81N)	Single nucleotide variant (missense variant)	Congenital glaucoma +5 more	GConflicting classifications of pathogenicity
Select item 7730	NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)	CYP1B1 (G61E)	Single nucleotide variant (missense variant)	Congenital glaucoma +4 more	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	HADHA, HADHB +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 493592	GRCh37/hg19 2p22.2(chr2:38295087-38570650)x3	CYP1B1, ATL2	Copy number gain	not provided	GUncertain significance