"GeneDx"[submitter] AND "CYP1B1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 335945	NM_000104.4(CYP1B1):c.*210dup	CYP1B1	Duplication (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +2 more	GBenign
Select item 501002	NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=)	CYP1B1	Single nucleotide variant (synonymous variant)	Irido-corneo-trabecular dysgenesis +3 more	GConflicting classifications of pathogenicity
Select item 456640	NM_000104.4(CYP1B1):c.1412T>A (p.Ile471Asn)	CYP1B1, LOC128772254 (I471N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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 166970	NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Irido-corneo-trabecular dysgenesis +5 more	GBenign
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 92435	NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly)	CYP1B1, LOC128772254 (A443G)	Single nucleotide variant (missense variant)	Glaucoma 3A +4 more	GBenign/Likely benign
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 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
Select item 68466	NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs)	CYP1B1 (T404fs)	Duplication (frameshift variant)	Congenital glaucoma +5 more	GPathogenic
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 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 1489392	NM_000104.4(CYP1B1):c.1102C>T (p.Arg368Cys)	CYP1B1 (R368C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 1412564	NM_000104.4(CYP1B1):c.1063C>T (p.Arg355Ter)	CYP1B1 (R355*)	Single nucleotide variant (nonsense)	Primary congenital glaucoma +3 more	GPathogenic
Select item 3371316	NM_000104.4(CYP1B1):c.1048C>G (p.Pro350Ala)	CYP1B1 (P350A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1221819	NM_000104.4(CYP1B1):c.1044-147dup	CYP1B1	Duplication (intron variant)	not provided	GBenign
Select item 1206581	NM_000104.4(CYP1B1):c.1043+275C>T	CYP1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3364753	NM_000104.4(CYP1B1):c.1043+2dup	CYP1B1	Duplication (splice donor variant)	not provided	GUncertain significance
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 265390	NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer)	CYP1B1	Deletion (nonsense)	Anterior segment dysgenesis 6 +4 more	GPathogenic/Likely pathogenic
Select item 166972	NM_000104.4(CYP1B1):c.729G>C (p.Val243=)	CYP1B1	Single nucleotide variant (synonymous variant)	Irido-corneo-trabecular dysgenesis +4 more	GBenign
Select item 68467	NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)	CYP1B1 (E229K)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +4 more	GBenign/Likely benign; other
Select item 3364236	NM_000104.4(CYP1B1):c.640T>A (p.Tyr214Asn)	CYP1B1 (Y214N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770056	NM_000104.4(CYP1B1):c.594C>T (p.Val198=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma +1 more	GBenign/Likely benign
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 166973	NM_000104.4(CYP1B1):c.564C>A (p.Gly188=)	CYP1B1	Single nucleotide variant (synonymous variant)	Irido-corneo-trabecular dysgenesis +4 more	GBenign
Select item 1315152	NM_000104.4(CYP1B1):c.561C>A (p.Asp187Glu)	CYP1B1 (D187E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523943	NM_000104.4(CYP1B1):c.535del (p.Ala179fs)	CYP1B1 (A179fs)	Deletion (frameshift variant)	Congenital glaucoma +6 more	GPathogenic
Select item 2681129	NM_000104.4(CYP1B1):c.346_363del (p.Asp116_Ala121del)	CYP1B1	Deletion	not provided +2 more	GPathogenic/Likely pathogenic
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 7744	NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)	CYP1B1 (Y81N)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +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 +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 30224	NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu)	CYP1B1 (P52L)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +3 more	GUncertain significance
Select item 92436	NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly)	CYP1B1 (R48G)	Single nucleotide variant (missense variant)	Glaucoma 3A +4 more	GBenign/Likely benign
Select item 1203967	NM_000104.4(CYP1B1):c.1A>G (p.Met1Val)	CYP1B1 (M1V)	Single nucleotide variant (missense variant +1 more)	Primary congenital glaucoma +1 more	GPathogenic/Likely pathogenic
Select item 166974	NM_000104.4(CYP1B1):c.-1-12C>T	CYP1B1	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +4 more	GBenign
Select item 335957	NM_000104.4(CYP1B1):c.-1-14C>T	CYP1B1	Single nucleotide variant (intron variant)	Glaucoma 3A +2 more	GBenign/Likely benign
Select item 1248456	NM_000104.4(CYP1B1):c.-2+129G>A	CYP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 335960	NM_000104.4(CYP1B1):c.-97dup	CYP1B1	Duplication (5 prime UTR variant)	not provided +2 more	GBenign
Select item 1232439	NM_000104.4(CYP1B1):c.-175C>T	CYP1B1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47