Related gene-specific medical variations for Gene (Select 1545) - ClinVar

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

Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3014527	NM_000104.4(CYP1B1):c.1377A>G (p.Arg459=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3005909	NM_000104.4(CYP1B1):c.1416C>T (p.Gly472=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2987555	NM_000104.4(CYP1B1):c.1299G>A (p.Lys433=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2969480	NM_000104.4(CYP1B1):c.1335C>T (p.Phe445=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2911674	NM_000104.4(CYP1B1):c.1362G>A (p.Lys454=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2885147	NM_000104.4(CYP1B1):c.1416C>A (p.Gly472=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2867479	NM_000104.4(CYP1B1):c.1336T>C (p.Leu446=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2864518	NM_000104.4(CYP1B1):c.1403_1429dup (p.Arg468_Ser476dup)	CYP1B1, LOC128772254	Duplication (inframe_insertion)	Congenital glaucoma	GPathogenic
Select item 2863501	NM_000104.4(CYP1B1):c.1311G>A (p.Pro437=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2843498	NM_000104.4(CYP1B1):c.1400_1411del (p.Lys467_Cys470del)	CYP1B1, LOC128772254	Deletion (inframe_deletion)	Congenital glaucoma	GPathogenic
Select item 2843195	NM_000104.4(CYP1B1):c.1380G>A (p.Val460=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2836332	NM_000104.4(CYP1B1):c.1308C>T (p.Asn436=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2799341	NM_000104.4(CYP1B1):c.1353C>T (p.Leu451=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2790834	NM_000104.4(CYP1B1):c.1291C>T (p.Pro431Ser)	CYP1B1, LOC128772254 (P431S)	Single nucleotide variant (missense variant)	Congenital glaucoma	GUncertain significance
Select item 2762312	NM_000104.4(CYP1B1):c.1389T>C (p.Phe463=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2734162	NM_000104.4(CYP1B1):c.1377_1378del (p.Arg459fs)	CYP1B1, LOC128772254 (R459fs)	Microsatellite (frameshift variant)	Congenital glaucoma	GPathogenic
Select item 2722631	NM_000104.4(CYP1B1):c.1338G>A (p.Leu446=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2720250	NM_000104.4(CYP1B1):c.1425_1428del (p.Ser476fs)	CYP1B1, LOC128772254 (S476fs)	Deletion (frameshift variant)	Congenital glaucoma	GPathogenic
Select item 2708243	NM_000104.4(CYP1B1):c.1413del (p.Ile471fs)	CYP1B1, LOC128772254 (I471fs)	Deletion (frameshift variant)	Congenital glaucoma	GPathogenic
Select item 2681140	NM_000104.4(CYP1B1):c.1111dup (p.Cys371fs)	CYP1B1 (C371fs)	Duplication (frameshift variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681139	NM_000104.4(CYP1B1):c.1023G>A (p.Trp341Ter)	CYP1B1 (W341*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6	GPathogenic
Select item 2681136	NM_000104.4(CYP1B1):c.994C>T (p.Gln332Ter)	CYP1B1 (Q332*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681134	NM_000104.4(CYP1B1):c.794dup (p.Asn265fs)	CYP1B1 (N265fs)	Duplication (frameshift variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681132	NM_000104.4(CYP1B1):c.58C>T (p.Gln20Ter)	CYP1B1 (Q20*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681131	NM_000104.4(CYP1B1):c.490C>T (p.Gln164Ter)	CYP1B1 (Q164*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681128	NM_000104.4(CYP1B1):c.170G>A (p.Trp57Ter)	CYP1B1 (W57*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681127	NM_000104.4(CYP1B1):c.1027CTC[2] (p.Leu345del)	CYP1B1 (L345del)	Microsatellite (inframe deletion)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681126	NM_000104.4(CYP1B1):c.158del (p.Gly53fs)	CYP1B1 (G53fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681125	NM_000104.4(CYP1B1):c.1075G>T (p.Glu359Ter)	CYP1B1 (E359*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2681122	NM_000104.4(CYP1B1):c.256C>T (p.Gln86Ter)	CYP1B1 (Q86*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 2616422	NM_000104.4(CYP1B1):c.1429A>G (p.Lys477Glu)	CYP1B1, LOC128772254 (K477E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604653	NM_000104.4(CYP1B1):c.1345G>A (p.Asp449Asn)	CYP1B1, LOC128772254 (D449N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550095	NM_000104.4(CYP1B1):c.1306A>C (p.Asn436His)	CYP1B1, LOC128772254 (N436H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439630	NM_000104.4(CYP1B1):c.859del (p.Ala287fs)	CYP1B1 (A287fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2429121	NM_000104.4(CYP1B1):c.1309C>G (p.Pro437Ala)	CYP1B1, LOC128772254 (P437A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1396219	NM_000104.4(CYP1B1):c.1421A>C (p.Glu474Ala)	CYP1B1, LOC128772254 (E474A)	Single nucleotide variant (missense variant)	Congenital glaucoma	GUncertain significance
Select item 1324202	NM_000104.4(CYP1B1):c.1390dup (p.Ser464fs)	CYP1B1, LOC128772254 (S464fs)	Duplication (frameshift variant)	Congenital glaucoma +2 more	GPathogenic/Likely pathogenic
Select item 1322184	NM_000104.4(CYP1B1):c.517G>T (p.Glu173Ter)	CYP1B1 (E173*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6 +3 more	GPathogenic
Select item 1254629	NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu)	CYP1B1, LOC128772254 (P437L)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +2 more	GPathogenic/Likely pathogenic
Select item 1065602	NM_000104.4(CYP1B1):c.1081G>T (p.Asp361Tyr)	CYP1B1 (D361Y)	Single nucleotide variant (missense variant)	Glaucoma 3A	GLikely pathogenic
Select item 996795	NM_000104.4(CYP1B1):c.1426T>C (p.Ser476Pro)	CYP1B1, LOC128772254 (S476P)	Single nucleotide variant (missense variant)	Congenital glaucoma +1 more	GConflicting classifications of pathogenicity
Select item 897128	NM_000104.4(CYP1B1):c.1319T>G (p.Phe440Cys)	CYP1B1, LOC128772254 (F440C)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 897127	NM_000104.4(CYP1B1):c.1345G>T (p.Asp449Tyr)	CYP1B1, LOC128772254 (D449Y)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 845455	NM_000104.4(CYP1B1):c.1331G>A (p.Arg444Gln)	CYP1B1, LOC128772254 (R444Q)	Single nucleotide variant (missense variant)	Congenital glaucoma +2 more	GPathogenic
Select item 772690	NM_000104.4(CYP1B1):c.1392A>T (p.Ser464=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GBenign
Select item 758689	NM_000104.4(CYP1B1):c.1344G>A (p.Lys448=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 523782	NM_000104.4(CYP1B1):c.1330C>T (p.Arg444Ter)	LOC128772254, CYP1B1 (R444*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6 +3 more	GPathogenic
Select item 456640	NM_000104.4(CYP1B1):c.1412T>A (p.Ile471Asn)	CYP1B1, LOC128772254 (I471N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 456639	NM_000104.4(CYP1B1):c.1345del (p.Asp449fs)	CYP1B1, LOC128772254 (D449fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 6 +1 more	GPathogenic
Select item 456638	NM_000104.4(CYP1B1):c.1302G>A (p.Trp434Ter)	CYP1B1, LOC128772254 (W434*)	Single nucleotide variant (nonsense)	Congenital glaucoma	GPathogenic
Select item 456637	NM_000104.4(CYP1B1):c.1294C>G (p.Leu432Val)	CYP1B1, LOC128772254 (L432V)	Single nucleotide variant (missense variant)	Congenital glaucoma +1 more	GBenign
Select item 335962	NM_000104.4(CYP1B1):c.-360G>C	CYP1B1, LOC110599580	Single nucleotide variant (5 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335950	NM_000104.4(CYP1B1):c.1406G>A (p.Arg469Gln)	CYP1B1, LOC128772254 (R469Q)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 255128	NM_000104.4(CYP1B1):c.-14C>T	CYP1B1	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 196208	NM_000104.4(CYP1B1):c.1290C>G (p.Asp430Glu)	CYP1B1, LOC128772254 (D430E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 166971	NM_000104.4(CYP1B1):c.1294= (p.Leu432=)	CYP1B1, LOC128772254	Single nucleotide variant (no sequence alteration)	Congenital glaucoma +4 more	GBenign/Likely benign
Select item 166970	NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 6 +5 more	GBenign
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 96701	NM_000104.4(CYP1B1):c.626_627del (p.Cys209fs)	CYP1B1 (C209fs)	Microsatellite (frameshift variant)	Glaucoma 3A	Gnot provided
Select item 96699	NM_000104.4(CYP1B1):c.1409G>A (p.Cys470Tyr)	CYP1B1, LOC128772254 (C470Y)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 92435	NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly)	CYP1B1, LOC128772254 (A443G)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 7733	NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp)	CYP1B1, LOC128772254 (R469W)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +4 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 63