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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP1B1
Single nucleotide variant
(synonymous variant)
Congenital glaucoma
+4 more
GConflicting classifications of pathogenicity
LOC128772254, CYP1B1
(N453S)
Single nucleotide variant
(missense variant)
Anterior segment dysgenesis 6
+5 more
GBenign/Likely benign
LOC128772254, CYP1B1
Single nucleotide variant
(synonymous variant)
Congenital glaucoma
+5 more
GBenign
CYP1B1, LOC128772254
(A443G)
Single nucleotide variant
(missense variant)
Congenital glaucoma
+4 more
GBenign/Likely benign
CYP1B1, LOC128772254
Single nucleotide variant
(no sequence alteration)
Congenital glaucoma
+4 more
GBenign/Likely benign
CYP1B1, LOC128772254
(D430E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP1B1
(T404fs)
Duplication
(frameshift variant)
Congenital glaucoma
+5 more
GPathogenic
CYP1B1
(R390H)
Single nucleotide variant
(missense variant)
Congenital glaucoma
+4 more
GPathogenic/Likely pathogenic
CYP1B1
(E387K)
Single nucleotide variant
(missense variant)
Congenital glaucoma
+6 more
GPathogenic/Likely pathogenic
CYP1B1
(R368H)
Single nucleotide variant
(missense variant)
CYP1B1-related condition
+7 more
GConflicting classifications of pathogenicity
CYP1B1
(R355fs)
Deletion
(frameshift variant)
CYP1B1-related condition
+5 more
GPathogenic
CYP1B1
(V320L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
CYP1B1
(R290fs)
Duplication
(frameshift variant)
Congenital glaucoma
+5 more
GPathogenic
CYP1B1
Single nucleotide variant
(synonymous variant)
Congenital glaucoma
+4 more
GBenign
CYP1B1
(E229K)
Single nucleotide variant
(missense variant)
Irido-corneo-trabecular dysgenesis
+4 more
GConflicting classifications of pathogenicity; other
CYP1B1
Single nucleotide variant
(synonymous variant)
Congenital glaucoma
+4 more
GBenign
CYP1B1
(E139K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP1B1
(A119S)
Single nucleotide variant
(missense variant)
Congenital glaucoma
+5 more
GBenign/Likely benign
CYP1B1
(Y81N)
Single nucleotide variant
(missense variant)
Congenital glaucoma
+5 more
GConflicting classifications of pathogenicity
CYP1B1
(P52L)
Single nucleotide variant
(missense variant)
Irido-corneo-trabecular dysgenesis
+3 more
GUncertain significance
CYP1B1
(R48G)
Single nucleotide variant
(missense variant)
Congenital glaucoma
+4 more
GBenign/Likely benign
CYP1B1
Single nucleotide variant
(synonymous variant)
Congenital glaucoma
+1 more
GConflicting classifications of pathogenicity
CYP1B1
Single nucleotide variant
(synonymous variant)
Congenital glaucoma
+1 more
GConflicting classifications of pathogenicity
CYP1B1
Single nucleotide variant
(synonymous variant)
Congenital glaucoma
+1 more
GConflicting classifications of pathogenicity
CYP1B1
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 6
+4 more
GBenign
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