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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP4V2, LOC129993526
(L22V)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign
CYP4V2
(W44R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP4V2
(G61S)
Single nucleotide variant
(missense variant)
Bietti crystalline corneoretinal dystrophy
GPathogenic
CYP4V2
(E79D)
Single nucleotide variant
(missense variant)
Corneal dystrophy
+3 more
GConflicting classifications of pathogenicity
CYP4V2
(R85C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CYP4V2
(G95R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
CYP4V2
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
CYP4V2
(I111T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
CYP4V2
(L112*)
Single nucleotide variant
(nonsense)
Bietti crystalline corneoretinal dystrophy
GPathogenic
CYP4V2
(M123V)
Single nucleotide variant
(missense variant)
Corneal dystrophy
+3 more
GConflicting classifications of pathogenicity
CYP4V2
(G134*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CYP4V2
(L173W)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
CYP4V2
(Y219H)
Single nucleotide variant
(missense variant)
Bietti crystalline corneoretinal dystrophy
GPathogenic
CYP4V2
(H254fs)
Duplication
(frameshift variant)
Bietti crystalline corneoretinal dystrophy
GPathogenic
CYP4V2
(H254R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP4V2
Indel
Corneal Dystrophy, Recessive
+3 more
GConflicting classifications of pathogenicity
CYP4V2
(R320*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
+1 more
GPathogenic
CYP4V2
(D324V)
Single nucleotide variant
(missense variant)
Bietti crystalline corneoretinal dystrophy
GPathogenic
CYP4V2
(T325I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP4V2
(H331P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
CYP4V2
(W340*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+1 more
GPathogenic
CYP4V2
(S341P)
Single nucleotide variant
(missense variant)
Bietti crystalline corneoretinal dystrophy
GPathogenic
CYP4V2
Single nucleotide variant
(splice acceptor variant)
Bietti crystalline corneoretinal dystrophy
+2 more
GPathogenic/Likely pathogenic
CYP4V2
(K386T)
Single nucleotide variant
(missense variant)
Bietti crystalline corneoretinal dystrophy
GPathogenic
CYP4V2
(R390H)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CYP4V2
(P396L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP4V2
(R400C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP4V2
(R400H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP4V2
Deletion
(splice acceptor variant)
Bietti crystalline corneoretinal dystrophy
GPathogenic
CYP4V2
(Q450*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CYP4V2
(S482*)
Single nucleotide variant
(nonsense)
Bietti crystalline corneoretinal dystrophy
GPathogenic
CYP4V2
(R508H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP4V2
(P509L)
Single nucleotide variant
(missense variant)
Bietti crystalline corneoretinal dystrophy
GPathogenic
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