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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYR
(R77Q)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+5 more
GPathogenic
TYR
(P81L)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism
+7 more
GPathogenic
TYR
(T113fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
TYR
(D169del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
TYR
Single nucleotide variant
(synonymous variant)
TYR-related condition
+3 more
GConflicting classifications of pathogenicity
TYR
(S192Y)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism
+3 more
GConflicting classifications of pathogenicity
TYR
(Q220*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
TYR
(I222T)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism
+3 more
GConflicting classifications of pathogenicity
TYR
Microsatellite
(nonsense)
not provided
+2 more
GPathogenic
TYR
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
TYR
(V275F)
Single nucleotide variant
(missense variant)
TYR-related condition
+5 more
GPathogenic/Likely pathogenic
TYR
(R278*)
Single nucleotide variant
(nonsense)
TYR-related condition
+6 more
GPathogenic
TYR
(R299H)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+5 more
GPathogenic
TYR
Duplication
(intron variant)
not provided
GConflicting classifications of pathogenicity
TYR
Single nucleotide variant
(intron variant)
Oculocutaneous albinism type 1B
+10 more
GPathogenic/Likely pathogenic
TYR
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
TYR
(D356V)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+3 more
GUncertain significance
TYR
(T373K)
Single nucleotide variant
(missense variant)
TYR-related condition
+6 more
GPathogenic
TYR
(G379A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYR
(D383N)
Single nucleotide variant
(missense variant)
TYR-related condition
+7 more
GPathogenic
TYR
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TYR
(R402*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
TYR
(R402Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity; other
TYR
(P406L)
Single nucleotide variant
(missense variant)
TYR-related condition
+8 more
GPathogenic/Likely pathogenic
TYR
(P412A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TYR
(G446S)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+5 more
GPathogenic
TYR
(K465*)
Duplication
(nonsense)
Oculocutaneous albinism type 1B
+3 more
GLikely pathogenic
TYR
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TYR
(W475fs)
Deletion
(frameshift variant)
TYR-related condition
+1 more
GPathogenic/Likely pathogenic
TYR
Single nucleotide variant
(synonymous variant)
Oculocutaneous albinism
+2 more
GUncertain significance
TYR
(A490fs)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
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