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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYR
(C55Y)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+5 more
GPathogenic
TYR
(R77W)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+2 more
GPathogenic
TYR
(C89R)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+9 more
GPathogenic
TYR
(M96fs)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TYR
(M332I)
Single nucleotide variant
(missense variant)
Abnormality of the skin
+3 more
GPathogenic/Likely pathogenic
TYR
(G346*)
Single nucleotide variant
(nonsense)
Oculocutaneous albinism type 1
+3 more
GPathogenic/Likely pathogenic
TYR
Single nucleotide variant
(intron variant)
See cases
+10 more
GPathogenic/Likely pathogenic
TYR
(A355P)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TYR
(T373K)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+5 more
GPathogenic
TYR
(P406L)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+8 more
GPathogenic/Likely pathogenic
TYR
(R422W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TYR
(Y451C)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+10 more
GPathogenic/Likely pathogenic
TYR
(A490fs)
Duplication
(frameshift variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+3 more
GPathogenic/Likely pathogenic
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