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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYR
(G47D)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+6 more
GPathogenic/Likely pathogenic
TYR
(K131del)
Deletion
(inframe_deletion)
Oculocutaneous albinism type 1B
+2 more
GConflicting classifications of pathogenicity
TYR
Single nucleotide variant
(intron variant)
See cases
+10 more
GPathogenic/Likely pathogenic
TYR
Single nucleotide variant
(splice acceptor variant)
Tyrosinase-negative oculocutaneous albinism
+3 more
GPathogenic
TYR
(P406L)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+8 more
GPathogenic/Likely pathogenic
TYR
(A486fs)
Deletion
(frameshift variant)
Tyrosinase-negative oculocutaneous albinism
GPathogenic
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