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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYRP1
(R146W)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism type 3
+1 more
GUncertain significance
TYRP1
(R153C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LURAP1L-AS1, TYRP1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LURAP1L-AS1, TYRP1
(N353fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
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