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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LURAP1L-AS1, TYRP1
(N353fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
LURAP1L-AS1, TYRP1
(R356Q)
Single nucleotide variant
(missense variant)
TYRP1-related disorder
+3 more
GConflicting classifications of pathogenicity
TYRP1, LURAP1L-AS1
(G361A)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism type 3
+2 more
GUncertain significance
LURAP1L-AS1, TYRP1
(K368fs)
Deletion
(frameshift variant)
Oculocutaneous albinism type 3
+2 more
GPathogenic/Likely pathogenic
LURAP1L-AS1, TYRP1
(R471W)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism type 3
+3 more
GUncertain significance
LURAP1L-AS1, TYRP1
(Y519*)
Single nucleotide variant
(nonsense)
not specified
+3 more
GBenign/Likely benign
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