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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYRP1
(R93H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TYRP1
(E139K)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TYRP1
(T262M)
Single nucleotide variant
(missense variant)
TYRP1-related condition
+2 more
GConflicting classifications of pathogenicity
LURAP1L-AS1, TYRP1
(R326H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
LURAP1L-AS1, TYRP1
(K368fs)
Deletion
(frameshift variant)
Skin/hair/eye pigmentation, variation in, 11
+2 more
GPathogenic/Likely pathogenic
LURAP1L-AS1, TYRP1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LURAP1L-AS1, TYRP1
Single nucleotide variant
(synonymous variant)
Oculocutaneous albinism type 3
+2 more
GBenign/Likely benign
LURAP1L-AS1, TYRP1
(R505C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1, LURAP1L-AS1
(Y519*)
Single nucleotide variant
(nonsense)
Oculocutaneous albinism type 3
+3 more
GBenign/Likely benign
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