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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OCA2
(A763T +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+3 more
GConflicting classifications of pathogenicity
OCA2
(T426M +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
OCA2
(S59fs)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
MC1R
(A171G)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
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