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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC45A2
(L524F)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism type 4
+2 more
GUncertain significance
SLC45A2
(P442L)
Single nucleotide variant
(missense variant)
Skin/hair/eye pigmentation, variation in, 5
+3 more
GConflicting classifications of pathogenicity
SLC45A2
(L374F)
Single nucleotide variant
(missense variant +1 more)
Skin/hair/eye pigmentation, variation in, 5
+3 more
GBenign
SLC45A2
(P239L +1 more)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism type 4
+2 more
GUncertain significance
SLC45A2
(S221G)
Single nucleotide variant
(synonymous variant +1 more)
Skin/hair/eye pigmentation, variation in, 5
+3 more
GBenign
SLC45A2
(P211T +1 more)
Single nucleotide variant
(missense variant +1 more)
Skin/hair/eye pigmentation, variation in, 5
+2 more
GPathogenic
SLC45A2
(M265L)
Single nucleotide variant
(missense variant +1 more)
Oculocutaneous albinism type 4
+2 more
GUncertain significance
SLC45A2
(R101C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SLC45A2
(S92G)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism type 4
+3 more
GConflicting classifications of pathogenicity
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