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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC45A2
(R451H)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism type 4
+2 more
GUncertain significance
SLC45A2
(Y384*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
SLC45A2
(L374F)
Single nucleotide variant
(missense variant +1 more)
Skin/hair/eye pigmentation, variation in, 5
+3 more
GBenign
SLC45A2
(L361P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
SLC45A2
(Q344H +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SLC45A2
(T339I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC45A2
(S221G)
Single nucleotide variant
(synonymous variant +1 more)
Skin/hair/eye pigmentation, variation in, 5
+3 more
GBenign
SLC45A2
(D220fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
SLC45A2
(Q286*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
SLC45A2
(Y278*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic/Likely pathogenic
SLC45A2
(L207V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC45A2
(W202C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
SLC45A2
(G89fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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