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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP2A2, LOC126861637
(P602A)
Single nucleotide variant
(missense variant)
Keratosis follicularis
GUncertain significance
ATP2A2, LOC126861637
Single nucleotide variant
(synonymous variant)
Keratosis follicularis
GUncertain significance
ATP2A2, LOC126861637
(I638V)
Single nucleotide variant
(missense variant)
Keratosis follicularis
GBenign
ATP2A2, LOC126861637
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
ATP2A2, LOC126861637
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ATP2A2, LOC126861637
(V687I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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