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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CD19
(P57L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CD19
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CD19
(R123W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD19
Single nucleotide variant
(synonymous variant +1 more)
CD19-related condition
+2 more
GBenign/Likely benign
CD19
(A191T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CD19
(A390V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CD19
(S425F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CD19
(S391R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CD19
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CD19
(D538N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ATP2A1, ATXN2L
+7 more
Copy number gain
not provided
GLikely benign
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