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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTN1
(A795T +22 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ACTN1
(R752Q)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 15
+1 more
GConflicting classifications of pathogenicity
ACTN1
(H386R +10 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN1
(G194R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ACTN1
(S108C +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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