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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLA1
(G113V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
POLA1
(S777F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
POLA1
(R894I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLA1
(T1218M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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