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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKAA1
(P511L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKAA1
(S504F +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKAA1
(S521R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKAA1
(S468L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKAA1
(A226G +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKAA1
(E336K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKAA1
(I219S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKAA1
(P450T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKAA1
(K171R +4 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PRKAA1
(R272Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKAA1
(H243R +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKAA1
(L362V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKAA1
(S330N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKAA1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PRKAA1
(I299T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKAA1
(Y150C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKAA1
(P260L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PRKAA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PRKAA1
(L109V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PRKAA1
(G132C)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
PRKAA1
(H18P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
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