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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALPK3
(R255Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ALPK3
(Y497C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign
ALPK3
(G663D +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
ALPK3
(M563T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
(G1017E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ALPK3
(A1873V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
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