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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG5
(L210del +1 more)
Microsatellite
(inframe_deletion)
Polycystic kidney disease 7
GUncertain significance
ALG5
(Q205H +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 7
GUncertain significance
ALG5
(W194* +1 more)
Single nucleotide variant
(nonsense)
Polycystic kidney disease 7
GLikely pathogenic
ALG5
Single nucleotide variant
(splice acceptor variant)
Polycystic kidney disease 7
GLikely pathogenic
ALG5
(R39*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease 7
GLikely pathogenic
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