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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKD1
(P4159L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PKD1
(A3914fs +1 more)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GLikely pathogenic
PKD1, PKD1-AS1
(L3822fs +1 more)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GLikely pathogenic
PKD1, PKD1-AS1
(D3690fs +1 more)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(T3172fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GLikely pathogenic
PKD1
Duplication
(inframe_insertion)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(N2167D)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
+1 more
GUncertain significance
PKD1
(W1752R)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(V1544M)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
Single nucleotide variant
(splice acceptor variant)
Polycystic kidney disease, adult type
GLikely pathogenic
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