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Items: 87

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PKD1
(V4146I +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
+3 more
GBenign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
+3 more
GBenign/Likely benign
PKD1
(C3905F +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
PKD1, PKD1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
PKD1-related disorder
+1 more
GLikely benign
PKD1, PKD1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GBenign/Likely benign
PKD1, PKD1-AS1
Duplication
not specified
+2 more
GBenign/Likely benign
PKD1, PKD1-AS1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
+3 more
GBenign/Likely benign
PKD1-AS1, PKD1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PKD1, PKD1-AS1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
+2 more
GBenign/Likely benign
PKD1, PKD1-AS1
(A3551S +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
+2 more
GBenign/Likely benign
PKD1, PKD1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PKD1
(A3466V +1 more)
Single nucleotide variant
(missense variant)
PKD1-related disorder
GBenign
PKD1
(A3442V +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PKD1
(V3409L +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
+2 more
GBenign
PKD1
Single nucleotide variant
(intron variant)
Polycystic kidney disease, adult type
GLikely benign
PKD1
Single nucleotide variant
(intron variant)
PKD1-related disorder
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PKD1
(V3008M)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GBenign/Likely benign
MIR6511B1, PKD1
(F2979del)
Microsatellite
(inframe_deletion)
not provided
+2 more
GLikely pathogenic
PKD1
(V2905I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PKD1
(V2897I)
Single nucleotide variant
(missense variant)
PKD1-related disorder
+1 more
GLikely benign
PKD1
(G2814R)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
+3 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
+3 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PKD1
(Q2735L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PKD1
(P2734T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PKD1
(T2708M)
Single nucleotide variant
(missense variant)
PKD1-related disorder
+3 more
GBenign/Likely benign
PKD1
(A2704V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
+2 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
+3 more
GBenign
PKD1
(P2674S)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
+2 more
GBenign/Likely benign
PKD1
(H2546Y)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
PKD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PKD1
(Q2519*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PKD1
(R2516C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
PKD1
(R2477C)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PKD1
(K2374*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PKD1
Single nucleotide variant
(intron variant)
Polycystic kidney disease
+1 more
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
PKD1-related disorder
GLikely benign
PKD1
(T2250M)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
+2 more
GConflicting classifications of pathogenicity
PKD1
(A2222V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
PKD1
(R2200C)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
+4 more
GBenign/Likely benign
PKD1
(R2163Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
PKD1
(E2111K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
+2 more
GBenign/Likely benign
PKD1
(P1928R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
PKD1
(W1874*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PKD1
(A1871T)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
+2 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PKD1
(T1773I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
+2 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
PKD1
(V1553del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
PKD1
(A1516T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
+1 more
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PKD1
(R1492P)
Single nucleotide variant
(missense variant)
PKD1-related disorder
GUncertain significance
PKD1
(W1399R)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
+3 more
GBenign
PKD1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PKD1
(R1340W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PKD1
(F1146del)
Deletion
(inframe_deletion)
not provided
+1 more
GUncertain significance
PKD1
(V1144I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
GLikely benign
PKD1
(L1106V)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
+2 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(intron variant)
Polycystic kidney disease, adult type
+2 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(intron variant)
Polycystic kidney disease, adult type
+2 more
GBenign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
+3 more
GBenign
PKD1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PKD1
(R739Q)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GBenign
PKD1
(P731L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
+1 more
GBenign/Likely benign
PKD1
(Y680F)
Single nucleotide variant
(missense variant)
not specified
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PKD1
(A401V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PKD1
(A194T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
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