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Links from MedGen

Items: 1 to 100 of 755

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKD1
(W1399*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease
GLikely pathogenic
PKD1
(M2764T +2 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GLikely pathogenic
PKHD1
(G3178C)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+1 more
GLikely pathogenic
COL4A4
(G795R)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
GPathogenic
PKHD1
(R2831G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PKHD1
(D1944G)
Single nucleotide variant
(missense variant)
Hypoplastic aortic arch
+1 more
GUncertain significance
PKHD1
Single nucleotide variant
(splice acceptor variant)
Hypoplastic aortic arch
+1 more
GPathogenic
DNAJB11
(R24*)
Single nucleotide variant
(nonsense +1 more)
Polycystic kidney disease
+1 more
GPathogenic
PKD1
(W1243*)
Single nucleotide variant
(nonsense)
Autosomal dominant polycystic kidney disease
+1 more
GPathogenic
PKD1
(W750*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease
GPathogenic
PKD1
(E4219* +1 more)
Single nucleotide variant
(nonsense)
Polycystic kidney disease
GPathogenic
PKD2
(Q555*)
Single nucleotide variant
(nonsense +1 more)
Polycystic kidney disease
GPathogenic
PKD1
(W1837*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease, adult type
+1 more
GPathogenic
PKD2
(K215fs)
Microsatellite
(frameshift variant +1 more)
Polycystic kidney disease
GPathogenic
PKD1, PKD1-AS1
(A3771fs +1 more)
Insertion
(frameshift variant)
Polycystic kidney disease
GPathogenic
PKD1, PKD1-AS1
(W3725* +1 more)
Single nucleotide variant
(nonsense)
Polycystic kidney disease
GPathogenic
PKD1
(E1741*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease
GPathogenic
PKD1
(W2187*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease
GPathogenic
PKD1
(W3927* +1 more)
Single nucleotide variant
(nonsense)
Polycystic kidney disease
GPathogenic
PKD1
(A432T)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GLikely pathogenic
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease
GLikely benign
PKD1
(R2191H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PKD1
Deletion
(intron variant)
Polycystic kidney disease
GUncertain significance
PKD1
(T1768fs)
Deletion
(frameshift variant)
Polycystic kidney disease
GPathogenic
PKD1
(S2675fs)
Deletion
(frameshift variant)
Polycystic kidney disease
GLikely pathogenic
PKD1
(L464fs)
Deletion
(frameshift variant)
Polycystic kidney disease
GPathogenic
PKD1, PKD1-AS1
(W3552G +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
GUncertain significance
PKD1
(I2719T)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
GUncertain significance
PKD1
Single nucleotide variant
(intron variant)
Polycystic kidney disease
GUncertain significance
PKD1
(V1027G)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
GUncertain significance
PKD1
(F1766C)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
GUncertain significance
PKD2
(L288fs)
Insertion
(frameshift variant +1 more)
Polycystic kidney disease
GPathogenic
PKD1
(K972*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease
GPathogenic
PKD1
Single nucleotide variant
(synonymous variant)
PKD1-related condition
GLikely benign
PKD1
Single nucleotide variant
(splice donor variant)
Polycystic kidney disease, adult type
GLikely pathogenic
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease
GLikely benign
PKD1
(T2706fs)
Deletion
(frameshift variant)
Polycystic kidney disease
GPathogenic
PKD1
(P2108fs)
Indel
(frameshift variant)
Polycystic kidney disease
GPathogenic
PKD1
(W3195fs)
Deletion
(frameshift variant)
Polycystic kidney disease
GPathogenic
PKD1
(A1426fs)
Indel
(frameshift variant)
Polycystic kidney disease
GPathogenic
PKD1
(A1201fs)
Deletion
(frameshift variant)
Polycystic kidney disease
GPathogenic
PKD1
(A4002fs +1 more)
Deletion
(frameshift variant)
Polycystic kidney disease
GPathogenic
PKD1
(A1926fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(L2584fs)
Deletion
(frameshift variant)
Polycystic kidney disease
GPathogenic
PKD1
(S961L)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
GUncertain significance
PKD1
(L2276V)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
GUncertain significance
PKD1
Single nucleotide variant
(synonymous variant)
PKD1-related condition
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease
GUncertain significance
PKD1, PKD1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Polycystic kidney disease
GUncertain significance
PKD1
Single nucleotide variant
(intron variant)
Polycystic kidney disease
GUncertain significance
PKD1
Single nucleotide variant
(synonymous variant)
PKD1-related condition
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease
GUncertain significance
PKD1
(L811V)
Single nucleotide variant
(missense variant)
PKD1-related condition
GLikely benign
LOC129992813, PKD2
(G196R)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease
GUncertain significance
PKD1
(R3951fs +1 more)
Duplication
(frameshift variant)
Polycystic kidney disease
GPathogenic
PKD1
(C37*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
PKD1-related condition
GLikely benign
PKD1
(H201Q)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
+2 more
GLikely benign
PKD1, PKD1-AS1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
+1 more
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease
GLikely benign
PKD1
Single nucleotide variant
(5 prime UTR variant)
PKD1-related condition
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
GLikely benign
PKD1
(V926fs)
Deletion
(frameshift variant)
Polycystic kidney disease
GPathogenic
PKD2
(T663fs)
Deletion
(frameshift variant)
Polycystic kidney disease
GPathogenic
PKD1
(N2770del)
Deletion
(inframe_deletion)
Polycystic kidney disease
GUncertain significance
PKD1
(F1683fs)
Deletion
(frameshift variant)
Polycystic kidney disease
GPathogenic
PKD1
(R1935fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PKD2
Single nucleotide variant
(intron variant)
Polycystic kidney disease
GUncertain significance
PKD1
(R606P)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
GUncertain significance
PKD1
(R2147Q)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
GUncertain significance
PKD1
(G4260S +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
GUncertain significance
PKD1, PKD1-AS1
(V3575M +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
GUncertain significance
PKD1, PKD1-AS1
(R3547H +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
GUncertain significance
PKD1
(G3988S +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
+2 more
GConflicting classifications of pathogenicity
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease
GLikely benign
PKD1
(T2873I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKD1
(R304C)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GLikely benign
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
+1 more
GLikely benign
PKD1
Single nucleotide variant
(5 prime UTR variant)
Polycystic kidney disease
GBenign
PKD1
Single nucleotide variant
(5 prime UTR variant)
Polycystic kidney disease
GBenign
PKD1, PKD1-AS1
(A3577fs +1 more)
Deletion
(frameshift variant)
Polycystic kidney disease
GPathogenic
PKD1
(R869fs)
Deletion
(frameshift variant)
Polycystic kidney disease
GPathogenic
LOC129992813, PKD2
(G51fs)
Deletion
(frameshift variant +1 more)
Autosomal dominant polycystic kidney disease
GPathogenic
PKD1-AS1, PKD1
Indel
(non-coding transcript variant +1 more)
Polycystic kidney disease
GLikely benign
PKD1
(V2658fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
PKD1
(A998P)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
GUncertain significance
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease
GUncertain significance
PKD1
(G2919R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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