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Links from MedGen

Items: 1 to 100 of 348

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKD2
(D373fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GLikely pathogenic
PKD2
(I571fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(V406fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(G388fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(N328fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(L337*)
Single nucleotide variant
(nonsense +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(G390A)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 2
GUncertain significance
LOC129992813, PKD2
(W118fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(R845fs)
Duplication
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(I478F)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 2
GUncertain significance
PKD2
(D819fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(I232fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(W366R)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 2
GUncertain significance
PKD2
Single nucleotide variant
(splice donor variant)
Polycystic kidney disease 2
GPathogenic
PKD2
(K688*)
Single nucleotide variant
(nonsense +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
Single nucleotide variant
(intron variant)
Polycystic kidney disease 2
GUncertain significance
PKD2
(N645fs)
Deletion
(frameshift variant)
Polycystic kidney disease 2
GPathogenic
PKD2
(R798fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(F568fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(Y465*)
Single nucleotide variant
(nonsense +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
Single nucleotide variant
(splice donor variant)
Polycystic kidney disease 2
GUncertain significance
PKD2
Single nucleotide variant
(splice donor variant)
Polycystic kidney disease 2
GUncertain significance
PKD2
(K784fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GLikely pathogenic
LOC129992813, PKD2
Duplication
(nonsense +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(C344L)
Indel
(missense variant +1 more)
Polycystic kidney disease 2
GUncertain significance
PKD2
(E549fs)
Duplication
(frameshift variant +1 more)
Polycystic kidney disease 2
GLikely pathogenic
LOC129992813, PKD2
(E106fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(F598fs)
Indel
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
Single nucleotide variant
(splice donor variant)
Polycystic kidney disease 2
GPathogenic
PKD2
(T635S)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 2
GUncertain significance
PKD2
(L395F)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 2
GUncertain significance
PKD2
(Q938fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(Y684*)
Duplication
(nonsense +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(S377R)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 2
GUncertain significance
PKD2
Duplication
(inframe_insertion +1 more)
Polycystic kidney disease 2
GLikely pathogenic
PKD2
Deletion
(splice acceptor variant)
Polycystic kidney disease 2
GPathogenic
PKD2
(L672V)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 2
GUncertain significance
PKD2
Single nucleotide variant
(splice acceptor variant)
Polycystic kidney disease 2
GLikely pathogenic
PKD2
(E343fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GLikely pathogenic
PKD2
(D815G)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 2
GUncertain significance
PKD2
Deletion
(inframe_indel +1 more)
Polycystic kidney disease 2
GUncertain significance
PKD2
(E727fs)
Duplication
(frameshift variant +1 more)
Polycystic kidney disease 2
GLikely pathogenic
LOC129992813, PKD2
(S129W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
PKD2
(Q622*)
Single nucleotide variant
(nonsense +1 more)
Autosomal dominant polycystic kidney disease
+2 more
GConflicting classifications of pathogenicity
PKD2
Deletion
Polycystic kidney disease 2
GLikely pathogenic
PKD2
Single nucleotide variant
(splice donor variant)
Polycystic kidney disease 2
GUncertain significance
PKD2
(A303G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
PKD2
(L597R)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 2
GUncertain significance
PKD2
(R827del)
Deletion
(inframe_deletion +1 more)
Polycystic kidney disease 2
GUncertain significance
PKD2
(Y684fs)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
PKD2
(L231fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GLikely pathogenic
PKD2
(S701*)
Single nucleotide variant
(nonsense +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(Y684*)
Single nucleotide variant
(nonsense +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
Deletion
(splice donor variant)
Polycystic kidney disease 2
GLikely pathogenic
PKD2
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
FAM13A, PKD2
Deletion
Polycystic kidney disease 2
GPathogenic
PKD2
(Q840fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(R654*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease 2
+2 more
GPathogenic
PKD2
(E400fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Polycystic kidney disease 2
+1 more
GLikely benign
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GLikely benign
PKD2
Single nucleotide variant
(intron variant)
Autosomal dominant polycystic kidney disease
+1 more
GLikely benign
PKD2
(R910C)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GUncertain significance
PKD2
(I925F)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GUncertain significance
PKD2
(D919N)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GUncertain significance
PKD2
(E772K)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GUncertain significance
PKD2
(L656W)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 2
+1 more
GUncertain significance
LOC129992813, PKD2
(L79F)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GUncertain significance
PKD2
(Y465C)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 2
+2 more
GUncertain significance
PKD2
(E214*)
Single nucleotide variant
(nonsense +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GPathogenic
LOC129992813, PKD2
(R84Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GUncertain significance
PKD2
(D810N)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GUncertain significance
PKD2
(I644T)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 2
+1 more
GUncertain significance
PKD2
(A862V)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 2
+1 more
GUncertain significance
PKD2
(S831P)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GUncertain significance
PKD2
(A552P)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 2
+1 more
GUncertain significance
PKD2
(D259A)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GUncertain significance
PKD2
(G734S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GUncertain significance
LOC129992813, PKD2
(D14fs)
Deletion
(frameshift variant +1 more)
PKD2-related disorder
+1 more
GConflicting classifications of pathogenicity
PKD2
Single nucleotide variant
(intron variant)
Polycystic kidney disease 2
GUncertain significance
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Polycystic kidney disease 2
+3 more
GBenign/Likely benign
PKD2
Single nucleotide variant
(intron variant)
Polycystic kidney disease 2
GUncertain significance
LOC129992813, PKD2
(P162L)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 2
+2 more
GUncertain significance
PKD2
(R306G)
Single nucleotide variant
(missense variant +1 more)
Multiple renal cysts
+2 more
GUncertain significance
PKD2
(T635P)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 2
GUncertain significance
PKD2
(Y660fs)
Microsatellite
(frameshift variant)
Polycystic kidney disease 2
GPathogenic
PKD2
(V262fs)
Duplication
(frameshift variant +1 more)
Autosomal dominant polycystic kidney disease
+2 more
GPathogenic/Likely pathogenic
PKD2
(Y836*)
Single nucleotide variant
(nonsense +1 more)
PKD2-related disorder
+1 more
GPathogenic
PKD2
(S949F)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GUncertain significance
PKD2
Copy number loss
Polycystic kidney disease 2
GLikely pathogenic
PKD2
(V318fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
LOC129992813, PKD2
(G37fs)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 2
GPathogenic
PKD2
(Q613*)
Single nucleotide variant
(nonsense +1 more)
Polycystic kidney disease 2
+2 more
GPathogenic/Likely pathogenic
PKD2
(D373fs)
Duplication
(frameshift variant +1 more)
Polycystic kidney disease 2
GLikely pathogenic
PKD2
(L258P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PKD2
(V722L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GLikely benign
PKD2
Single nucleotide variant
(intron variant)
Autosomal dominant polycystic kidney disease
+1 more
GLikely benign
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Polycystic kidney disease 2
+1 more
GLikely benign
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Polycystic kidney disease 2
+1 more
GLikely benign
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