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Links from MedGen

Items: 1 to 100 of 806

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAJB11
(Y89*)
Duplication
(nonsense +1 more)
Autosomal dominant polycystic kidney disease
GLikely pathogenic
PKD1
(L2574fs)
Deletion
(frameshift variant)
Autosomal dominant polycystic kidney disease
GLikely pathogenic
PKD1
(T558M)
Single nucleotide variant
(missense variant)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD1
(S2868*)
Single nucleotide variant
(nonsense)
Autosomal dominant polycystic kidney disease
+1 more
GConflicting classifications of pathogenicity
PKD2
(R848P)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD1
(L2286fs)
Duplication
(frameshift variant)
Autosomal dominant polycystic kidney disease
GPathogenic
PKD1
Single nucleotide variant
(intron variant)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD1
(R3169W)
Single nucleotide variant
(missense variant)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD1
(T1350M)
Single nucleotide variant
(missense variant)
Autosomal dominant polycystic kidney disease
GUncertain significance
LOC129992813, PKD2
(G135V)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
Single nucleotide variant
(intron variant)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
Single nucleotide variant
(intron variant)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
(V722M)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
Single nucleotide variant
(intron variant)
Autosomal dominant polycystic kidney disease
GLikely benign
LOC129992813, PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
Single nucleotide variant
(intron variant)
Autosomal dominant polycystic kidney disease
GLikely benign
LOC129992813, PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
Single nucleotide variant
(intron variant)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
(S964C)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(G749D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
LOC129992813, PKD2
Deletion
(inframe_deletion +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
LOC129992813, PKD2
(A38T)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
LOC129992813, PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
LOC129992813, PKD2
(D66N)
Indel
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(I522L)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(H379Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(R251W)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
LOC129992813, PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
LOC129992813, PKD2
(K16E)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(A475S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(I649V)
Single nucleotide variant
(missense variant)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
Single nucleotide variant
(intron variant)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
LOC129992813, PKD2
(P12L)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
LOC129992813, PKD2
(R119P)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(H773Y)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(I522V)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(H501R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(T588A)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(R945L)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(E837K)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GBenign
PKD2
(R803G)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
LOC129992813, PKD2
(L180V)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
LOC129992813, PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
(A407T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PKD2
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
Single nucleotide variant
(intron variant)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
(R730Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(Y248C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
(V569F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
(R213Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
(I333V)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(L796F)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
Single nucleotide variant
(intron variant)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
LOC129992813, PKD2
(G13R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
Single nucleotide variant
(synonymous variant)
Autosomal dominant polycystic kidney disease
GLikely benign
LOC129992813, PKD2
(P120R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GBenign/Likely benign
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
(L273fs)
Deletion
(non-coding transcript variant +1 more)
Autosomal dominant polycystic kidney disease
GPathogenic
LOC129992813, PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
(R910H)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GLikely benign
PKD2
(N531D)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(V532L)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
LOC129992813, PKD2
(C164Y)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
Single nucleotide variant
(intron variant)
Autosomal dominant polycystic kidney disease
GLikely benign
LOC129992813, PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
(A615T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely pathogenic
LOC129992813, PKD2
(P19S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
Single nucleotide variant
(intron variant)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
(M800I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
LOC129992813, PKD2
(R22L)
Indel
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(D416H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
Duplication
(splice donor variant)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(Q585H)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
LOC129992813, PKD2
(E48D)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(R883fs)
Deletion
(non-coding transcript variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely pathogenic
PKD2
(I640V)
Single nucleotide variant
(missense variant)
Autosomal dominant polycystic kidney disease
GUncertain significance
LOC129992813, PKD2
(A62V)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
PKD2
(G657R)
Single nucleotide variant
(missense variant)
Autosomal dominant polycystic kidney disease
GUncertain significance
LOC129992813, PKD2
(P75H)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
PKD2
(Y391C)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GUncertain significance
LOC129992813, PKD2
(C47F)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant polycystic kidney disease
GUncertain significance
LOC129992813, PKD2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant polycystic kidney disease
GLikely benign
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