U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 1570

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKD1
(T591P)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(T3947R +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(V3221fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
Single nucleotide variant
(splice acceptor variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(Y2004C)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(A1311fs)
Insertion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1, PKD1-AS1
(S3522fs +1 more)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
Deletion
(nonsense)
Polycystic kidney disease, adult type
GPathogenic
PKD1, PKD1-AS1
Deletion
(splice acceptor variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(C406Y)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(T1833P)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(K3125E)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
Single nucleotide variant
(splice acceptor variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(C530fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(V2234L)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(W516fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(L2512fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GLikely pathogenic
PKD1
(Y1498C)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(L2920fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GLikely pathogenic
PKD1
(V2782fs)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
Single nucleotide variant
(splice acceptor variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(V2898fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(V2356G)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(R2435fs)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(T4205fs +1 more)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(V3979G +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1, PKD1-AS1
(L3600R +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(D1205fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1, PKD1-AS1
(R3891fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(E3233fs)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GLikely pathogenic
PKD1
(F4154S +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(L3996fs +1 more)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1, PKD1-AS1
(P3648S +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(L1054fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
Deletion
(inframe_deletion)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(H501Y)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(W1507*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(N2128S)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(L1054P)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1, PKD1-AS1
(A3570fs +1 more)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(V2257fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1, PKD1-AS1
(S3590P +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1, PKD1-AS1
(L3700P +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(A2852fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1, PKD1-AS1
(S3897fs +1 more)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
Duplication
(inframe_insertion)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(I3288fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(Q718R)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
Single nucleotide variant
(intron variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
Deletion
(inframe_deletion)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(C3015W)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GLikely pathogenic
PKD1
(L2993R)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(R2213P)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(N543fs)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(L3101*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(Q266*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(R2191C)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GLikely pathogenic
PKD1
(H1955del)
Deletion
(inframe_deletion)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(S3975I +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(Q3435fs +1 more)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(A3281P)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(L171*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(F3064fs)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(S4048fs +1 more)
Microsatellite
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1, PKD1-AS1
(G3668fs +1 more)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(T596N)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1, PKD1-AS1
(L3616fs +1 more)
Microsatellite
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(E2635fs)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1, PKD1-AS1
(L3556R +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(R2116fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
Single nucleotide variant
(splice donor variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(R2001fs)
Microsatellite
(frameshift variant)
Polycystic kidney disease, adult type
GLikely pathogenic
PKD1
(E3020K)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(V3480fs +1 more)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GLikely pathogenic
PKD1
(N983S)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1, PKD1-AS1
(G3573R +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(V1872G)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(R4137H +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(A989fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
Single nucleotide variant
(splice donor variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1, PKD1-AS1
(S3883fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(T258fs)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
Single nucleotide variant
(intron variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1, PKD1-AS1
Deletion
(splice donor variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(Q3435fs +1 more)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1, PKD1-AS1
(R3699C +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(W2187C)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(Y3017D)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1, PKD1-AS1
(L3653fs +1 more)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(T301fs)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1
(F1919S)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
Deletion
(inframe deletion)
Polycystic kidney disease, adult type
GUncertain significance
PKD1, PKD1-AS1
(E3852K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(R3269W)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(G261fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
PKD1, PKD1-AS1
(A3880D +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Polycystic kidney disease, adult type
GUncertain significance
Format
Items per page
Sort by
Choose Destination