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Items: 1 to 100 of 152

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKD1L2
(A1316V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(P1286S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(L1278I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(L1958V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(H1253N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(E1247K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(R1917S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(S1234R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PKD1L2
(P1215A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(A1194P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC112486210, PKD1L2
(P1869S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC112486210, PKD1L2
(E1180G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC112486210, PKD1L2
(V1176I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC112486210, PKD1L2
(M1856I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LOC112486210, PKD1L2
(R1846S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC112486210, PKD1L2
(L1160M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2, LOC112486210
(G1159D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(A1800E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V1012I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(L1008V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(A991P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(A984G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V1660I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(R936P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(I1584T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(F885S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(M1566I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(R864H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(S1534L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(D846V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(A842T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PKD1L2
(T1507M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V1498I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(R798Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PKD1L2
(R798W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(R1480G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V1468M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(R781Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
PKD1L2
(D1462H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(K1406E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(S723L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(N1381S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V691M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(K683R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V674M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V1345M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(G634R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V1296M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(C1279Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(T587M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(G1246R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(Q559E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
PKD1L2
(T1235M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(A1220D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(D1219N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(N1214S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(Y1211C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(I1201T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(P1199L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(Q1194H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(R1161Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(R479W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(E1156K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(G461D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(S1142N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(M1114V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(I429M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(L1102P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(S398P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(T386S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(S1026R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(A1022V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(P1018A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(S1008N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V958L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(A252T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(Q922E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(T199I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(P198R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V869G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V859A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(N832K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(L144V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(S811C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(P782T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(A74G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(R748I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(G60R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(S58F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(S740P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(T733M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(T48A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(D709G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(L14W +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(W659C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(L650V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(G639A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(R636C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V633A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(P624L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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