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Links from Gene

Items: 1 to 100 of 233

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKD1L2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ATMIN, BCO1
+7 more
Copy number gain
not specified
GUncertain significance
PKD1L2
(L1033P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ATMIN, C16orf46
+4 more
Copy number loss
not provided
GUncertain significance
ATMIN, C16orf46
+4 more
Copy number loss
not provided
GUncertain significance
ATMIN, BCO1
+5 more
Copy number gain
not provided
GUncertain significance
ADAMTS18, ADAT1
+67 more
Copy number gain
not provided
GPathogenic
ARLNC1, ATMIN
+162 more
Copy number loss
CMIP-related neurodevelopmental disorder
GLikely pathogenic
PKD1L2
(T513I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(Q559E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
PKD1L2
(R505H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
PKD1L2
(L144V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(G157S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V618F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V1012I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(T48A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(T232N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(G197R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(G379E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(P402L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(L407V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(R95W)
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
(T386S +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
(D201Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(G541S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
PKD1L2
(M1114V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(R781Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
PKD1L2
(L391V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(Y1211C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(G134R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(N110S)
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
(T127S)
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
PKD1L2
(Q1194H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(T434I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(T1235M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(L650V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(Q250H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(A984G +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
(P1018A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(Q922E +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
(V1296M +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
(A1220D +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
(N832K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(D846V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(P239R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(S58F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(S723L +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
(R186C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC112486210, PKD1L2
(L1160M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(A1194P +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
(P198R +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
(A1022V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC112486210, PKD1L2
(E1180G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V1498I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V674M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(I389V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(R479W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PKD1L2
(H1253N +1 more)
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
(L374H)
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
(T199I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V339M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2, LOC112486210
(G1159D +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
(S546P +1 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
(H423P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(S1008N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(S811C +2 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
(V1468M +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
(H307P +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
(R864H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(Q308P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(T1507M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V1345M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(P581A +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
(G60R +2 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
(T345M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(K683R +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
(G634R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(P512T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L2
(V869G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
Display optionsSort by RelevanceDownload
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