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Links from MedGen

Items: 1 to 100 of 1635

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
(P2429A +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(Q1154P +2 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(V1143L +2 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Duplication
(inframe_insertion +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(P1375T +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(A2596V +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Microsatellite
(inframe_insertion +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(V1673L +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(S1785F +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(Q1787K +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
(Y1110N +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(N1109I +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(splice acceptor variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely pathogenic
WNK1
(G1156E +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(K1706E +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(E118G)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(S158C)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(M2526I +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(I1171V +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
(T665A)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(V1030L +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
(V1303A +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(E529K)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(Q2352* +3 more)
Single nucleotide variant
(nonsense)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
(P21S)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
(Y870S +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(V1074I +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(V724fs)
Insertion
(frameshift variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(L1093S +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(V1865I +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(S1271P +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(S1019G +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(S2056A +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(A755V +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
(G678S)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
(F1498Y +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(L1064V +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
(T1757fs +3 more)
Microsatellite
(frameshift variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GPathogenic
WNK1
(S1038T +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
(N1126H +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
(S2041C +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
(T1190I +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(L1570W +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(T1070S +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(T1502I +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(L1707P +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(P1005H +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(T1767A +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
(G788E +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(V2173M +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(A1312V +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
(V125E)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(S1147fs +1 more)
Deletion
(frameshift variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GPathogenic
WNK1
(S30R)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(C1766P +3 more)
Indel
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(M214T)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
(H693L)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(P2369L +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(R787fs)
Deletion
(frameshift variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GLikely benign
WNK1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
WNK1
(P1766L +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
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