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Items: 1 to 100 of 413

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPLANE1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
CPLANE1
(K1601fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CPLANE1
(M1958fs)
Duplication
(frameshift variant)
not provided
GPathogenic
CPLANE1
(W1753*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC130004408, TCTN3
(M1K +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 18
+1 more
GPathogenic
LOC130061271, MKS1
(M1K)
Single nucleotide variant
(5 prime UTR variant +2 more)
Meckel-Gruber syndrome
+1 more
GPathogenic
TMEM67
(K99R)
Single nucleotide variant
(missense variant +2 more)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
LOC130061271, MKS1
(M1T)
Single nucleotide variant
(missense variant +2 more)
Meckel-Gruber syndrome
+1 more
GPathogenic
CPLANE1
(S2333fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CPLANE1
(S2747fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
AHI1
(R723W)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
GUncertain significance
CPLANE1
(T443fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CPLANE1
(G2898* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
Deletion
(nonsense)
not provided
GPathogenic
CPLANE1
(W1789*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(L2580fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CPLANE1, LOC129389274
(E1438*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
CPLANE1
(M435fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CPLANE1
(S627*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(A1299fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CPLANE1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
CPLANE1
(S2186*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
AHI1
(R723G)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
GLikely pathogenic
CPLANE1
(R564fs)
Duplication
(frameshift variant)
not provided
GPathogenic
CPLANE1
(K2583*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(P1659fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CPLANE1
(S2554fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CPLANE1
Microsatellite
(nonsense)
not provided
GPathogenic
CPLANE1
(E2032*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(W217*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(R466*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
CPLANE1
(Q2979* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome and related disorders
+1 more
GPathogenic
CPLANE1
(A1200V +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 17
GLikely pathogenic
TCTN2
Deletion
Familial aplasia of the vermis
+1 more
GPathogenic
CPLANE1
Duplication
not provided
GPathogenic
CPLANE1
Deletion
not provided
GPathogenic
CPLANE1, NIPBL
+1 more
Deletion
not provided
GPathogenic
CPLANE1
(K1420*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(R871H)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CPLANE1
(W778*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(Y1004*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(M594fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CPLANE1
(Q1965fs)
Deletion
(frameshift variant)
not provided
GPathogenic
B9D1
(F95L)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+1 more
GUncertain significance
TCTN2
(I539M +2 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
CPLANE1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
CPLANE1
(S1962*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
CPLANE1
(R2952fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
CPLANE1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
TMEM216
(N121fs +1 more)
Duplication
(frameshift variant)
Familial aplasia of the vermis
GPathogenic
TCTN3, LOC130004408
(M19T +1 more)
Single nucleotide variant
(missense variant +1 more)
Orofacial-digital syndrome IV
+1 more
GPathogenic
CPLANE1
(Q2319*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
CPLANE1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
CPLANE1
(Q1039*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(Q1214*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(W580*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(F748fs)
Deletion
(frameshift variant)
not provided
GPathogenic
TCTN2
(G204S +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
MKS1
Single nucleotide variant
(splice acceptor variant)
Familial aplasia of the vermis
+1 more
GLikely pathogenic
TCTN2
(I539T +2 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
CPLANE1
(D1027fs)
Duplication
(frameshift variant)
not provided
GPathogenic
CPLANE1
(G2174fs)
Duplication
(frameshift variant)
not provided
GPathogenic
CPLANE1
(V1032fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CPLANE1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
CPLANE1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic/Likely pathogenic
LOC130004408, TCTN3
(M19V +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 18
+1 more
GPathogenic/Likely pathogenic
MKS1
(C492W +3 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 13
GLikely pathogenic
INPP5E
(R584C +1 more)
Single nucleotide variant
(missense variant)
INPP5E-related disorder
+2 more
GPathogenic/Likely pathogenic
CPLANE1
Duplication
not provided
GLikely pathogenic
CPLANE1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
CPLANE1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
CC2D2A
(L510R +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+1 more
GLikely pathogenic
CPLANE1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
CPLANE1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
CPLANE1
Deletion
not provided
GPathogenic
CPLANE1
(F2803fs +1 more)
Microsatellite
(frameshift variant)
not provided
GPathogenic
CPLANE1
(D2831fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
CPLANE1
(L1386fs)
Duplication
(frameshift variant)
Joubert syndrome 17
+1 more
GPathogenic/Likely pathogenic
CPLANE1
(K2345fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CPLANE1
(S2186fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CPLANE1
(S915fs)
Duplication
(frameshift variant)
not provided
GPathogenic
CPLANE1
(N1865fs)
Duplication
(frameshift variant)
not provided
GPathogenic
CPLANE1
(Q1202*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(L809*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(G2441fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CC2D2A
(E1000V +1 more)
Inversion
(missense variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CPLANE1
(N2489fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CPLANE1
(E1945*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(R2467fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CPLANE1
(Q2944* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(Q2468*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(R400fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
CPLANE1
(C1277fs)
Duplication
(frameshift variant)
not provided
GPathogenic
CPLANE1
(Y872*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CPLANE1
(R1756fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CPLANE1
(L475fs)
Insertion
(frameshift variant)
not provided
GPathogenic
CPLANE1
(N1302fs)
Deletion
(frameshift variant)
not provided
GPathogenic
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