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Items: 1 to 100 of 195

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CC2D2A
(E1245fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(Q667* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(E857fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(E1481fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(E108* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(Q548fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Single nucleotide variant
(splice donor variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Single nucleotide variant
(splice donor variant)
Familial aplasia of the vermis
+1 more
GLikely pathogenic
CC2D2A
(G102* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(Y1485* +2 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Single nucleotide variant
(splice donor variant)
Familial aplasia of the vermis
+1 more
GLikely pathogenic
CC2D2A
(I175fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(E451fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(S373fs +1 more)
Insertion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(K9*)
Single nucleotide variant
(nonsense)
Meckel-Gruber syndrome
+1 more
GPathogenic
CC2D2A
(R1206fs +1 more)
Deletion
(frameshift variant)
Meckel-Gruber syndrome
+1 more
GPathogenic
CC2D2A
(C1063* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(I1454fs +1 more)
Duplication
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(E253fs +1 more)
Microsatellite
(frameshift variant +1 more)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(E513* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(V580fs +1 more)
Duplication
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(R129fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(K1456* +2 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(Q1247* +1 more)
Single nucleotide variant
(nonsense)
Meckel-Gruber syndrome
+1 more
GPathogenic
CC2D2A
(V884fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(E1318fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Single nucleotide variant
(splice acceptor variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
CC2D2A
Single nucleotide variant
(splice acceptor variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
CC2D2A
(W1440* +2 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Single nucleotide variant
(splice acceptor variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
CC2D2A
Insertion
(nonsense +2 more)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Single nucleotide variant
(splice donor variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
CC2D2A
Single nucleotide variant
(splice acceptor variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
CC2D2A
(E6*)
Single nucleotide variant
(nonsense)
Meckel-Gruber syndrome
+1 more
GPathogenic
CC2D2A
Deletion
(nonsense +1 more)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(K88fs +1 more)
Microsatellite
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Deletion
(nonsense)
Meckel-Gruber syndrome
+1 more
GPathogenic
CC2D2A
(E910* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(V484fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(L119* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(G58fs +2 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Deletion
(nonsense +1 more)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(Y1092* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(Y1310* +2 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(Q280fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(A1442fs +1 more)
Duplication
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Single nucleotide variant
(splice acceptor variant)
Meckel-Gruber syndrome
+1 more
GPathogenic
CC2D2A
Single nucleotide variant
(splice acceptor variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
CC2D2A
(D1157fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(A806fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(V633fs +1 more)
Duplication
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(Q1017* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Deletion
(genic downstream transcript variant)
Meckel-Gruber syndrome
+1 more
GPathogenic
CC2D2A
Single nucleotide variant
(splice donor variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
CC2D2A
(R26fs)
Deletion
(frameshift variant)
Meckel-Gruber syndrome
+1 more
GPathogenic
CC2D2A
(V1350fs +1 more)
Duplication
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(G653fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(F1299fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(I1459fs +1 more)
Duplication
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(M190fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Deletion
(splice donor variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
CC2D2A
Single nucleotide variant
(splice donor variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
CC2D2A
Single nucleotide variant
(splice acceptor variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
CC2D2A
Single nucleotide variant
(splice donor variant)
Familial aplasia of the vermis
+1 more
GLikely pathogenic
CC2D2A
(Q27*)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(Q369* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Single nucleotide variant
(splice acceptor variant)
Familial aplasia of the vermis
+1 more
GLikely pathogenic
CC2D2A
(T12fs)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(E601* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(Q106* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(V538fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(R706* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(S1140fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(D1157* +1 more)
Duplication
(nonsense +1 more)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Single nucleotide variant
(splice donor variant)
Familial aplasia of the vermis
+1 more
GLikely pathogenic
CC2D2A
(K129fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(R1131* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Single nucleotide variant
(splice donor variant)
Familial aplasia of the vermis
+1 more
GLikely pathogenic
CC2D2A
Deletion
(nonsense +1 more)
Familial aplasia of the vermis
+2 more
GPathogenic
CC2D2A
Deletion
Meckel-Gruber syndrome
+1 more
GPathogenic
CC2D2A
Deletion
Meckel-Gruber syndrome
+1 more
GPathogenic
CC2D2A
Deletion
Meckel-Gruber syndrome
+1 more
GPathogenic
CC2D2A
(Y499* +1 more)
Single nucleotide variant
(nonsense)
Meckel-Gruber syndrome
+1 more
GPathogenic
CC2D2A
(E1120* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(I432fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(E146* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(F1327fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Single nucleotide variant
(splice acceptor variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
CC2D2A
(K751E +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+1 more
GUncertain significance
CC2D2A
Single nucleotide variant
(splice acceptor variant)
Familial aplasia of the vermis
+2 more
GLikely pathogenic
CC2D2A
(G1164fs +1 more)
Deletion
(frameshift variant)
Meckel-Gruber syndrome
+1 more
GPathogenic
CC2D2A
(E177* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(K1257fs +1 more)
Deletion
(frameshift variant)
Meckel-Gruber syndrome
+1 more
GPathogenic
CC2D2A
(R103fs +1 more)
Duplication
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
(Q1225* +2 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Single nucleotide variant
(splice donor variant)
Meckel syndrome, type 6
+2 more
GLikely pathogenic
CC2D2A
(C1474* +2 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+1 more
GPathogenic
CC2D2A
Single nucleotide variant
(splice donor variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
CC2D2A
Single nucleotide variant
(splice acceptor variant)
Familial aplasia of the vermis
+1 more
GLikely pathogenic
CC2D2A
Single nucleotide variant
(splice acceptor variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
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