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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CC2D2A
(L652V +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+1 more
GUncertain significance
CC2D2A
(D1507H +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+1 more
GUncertain significance
CC2D2A
(R1235H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
Joubert syndrome 9
GLikely pathogenic
CC2D2A
(L1533fs +1 more)
Microsatellite
(frameshift variant)
Meckel-Gruber syndrome
+2 more
GPathogenic
CC2D2A
Single nucleotide variant
(intron variant)
Joubert syndrome 9
+2 more
GConflicting classifications of pathogenicity
CC2D2A
(R1330Q +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+4 more
GConflicting classifications of pathogenicity
CC2D2A
(L559P +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+2 more
GPathogenic
CC2D2A
(I1199T +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+5 more
GUncertain significance
CC2D2A
(D1556V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GPathogenic/Likely pathogenic
CC2D2A
(S1615fs +1 more)
Microsatellite
(frameshift variant)
Meckel-Gruber syndrome
+4 more
GConflicting classifications of pathogenicity
CC2D2A
(R1019* +1 more)
Single nucleotide variant
(nonsense)
Meckel-Gruber syndrome
+6 more
GPathogenic/Likely pathogenic
CC2D2A
(V1045A +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+2 more
GPathogenic
CC2D2A
(V1151A +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CC2D2A
(R1284C +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+3 more
GPathogenic/Likely pathogenic
CC2D2A
(V1298fs +1 more)
Deletion
(frameshift variant)
Joubert syndrome 9
+2 more
GPathogenic
CC2D2A
(V1430A +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
+2 more
GPathogenic/Likely pathogenic
CC2D2A
(V660I +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
CC2D2A
(S117R +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+5 more
GConflicting classifications of pathogenicity
CC2D2A
(P721S +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 1
+5 more
GConflicting classifications of pathogenicity
CC2D2A
(K507E +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+5 more
GConflicting classifications of pathogenicity
CC2D2A
(E376A +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+5 more
GBenign
CC2D2A
Deletion
(splice acceptor variant)
See cases
+6 more
GPathogenic
CC2D2A
(T1116M +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
+3 more
GConflicting classifications of pathogenicity
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