U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from PubMed

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CC2D2A
(R1420S +2 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+1 more
GLikely pathogenic
CC2D2A
(L1502P +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
CC2D2A
(R1528H +1 more)
Single nucleotide variant
(missense variant)
CC2D2A-related disorder
+4 more
GConflicting classifications of pathogenicity
CC2D2A
(P1122R +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+1 more
GConflicting classifications of pathogenicity
CC2D2A
(R1019* +1 more)
Single nucleotide variant
(nonsense)
Meckel-Gruber syndrome
+6 more
GPathogenic/Likely pathogenic
CC2D2A
(Q1096H +1 more)
Single nucleotide variant
(missense variant)
Ciliopathy
+3 more
GConflicting classifications of pathogenicity
CC2D2A
Deletion
(splice acceptor variant)
See cases
+6 more
GPathogenic
CC2D2A
(R950* +1 more)
Single nucleotide variant
(nonsense)
Meckel-Gruber syndrome
+5 more
GPathogenic
CC2D2A
(R1528C +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+5 more
GPathogenic/Likely pathogenic
CC2D2A
(P1122S +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+4 more
GConflicting classifications of pathogenicity
CC2D2A
Single nucleotide variant
(splice donor variant)
Joubert syndrome 9
GPathogenic
Format
Items per page
Sort by
Choose Destination