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Links from MedGen

Items: 1 to 100 of 221

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CC2D2A
(A1085T +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
+2 more
GUncertain significance
CC2D2A
(Y223fs +1 more)
Deletion
(frameshift variant)
Joubert syndrome 9
GLikely pathogenic
CC2D2A
(E174K +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
GUncertain significance
CC2D2A
(W1302C +2 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
GLikely pathogenic
CC2D2A
(E855* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome 9
GPathogenic
CC2D2A
Microsatellite
(intron variant)
Retinitis pigmentosa 93
+5 more
GUncertain significance
CC2D2A
(R1230* +1 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
CC2D2A
(E621D +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
+2 more
GConflicting classifications of pathogenicity
CC2D2A
(E327V +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+5 more
GUncertain significance
CC2D2A
(E177K +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+4 more
GUncertain significance
CC2D2A
(P1514R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CC2D2A
(P672L +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+2 more
GUncertain significance
CC2D2A
Single nucleotide variant
(intron variant)
Joubert syndrome 9
+6 more
GLikely benign
CC2D2A
(K1414N +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
GUncertain significance
CC2D2A
(D262G +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 93
+6 more
GConflicting classifications of pathogenicity
CC2D2A
(R1396* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome 9
+3 more
GPathogenic/Likely pathogenic
CC2D2A
(G1152R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CC2D2A
(A1547T +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
GLikely pathogenic
CC2D2A
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CC2D2A
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CC2D2A
Single nucleotide variant
(synonymous variant)
Meckel syndrome, type 6
+5 more
GLikely benign
CC2D2A
(G1370fs +1 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic
CC2D2A
(Q1016fs +1 more)
Deletion
(frameshift variant)
Joubert syndrome 9
GLikely pathogenic
CC2D2A
(M100L +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+7 more
GUncertain significance
CC2D2A
(S1166R +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
+2 more
GUncertain significance
CC2D2A
(P1054T +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
+1 more
GUncertain significance
Leber congenital amaurosis
GPathogenic
CC2D2A
(R886* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+6 more
GPathogenic
CC2D2A
(Y1282C +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+1 more
GConflicting classifications of pathogenicity
CC2D2A
(R1022fs +1 more)
Deletion
(frameshift variant)
COACH syndrome 1
+2 more
GLikely pathogenic
CC2D2A
(A398V +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
+3 more
GUncertain significance
CC2D2A
(Q616R +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+5 more
GUncertain significance
CC2D2A
Single nucleotide variant
(splice acceptor variant)
Joubert syndrome 9
GPathogenic
CC2D2A
(W1462R +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
+2 more
GPathogenic/Likely pathogenic
CC2D2A
(M799V +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+1 more
GUncertain significance
CC2D2A
(S790F +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
+3 more
GConflicting classifications of pathogenicity
CC2D2A
(P603L +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+3 more
GUncertain significance
CC2D2A
(A188V +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+3 more
GConflicting classifications of pathogenicity
CC2D2A
(V151L +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+1 more
GUncertain significance
CC2D2A
Single nucleotide variant
(intron variant)
Meckel syndrome, type 6
+1 more
GUncertain significance
CC2D2A
Single nucleotide variant
(intron variant)
Joubert syndrome 9
+3 more
GConflicting classifications of pathogenicity
CC2D2A
Single nucleotide variant
(synonymous variant)
Meckel syndrome, type 6
+1 more
GUncertain significance
CC2D2A
(S620N +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+1 more
GUncertain significance
CC2D2A
Single nucleotide variant
Joubert syndrome 9
+1 more
GUncertain significance
CC2D2A
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CC2D2A
(I912T +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+4 more
GBenign/Likely benign
CC2D2A
(S577L +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+5 more
GConflicting classifications of pathogenicity
CC2D2A
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 6
+1 more
GUncertain significance
CC2D2A
(T1292S +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+3 more
GUncertain significance
CC2D2A
(D1042V +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+1 more
GUncertain significance
CC2D2A
Single nucleotide variant
(5 prime UTR variant)
Joubert syndrome 9
+1 more
GUncertain significance
CC2D2A
Single nucleotide variant
(5 prime UTR variant)
Meckel syndrome, type 6
+1 more
GConflicting classifications of pathogenicity
CC2D2A
(G880D +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+4 more
GUncertain significance
CC2D2A
Single nucleotide variant
(splice donor variant)
Joubert syndrome 9
+2 more
GConflicting classifications of pathogenicity
CC2D2A
(A568T +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+3 more
GConflicting classifications of pathogenicity
CC2D2A
(R1022Q +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
+2 more
GUncertain significance
CC2D2A
(R1109* +1 more)
Single nucleotide variant
(nonsense)
not provided
+7 more
GPathogenic/Likely pathogenic
SMAD6
(R342C)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 9
GUncertain significance
OXTR, CAV3
(W101L)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
GUncertain significance
CC2D2A
(G813R +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+3 more
GUncertain significance
CC2D2A
(G217fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+2 more
GPathogenic
CC2D2A
(T1341fs +1 more)
Microsatellite
(frameshift variant)
Joubert syndrome 9
GPathogenic
CC2D2A
(F1281L +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
GUncertain significance
CC2D2A
(E775K +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+4 more
GUncertain significance
CC2D2A
(E251K +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+6 more
GConflicting classifications of pathogenicity
CC2D2A
(A1059E +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+4 more
GUncertain significance
CC2D2A
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+4 more
GConflicting classifications of pathogenicity
CC2D2A
(W854G +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+7 more
GUncertain significance
CC2D2A
(Q433fs +1 more)
Indel
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
CC2D2A
(I1041fs +1 more)
Deletion
(frameshift variant)
Joubert syndrome 9
+2 more
GLikely pathogenic
CC2D2A
(G1251R +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+7 more
GUncertain significance
CC2D2A
(R1518W +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+2 more
GConflicting classifications of pathogenicity
CC2D2A
(T196fs +1 more)
Duplication
(frameshift variant)
Joubert syndrome 9
GLikely pathogenic
CC2D2A
Single nucleotide variant
(splice donor variant)
Joubert syndrome 9
+8 more
GPathogenic/Likely pathogenic
CC2D2A
(F308L +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
+6 more
GConflicting classifications of pathogenicity
CC2D2A
(C1413Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
CC2D2A
(E606V +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CC2D2A
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+5 more
GConflicting classifications of pathogenicity
CC2D2A
(T649M +1 more)
Single nucleotide variant
(missense variant)
COACH syndrome 1
+5 more
GConflicting classifications of pathogenicity
CC2D2A
(E1000del +1 more)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
CC2D2A
(R324C +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CC2D2A
(S875L +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
+5 more
GUncertain significance
Joubert syndrome 9
GLikely pathogenic
CC2D2A
(G1295R +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CC2D2A
(V1290A +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+6 more
GConflicting classifications of pathogenicity
CC2D2A
(A1577T +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+8 more
GConflicting classifications of pathogenicity
CC2D2A
(R495H +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
CC2D2A
(R127Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CC2D2A
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+5 more
GConflicting classifications of pathogenicity
CC2D2A
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 9
+1 more
GUncertain significance
CC2D2A
(P1563L +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+2 more
GUncertain significance
CC2D2A
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+4 more
GConflicting classifications of pathogenicity
CC2D2A
(Q1553H +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
+6 more
GUncertain significance
CC2D2A
(E1481A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CC2D2A
(T1401S +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+4 more
GConflicting classifications of pathogenicity
CC2D2A
(E1366D +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+3 more
GConflicting classifications of pathogenicity
CC2D2A
(R1224W +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+5 more
GUncertain significance
CC2D2A
(H1175R +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+1 more
GUncertain significance
CC2D2A
(D1167N +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+1 more
GUncertain significance
CC2D2A
Single nucleotide variant
(intron variant)
Meckel syndrome, type 6
+4 more
GConflicting classifications of pathogenicity
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