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Links from MedGen

Items: 1 to 100 of 468

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPLANE1
(G2174fs)
Deletion
(frameshift variant)
Joubert syndrome 17
GPathogenic
CPLANE1
Deletion
(nonsense)
Joubert syndrome 17
GPathogenic
CPLANE1
(A1200V +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 17
GLikely pathogenic
CPLANE1
(N952fs)
Insertion
(frameshift variant)
Joubert syndrome 17
GLikely pathogenic
CPLANE1
(D2039fs)
Deletion
(frameshift variant)
Joubert syndrome 17
GLikely pathogenic
CPLANE1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 17
GUncertain significance
CPLANE1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 17
GUncertain significance
CPLANE1
Single nucleotide variant
(splice donor variant)
Joubert syndrome 17
GUncertain significance
CPLANE1
(I1034T)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
GUncertain significance
CPLANE1
(T2415fs)
Duplication
(frameshift variant)
CPLANE1-related disorder
GPathogenic
CPLANE1
(C1245R)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
GUncertain significance
CPLANE1
(Q2460*)
Single nucleotide variant
(nonsense)
Joubert syndrome 17
GPathogenic
CPLANE1
Single nucleotide variant
(synonymous variant)
Orofaciodigital syndrome type 6
+1 more
GUncertain significance
CPLANE1
(W1020fs)
Microsatellite
(frameshift variant)
Joubert syndrome and related disorders
+1 more
GPathogenic/Likely pathogenic
CPLANE1
Deletion
(intron variant)
Joubert syndrome 17
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(intron variant)
Joubert syndrome 17
+2 more
GLikely benign
CPLANE1
(D1732G)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
+2 more
GBenign/Likely benign
CPLANE1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(intron variant)
Orofaciodigital syndrome type 6
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(synonymous variant)
Orofaciodigital syndrome type 6
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(intron variant)
Joubert syndrome 17
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(intron variant)
Orofaciodigital syndrome type 6
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(intron variant)
Joubert syndrome 17
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(intron variant)
Orofaciodigital syndrome type 6
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(intron variant)
Orofaciodigital syndrome type 6
+2 more
GLikely benign
CPLANE1
Duplication
(intron variant)
Orofaciodigital syndrome type 6
+2 more
GBenign/Likely benign
CPLANE1
Single nucleotide variant
(intron variant)
Joubert syndrome 17
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 17
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(intron variant)
Joubert syndrome 17
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
CPLANE1
Deletion
(intron variant)
Joubert syndrome 17
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 17
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CPLANE1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CPLANE1
Duplication
(intron variant)
Joubert syndrome 17
+2 more
GBenign/Likely benign
CPLANE1
Single nucleotide variant
(intron variant)
Orofaciodigital syndrome type 6
+2 more
GLikely benign
CPLANE1
Deletion
(intron variant)
not provided
+2 more
GBenign/Likely benign
CPLANE1
(V1414A)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
GUncertain significance
CPLANE1
(F606C)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
GUncertain significance
CPLANE1
(V2044I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(Y2653C +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
+2 more
GUncertain significance
CPLANE1
(H2215R)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(L1735V)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(Q2180E)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(S2862C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(V1407F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(S2629L +1 more)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(Y2579C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(T68A)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(P2521R)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(G3022E +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(S1684L)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
+2 more
GUncertain significance
CPLANE1
(A113E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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
Single nucleotide variant
(intron variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(C1280Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(R1752K)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(I608S)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(H2923R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(T2995I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(D1139H)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(I1352T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(E496G)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
Single nucleotide variant
(intron variant)
Joubert syndrome 17
+2 more
GUncertain significance
CPLANE1
(L1082S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(D1122N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
Deletion
(intron variant)
not provided
+2 more
GUncertain significance
CPLANE1
(T1714I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(R2171W)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
+2 more
GUncertain significance
CPLANE1
(M435V)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(L1386F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(V122I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(Y1560H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(M694I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(D2526N)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
+3 more
GUncertain significance
CPLANE1
(S1127A)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
Single nucleotide variant
(intron variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(M549V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CPLANE1
(K491I)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GUncertain significance
CPLANE1
(D888G)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
+2 more
GUncertain significance
CPLANE1
(Y653C)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(R785Q)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(P2360L)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(D2223V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(A1200E)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GPathogenic/Likely pathogenic
CPLANE1
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
CPLANE1
(L2199F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(H3049Y +1 more)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(Q1689R)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
+2 more
GUncertain significance
CPLANE1
(E3178K +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(S71N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CPLANE1
(K1186R)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
+2 more
GUncertain significance
CPLANE1
(I1705T)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
+2 more
GUncertain significance
CPLANE1
(E1955Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(S2245I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(V657M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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