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Links from MedGen

Items: 1 to 100 of 247

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPLANE1
(L1279fs)
Microsatellite
(frameshift variant)
Orofaciodigital syndrome type 6
GLikely pathogenic
CPLANE1
(A1200V +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 17
GLikely pathogenic
CPLANE1
Single nucleotide variant
(synonymous variant)
Orofaciodigital syndrome type 6
+1 more
GUncertain significance
CPLANE1
(Q2096*)
Single nucleotide variant
(nonsense)
Orofaciodigital syndrome type 6
GLikely pathogenic
CPLANE1
(C196R)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+1 more
GConflicting classifications of pathogenicity
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
(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
(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
CPLANE1
(H2242N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(T2385I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CPLANE1
(N2152K)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
+2 more
GUncertain significance
CPLANE1
(V2640I +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
+2 more
GUncertain significance
CPLANE1
(T372M)
Single nucleotide variant
(missense variant)
Joubert syndrome 17
+2 more
GUncertain significance
CPLANE1
(A2757V +1 more)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(D1910A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(H1392R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPLANE1
(M942V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CPLANE1
(Y2959C +1 more)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(A3124V +1 more)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 6
+2 more
GUncertain significance
CPLANE1
(S2160fs)
Deletion
(frameshift variant)
Orofaciodigital syndrome type 6
+2 more
GPathogenic/Likely pathogenic
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