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Links from MedGen

Items: 1 to 100 of 127

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM138
(D21E)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(Y134C +1 more)
Single nucleotide variant
(missense variant +3 more)
Joubert syndrome 16
GUncertain significance
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(3 prime UTR variant +3 more)
Joubert syndrome 16
GLikely benign
TMEM138
(I56V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Joubert syndrome 16
GUncertain significance
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
+1 more
GLikely benign
TMEM138
(S26A)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(R154C +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(synonymous variant +3 more)
Joubert syndrome 16
GLikely benign
TMEM138
(K19M +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(M59R +1 more)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(Q67E +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
Single nucleotide variant
(non-coding transcript variant +2 more)
Joubert syndrome 16
GLikely benign
TMEM138
(F62Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(S150T +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(F27S)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(N50D +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
Duplication
(intron variant)
Joubert syndrome 16
GBenign
TMEM138
Single nucleotide variant
(intron variant +3 more)
Joubert syndrome 16
GLikely benign
TMEM138
(R45G +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(R45fs +1 more)
Deletion
(frameshift variant +1 more)
Joubert syndrome 16
+1 more
GPathogenic/Likely pathogenic
TMEM138
(R103* +1 more)
Single nucleotide variant
(nonsense +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(R103fs +1 more)
Duplication
(frameshift variant +1 more)
Joubert syndrome 16
GPathogenic
TMEM138
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 16
GLikely benign
TMEM138
(W152R +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(P144fs +1 more)
Deletion
(frameshift variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(S150C +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(W46* +1 more)
Single nucleotide variant
(nonsense +1 more)
Joubert syndrome 16
GPathogenic
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GUncertain significance
TMEM138
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(synonymous variant +2 more)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 16
GLikely benign
TMEM138
Duplication
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 16
GLikely benign
TMEM138
(S5G)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(C73S +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(W104L +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(R103fs +1 more)
Duplication
(frameshift variant +1 more)
Joubert syndrome 16
GPathogenic
TMEM138
(S28A)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(H18R +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(L15F +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(L151fs +1 more)
Deletion
(frameshift variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
Deletion
Joubert syndrome 16
GPathogenic
TMEM138
(Q32*)
Single nucleotide variant
(nonsense +2 more)
Joubert syndrome 16
GPathogenic
TMEM138
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 16
GLikely benign
TMEM138
Deletion
(nonsense +2 more)
Joubert syndrome 16
GPathogenic
TMEM138
(N106I +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(T5A +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(R45C +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(A10D +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(S12Y)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GUncertain significance
TMEM138
(F66L +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(L12Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(A68V +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(I25T +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(S36C +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(L95V +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
+1 more
GConflicting classifications of pathogenicity
TMEM138
(P86L +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
+1 more
GUncertain significance
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(synonymous variant +2 more)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GPathogenic
TMEM138
(A69S +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(S34R +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
Single nucleotide variant
(3 prime UTR variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
Single nucleotide variant
(3 prime UTR variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
Single nucleotide variant
(3 prime UTR variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(K155E +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(R136W +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(V139I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TMEM138
Single nucleotide variant
(synonymous variant +2 more)
Joubert syndrome 16
+1 more
GLikely benign
TMEM138
Single nucleotide variant
(intron variant)
Joubert syndrome 16
GLikely benign
TMEM138
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 16
+1 more
GLikely benign
TMEM138
(S19C)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 16
GUncertain significance
TMEM138
(R154H +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Joubert syndrome 16
GUncertain significance
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