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Links from MedGen

Items: 1 to 100 of 377

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM237
(Q155* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome 14
GPathogenic
TMEM237
Single nucleotide variant
(splice acceptor variant)
Joubert syndrome 14
GLikely pathogenic
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
Duplication
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
(S104G +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
Duplication
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
(K38T +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
(S289P +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Duplication
Joubert syndrome 14
GUncertain significance
ALS2, MPP4
+1 more
Deletion
Infantile-onset ascending hereditary spastic paralysis
+1 more
GPathogenic
TMEM237
Deletion
Joubert syndrome 14
GPathogenic
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
(T87N +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
(L23F +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
+1 more
GUncertain significance
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
LOC129935417, TMEM237
(G12S)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
(E130fs +1 more)
Deletion
(frameshift variant)
Joubert syndrome 14
GPathogenic
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
(R101Q +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
(K101E +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
+1 more
GUncertain significance
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
(W234* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome and related disorders
+1 more
GPathogenic/Likely pathogenic
TMEM237
(G381S +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
(T90A +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
(T276A +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GUncertain significance
TMEM237
(S232fs +1 more)
Duplication
(frameshift variant)
Joubert syndrome 14
GPathogenic
TMEM237
(N35fs +1 more)
Duplication
(frameshift variant)
Joubert syndrome 14
GPathogenic
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
(G343S +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
(T36I +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
(L107V +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
Microsatellite
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
(K100N +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
(A279D +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
(S332del +1 more)
Microsatellite
(inframe_deletion)
Joubert syndrome 14
GUncertain significance
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
(R15H +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
+1 more
GUncertain significance
TMEM237
(R178I +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
(S364P +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Duplication
(intron variant)
Joubert syndrome 14
GBenign
TMEM237
(T61A +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Single nucleotide variant
(splice acceptor variant)
Joubert syndrome 14
GLikely pathogenic
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
(G44V +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
(L316V +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Deletion
(intron variant)
Joubert syndrome 14
GUncertain significance
TMEM237
(R7C +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
(L12R +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
(S407F +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
(A398D +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
+1 more
GUncertain significance
TMEM237
(A116T +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
(I228T +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
(V360M +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
(E343K +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
GUncertain significance
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(synonymous variant)
Joubert syndrome 14
GLikely benign
TMEM237
Deletion
(intron variant)
Joubert syndrome 14
GBenign
TMEM237
Duplication
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Deletion
(intron variant)
Joubert syndrome 14
GBenign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
TMEM237
Single nucleotide variant
(intron variant)
Joubert syndrome 14
GLikely benign
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