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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM231
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 20
+2 more
GBenign
TMEM231
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GBenign/Likely benign
TMEM231
(E317A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
TMEM231
(R303Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 20
+3 more
GConflicting classifications of pathogenicity
TMEM231
(F296L +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 11
+2 more
GUncertain significance
TMEM231
(D209N +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome and related disorders
+4 more
GConflicting classifications of pathogenicity
TMEM231
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 20
+2 more
GConflicting classifications of pathogenicity
TMEM231
(S64F)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 20
+3 more
GConflicting classifications of pathogenicity
TMEM231
(A31T)
Single nucleotide variant
(synonymous variant +2 more)
Meckel syndrome, type 11
+2 more
GConflicting classifications of pathogenicity
TMEM231
Single nucleotide variant
(synonymous variant +1 more)
TMEM231-related condition
+3 more
GConflicting classifications of pathogenicity
TMEM231
(T8S)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GLikely benign
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