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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM237
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
TMEM237
(V356M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TMEM237
(N354K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMEM237
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TMEM237
(I283V +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
+1 more
GUncertain significance
TMEM237
(V147I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
TMEM237
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TMEM237
(N57S +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 14
+2 more
GBenign/Likely benign
TMEM237
Single nucleotide variant
(intron variant)
TMEM237-related condition
+3 more
GBenign/Likely benign
TMEM237
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
TMEM237
(S25fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
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