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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAF1
(A97V)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked, syndromic 33
GUncertain significance
TAF1
(M471L +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked dystonia-parkinsonism
GUncertain significance
TAF1
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, X-linked, syndromic 33
+1 more
GUncertain significance
TAF1
(R686Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked, syndromic 33
GLikely pathogenic
TAF1
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked, syndromic 33
GUncertain significance
TAF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TAF1
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked, syndromic 33
+1 more
GUncertain significance
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