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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAF1
(M1L)
Single nucleotide variant
(non-coding transcript variant +2 more)
Intellectual disability, X-linked, syndromic 33
+1 more
GLikely pathogenic; association
TAF1
(I464N +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked, syndromic 33
GPathogenic
TAF1
(G680D +2 more)
Single nucleotide variant
(missense variant +1 more)
Heart, malformation of
+1 more
GLikely pathogenic; association
TAF1
(R727P +2 more)
Single nucleotide variant
(missense variant +1 more)
Heart, malformation of
+1 more
GUncertain significance; association
TAF1
(R890C +2 more)
Single nucleotide variant
(missense variant +1 more)
TAF1-related syndromic intellectual disability
GLikely pathogenic
TAF1
(D935H +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked, syndromic 33
GPathogenic
TAF1
(T937M +1 more)
Single nucleotide variant
(missense variant +1 more)
Heart, malformation of
Gassociation
TAF1
(S985F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
TAF1
(T1012I +2 more)
Single nucleotide variant
(missense variant +1 more)
Heart, malformation of
+1 more
GLikely pathogenic; association
TAF1
(R1205W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TAF1
(G1245R +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked dystonia-parkinsonism
GUncertain significance
TAF1
(L1330P +1 more)
Single nucleotide variant
(missense variant +1 more)
Heart, malformation of
Gassociation
TAF1
(R1397Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Heart, malformation of
+1 more
GUncertain significance; association
TAF1
(R1411H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
TAF1
(N1481I +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked, syndromic 33
+1 more
GLikely pathogenic; association
TAF1
(H1485R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
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