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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130068417, TAF1
(P15L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TAF1
(K150E)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked, syndromic 33
+1 more
GUncertain significance
TAF1
(K243R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
TAF1
Microsatellite
(inframe_insertion +1 more)
TAF1-related condition
+2 more
GBenign/Likely benign
TAF1
(C281S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
TAF1
(I329M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAF1
(S340N +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TAF1
(F382V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TAF1
(R423G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAF1
(M426V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAF1
(Y466H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAF1
(N463S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
TAF1
(H643Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
TAF1
(R686W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
TAF1
(T707fs +1 more)
Duplication
(frameshift variant +1 more)
Inborn genetic diseases
GLikely pathogenic
TAF1
(G771S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TAF1
(I759V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
TAF1
(R825S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAF1
(S887F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAF1
(D945N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAF1
(R908H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAF1
(P982L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TAF1
(K1257I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAF1
(R1458C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TAF1
(P1442A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAF1
(V1579I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
TAF1
(A1601S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAF1
(N1654S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAF1
(G1669A +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GBenign/Likely benign
TAF1
(G1709R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAF1
(R1743C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GBenign/Likely benign
TAF1
(N1769Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAF1
(N1791K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TAF1
(S1821G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TAF1
(I1842V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
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