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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCF4
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
TCF4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign
TCF4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
TCF4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
TCF4
(G592S +21 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TCF4
(R578H +21 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GPathogenic
TCF4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
TCF4
(V342fs +13 more)
Deletion
(frameshift variant)
not provided
GPathogenic
LOC121627832, TCF4
(T323fs +13 more)
Duplication
(frameshift variant)
not provided
GPathogenic
LOC121627832, TCF4
(G452R +13 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TCF4
Single nucleotide variant
(synonymous variant)
TCF4-related condition
+4 more
GConflicting classifications of pathogenicity
TCF4
(R385* +13 more)
Single nucleotide variant
(nonsense)
Pitt-Hopkins syndrome
+2 more
GPathogenic
TCF4
(W362* +13 more)
Single nucleotide variant
(nonsense)
Pitt-Hopkins syndrome
GLikely pathogenic
TCF4
(A315V +11 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GBenign
LOC126862757, TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
+3 more
GConflicting classifications of pathogenicity
TCF4
(Q250* +11 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
TCF4
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
TCF4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TCF4
(K42fs +8 more)
Microsatellite
(frameshift variant)
not provided
+3 more
GPathogenic
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GBenign
TCF4
(R157fs +8 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
TCF4
(R114K +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TCF4, TCF4-AS1
(N90S +4 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GBenign
TCF4, TCF4-AS1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
TCF4
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
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