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Links from MedGen

Items: 1 to 100 of 826

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCF4, TCF4-AS1
(S102C +4 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
LOC126862757, TCF4
(I202V +11 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
LOC126862757, TCF4
(T240A +11 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(M103I +11 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
LOC121627832, TCF4
(R413C +13 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4, TCF4-AS1
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
LOC121627832, TCF4
(H293Y +13 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4, TCF4-AS1
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
LOC121627832, TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(M25L +3 more)
Single nucleotide variant
(missense variant +1 more)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
(G127D +7 more)
Single nucleotide variant
(missense variant +1 more)
Pitt-Hopkins syndrome
GUncertain significance
TCF4, TCF4-AS1
Single nucleotide variant
(splice acceptor variant)
Pitt-Hopkins syndrome
GLikely pathogenic
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(E425D +21 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
Duplication
(intron variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
(N314S +11 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
(R349H +21 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
(S398Y +13 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
(S114L +5 more)
Single nucleotide variant
(missense variant +1 more)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(P521T +21 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4, TCF4-AS1
(S189P +4 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(G113R +1 more)
Single nucleotide variant
(missense variant +1 more)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(G118D +5 more)
Single nucleotide variant
(missense variant +1 more)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
(N149D +11 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
(I380F +13 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
(R286fs +13 more)
Deletion
(frameshift variant)
Pitt-Hopkins syndrome
GPathogenic
TCF4
(G374fs +13 more)
Deletion
(frameshift variant)
Pitt-Hopkins syndrome
GPathogenic
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(K116fs +1 more)
Deletion
(frameshift variant +1 more)
Pitt-Hopkins syndrome
GPathogenic
TCF4
Single nucleotide variant
(synonymous variant +1 more)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(M109I +1 more)
Single nucleotide variant
(missense variant +1 more)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(S100N +7 more)
Single nucleotide variant
(missense variant +1 more)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(S369fs +13 more)
Deletion
(frameshift variant)
Pitt-Hopkins syndrome
GPathogenic
TCF4
Single nucleotide variant
(intron variant +1 more)
Pitt-Hopkins syndrome
GLikely benign
LOC126862757, TCF4
(H243Y +11 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
LOC121627832, TCF4
(V235L +13 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
(P431A +13 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
(E417G +21 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GPathogenic
TCF4
Single nucleotide variant
(synonymous variant +1 more)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(M170I +11 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
(E561K +21 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4, TCF4-AS1
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(N463S +13 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4, TCF4-AS1
(I202K +4 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
(G287V +13 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
LOC121627832, TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(D332E +13 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
(P341S +13 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(H338Y +13 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
(A184V +11 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(L445P +21 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
LOC126862757, TCF4
Single nucleotide variant
(intron variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
(V258L +13 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GUncertain significance
TCF4
(P315fs +13 more)
Deletion
(frameshift variant)
Pitt-Hopkins syndrome
GPathogenic
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins syndrome
GLikely benign
TCF4
Single nucleotide variant
(splice acceptor variant)
Pitt-Hopkins syndrome
GLikely pathogenic
TCF4
(F140L +10 more)
Single nucleotide variant
(missense variant +1 more)
TCF4-related condition
GUncertain significance
TCF4
(D148H +11 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GLikely pathogenic
TCF4
Deletion
Pitt-Hopkins syndrome
GPathogenic
TCF4
(P130L +3 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
+1 more
GUncertain significance
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