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Links from MedGen

Items: 1 to 100 of 340

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBX3
(A443V +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(G540S +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(intron variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(L710P +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(intron variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(T442A +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(P444del +1 more)
Deletion
(inframe_deletion)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(H187D)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(R249Q +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3-AS1, TBX3
Microsatellite
(intron variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(G386V +1 more)
Indel
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(L272F +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(A696V +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3, TBX3-AS1
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(G406R +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
Deletion
(inframe_deletion)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(intron variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(V202I)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(N612K +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(intron variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(A667E +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(R284W +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(T638A +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(S699N +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(P188S)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(A411G +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(A325T +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(L657V +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(L710V +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(G569R +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(A645V +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(T339I +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(Q725R +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(Q583R +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(P596S +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3, TBX3-AS1
(V33L)
Indel
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3, TBX3-AS1
(P47L)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3, TBX3-AS1
(S2T)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(E380Q +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(T399M +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3, TBX3-AS1
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(A468V +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(A659D +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(H624R +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(D414N +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3, TBX3-AS1
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(P461R +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(A573P +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(S682N +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(R385C +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(A147fs)
Duplication
(frameshift variant)
Ulnar-mammary syndrome
GPathogenic
TBX3
(P497N +1 more)
Indel
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(A488T +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(N277T +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(M302V +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
+1 more
GUncertain significance
TBX3
(K374T +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(M514V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBX3
(R290* +1 more)
Single nucleotide variant
(nonsense)
Ulnar-mammary syndrome
GPathogenic
TBX3
(G496V +1 more)
Single nucleotide variant
(missense variant)
TBX3-related condition
+2 more
GUncertain significance
TBX3
(E432fs +1 more)
Duplication
(frameshift variant)
Ulnar-mammary syndrome
GPathogenic
TBX3
(A391fs +1 more)
Duplication
(frameshift variant)
Ulnar-mammary syndrome
GLikely pathogenic
TBX3
(M588R +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Duplication
(inframe_insertion)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3, TBX3-AS1
(P95S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBX3
(A644V +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(A357P +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(I625M +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(P541T +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
(S351I +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(A646V +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3
Single nucleotide variant
(intron variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(P502A +1 more)
Single nucleotide variant
(missense variant)
Ulnar-mammary syndrome
GUncertain significance
TBX3, TBX3-AS1
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
TBX3
(M588V +1 more)
Single nucleotide variant
(missense variant)
TBX3-related condition
+1 more
GUncertain significance
TBX3
Single nucleotide variant
(synonymous variant)
Ulnar-mammary syndrome
GLikely benign
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