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Links from MedGen

Items: 1 to 100 of 716

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBX1
Duplication
DiGeorge syndrome
GUncertain significance
TBX1
Duplication
DiGeorge syndrome
GLikely pathogenic
TBX1
Deletion
DiGeorge syndrome
GUncertain significance
TBX1
(A21T)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
+1 more
GLikely pathogenic
TBX1
Deletion
DiGeorge syndrome
GPathogenic
TBX1
(A213V +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
GUncertain significance
TBX1
(D366N +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(intron variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
(P419S +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
(G389S +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
(R441W +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(synonymous variant +1 more)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(intron variant)
DiGeorge syndrome
GLikely benign
TBX1
(A57del +1 more)
Microsatellite
(inframe_deletion)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
(G399V +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(intron variant)
DiGeorge syndrome
GLikely benign
TBX1
(P43T +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
GUncertain significance
TBX1
(R308G +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
(P494L +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
(P448R +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
(H68fs +1 more)
Duplication
(frameshift variant)
DiGeorge syndrome
GPathogenic
TBX1
(F274L +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(intron variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(intron variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(splice donor variant)
DiGeorge syndrome
GLikely pathogenic
TBX1
(D348E +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
(R342W +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(intron variant)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
Deletion
(inframe_deletion +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
(V325M +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
GUncertain significance
TBX1
(P56S +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(intron variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant +1 more)
DiGeorge syndrome
GLikely benign
TBX1
(P83S +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
GUncertain significance
TBX1
Microsatellite
(inframe_insertion +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(synonymous variant +1 more)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(intron variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant +1 more)
DiGeorge syndrome
GLikely benign
TBX1
(Y499D +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
(L394M +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
(P66L +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(intron variant)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(synonymous variant +1 more)
DiGeorge syndrome
GLikely benign
TBX1
(V163M +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
GUncertain significance
TBX1
(F81fs +1 more)
Deletion
(frameshift variant)
DiGeorge syndrome
GPathogenic
TBX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
TBX1
(I286T +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
GUncertain significance
TBX1
(W179R +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
GUncertain significance
TBX1
(H413R +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
(L427F +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(synonymous variant +1 more)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant +1 more)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(intron variant)
DiGeorge syndrome
GLikely benign
TBX1
(E409* +1 more)
Single nucleotide variant
(nonsense +1 more)
DiGeorge syndrome
GPathogenic
TBX1
(D167G +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GUncertain significance
TBX1
(G428W +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
Duplication
(intron variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant +1 more)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(intron variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant +1 more)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant +1 more)
DiGeorge syndrome
GLikely benign
TBX1
(P362L +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(intron variant)
DiGeorge syndrome
GLikely benign
TBX1
(A404V +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
(Q339* +1 more)
Single nucleotide variant
(nonsense)
DiGeorge syndrome
GPathogenic
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant +1 more)
DiGeorge syndrome
GLikely benign
TBX1
(F295S +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
GUncertain significance
TBX1
Deletion
(intron variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant +1 more)
DiGeorge syndrome
GLikely benign
TBX1
(T334K +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(intron variant)
DiGeorge syndrome
GLikely benign
TBX1
(P458S +1 more)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(intron variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant +1 more)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
(T334fs +1 more)
Deletion
(frameshift variant)
DiGeorge syndrome
GPathogenic
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
(S394fs +1 more)
Insertion
(frameshift variant +1 more)
DiGeorge syndrome
GPathogenic
TBX1
(H457fs +1 more)
Duplication
(frameshift variant +1 more)
DiGeorge syndrome
GUncertain significance
TBX1
Single nucleotide variant
(synonymous variant)
DiGeorge syndrome
GLikely benign
TBX1
Single nucleotide variant
(intron variant)
DiGeorge syndrome
GLikely benign
TBX1
(A463fs +1 more)
Deletion
(frameshift variant +1 more)
DiGeorge syndrome
GUncertain significance
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