U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBX1
(A21T)
Single nucleotide variant
(missense variant +1 more)
DiGeorge syndrome
+1 more
GLikely pathogenic
TBX1
(Y237H +1 more)
Single nucleotide variant
(missense variant)
Tetralogy of Fallot
+2 more
GUncertain significance
AIFM3, ARVCF
+45 more
Copy number gain
Chromosome 22q11.2 deletion syndrome, distal
+1 more
GPathogenic
LOC130066999, LOC130067004
+170 more
Deletion
Velocardiofacial syndrome
GPathogenic
TBX1
(F382fs)
Indel
(frameshift variant +1 more)
Tetralogy of Fallot
+3 more
Gnot provided
TBX1
Single nucleotide variant
(splice donor variant)
DiGeorge syndrome
+2 more
GLikely pathogenic
TBX1
(G149D +1 more)
Single nucleotide variant
(missense variant)
Velocardiofacial syndrome
GUncertain significance
LOC130066986, LOC130066994
+170 more
Deletion
Velocardiofacial syndrome
GPathogenic
TBX1
Single nucleotide variant
(intron variant)
TBX1-related disorder
+4 more
GConflicting classifications of pathogenicity
TBX1
(Q247R +1 more)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
+3 more
GUncertain significance
TBX1
(C62* +1 more)
Single nucleotide variant
(nonsense)
DiGeorge syndrome
GPathogenic
TBX1
(S199L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX1
(R305Q +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
+3 more
GLikely benign
TBX1
Microsatellite
(inframe_deletion +1 more)
DiGeorge syndrome
+3 more
GUncertain significance
TBX1
(A349G +1 more)
Single nucleotide variant
(missense variant +1 more)
Velocardiofacial syndrome
+3 more
GUncertain significance
TBX1
(L159P +1 more)
Single nucleotide variant
(missense variant)
Tetralogy of Fallot
+2 more
GLikely pathogenic
TBX1
(E266K +1 more)
Single nucleotide variant
(missense variant)
DiGeorge syndrome
+4 more
GConflicting classifications of pathogenicity
TBX1
Insertion
(inframe_insertion +1 more)
Conotruncal heart malformations
+3 more
GUncertain significance
TBX1
(P396L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GUncertain significance
TBX1
(P384Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Conotruncal heart malformations
+4 more
GConflicting classifications of pathogenicity
SLC25A1, SLC7A4
+45 more
Copy number loss
Velocardiofacial syndrome
+1 more
GPathogenic
TBX1
Deletion
(inframe_deletion)
not provided
+5 more
GUncertain significance
C22orf39, CDC45
+47 more
Copy number loss
Velocardiofacial syndrome
+1 more
GPathogenic
C22orf39, AIFM3
+49 more
Copy number loss
Velocardiofacial syndrome
+1 more
GPathogenic
TRMT2A, USP41
+44 more
Copy number loss
Velocardiofacial syndrome
+1 more
GPathogenic
MRPL40, TANGO2
+49 more
Copy number loss
Velocardiofacial syndrome
+1 more
GPathogenic
PI4KA, PRODH
+44 more
Copy number loss
Velocardiofacial syndrome
+1 more
GPathogenic
TBX1
Single nucleotide variant
(synonymous variant)
Tetralogy of Fallot
+4 more
GConflicting classifications of pathogenicity
TBX1
Single nucleotide variant
(synonymous variant +1 more)
DiGeorge syndrome
+4 more
GConflicting classifications of pathogenicity
TBX1
(G350D +1 more)
Single nucleotide variant
(missense variant +1 more)
Conotruncal heart malformations
+6 more
GConflicting classifications of pathogenicity
TBX1
(H194Q +1 more)
Single nucleotide variant
(missense variant)
Velocardiofacial syndrome
GPathogenic
TBX1
(P444fs +1 more)
Deletion
(frameshift variant +1 more)
Velocardiofacial syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination