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Links from MedGen

Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126859827, TAB2
(K308fs +1 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 2
GPathogenic
TAB2
(S548* +1 more)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 2
GLikely pathogenic
LOC126859827, TAB2
(A499fs +1 more)
Indel
(frameshift variant)
Congenital heart defects, multiple types, 2
GLikely pathogenic
LOC126859827, TAB2
(R484fs +1 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 2
GPathogenic
LOC126859827, TAB2
(D476fs +1 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 2
GLikely pathogenic
LOC126859827, TAB2
(I337fs +1 more)
Duplication
(frameshift variant)
Congenital heart defects, multiple types, 2
GPathogenic
LOC126859827, TAB2
(S492fs +1 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 2
GPathogenic
LOC126859827, TAB2
(E469* +1 more)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 2
GLikely pathogenic
LOC126859827, TAB2
(S321fs +1 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 2
GPathogenic
TAB2
(H126fs +1 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 2
GPathogenic
LOC126859827, TAB2
(S495F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TAB2
(H6R)
Single nucleotide variant
(missense variant +1 more)
Congenital heart defects, multiple types, 2
GUncertain significance
LOC126859827, TAB2
(P446fs +1 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 2
GLikely pathogenic
LOC126859827, TAB2
(T456fs +1 more)
Duplication
(frameshift variant)
Congenital heart defects, multiple types, 2
GPathogenic
TAB2
(I36T +1 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 2
+1 more
GUncertain significance
TAB2
(P151L +1 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 2
GLikely pathogenic
LOC126859827, TAB2
(R310H +1 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 2
+2 more
GUncertain significance
LOC126859827, TAB2
(Y465* +1 more)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 2
GPathogenic
LOC126859827, TAB2
(Y336* +1 more)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 2
GLikely pathogenic
TAB2
Single nucleotide variant
(synonymous variant +1 more)
Congenital heart defects, multiple types, 2
+1 more
GBenign/Likely benign
LOC126859827, TAB2
(R420* +1 more)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 2
+2 more
GPathogenic
LOC126859827, TAB2
(A480G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC126859827, TAB2
(S415fs +1 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC126859827, TAB2
(Q240* +1 more)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 2
GLikely pathogenic
TAB2
(S149* +1 more)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 2
GPathogenic
LOC126859827, TAB2
(P353L +1 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 2
GUncertain significance
TAB2
(R64K +1 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 2
+1 more
GUncertain significance
TAB2
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
LOC126859827, TAB2
(T435fs +1 more)
Duplication
(frameshift variant)
Congenital heart defects, multiple types, 2
GPathogenic
TAB2
(P176fs +1 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 2
GPathogenic
LOC126859827, TAB2
(P477fs +1 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 2
GLikely pathogenic
TAB2
(A116fs +1 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 2
GUncertain significance
LOC126859827, TAB2
(R227* +1 more)
Single nucleotide variant
(nonsense)
TAB2-related disorder
+3 more
GPathogenic/Likely pathogenic
LOC126859827, TAB2
(Y497* +1 more)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 2
GPathogenic
TAB2
(C684Y +1 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 2
GUncertain significance
LOC126859827, TAB2
(R441* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
LOC126859827, TAB2
(S261fs +1 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 2
GLikely pathogenic
LOC126859827, TAB2
(Q230K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(P208S +1 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 2
GPathogenic
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