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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBXAS1
(W135* +6 more)
Single nucleotide variant
(nonsense)
Ghosal hematodiaphyseal dysplasia
GUncertain significance
TBXAS1
(N39H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
TBXAS1
(R208Q +6 more)
Single nucleotide variant
(missense variant)
Ghosal hematodiaphyseal dysplasia
GUncertain significance
TBXAS1
(H220Y +4 more)
Single nucleotide variant
(missense variant)
Ghosal hematodiaphyseal dysplasia
GLikely pathogenic
TBXAS1
(N178S +4 more)
Single nucleotide variant
(missense variant)
Ghosal hematodiaphyseal dysplasia
+2 more
GConflicting classifications of pathogenicity
TBXAS1
(E352K +4 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TBXAS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TBXAS1
(Y460C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TBXAS1
(A407T +4 more)
Single nucleotide variant
(missense variant +1 more)
Ghosal hematodiaphyseal dysplasia
GUncertain significance
TBXAS1
(E65* +1 more)
Single nucleotide variant
(nonsense +2 more)
Ghosal hematodiaphyseal dysplasia
GPathogenic
TBXAS1
(E12fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
TBXAS1
(V227M +4 more)
Single nucleotide variant
(missense variant)
Ghosal hematodiaphyseal dysplasia
+1 more
GBenign/Likely benign
TBXAS1
(A175fs +4 more)
Deletion
(frameshift variant)
Thromboxane synthetase deficiency
+1 more
GLikely pathogenic
TBXAS1
(G406W +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
TBXAS1
(L289V +4 more)
Single nucleotide variant
(missense variant)
Ghosal hematodiaphyseal dysplasia
+2 more
GBenign
TBXAS1
(A197S +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBXAS1
(A407fs +4 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TBXAS1
(R345Q +4 more)
Single nucleotide variant
(missense variant)
Ghosal hematodiaphyseal dysplasia
+1 more
GConflicting classifications of pathogenicity
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