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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860199, TBXAS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LOC126860199, TBXAS1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
TBXAS1
(R60L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TBXAS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TBXAS1
(E65K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TBXAS1
(L3F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TBXAS1
(W46* +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TBXAS1
(L15P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TBXAS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
TBXAS1
(D55N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBXAS1
(P141R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TBXAS1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TBXAS1
(I264T +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBXAS1
(L289V +4 more)
Single nucleotide variant
(missense variant)
Ghosal hematodiaphyseal dysplasia
+2 more
GBenign
TBXAS1
(E320K +4 more)
Single nucleotide variant
(missense variant)
TBXAS1-related condition
+1 more
GConflicting classifications of pathogenicity
TBXAS1
(E382K +4 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
TBXAS1
(T383N +4 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
TBXAS1
(R398Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
TBXAS1
(A407fs +4 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TBXAS1
(E440V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
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