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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BTD
(M66R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
BTD
Deletion
(intron variant)
Biotinidase deficiency
GPathogenic/Likely pathogenic
BTD
(T132R +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
BTD
(R189H)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
+2 more
GPathogenic
BTD
(D208G)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GPathogenic
BTD
(T214I)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GPathogenic/Likely pathogenic
BTD
(N280H)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
BTD
(C438fs)
Duplication
(frameshift variant +1 more)
Biotinidase deficiency
GPathogenic
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