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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BTD
(L186R +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GUncertain significance
BTD
(R189H)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
+2 more
GPathogenic
BTD
(L195F)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GPathogenic
BTD
(D424H)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
+2 more
GPathogenic/Likely pathogenic
BTD
(Q436H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
BTD
(T512M)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
+1 more
GPathogenic
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