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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BTD
Single nucleotide variant
(splice donor variant +1 more)
Biotinidase deficiency
GPathogenic/Likely pathogenic
BTD
(C13fs)
Indel
(frameshift variant)
not provided
+1 more
GPathogenic
BTD
(V17M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BTD
(R79C +1 more)
Single nucleotide variant
(missense variant)
Biotinidase deficiency
+1 more
GPathogenic/Likely pathogenic
BTD
(P107L +2 more)
Single nucleotide variant
(missense variant)
Biotinidase deficiency
GConflicting classifications of pathogenicity
BTD
(P126R +2 more)
Single nucleotide variant
(missense variant)
Biotinidase deficiency
GUncertain significance
BTD
(R128H +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
BTD
(A151T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
BTD
(K156N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic
BTD
(V179M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
BTD
(N182S)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GUncertain significance
BTD
(R191C)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
+1 more
GConflicting classifications of pathogenicity
BTD
(T214I)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GPathogenic/Likely pathogenic
BTD
(D232G)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
+1 more
GPathogenic
BTD
(S291fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BTD
(N329T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
BTD
(N382S)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
+2 more
GUncertain significance
BTD
(V388A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
BTD
Deletion
(intron variant)
Biotinidase deficiency
+1 more
GPathogenic/Likely pathogenic
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)
Biotinidase deficiency
+2 more
GPathogenic/Likely pathogenic
BTD
(G460E)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GConflicting classifications of pathogenicity
BTD
(T512M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
BTD
(R518C)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
+2 more
GPathogenic
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