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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BTD
(C13fs)
Indel
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
BTD
(A151T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
BTD
(D424H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
BTD
(Q436H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BTD
(R518C)
Single nucleotide variant
(missense variant +1 more)
BTD-related condition
+3 more
GPathogenic
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