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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NBAS
(D2264H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
NBAS
(R1697L)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
NBAS
(T1410A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NBAS
(R1073C)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
NBAS
(V1046M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NBAS
(I984fs)
Deletion
(frameshift variant +1 more)
Infantile liver failure
+4 more
GPathogenic/Likely pathogenic
NBAS
(P389L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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