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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SARM1, SLC46A1
(P425R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
SARM1, SLC46A1
(R376Q)
Single nucleotide variant
(missense variant +2 more)
Congenital defect of folate absorption
+1 more
GConflicting classifications of pathogenicity
SARM1, SLC46A1
(R376W)
Single nucleotide variant
(missense variant +2 more)
Congenital defect of folate absorption
GPathogenic
SARM1, SLC46A1
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
+2 more
GPathogenic
SLC46A1
(S318R)
Single nucleotide variant
(missense variant)
Congenital defect of folate absorption
GPathogenic
SLC46A1
(G147R)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
SLC46A1
(R113S)
Single nucleotide variant
(missense variant)
Congenital defect of folate absorption
GPathogenic
SLC46A1
(G65fs)
Deletion
(frameshift variant)
not provided
GPathogenic
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