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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SARM1, SLC46A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital defect of folate absorption
GUncertain significance
SARM1, SLC46A1
(F420L +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital defect of folate absorption
+1 more
GUncertain significance
SLC46A1
Deletion
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC46A1
(Y208F)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SLC46A1
(R114L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC46A1
(F99L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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