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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC16A2
(S33P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GBenign
SLC16A2
(S120F)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
Gnot provided
SLC16A2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
SLC16A2
(L360W)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(L418P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SLC16A2
(F427del)
Microsatellite
(inframe_deletion)
Allan-Herndon-Dudley syndrome
Gnot provided
SLC16A2
(L494P)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(P538fs)
Deletion
(frameshift variant)
Allan-Herndon-Dudley syndrome
GPathogenic
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