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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC16A1
(P14fs)
Deletion
(frameshift variant)
Ketoacidosis due to monocarboxylate transporter-1 deficiency
GLikely pathogenic
SLC16A1
Microsatellite
(intron variant)
Exercise-induced hyperinsulinism
+3 more
GBenign/Likely benign
SLC16A1
Single nucleotide variant
(intron variant)
SLC16A1-related disorder
+3 more
GBenign
SLC16A1
(A360fs)
Deletion
(frameshift variant)
Ketoacidosis due to monocarboxylate transporter-1 deficiency
GLikely pathogenic
SLC16A1
(I325V)
Single nucleotide variant
(missense variant)
Ketoacidosis due to monocarboxylate transporter-1 deficiency
+4 more
GBenign/Likely benign
SLC16A1
(N250fs)
Deletion
(frameshift variant)
Ketoacidosis due to monocarboxylate transporter-1 deficiency
+1 more
GPathogenic/Likely pathogenic
SLC16A1
(D15fs)
Duplication
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC16A1, SLC16A1-AS1
(R313*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SLC16A1
(D490E)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
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