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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC5A2
(I76N)
Single nucleotide variant
(missense variant +1 more)
Familial renal glucosuria
GUncertain significance
SLC5A2
(T124M)
Single nucleotide variant
(missense variant +1 more)
Familial renal glucosuria
GUncertain significance
SLC5A2
(I151L)
Single nucleotide variant
(missense variant +1 more)
Familial renal glucosuria
GUncertain significance
LOC130058907, SLC5A2
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SLC5A2
(R336H)
Single nucleotide variant
(missense variant +1 more)
Familial renal glucosuria
GUncertain significance
SLC5A2
Deletion
(inframe_deletion)
not provided
GUncertain significance
SLC5A2
(E421K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC5A2
Single nucleotide variant
(synonymous variant)
Familial renal glucosuria
GUncertain significance
SLC5A2
(V431fs)
Deletion
(frameshift variant)
Familial renal glucosuria
GPathogenic
SLC5A2
(G449C)
Single nucleotide variant
(missense variant)
Familial renal glucosuria
GLikely pathogenic
SLC5A2
(G484D)
Single nucleotide variant
(missense variant +1 more)
Familial renal glucosuria
GLikely pathogenic
SLC5A2
(I551T)
Single nucleotide variant
(missense variant +1 more)
Familial renal glucosuria
GUncertain significance
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