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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931894, SLC19A2
(L57P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
(P51L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
(E50*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
(A44T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
(A35V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
(P33Q)
Single nucleotide variant
(missense variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+2 more
GUncertain significance
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Inversion
(nonsense)
not provided
GPathogenic
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
(R26L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC129931894, SLC19A2
(R26H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
(V18L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LOC129931894, SLC19A2
(V18M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Microsatellite
(inframe_insertion)
not provided
GConflicting classifications of pathogenicity
LOC129931894, SLC19A2
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
LOC129931894, SLC19A2
(A16del)
Microsatellite
(inframe_deletion)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+1 more
GUncertain significance
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
(A11S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+1 more
GConflicting classifications of pathogenicity
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129931894, SLC19A2
(P4R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129931894, SLC19A2
(D2G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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