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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC34A1
(A48F)
Indel
(missense variant)
Hypophosphatemic nephrolithiasis/osteoporosis 1
GPathogenic
SLC34A1
Deletion
(inframe_deletion)
not provided
+3 more
GConflicting classifications of pathogenicity
SLC34A1
(V147M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC34A1
(G153V)
Single nucleotide variant
(missense variant)
Hypercalcemia, infantile, 2
+4 more
GLikely pathogenic
SLC34A1
Single nucleotide variant
(splice donor variant)
Hypercalcemia, infantile, 2
+2 more
GConflicting classifications of pathogenicity
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