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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OSTM1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
OSTM1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
LOC129996933, OSTM1
(D45G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC129996933, OSTM1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LOC129996933, OSTM1
Single nucleotide variant
(synonymous variant)
Autosomal recessive osteopetrosis 5
+2 more
GConflicting classifications of pathogenicity
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