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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SAMD9
(D1218*)
Duplication
(nonsense)
MIRAGE syndrome
+5 more
GBenign/Likely benign
SAMD9
(I1135V)
Single nucleotide variant
(missense variant)
Normophosphatemic familial tumoral calcinosis
+4 more
GUncertain significance
SAMD9
(N1003S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GLikely benign
SAMD9
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
SAMD9
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
SAMD9
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
SAMD9
(N10fs)
Deletion
(frameshift variant)
MIRAGE syndrome
+3 more
GUncertain significance
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