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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHM
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
CHM
(A307fs +1 more)
Deletion
(frameshift variant)
CHM-related disorder
+2 more
GPathogenic
CHM
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CHM
Single nucleotide variant
(synonymous variant)
CHM-related disorder
+1 more
GLikely benign
LOC129391306, CHM
Single nucleotide variant
(synonymous variant +1 more)
CHM-related disorder
+1 more
GLikely benign
CHM, LOC129391306
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
CHM
(G44*)
Single nucleotide variant
(nonsense +1 more)
CHM-related disorder
+1 more
GPathogenic
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