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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001226, LOC130001227
+1407 more
Copy number gain
See cases
GPathogenic
KCNK9, LOC124188239
(R36H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC124188239, KCNK9
(D27A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNK9, LOC124188239
(L9V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNK9, LOC124188239
(N5S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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