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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNK9
(S352R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNK9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KCNK9
(R268H)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
KCNK9
(R131C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNK9, LOC124188239
(L29R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LY6E, LY6H
+173 more
Copy number gain
not provided
GPathogenic
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