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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STK36
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
STK36
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
STK36
(R497G)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
STK36
(R839Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
STK36
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
STK36
(S1259P +1 more)
Single nucleotide variant
(missense variant)
STK36-related condition
+1 more
GLikely benign
IRS1, KCNE4
+77 more
Copy number loss
not provided
GLikely pathogenic
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