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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCSH
(E122K)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
GUncertain significance
GCSH
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
GCSH, LOC130059495
(A18V)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
+1 more
GConflicting classifications of pathogenicity
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