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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMT, NICN1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NICN1, AMT
(S6fs)
Duplication
(frameshift variant +2 more)
Non-ketotic hyperglycinemia
+1 more
GPathogenic
AMT, NICN1
(V5L)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
AMT, NICN1
Single nucleotide variant
(3 prime UTR variant)
not provided
GConflicting classifications of pathogenicity
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