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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMT
(A361V +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
+1 more
GUncertain significance
AMT
(M286fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
AMT
(A272fs +2 more)
Indel
(frameshift variant +1 more)
Non-ketotic hyperglycinemia
GLikely pathogenic
AMT
(R320H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
AMT
(R297Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(R241* +2 more)
Single nucleotide variant
(nonsense +1 more)
Non-ketotic hyperglycinemia
GPathogenic/Likely pathogenic
AMT
(R296C +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
+1 more
GPathogenic/Likely pathogenic
AMT
(N275K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
AMT
(R222C +2 more)
Single nucleotide variant
(missense variant +1 more)
Glycine encephalopathy 1
+1 more
GPathogenic/Likely pathogenic
AMT
(V212A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
AMT
Deletion
(inframe_deletion +2 more)
Neurodevelopmental delay
+4 more
GPathogenic/Likely pathogenic
AMT
(A146T +1 more)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
+1 more
GUncertain significance
AMT
(V95M +1 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
GConflicting classifications of pathogenicity
AMT
(R73H)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(H65R)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT, NICN1
(R10H)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
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