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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMT
Deletion
(nonsense +1 more)
Non-ketotic hyperglycinemia
+1 more
GPathogenic
AMT
(R320H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
AMT
(R296C +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
+1 more
GPathogenic/Likely pathogenic
AMT
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic
AMT
(R265C +2 more)
Single nucleotide variant
(missense variant +1 more)
Glycine encephalopathy 1
+1 more
GConflicting classifications of pathogenicity
AMT
(R178H +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
+3 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
(Q192* +2 more)
Single nucleotide variant
(nonsense +1 more)
Non-ketotic hyperglycinemia
+1 more
GPathogenic/Likely pathogenic
AMT
(L172P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
AMT
Deletion
(inframe_deletion +2 more)
Neurodevelopmental delay
+4 more
GPathogenic/Likely pathogenic
AMT
(N145I +1 more)
Single nucleotide variant
(missense variant +2 more)
Glycine encephalopathy 1
+1 more
GLikely pathogenic
AMT
(R94W +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycine encephalopathy 1
+1 more
GPathogenic/Likely pathogenic
AMT
(I89fs +1 more)
Duplication
(frameshift variant +1 more)
Glycine encephalopathy 1
+1 more
GPathogenic/Likely pathogenic
AMT
Single nucleotide variant
(splice acceptor variant)
Glycine encephalopathy 1
GLikely pathogenic
AMT
(S77L)
Single nucleotide variant
(missense variant +2 more)
Glycine encephalopathy 1
+2 more
GPathogenic/Likely pathogenic
AMT
(R73C)
Single nucleotide variant
(missense variant +2 more)
See cases
+4 more
GPathogenic/Likely pathogenic
AMT
(H71P)
Single nucleotide variant
(missense variant +2 more)
Glycine encephalopathy 1
+1 more
GConflicting classifications of pathogenicity
AMT
Deletion
(nonsense +2 more)
Glycine encephalopathy 1
+1 more
GPathogenic/Likely pathogenic
AMT
(G47R)
Single nucleotide variant
(missense variant +2 more)
Glycine encephalopathy 1
+2 more
GConflicting classifications of pathogenicity
AMT
(H42R)
Single nucleotide variant
(missense variant +2 more)
Glycine encephalopathy 1
+1 more
GPathogenic/Likely pathogenic
AMT
Single nucleotide variant
(intron variant +1 more)
Glycine encephalopathy 1
GLikely pathogenic
AMT, NICN1
(Q16*)
Single nucleotide variant
(nonsense +2 more)
Non-ketotic hyperglycinemia
+1 more
GPathogenic
AMT, NICN1
(S6fs)
Duplication
(frameshift variant +2 more)
Non-ketotic hyperglycinemia
+2 more
GPathogenic/Likely pathogenic
AMT, NICN1
Single nucleotide variant
(3 prime UTR variant)
Glycine encephalopathy 1
+2 more
GConflicting classifications of pathogenicity
GLDC
(R739H)
Single nucleotide variant
(missense variant)
Non-ketotic hyperglycinemia
+1 more
GPathogenic/Likely pathogenic
GLDC
(R515S)
Single nucleotide variant
(missense variant)
Non-ketotic hyperglycinemia
+5 more
GPathogenic
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