U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 719

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2CL, AMIGO3
+379 more
Copy number gain
See cases
GPathogenic
AMT, C3orf62
+29 more
Copy number gain
See cases
GUncertain significance
AMT
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
AMT
Single nucleotide variant
(3 prime UTR variant +1 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
Single nucleotide variant
(3 prime UTR variant +1 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
Single nucleotide variant
(3 prime UTR variant +1 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
AMT
Single nucleotide variant
(3 prime UTR variant +1 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
Single nucleotide variant
(3 prime UTR variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(3 prime UTR variant +1 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
Single nucleotide variant
(3 prime UTR variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
Single nucleotide variant
(3 prime UTR variant +2 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
AMT
(K347fs +2 more)
Deletion
(frameshift variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
Single nucleotide variant
(synonymous variant +2 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(L358del +2 more)
Deletion
(inframe_deletion +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(L346F +2 more)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
Single nucleotide variant
(synonymous variant +2 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(T345N +2 more)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(Y344fs +2 more)
Indel
(frameshift variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(Y400S +2 more)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(Y400C +2 more)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(Y356H +2 more)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
Single nucleotide variant
(intron variant +2 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(synonymous variant +2 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(T397K +2 more)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(P352L +2 more)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(F350S +2 more)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
Single nucleotide variant
(synonymous variant +2 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(V332I +2 more)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(M386T +2 more)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(Q385H +2 more)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(Q385del +2 more)
Microsatellite
(inframe_deletion +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(Q385* +2 more)
Single nucleotide variant
(nonsense +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(R382Q +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GConflicting classifications of pathogenicity
AMT
(R337Q +2 more)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
+1 more
GUncertain significance
AMT
Single nucleotide variant
(synonymous variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(R381W +2 more)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
Single nucleotide variant
(synonymous variant +2 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(V324M +2 more)
Single nucleotide variant
(missense variant +2 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(E335A +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
+2 more
GUncertain significance
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(M331T +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(R371H +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
+1 more
GConflicting classifications of pathogenicity
AMT
(R315C +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(S370G +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
Deletion
(nonsense +1 more)
Non-ketotic hyperglycinemia
+1 more
GPathogenic
AMT
(Y313C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(E324* +2 more)
Single nucleotide variant
(nonsense +1 more)
Non-ketotic hyperglycinemia
GPathogenic
AMT
(C311* +2 more)
Single nucleotide variant
(nonsense +1 more)
Non-ketotic hyperglycinemia
GPathogenic
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(C311G +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(P310L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(G363S +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
GLikely pathogenic
AMT
(G363R +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
+1 more
GConflicting classifications of pathogenicity
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(A361V +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
+1 more
GUncertain significance
AMT
(V316fs +2 more)
Microsatellite
(frameshift variant +1 more)
Non-ketotic hyperglycinemia
GPathogenic
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(K302del +2 more)
Microsatellite
(inframe_deletion +1 more)
Glycine encephalopathy 1
+1 more
GConflicting classifications of pathogenicity
AMT
(N315T +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(K314T +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(L300fs +2 more)
Microsatellite
(frameshift variant +1 more)
Non-ketotic hyperglycinemia
GLikely pathogenic
AMT
(S299fs +2 more)
Duplication
(frameshift variant +1 more)
Non-ketotic hyperglycinemia
GLikely pathogenic
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(P310S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(S297Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
GLikely pathogenic
AMT
(S309fs +2 more)
Deletion
(frameshift variant +1 more)
Non-ketotic hyperglycinemia
GPathogenic/Likely pathogenic
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
(T348fs +2 more)
Duplication
(frameshift variant +1 more)
Non-ketotic hyperglycinemia
GPathogenic
AMT
(V303A +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
(V291L +2 more)
Single nucleotide variant
(missense variant +1 more)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
Single nucleotide variant
(synonymous variant +1 more)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Duplication
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
AMT
Single nucleotide variant
(splice acceptor variant)
Non-ketotic hyperglycinemia
GUncertain significance
AMT
Single nucleotide variant
(intron variant)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(intron variant)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(intron variant)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(intron variant)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(intron variant)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Duplication
(intron variant)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(intron variant)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(intron variant)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(intron variant)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(intron variant)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(intron variant)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(intron variant)
Non-ketotic hyperglycinemia
GLikely benign
AMT
Single nucleotide variant
(intron variant)
Glycine encephalopathy 2
GUncertain significance
AMT
Duplication
(splice donor variant)
Non-ketotic hyperglycinemia
GUncertain significance
Format
Items per page
Sort by
Choose Destination