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Links from MedGen

Items: 1 to 100 of 842

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHAT
Single nucleotide variant
(splice acceptor variant)
Familial infantile myasthenia
GLikely pathogenic
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial infantile myasthenia
GLikely benign
CHAT
Deletion
(intron variant)
Familial infantile myasthenia
GBenign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
(R19G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial infantile myasthenia
GUncertain significance
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
(R442C +2 more)
Single nucleotide variant
(missense variant)
Familial infantile myasthenia
GLikely pathogenic
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant +2 more)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
(N212fs +2 more)
Deletion
(frameshift variant)
Familial infantile myasthenia
GPathogenic
CHAT
Microsatellite
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
CHAT-related disorder
+1 more
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Microsatellite
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Duplication
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant +2 more)
Familial infantile myasthenia
GLikely benign
CHAT
(D539E +2 more)
Single nucleotide variant
(missense variant)
Familial infantile myasthenia
GUncertain significance
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(splice donor variant)
Familial infantile myasthenia
GLikely pathogenic
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Deletion
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
(P630A +2 more)
Single nucleotide variant
(missense variant)
Familial infantile myasthenia
GLikely benign
CHAT
(G56S +2 more)
Single nucleotide variant
(missense variant)
Familial infantile myasthenia
GUncertain significance
CHAT
(V612L +2 more)
Single nucleotide variant
(missense variant)
Familial infantile myasthenia
GUncertain significance
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
GLikely benign
CHAT
Deletion
(intron variant)
Familial infantile myasthenia
GLikely benign
CHAT
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial infantile myasthenia
GLikely benign
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