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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHAT
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GBenign
CHAT
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GBenign
CHAT
(E20fs)
Microsatellite
(5 prime UTR variant +2 more)
not specified
+2 more
GConflicting classifications of pathogenicity
CHAT
(R29*)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GPathogenic
CHAT
(G43R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial infantile myasthenia
+1 more
GUncertain significance
CHAT
(D47E)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+1 more
GBenign
CHAT
(A95E)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
CHAT
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial infantile myasthenia
+1 more
GBenign/Likely benign
CHAT
(A120T +2 more)
Single nucleotide variant
(missense variant)
Familial infantile myasthenia
+1 more
GBenign/Likely benign
CHAT
(V136M +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CHAT
(Q140* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CHAT
Single nucleotide variant
(synonymous variant)
CHAT-related condition
+2 more
GBenign/Likely benign
CHAT
(R89H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CHAT
(S161del +2 more)
Microsatellite
(inframe_deletion)
Familial infantile myasthenia
+1 more
GConflicting classifications of pathogenicity
CHAT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
+1 more
GConflicting classifications of pathogenicity
CHAT
(E245K +2 more)
Single nucleotide variant
(missense variant)
Familial infantile myasthenia
+1 more
GConflicting classifications of pathogenicity
CHAT
(D261H +2 more)
Single nucleotide variant
(missense variant)
Familial infantile myasthenia
+2 more
GBenign/Likely benign
CHAT
(G292S +2 more)
Single nucleotide variant
(missense variant)
Familial infantile myasthenia
+1 more
GUncertain significance
CHAT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHAT
(L340F +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
CHAT
(V343M +2 more)
Single nucleotide variant
(no sequence alteration +1 more)
not specified
+1 more
GBenign
CHAT
(R386Q +2 more)
Single nucleotide variant
(missense variant)
Familial infantile myasthenia
+1 more
GUncertain significance
CHAT
Single nucleotide variant
(synonymous variant)
Familial infantile myasthenia
+1 more
GBenign
CHAT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHAT
(V473M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CHAT
(T490N +2 more)
Single nucleotide variant
(missense variant)
Familial infantile myasthenia
+1 more
GUncertain significance
CHAT
(R510Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHAT
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
CHAT
(L606P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHAT
(R741K +2 more)
Single nucleotide variant
(missense variant)
Familial infantile myasthenia
+1 more
GConflicting classifications of pathogenicity
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