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Links from Gene

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYT1L
(E248D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYT1L
Deletion
(intron variant)
not provided
GUncertain significance
MYT1L
(Q1177H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MYT1L
(P23R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYT1L
(N776S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYT1L
(A886V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYT1L
Deletion
Intellectual disability, autosomal dominant 39
GLikely pathogenic
MYT1L
Copy number gain
not provided
GUncertain significance
MYT1L
Copy number loss
not specified
GUncertain significance
MYT1L
Copy number gain
not specified
GUncertain significance
MYT1L
(G475R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 39
GUncertain significance
MYT1L
(C756* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 39
GLikely pathogenic
MYT1L
(E872D +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 39
GUncertain significance
MYT1L
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 39
GUncertain significance
MYT1L
(M1003T +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 39
GUncertain significance
MYT1L
(M426V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 39
GUncertain significance
MYT1L
(M763V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 39
GUncertain significance
MYT1L
(K1064Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 39
GUncertain significance
MYT1L
(R891* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 39
GPathogenic
MYT1L
(R394T)
Single nucleotide variant
(missense variant)
Autism spectrum disorder
GLikely benign
MYT1L
(E343D)
Single nucleotide variant
(missense variant)
Autism spectrum disorder
GLikely benign
MYT1L
Copy number loss
not provided
GUncertain significance
MYT1L
Copy number loss
not provided
GUncertain significance
MYT1L
(Y197*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 39
GPathogenic
MYT1L
(G916fs +1 more)
Deletion
(frameshift variant)
Neurodevelopmental delay
GLikely pathogenic
MYT1L
(E948fs +1 more)
Deletion
(frameshift variant)
Neurodevelopmental delay
GLikely pathogenic
MYT1L
Single nucleotide variant
(5 prime UTR variant)
Intellectual disability, autosomal dominant 39
GUncertain significance
MYT1L, MYT1L-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Intellectual disability, autosomal dominant 39
GUncertain significance
MYT1L
(I1175V +1 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability, autosomal dominant 39
GUncertain significance
MYT1L
(N228D)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely pathogenic
MYT1L
Copy number gain
not provided
GLikely pathogenic
MYT1L
Duplication
Intellectual disability, autosomal dominant 39
GUncertain significance
MYT1L
(E811K +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely benign
MYT1L
Single nucleotide variant
(intron variant)
Intellectual disability
GLikely benign
MYT1L
(E153D)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely benign
MYT1L
(A940T +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 39
GUncertain significance
MYT1L
Copy number loss
not provided
GPathogenic
MYT1L
Copy number gain
not provided
GUncertain significance
MYT1L
Copy number loss
not provided
GPathogenic
MYT1L
Copy number gain
not provided
GLikely pathogenic
MYT1L
Copy number loss
not provided
GLikely pathogenic
MYT1L
(D254fs)
Duplication
(frameshift variant)
Intellectual disability, autosomal dominant 39
GPathogenic
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