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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYT2
(V70fs)
Deletion
(frameshift variant)
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
GLikely pathogenic
SYT2
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 7
+2 more
GBenign
SYT2
Single nucleotide variant
(synonymous variant)
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
+2 more
GBenign/Likely benign
SYT2
(V243fs)
Duplication
(frameshift variant)
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
GPathogenic
SYT2
Single nucleotide variant
(splice donor variant)
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
GPathogenic
SYT2
(R397fs)
Deletion
(frameshift variant)
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
GPathogenic
SYT2
(E269*)
Single nucleotide variant
(nonsense)
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
GPathogenic
SYT2
Deletion
(intron variant)
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
+2 more
GBenign/Likely benign
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