ClinVar for MedGen (Select 1794157) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2505353	NM_177402.5(SYT2):c.207del (p.Val70fs)	SYT2 (V70fs)	Deletion (frameshift variant)	Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive	GLikely pathogenic
Select item 1295576	NM_177402.5(SYT2):c.117C>T (p.Ser39=)	SYT2	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 7 +2 more	GBenign
Select item 1200856	NM_177402.5(SYT2):c.804G>A (p.Pro268=)	SYT2	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive +2 more	GBenign/Likely benign
Select item 1192317	NM_177402.5(SYT2):c.725dup (p.Val243fs)	SYT2 (V243fs)	Duplication (frameshift variant)	Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive	GPathogenic
Select item 1192316	NM_177402.5(SYT2):c.465+1G>A	SYT2	Single nucleotide variant (splice donor variant)	Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive	GPathogenic
Select item 1192315	NM_177402.5(SYT2):c.1191del (p.Arg397fs)	SYT2 (R397fs)	Deletion (frameshift variant)	Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive	GPathogenic
Select item 1192314	NM_177402.5(SYT2):c.805G>T (p.Glu269Ter)	SYT2 (E269*)	Single nucleotide variant (nonsense)	Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive	GPathogenic
Select item 445706	NM_177402.5(SYT2):c.465+20_465+21del	SYT2	Deletion (intron variant)	Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive +2 more	GBenign/Likely benign