"SYT2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2635334	NM_177402.5(SYT2):c.1230G>C (p.Glu410Asp)	SYT2 (E410D)	Single nucleotide variant (missense variant)	SYT2-related disorder	GUncertain significance
Select item 2985381	NM_177402.5(SYT2):c.1215C>G (p.Leu405=)	SYT2	Single nucleotide variant (synonymous variant)	SYT2-related disorder +1 more	GLikely benign
Select item 1925213	NM_177402.5(SYT2):c.981C>T (p.Thr327=)	SYT2	Single nucleotide variant (synonymous variant)	SYT2-related disorder +1 more	GLikely benign
Select item 1567367	NM_177402.5(SYT2):c.920-4G>A	SYT2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2168565	NM_177402.5(SYT2):c.465+4T>C	SYT2	Single nucleotide variant (intron variant)	SYT2-related disorder +1 more	GLikely benign
Select item 2631391	NM_177402.5(SYT2):c.179-1G>A	SYT2	Single nucleotide variant (splice acceptor variant)	SYT2-related disorder	GLikely pathogenic
Select item 1599845	NM_177402.5(SYT2):c.57C>T (p.Thr19=)	SYT2	Single nucleotide variant (synonymous variant)	SYT2-related disorder +1 more	GBenign/Likely benign
Select item 1422328	NM_177402.5(SYT2):c.2T>C (p.Met1Thr)	SYT2 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

ClinVar