C1853116[trait identifier] AND "Solve-RD Consortium"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184951	NM_182961.4(SYNE1):c.24814C>T (p.Arg8272Ter)	SYNE1 (R427* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3256786	NM_182961.4(SYNE1):c.23146-2A>G	SYNE1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 3256785	NM_182961.4(SYNE1):c.22045-2A>G	SYNE1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 3338093	NM_182961.4(SYNE1):c.13567_13570del (p.Glu4523fs)	SYNE1 (E4452fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 3338086	NM_182961.4(SYNE1):c.10295_10299del (p.Ala3432fs)	SYNE1 (A3432fs +1 more)	Deletion (frameshift variant)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 915366	NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter)	SYNE1 (R3070* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1454968	NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter)	SYNE1 (Q1512* +1 more)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic

ClinVar