"GeneDx"[submitter] AND "LOC126859836"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262182	NM_182961.4(SYNE1):c.21656+13T>C	LOC126859836, SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +2 more	GBenign
Select item 287660	NM_182961.4(SYNE1):c.21639G>A (p.Leu7213=)	LOC126859836, SYNE1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 471024	NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met)	LOC126859836, SYNE1 (V7205M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 388782	NM_182961.4(SYNE1):c.21591A>G (p.Leu7197=)	LOC126859836, SYNE1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 282236	NM_182961.4(SYNE1):c.21523-8T>G	LOC126859836, SYNE1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 670201	NM_182961.4(SYNE1):c.21523-174C>A	LOC126859836, SYNE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683970	NM_182961.4(SYNE1):c.21523-268A>G	LOC126859836, SYNE1	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar