C4760576[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304968	NM_005055.5(RAPSN):c.*57C>T	RAPSN	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 11 +3 more	GBenign
Select item 130089	NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +4 more	GBenign
Select item 259623	NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +4 more	GConflicting classifications of pathogenicity
Select item 130092	NM_005055.5(RAPSN):c.855G>A (p.Gln285=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 11 +4 more	GBenign
Select item 197249	NM_005055.5(RAPSN):c.691-11del	RAPSN	Deletion (intron variant)	Fetal akinesia deformation sequence 2 +5 more	GBenign
Select item 130091	NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)	RAPSN	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 259627	NM_005055.5(RAPSN):c.193-15C>T	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +4 more	GBenign
Select item 130090	NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)	RAPSN (R58C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +4 more	GBenign/Likely benign

ClinVar