"Genomic Medicine Lab, University of California San Francisco"[submitt - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1706575	NM_182961.4(SYNE1):c.23283G>A (p.Trp7761Ter)	SYNE1 (W7690* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 3, myogenic type	GPathogenic
Select item 1706574	NM_182961.4(SYNE1):c.18955C>T (p.Gln6319Ter)	SYNE1 (Q6248* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 3, myogenic type	GPathogenic