ClinVar for MedGen (Select 419137) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440154	NM_003418.5(CNBP):c.156C>A (p.Asp52Glu)	CNBP (D45E +1 more)	Single nucleotide variant (missense variant)	Myotonic dystrophy type 2	GUncertain significance
Select item 1217358	NM_003418.5(CNBP):c.156C>T (p.Asp52=)	CNBP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 17564	NM_003418.5(CNBP):c.-14-833_-14-806CCTG[(75_11000)]	CNBP, LOC108644431	Microsatellite	Myotonic dystrophy type 2	GPathogenic

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