"Ambry Genetics"[submitter] AND "MBNL2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2304917	NM_001382683.1(MBNL2):c.119C>G (p.Pro40Arg)	MBNL2 (P40R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2329270	NM_001382683.1(MBNL2):c.167C>T (p.Ser56Phe)	MBNL2 (S56F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2296884	NM_001382683.1(MBNL2):c.259T>G (p.Leu87Val)	MBNL2 (L44V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483084	NM_001382683.1(MBNL2):c.521T>C (p.Leu174Pro)	MBNL2 (L79P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534271	NM_001382683.1(MBNL2):c.632G>A (p.Ser211Asn)	MBNL2 (S168N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2545471	NM_001382683.1(MBNL2):c.790G>T (p.Ala264Ser)	MBNL2 (A169S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387194	NM_001382683.1(MBNL2):c.926G>A (p.Ser309Asn)	MBNL2 (S248N +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar