C0557874[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 37134	NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	NMNAT1 (E257K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 872919	NM_001384.5(DPH2):c.601C>T (p.Arg201Cys)	DPH2, LOC126805726 (R125C +4 more)	Single nucleotide variant (missense variant +1 more)	Ventricular septal defect +3 more	GConflicting classifications of pathogenicity
Select item 872918	NM_001384.5(DPH2):c.922C>T (p.Gln308Ter)	DPH2, LOC126805726 (Q115* +5 more)	Single nucleotide variant (nonsense +1 more)	Ventricular septal defect +3 more	GConflicting classifications of pathogenicity
Select item 40513	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	PTPN11 (E139D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 209131	NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)	ANKRD11 (E800fs)	Deletion (frameshift variant)	KBG syndrome +3 more	GPathogenic
Select item 279678	NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	ANKRD11 (K635fs)	Microsatellite (frameshift variant)	not provided +11 more	GPathogenic/Likely pathogenic

ClinVar