"PreventionGenetics, part of Exact Sciences"[submitter] AND "CPNE1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035644	NM_006047.6(RBM12):c.2505_2510dup (p.Pro837_Ile838insGlyPro)	CPNE1, RBM12	Duplication (inframe insertion +1 more)	RBM12-related disorder	GBenign
Select item 3049197	NM_006047.6(RBM12):c.2505T>C (p.Pro835=)	CPNE1, RBM12	Single nucleotide variant (synonymous variant +1 more)	RBM12-related disorder	GLikely benign
Select item 3050136	NM_006047.6(RBM12):c.2487CGGCCC[2] (p.826GP[5])	CPNE1, RBM12	Microsatellite (inframe deletion +1 more)	RBM12-related disorder	GBenign
Select item 2635342	NM_006047.6(RBM12):c.563del (p.Pro188fs)	CPNE1, RBM12 (P188fs)	Deletion (frameshift variant +1 more)	RBM12-related disorder	GUncertain significance
Select item 3050117	NM_006047.6(RBM12):c.508A>G (p.Thr170Ala)	CPNE1, RBM12 (T170A)	Single nucleotide variant (missense variant +1 more)	RBM12-related disorder	GLikely benign
Select item 1268243	NM_006047.6(RBM12):c.228G>A (p.Lys76=)	CPNE1, RBM12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3034426	NM_006047.6(RBM12):c.213A>G (p.Leu71=)	CPNE1, RBM12	Single nucleotide variant (synonymous variant +1 more)	RBM12-related disorder	GLikely benign

ClinVar