ClinVar for MedGen (Select 1785671) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1645773	NM_001873.4(CPE):c.505-3dup	CPE	Duplication (intron variant)	BDV syndrome +1 more	GBenign/Likely benign
Select item 1572366	NM_001873.4(CPE):c.1422A>G (p.Leu474=)	CPE	Single nucleotide variant (synonymous variant)	BDV syndrome +1 more	GBenign/Likely benign
Select item 1209851	NM_001873.4(CPE):c.361C>T (p.Arg121Ter)	CPE (R121*)	Single nucleotide variant (nonsense)	BDV syndrome +1 more	GPathogenic
Select item 1096917	NM_001873.4(CPE):c.405C>A (p.Tyr135Ter)	CPE (Y135*)	Single nucleotide variant (nonsense)	BDV syndrome	GPathogenic
Select item 689401	NM_001873.4(CPE):c.76_98del (p.Glu26fs)	CPE, LOC129993339 (E26fs)	Deletion (frameshift variant)	BDV syndrome	GPathogenic
Select item 649127	NM_001873.4(CPE):c.994del (p.Ser333fs)	CPE (S333fs)	Deletion (frameshift variant)	not provided	GPathogenic

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