ClinVar for MedGen (Select 1646846) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234946	NM_006651.4(CPLX1):c.188G>A (p.Arg63His)	CPLX1 (R63H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 63	GUncertain significance
Select item 2047405	NM_006651.4(CPLX1):c.210C>G (p.Tyr70Ter)	CPLX1 (Y70*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 63 +1 more	GUncertain significance
Select item 1705441	NM_006651.4(CPLX1):c.66_75del (p.Asp23fs)	CPLX1 (D23fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 63	GLikely pathogenic
Select item 1185526	NM_006651.4(CPLX1):c.*3G>C	CPLX1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1166785	NM_006651.4(CPLX1):c.32-5A>G	CPLX1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 63 +1 more	GBenign
Select item 523650	NM_006651.4(CPLX1):c.382C>A (p.Leu128Met)	CPLX1 (L128M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 523649	NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter)	CPLX1 (C105*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 63	GPathogenic/Likely pathogenic
Select item 402136	NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter)	CPLX1 (E108*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 63 +1 more	GLikely pathogenic

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