CN479605[trait identifier] AND "TIDEX, University of British Columbia" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 431732	NM_025179.4(PLXNA2):c.2206G>A (p.Gly736Ser)	PLXNA2 (G736S)	Single nucleotide variant (missense variant)	atypical cerebral palsy	GLikely pathogenic
Select item 431726	NM_006922.4(SCN3A):c.626T>C (p.Leu209Pro)	SCN3A (L209P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 431727	NM_004438.5(EPHA4):c.2242G>A (p.Ala748Thr)	EPHA4 (A748T +1 more)	Single nucleotide variant (missense variant)	atypical cerebral palsy	GLikely pathogenic
Select item 134773	NM_170606.3(KMT2C):c.8502A>T (p.Glu2834Asp)	KMT2C (E2834D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 431728	NM_001199267.2(DGKZ):c.162-921dup	DGKZ (A39fs)	Duplication (frameshift variant +1 more)	atypical cerebral palsy	GPathogenic
Select item 431729	NM_001199267.2(DGKZ):c.2660C>G (p.Thr887Arg)	DGKZ (T1076R +6 more)	Single nucleotide variant (missense variant)	atypical cerebral palsy +1 more	GConflicting classifications of pathogenicity
Select item 431724	NM_002579.3(PALM):c.71G>A (p.Arg24Gln)	PALM (R24Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 431725	NM_002579.3(PALM):c.461C>T (p.Thr154Met)	PALM (T154M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar