ClinVar for MedGen (Select 8514) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 933149	NM_021614.4(KCNN2):c.1931T>C (p.Leu644Pro)	LOC101927078, KCNN2 (L644P +2 more)	Single nucleotide variant (missense variant +1 more)	Dyskinesia +3 more	GPathogenic
Select item 812997	NM_032856.5(WDR73):c.42-1G>C	WDR73	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskinesia +1 more	GPathogenic
Select item 812779	NM_020988.3(GNAO1):c.545C>T (p.Thr182Ile)	GNAO1 (T182I)	Single nucleotide variant (missense variant)	Dyskinesia +1 more	GLikely pathogenic
Select item 420523	NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys)	GNAO1 (E237K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic/Likely pathogenic
Select item 267947	46;XX;t(2;14)(q21;q24.3)dn		Translocation	Choreoathetosis +3 more	GUncertain significance
Select item 37108	NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)	ATP1A3 (E815K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99 +13 more	GPathogenic
Select item 8396	NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)	CSTB (R68*)	Single nucleotide variant (nonsense)	Progressive myoclonic epilepsy +10 more	GPathogenic
Select item 8395	NM_000100.4(CSTB):c.67-1G>C	CSTB	Single nucleotide variant (splice acceptor variant)	Encephalopathy +6 more	GConflicting classifications of pathogenicity

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