C1858120[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812923	NC_000005.10:g.139189727_139201554del	SIL1	Deletion	Global developmental delay +8 more	GPathogenic
Select item 221295	NM_020771.4(HACE1):c.805C>T (p.Arg269Ter)	HACE1 (R269* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 225633	NM_001385079.1(PDE10A):c.1118A>G (p.Tyr373Cys)	PDE10A (Y107C +2 more)	Single nucleotide variant (missense variant)	Infantile-onset generalized dyskinesia with orofacial involvement +2 more	GPathogenic/Likely pathogenic
Select item 375502	NM_001375380.1(EBF3):c.280_283del (p.Glu94fs)	EBF3 (E94fs)	Deletion (frameshift variant)	Generalized hypotonia +7 more	GPathogenic
Select item 426517	NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter)	ASXL3 (S1155*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 625211	NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met)	GRIA3 (T776M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 812931	NC_000023.11:g.41506506_41542250del	CASK	Deletion	Congenital cerebellar hypoplasia +4 more	GLikely pathogenic

ClinVar