C0026650[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812987	NM_001040142.2(SCN2A):c.1270G>T (p.Val424Leu)	SCN2A (V424L)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 625207	NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)	BCS1L (R90C)	Single nucleotide variant (missense variant +3 more)	Pili torti-deafness syndrome +3 more	GPathogenic/Likely pathogenic
Select item 625208	NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)	BCS1L (G173D +2 more)	Single nucleotide variant (missense variant +1 more)	Pili torti-deafness syndrome +2 more	GConflicting classifications of pathogenicity
Select item 207501	NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu)	TBC1D24 (S202L)	Single nucleotide variant (missense variant)	Familial infantile myoclonic epilepsy +8 more	GUncertain significance
Select item 812998	NM_001199107.2(TBC1D24):c.901C>T (p.Gln301Ter)	TBC1D24 (Q301*)	Single nucleotide variant (nonsense)	Global developmental delay +4 more	GLikely pathogenic
Select item 265350	NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys)	GNAO1 (R209C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GPathogenic

ClinVar