C0424605[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 373960	NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	SCN3A (I875T +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4 +3 more	GPathogenic/Likely pathogenic
Select item 373959	NM_000834.5(GRIN2B):c.2395G>A (p.Gly799Ser)	GRIN2B (G799S)	Single nucleotide variant (missense variant)	Developmental delay +1 more	GLikely pathogenic
Select item 6442	NM_000369.5(TSHR):c.122G>C (p.Cys41Ser)	CEP128, TSHR (C41S)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor	GPathogenic
Select item 373931	NM_130839.5(UBE3A):c.2504_2516dup (p.Cys840fs)	SNHG14, UBE3A (C840fs +8 more)	Duplication (frameshift variant +1 more)	Developmental delay +1 more	GLikely pathogenic
Select item 30986	NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)	ASXL1 (R404* +1 more)	Single nucleotide variant (nonsense)	dystrophia +14 more	GPathogenic
Select item 373904	NM_001323289.2(CDKL5):c.1471_1472dup (p.Leu492fs)	CDKL5 (L492fs)	Duplication (frameshift variant)	Developmental delay +1 more	GLikely pathogenic

ClinVar