C3809173[trait identifier] AND "Division of Medical Genetics; Sainte-J - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56847	NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter)	TBC1D24 (C156*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 1 +2 more	GPathogenic
Select item 56846	NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser)	TBC1D24 (F229S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +4 more	GPathogenic
Select item 91395	NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)	TBC1D24 (R242C)	Single nucleotide variant (missense variant)	TBC1D24-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 56845	NM_001199107.1(TBC1D24):c.969_970delGT	TBC1D24	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 16	GPathogenic
Select item 91398	NM_001199107.2(TBC1D24):c.1008del (p.His336fs)	TBC1D24 (H330fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 16 +7 more	GPathogenic
Select item 183157	NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu)	TBC1D24 (R360L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +7 more	GConflicting classifications of pathogenicity

ClinVar