"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139393	NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=)	TBC1D24	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +6 more	GBenign/Likely benign
Select item 139396	NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu)	TBC1D24 (F295L)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 130534	NM_001199107.2(TBC1D24):c.1143-6C>T	TBC1D24	Single nucleotide variant (intron variant)	not specified +9 more	GBenign/Likely benign
Select item 130535	NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=)	TBC1D24	Single nucleotide variant (synonymous variant)	Familial infantile myoclonic epilepsy +10 more	GBenign/Likely benign
Select item 130536	NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=)	TBC1D24	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GBenign
Select item 130537	NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=)	TBC1D24	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 130538	NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +10 more	GBenign/Likely benign
Select item 139400	NM_001199107.2(TBC1D24):c.1526-20C>T	TBC1D24	Single nucleotide variant (intron variant)	not specified +4 more	GBenign

ClinVar