"Division of Medical Genetics; Sainte-Justine Hospital"[submitter] AND - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 91396	NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys)	TBC1D24 (R40C)	Single nucleotide variant (missense variant)	DOORS syndrome +4 more	GPathogenic
Select item 183152	NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu)	TBC1D24 (R40L)	Single nucleotide variant (missense variant)	DOORS syndrome +3 more	GPathogenic/Likely pathogenic
Select item 100677	NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr)	TBC1D24 (D70Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 86	GPathogenic
Select item 183153	NM_001199107.2(TBC1D24):c.313T>C (p.Cys105Arg)	TBC1D24 (C105R)	Single nucleotide variant (missense variant)	DOORS syndrome	GPathogenic
Select item 183154	NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser)	TBC1D24 (G110S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +4 more	GConflicting classifications of pathogenicity
Select item 48	NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His)	TBC1D24 (D147H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GPathogenic
Select item 56847	NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter)	TBC1D24 (C156*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GPathogenic
Select item 133246	NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)	TBC1D24 (S178L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +3 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, 16 +4 more	GPathogenic
Select item 91395	NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)	TBC1D24 (R242C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 16 +7 more	GPathogenic/Likely pathogenic
Select item 50	NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu)	TBC1D24 (F251L)	Single nucleotide variant (missense variant)	Familial infantile myoclonic epilepsy	GPathogenic
Select item 100678	NM_001199107.2(TBC1D24):c.878G>C (p.Arg293Pro)	TBC1D24 (R293P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 86	GPathogenic
Select item 56845	NM_001199107.1(TBC1D24):c.969_970delGT	TBC1D24	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 16	GPathogenic
Select item 183155	NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe)	TBC1D24 (L333F +1 more)	Single nucleotide variant (missense variant)	DOORS syndrome	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)	Developmental and epileptic encephalopathy, 1 +7 more	GConflicting classifications of pathogenicity
Select item 183156	NM_001199107.2(TBC1D24):c.1460dup (p.His487fs)	TBC1D24 (H481fs +1 more)	Duplication (frameshift variant)	DOORS syndrome	GPathogenic
Select item 49	NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)	TBC1D24 (A509V +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity