"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 91397	NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu)	TBC1D24 (Q20E)	Single nucleotide variant (missense variant)	DOORS syndrome	GPathogenic
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)	Caused by mutation in the TBC1 domain family, member 24 +3 more	GPathogenic/Likely pathogenic
Select item 183154	NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser)	TBC1D24 (G110S)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +4 more	GConflicting classifications of pathogenicity
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 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)	not provided +6 more	GPathogenic
Select item 91399	NM_001199107.2(TBC1D24):c.1206+5G>A	TBC1D24	Single nucleotide variant (intron variant)	DOORS syndrome	GPathogenic