C3809173[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 655487	NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met)	TBC1D24 (V73M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +9 more	GUncertain significance
Select item 229287	NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn)	TBC1D24 (D147N)	Single nucleotide variant (missense variant)	DOORS syndrome +9 more	GUncertain significance
Select item 207501	NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu)	TBC1D24 (S202L)	Single nucleotide variant (missense variant)	Familial infantile myoclonic epilepsy +8 more	GUncertain significance
Select item 474312	NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys)	TBC1D24 (R270C)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 207506	NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr)	TBC1D24 (A291T)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 207519	NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His)	TBC1D24 (R293H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +10 more	GUncertain significance
Select item 130534	NM_001199107.2(TBC1D24):c.1143-6C>T	TBC1D24	Single nucleotide variant (intron variant)	DOORS syndrome +8 more	GBenign/Likely benign
Select item 130535	NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=)	TBC1D24	Single nucleotide variant (synonymous variant)	not specified +10 more	GBenign/Likely benign
Select item 421795	NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs)	TBC1D24 (P455fs +1 more)	Duplication (frameshift variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 969480	NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr)	TBC1D24 (A465T +1 more)	Single nucleotide variant (missense variant)	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +7 more	GUncertain significance
Select item 378706	NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp)	TBC1D24 (A476D +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +11 more	GBenign/Likely benign
Select item 130538	NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=)	TBC1D24	Single nucleotide variant (synonymous variant)	Familial infantile myoclonic epilepsy +10 more	GBenign/Likely benign
Select item 392542	NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val)	TBC1D24 (I545V +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance