ClinVar for MedGen (Select 334104) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584794	NM_001199107.2(TBC1D24):c.571T>C (p.Cys191Arg)	TBC1D24 (C191R)	Single nucleotide variant (missense variant)	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +1 more	GUncertain significance
Select item 1696584	NM_001199107.2(TBC1D24):c.-116+125A>C	TBC1D24	Single nucleotide variant (intron variant)	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +3 more	GUncertain significance
Select item 1213711	NM_001199107.2(TBC1D24):c.1142+272T>C	TBC1D24	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 16	GUncertain significance
Select item 1071941	NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs)	TBC1D24 (W215fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 65 +6 more	GPathogenic
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 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 652619	NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His)	TBC1D24 (R360H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 652618	NM_001199107.2(TBC1D24):c.1501G>A (p.Gly501Arg)	TBC1D24 (G501R +1 more)	Single nucleotide variant (missense variant)	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	GPathogenic
Select item 626176	NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro)	TBC1D24 (L245P)	Single nucleotide variant (missense variant)	not provided +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 425089	NM_001199107.2(TBC1D24):c.1367C>A (p.Pro456Gln)	TBC1D24 (P456Q +1 more)	Single nucleotide variant (missense variant)	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +4 more	GUncertain significance
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 419296	NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)	TBC1D24 (A500V +1 more)	Single nucleotide variant (missense variant)	TBC1D24-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 418692	NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1])	TBC1D24	Microsatellite (inframe_deletion)	Caused by mutation in the TBC1 domain family, member 24 +4 more	GConflicting classifications of pathogenicity
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
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 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 227980	NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp)	TBC1D24 (R524W +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +7 more	GConflicting classifications of pathogenicity
Select item 207519	NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His)	TBC1D24 (R293H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GUncertain significance
Select item 207501	NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu)	TBC1D24 (S202L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +8 more	GUncertain significance
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 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 130534	NM_001199107.2(TBC1D24):c.1143-6C>T	TBC1D24	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign

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Items: 23