ClinVar for MedGen (Select 815503) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672238	NM_001033044.4(GLUL):c.-13-1G>A	GLUL	Single nucleotide variant (splice acceptor variant)	Glutamine synthetase stabilization disorder +1 more	GPathogenic/Likely pathogenic
Select item 2672237	NM_001033044.4(GLUL):c.1A>C (p.Met1Leu)	GLUL (M1L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 16 +1 more	GPathogenic/Likely pathogenic
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 1804125	NM_001199107.2(TBC1D24):c.1115C>A (p.Ser372Tyr)	TBC1D24 (S366Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 16	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 1456664	NM_001199107.2(TBC1D24):c.752del (p.Phe251fs)	TBC1D24 (F251fs)	Deletion (frameshift variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GPathogenic
Select item 1339566	NM_001199107.2(TBC1D24):c.1652G>A (p.Trp551Ter)	TBC1D24 (W545* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 16	GLikely pathogenic
Select item 1333213	NM_001199107.2(TBC1D24):c.844C>T (p.Pro282Ser)	TBC1D24 (P282S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 16	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 1194257	NM_001033044.4(GLUL):c.1A>G (p.Met1Val)	GLUL (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1187386	NM_001033044.4(GLUL):c.-13-2A>G	GLUL	Single nucleotide variant (splice acceptor variant)	not provided	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 807960	NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys)	TBC1D24 (E148K)	Single nucleotide variant (missense variant)	TBC1D24-related disorder +4 more	GConflicting classifications of pathogenicity
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 646598	NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met)	TBC1D24 (V10M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 626176	NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro)	TBC1D24 (L245P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 86 +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 436948	NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val)	TBC1D24 (A289V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +3 more	GConflicting classifications of pathogenicity
Select item 430447	NM_001033044.4(GLUL):c.1A>T (p.Met1Leu)	GLUL (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 425091	NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg)	TBC1D24 (G509R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 16 +4 more	GConflicting classifications of pathogenicity
Select item 424803	NM_020705.2(TBC1D24):c.[1218G>C];[1270T>C]			Familial infantile myoclonic epilepsy +2 more	GLikely pathogenic
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 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)	TBC1D24-related disorder +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 208413	NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)	TBC1D24 (E443K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +9 more	GConflicting classifications of pathogenicity
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 207512	NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser)	TBC1D24 (F412S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 207506	NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr)	TBC1D24 (A291T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +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 207499	NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)	TBC1D24 (E153K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity
Select item 207484	NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser)	TBC1D24 (G165S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +7 more	GConflicting classifications of pathogenicity
Select item 183157	NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu)	TBC1D24 (R360L +1 more)	Single nucleotide variant (missense variant)	Abnormality of the nervous system +7 more	GConflicting classifications of pathogenicity
Select item 130538	NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=)	TBC1D24	Single nucleotide variant (synonymous variant)	not specified +10 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 130534	NM_001199107.2(TBC1D24):c.1143-6C>T	TBC1D24	Single nucleotide variant (intron variant)	DOORS syndrome +8 more	GBenign/Likely benign
Select item 91395	NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)	TBC1D24 (R242C)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 56847	NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter)	TBC1D24 (C156*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 1 +2 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 56845	NM_020705.3(TBC1D24):c.966-529GT[2]	TBC1D24	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 16	GPathogenic

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Items: 41