ClinVar for MedGen (Select 208648) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1029242	NM_001199107.2(TBC1D24):c.965+2T>C	TBC1D24	Single nucleotide variant (splice donor variant)	Caused by mutation in the TBC1 domain family, member 24 +3 more	GLikely pathogenic
Select item 982832	NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp)	TBC1D24 (S178W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +3 more	GConflicting classifications of pathogenicity
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)	not provided +9 more	GUncertain significance
Select item 626176	NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro)	TBC1D24 (L245P)	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 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 +8 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 375708	NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)	TBC1D24 (P135L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +3 more	GConflicting classifications of pathogenicity
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 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 207505	NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)	TBC1D24 (P282R)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 207501	NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu)	TBC1D24 (S202L)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +8 more	GUncertain significance
Select item 207499	NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)	TBC1D24 (E153K)	Single nucleotide variant (missense variant)	Rare genetic deafness +9 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 183155	NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe)	TBC1D24 (L333F +1 more)	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)	Caused by mutation in the TBC1 domain family, member 24 +4 more	GConflicting classifications of pathogenicity
Select item 183153	NM_001199107.2(TBC1D24):c.313T>C (p.Cys105Arg)	TBC1D24 (C105R)	Single nucleotide variant (missense variant)	DOORS syndrome	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 133246	NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)	TBC1D24 (S178L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +3 more	GPathogenic
Select item 130538	NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=)	TBC1D24	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +10 more	GBenign/Likely benign
Select item 130535	NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +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 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 91399	NM_001199107.2(TBC1D24):c.1206+5G>A	TBC1D24	Single nucleotide variant (intron variant)	DOORS syndrome	GPathogenic
Select item 91398	NM_001199107.2(TBC1D24):c.1008del (p.His336fs)	TBC1D24 (H330fs +1 more)	Deletion (frameshift variant)	Caused by mutation in the TBC1 domain family, member 24 +6 more	GPathogenic
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)	not provided +4 more	GPathogenic
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 49	NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)	TBC1D24 (A509V +1 more)	Single nucleotide variant (missense variant)	DOORS syndrome +5 more	GConflicting classifications of pathogenicity

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Items: 38