ClinVar for OMIM (Select 304700) - ClinVar

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Links from OMIM

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1703041	NM_004085.4(TIMM8A):c.223C>T (p.Gln75Ter)	TIMM8A (Q75*)	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GPathogenic
Select item 1686260	NM_004085.4(TIMM8A):c.181del (p.Ala61fs)	TIMM8A (A61fs)	Deletion (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GPathogenic
Select item 1312519	NC_000023.11:g.101345283_101347393del	TIMM8A	Deletion	Deafness dystonia syndrome	GPathogenic
Select item 1312518	NC_000023.10:g.100582860_100610076del	BTK, TIMM8A	Deletion	Deafness dystonia syndrome	GPathogenic
Select item 1312517	NC_000023.10:g.100580141_100619992del	BTK, TIMM8A	Deletion	Deafness dystonia syndrome	GPathogenic
Select item 1312516	NC_000023.10:g.100564340_100627836del	BTK, TIMM8A	Deletion	Deafness dystonia syndrome	GPathogenic
Select item 1185678	NM_004085.4(TIMM8A):c.232_233insCAAT (p.Leu78fs)	TIMM8A (L78fs)	Insertion (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GLikely pathogenic
Select item 1185085	NM_004085.4(TIMM8A):c.66_67del (p.Ile23fs)	TIMM8A (I23fs)	Deletion (frameshift variant)	Deafness dystonia syndrome	GPathogenic
Select item 929951	NC_000023.11:g.(?_101346475)_(101348757_?)del	TIMM8A	Deletion	Deafness dystonia syndrome	GPathogenic
Select item 804062	NM_004085.4(TIMM8A):c.127T>C (p.Cys43Arg)	TIMM8A (C43R)	Single nucleotide variant (missense variant)	Deafness dystonia syndrome +1 more	GLikely pathogenic
Select item 21394	NM_004085.4(TIMM8A):c.503_505dup	TIMM8A	Duplication (3 prime UTR variant)	Deafness dystonia syndrome	GBenign
Select item 21393	NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter)	TIMM8A (Q38*)	Single nucleotide variant (nonsense)	Deafness dystonia syndrome	Gnot provided
Select item 11326	NM_004085.4(TIMM8A):c.127del (p.Cys43fs)	TIMM8A (C43fs)	Deletion (frameshift variant)	Deafness dystonia syndrome	GPathogenic
Select item 11325	NM_004085.4(TIMM8A):c.133-23A>C	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GPathogenic
Select item 11324	NM_004085.4(TIMM8A):c.238C>T (p.Arg80Ter)	TIMM8A (R80*)	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GPathogenic
Select item 11323	NC_000023.11:g.(?_101345661)_(101348742_?)del	LOC130068494, TIMM8A	Deletion	Deafness dystonia syndrome	GPathogenic
Select item 11322	NM_004085.4(TIMM8A):c.73del (p.Glu24_Val25insTer)	TIMM8A	Deletion (nonsense)	not provided	GPathogenic
Select item 11321	NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp)	TIMM8A (C66W)	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GLikely pathogenic
Select item 11320	NM_004085.4(TIMM8A):c.70G>T (p.Glu24Ter)	TIMM8A (E24*)	Single nucleotide variant (nonsense)	Deafness dystonia syndrome	GPathogenic
Select item 11319	NM_004085.4(TIMM8A):c.148_157del (p.Lys50fs)	TIMM8A (K50fs)	Deletion (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GPathogenic
Select item 11318	NM_004085.4(TIMM8A):c.116del (p.Met39fs)	TIMM8A (M39fs)	Deletion (frameshift variant)	Deafness dystonia syndrome	GPathogenic

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Links from OMIM

Items: 21