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Links from MedGen

Items: 21

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:100601558
GRCh38:
ChrX:101346570
TIMM8AQ75*Deafness dystonia syndromePathogenicno assertion criteria provided
2.
GRCh37:
ChrX:100601600
GRCh38:
ChrX:101346612
TIMM8AA61fsDeafness dystonia syndromePathogenic
(May 4, 2022)
criteria provided, single submitter
3.
GRCh37:
ChrX:100600269-100602379
GRCh38:
ChrX:101345281-101347391
TIMM8ADeafness dystonia syndromePathogenic
(Nov 3, 2021)
no assertion criteria provided
4.
GRCh37:
ChrX:100582860-100610076
BTK, TIMM8ADeafness dystonia syndromePathogenic
(Nov 3, 2021)
no assertion criteria provided
5.
GRCh37:
ChrX:100580141-100619992
BTK, TIMM8ADeafness dystonia syndromePathogenic
(Nov 3, 2021)
no assertion criteria provided
6.
GRCh37:
ChrX:100564340-100627836
BTK, TIMM8ADeafness dystonia syndromePathogenic
(Nov 3, 2021)
no assertion criteria provided
7.
GRCh37:
ChrX:100601548-100601549
GRCh38:
ChrX:101346560-101346561
TIMM8AL78fsDeafness dystonia syndromeLikely pathogenicno assertion criteria provided
8.
GRCh37:
ChrX:100603586-100603587
GRCh38:
ChrX:101348598-101348599
TIMM8AI23fsDeafness dystonia syndromePathogenic
(Jul 1, 2021)
no assertion criteria provided
9.
GRCh37:
ChrX:100601463-100603745
TIMM8ADeafness dystonia syndromePathogenic
(Mar 13, 2019)
criteria provided, single submitter
10.
GRCh37:
ChrX:100603526
GRCh38:
ChrX:101348538
TIMM8AC43RInborn genetic diseases, Deafness dystonia syndromeLikely pathogenic
(May 28, 2019)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
ChrX:100600981-100600982
GRCh38:
ChrX:101345993-101345994
TIMM8ADeafness dystonia syndromeBenign
(Feb 6, 2003)
no assertion criteria provided
12.
GRCh37:
ChrX:100603541
GRCh38:
ChrX:101348553
TIMM8AQ38*Deafness dystonia syndromenot providedno assertion provided
13.
GRCh37:
ChrX:100603526
GRCh38:
ChrX:101348538
TIMM8AC43fsDeafness dystonia syndromePathogenic
(Feb 15, 2006)
no assertion criteria provided
14.
GRCh37:
ChrX:100601671
GRCh38:
ChrX:101346683
TIMM8ADeafness dystonia syndromePathogenic
(Feb 1, 2005)
no assertion criteria provided
15.
GRCh37:
ChrX:100601543
GRCh38:
ChrX:101346555
TIMM8AR80*Deafness dystonia syndromePathogenic
(Jun 1, 2001)
no assertion criteria provided
16.
TIMM8ADeafness dystonia syndromePathogenic
(Mar 23, 2004)
no assertion criteria provided
17.
GRCh37:
ChrX:100603580
GRCh38:
ChrX:101348592
TIMM8ADeafness dystonia syndromePathogenic
(Oct 1, 2001)
no assertion criteria provided
18.
GRCh37:
ChrX:100601583
GRCh38:
ChrX:101346595
TIMM8AC66WDeafness dystonia syndromeLikely pathogenic
(Nov 6, 2020)
criteria provided, single submitter
19.
GRCh37:
ChrX:100603583
GRCh38:
ChrX:101348595
TIMM8AE24*Deafness dystonia syndromePathogenic
(Apr 20, 2016)
no assertion criteria provided
20.
GRCh37:
ChrX:100601624-100601633
GRCh38:
ChrX:101346636-101346645
TIMM8AK50fsDeafness dystonia syndromePathogenic
(Oct 1, 1996)
no assertion criteria provided
21.
GRCh37:
ChrX:100603537
GRCh38:
ChrX:101348549
TIMM8AM39fsDeafness dystonia syndromePathogenic
(Oct 1, 1996)
no assertion criteria provided
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