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Links from MedGen

Items: 20

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:621567
GRCh38:
Chr19:621567
POLRMTG600R, G603R, G636R, G697R, G707R, G708R, G711RCombined oxidative phosphorylation deficiency 55Uncertain significance
(May 3, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr19:622994
GRCh38:
Chr19:622994
POLRMTCombined oxidative phosphorylation deficiency 55Uncertain significance
(May 18, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr19:622898
GRCh38:
Chr19:622898
POLRMTV352L, V446L, V456L, V460LCombined oxidative phosphorylation deficiency 55Uncertain significance
(Apr 14, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr19:621669
GRCh38:
Chr19:621669
POLRMTA566T, A569T, A602T, A663T, A673T, A674T, A677TCombined oxidative phosphorylation deficiency 55Uncertain significance
(Sep 6, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr19:621843
GRCh38:
Chr19:621843
POLRMTG619SCombined oxidative phosphorylation deficiency 55Uncertain significance
(Apr 25, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr19:625196
GRCh38:
Chr19:625196
POLRMTP294LCombined oxidative phosphorylation deficiency 55Uncertain significance
(Apr 25, 2022)
criteria provided, single submitter
7.
POLRMTY1153*Combined oxidative phosphorylation deficiency 55Likely pathogenic
(Apr 10, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr19:629917
GRCh38:
Chr19:629917
POLRMTQ149*Combined oxidative phosphorylation deficiency 55Pathogenic
(Feb 21, 2022)
no assertion criteria provided
9.
GRCh37:
Chr19:619615
GRCh38:
Chr19:619615
POLRMTR1013CCombined oxidative phosphorylation deficiency 55Pathogenic
(Feb 21, 2022)
no assertion criteria provided
10.
GRCh37:
Chr19:621270
GRCh38:
Chr19:621270
POLRMTP810SCombined oxidative phosphorylation deficiency 55Pathogenic
(Feb 21, 2022)
no assertion criteria provided
11.
GRCh37:
Chr19:620069
GRCh38:
Chr19:620069
POLRMTC925*Combined oxidative phosphorylation deficiency 55Pathogenic
(Feb 21, 2022)
no assertion criteria provided
12.
GRCh37:
Chr19:621775
GRCh38:
Chr19:621775
POLRMTF641LCombined oxidative phosphorylation deficiency 55Pathogenic
(Feb 21, 2022)
no assertion criteria provided
13.
GRCh37:
Chr19:622168
GRCh38:
Chr19:622168
POLRMTS611FCombined oxidative phosphorylation deficiency 55Pathogenic
(Feb 21, 2022)
no assertion criteria provided
14.
GRCh37:
Chr19:620488
GRCh38:
Chr19:620488
POLRMTCombined oxidative phosphorylation deficiency 55Pathogenic
(Feb 21, 2022)
no assertion criteria provided
15.
GRCh37:
Chr19:629614
GRCh38:
Chr19:629614
POLRMTH250DCombined oxidative phosphorylation deficiency 55Pathogenic
(Feb 21, 2022)
no assertion criteria provided
16.
GRCh37:
Chr19:621456-621473
GRCh38:
Chr19:621456-621473
POLRMTCombined oxidative phosphorylation deficiency 55Pathogenic
(Feb 21, 2022)
no assertion criteria provided
17.
GRCh37:
Chr19:621090
GRCh38:
Chr19:621090
POLRMTD870NCombined oxidative phosphorylation deficiency 55Pathogenic
(Feb 21, 2022)
no assertion criteria provided
18.
GRCh37:
Chr19:617573
Chr19:622304
GRCh38:
Chr19:617573
Chr19:622304
POLRMT, POLRMTS1193F, P566SCombined oxidative phosphorylation deficiency 55Pathogenic
(Feb 10, 2022)
no assertion criteria provided
19.
GRCh37:
Chr19:632849
GRCh38:
Chr19:632849
POLRMTV60Mnot provided, Combined oxidative phosphorylation deficiency 55Benign/Likely benign
(Dec 3, 2021)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr19:619099
GRCh38:
Chr19:619099
POLRMTnot provided, Combined oxidative phosphorylation deficiency 55Benign/Likely benign
(Apr 4, 2022)
criteria provided, multiple submitters, no conflicts
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