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Links from MedGen

Items: 12

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:130517970-130517972
GRCh38:
Chr5:131182277-131182279
LYRM7S49delMitochondrial complex III deficiency nuclear type 8, not providedUncertain significance
(Feb 13, 2023)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr5:130535288
GRCh38:
Chr5:131199595
LYRM7K103fsMitochondrial complex III deficiency nuclear type 8Likely pathogenic
(Oct 26, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr5:130517950
GRCh38:
Chr5:131182257
LYRM7F40LMitochondrial complex III deficiency nuclear type 8Uncertain significance
(May 22, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr5:130506715
GRCh38:
Chr5:131171022
LYRM7M1TMitochondrial complex III deficiency nuclear type 8Pathogenic/Likely pathogenic
(Jun 13, 2023)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr5:130535243
GRCh38:
Chr5:131199550
LYRM7D88E, T61NMitochondrial complex III deficiency nuclear type 8, not providedUncertain significance
(Jul 18, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr5:130522808
GRCh38:
Chr5:131187115
LYRM7Mitochondrial complex III deficiency nuclear type 8Uncertain significanceno assertion criteria provided
7.
GRCh37:
Chr5:130522772
GRCh38:
Chr5:131187079
LYRM7Q72EMitochondrial complex III deficiency nuclear type 8Likely pathogenic
(Apr 27, 2019)
criteria provided, single submitter
8.
GRCh37:
Chr5:130515803
GRCh38:
Chr5:131180110
LYRM7T13fsnot providedPathogenic
(Dec 16, 2018)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr5:130522772
GRCh38:
Chr5:131187079
LYRM7Q72*Mitochondrial complex III deficiency nuclear type 8Pathogenic
(Nov 27, 2018)
no assertion criteria provided
10.
GRCh37:
Chr5:130522746-130522747
GRCh38:
Chr5:131187053-131187054
LYRM7Mitochondrial complex III deficiency nuclear type 8Pathogenic
(Nov 27, 2018)
no assertion criteria provided
11.
GRCh37:
Chr5:130522806-130522807
GRCh38:
Chr5:131187113-131187114
LYRM7Mitochondrial complex III deficiency nuclear type 8Pathogenic
(Mar 2, 2016)
no assertion criteria provided
12.
GRCh37:
Chr5:130515842
GRCh38:
Chr5:131180149
LYRM7D25NMitochondrial complex III deficiency nuclear type 8Pathogenic
(Dec 1, 2013)
no assertion criteria provided
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