ClinVar for MedGen (Select 767513) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 20

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17096611.	NM_001080449.3(DNA2):c.876C>A (p.Tyr292Ter) GRCh37: Chr10:70209848 GRCh38: Chr10:68450091	DNA2	Y292*	Mitochondrial DNA deletion syndrome with progressive myopathy	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 16988352.	NM_001080449.3(DNA2):c.1213T>C (p.Tyr405His) GRCh37: Chr10:70204685 GRCh38: Chr10:68444928	DNA2	Y405H	Mitochondrial DNA deletion syndrome with progressive myopathy	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 13337703.	NM_001080449.3(DNA2):c.2546G>T (p.Gly849Val) GRCh37: Chr10:70182133 GRCh38: Chr10:68422376	DNA2	G849V	Mitochondrial DNA deletion syndrome with progressive myopathy	Uncertain significance (Mar 25, 2021)	criteria provided, single submitter
Select item 13337684.	NM_001080449.3(DNA2):c.1450del (p.Arg484fs) GRCh37: Chr10:70196964 GRCh38: Chr10:68437207	DNA2	R484fs	Mitochondrial DNA deletion syndrome with progressive myopathy	Uncertain significance (Jun 3, 2020)	criteria provided, single submitter
Select item 13335055.	NM_001080449.3(DNA2):c.411G>C (p.Met137Ile) GRCh37: Chr10:70227910 GRCh38: Chr10:68468153	DNA2	M137I	Mitochondrial DNA deletion syndrome with progressive myopathy	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 10300906.	NM_001080449.3(DNA2):c.2219C>G (p.Ala740Gly) GRCh37: Chr10:70182637 GRCh38: Chr10:68422880	DNA2	A740G	Mitochondrial DNA deletion syndrome with progressive myopathy	Uncertain significance (Jun 13, 2019)	criteria provided, single submitter
Select item 8074077.	NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu) GRCh37: Chr10:70191683 GRCh38: Chr10:68431926	DNA2	S640L	Mitochondrial DNA deletion syndrome with progressive myopathy, not provided	Likely pathogenic (Nov 12, 2020)	criteria provided, multiple submitters, no conflicts
Select item 5592188.	NM_001080449.3(DNA2):c.720-4del GRCh37: Chr10:70210008 GRCh38: Chr10:68450251	DNA2		Mitochondrial DNA deletion syndrome with progressive myopathy, Seckel syndrome 8, not provided	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5229609.	NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile) GRCh37: Chr10:70176566 GRCh38: Chr10:68416809	DNA2	T1005I	Mitochondrial DNA deletion syndrome with progressive myopathy	Likely pathogenic (Dec 18, 2017)	criteria provided, single submitter
Select item 51641410.	NM_001080449.3(DNA2):c.1057+19del GRCh37: Chr10:70206034 GRCh38: Chr10:68446277	DNA2		Seckel syndrome 8, Mitochondrial DNA deletion syndrome with progressive myopathy, not provided	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42920011.	NM_001080449.3(DNA2):c.2697+13del GRCh37: Chr10:70181969 GRCh38: Chr10:68422212	DNA2		Mitochondrial DNA deletion syndrome with progressive myopathy, Seckel syndrome 8, not provided	Benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38500612.	NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser) GRCh37: Chr10:70192265 GRCh38: Chr10:68432508	DNA2	N550S	not provided, Seckel syndrome 8, Mitochondrial DNA deletion syndrome with progressive myopathy	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38298413.	NM_001080449.3(DNA2):c.295T>C (p.Leu99=) GRCh37: Chr10:70228026 GRCh38: Chr10:68468269	DNA2		not specified, not provided, Mitochondrial DNA deletion syndrome with progressive myopathy, Seckel syndrome 8	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38184714.	NM_001080449.3(DNA2):c.888G>A (p.Pro296=) GRCh37: Chr10:70209836 GRCh38: Chr10:68450079	DNA2		Mitochondrial DNA deletion syndrome with progressive myopathy, Seckel syndrome 8, not provided, not specified	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26552915.	NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs) GRCh37: Chr10:70196768-70196771 GRCh38: Chr10:68437011-68437014	DNA2	D548fs	not provided, Mitochondrial DNA deletion syndrome with progressive myopathy	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25734616.	NM_001080449.3(DNA2):c.507C>A (p.Ala169=) GRCh37: Chr10:70225504 GRCh38: Chr10:68465747	DNA2		Seckel syndrome 8, not specified, not provided, Mitochondrial DNA deletion syndrome with progressive myopathy	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25734317.	NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu) GRCh37: Chr10:70182334 GRCh38: Chr10:68422577	DNA2	F810L	not provided, Mitochondrial DNA deletion syndrome with progressive myopathy, Seckel syndrome 8, not specified	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4147918.	NM_001080449.3(DNA2):c.1909G>A (p.Val637Ile) GRCh37: Chr10:70191693 GRCh38: Chr10:68431936	DNA2	V637I	not specified, not provided	Uncertain significance (Apr 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4147819.	NM_001080449.3(DNA2):c.679A>G (p.Lys227Glu) GRCh37: Chr10:70218901 GRCh38: Chr10:68459144	DNA2	K227E	Mitochondrial DNA deletion syndrome with progressive myopathy	Pathogenic (Feb 7, 2013)	no assertion criteria provided
Select item 4147720.	NM_001080449.3(DNA2):c.593G>A (p.Arg198His) GRCh37: Chr10:70218987 GRCh38: Chr10:68459230	DNA2	R198H	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 20