View genomic variant #0000017766

Variant on transcripts

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Affects function: The variant's effect on the protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.

Location: Location of variant at DNA level; note that the variant location can also be derived from the variant description.
All options:

• 5' gene flanking
• 5' UTR
• Exon
• Intron
• 3' UTR
• 3' gene flanking

Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.

DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.

Protein: Description of variant at protein level (following HGVS recommendations).

• p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
• p.Arg345Pro = change derived from RNA analysis
• p.? = unknown effect
• p.0? = probably no protein produced

PolyPhen: Effect of variant, predicted by PolyPhen.
All options:

• benign = Benign
• possiblyDamaging = Possibly damaging
• probablyDamaging = Probably damaging
• noPrediction = No prediction

GVS function: The functional annotation of this position from the Genome Variation Server.
All options:

• intergenic
• near-gene-5
• utr-5
• coding
• coding-near-splice
• coding-synonymous
• coding-synonymous-near-splice
• codingComplex
• codingComplex-near-splice
• frameshift
• frameshift-near-splice
• missense
• missense-near-splice
• splice-5
• intron
• splice-3
• stop-gained
• stop-gained-near-splice
• stop-lost
• stop-lost-near-splice
• utr-3
• near-gene-3

Splice distance: The distance to the nearest splice site.

SIFT: SIFT Annotation

2 entries on 1 page. Showing entries 1 - 2.

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Gene	Transcript ID	Transcript	Variant ID	Affects function	Location	Exon	DNA change (cDNA)	Protein	PolyPhen	GVS function	Splice distance	SIFT
POLG	00000266	NM_001126131.1	0000017766	./.	-	-	c.158_159insGCAGCAGCAGCA	p.(Gln52_Gln55dup)	-	-	-	-
POLG	00000267	NM_002693.2	0000017766	./.	-	-	c.158_159insGCAGCAGCAGCA	p.(Gln52_Gln55dup)	-	-	-	-

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ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000758287;
Chromosome	15:89876827..89876827
ClinVar Allele ID	610802
Disease database name and identifier	MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876827T>A
ClinVar review status	criteria provided, single submitter
Clinical Significance	Uncertain significance
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001583|missense variant
Allele origin	germline
dbSNP ID	587781118
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000803049;
Chromosome	15:89876827..89876827
ClinVar Allele ID	643619
Disease database name and identifier	MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876827delinsAGGCTGCTGTTGC
ClinVar review status	criteria provided, single submitter
Clinical Significance	Uncertain significance
Variant type	Indel
Sequence Ontology for variant type	SO:1000032
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001821|inframe insertion
Allele origin	germline
dbSNP ID	1596362608
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000127542; RCV000676328; RCV000758507;
Chromosome	15:89876827..89876827
ClinVar Allele ID	142465
Disease database name and identifier	MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	not specified|not provided|Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876827T>C
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Benign/Likely benign
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA292850
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001819|synonymous variant
Allele origin	germline
dbSNP ID	587781118
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV003463334;
Chromosome	15:89876827..89876828
ClinVar Allele ID	2835096
Disease database name and identifier	MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876827 89876828insGC
ClinVar review status	criteria provided, single submitter
Clinical Significance	Likely pathogenic
Variant type	Insertion
Sequence Ontology for variant type	SO:0000667
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001589|frameshift variant
Allele origin	unknown
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000153756; RCV000676330; RCV000714693; RCV000758545; RCV001847785; RCV002312681; RCV002492575;
Chromosome	15:89876827..89876828
ClinVar Allele ID	177972
Disease database name and identifier	MedGen:CN169374|MeSH:D030342, MedGen:C0950123|MedGen:C3661900|MedGen:C4763519|MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685|MONDO:MONDO:0011835, MedGen:C1843851, OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726|MONDO:MONDO:0011283, MedGen:C4551995, OMIM:603041, Orphanet:298|MONDO:MONDO:0024528, MedGen:C1834846, OMIM:157640|MONDO:MONDO:0009783, MedGen:C4225153, OMIM:258450, Orphanet:254886|MONDO:MONDO:0013350, MedGen:C3150914, OMIM:613662, Orphanet:298
ClinVar preferred disease name	not specified|Inborn genetic diseases|not provided|POLG-Related Spectrum Disorders|Hereditary spastic paraplegia|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial DNA depletion syndrome 4b
HGVS variant names	NC 000015.9:g.89876828TGC[12]
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Benign/Likely benign
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Variant clinical sources reported	ClinGen:CA295634
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001821|inframe insertion
Allele origin
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000188534; RCV000226737; RCV000514102; RCV001847827; RCV002311278;
Chromosome	15:89876827..89876828
ClinVar Allele ID	203056
Disease database name and identifier	MeSH:D030342, MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	Inborn genetic diseases|not specified|not provided|Hereditary spastic paraplegia|Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876828TGC[13]
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Benign/Likely benign
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Variant clinical sources reported	ClinGen:CA316621
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001821|inframe insertion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000188532; RCV000224549; RCV001080808; RCV002311277; RCV002492867;
Chromosome	15:89876827..89876828
ClinVar Allele ID	203058
Disease database name and identifier	MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0024528, MedGen:C1834846, OMIM:157640|MONDO:MONDO:0009783, MedGen:C4225153, OMIM:258450, Orphanet:254886|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726|MONDO:MONDO:0011283, MedGen:C4551995, OMIM:603041, Orphanet:298|MONDO:MONDO:0013350, MedGen:C3150914, OMIM:613662, Orphanet:298|MONDO:MONDO:0011835, MedGen:C1843851, OMIM:607459, Orphanet:70595|MedGen:CN169374|MedGen:C3661900
ClinVar preferred disease name	Inborn genetic diseases|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 1|Mitochondrial DNA depletion syndrome 4b|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|not specified|not provided
HGVS variant names	NC 000015.9:g.89876828TGC[14]
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Benign/Likely benign
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Variant clinical sources reported	ClinGen:CA316618
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001821|inframe insertion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000548452; RCV000610037; RCV001722463; RCV002395317;
Chromosome	15:89876827..89876828
ClinVar Allele ID	465243
Disease database name and identifier	MedGen:CN169374|MeSH:D030342, MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	not specified|Inborn genetic diseases|not provided|Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876828TGC[15]
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Likely benign
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Variant clinical sources reported	ClinGen:CA658658323
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001821|inframe insertion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000540524; RCV001721552; RCV002395144;
Chromosome	15:89876827..89876828
ClinVar Allele ID	409386
Disease database name and identifier	MeSH:D030342, MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	Inborn genetic diseases|not provided|Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876828TGC[16]
ClinVar review status	criteria provided, conflicting interpretations
Clinical Significance	Conflicting interpretations of pathogenicity
Conflicting clinical significance	Uncertain significance(1)|Likely benign(2)
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Variant clinical sources reported	ClinGen:CA16620028
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001821|inframe insertion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV001697437; RCV001854151;
Chromosome	15:89876827..89876828
ClinVar Allele ID	505489
Disease database name and identifier	MedGen:C3661900|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	not provided|Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876828TGC[17]
ClinVar review status	criteria provided, conflicting interpretations
Clinical Significance	Conflicting interpretations of pathogenicity
Conflicting clinical significance	Uncertain significance(1)|Likely benign(1)
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Variant clinical sources reported	ClinGen:CA658798420
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001821|inframe insertion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV001325943; RCV002384437;
Chromosome	15:89876827..89876828
ClinVar Allele ID	1011689
Disease database name and identifier	MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	Inborn genetic diseases|Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876828TGC[18]
ClinVar review status	criteria provided, conflicting interpretations
Clinical Significance	Conflicting interpretations of pathogenicity
Conflicting clinical significance	Uncertain significance(1)|Likely benign(1)
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001821|inframe insertion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV001324718;
Chromosome	15:89876827..89876828
ClinVar Allele ID	1011690
Disease database name and identifier	MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876828TGC[20]
ClinVar review status	criteria provided, single submitter
Clinical Significance	Uncertain significance
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001821|inframe insertion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV002030210;
Chromosome	15:89876827..89876828
ClinVar Allele ID	1452954
Disease database name and identifier	MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876828TGC[21]
ClinVar review status	criteria provided, single submitter
Clinical Significance	Uncertain significance
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001821|inframe insertion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV001466754;
Chromosome	15:89876827..89876828
ClinVar Allele ID	770403
Disease database name and identifier	MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876832 89876833insTTGCTGCTG
ClinVar review status	criteria provided, single submitter
Clinical Significance	Likely benign
Variant type	Insertion
Sequence Ontology for variant type	SO:0000667
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001821|inframe insertion
Allele origin	germline
dbSNP ID	1555454334
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV001296418;
Chromosome	15:89876827..89876828
ClinVar Allele ID	996455
Disease database name and identifier	MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876829 89876830insTTGCTG
ClinVar review status	criteria provided, single submitter
Clinical Significance	Uncertain significance
Variant type	Insertion
Sequence Ontology for variant type	SO:0000667
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001821|inframe insertion
Allele origin	germline
dbSNP ID	1555454333
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000481163; RCV002056761;
Chromosome	15:89876827..89876828
ClinVar Allele ID	409385
Disease database name and identifier	MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726|MedGen:CN169374
ClinVar preferred disease name	Progressive sclerosing poliodystrophy|not specified
HGVS variant names	NC 000015.9:g.89876829 89876830insTTGCTGCTG
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Likely benign
Variant type	Insertion
Sequence Ontology for variant type	SO:0000667
Variant clinical sources reported	ClinGen:CA16620027
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001821|inframe insertion
Allele origin	germline
dbSNP ID	1555454333
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000991338; RCV002402414;
Chromosome	15:89876827..89876828
ClinVar Allele ID	409384
Disease database name and identifier	MeSH:D030342, MedGen:C0950123|MedGen:C3661900
ClinVar preferred disease name	Inborn genetic diseases|not provided
HGVS variant names	NC 000015.9:g.89876827 89876828delinsAG
ClinVar review status	criteria provided, conflicting interpretations
Clinical Significance	Conflicting interpretations of pathogenicity
Conflicting clinical significance	Uncertain significance(1)|Likely benign(2)
Variant type	Indel
Sequence Ontology for variant type	SO:1000032
Variant clinical sources reported	ClinGen:CA10602308
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001583|missense variant
Allele origin	germline
dbSNP ID	1064795981
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000153755; RCV000462442; RCV000676329; RCV001847784; RCV002312999;
Chromosome	15:89876828..89876830
ClinVar Allele ID	177971
Disease database name and identifier	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726|MeSH:D030342, MedGen:C0950123
ClinVar preferred disease name	not specified|not provided|Hereditary spastic paraplegia|Progressive sclerosing poliodystrophy|Inborn genetic diseases
HGVS variant names	NC 000015.9:g.89876828TGC[10]
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Benign/Likely benign
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Variant clinical sources reported	ClinGen:CA295632
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001822|inframe deletion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000153757; RCV000676331; RCV001080820; RCV002312682; RCV002492576;
Chromosome	15:89876828..89876833
ClinVar Allele ID	177973
Disease database name and identifier	MedGen:C3661900|MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0011835, MedGen:C1843851, OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726|MONDO:MONDO:0011283, MedGen:C4551995, OMIM:603041, Orphanet:298|MONDO:MONDO:0024528, MedGen:C1834846, OMIM:157640|MONDO:MONDO:0009783, MedGen:C4225153, OMIM:258450, Orphanet:254886|MONDO:MONDO:0013350, MedGen:C3150914, OMIM:613662, Orphanet:298|MedGen:CN169374
ClinVar preferred disease name	not provided|Inborn genetic diseases|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial DNA depletion syndrome 4b|not specified
HGVS variant names	NC 000015.9:g.89876828TGC[9]
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Benign/Likely benign
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Variant clinical sources reported	ClinGen:CA295636
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001822|inframe deletion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000188531; RCV000456895; RCV001196416; RCV001572826; RCV001847826; RCV002317143; RCV002503744;
Chromosome	15:89876828..89876836
ClinVar Allele ID	203057
Disease database name and identifier	MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0024528, MedGen:C1834846, OMIM:157640|MONDO:MONDO:0009783, MedGen:C4225153, OMIM:258450, Orphanet:254886|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726|MONDO:MONDO:0011283, MedGen:C4551995, OMIM:603041, Orphanet:298|MONDO:MONDO:0013350, MedGen:C3150914, OMIM:613662, Orphanet:298|MONDO:MONDO:0011835, MedGen:C1843851, OMIM:607459, Orphanet:70595|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685
ClinVar preferred disease name	Inborn genetic diseases|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 1|Mitochondrial DNA depletion syndrome 4b|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|not specified|not provided|Hereditary spastic paraplegia
HGVS variant names	NC 000015.9:g.89876828TGC[8]
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Benign/Likely benign
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Variant clinical sources reported	ClinGen:CA316616
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001822|inframe deletion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000188530; RCV000456165; RCV001200206; RCV001847825; RCV002317142;
Chromosome	15:89876828..89876839
ClinVar Allele ID	203059
Disease database name and identifier	MeSH:D030342, MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	Inborn genetic diseases|not specified|not provided|Hereditary spastic paraplegia|Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876828TGC[7]
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Benign/Likely benign
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Variant clinical sources reported	ClinGen:CA316614
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001822|inframe deletion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000188529; RCV000633535; RCV001795307; RCV002390496;
Chromosome	15:89876828..89876842
ClinVar Allele ID	203060
Disease database name and identifier	MeSH:D030342, MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	Inborn genetic diseases|not specified|not provided|Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876828TGC[6]
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Benign/Likely benign
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Variant clinical sources reported	ClinGen:CA316612
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001822|inframe deletion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000188528; RCV000230040; RCV002500575; RCV002514032; RCV003390916;
Chromosome	15:89876828..89876845
ClinVar Allele ID	203061
Disease database name and identifier	MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0024528, MedGen:C1834846, OMIM:157640|MONDO:MONDO:0009783, MedGen:C4225153, OMIM:258450, Orphanet:254886|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726|MONDO:MONDO:0011283, MedGen:C4551995, OMIM:603041, Orphanet:298|MONDO:MONDO:0013350, MedGen:C3150914, OMIM:613662, Orphanet:298|MONDO:MONDO:0011835, MedGen:C1843851, OMIM:607459, Orphanet:70595|MedGen:CN169374|.
ClinVar preferred disease name	Inborn genetic diseases|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 1|Mitochondrial DNA depletion syndrome 4b|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|not specified|POLG-related condition
HGVS variant names	NC 000015.9:g.89876828TGC[5]
ClinVar review status	criteria provided, conflicting interpretations
Clinical Significance	Conflicting interpretations of pathogenicity
Conflicting clinical significance	Uncertain significance(1)|Likely benign(5)
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Variant clinical sources reported	ClinGen:CA316610
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001822|inframe deletion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000374160; RCV001244117;
Chromosome	15:89876828..89876848
ClinVar Allele ID	273477
Disease database name and identifier	MedGen:CN169374|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	not specified|Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876828TGC[4]
ClinVar review status	criteria provided, conflicting interpretations
Clinical Significance	Conflicting interpretations of pathogenicity
Conflicting clinical significance	Uncertain significance(1)|Likely benign(1)
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Variant clinical sources reported	ClinGen:CA10606382
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001822|inframe deletion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV001532268; RCV001873775;
Chromosome	15:89876828..89876851
ClinVar Allele ID	1166152
Disease database name and identifier	MedGen:C3661900|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	not provided|Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876828TGC[3]
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Uncertain significance
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001822|inframe deletion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV001767088;
Chromosome	15:89876828..89876854
ClinVar Allele ID	1297406
Disease database name and identifier	MedGen:C3661900
ClinVar preferred disease name	not provided
HGVS variant names	NC 000015.9:g.89876828TGC[2]
ClinVar review status	criteria provided, single submitter
Clinical Significance	Uncertain significance
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001822|inframe deletion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000758544;
Chromosome	15:89876828..89876857
ClinVar Allele ID	610804
Disease database name and identifier	MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876828TGC[1]
ClinVar review status	criteria provided, conflicting interpretations
Clinical Significance	Conflicting interpretations of pathogenicity
Conflicting clinical significance	Uncertain significance(1)|Benign(1)
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001822|inframe deletion
Allele origin	germline
dbSNP ID	41550117
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000758286;
Chromosome	15:89876828..89876828
Allele frequencies from ExAC	0.00010
Allele frequencies from TGP	0.00040
ClinVar Allele ID	610803
Disease database name and identifier	MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726
ClinVar preferred disease name	Progressive sclerosing poliodystrophy
HGVS variant names	NC 000015.9:g.89876828T>G
ClinVar review status	criteria provided, single submitter
Clinical Significance	Uncertain significance
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Gene symbol:Gene id.	POLG:5428|POLGARF:125316803
Molecular consequence	SO:0001583|missense variant
Allele origin	germline
dbSNP ID	527965158
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None