Full data view for gene POLG2

Information The variants shown are described using the NM_007215.3 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.96G>A r.(?) p.(Leu32=) Unknown - likely benign g.62492991C>T - POLG2(NM_007215.3):c.96G>A (p.L32=) - DDX5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.255G>C r.(?) p.(Gln85His) Unknown - likely benign g.62492832C>G - POLG2(NM_007215.3):c.255G>C (p.(Gln85His)) - DDX5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.320G>A r.(?) p.(Arg107Gln) Unknown - VUS g.62492767C>T g.64496649C>T - - DDX5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.328C>G r.(?) p.(Leu110Val) Unknown - likely benign g.62492759G>C - POLG2(NM_007215.4):c.328C>G (p.L110V) - DDX5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.493G>T r.(?) p.(Glu165*) Unknown - pathogenic g.62492594C>A - - - DDX5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.505G>A r.(?) p.(Ala169Thr) Unknown - benign g.62492582C>T g.64496464C>T POLG2(NM_007215.4):c.505G>A (p.A169T) - POLG2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.505G>A r.(?) p.(Ala169Thr) Unknown - benign g.62492582C>T g.64496464C>T POLG2(NM_007215.4):c.505G>A (p.A169T) - POLG2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.694G>A r.(?) p.(Gly232Ser) Unknown - likely benign g.62488885C>T g.64492768C>T - - POLG2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.713C>T r.(?) p.(Ser238Leu) Unknown - VUS g.62488866G>A - POLG2(NM_007215.4):c.713C>T (p.(Ser238Leu)) - POLG2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.734C>T r.(?) p.(Pro245Leu) Unknown - VUS g.62488845G>A - POLG2(NM_007215.4):c.734C>T (p.(Pro245Leu)) - POLG2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.748C>T r.(?) p.(Gln250*) Unknown ACMG pathogenic (dominant) g.62488831G>A g.64492714G>A - - POLG2_000013 ACMG PVS1,PM2,PP3 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat48 PubMed: Chuan 2022 - M - China - - - - - 1 Johan den Dunnen
+?/. - c.798T>G r.(?) p.(Phe266Leu) Unknown ACMG likely pathogenic (dominant) g.62487084A>C g.64490967A>C - - POLG2_000014 ACMG PM1,PM2,PP3,PP4 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat92 PubMed: Chuan 2022 - M - China - - - - - 1 Johan den Dunnen
?/. - c.982C>T r.(?) p.(Arg328*) Unknown - VUS g.62481973G>A - POLG2(NM_007215.3):c.982C>T (p.R328*) - POLG2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.983G>A r.(?) p.(Arg328Gln) Unknown - VUS g.62481972C>T g.64485855C>T POLG2(NM_007215.4):c.983G>A (p.R328Q) - POLG2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1105A>G r.(?) p.(Arg369Gly) Parent #1 - likely benign g.62481850T>C g.64485733T>C - - POLG2_000009 116 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201936720 Germline - 116/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 116 Mohammed Faruq
-?/. - c.1105A>G r.(?) p.(Arg369Gly) Both (homozygous) - likely benign g.62481850T>C g.64485733T>C - - POLG2_000009 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201936720 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.1105A>G r.(?) p.(Arg369Gly) Unknown ACMG pathogenic (dominant) g.62481850T>C - R369G - POLG2_000009 - PubMed: Lieber 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel ? Pat1019 PubMed: Lieber 2013 patient, 3 affected sibs F - United States - - - - - 1 Johan den Dunnen
?/. 5 c.1105A>G r.(?) p.(Arg369Gly) Unknown - VUS g.62481850T>C g.64485733T>C - - POLG2_000009 - - ClinVar-RCV000198981.2 rs201936720 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1334 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.1109A>G r.(?) p.(Lys370Arg) Unknown - VUS g.62481846T>C g.64485729T>C - - POLG2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1158T>G r.(?) p.(Asp386Glu) Unknown - benign g.62479069A>C g.64482952A>C POLG2(NM_007215.4):c.1158T>G (p.D386E) - POLG2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1191+7dup r.(=) p.(=) Unknown - benign g.62479030dup g.64482913dup POLG2(NM_007215.4):c.1191+7dupT - POLG2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1217T>C r.(?) p.(Leu406Ser) Maternal (confirmed) - VUS g.62476481A>G - - - POLG2_000011 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ-NG - - ? Pat18 PubMed: Thomas 2022 no family history - no France - - - - - 1 Johan den Dunnen
-/. - c.1247G>C r.(?) p.(Gly416Ala) Parent #1 - benign g.62476451C>G g.64480334C>G - - POLG2_000001 suspected POLG2-mutation - - rs17850455 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1247G>C r.(?) p.(Gly416Ala) Unknown - benign g.62476451C>G - POLG2(NM_007215.4):c.1247G>C (p.G416A) - POLG2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1269C>T r.(?) p.(Ser423=) Unknown - benign g.62476429G>A g.64480312G>A - - POLG2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1319C>T r.(?) p.(Thr440Ile) Unknown - VUS g.62474079G>A - POLG2(NM_007215.4):c.1319C>T (p.(Thr440Ile)) - chr17_011048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1379C>T r.(?) p.(Thr460Ile) Unknown - VUS g.62474019G>A - POLG2(NM_007215.4):c.1379C>T (p.(Thr460Ile)) - POLG2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1458G>T r.(?) p.(*486Tyrext*6) Unknown - VUS g.62473940C>A - - - POLG2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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