Full data view for gene RNASEH2C

Information The variants shown are described using the NM_032193.3 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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-?/. - c.-10A>G r.(?) p.(=) Unknown - likely benign g.65488239T>C g.65720768T>C RNASEH2C(NM_032193.3):c.-10A>G, RNASEH2C(NM_032193.4):c.-10A>G - RNASEH2C_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10A>G r.(?) p.(=) Unknown - likely benign g.65488239T>C g.65720768T>C RNASEH2C(NM_032193.3):c.-10A>G, RNASEH2C(NM_032193.4):c.-10A>G - RNASEH2C_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.31A>G r.(?) p.(Arg11Gly) Unknown - likely benign g.65488199T>C - RNASEH2C(NM_032193.3):c.31A>G (p.R11G) - KAT5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.38G>A r.(?) p.(Arg13His) Both (homozygous) - pathogenic g.65488192C>T g.65720721C>T - - RNASEH2C_000003 - - - - Unknown - - - - - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.38G>A r.(?) p.(Arg13His) Paternal (inferred) - pathogenic g.65488192C>T g.65720721C>T - - RNASEH2C_000012 heterozygous RNASEH2B variant c.925dupA also present - - - Unknown - - - - - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
+/. 1 c.38G>A r.(?) p.(Arg13His) Parent #1 - pathogenic g.65488192C>T g.65720721C>T - - RNASEH2C_000012 - - - - Unknown - - - - - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 2 Lampros Mavrogiannis
+/. 1 c.38G>A r.(?) p.(Arg13His) Parent #1 - pathogenic g.65488192C>T g.65720721C>T - - RNASEH2C_000012 heterozygous RNASEH2B variant c.925dupA also present - - - Unknown - - - - - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
+/. 1 c.38G>A r.(?) p.(Arg13His) Maternal (inferred) - pathogenic g.65488192C>T g.65720721C>T - - RNASEH2C_000012 heterozygous RNASEH2B variant c.925dupA also present - - - Unknown - - - - - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
?/. - c.50G>C r.(?) p.(Arg17Pro) Unknown - VUS g.65488180C>G g.65720709C>G RNASEH2C(NM_032193.4):c.50G>C (p.R17P) - KAT5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.61T>C r.(?) p.(Leu21=) Unknown - likely benign g.65488169A>G g.65720698A>G RNASEH2C(NM_032193.3):c.61T>C (p.L21=) - RNASEH2C_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.69C>T r.(?) p.(Asp23=) Unknown - likely benign g.65488161G>A g.65720690G>A RNASEH2C(NM_032193.3):c.69C>T (p.D23=) - KAT5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.88C>T r.(?) p.(His30Tyr) Unknown - VUS g.65488142G>A g.65720671G>A RNASEH2C(NM_032193.3):c.88C>T (p.H30Y) - KAT5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.98C>G r.(?) p.(Pro33Arg) Paternal (confirmed) - likely pathogenic g.65488132G>C g.65720661G>C - - RNASEH2C_000015 - - - - Unknown - - - - - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
+/. 1 c.115G>T r.(?) p.(Asp39Tyr) Paternal (confirmed) - pathogenic g.65488115C>A g.65720644C>A - - RNASEH2C_000016 - - - - Unknown - - - - - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
+/. 2 c.115G>T+c.343_344delGA r.(?) p.(Asp39Tyr)+p.(Asp115Leufs*55) Unknown - pathogenic g.? - - - RNASEH2C_000010 compound heterozygous with c343_344delGA - - - Unknown - - - - - DNA SEQ - - AGS - {PMID 20131292:Ramantani 2010} - - - - - - - - - 1 Johan den Dunnen
-?/. - c.129G>A r.(?) p.(Pro43=) Unknown - likely benign g.65488101C>T - RNASEH2C(NM_032193.3):c.129G>A (p.P43=) - KAT5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.173-15C>T r.(=) p.(=) Unknown - likely benign g.65487903G>A g.65720432G>A RNASEH2C(NM_032193.3):c.173-15C>T - RNASEH2C_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.173-1G>C r.spl? p.? Maternal (confirmed) - pathogenic g.65487889C>G g.65720418C>G - - RNASEH2C_000017 - - - - Unknown - - - - - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
-?/. - c.178G>A r.(?) p.(Glu60Lys) Unknown - likely benign g.65487883C>T g.65720412C>T RNASEH2C(NM_032193.3):c.178G>A (p.E60K) - RNASEH2C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.196C>T r.(?) p.(Arg66Cys) Paternal (inferred) - likely pathogenic g.65487865G>A g.65720394G>A - - RNASEH2C_000019 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - - - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - ? - Turkish - - - - 2 Johan den Dunnen
+/. - c.202C>G r.(?) p.(Leu68Val) Unknown ACMG pathogenic g.65487859G>C g.65720388G>C - - RNASEH2C_000030 - - - - Germline - - - - - DNA SEQ - - ? RNASEH2C - - - - - - - - - - 1 Muhammad Umair
+/. 2 c.205C>T r.(?) p.(Arg69Trp) Both (homozygous) - pathogenic g.65487856G>A g.65720385G>A - - RNASEH2C_000001 - - - - Unknown - - - - - DNA SEQ - - AGS - {PMID16845400:Crow 2006} - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.205C>T r.(?) p.(Arg69Trp) Both (homozygous) - pathogenic g.65487856G>A g.65720385G>A - - RNASEH2C_000004 - - - - Unknown - - - - - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - - - - - - 1 Johan den Dunnen
+/. - c.205C>T r.(?) p.(Arg69Trp) Both (homozygous) - pathogenic g.65487856G>A g.65720385G>A - - RNASEH2C_000009 - - - - Unknown - - - - - DNA SEQ - - AGS - {PMID 20131292:Ramantani 2010} - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.205C>T r.(?) p.(Arg69Trp) Both (homozygous) - pathogenic g.65487856G>A g.65720385G>A - - RNASEH2C_000011 - - - - Unknown - - - - - DNA SEQ - - AGS - {PMID 20131292:Ramantani 2010} - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.205C>T r.(?) p.(Arg69Trp) Paternal (confirmed) - pathogenic g.65487856G>A g.65720385G>A - - RNASEH2C_000001 - - - - Germline - - - - - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 3 Lampros Mavrogiannis
+/. 2 c.205C>T r.(?) p.(Arg69Trp) Maternal (confirmed) - pathogenic g.65487856G>A g.65720385G>A - - RNASEH2C_000001 - - - - Germline - - - - - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 3 Lampros Mavrogiannis
+/. 2 c.205C>T r.(?) p.(Arg69Trp) Parent #2 - pathogenic g.65487856G>A g.65720385G>A - - RNASEH2C_000001 - - - - Unknown - - - - - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 2 Lampros Mavrogiannis
+/. - c.205C>T r.(?) p.(Arg69Trp) Both (homozygous) - pathogenic (recessive) g.65487856G>A g.65720385G>A - - RNASEH2C_000001 - PubMed: Hebbar 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES AGS Fam1 PubMed: Hebbar 2018 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes India - - - - - 2 Johan den Dunnen
+/. - c.205C>T r.(?) p.(Arg69Trp) Both (homozygous) - pathogenic (recessive) g.65487856G>A g.65720385G>A - - RNASEH2C_000001 - PubMed: Hebbar 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES AGS Fam2 PubMed: Hebbar 2018 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes India - - - - - 2 Johan den Dunnen
+/. - c.205C>T r.(?) p.(Arg69Trp) Both (homozygous) - pathogenic (recessive) g.65487856G>A g.65720385G>A - - RNASEH2C_000001 - PubMed: Hebbar 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES AGS Fam3 PubMed: Hebbar 2018 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes India - - - - - 2 Johan den Dunnen
+/. - c.205C>T r.(?) p.(Arg69Trp) Both (homozygous) - pathogenic (recessive) g.65487856G>A - 205G>A - RNASEH2C_000001 - PubMed: Mahler 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Pat7 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Germany - - - - - 1 Johan den Dunnen
+/. - c.205C>T r.(?) p.(Arg69Trp) Both (homozygous) ACMG pathogenic g.65487856G>A - - - RNASEH2C_000001 - - - - Germline - - - - - DNA SEQ-NG - - AGS, NDMSCA - - - - - - - - - - - 1 Anju Shukla
+/. 2 c.205C>T r.(?) p.(Arg69Trp) Both (homozygous) - pathogenic g.65487856G>A g.65720385G>A - - RNASEH2C_000001 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1987 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.205C>T r.(?) p.(Arg69Trp) Unknown - pathogenic g.65487856G>A g.65720385G>A - - RNASEH2C_000001 no variant 2nd chromosome PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4256 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.205C>T r.(?) p.(Arg69Trp) Both (homozygous) - pathogenic g.65487856G>A g.65720385G>A - - RNASEH2C_000001 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2825 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. - c.205C>T r.(?) p.(Arg69Trp) Both (homozygous) ACMG likely pathogenic (recessive) g.65487856G>A g.65720385G>A - - RNASEH2C_000001 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8500033 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes - Baloch - - - - 2 Johan den Dunnen
+/. 3 c.227C>T r.(?) p.(Pro76Leu) Both (homozygous) - pathogenic g.65487834G>A g.65720363G>A - - RNASEH2C_000005 - - - - Unknown - - - - - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - - - - - - 1 Johan den Dunnen
-?/. - c.235C>G r.(?) p.(Leu79Val) Unknown - likely benign g.65487826G>C - RNASEH2C(NM_032193.3):c.235C>G (p.L79V) - KAT5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.268_270del r.(?) p.(Lys90del) Parent #1 - likely benign g.65487796_65487798del g.65720325_65720327del - - RNASEH2C_000014 heterozygous variant - - - Unknown - - - - - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 2 Lampros Mavrogiannis
?/. - c.268_270del r.(?) p.(Lys90del) Unknown - VUS g.65487796_65487798del g.65720325_65720327del RNASEH2C(NM_032193.3):c.268_270delAAG (p.K90del) - RNASEH2C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.268_270del r.(?) p.(Lys90del) Unknown - benign g.65487796_65487798del g.65720325_65720327del RNASEH2C(NM_032193.3):c.268_270delAAG (p.K90del) - RNASEH2C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292C>G r.(?) p.(Pro98Ala) Unknown - VUS g.65487769G>C g.65720298G>C RNASEH2C(NM_032193.3):c.292C>G (p.P98A), RNASEH2C(NM_032193.4):c.292C>G (p.P98A) - RNASEH2C_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292C>G r.(?) p.(Pro98Ala) Unknown - VUS g.65487769G>C - RNASEH2C(NM_032193.3):c.292C>G (p.P98A), RNASEH2C(NM_032193.4):c.292C>G (p.P98A) - RNASEH2C_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292C>T r.(?) p.(Pro98Ser) Unknown - VUS g.65487769G>A - RNASEH2C(NM_032193.4):c.292C>T (p.P98S) - KAT5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.306C>T r.(?) p.(Ser102=) Unknown - likely benign g.65487755G>A g.65720284G>A RNASEH2C(NM_032193.3):c.306C>T (p.S102=) - KAT5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.328_330del r.(?) p.(Glu110del) Unknown - VUS g.65487737_65487739del - RNASEH2C(NM_032193.3):c.328_330delGAG (p.E110del) - KAT5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.348+6C>T r.(=) p.(=) Unknown - VUS g.65487707G>A - RNASEH2C(NM_032193.3):c.348+6C>T (p.?) - KAT5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.358A>G r.(?) p.(Ile120Val) Unknown - likely benign g.65487626T>C g.65720155T>C RNASEH2C(NM_032193.3):c.358A>G (p.I120V), RNASEH2C(NM_032193.4):c.358A>G (p.(Ile120Val)) - RNASEH2C_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.358A>G r.(?) p.(Ile120Val) Unknown - likely benign g.65487626T>C - RNASEH2C(NM_032193.3):c.358A>G (p.I120V), RNASEH2C(NM_032193.4):c.358A>G (p.(Ile120Val)) - RNASEH2C_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.358A>G r.(?) p.(Ile120Val) Unknown - VUS g.65487626T>C - RNASEH2C(NM_032193.3):c.358A>G (p.I120V), RNASEH2C(NM_032193.4):c.358A>G (p.(Ile120Val)) - RNASEH2C_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.401T>C r.(?) p.(Leu134Pro) Paternal (inferred) - likely pathogenic g.65487583A>G g.65720112A>G - - RNASEH2C_000020 - - - - Unknown - - - - - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - - - - - - - - 1 Johan den Dunnen
+?/+? 3 c.401T>C r.(?) p.(Leu134Pro) Maternal (inferred) - likely pathogenic g.65487583A>G g.65720112A>G - - RNASEH2C_000020 - - - - Unknown - - - - - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.412C>T r.(?) p.(Pro138Ser) Both (homozygous) - pathogenic g.65487572G>A g.65720101G>A - - RNASEH2C_000006 - - - - Unknown - - - - - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - - - - - - 1 Johan den Dunnen
+?/. - c.412C>T r.(?) p.(Pro138Ser) Both (homozygous) ACMG likely pathogenic (recessive) g.65487572G>A g.65720101G>A - - RNASEH2C_000006 ACMG PM2, PM5, PP3 PubMed: Marinakis 2021 - rs77834781 Germline - - - - - DNA SEQ, SEQ-NG - WES ? 20024 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+?/. - c.412C>T r.(?) p.(Pro138Ser) Both (homozygous) ACMG likely pathogenic (recessive) g.65487572G>A g.65720101G>A - - RNASEH2C_000006 ACMG PM2, PM5, PP3 PubMed: Marinakis 2021 - rs77834781 Germline - - - - - DNA SEQ, SEQ-NG - WES ? 20177 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
-?/. - c.417C>G r.(?) p.(Gly139=) Unknown - likely benign g.65487567G>C g.65720096G>C RNASEH2C(NM_032193.3):c.417C>G (p.G139=), RNASEH2C(NM_032193.4):c.417C>G (p.G139=) - RNASEH2C_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417C>G r.(?) p.(Gly139=) Unknown - likely benign g.65487567G>C g.65720096G>C RNASEH2C(NM_032193.3):c.417C>G (p.G139=), RNASEH2C(NM_032193.4):c.417C>G (p.G139=) - RNASEH2C_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.428A>T r.(?) p.(Lys143Ile) Both (homozygous) - pathogenic g.65487556T>A g.65720085T>A - - RNASEH2C_000002 - - - - Unknown - - - - - DNA SEQ - - AGS - {PMID16845400:Crow 2006} - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.428A>T r.(?) p.(Lys143Ile) Both (homozygous) - pathogenic g.65487556T>A g.65720085T>A - - RNASEH2C_000007 - - - - Unknown - - - - - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - - - - - - 1 Johan den Dunnen
+/. - c.450G>T r.(?) p.(Trp150Cys) Parent #1 - pathogenic (recessive) g.65487534C>A g.65720063C>A - - RNASEH2C_000031 - PubMed: Salinas 2020 SUB7803432 - Germline - - - - - DNA SEQ-NG - WES ? Pat97 PubMed: Salinas 2020 patient M - - - - - - - 1 Johan den Dunnen
+/. 2 c.451C>T r.(?) p.(Pro151Ser) Both (homozygous) - pathogenic g.65487533G>A g.65720062G>A - - RNASEH2C_000008 - - - - Unknown - - - - - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - - - - - - 1 Johan den Dunnen
+?/. 3 c.451C>T r.(?) p.(Pro151Ser) Maternal (confirmed) - likely pathogenic g.65487533G>A g.65720062G>A - - RNASEH2C_000008 - - - - Unknown - - - - - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
-?/. - c.468G>T r.(?) p.(Ala156=) Unknown - likely benign g.65487516C>A g.65720045C>A RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=) - RNASEH2C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468G>T r.(?) p.(Ala156=) Unknown - likely benign g.65487516C>A g.65720045C>A RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=) - RNASEH2C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468G>T r.(?) p.(Ala156=) Unknown - likely benign g.65487516C>A g.65720045C>A RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=) - RNASEH2C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468G>T r.(?) p.(Ala156=) Unknown - likely benign g.65487516C>A g.65720045C>A RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=) - RNASEH2C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.468+5G>A r.spl? p.? Unknown - VUS g.65487511C>T g.65720040C>T RNASEH2C(NM_032193.3):c.468+5G>A - KAT5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468+8G>A r.(=) p.(=) Unknown - likely benign g.65487508C>T - RNASEH2C(NM_032193.3):c.468+8G>A - KAT5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468+8G>C r.(=) p.(=) Unknown - likely benign g.65487508C>G g.65720037C>G RNASEH2C(NM_032193.3):c.468+8G>C - KAT5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468+13G>A r.(=) p.(=) Unknown - likely benign g.65487503C>T g.65720032C>T RNASEH2C(NM_032193.3):c.468+13G>A - KAT5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468+13G>A r.(=) p.(=) Unknown - likely benign g.65487503C>T g.65720032C>T RNASEH2C(NM_032193.3):c.468+13G>A - KAT5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3i c.468+14G>T r.(?) p.(=) Parent #1 - likely benign g.65487502C>A g.65720031C>A - - RNASEH2C_000013 heterozygous variant - - - Unknown - - - - - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
-?/. - c.469-5T>C r.spl? p.? Unknown - likely benign g.65487285A>G g.65719814A>G RNASEH2C(NM_032193.3):c.469-5T>C - RNASEH2C_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.483dup r.(?) p.(Pro162Alafs*9) Parent #2 - likely pathogenic g.65487266dup g.65719795dup - - RNASEH2C_000018 heterozygous RNASEH2B variant c.925dupA also present - - - Unknown - - - - - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
-?/. - c.*3029C>T r.(=) p.(=) Unknown - likely benign g.65484225G>A - KAT5(NM_182710.2):c.1117G>A (p.(Val373Ile)) - KAT5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6284G>A r.(=) p.(=) Unknown - VUS g.65480970C>T - KAT5(NM_182710.2):c.536C>T (p.(Ser179Leu)) - KAT5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6378G>A r.(=) p.(=) Unknown - VUS g.65480876C>T - KAT5(NM_006388.4):c.343C>T (p.R115C) - KAT5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6414C>T r.(=) p.(=) Unknown - VUS g.65480840G>A - KAT5(NM_006388.4):c.307G>A (p.G103R) - KAT5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7524C>T r.(=) p.(=) Unknown - likely benign g.65479730G>A - KAT5(NM_182710.2):c.-9G>A (p.?) - KAT5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9441G>A r.(=) p.(=) Unknown - likely benign g.65477813C>T - KAT5(NM_182710.3):c.-1926C>T - KAT5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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