Full data view for gene RNU6-2

Information The variants shown are described using the NR_125730.1 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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     
-?/. - n.4C>T r.(4C>T) - Unknown - likely benign g.1021524C>T g.1021525C>T - - RNU6-2_000001 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
?/. - n.12G>T r.(12G>T) - Unknown - VUS g.1021532G>T g.1021533G>T - - RNU6-2_000002 ACMG PM2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.16G>A r.(16G>A) - Unknown - likely benign g.1021536G>A g.1021537G>A - - RNU6-2_000003 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.17C>T r.(17C>T) - Unknown - likely benign g.1021537C>T g.1021538C>T - - RNU6-2_000004 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.33_34insT r.(33_34insT) - Unknown - likely benign g.1021553_1021554insT g.1021554_1021555insT - - RNU6-2_000005 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 6 RP families - - - - - - - - 6 Johan den Dunnen
-?/. - n.37C>T r.(37C>T) - Unknown - likely benign g.1021557C>T g.1021558C>T - - RNU6-2_000006 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.46G>A r.(46G>A) - Unknown - likely benign g.1021566G>A g.1021567G>A - - RNU6-2_000007 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
?/. - n.54G>A r.(54G>A) - Unknown - VUS g.1021574G>A g.1021575G>A - - RNU6-2_000008 ACMG PM2, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.54_55insT r.(54_55insT) - Unknown - likely benign g.1021574_1021575insT g.1021575_1021576insT - - RNU6-2_000009 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 4 RP families - - - - - - - - 4 Johan den Dunnen
+/. - n.55_56insG r.(55_56insG) - Unknown ACMG pathogenic (dominant) g.1021575_1021576insG g.1021576_1021577insG - - RNU6-2_000010 ACMG PS3, PS4, PM2, PM6, PP3; suspected de novo Journal: Quinodoz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - Genomics England RP RNU6-2-FamA Journal: Quinodoz 2025 2-generation family, 1 affected, unaffected parents - - United Kingdom (Great Britain) white - - - - 1 Susanne Roosing
+/. - n.55_56insG r.(55_56insG) - Unknown ACMG pathogenic (dominant) g.1021575_1021576insG g.1021576_1021577insG - - RNU6-2_000010 ACMG PS3, PS4, PM2, PM6, PP3; suspected de novo Journal: Quinodoz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - Genomics England RP RNU6-2-FamB Journal: Quinodoz 2025 2-generation family, 1 affected, unaffected parents - - United Kingdom (Great Britain) - - - - - 1 Susanne Roosing
+/. - n.55_56insG r.(55_56insG) - Unknown ACMG pathogenic (dominant) g.1021575_1021576insG g.1021576_1021577insG - - RNU6-2_000010 ACMG PS3, PS4, PM2, PM6, PP3 Journal: Quinodoz 2025 - - De novo - - - - - DNA SEQ-NG - Genomics England RP RNU6-2-FamC Journal: Quinodoz 2025 2-generation family, 1 affected, unaffected non carrier parents - - United Kingdom (Great Britain) India;Asia - - - - 1 Susanne Roosing
+/. - n.55_56insG r.(55_56insG) - Parent #1 ACMG pathogenic (dominant) g.1021575_1021576insG g.1021576_1021577insG - - RNU6-2_000010 ACMG PS3, PS4, PM2, PM6, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ-NG - Genomics England RP RNU6-2-FamD Journal: Quinodoz 2025 family, 7 affected - - United Kingdom (Great Britain) white - - - - 7 Susanne Roosing
+/. - n.55_56insG r.(55_56insG) - Unknown ACMG pathogenic (dominant) g.1021575_1021576insG g.1021576_1021577insG - - RNU6-2_000010 ACMG PS3, PS4, PM2, PM6, PP3 Journal: Quinodoz 2025 - - De novo - - - - - DNA SEQ-NG - Genomics England RP RNU6-2-FamE Journal: Quinodoz 2025 2-generation family, 1 affected, unaffected non carrier parents - - United Kingdom (Great Britain) - - - - - 1 Susanne Roosing
+/. - n.55_56insG r.(55_56insG) - Parent #1 ACMG pathogenic (dominant) g.1021575_1021576insG g.1021576_1021577insG - - RNU6-2_000010 ACMG PS3, PS4, PM2, PM6, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP RNU6-2-FamF Journal: Quinodoz 2025 family, 5 affected - - Italy - - - - - 5 Susanne Roosing
+/. - n.55_56insG r.(55_56insG) - Parent #1 ACMG pathogenic (dominant) g.1021575_1021576insG g.1021576_1021577insG - - RNU6-2_000010 ACMG PS3, PS4, PM2, PM6, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP RNU6-2-FamG Journal: Quinodoz 2025 family, 2 affected - - Germany - - - - - 2 Susanne Roosing
+/. - n.55_56insG r.(55_56insG) - Parent #1 ACMG pathogenic (dominant) g.1021575_1021576insG g.1021576_1021577insG - - RNU6-2_000010 ACMG PS3, PS4, PM2, PM6, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP RNU6-2-FamH Journal: Quinodoz 2025 family, 1 affected, unaffected parents - - England;China;Canada;Russia - - - - - 1 Susanne Roosing
+/. - n.55_56insG r.(55_56insG) - Unknown ACMG pathogenic (dominant) g.1021575_1021576insG g.1021576_1021577insG - - RNU6-2_000010 ACMG PS3, PS4, PM2, PM6, PP3 Journal: Quinodoz 2025 - - De novo - - - - - DNA SEQ - - RP RNU6-2-FamI Journal: Quinodoz 2025 2-generation family, 1 affected, unaffected non carrier parents - - Italy - - - - - 1 Susanne Roosing
+/. - n.55_56insG r.(55_56insG) - Parent #1 ACMG pathogenic (dominant) g.1021575_1021576insG g.1021576_1021577insG - - RNU6-2_000010 ACMG PS3, PS4, PM2, PM6, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP RNU6-2-FamJ Journal: Quinodoz 2025 family, 11 affected - - Poland - - - - - 11 Susanne Roosing
+/. - n.55_56insG r.(55_56insG) - Parent #1 ACMG pathogenic (dominant) g.1021575_1021576insG g.1021576_1021577insG - - RNU6-2_000010 ACMG PS3, PS4, PM2, PM6, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP RNU6-2-FamK Journal: Quinodoz 2025 family, 4 affected - - Czech Republic - - - - - 4 Susanne Roosing
+/. - n.55_56insG r.(55_56insG) - Parent #1 ACMG pathogenic (dominant) g.1021575_1021576insG g.1021576_1021577insG - - RNU6-2_000010 ACMG PS3, PS4, PM2, PM6, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP RNU6-2-FamL Journal: Quinodoz 2025 family, 7 affected - - Belgium - - - - - 7 Susanne Roosing
+/. - n.55_56insG r.(55_56insG) - Unknown ACMG pathogenic (dominant) g.1021575_1021576insG g.1021576_1021577insG - - RNU6-2_000010 ACMG PS3, PS4, PM2, PM6, PP3; suspected de novo Journal: Quinodoz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS RP RNU6-2-FamM Journal: Quinodoz 2025 2-generation family, 1 affected, unaffected parents - - Belgium - - - - - 1 Susanne Roosing
+?/. - n.56_57insG r.(56_57insG) - Parent #1 ACMG likely pathogenic (dominant) g.1021576_1021577insG g.1021577_1021578insG - - RNU6-2_000011 ACMG PS3, PP1, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP RNU6-2-FamN Journal: Quinodoz 2025 family, 3 affected - - Mexico - - - - - 3 Susanne Roosing
-?/. - n.57dup r.(57dup) - Unknown - likely benign g.1021577dup g.1021578dup - - RNU6-2_000012 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.60C>T r.(60C>T) - Unknown - likely benign g.1021580C>T g.1021581C>T - - RNU6-2_000013 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.71G>A r.(71G>A) - Unknown - likely benign g.1021591G>A g.1021592G>A - - RNU6-2_000014 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.77C>T r.(77C>T) - Unknown - likely benign g.1021597C>T g.1021598C>T - - RNU6-2_000015 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
?/. - n.95G>C r.(95G>C) - Unknown - VUS g.1021615G>C g.1021616G>C - - RNU6-2_000016 ACMG PM2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.97T>A r.(97T>A) - Unknown - likely benign g.1021617T>A g.1021618T>A - - RNU6-2_000017 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 2 RP families - - - - - - - - 2 Johan den Dunnen
-?/. - n.100A>G r.(100A>G) - Unknown - likely benign g.1021620A>G g.1021621A>G - - RNU6-2_000018 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 6 RP families - - - - - - - - 6 Johan den Dunnen
-?/. - n.101T>C r.(101T>C) - Unknown - likely benign g.1021621T>C g.1021622T>C - - RNU6-2_000019 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 2 RP families - - - - - - - - 2 Johan den Dunnen
-?/. - n.102A>G r.(102A>G) - Unknown - likely benign g.1021622A>G g.1021623A>G - - RNU6-2_000020 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.103T>C r.(103T>C) - Unknown - likely benign g.1021623T>C g.1021624T>C - - RNU6-2_000021 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.104T>C r.(104T>C) - Unknown - likely benign g.1021624T>C g.1021625T>C - - RNU6-2_000022 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.106T>C r.(106T>C) - Unknown - likely benign g.1021626T>C g.1021627T>C - - RNU6-2_000023 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 18 RP families - - - - - - - - 18 Johan den Dunnen
-?/. - n.107T>C r.(107T>C) - Unknown - likely benign g.1021627T>C g.1021628T>C - - RNU6-2_000024 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 281 RP families - - - - - - - - 281 Johan den Dunnen
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