All variants in the UBQLN2 gene

Information The variants shown are described using the NM_013444.3 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.32C>G r.(?) p.(Pro11Arg) - VUS g.56590338C>G - UBQLN2(NM_013444.3):c.32C>G (p.P11R) - UBQLN2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.82G>C r.(?) p.(Ala28Pro) - likely benign g.56590388G>C - UBQLN2(NM_013444.3):c.82G>C (p.A28P) - UBQLN2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.186G>A r.(?) p.(Ser62=) - likely benign g.56590492G>A g.56564059G>A UBQLN2(NM_013444.3):c.186G>A (p.S62=) - UBQLN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.364A>G r.(?) p.(Asn122Asp) - likely benign g.56590670A>G g.56564237A>G UBQLN2(NM_013444.3):c.364A>G (p.N122D) - UBQLN2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.394A>G r.(?) p.(Asn132Asp) - likely benign g.56590700A>G g.56564267A>G UBQLN2(NM_013444.3):c.394A>G (p.N132D) - UBQLN2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.432G>T r.(?) p.(Gly144=) - benign g.56590738G>T g.56564305G>T UBQLN2(NM_013444.3):c.432G>T (p.G144=) - UBQLN2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.562A>T r.(?) p.(Asn188Tyr) - VUS g.56590868A>T - UBQLN2(NM_013444.3):c.562A>T (p.N188Y) - UBQLN2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.583C>A r.(?) p.(Leu195Ile) - VUS g.56590889C>A - - - UBQLN2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.594C>T r.(?) p.(Pro198=) - likely benign g.56590900C>T - UBQLN2(NM_013444.3):c.594C>T (p.P198=) - UBQLN2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.636G>A r.(?) p.(Gln212=) - likely benign g.56590942G>A g.56564509G>A UBQLN2(NM_013444.3):c.636G>A (p.Q212=) - UBQLN2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.636G>A r.(?) p.(Gln212=) - likely benign g.56590942G>A g.56564509G>A UBQLN2(NM_013444.3):c.636G>A (p.Q212=) - UBQLN2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 c.942T>A r.(?) p.(Asp314Glu) - VUS g.56591248T>A g.56564815T>A - - UBQLN2_000003 - PubMed: Kim 2014, Journal: Kim 2014 - rs201122014 Germline - 1/258 cases - 0 - Jamie Zeegers
?/. 1 c.942T>A r.(?) p.(Asp314Glu) - VUS g.56591248T>A g.56564815T>A - - UBQLN2_000003 - PubMed: Kim 2014, Journal: Kim 2014 - rs201122014 Germline - 1/258 cases - 0 - Jamie Zeegers
?/. 1 c.942T>A r.(?) p.(Asp314Glu) - VUS g.56591248T>A g.56564815T>A - - UBQLN2_000003 - PubMed: Kim 2014, Journal: Kim 2014 - rs201122014 Germline - 5/727 controls - 0 - Johan den Dunnen
-?/. - c.970C>T r.(?) p.(Pro324Ser) - likely benign g.56591276C>T - UBQLN2(NM_013444.3):c.970C>T (p.P324S) - UBQLN2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1019G>T r.(?) p.(Ser340Ile) - VUS g.56591325G>T - UBQLN2(NM_013444.3):c.1019G>T (p.S340I) - UBQLN2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1019G>T r.(?) p.(Ser340Ile) - pathogenic g.56591325G>T g.56564892G>T S340I - UBQLN2_000020 - PubMed: Jiang 2022 - - Germline - 1/486 cases - 0 - Johan den Dunnen
+/. - c.1019G>T r.(?) p.(Ser340Ile) - pathogenic g.56591325G>T g.56564892G>T S340I - UBQLN2_000020 - PubMed: Jiang 2022 - - Germline - 1/486 cases - 0 - Johan den Dunnen
+/. - c.1019G>T r.(?) p.(Ser340Ile) - pathogenic g.56591325G>T g.56564892G>T S340I - UBQLN2_000020 - PubMed: Jiang 2022 - - Germline - 1/486 cases - 0 - Johan den Dunnen
+/. - c.1019G>T r.(?) p.(Ser340Ile) - pathogenic g.56591325G>T g.56564892G>T S340I - UBQLN2_000020 - PubMed: Jiang 2022 - - Germline - >1/309 cases - 0 - Johan den Dunnen
-?/. - c.1173C>T r.(?) p.(Tyr391=) - likely benign g.56591479C>T g.56565046C>T UBQLN2(NM_013444.3):c.1173C>T (p.Y391=) - UBQLN2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.1176G>H r.(?) p.(Met392Ile) - pathogenic g.56591482G>H g.56565049G>H M392I - UBQLN2_000024 - PubMed: Jiang 2022 - - Germline - >1/309 cases - 0 - Johan den Dunnen
+/. - c.1176G>H r.(?) p.(Met392Ile) - pathogenic g.56591482G>H g.56565049G>H M392I - UBQLN2_000024 - PubMed: Jiang 2022 - - Germline - >1/309 cases - 0 - Johan den Dunnen
?/. - c.1290C>G r.(?) p.(Leu430=) - VUS g.56591596C>G g.56565163C>G UBQLN2(NM_013444.3):c.1290C>G (p.L430=) - UBQLN2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1318C>A r.(?) p.(Pro440Thr) - VUS g.56591624C>A - UBQLN2(NM_013444.3):c.1318C>A (p.P440T) - UBQLN2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1383G>A r.(?) p.(Gly461=) - likely benign g.56591689G>A g.56565256G>A UBQLN2(NM_013444.3):c.1383G>A (p.G461=) - UBQLN2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1383G>A r.(=) p.(=) - likely benign g.56591689G>A g.56565256G>A G461G - UBQLN2_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.1383G>A r.(?) p.(Gly461=) - likely benign g.56591689G>A g.56565256G>A UBQLN2(NM_013444.3):c.1383G>A (p.G461=) - UBQLN2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1420C>G r.(?) p.(Pro474Ala) - likely benign g.56591726C>G g.56565293C>G UBQLN2(NM_013444.3):c.1420C>G (p.P474A) - UBQLN2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.1420C>G r.(?) p.(Pro474Ala) - VUS g.56591726C>G - UBQLN2(NM_013444.3):c.1420C>G (p.P474A) - UBQLN2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1461C>A r.(?) p.(Thr487=) - likely benign g.56591767C>A g.56565334C>A UBQLN2(NM_013444.3):c.1461C>A (p.T487=) - UBQLN2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1461C>A r.(?) p.(Thr487=) - benign g.56591767C>A g.56565334C>A UBQLN2(NM_013444.3):c.1461C>A (p.T487=) - UBQLN2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1461C>A r.(?) p.(Thr487=) - benign g.56591767C>A g.56565334C>A UBQLN2(NM_013444.3):c.1461C>A (p.T487=) - UBQLN2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1461C>A r.(=) p.(=) - likely benign g.56591767C>A g.56565334C>A T487T - UBQLN2_000011 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
+/. - c.1490C>A r.(?) p.(Pro497His) ACMG pathogenic g.56591796C>A g.56565363C>A - - UBQLN2_000015 ACMG: PS3,PM2,PM5,PP1,PP3 - - rs387906709 Germline - - - 0 - Andreas Laner
+/. - c.1516C>T r.(?) p.(Pro506Ser) - pathogenic g.56591822C>T g.56565389C>T P506S - UBQLN2_000025 - PubMed: Jiang 2022 - - Germline - 1/486 cases - 0 - Johan den Dunnen
-?/. - c.1573C>T r.(?) p.(Pro525Ser) - likely benign g.56591879C>T - UBQLN2(NM_013444.3):c.1573C>T (p.P525S) - UBQLN2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1573C>T r.(?) p.(Pro525Ser) - pathogenic g.56591879C>T g.56565446C>T P525S - UBQLN2_000017 - PubMed: Jiang 2022 - - Germline - 1/486 cases - 0 - Johan den Dunnen
?/. - c.1602G>A r.(?) p.(Thr534=) - VUS g.56591908G>A g.56565475G>A UBQLN2(NM_013444.3):c.1602G>A (p.T534=) - UBQLN2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query