Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 38905 single nucleotide variant NM_013444.3(UBQLN2):c.1490C>A (p.Pro497His) 387906709 MedGen:C3275459,OMIM:300857 X 56591796 56591796 C A 38905 single nucleotide variant NM_013444.3(UBQLN2):c.1490C>A (p.Pro497His) 387906709 MedGen:C3275459,OMIM:300857 X 56565363 56565363 C A 38906 single nucleotide variant NM_013444.3(UBQLN2):c.1489C>T (p.Pro497Ser) 387906710 MedGen:C3275459,OMIM:300857 X 56591795 56591795 C T 38906 single nucleotide variant NM_013444.3(UBQLN2):c.1489C>T (p.Pro497Ser) 387906710 MedGen:C3275459,OMIM:300857 X 56565362 56565362 C T 38907 single nucleotide variant NM_013444.3(UBQLN2):c.1516C>A (p.Pro506Thr) 387906711 MedGen:C3275459,OMIM:300857 X 56591822 56591822 C A 38907 single nucleotide variant NM_013444.3(UBQLN2):c.1516C>A (p.Pro506Thr) 387906711 MedGen:C3275459,OMIM:300857 X 56565389 56565389 C A 38908 single nucleotide variant NM_013444.3(UBQLN2):c.1525C>T (p.Pro509Ser) 387906712 MedGen:C3275459,OMIM:300857 X 56591831 56591831 C T 38908 single nucleotide variant NM_013444.3(UBQLN2):c.1525C>T (p.Pro509Ser) 387906712 MedGen:C3275459,OMIM:300857 X 56565398 56565398 C T 38909 single nucleotide variant NM_013444.3(UBQLN2):c.1573C>T (p.Pro525Ser) 369947678 MedGen:C3275459,OMIM:300857 X 56591879 56591879 C T 38909 single nucleotide variant NM_013444.3(UBQLN2):c.1573C>T (p.Pro525Ser) 369947678 MedGen:C3275459,OMIM:300857 X 56565446 56565446 C T 167455 single nucleotide variant NM_013444.3(UBQLN2):c.1490C>T (p.Pro497Leu) 387906709 MedGen:C3275459,OMIM:300857 X 56565363 56565363 C T 167455 single nucleotide variant NM_013444.3(UBQLN2):c.1490C>T (p.Pro497Leu) 387906709 MedGen:C3275459,OMIM:300857 X 56591796 56591796 C T 257862 single nucleotide variant NM_013444.3(UBQLN2):c.1461C>A (p.Thr487=) 45559331 MedGen:CN239175;MedGen:CN169374 X 56591767 56591767 C A 257862 single nucleotide variant NM_013444.3(UBQLN2):c.1461C>A (p.Thr487=) 45559331 MedGen:CN239175;MedGen:CN169374 X 56565334 56565334 C A 339510 single nucleotide variant NM_013444.3(UBQLN2):c.-163G>T 192883799 MedGen:CN239175 X 56563711 56563711 G T 339510 single nucleotide variant NM_013444.3(UBQLN2):c.-163G>T 192883799 MedGen:CN239175 X 56590144 56590144 G T 339513 duplication NM_013444.3(UBQLN2):c.-49_-48dupCT 1057515975 MedGen:CN239175 X 56563825 56563826 CT CTCT 339513 duplication NM_013444.3(UBQLN2):c.-49_-48dupCT 1057515975 MedGen:CN239175 X 56590258 56590259 CT CTCT 339516 duplication NM_013444.3(UBQLN2):c.*1170dupC 1057515980 MedGen:CN239175 X 56566918 56566918 C CC 339516 duplication NM_013444.3(UBQLN2):c.*1170dupC 1057515980 MedGen:CN239175 X 56593351 56593351 C CC 349006 single nucleotide variant NM_013444.3(UBQLN2):c.-277A>C 1057515973 MedGen:CN239175 X 56563597 56563597 A C 349006 single nucleotide variant NM_013444.3(UBQLN2):c.-277A>C 1057515973 MedGen:CN239175 X 56590030 56590030 A C 349009 single nucleotide variant NM_013444.3(UBQLN2):c.243A>G (p.Leu81=) 778382794 MedGen:CN239175 X 56564116 56564116 A G 349009 single nucleotide variant NM_013444.3(UBQLN2):c.243A>G (p.Leu81=) 778382794 MedGen:CN239175 X 56590549 56590549 A G 349010 single nucleotide variant NM_013444.3(UBQLN2):c.1383G>A (p.Gly461=) 142250604 MedGen:CN239175 X 56565256 56565256 G A 349010 single nucleotide variant NM_013444.3(UBQLN2):c.1383G>A (p.Gly461=) 142250604 MedGen:CN239175 X 56591689 56591689 G A 352384 single nucleotide variant NM_013444.3(UBQLN2):c.*16T>C 1057515977 MedGen:CN239175 X 56565764 56565764 T C 352384 single nucleotide variant NM_013444.3(UBQLN2):c.*16T>C 1057515977 MedGen:CN239175 X 56592197 56592197 T C 352385 single nucleotide variant NM_013444.3(UBQLN2):c.*1258C>T 41306757 MedGen:CN239175 X 56567006 56567006 C T 352385 single nucleotide variant NM_013444.3(UBQLN2):c.*1258C>T 41306757 MedGen:CN239175 X 56593439 56593439 C T 352933 single nucleotide variant NM_013444.3(UBQLN2):c.-271G>C 1057515974 MedGen:CN239175 X 56563603 56563603 G C 352933 single nucleotide variant NM_013444.3(UBQLN2):c.-271G>C 1057515974 MedGen:CN239175 X 56590036 56590036 G C 352934 single nucleotide variant NM_013444.3(UBQLN2):c.1170C>T (p.Pro390=) 1057515976 MedGen:CN239175 X 56565043 56565043 C T 352934 single nucleotide variant NM_013444.3(UBQLN2):c.1170C>T (p.Pro390=) 1057515976 MedGen:CN239175 X 56591476 56591476 C T 352935 single nucleotide variant NM_013444.3(UBQLN2):c.*41G>T 1057515978 MedGen:CN239175 X 56565789 56565789 G T 352935 single nucleotide variant NM_013444.3(UBQLN2):c.*41G>T 1057515978 MedGen:CN239175 X 56592222 56592222 G T 352936 single nucleotide variant NM_013444.3(UBQLN2):c.*881A>G 1057515979 MedGen:CN239175 X 56566629 56566629 A G 352936 single nucleotide variant NM_013444.3(UBQLN2):c.*881A>G 1057515979 MedGen:CN239175 X 56593062 56593062 A G

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000188021.8 UBQLN2 300264