Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 24819 single nucleotide variant NM_003334.3(UBA1):c.1617G>T (p.Met539Ile) 80356545 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47065388 47065388 G T 24819 single nucleotide variant NM_003334.3(UBA1):c.1617G>T (p.Met539Ile) 80356545 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47205989 47205989 G T 24820 single nucleotide variant NM_003334.3(UBA1):c.1639A>G (p.Ser547Gly) 80356546 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47065410 47065410 A G 24820 single nucleotide variant NM_003334.3(UBA1):c.1639A>G (p.Ser547Gly) 80356546 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47206011 47206011 A G 24821 single nucleotide variant NM_003334.3(UBA1):c.1731C>T (p.Asn577=) 80356547 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47065502 47065502 C T 24821 single nucleotide variant NM_003334.3(UBA1):c.1731C>T (p.Asn577=) 80356547 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47206103 47206103 C T 339239 single nucleotide variant NM_003334.3(UBA1):c.1296C>T (p.Leu432=) 147825775 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47203005 47203005 C T 339239 single nucleotide variant NM_003334.3(UBA1):c.1296C>T (p.Leu432=) 147825775 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47062404 47062404 C T 339251 single nucleotide variant NM_003334.3(UBA1):c.1543C>A (p.Arg515=) 150198324 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47203664 47203664 C A 339251 single nucleotide variant NM_003334.3(UBA1):c.1543C>A (p.Arg515=) 150198324 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47063063 47063063 C A 339252 single nucleotide variant NM_003334.3(UBA1):c.1742-11G>C 5953010 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47206237 47206237 G C 339252 single nucleotide variant NM_003334.3(UBA1):c.1742-11G>C 5953010 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47065636 47065636 G C 339255 single nucleotide variant NM_003334.3(UBA1):c.2838+8C>T 782075261 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47213189 47213189 C T 339255 single nucleotide variant NM_003334.3(UBA1):c.2838+8C>T 782075261 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47072588 47072588 C T 339257 single nucleotide variant NM_003334.3(UBA1):c.2839-7C>T 199797125 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47214320 47214320 C T 339257 single nucleotide variant NM_003334.3(UBA1):c.2839-7C>T 199797125 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47073719 47073719 C T 348762 single nucleotide variant NM_003334.3(UBA1):c.1137C>T (p.Asp379=) 143935711 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47202718 47202718 C T 348762 single nucleotide variant NM_003334.3(UBA1):c.1137C>T (p.Asp379=) 143935711 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47062117 47062117 C T 348763 single nucleotide variant NM_003334.3(UBA1):c.1242C>T (p.Ser414=) 369843264 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47202951 47202951 C T 348763 single nucleotide variant NM_003334.3(UBA1):c.1242C>T (p.Ser414=) 369843264 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47062350 47062350 C T 348766 single nucleotide variant NM_003334.3(UBA1):c.1340G>A (p.Arg447His) 2070169 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47203135 47203135 G A 348766 single nucleotide variant NM_003334.3(UBA1):c.1340G>A (p.Arg447His) 2070169 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47062534 47062534 G A 348768 single nucleotide variant NM_003334.3(UBA1):c.1486G>A (p.Glu496Lys) 140950898 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47203607 47203607 G A 348768 single nucleotide variant NM_003334.3(UBA1):c.1486G>A (p.Glu496Lys) 140950898 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47063006 47063006 G A 348774 single nucleotide variant NM_003334.3(UBA1):c.1702C>G (p.Leu568Val) 150574055 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47206074 47206074 C G 348774 single nucleotide variant NM_003334.3(UBA1):c.1702C>G (p.Leu568Val) 150574055 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47065473 47065473 C G 348775 single nucleotide variant NM_003334.3(UBA1):c.2004-13C>T 201794720 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47209915 47209915 C T 348775 single nucleotide variant NM_003334.3(UBA1):c.2004-13C>T 201794720 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47069314 47069314 C T 348776 single nucleotide variant NM_003334.3(UBA1):c.2220G>A (p.Pro740=) 2230147 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47210862 47210862 G A 348776 single nucleotide variant NM_003334.3(UBA1):c.2220G>A (p.Pro740=) 2230147 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47070261 47070261 G A 348779 single nucleotide variant NM_003334.3(UBA1):c.2308A>C (p.Asn770His) 143044923 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47211069 47211069 A C 348779 single nucleotide variant NM_003334.3(UBA1):c.2308A>C (p.Asn770His) 143044923 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47070468 47070468 A C 348780 deletion NM_003334.3(UBA1):c.2838+7delG 1057515899 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47213188 47213188 G - 348780 deletion NM_003334.3(UBA1):c.2838+7delG 1057515899 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47072587 47072587 G - 352251 single nucleotide variant NM_003334.3(UBA1):c.-178G>A 1057515898 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47193847 47193847 G A 352251 single nucleotide variant NM_003334.3(UBA1):c.-178G>A 1057515898 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47053246 47053246 G A 352252 single nucleotide variant NM_003334.3(UBA1):c.351C>T (p.Tyr117=) 782799228 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47199485 47199485 C T 352252 single nucleotide variant NM_003334.3(UBA1):c.351C>T (p.Tyr117=) 782799228 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47058884 47058884 C T 352253 single nucleotide variant NM_003334.3(UBA1):c.430G>A (p.Val144Ile) 781887272 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47199564 47199564 G A 352253 single nucleotide variant NM_003334.3(UBA1):c.430G>A (p.Val144Ile) 781887272 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47058963 47058963 G A 352254 single nucleotide variant NM_003334.3(UBA1):c.811+9C>G 4239964 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47201619 47201619 C G 352254 single nucleotide variant NM_003334.3(UBA1):c.811+9C>G 4239964 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47061018 47061018 C G 352255 single nucleotide variant NM_003334.3(UBA1):c.2928C>T (p.Leu976=) 782070102 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47214416 47214416 C T 352255 single nucleotide variant NM_003334.3(UBA1):c.2928C>T (p.Leu976=) 782070102 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47073815 47073815 C T 352256 single nucleotide variant NM_003334.3(UBA1):c.*123C>T 1057515900 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47215052 47215052 C T 352256 single nucleotide variant NM_003334.3(UBA1):c.*123C>T 1057515900 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47074451 47074451 C T 352868 single nucleotide variant NM_003334.3(UBA1):c.720C>T (p.His240=) 193168226 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47201519 47201519 C T 352868 single nucleotide variant NM_003334.3(UBA1):c.720C>T (p.His240=) 193168226 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47060918 47060918 C T 352869 single nucleotide variant NM_003334.3(UBA1):c.909+12G>A 367556596 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47202265 47202265 G A 352869 single nucleotide variant NM_003334.3(UBA1):c.909+12G>A 367556596 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47061664 47061664 G A 352870 single nucleotide variant NM_003334.3(UBA1):c.2364C>T (p.Ala788=) 2228658 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47211125 47211125 C T 352870 single nucleotide variant NM_003334.3(UBA1):c.2364C>T (p.Ala788=) 2228658 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47070524 47070524 C T 353866 single nucleotide variant NM_153280.2(UBA1):c.*203C>T 182093778 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47074531 47074531 C T 353866 single nucleotide variant NM_153280.2(UBA1):c.*203C>T 182093778 MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145 X 47215132 47215132 C T

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000130985.16 UBA1 314370