Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 16652 single nucleotide variant NM_014780.4(CUL7):c.4333C>T (p.Arg1445Ter) 121918228 MedGen:C1848862,OMIM:273750 6 43006687 43006687 G A 16652 single nucleotide variant NM_014780.4(CUL7):c.4333C>T (p.Arg1445Ter) 121918228 MedGen:C1848862,OMIM:273750 6 43038949 43038949 G A 16653 single nucleotide variant NM_014780.4(CUL7):c.4391A>C (p.His1464Pro) 121918229 MedGen:C1848862,OMIM:273750 6 43006629 43006629 T G 16653 single nucleotide variant NM_014780.4(CUL7):c.4391A>C (p.His1464Pro) 121918229 MedGen:C1848862,OMIM:273750 6 43038891 43038891 T G 16654 deletion NM_014780.4(CUL7):c.4451_4452delTG (p.Val1484Glyfs) 730880261 MedGen:C1848862,OMIM:273750 6 43006419 43006420 CA - 16654 deletion NM_014780.4(CUL7):c.4451_4452delTG (p.Val1484Glyfs) 730880261 MedGen:C1848862,OMIM:273750 6 43038681 43038682 CA - 16655 duplication NM_014780.4(CUL7):c.4581dupT (p.Arg1528Serfs) 730880301 MedGen:C2678312 6 43006197 43006197 A AA 16655 duplication NM_014780.4(CUL7):c.4581dupT (p.Arg1528Serfs) 730880301 MedGen:C2678312 6 43038459 43038459 A AA 16657 deletion NM_014780.4(CUL7):c.3379_3380delTG (p.Trp1127Glufs) 730880262 MedGen:C1848862,OMIM:273750 6 43010894 43010895 CA - 16657 deletion NM_014780.4(CUL7):c.3379_3380delTG (p.Trp1127Glufs) 730880262 MedGen:C1848862,OMIM:273750 6 43043156 43043157 CA - 16658 single nucleotide variant NM_014780.4(CUL7):c.1570-3C>A 730880263 MedGen:C1848862,OMIM:273750 6 43049665 43049665 G T 16658 single nucleotide variant NM_014780.4(CUL7):c.1570-3C>A 730880263 MedGen:C1848862,OMIM:273750 6 43017403 43017403 G T 132701 single nucleotide variant NM_001168370.1(CUL7):c.2844T>G (p.Tyr948Ter) 201406974 MedGen:C1848862,OMIM:273750;MedGen:CN221809 6 43014042 43014042 A C 132701 single nucleotide variant NM_001168370.1(CUL7):c.2844T>G (p.Tyr948Ter) 201406974 MedGen:C1848862,OMIM:273750;MedGen:CN221809 6 43046304 43046304 A C 189013 single nucleotide variant NM_014780.4(CUL7):c.4529G>T (p.Gly1510Val) 786205581 MedGen:CN221809 6 43006342 43006342 C A 189013 single nucleotide variant NM_014780.4(CUL7):c.4529G>T (p.Gly1510Val) 786205581 MedGen:CN221809 6 43038604 43038604 C A 189014 single nucleotide variant NM_014780.4(CUL7):c.2416G>A (p.Glu806Lys) 200040003 MedGen:CN221809 6 43014321 43014321 C T 189014 single nucleotide variant NM_014780.4(CUL7):c.2416G>A (p.Glu806Lys) 200040003 MedGen:CN221809 6 43046583 43046583 C T 189134 deletion NM_014780.4(CUL7):c.263delT (p.Val88Alafs) 786205651 MedGen:CN221809 6 43020264 43020264 A - 189134 deletion NM_014780.4(CUL7):c.263delT (p.Val88Alafs) 786205651 MedGen:CN221809 6 43052526 43052526 A - 190876 single nucleotide variant NM_014780.4(CUL7):c.2318G>A (p.Arg773Gln) 144619494 MedGen:CN169374 6 43014697 43014697 C T 190876 single nucleotide variant NM_014780.4(CUL7):c.2318G>A (p.Arg773Gln) 144619494 MedGen:CN169374 6 43046959 43046959 C T 191253 single nucleotide variant NM_014780.4(CUL7):c.2563A>G (p.Lys855Glu) 140218677 MedGen:CN073943;MedGen:CN169374 6 43014071 43014071 T C 191253 single nucleotide variant NM_014780.4(CUL7):c.2563A>G (p.Lys855Glu) 140218677 MedGen:CN073943;MedGen:CN169374 6 43046333 43046333 T C 191701 single nucleotide variant NM_014780.4(CUL7):c.2885G>A (p.Arg962Gln) 761386869 MedGen:CN169374 6 43013118 43013118 C T 191701 single nucleotide variant NM_014780.4(CUL7):c.2885G>A (p.Arg962Gln) 761386869 MedGen:CN169374 6 43045380 43045380 C T 191820 single nucleotide variant NM_014780.4(CUL7):c.3041T>G (p.Leu1014Arg) 61752334 MeSH:D030342,MedGen:C0950123;MedGen:C1848862,OMIM:273750 6 43012621 43012621 A C 191820 single nucleotide variant NM_014780.4(CUL7):c.3041T>G (p.Leu1014Arg) 61752334 MeSH:D030342,MedGen:C0950123;MedGen:C1848862,OMIM:273750 6 43044883 43044883 A C 192130 single nucleotide variant NM_014780.4(CUL7):c.3490C>T (p.Arg1164Trp) 201135654 MedGen:CN073943;MedGen:CN169374 6 43010695 43010695 G A 192130 single nucleotide variant NM_014780.4(CUL7):c.3490C>T (p.Arg1164Trp) 201135654 MedGen:CN073943;MedGen:CN169374 6 43042957 43042957 G A 192459 single nucleotide variant NM_014780.4(CUL7):c.79C>T (p.Arg27Cys) 199974831 MedGen:CN169374 6 43020448 43020448 G A 192459 single nucleotide variant NM_014780.4(CUL7):c.79C>T (p.Arg27Cys) 199974831 MedGen:CN169374 6 43052710 43052710 G A 192460 single nucleotide variant NM_014780.4(CUL7):c.465A>T (p.Gly155=) 150212051 MedGen:CN073943;MedGen:CN169374 6 43020062 43020062 T A 192460 single nucleotide variant NM_014780.4(CUL7):c.465A>T (p.Gly155=) 150212051 MedGen:CN073943;MedGen:CN169374 6 43052324 43052324 T A 192461 single nucleotide variant NM_014780.4(CUL7):c.136C>T (p.Arg46Trp) 141692693 MedGen:CN169374 6 43020391 43020391 G A 192461 single nucleotide variant NM_014780.4(CUL7):c.136C>T (p.Arg46Trp) 141692693 MedGen:CN169374 6 43052653 43052653 G A 192462 single nucleotide variant NM_014780.4(CUL7):c.25G>C (p.Glu9Gln) 375192347 MedGen:CN169374 6 43020502 43020502 C G 192462 single nucleotide variant NM_014780.4(CUL7):c.25G>C (p.Glu9Gln) 375192347 MedGen:CN169374 6 43052764 43052764 C G 192463 single nucleotide variant NM_014780.4(CUL7):c.533G>T (p.Arg178Leu) 183865568 MedGen:CN073943;MedGen:CN169374 6 43019994 43019994 C A 192463 single nucleotide variant NM_014780.4(CUL7):c.533G>T (p.Arg178Leu) 183865568 MedGen:CN073943;MedGen:CN169374 6 43052256 43052256 C A 192852 single nucleotide variant NM_014780.4(CUL7):c.4258G>A (p.Gly1420Ser) 369391720 MedGen:CN169374 6 43007930 43007930 C T 192852 single nucleotide variant NM_014780.4(CUL7):c.4258G>A (p.Gly1420Ser) 369391720 MedGen:CN169374 6 43040192 43040192 C T 193054 single nucleotide variant NM_014780.4(CUL7):c.4713C>T (p.Ile1571=) 368539088 MedGen:CN169374 6 43006065 43006065 G A 193054 single nucleotide variant NM_014780.4(CUL7):c.4713C>T (p.Ile1571=) 368539088 MedGen:CN169374 6 43038327 43038327 G A 193055 single nucleotide variant NM_014780.4(CUL7):c.4717C>T (p.Arg1573Ter) 749509661 MeSH:D030342,MedGen:C0950123;MedGen:C1848862,OMIM:273750 6 43006061 43006061 G A 193055 single nucleotide variant NM_014780.4(CUL7):c.4717C>T (p.Arg1573Ter) 749509661 MeSH:D030342,MedGen:C0950123;MedGen:C1848862,OMIM:273750 6 43038323 43038323 G A 193056 single nucleotide variant NM_014780.4(CUL7):c.4762C>A (p.Leu1588Ile) 147493246 MedGen:CN073943;MedGen:CN169374 6 43006016 43006016 G T 193056 single nucleotide variant NM_014780.4(CUL7):c.4762C>A (p.Leu1588Ile) 147493246 MedGen:CN073943;MedGen:CN169374 6 43038278 43038278 G T 194458 deletion NM_014780.4(CUL7):c.898_919del22 (p.Met300Trpfs) 794727644 MedGen:C1848862,OMIM:273750 6 43019020 43019041 GCTCCGAGATCAGGGTGCCCAT - 194458 deletion NM_014780.4(CUL7):c.898_919del22 (p.Met300Trpfs) 794727644 MedGen:C1848862,OMIM:273750 6 43051282 43051303 na na 194459 single nucleotide variant NM_014780.4(CUL7):c.935G>A (p.Arg312His) 201422720 MedGen:CN169374 6 43019004 43019004 C T 194459 single nucleotide variant NM_014780.4(CUL7):c.935G>A (p.Arg312His) 201422720 MedGen:CN169374 6 43051266 43051266 C T 194460 single nucleotide variant NM_014780.4(CUL7):c.1030G>A (p.Ala344Thr) 183119565 MedGen:CN073943;MedGen:CN169374 6 43018909 43018909 C T 194460 single nucleotide variant NM_014780.4(CUL7):c.1030G>A (p.Ala344Thr) 183119565 MedGen:CN073943;MedGen:CN169374 6 43051171 43051171 C T 194461 single nucleotide variant NM_014780.4(CUL7):c.1005G>A (p.Leu335=) 201310376 MedGen:CN169374 6 43018934 43018934 C T 194461 single nucleotide variant NM_014780.4(CUL7):c.1005G>A (p.Leu335=) 201310376 MedGen:CN169374 6 43051196 43051196 C T 195373 single nucleotide variant NM_014780.4(CUL7):c.1542G>T (p.Gln514His) 146808129 MedGen:CN073943;MedGen:CN169374 6 43017728 43017728 C A 195373 single nucleotide variant NM_014780.4(CUL7):c.1542G>T (p.Gln514His) 146808129 MedGen:CN073943;MedGen:CN169374 6 43049990 43049990 C A 215088 single nucleotide variant NM_014780.4(CUL7):c.3173-1G>C 864309521 MedGen:C1848862,OMIM:273750 6 43043631 43043631 C G 215088 single nucleotide variant NM_014780.4(CUL7):c.3173-1G>C 864309521 MedGen:C1848862,OMIM:273750 6 43011369 43011369 C G 252364 single nucleotide variant NM_014780.4(CUL7):c.3993G>A (p.Leu1331=) 2273917 MedGen:CN073943;MedGen:CN169374 6 43008298 43008298 C T 252364 single nucleotide variant NM_014780.4(CUL7):c.3993G>A (p.Leu1331=) 2273917 MedGen:CN073943;MedGen:CN169374 6 43040560 43040560 C T 252365 single nucleotide variant NM_014780.4(CUL7):c.3876C>T (p.Ile1292=) 147056081 MedGen:CN073943;MedGen:CN169374 6 43008415 43008415 G A 252365 single nucleotide variant NM_014780.4(CUL7):c.3876C>T (p.Ile1292=) 147056081 MedGen:CN073943;MedGen:CN169374 6 43040677 43040677 G A 252366 single nucleotide variant NM_014780.4(CUL7):c.3432G>A (p.Thr1144=) 144556973 MedGen:CN073943;MedGen:CN169374 6 43010842 43010842 C T 252366 single nucleotide variant NM_014780.4(CUL7):c.3432G>A (p.Thr1144=) 144556973 MedGen:CN073943;MedGen:CN169374 6 43043104 43043104 C T 252367 single nucleotide variant NM_014780.4(CUL7):c.2439A>G (p.Gln813=) 9394939 MedGen:CN073943;MedGen:CN169374 6 43014298 43014298 T C 252367 single nucleotide variant NM_014780.4(CUL7):c.2439A>G (p.Gln813=) 9394939 MedGen:CN073943;MedGen:CN169374 6 43046560 43046560 T C 252368 indel NM_014780.4(CUL7):c.2438_2439delAAinsGG (p.Gln813Arg) 61748654 MedGen:CN169374 6 43046560 43046561 TT CC 252368 indel NM_014780.4(CUL7):c.2438_2439delAAinsGG (p.Gln813Arg) 61748654 MedGen:CN169374 6 43014298 43014299 TT CC 252369 single nucleotide variant NM_014780.4(CUL7):c.2438A>G (p.Gln813Arg) 9381231 MedGen:CN073943;MedGen:CN169374 6 43014299 43014299 T C 252369 single nucleotide variant NM_014780.4(CUL7):c.2438A>G (p.Gln813Arg) 9381231 MedGen:CN073943;MedGen:CN169374 6 43046561 43046561 T C 252370 single nucleotide variant NM_014780.4(CUL7):c.1590A>C (p.Leu530=) 552325363 MedGen:CN073943;MedGen:CN169374 6 43017380 43017380 T G 252370 single nucleotide variant NM_014780.4(CUL7):c.1590A>C (p.Leu530=) 552325363 MedGen:CN073943;MedGen:CN169374 6 43049642 43049642 T G 252371 single nucleotide variant NM_014780.4(CUL7):c.861G>A (p.Gly287=) 61750322 MedGen:CN073943;MedGen:CN169374 6 43019078 43019078 C T 252371 single nucleotide variant NM_014780.4(CUL7):c.861G>A (p.Gly287=) 61750322 MedGen:CN073943;MedGen:CN169374 6 43051340 43051340 C T 252372 single nucleotide variant NM_014780.4(CUL7):c.339C>T (p.Asp113=) 4711738 MedGen:CN073943;MedGen:CN169374 6 43020188 43020188 G A 252372 single nucleotide variant NM_014780.4(CUL7):c.339C>T (p.Asp113=) 4711738 MedGen:CN073943;MedGen:CN169374 6 43052450 43052450 G A 265585 single nucleotide variant NM_014780.4(CUL7):c.1073G>A (p.Arg358His) 750045772 MedGen:CN169374 6 43018866 43018866 C T 265585 single nucleotide variant NM_014780.4(CUL7):c.1073G>A (p.Arg358His) 750045772 MedGen:CN169374 6 43051128 43051128 C T 265620 insertion NM_014780.4(CUL7):c.2767-13_2767-12insTCTCT 886042144 MedGen:CN169374 6 43013432 43013433 - AGAGA 265620 insertion NM_014780.4(CUL7):c.2767-13_2767-12insTCTCT 886042144 MedGen:CN169374 6 43045694 43045695 - AGAGA 265765 single nucleotide variant NM_014780.4(CUL7):c.4146T>C (p.Tyr1382=) 760451045 MedGen:CN169374 6 43008042 43008042 A G 265765 single nucleotide variant NM_014780.4(CUL7):c.4146T>C (p.Tyr1382=) 760451045 MedGen:CN169374 6 43040304 43040304 A G 265892 single nucleotide variant NM_014780.4(CUL7):c.2688G>A (p.Glu896=) 886042208 MedGen:CN169374 6 43013802 43013802 C T 265892 single nucleotide variant NM_014780.4(CUL7):c.2688G>A (p.Glu896=) 886042208 MedGen:CN169374 6 43046064 43046064 C T 266149 single nucleotide variant NM_014780.4(CUL7):c.3695G>A (p.Arg1232Gln) 36004037 MedGen:CN169374 6 43008764 43008764 C T 266149 single nucleotide variant NM_014780.4(CUL7):c.3695G>A (p.Arg1232Gln) 36004037 MedGen:CN169374 6 43041026 43041026 C T 266328 single nucleotide variant NM_014780.4(CUL7):c.3747G>A (p.Leu1249=) 141211365 MedGen:CN169374 6 43008712 43008712 C T 266328 single nucleotide variant NM_014780.4(CUL7):c.3747G>A (p.Leu1249=) 141211365 MedGen:CN169374 6 43040974 43040974 C T 266453 single nucleotide variant NM_014780.4(CUL7):c.2229C>G (p.Ala743=) 188565648 MedGen:CN169374 6 43014786 43014786 G C 266453 single nucleotide variant NM_014780.4(CUL7):c.2229C>G (p.Ala743=) 188565648 MedGen:CN169374 6 43047048 43047048 G C 266538 single nucleotide variant NM_014780.4(CUL7):c.2164C>T (p.Arg722Ter) 886042376 MedGen:C1848862,OMIM:273750 6 43015891 43015891 G A 266538 single nucleotide variant NM_014780.4(CUL7):c.2164C>T (p.Arg722Ter) 886042376 MedGen:C1848862,OMIM:273750 6 43048153 43048153 G A 266570 single nucleotide variant NM_014780.4(CUL7):c.2614G>A (p.Gly872Ser) 61750320 MedGen:CN169374 6 43014020 43014020 C T 266570 single nucleotide variant NM_014780.4(CUL7):c.2614G>A (p.Gly872Ser) 61750320 MedGen:CN169374 6 43046282 43046282 C T 267180 single nucleotide variant NM_014780.4(CUL7):c.5088C>T (p.Thr1696=) 73733789 MedGen:CN169374 6 43005435 43005435 G A 267180 single nucleotide variant NM_014780.4(CUL7):c.5088C>T (p.Thr1696=) 73733789 MedGen:CN169374 6 43037697 43037697 G A 267362 single nucleotide variant NM_014780.4(CUL7):c.594G>A (p.Gln198=) 886042561 MedGen:CN169374 6 43019488 43019488 C T 267362 single nucleotide variant NM_014780.4(CUL7):c.594G>A (p.Gln198=) 886042561 MedGen:CN169374 6 43051750 43051750 C T 267419 single nucleotide variant NM_014780.4(CUL7):c.3273G>A (p.Ser1091=) 144269675 MedGen:CN169374 6 43011268 43011268 C T 267419 single nucleotide variant NM_014780.4(CUL7):c.3273G>A (p.Ser1091=) 144269675 MedGen:CN169374 6 43043530 43043530 C T 268589 single nucleotide variant NM_014780.4(CUL7):c.4898C>T (p.Thr1633Met) 139249497 MedGen:CN073943;MedGen:CN169374 6 43005625 43005625 G A 268589 single nucleotide variant NM_014780.4(CUL7):c.4898C>T (p.Thr1633Met) 139249497 MedGen:CN073943;MedGen:CN169374 6 43037887 43037887 G A 268844 single nucleotide variant NM_014780.4(CUL7):c.3834C>T (p.Gly1278=) 141756281 MedGen:CN169374 6 43008457 43008457 G A 268844 single nucleotide variant NM_014780.4(CUL7):c.3834C>T (p.Gly1278=) 141756281 MedGen:CN169374 6 43040719 43040719 G A 268845 single nucleotide variant NM_014780.4(CUL7):c.1570-8G>A 372757013 MedGen:CN169374 6 43017408 43017408 C T 268845 single nucleotide variant NM_014780.4(CUL7):c.1570-8G>A 372757013 MedGen:CN169374 6 43049670 43049670 C T 269732 single nucleotide variant NM_014780.4(CUL7):c.2644C>T (p.Arg882Trp) 746022422 MedGen:CN169374 6 43013990 43013990 G A 269732 single nucleotide variant NM_014780.4(CUL7):c.2644C>T (p.Arg882Trp) 746022422 MedGen:CN169374 6 43046252 43046252 G A 270561 single nucleotide variant NM_014780.4(CUL7):c.1047C>T (p.Pro349=) 771240549 MedGen:CN169374 6 43018892 43018892 G A 270561 single nucleotide variant NM_014780.4(CUL7):c.1047C>T (p.Pro349=) 771240549 MedGen:CN169374 6 43051154 43051154 G A 271175 single nucleotide variant NM_014780.4(CUL7):c.981C>T (p.Pro327=) 144880219 MedGen:CN169374 6 43018958 43018958 G A 271175 single nucleotide variant NM_014780.4(CUL7):c.981C>T (p.Pro327=) 144880219 MedGen:CN169374 6 43051220 43051220 G A 271176 single nucleotide variant NM_014780.4(CUL7):c.4482C>T (p.Ser1494=) 760462179 MedGen:CN169374 6 43006389 43006389 G A 271176 single nucleotide variant NM_014780.4(CUL7):c.4482C>T (p.Ser1494=) 760462179 MedGen:CN169374 6 43038651 43038651 G A 271193 single nucleotide variant NM_014780.4(CUL7):c.5080T>G (p.Phe1694Val) 150979209 MedGen:CN169374 6 43005443 43005443 A C 271193 single nucleotide variant NM_014780.4(CUL7):c.5080T>G (p.Phe1694Val) 150979209 MedGen:CN169374 6 43037705 43037705 A C 271377 single nucleotide variant NM_014780.4(CUL7):c.2472C>T (p.Leu824=) 886043579 MedGen:CN169374 6 43014265 43014265 G A 271377 single nucleotide variant NM_014780.4(CUL7):c.2472C>T (p.Leu824=) 886043579 MedGen:CN169374 6 43046527 43046527 G A 271507 single nucleotide variant NM_014780.4(CUL7):c.4068A>G (p.Glu1356=) 886043610 MedGen:CN169374 6 43008120 43008120 T C 271507 single nucleotide variant NM_014780.4(CUL7):c.4068A>G (p.Glu1356=) 886043610 MedGen:CN169374 6 43040382 43040382 T C 272110 single nucleotide variant NM_014780.4(CUL7):c.2885G>T (p.Arg962Leu) 761386869 MedGen:CN169374 6 43013118 43013118 C A 272110 single nucleotide variant NM_014780.4(CUL7):c.2885G>T (p.Arg962Leu) 761386869 MedGen:CN169374 6 43045380 43045380 C A 272570 single nucleotide variant NM_014780.4(CUL7):c.3861C>T (p.Ala1287=) 745678508 MedGen:CN169374 6 43008430 43008430 G A 272570 single nucleotide variant NM_014780.4(CUL7):c.3861C>T (p.Ala1287=) 745678508 MedGen:CN169374 6 43040692 43040692 G A 272594 deletion NM_014780.4(CUL7):c.2787delC (p.Ser930Alafs) 886043872 MedGen:C1848862,OMIM:273750 6 43013400 43013400 G - 272594 deletion NM_014780.4(CUL7):c.2787delC (p.Ser930Alafs) 886043872 MedGen:C1848862,OMIM:273750 6 43045662 43045662 G - 272596 single nucleotide variant NM_014780.4(CUL7):c.4318C>T (p.Arg1440Ter) 748555538 MedGen:C1848862,OMIM:273750 6 43006702 43006702 G A 272596 single nucleotide variant NM_014780.4(CUL7):c.4318C>T (p.Arg1440Ter) 748555538 MedGen:C1848862,OMIM:273750 6 43038964 43038964 G A 273625 single nucleotide variant NM_014780.4(CUL7):c.2586G>T (p.Lys862Asn) 749595977 MedGen:CN169374 6 43014048 43014048 C A 273625 single nucleotide variant NM_014780.4(CUL7):c.2586G>T (p.Lys862Asn) 749595977 MedGen:CN169374 6 43046310 43046310 C A 274479 single nucleotide variant NM_014780.4(CUL7):c.2848A>T (p.Lys950Ter) 886044397 MedGen:C1848862,OMIM:273750 6 43013339 43013339 T A 274479 single nucleotide variant NM_014780.4(CUL7):c.2848A>T (p.Lys950Ter) 886044397 MedGen:C1848862,OMIM:273750 6 43045601 43045601 T A 274980 single nucleotide variant NM_014780.4(CUL7):c.4659G>A (p.Glu1553=) 139243761 MedGen:CN169374 6 43006119 43006119 C T 274980 single nucleotide variant NM_014780.4(CUL7):c.4659G>A (p.Glu1553=) 139243761 MedGen:CN169374 6 43038381 43038381 C T 274981 single nucleotide variant NM_014780.4(CUL7):c.2645G>A (p.Arg882Gln) 45574335 MedGen:CN169374 6 43013989 43013989 C T 274981 single nucleotide variant NM_014780.4(CUL7):c.2645G>A (p.Arg882Gln) 45574335 MedGen:CN169374 6 43046251 43046251 C T 275018 single nucleotide variant NM_014780.4(CUL7):c.785C>T (p.Ser262Leu) 764858516 MedGen:CN169374 6 43019154 43019154 G A 275018 single nucleotide variant NM_014780.4(CUL7):c.785C>T (p.Ser262Leu) 764858516 MedGen:CN169374 6 43051416 43051416 G A 300205 single nucleotide variant NM_014780.4(CUL7):c.5041C>T (p.Arg1681Trp) 375165020 MedGen:CN073943 6 43037744 43037744 G A 300205 single nucleotide variant NM_014780.4(CUL7):c.5041C>T (p.Arg1681Trp) 375165020 MedGen:CN073943 6 43005482 43005482 G A 300211 single nucleotide variant NM_014780.4(CUL7):c.4935C>T (p.Ser1645=) 116910528 MedGen:CN073943 6 43037850 43037850 G A 300211 single nucleotide variant NM_014780.4(CUL7):c.4935C>T (p.Ser1645=) 116910528 MedGen:CN073943 6 43005588 43005588 G A 300218 single nucleotide variant NM_014780.4(CUL7):c.4876C>G (p.Leu1626Val) 750060978 MedGen:CN073943 6 43037909 43037909 G C 300218 single nucleotide variant NM_014780.4(CUL7):c.4876C>G (p.Leu1626Val) 750060978 MedGen:CN073943 6 43005647 43005647 G C 300220 single nucleotide variant NM_014780.4(CUL7):c.4463T>C (p.Leu1488Pro) 41274912 MedGen:CN073943 6 43038670 43038670 A G 300220 single nucleotide variant NM_014780.4(CUL7):c.4463T>C (p.Leu1488Pro) 41274912 MedGen:CN073943 6 43006408 43006408 A G 300221 single nucleotide variant NM_014780.4(CUL7):c.4131T>C (p.Asn1377=) 767470504 MedGen:CN073943 6 43040319 43040319 A G 300221 single nucleotide variant NM_014780.4(CUL7):c.4131T>C (p.Asn1377=) 767470504 MedGen:CN073943 6 43008057 43008057 A G 300223 single nucleotide variant NM_014780.4(CUL7):c.3332C>T (p.Pro1111Leu) 760768495 MedGen:CN073943 6 43043471 43043471 G A 300223 single nucleotide variant NM_014780.4(CUL7):c.3332C>T (p.Pro1111Leu) 760768495 MedGen:CN073943 6 43011209 43011209 G A 300227 single nucleotide variant NM_014780.4(CUL7):c.2169+5C>T 886061418 MedGen:CN073943 6 43048143 43048143 G A 300227 single nucleotide variant NM_014780.4(CUL7):c.2169+5C>T 886061418 MedGen:CN073943 6 43015881 43015881 G A 300229 single nucleotide variant NM_014780.4(CUL7):c.2146C>T (p.Arg716Trp) 753407734 MedGen:CN073943 6 43048171 43048171 G A 300229 single nucleotide variant NM_014780.4(CUL7):c.2146C>T (p.Arg716Trp) 753407734 MedGen:CN073943 6 43015909 43015909 G A 300232 single nucleotide variant NM_014780.4(CUL7):c.1202G>A (p.Arg401Gln) 73733791 MedGen:CN073943 6 43050999 43050999 C T 300232 single nucleotide variant NM_014780.4(CUL7):c.1202G>A (p.Arg401Gln) 73733791 MedGen:CN073943 6 43018737 43018737 C T 300233 single nucleotide variant NM_014780.4(CUL7):c.587G>A (p.Arg196Gln) 761377936 MedGen:CN073943 6 43019495 43019495 C T 300233 single nucleotide variant NM_014780.4(CUL7):c.587G>A (p.Arg196Gln) 761377936 MedGen:CN073943 6 43051757 43051757 C T 300237 single nucleotide variant NM_014780.4(CUL7):c.384T>C (p.Cys128=) 886061421 MedGen:CN073943 6 43020143 43020143 A G 300237 single nucleotide variant NM_014780.4(CUL7):c.384T>C (p.Cys128=) 886061421 MedGen:CN073943 6 43052405 43052405 A G 302974 single nucleotide variant NM_014780.4(CUL7):c.5072C>T (p.Thr1691Ile) 140092102 MedGen:CN073943 6 43037713 43037713 G A 302974 single nucleotide variant NM_014780.4(CUL7):c.5072C>T (p.Thr1691Ile) 140092102 MedGen:CN073943 6 43005451 43005451 G A 302976 single nucleotide variant NM_014780.4(CUL7):c.3416T>C (p.Ile1139Thr) 77965460 MedGen:CN073943 6 43043120 43043120 A G 302976 single nucleotide variant NM_014780.4(CUL7):c.3416T>C (p.Ile1139Thr) 77965460 MedGen:CN073943 6 43010858 43010858 A G 302987 single nucleotide variant NM_014780.4(CUL7):c.1215C>T (p.Asn405=) 755095253 MedGen:CN073943 6 43018724 43018724 G A 302979 single nucleotide variant NM_014780.4(CUL7):c.2555G>A (p.Arg852Gln) 34574340 MedGen:CN073943 6 43046341 43046341 C T 302979 single nucleotide variant NM_014780.4(CUL7):c.2555G>A (p.Arg852Gln) 34574340 MedGen:CN073943 6 43014079 43014079 C T 302981 single nucleotide variant NM_014780.4(CUL7):c.2287C>A (p.Leu763Met) 776878896 MedGen:CN073943 6 43046990 43046990 G T 302981 single nucleotide variant NM_014780.4(CUL7):c.2287C>A (p.Leu763Met) 776878896 MedGen:CN073943 6 43014728 43014728 G T 302984 single nucleotide variant NM_014780.4(CUL7):c.2115C>T (p.His705=) 143128153 MedGen:CN073943 6 43048202 43048202 G A 302984 single nucleotide variant NM_014780.4(CUL7):c.2115C>T (p.His705=) 143128153 MedGen:CN073943 6 43015940 43015940 G A 302986 single nucleotide variant NM_014780.4(CUL7):c.1265G>T (p.Trp422Leu) 886061420 MedGen:CN073943 6 43050367 43050367 C A 302986 single nucleotide variant NM_014780.4(CUL7):c.1265G>T (p.Trp422Leu) 886061420 MedGen:CN073943 6 43018105 43018105 C A 302987 single nucleotide variant NM_014780.4(CUL7):c.1215C>T (p.Asn405=) 755095253 MedGen:CN073943 6 43050986 43050986 G A 302993 single nucleotide variant NM_014780.4(CUL7):c.-300G>C 80311039 MedGen:CN073943 6 43053913 43053913 C G 302993 single nucleotide variant NM_014780.4(CUL7):c.-300G>C 80311039 MedGen:CN073943 6 43021651 43021651 C G 307411 single nucleotide variant NM_014780.4(CUL7):c.*71A>G 547477552 MedGen:CN073943 6 43005355 43005355 T C 307411 single nucleotide variant NM_014780.4(CUL7):c.*71A>G 547477552 MedGen:CN073943 6 43037617 43037617 T C 307414 single nucleotide variant NM_014780.4(CUL7):c.4794G>A (p.Lys1598=) 61437700 MedGen:CN073943 6 43037991 43037991 C T 307414 single nucleotide variant NM_014780.4(CUL7):c.4794G>A (p.Lys1598=) 61437700 MedGen:CN073943 6 43005729 43005729 C T 307416 single nucleotide variant NM_014780.4(CUL7):c.4690C>T (p.Arg1564Trp) 761970375 MedGen:CN073943 6 43038350 43038350 G A 307416 single nucleotide variant NM_014780.4(CUL7):c.4690C>T (p.Arg1564Trp) 761970375 MedGen:CN073943 6 43006088 43006088 G A 307419 single nucleotide variant NM_014780.4(CUL7):c.4683G>A (p.Glu1561=) 886061415 MedGen:CN073943 6 43038357 43038357 C T 307419 single nucleotide variant NM_014780.4(CUL7):c.4683G>A (p.Glu1561=) 886061415 MedGen:CN073943 6 43006095 43006095 C T 307420 single nucleotide variant NM_014780.4(CUL7):c.4625G>A (p.Arg1542Gln) 189054608 MedGen:CN073943 6 43038415 43038415 C T 307420 single nucleotide variant NM_014780.4(CUL7):c.4625G>A (p.Arg1542Gln) 189054608 MedGen:CN073943 6 43006153 43006153 C T 307421 single nucleotide variant NM_014780.4(CUL7):c.4443G>A (p.Ala1481=) 572367422 MedGen:CN073943 6 43038690 43038690 C T 307421 single nucleotide variant NM_014780.4(CUL7):c.4443G>A (p.Ala1481=) 572367422 MedGen:CN073943 6 43006428 43006428 C T 307432 single nucleotide variant NM_014780.4(CUL7):c.2767-14C>T 754969453 MedGen:CN073943 6 43045696 43045696 G A 307432 single nucleotide variant NM_014780.4(CUL7):c.2767-14C>T 754969453 MedGen:CN073943 6 43013434 43013434 G A 307435 single nucleotide variant NM_014780.4(CUL7):c.2693C>G (p.Ser898Trp) 141829168 MedGen:CN073943 6 43046059 43046059 G C 307435 single nucleotide variant NM_014780.4(CUL7):c.2693C>G (p.Ser898Trp) 141829168 MedGen:CN073943 6 43013797 43013797 G C 307438 single nucleotide variant NM_014780.4(CUL7):c.2603A>G (p.Asn868Ser) 149360738 MedGen:CN073943 6 43046293 43046293 T C 307438 single nucleotide variant NM_014780.4(CUL7):c.2603A>G (p.Asn868Ser) 149360738 MedGen:CN073943 6 43014031 43014031 T C 307441 single nucleotide variant NM_014780.4(CUL7):c.1780G>A (p.Ala594Thr) 141065679 MedGen:CN073943 6 43049452 43049452 C T 307441 single nucleotide variant NM_014780.4(CUL7):c.1780G>A (p.Ala594Thr) 141065679 MedGen:CN073943 6 43017190 43017190 C T 307443 single nucleotide variant NM_014780.4(CUL7):c.1716C>G (p.Ala572=) 150213603 MedGen:CN073943 6 43049516 43049516 G C 307443 single nucleotide variant NM_014780.4(CUL7):c.1716C>G (p.Ala572=) 150213603 MedGen:CN073943 6 43017254 43017254 G C 307444 single nucleotide variant NM_014780.4(CUL7):c.1513G>A (p.Asp505Asn) 886061419 MedGen:CN073943 6 43050019 43050019 C T 307444 single nucleotide variant NM_014780.4(CUL7):c.1513G>A (p.Asp505Asn) 886061419 MedGen:CN073943 6 43017757 43017757 C T 307445 single nucleotide variant NM_014780.4(CUL7):c.1027C>T (p.Pro343Ser) 113845886 MedGen:CN073943 6 43051174 43051174 G A 307445 single nucleotide variant NM_014780.4(CUL7):c.1027C>T (p.Pro343Ser) 113845886 MedGen:CN073943 6 43018912 43018912 G A 307449 single nucleotide variant NM_014780.4(CUL7):c.733-12T>G 755447863 MedGen:CN073943 6 43019218 43019218 A C 307449 single nucleotide variant NM_014780.4(CUL7):c.733-12T>G 755447863 MedGen:CN073943 6 43051480 43051480 A C 307451 single nucleotide variant NM_014780.4(CUL7):c.249C>T (p.Gly83=) 764168236 MedGen:CN073943 6 43020278 43020278 G A 307451 single nucleotide variant NM_014780.4(CUL7):c.249C>T (p.Gly83=) 764168236 MedGen:CN073943 6 43052540 43052540 G A 307617 single nucleotide variant NM_014780.4(CUL7):c.*57A>G 565386041 MedGen:CN073943 6 43005369 43005369 T C 307617 single nucleotide variant NM_014780.4(CUL7):c.*57A>G 565386041 MedGen:CN073943 6 43037631 43037631 T C 307618 single nucleotide variant NM_014780.4(CUL7):c.4346C>T (p.Thr1449Met) 144111004 MedGen:CN073943 6 43038936 43038936 G A 307618 single nucleotide variant NM_014780.4(CUL7):c.4346C>T (p.Thr1449Met) 144111004 MedGen:CN073943 6 43006674 43006674 G A 307620 single nucleotide variant NM_014780.4(CUL7):c.4323C>T (p.Gly1441=) 148472550 MedGen:CN073943 6 43038959 43038959 G A 307620 single nucleotide variant NM_014780.4(CUL7):c.4323C>T (p.Gly1441=) 148472550 MedGen:CN073943 6 43006697 43006697 G A 307623 single nucleotide variant NM_014780.4(CUL7):c.4295-14C>A 144154816 MedGen:CN073943 6 43039001 43039001 G T 307623 single nucleotide variant NM_014780.4(CUL7):c.4295-14C>A 144154816 MedGen:CN073943 6 43006739 43006739 G T 307624 single nucleotide variant NM_014780.4(CUL7):c.3463-10T>C 527664718 MedGen:CN073943 6 43042994 43042994 A G 307624 single nucleotide variant NM_014780.4(CUL7):c.3463-10T>C 527664718 MedGen:CN073943 6 43010732 43010732 A G 307625 single nucleotide variant NM_014780.4(CUL7):c.3096C>T (p.Asp1032=) 138276478 MedGen:CN073943 6 43044828 43044828 G A 307625 single nucleotide variant NM_014780.4(CUL7):c.3096C>T (p.Asp1032=) 138276478 MedGen:CN073943 6 43012566 43012566 G A 307631 single nucleotide variant NM_014780.4(CUL7):c.3027C>T (p.His1009=) 886061416 MedGen:CN073943 6 43045238 43045238 G A 307631 single nucleotide variant NM_014780.4(CUL7):c.3027C>T (p.His1009=) 886061416 MedGen:CN073943 6 43012976 43012976 G A 307632 single nucleotide variant NM_014780.4(CUL7):c.2803C>T (p.Leu935=) 146309619 MedGen:CN073943 6 43045646 43045646 G A 307632 single nucleotide variant NM_014780.4(CUL7):c.2803C>T (p.Leu935=) 146309619 MedGen:CN073943 6 43013384 43013384 G A 307641 single nucleotide variant NM_014780.4(CUL7):c.2789G>A (p.Ser930Asn) 61750321 MedGen:CN073943 6 43045660 43045660 C T 307641 single nucleotide variant NM_014780.4(CUL7):c.2789G>A (p.Ser930Asn) 61750321 MedGen:CN073943 6 43013398 43013398 C T 307642 single nucleotide variant NM_014780.4(CUL7):c.2720T>C (p.Val907Ala) 886061417 MedGen:CN073943 6 43046032 43046032 A G 307642 single nucleotide variant NM_014780.4(CUL7):c.2720T>C (p.Val907Ala) 886061417 MedGen:CN073943 6 43013770 43013770 A G 307647 single nucleotide variant NM_014780.4(CUL7):c.1846A>G (p.Ser616Gly) 7774330 MedGen:CN073943 6 43048549 43048549 T C 307647 single nucleotide variant NM_014780.4(CUL7):c.1846A>G (p.Ser616Gly) 7774330 MedGen:CN073943 6 43016287 43016287 T C 307649 single nucleotide variant NM_014780.4(CUL7):c.1664C>T (p.Ala555Val) 747565596 MedGen:CN073943 6 43049568 43049568 G A 307649 single nucleotide variant NM_014780.4(CUL7):c.1664C>T (p.Ala555Val) 747565596 MedGen:CN073943 6 43017306 43017306 G A 307658 single nucleotide variant NM_014780.4(CUL7):c.841G>A (p.Ala281Thr) 374438135 MedGen:CN073943 6 43051360 43051360 C T 307658 single nucleotide variant NM_014780.4(CUL7):c.841G>A (p.Ala281Thr) 374438135 MedGen:CN073943 6 43019098 43019098 C T 307659 single nucleotide variant NM_014780.4(CUL7):c.161G>T (p.Gly54Val) 886061422 MedGen:CN073943 6 43020366 43020366 C A 307659 single nucleotide variant NM_014780.4(CUL7):c.161G>T (p.Gly54Val) 886061422 MedGen:CN073943 6 43052628 43052628 C A 307662 single nucleotide variant NM_014780.4(CUL7):c.88G>A (p.Val30Met) 752077507 MedGen:CN073943 6 43052701 43052701 C T 307662 single nucleotide variant NM_014780.4(CUL7):c.88G>A (p.Val30Met) 752077507 MedGen:CN073943 6 43020439 43020439 C T 307667 single nucleotide variant NM_014780.4(CUL7):c.-168C>T 3737186 MedGen:CN073943 6 43053781 43053781 G A 307667 single nucleotide variant NM_014780.4(CUL7):c.-168C>T 3737186 MedGen:CN073943 6 43021519 43021519 G A 307669 single nucleotide variant NM_014780.4(CUL7):c.-236G>A 886061423 MedGen:CN073943 6 43053849 43053849 C T 307669 single nucleotide variant NM_014780.4(CUL7):c.-236G>A 886061423 MedGen:CN073943 6 43021587 43021587 C T 307671 single nucleotide variant NM_014780.4(CUL7):c.-269A>G 377101095 MedGen:CN073943 6 43053882 43053882 T C 307671 single nucleotide variant NM_014780.4(CUL7):c.-269A>G 377101095 MedGen:CN073943 6 43021620 43021620 T C 307672 single nucleotide variant NM_014780.4(CUL7):c.-272C>T 754072990 MedGen:CN073943 6 43053885 43053885 G A 307672 single nucleotide variant NM_014780.4(CUL7):c.-272C>T 754072990 MedGen:CN073943 6 43021623 43021623 G A 307674 single nucleotide variant NM_014780.4(CUL7):c.-298C>G 369727378 MedGen:CN073943 6 43053911 43053911 G C 307674 single nucleotide variant NM_014780.4(CUL7):c.-298C>G 369727378 MedGen:CN073943 6 43021649 43021649 G C

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000044090.8 CUL7 609577