| 598191662 | CV3925789 | single nucleotide variant | NM_001347684.2(UPK3B):c.*5G>T | not specified [RCV005288394] | uncertain significance | 7 | 76515209 | 76515209 | Human | | name |
| 405810361 | CV3345248 | single nucleotide variant | NM_001347684.2(UPK3B):c.*36C>T | not specified [RCV004482208] | uncertain significance | 7 | 76515240 | 76515240 | Human | | name |
| 405810363 | CV3345249 | single nucleotide variant | NM_001347684.2(UPK3B):c.*37G>A | not specified [RCV004482209] | uncertain significance | 7 | 76515241 | 76515241 | Human | | name |
| 598274782 | CV3925787 | single nucleotide variant | NM_001347684.2(UPK3B):c.85+9G>A | not specified [RCV005304115] | uncertain significance | 7 | 76510746 | 76510746 | Human | | name |
| 155915048 | CV2264856 | single nucleotide variant | NM_001347684.2(UPK3B):c.85+13C>A | not specified [RCV004134611] | uncertain significance | 7 | 76510750 | 76510750 | Human | | name |
| 156000888 | CV2284413 | single nucleotide variant | NM_001347684.2(UPK3B):c.86-82G>A | not specified [RCV004147031] | likely benign | 7 | 76510821 | 76510821 | Human | | name |
| 156287678 | CV2327340 | single nucleotide variant | NM_001347684.2(UPK3B):c.85+24G>T | not specified [RCV004174777] | uncertain significance | 7 | 76510761 | 76510761 | Human | | name |
| 156386036 | CV2364637 | single nucleotide variant | NM_001347684.2(UPK3B):c.85+75T>C | not specified [RCV004219528] | uncertain significance | 7 | 76510812 | 76510812 | Human | | name |
| 401872299 | CV2754335 | single nucleotide variant | NM_001347684.2(UPK3B):c.86-15C>A | not specified [RCV004334511] | uncertain significance | 7 | 76510888 | 76510888 | Human | | name |
| 407451938 | CV3489438 | single nucleotide variant | NM_001347684.2(UPK3B):c.85+18A>C | not specified [RCV004685277] | uncertain significance | 7 | 76510755 | 76510755 | Human | | name |
| 407451943 | CV3489440 | single nucleotide variant | NM_001347684.2(UPK3B):c.85+13C>G | not specified [RCV004685279] | uncertain significance | 7 | 76510750 | 76510750 | Human | | name |
| 597689152 | CV3629204 | single nucleotide variant | NM_001347684.2(UPK3B):c.86-10G>A | not specified [RCV004876502] | likely benign | 7 | 76510893 | 76510893 | Human | | name |
| 597689171 | CV3629207 | single nucleotide variant | NM_001347684.2(UPK3B):c.85+28C>G | not specified [RCV004876504] | uncertain significance | 7 | 76510765 | 76510765 | Human | | name |
| 597689193 | CV3629210 | single nucleotide variant | NM_001347684.2(UPK3B):c.85+25C>T | not specified [RCV004876506] | uncertain significance | 7 | 76510762 | 76510762 | Human | | name |
| 597689212 | CV3629214 | single nucleotide variant | NM_001347684.2(UPK3B):c.85+21G>C | not specified [RCV004876508] | uncertain significance | 7 | 76510758 | 76510758 | Human | | name |
| 598191651 | CV3925785 | single nucleotide variant | NM_001347684.2(UPK3B):c.86-48C>T | not specified [RCV005288392] | uncertain significance | 7 | 76510855 | 76510855 | Human | | name |
| 156373969 | CV2198123 | single nucleotide variant | NM_001347684.2(UPK3B):c.660T>C (p.Ser220=) | not provided [RCV003434599]|not specified [RCV004079716] | likely benign | 7 | 76514065 | 76514065 | Human | | name |
| 156375522 | CV2210209 | single nucleotide variant | NM_001347684.2(UPK3B):c.720C>T (p.Gly240=) | not specified [RCV004087590] | uncertain significance | 7 | 76515093 | 76515093 | Human | | name |
| 155982188 | CV2337135 | single nucleotide variant | NM_001347684.2(UPK3B):c.552C>T (p.Pro184=) | not specified [RCV004192895] | uncertain significance | 7 | 76513957 | 76513957 | Human | | name |
| 401892779 | CV2791783 | single nucleotide variant | NM_001347684.2(UPK3B):c.774C>G (p.Ala258=) | not specified [RCV004353101] | uncertain significance | 7 | 76515147 | 76515147 | Human | | name |
| 405810347 | CV3345241 | single nucleotide variant | NM_001347684.2(UPK3B):c.627C>T (p.Ala209=) | not specified [RCV004482201] | uncertain significance | 7 | 76514032 | 76514032 | Human | | name |
| 405810351 | CV3345243 | single nucleotide variant | NM_001347684.2(UPK3B):c.669C>T (p.Arg223=) | not specified [RCV004482203] | uncertain significance | 7 | 76514074 | 76514074 | Human | | name |
| 405810355 | CV3345245 | single nucleotide variant | NM_001347684.2(UPK3B):c.702G>A (p.Pro234=) | not specified [RCV004482205] | likely benign | 7 | 76515075 | 76515075 | Human | | name |
| 597689142 | CV3629203 | single nucleotide variant | NM_001347684.2(UPK3B):c.690G>A (p.Pro230=) | not specified [RCV004876501] | uncertain significance | 7 | 76515063 | 76515063 | Human | | name |
| 597690789 | CV3629211 | single nucleotide variant | NM_001347684.2(UPK3B):c.654A>C (p.Ala218=) | not specified [RCV004887936] | uncertain significance | 7 | 76514059 | 76514059 | Human | | name |
| 156251113 | CV2232268 | single nucleotide variant | NM_001347684.2(UPK3B):c.242G>A (p.Arg81Lys) | not specified [RCV004105051] | uncertain significance | 7 | 76511663 | 76511663 | Human | | name |
| 156131065 | CV2372745 | single nucleotide variant | NM_001347684.2(UPK3B):c.101C>T (p.Thr34Ile) | not specified [RCV004221933] | uncertain significance | 7 | 76510918 | 76510918 | Human | | name |
| 401748986 | CV2694546 | single nucleotide variant | NM_001347684.2(UPK3B):c.113C>T (p.Thr38Ile) | not specified [RCV004298676] | uncertain significance | 7 | 76510930 | 76510930 | Human | | name |
| 405810332 | CV3345234 | single nucleotide variant | NM_001347684.2(UPK3B):c.217G>A (p.Val73Met) | not specified [RCV004482194] | uncertain significance | 7 | 76511034 | 76511034 | Human | | name |
| 597689221 | CV3629215 | single nucleotide variant | NM_001347684.2(UPK3B):c.158T>C (p.Leu53Pro) | not specified [RCV004876509] | uncertain significance | 7 | 76510975 | 76510975 | Human | | name |
| 598191668 | CV3925790 | single nucleotide variant | NM_001347684.2(UPK3B):c.169C>T (p.Arg57Cys) | not specified [RCV005288395] | uncertain significance | 7 | 76510986 | 76510986 | Human | | name |
| 156230056 | CV2267829 | single nucleotide variant | NM_001347684.2(UPK3B):c.323C>T (p.Pro108Leu) | not specified [RCV004136135] | uncertain significance | 7 | 76511744 | 76511744 | Human | | name |
| 156305223 | CV2305053 | single nucleotide variant | NM_001347684.2(UPK3B):c.434C>T (p.Ala145Val) | not specified [RCV004168937] | uncertain significance | 7 | 76511855 | 76511855 | Human | | name |
| 156343718 | CV2349230 | single nucleotide variant | NM_001347684.2(UPK3B):c.458A>G (p.Tyr153Cys) | not specified [RCV004199183] | uncertain significance | 7 | 76511879 | 76511879 | Human | | name |
| 156003392 | CV2357451 | single nucleotide variant | NM_001347684.2(UPK3B):c.712C>T (p.Arg238Trp) | not specified [RCV004202743] | uncertain significance | 7 | 76515085 | 76515085 | Human | | name |
| 155967389 | CV2391336 | single nucleotide variant | NM_001347684.2(UPK3B):c.724T>A (p.Phe242Ile) | not provided [RCV004696290]|not specified [RCV004239744] | uncertain significance | 7 | 76515097 | 76515097 | Human | | name |
| 329392238 | CV2441339 | single nucleotide variant | NM_001347684.2(UPK3B):c.382G>A (p.Val128Met) | not specified [RCV004257150] | uncertain significance | 7 | 76511803 | 76511803 | Human | | name |
| 401738156 | CV2676149 | single nucleotide variant | NM_001347684.2(UPK3B):c.815C>T (p.Pro272Leu) | not specified [RCV004284370] | likely benign | 7 | 76515188 | 76515188 | Human | | name |
| 405810335 | CV3345235 | single nucleotide variant | NM_001347684.2(UPK3B):c.313A>G (p.Met105Val) | not specified [RCV004482195] | uncertain significance | 7 | 76511734 | 76511734 | Human | | name |
| 405810337 | CV3345236 | single nucleotide variant | NM_001347684.2(UPK3B):c.376G>A (p.Ala126Thr) | not specified [RCV004482196] | uncertain significance | 7 | 76511797 | 76511797 | Human | | name |
| 405810339 | CV3345237 | single nucleotide variant | NM_001347684.2(UPK3B):c.566C>T (p.Thr189Ile) | not specified [RCV004482197] | likely benign | 7 | 76513971 | 76513971 | Human | | name |
| 405810343 | CV3345239 | single nucleotide variant | NM_001347684.2(UPK3B):c.572C>T (p.Pro191Leu) | not specified [RCV004482199] | likely benign | 7 | 76513977 | 76513977 | Human | | name |
| 405810345 | CV3345240 | single nucleotide variant | NM_001347684.2(UPK3B):c.598G>A (p.Val200Ile) | not specified [RCV004482200] | likely benign | 7 | 76514003 | 76514003 | Human | | name |
| 405810349 | CV3345242 | single nucleotide variant | NM_001347684.2(UPK3B):c.667C>T (p.Arg223Cys) | not specified [RCV004482202] | uncertain significance | 7 | 76514072 | 76514072 | Human | | name |
| 405810353 | CV3345244 | single nucleotide variant | NM_001347684.2(UPK3B):c.701C>T (p.Pro234Leu) | not specified [RCV004482204] | likely benign | 7 | 76515074 | 76515074 | Human | | name |
| 405810359 | CV3345247 | single nucleotide variant | NM_001347684.2(UPK3B):c.737G>A (p.Arg246His) | not specified [RCV004482207] | likely benign | 7 | 76515110 | 76515110 | Human | | name |
| 407451935 | CV3489437 | single nucleotide variant | NM_001347684.2(UPK3B):c.713G>A (p.Arg238Gln) | not specified [RCV004685276] | likely benign | 7 | 76515086 | 76515086 | Human | | name |
| 407451940 | CV3489439 | single nucleotide variant | NM_001347684.2(UPK3B):c.689C>T (p.Pro230Leu) | not specified [RCV004685278] | likely benign | 7 | 76515062 | 76515062 | Human | | name |
| 597689160 | CV3629205 | single nucleotide variant | NM_001347684.2(UPK3B):c.352G>A (p.Asp118Asn) | not specified [RCV004876503] | uncertain significance | 7 | 76511773 | 76511773 | Human | | name |
| 597691328 | CV3629206 | single nucleotide variant | NM_001347684.2(UPK3B):c.814C>T (p.Pro272Ser) | not specified [RCV004887934] | uncertain significance | 7 | 76515187 | 76515187 | Human | | name |
| 597690776 | CV3629208 | single nucleotide variant | NM_001347684.2(UPK3B):c.388C>T (p.Arg130Trp) | not specified [RCV004887935] | uncertain significance | 7 | 76511809 | 76511809 | Human | | name |
| 597689179 | CV3629209 | single nucleotide variant | NM_001347684.2(UPK3B):c.665T>C (p.Met222Thr) | not specified [RCV004876505] | likely benign | 7 | 76514070 | 76514070 | Human | | name |
| 597689202 | CV3629213 | single nucleotide variant | NM_001347684.2(UPK3B):c.772G>A (p.Ala258Thr) | not specified [RCV004876507] | uncertain significance | 7 | 76515145 | 76515145 | Human | | name |
| 598274780 | CV3925786 | single nucleotide variant | NM_001347684.2(UPK3B):c.824G>T (p.Ser275Ile) | not specified [RCV005304114] | uncertain significance | 7 | 76515197 | 76515197 | Human | | name |
| 598191657 | CV3925788 | single nucleotide variant | NM_001347684.2(UPK3B):c.344C>T (p.Pro115Leu) | not specified [RCV005288393] | uncertain significance | 7 | 76511765 | 76511765 | Human | | name |
| 598274784 | CV3925791 | single nucleotide variant | NM_001347684.2(UPK3B):c.311A>G (p.Tyr104Cys) | not specified [RCV005304116] | uncertain significance | 7 | 76511732 | 76511732 | Human | | name |
| 598274786 | CV3925792 | single nucleotide variant | NM_001347684.2(UPK3B):c.795G>T (p.Lys265Asn) | not specified [RCV005304117] | uncertain significance | 7 | 76515168 | 76515168 | Human | | name |
| 598274788 | CV3925793 | single nucleotide variant | NM_001347684.2(UPK3B):c.370G>A (p.Gly124Arg) | not specified [RCV005304118] | uncertain significance | 7 | 76511791 | 76511791 | Human | | name |
| 617150224 | CV4021679 | single nucleotide variant | NM_001114403.3(UPK3BL1):c.561A>G (p.Gln187=) | not provided [RCV005425648] | likely benign | 7 | 102639124 | 102639124 | Human | | name |
| 329349475 | CV2443542 | single nucleotide variant | NM_001114403.3(UPK3BL1):c.191C>T (p.Thr64Met) | not specified [RCV004262371] | likely benign | 7 | 102640695 | 102640695 | Human | | name |
| 405810365 | CV3345250 | single nucleotide variant | NM_001114403.3(UPK3BL1):c.544G>A (p.Asp182Asn) | not specified [RCV004482210] | uncertain significance | 7 | 102639141 | 102639141 | Human | | name |
| 405810366 | CV3345251 | single nucleotide variant | NM_001114403.3(UPK3BL1):c.551G>C (p.Arg184Pro) | not specified [RCV004482211] | uncertain significance | 7 | 102639134 | 102639134 | Human | | name |
| 405810368 | CV3345252 | single nucleotide variant | NM_001114403.3(UPK3BL1):c.575G>A (p.Arg192Gln) | not specified [RCV004482212] | likely benign | 7 | 102638822 | 102638822 | Human | | name |
| 405810370 | CV3345253 | single nucleotide variant | NM_001114403.3(UPK3BL1):c.641C>T (p.Ala214Val) | not specified [RCV004482213] | uncertain significance | 7 | 102638756 | 102638756 | Human | | name |
| 405810372 | CV3345254 | single nucleotide variant | NM_001114403.3(UPK3BL1):c.643G>A (p.Val215Ile) | not specified [RCV004482214] | uncertain significance | 7 | 102638754 | 102638754 | Human | | name |
| 405810374 | CV3345255 | single nucleotide variant | NM_001114403.3(UPK3BL1):c.670C>T (p.Leu224Phe) | not specified [RCV004482215] | uncertain significance | 7 | 102638727 | 102638727 | Human | | name |
| 405810376 | CV3345256 | single nucleotide variant | NM_001114403.3(UPK3BL1):c.673A>C (p.Ile225Leu) | not specified [RCV004482216] | uncertain significance | 7 | 102638724 | 102638724 | Human | | name |
| 405810378 | CV3345257 | single nucleotide variant | NM_001114403.3(UPK3BL1):c.685T>G (p.Phe229Val) | not specified [RCV004482217] | uncertain significance | 7 | 102637632 | 102637632 | Human | | name |
| 405810380 | CV3345258 | single nucleotide variant | NM_001114403.3(UPK3BL1):c.752C>T (p.Thr251Met) | not specified [RCV004482218] | uncertain significance | 7 | 102637565 | 102637565 | Human | | name |
| 407454879 | CV3489441 | single nucleotide variant | NM_001114403.3(UPK3BL1):c.749C>A (p.Thr250Asn) | not specified [RCV004685280] | likely benign | 7 | 102637568 | 102637568 | Human | | name |
| 597721704 | CV3629216 | single nucleotide variant | NM_001114403.3(UPK3BL1):c.511G>C (p.Glu171Gln) | not specified [RCV004887938] | uncertain significance | 7 | 102639174 | 102639174 | Human | | name |