| 405282247 | CV3216302 | single nucleotide variant | NM_001407.3(CELSR3):c.*9C>T | CELSR3-related disorder [RCV003956813] | likely benign | 3 | 48638196 | 48638196 | Human | | name , trait , alternate_id |
| 156435074 | CV2403347 | single nucleotide variant | NM_001407.3(CELSR3):c.4399+1G>C | Autism spectrum disorder [RCV003127283] | likely benign | 3 | 48656697 | 48656697 | Human | 2 | name |
| 329355952 | CV2477567 | single nucleotide variant | NM_001407.3(CELSR3):c.5634+1G>T | Tourette syndrome [RCV003223514] | uncertain significance | 3 | 48653001 | 48653001 | Human | 1 | name |
| 405286202 | CV3196587 | single nucleotide variant | NM_001407.3(CELSR3):c.9912-8G>A | CELSR3-related disorder [RCV003981438] | likely benign | 3 | 48638240 | 48638240 | Human | | name , trait , alternate_id |
| 405270174 | CV3198060 | single nucleotide variant | NM_001407.3(CELSR3):c.8086-5T>G | CELSR3-related disorder [RCV003899870] | likely benign | 3 | 48644300 | 48644300 | Human | | name , trait , alternate_id |
| 405270123 | CV3215417 | single nucleotide variant | NM_001407.3(CELSR3):c.8165+7T>C | CELSR3-related disorder [RCV003949167] | likely benign | 3 | 48644209 | 48644209 | Human | | name , trait , alternate_id |
| 405272353 | CV3221711 | single nucleotide variant | NM_001407.3(CELSR3):c.4626-9C>A | CELSR3-related disorder [RCV003972151] | benign | 3 | 48655860 | 48655860 | Human | | name , trait , alternate_id |
| 408380368 | CV3514472 | single nucleotide variant | NM_001407.3(CELSR3):c.7464-9T>C | CELSR3-related disorder [RCV004754122] | likely benign | 3 | 48645877 | 48645877 | Human | | name , trait , alternate_id |
| 597768992 | CV3645266 | single nucleotide variant | NM_001407.3(CELSR3):c.7G>A (p.Ala3Thr) | not specified [RCV004896629] | uncertain significance | 3 | 48662628 | 48662628 | Human | | name |
| 156196948 | CV2306769 | single nucleotide variant | NM_001407.3(CELSR3):c.24G>C (p.Trp8Cys) | not specified [RCV004159348] | uncertain significance | 3 | 48662611 | 48662611 | Human | | name |
| 156061052 | CV2351295 | single nucleotide variant | NM_001407.3(CELSR3):c.49C>T (p.Pro17Ser) | not specified [RCV004192999] | uncertain significance | 3 | 48662586 | 48662586 | Human | | name |
| 401888048 | CV2781876 | single nucleotide variant | NM_001407.3(CELSR3):c.94G>C (p.Glu32Gln) | not specified [RCV004356819] | uncertain significance | 3 | 48662541 | 48662541 | Human | | name |
| 405272044 | CV3203061 | single nucleotide variant | NM_001407.3(CELSR3):c.934C>A (p.Arg312=) | CELSR3-related disorder [RCV003914112] | benign | 3 | 48661701 | 48661701 | Human | | name , trait , alternate_id |
| 155964756 | CV2210080 | single nucleotide variant | NM_001407.3(CELSR3):c.160G>T (p.Ala54Ser) | not specified [RCV004076508] | uncertain significance | 3 | 48662475 | 48662475 | Human | | name |
| 156157619 | CV2322586 | single nucleotide variant | NM_001407.3(CELSR3):c.223G>A (p.Gly75Arg) | not specified [RCV004182736] | uncertain significance | 3 | 48662412 | 48662412 | Human | | name |
| 156201562 | CV2338489 | single nucleotide variant | NM_001407.3(CELSR3):c.133G>A (p.Gly45Ser) | not provided [RCV003883915]|not specified [RCV004188529] | likely benign|uncertain significance | 3 | 48662502 | 48662502 | Human | | name |
| 401734991 | CV2690738 | single nucleotide variant | NM_001407.3(CELSR3):c.107G>C (p.Gly36Ala) | not specified [RCV004298460] | uncertain significance | 3 | 48662528 | 48662528 | Human | | name |
| 401885009 | CV2771140 | single nucleotide variant | NM_001407.3(CELSR3):c.281G>A (p.Ser94Asn) | not specified [RCV004346137] | uncertain significance | 3 | 48662354 | 48662354 | Human | | name |
| 405279250 | CV3206854 | single nucleotide variant | NM_001407.3(CELSR3):c.1650C>T (p.Tyr550=) | CELSR3-related disorder [RCV003919417] | likely benign | 3 | 48660985 | 48660985 | Human | | name , trait , alternate_id |
| 405270307 | CV3215481 | single nucleotide variant | NM_001407.3(CELSR3):c.2478C>T (p.Tyr826=) | CELSR3-related disorder [RCV003949221] | likely benign | 3 | 48660157 | 48660157 | Human | | name , trait , alternate_id |
| 405760109 | CV3303970 | single nucleotide variant | NM_001407.3(CELSR3):c.238G>T (p.Val80Phe) | not specified [RCV004433485] | uncertain significance | 3 | 48662397 | 48662397 | Human | | name |
| 405760128 | CV3303973 | single nucleotide variant | NM_001407.3(CELSR3):c.279A>C (p.Gln93His) | not specified [RCV004433488] | uncertain significance | 3 | 48662356 | 48662356 | Human | | name |
| 597778915 | CV3645304 | single nucleotide variant | NM_001407.3(CELSR3):c.230G>A (p.Gly77Asp) | not specified [RCV004899143] | uncertain significance | 3 | 48662405 | 48662405 | Human | | name |
| 598241216 | CV3951274 | single nucleotide variant | NM_001407.3(CELSR3):c.203C>T (p.Ser68Phe) | not specified [RCV005321510] | uncertain significance | 3 | 48662432 | 48662432 | Human | | name |
| 598195143 | CV3951277 | single nucleotide variant | NM_001407.3(CELSR3):c.289A>G (p.Asn97Asp) | not specified [RCV005313281] | uncertain significance | 3 | 48662346 | 48662346 | Human | | name |
| 15161484 | CV708921 | single nucleotide variant | NM_001407.3(CELSR3):c.2658C>T (p.Asp886=) | not provided [RCV000970097] | benign | 3 | 48659977 | 48659977 | Human | | name |
| 15141705 | CV781730 | single nucleotide variant | NM_001407.3(CELSR3):c.2997T>C (p.Thr999=) | not provided [RCV000983025] | likely benign | 3 | 48659638 | 48659638 | Human | | name |
| 150335181 | CV1165680 | single nucleotide variant | NM_001407.3(CELSR3):c.8658A>G (p.Arg2886=) | not provided [RCV001531392] | likely benign | 3 | 48642365 | 48642365 | Human | | name |
| 150335184 | CV1165681 | single nucleotide variant | NM_001407.3(CELSR3):c.7395A>G (p.Leu2465=) | not provided [RCV001531393] | likely benign | 3 | 48646158 | 48646158 | Human | | name |
| 150529224 | CV1288778 | single nucleotide variant | NM_001407.3(CELSR3):c.5310C>T (p.Asn1770=) | not provided [RCV001727246] | likely benign | 3 | 48653757 | 48653757 | Human | | name |
| 156169207 | CV2247300 | single nucleotide variant | NM_001407.3(CELSR3):c.587G>A (p.Arg196His) | not specified [RCV004108650] | uncertain significance | 3 | 48662048 | 48662048 | Human | | name |
| 156299595 | CV2248668 | single nucleotide variant | NM_001407.3(CELSR3):c.884C>G (p.Pro295Arg) | not specified [RCV004121844] | uncertain significance | 3 | 48661751 | 48661751 | Human | | name |
| 156317253 | CV2251024 | single nucleotide variant | NM_001407.3(CELSR3):c.859C>T (p.Leu287Phe) | not specified [RCV004123587] | uncertain significance | 3 | 48661776 | 48661776 | Human | | name |
| 156274991 | CV2255606 | single nucleotide variant | NM_001407.3(CELSR3):c.332T>C (p.Ile111Thr) | not specified [RCV004120021] | uncertain significance | 3 | 48662303 | 48662303 | Human | | name |
| 156164112 | CV2323652 | single nucleotide variant | NM_001407.3(CELSR3):c.823C>T (p.Arg275Cys) | not specified [RCV004165836] | uncertain significance | 3 | 48661812 | 48661812 | Human | | name |
| 156090487 | CV2344676 | single nucleotide variant | NM_001407.3(CELSR3):c.584C>T (p.Ser195Phe) | not specified [RCV004197443] | uncertain significance | 3 | 48662051 | 48662051 | Human | | name |
| 401734634 | CV2690639 | single nucleotide variant | NM_001407.3(CELSR3):c.943T>C (p.Phe315Leu) | not specified [RCV004298377] | uncertain significance | 3 | 48661692 | 48661692 | Human | | name |
| 401762974 | CV2720148 | single nucleotide variant | NM_001407.3(CELSR3):c.586C>T (p.Arg196Cys) | not specified [RCV004323707] | uncertain significance | 3 | 48662049 | 48662049 | Human | | name |
| 401931756 | CV2803820 | single nucleotide variant | NM_001407.3(CELSR3):c.845T>C (p.Phe282Ser) | CELSR3-related disorder [RCV003391476]|not specified [RCV005310979] | uncertain significance | 3 | 48661790 | 48661790 | Human | | name , trait , alternate_id |
| 405262623 | CV3200423 | single nucleotide variant | NM_001407.3(CELSR3):c.8970G>A (p.Pro2990=) | CELSR3-related disorder [RCV003967326] | likely benign | 3 | 48641379 | 48641379 | Human | | name , trait , alternate_id |
| 405265344 | CV3202654 | single nucleotide variant | NM_001407.3(CELSR3):c.7854G>A (p.Ala2618=) | CELSR3-related disorder [RCV003897379] | likely benign | 3 | 48645153 | 48645153 | Human | | name , trait , alternate_id |
| 405257972 | CV3207983 | single nucleotide variant | NM_001407.3(CELSR3):c.4269C>T (p.Cys1423=) | CELSR3-related disorder [RCV003941449] | likely benign | 3 | 48656828 | 48656828 | Human | | name , trait , alternate_id |
| 405256090 | CV3208600 | single nucleotide variant | NM_001407.3(CELSR3):c.7836C>T (p.Phe2612=) | CELSR3-related disorder [RCV003939673] | likely benign | 3 | 48645171 | 48645171 | Human | | name , trait , alternate_id |
| 405294425 | CV3211363 | single nucleotide variant | NM_001407.3(CELSR3):c.509C>T (p.Pro170Leu) | CELSR3-related disorder [RCV003934364] | likely benign | 3 | 48662126 | 48662126 | Human | | name , trait , alternate_id |
| 405282331 | CV3212805 | single nucleotide variant | NM_001407.3(CELSR3):c.6027C>T (p.Asp2009=) | CELSR3-related disorder [RCV003956952] | benign | 3 | 48651615 | 48651615 | Human | | name , trait , alternate_id |
| 405266499 | CV3213132 | single nucleotide variant | NM_001407.3(CELSR3):c.3375G>A (p.Thr1125=) | CELSR3-related disorder [RCV003969287] | likely benign | 3 | 48659260 | 48659260 | Human | | name , trait , alternate_id |
| 405281887 | CV3213741 | single nucleotide variant | NM_001407.3(CELSR3):c.6879A>C (p.Gly2293=) | CELSR3-related disorder [RCV003907380] | likely benign | 3 | 48648360 | 48648360 | Human | | name , trait , alternate_id |
| 405278662 | CV3216722 | single nucleotide variant | NM_001407.3(CELSR3):c.6342C>T (p.Phe2114=) | CELSR3-related disorder [RCV003954607] | likely benign | 3 | 48650920 | 48650920 | Human | | name , trait , alternate_id |
| 405282833 | CV3216818 | single nucleotide variant | NM_001407.3(CELSR3):c.9123T>A (p.Ala3041=) | CELSR3-related disorder [RCV003979000] | benign | 3 | 48640462 | 48640462 | Human | | name , trait , alternate_id |
| 405283005 | CV3216892 | single nucleotide variant | NM_001407.3(CELSR3):c.7728C>A (p.Ala2576=) | CELSR3-related disorder [RCV003979057] | likely benign | 3 | 48645512 | 48645512 | Human | | name , trait , alternate_id |
| 405279558 | CV3217523 | single nucleotide variant | NM_001407.3(CELSR3):c.3843C>T (p.Asn1281=) | CELSR3-related disorder [RCV003976917] | likely benign | 3 | 48657254 | 48657254 | Human | | name , trait , alternate_id |
| 405292834 | CV3217554 | single nucleotide variant | NM_001407.3(CELSR3):c.3912T>C (p.Ala1304=) | CELSR3-related disorder [RCV003964765] | likely benign | 3 | 48657185 | 48657185 | Human | | name , trait , alternate_id |
| 405289857 | CV3219812 | single nucleotide variant | NM_001407.3(CELSR3):c.4275C>T (p.Pro1425=) | CELSR3-related disorder [RCV003961989] | likely benign | 3 | 48656822 | 48656822 | Human | | name , trait , alternate_id |
| 405760287 | CV3304001 | single nucleotide variant | NM_001407.3(CELSR3):c.769G>A (p.Ala257Thr) | not specified [RCV004433516] | uncertain significance | 3 | 48661866 | 48661866 | Human | | name |
| 405760307 | CV3304005 | single nucleotide variant | NM_001407.3(CELSR3):c.853C>T (p.Arg285Cys) | not specified [RCV004433520] | uncertain significance | 3 | 48661782 | 48661782 | Human | | name |
| 405760324 | CV3304008 | single nucleotide variant | NM_001407.3(CELSR3):c.909A>C (p.Glu303Asp) | not specified [RCV004433523] | uncertain significance | 3 | 48661726 | 48661726 | Human | | name |
| 407461421 | CV3418898 | single nucleotide variant | NM_001407.3(CELSR3):c.872C>G (p.Pro291Arg) | not specified [RCV004612599] | uncertain significance | 3 | 48661763 | 48661763 | Human | | name |
| 408380344 | CV3514182 | single nucleotide variant | NM_001407.3(CELSR3):c.7395A>T (p.Leu2465=) | CELSR3-related disorder [RCV004754104] | likely benign | 3 | 48646158 | 48646158 | Human | | name , trait , alternate_id |
| 597769049 | CV3645278 | single nucleotide variant | NM_001407.3(CELSR3):c.614G>C (p.Cys205Ser) | not specified [RCV004896640] | uncertain significance | 3 | 48662021 | 48662021 | Human | | name |
| 597769086 | CV3645286 | single nucleotide variant | NM_001407.3(CELSR3):c.791A>T (p.Glu264Val) | not specified [RCV004896647] | uncertain significance | 3 | 48661844 | 48661844 | Human | | name |
| 597769129 | CV3645295 | single nucleotide variant | NM_001407.3(CELSR3):c.766C>G (p.Pro256Ala) | not specified [RCV004896655] | uncertain significance | 3 | 48661869 | 48661869 | Human | | name |
| 597778930 | CV3645308 | single nucleotide variant | NM_001407.3(CELSR3):c.835C>T (p.Arg279Trp) | not specified [RCV004899147] | uncertain significance | 3 | 48661800 | 48661800 | Human | | name |
| 598195192 | CV3951285 | single nucleotide variant | NM_001407.3(CELSR3):c.736G>T (p.Asp246Tyr) | not specified [RCV005313289] | uncertain significance | 3 | 48661899 | 48661899 | Human | | name |
| 598195239 | CV3951294 | single nucleotide variant | NM_001407.3(CELSR3):c.715T>A (p.Ser239Thr) | not specified [RCV005313297] | uncertain significance | 3 | 48661920 | 48661920 | Human | | name |
| 598195287 | CV3951304 | single nucleotide variant | NM_001407.3(CELSR3):c.846C>G (p.Phe282Leu) | not specified [RCV005313305] | uncertain significance | 3 | 48661789 | 48661789 | Human | | name |
| 598195293 | CV3951305 | single nucleotide variant | NM_001407.3(CELSR3):c.839G>A (p.Gly280Asp) | not specified [RCV005313306] | uncertain significance | 3 | 48661796 | 48661796 | Human | | name |
| 598241254 | CV3951309 | single nucleotide variant | NM_001407.3(CELSR3):c.692G>A (p.Arg231Gln) | not specified [RCV005321516] | uncertain significance | 3 | 48661943 | 48661943 | Human | | name |
| 13534558 | CV500845 | single nucleotide variant | NM_001407.3(CELSR3):c.9882C>T (p.His3294=) | not provided [RCV004711226]|not specified [RCV000601928] | likely benign | 3 | 48639703 | 48639703 | Human | | name |
| 15190876 | CV698158 | single nucleotide variant | NM_001407.3(CELSR3):c.4059G>A (p.Gln1353=) | not provided [RCV000954608] | benign|likely benign | 3 | 48657038 | 48657038 | Human | | name |
| 15156632 | CV698159 | single nucleotide variant | NM_001407.3(CELSR3):c.383G>T (p.Gly128Val) | not provided [RCV000946736] | benign | 3 | 48662252 | 48662252 | Human | | name |
| 15133246 | CV708920 | single nucleotide variant | NM_001407.3(CELSR3):c.8472C>T (p.Gly2824=) | not provided [RCV000964918] | benign | 3 | 48642819 | 48642819 | Human | | name |
| 15157007 | CV748356 | single nucleotide variant | NM_001407.3(CELSR3):c.9252A>G (p.Arg3084=) | not provided [RCV000924777] | likely benign | 3 | 48640333 | 48640333 | Human | | name |
| 15145716 | CV748357 | single nucleotide variant | NM_001407.3(CELSR3):c.3405C>T (p.Arg1135=) | not provided [RCV000922592] | likely benign | 3 | 48659230 | 48659230 | Human | | name |
| 15185894 | CV763998 | single nucleotide variant | NM_001407.3(CELSR3):c.9159C>T (p.Gly3053=) | not provided [RCV000931191] | likely benign | 3 | 48640426 | 48640426 | Human | | name |
| 15132142 | CV763999 | single nucleotide variant | NM_001407.3(CELSR3):c.5967C>G (p.Pro1989=) | not provided [RCV000942350] | likely benign | 3 | 48651675 | 48651675 | Human | | name |
| 28878216 | CV859285 | single nucleotide variant | NM_001407.3(CELSR3):c.4911G>A (p.Val1637=) | not provided [RCV001090578] | uncertain significance | 3 | 48655121 | 48655121 | Human | | name |
| 8630871 | CV86026 | single nucleotide variant | NM_001407.2(CELSR3):c.3318C>T (p.Ile1106=) | Malignant melanoma [RCV000066110] | not provided | 3 | 48659317 | 48659317 | Human | | name |
| 150461629 | CV1214537 | single nucleotide variant | NM_001407.3(CELSR3):c.2414G>C (p.Ser805Thr) | Tourette syndrome [RCV001849533]|not provided [RCV001613530] | likely risk allele|benign | 3 | 48660221 | 48660221 | Human | 1 | name |
| 156175205 | CV2205228 | single nucleotide variant | NM_001407.3(CELSR3):c.2773G>A (p.Val925Met) | not specified [RCV004079857] | uncertain significance | 3 | 48659862 | 48659862 | Human | | name |
| 156111124 | CV2207826 | single nucleotide variant | NM_001407.3(CELSR3):c.1132A>G (p.Ile378Val) | not specified [RCV004084259] | uncertain significance | 3 | 48661503 | 48661503 | Human | | name |
| 156041403 | CV2219569 | single nucleotide variant | NM_001407.3(CELSR3):c.1843G>A (p.Glu615Lys) | not specified [RCV004095299] | uncertain significance | 3 | 48660792 | 48660792 | Human | | name |
| 156119176 | CV2228836 | single nucleotide variant | NM_001407.3(CELSR3):c.2714G>A (p.Arg905His) | not specified [RCV004095074] | uncertain significance | 3 | 48659921 | 48659921 | Human | | name |
| 155976090 | CV2235987 | single nucleotide variant | NM_001407.3(CELSR3):c.2540A>G (p.Asn847Ser) | not specified [RCV004113863] | uncertain significance | 3 | 48660095 | 48660095 | Human | | name |
| 156061785 | CV2263161 | single nucleotide variant | NM_001407.3(CELSR3):c.1019C>A (p.Ala340Glu) | not specified [RCV004131395] | uncertain significance | 3 | 48661616 | 48661616 | Human | | name |
| 155999781 | CV2287310 | single nucleotide variant | NM_001407.3(CELSR3):c.1594C>A (p.His532Asn) | not specified [RCV004146938] | uncertain significance | 3 | 48661041 | 48661041 | Human | | name |
| 156103848 | CV2291649 | single nucleotide variant | NM_001407.3(CELSR3):c.2204C>G (p.Pro735Arg) | not specified [RCV004155936] | uncertain significance | 3 | 48660431 | 48660431 | Human | | name |
| 156178098 | CV2317298 | single nucleotide variant | NM_001407.3(CELSR3):c.2484G>T (p.Lys828Asn) | not specified [RCV004178787] | uncertain significance | 3 | 48660151 | 48660151 | Human | | name |
| 156173338 | CV2333713 | single nucleotide variant | NM_001407.3(CELSR3):c.1880G>A (p.Arg627Gln) | not specified [RCV004181226] | uncertain significance | 3 | 48660755 | 48660755 | Human | | name |
| 155908009 | CV2354548 | single nucleotide variant | NM_001407.3(CELSR3):c.1391C>A (p.Pro464His) | not specified [RCV004202526] | uncertain significance | 3 | 48661244 | 48661244 | Human | | name |
| 156213211 | CV2367052 | single nucleotide variant | NM_001407.3(CELSR3):c.1391C>T (p.Pro464Leu) | not specified [RCV004215500] | uncertain significance | 3 | 48661244 | 48661244 | Human | | name |
| 155906670 | CV2379098 | single nucleotide variant | NM_001407.3(CELSR3):c.1597A>G (p.Ile533Val) | not specified [RCV004235899] | uncertain significance | 3 | 48661038 | 48661038 | Human | | name |
| 156213609 | CV2385860 | single nucleotide variant | NM_001407.3(CELSR3):c.2739T>G (p.Ile913Met) | not specified [RCV004226905] | uncertain significance | 3 | 48659896 | 48659896 | Human | | name |
| 156188652 | CV2395487 | single nucleotide variant | NM_001407.3(CELSR3):c.2962C>T (p.Arg988Trp) | not specified [RCV004241353] | uncertain significance | 3 | 48659673 | 48659673 | Human | | name |
| 329359211 | CV2450924 | single nucleotide variant | NM_001407.3(CELSR3):c.2908G>A (p.Val970Ile) | not specified [RCV004267821] | uncertain significance | 3 | 48659727 | 48659727 | Human | | name |
| 401778550 | CV2732622 | single nucleotide variant | NM_001407.3(CELSR3):c.2617A>T (p.Met873Leu) | not specified [RCV004332590] | uncertain significance | 3 | 48660018 | 48660018 | Human | | name |
| 401889514 | CV2758163 | single nucleotide variant | NM_001407.3(CELSR3):c.2983C>T (p.Arg995Trp) | not specified [RCV004341537] | uncertain significance | 3 | 48659652 | 48659652 | Human | | name |
| 401866274 | CV2762589 | single nucleotide variant | NM_001407.3(CELSR3):c.2401C>T (p.Arg801Cys) | not specified [RCV004338113] | uncertain significance | 3 | 48660234 | 48660234 | Human | | name |
| 401865609 | CV2791515 | single nucleotide variant | NM_001407.3(CELSR3):c.1714C>T (p.Arg572Trp) | not specified [RCV004358896] | uncertain significance | 3 | 48660921 | 48660921 | Human | | name |
| 401926406 | CV2827393 | single nucleotide variant | NM_001407.3(CELSR3):c.1961C>T (p.Thr654Met) | CELSR3-related disorder [RCV003966402]|not provided [RCV003437831] | benign|likely benign | 3 | 48660674 | 48660674 | Human | | name , trait , alternate_id |
| 401945709 | CV2839587 | single nucleotide variant | NM_001407.3(CELSR3):c.1574G>A (p.Arg525His) | See cases [RCV003458263] | likely pathogenic | 3 | 48661061 | 48661061 | Human | | name |
| 404989847 | CV2849799 | single nucleotide variant | NM_001407.3(CELSR3):c.1624G>T (p.Ala542Ser) | not provided [RCV003490551] | uncertain significance | 3 | 48661011 | 48661011 | Human | | name |
| 405274079 | CV3194978 | single nucleotide variant | NM_001407.3(CELSR3):c.2257C>T (p.Arg753Trp) | CELSR3-related disorder [RCV003902220] | likely benign | 3 | 48660378 | 48660378 | Human | | name , trait , alternate_id |
| 405760056 | CV3303961 | single nucleotide variant | NM_001407.3(CELSR3):c.1367G>A (p.Arg456His) | not specified [RCV004433476] | uncertain significance | 3 | 48661268 | 48661268 | Human | | name |
| 405760063 | CV3303962 | single nucleotide variant | NM_001407.3(CELSR3):c.1411C>T (p.Arg471Cys) | not specified [RCV004433477] | uncertain significance | 3 | 48661224 | 48661224 | Human | | name |
| 405760068 | CV3303963 | single nucleotide variant | NM_001407.3(CELSR3):c.1450G>A (p.Ala484Thr) | not specified [RCV004433478] | uncertain significance | 3 | 48661185 | 48661185 | Human | | name |
| 405760075 | CV3303964 | single nucleotide variant | NM_001407.3(CELSR3):c.1684A>G (p.Thr562Ala) | not specified [RCV004433479] | uncertain significance | 3 | 48660951 | 48660951 | Human | | name |
| 405760079 | CV3303965 | single nucleotide variant | NM_001407.3(CELSR3):c.1769G>A (p.Arg590His) | not specified [RCV004433480] | uncertain significance | 3 | 48660866 | 48660866 | Human | | name |
| 405760086 | CV3303966 | single nucleotide variant | NM_001407.3(CELSR3):c.1895A>G (p.Asn632Ser) | not specified [RCV004433481] | uncertain significance | 3 | 48660740 | 48660740 | Human | | name |
| 405760090 | CV3303967 | single nucleotide variant | NM_001407.3(CELSR3):c.1936G>A (p.Asp646Asn) | not specified [RCV004433482] | uncertain significance | 3 | 48660699 | 48660699 | Human | | name |
| 405760097 | CV3303968 | single nucleotide variant | NM_001407.3(CELSR3):c.1964C>T (p.Pro655Leu) | not specified [RCV004433483] | uncertain significance | 3 | 48660671 | 48660671 | Human | | name |
| 405760719 | CV3303969 | single nucleotide variant | NM_001407.3(CELSR3):c.2219C>A (p.Ala740Asp) | not specified [RCV004433484] | uncertain significance | 3 | 48660416 | 48660416 | Human | | name |
| 405760114 | CV3303971 | single nucleotide variant | NM_001407.3(CELSR3):c.2659G>A (p.Val887Met) | not specified [RCV004433486] | uncertain significance | 3 | 48659976 | 48659976 | Human | | name |
| 405760133 | CV3303974 | single nucleotide variant | NM_001407.3(CELSR3):c.2860G>A (p.Val954Met) | not specified [RCV004433489] | uncertain significance | 3 | 48659775 | 48659775 | Human | | name |
| 405760140 | CV3303975 | single nucleotide variant | NM_001407.3(CELSR3):c.2920G>T (p.Ala974Ser) | not specified [RCV004433490] | uncertain significance | 3 | 48659715 | 48659715 | Human | | name |
| 407461378 | CV3418887 | single nucleotide variant | NM_001407.3(CELSR3):c.2800C>T (p.Arg934Trp) | not specified [RCV004612588] | uncertain significance | 3 | 48659835 | 48659835 | Human | | name |
| 407461381 | CV3418888 | single nucleotide variant | NM_001407.3(CELSR3):c.2110G>A (p.Ala704Thr) | not specified [RCV004612589] | uncertain significance | 3 | 48660525 | 48660525 | Human | | name |
| 407461405 | CV3418894 | single nucleotide variant | NM_001407.3(CELSR3):c.2633T>C (p.Val878Ala) | not specified [RCV004612595] | uncertain significance | 3 | 48660002 | 48660002 | Human | | name |
| 597769007 | CV3645270 | single nucleotide variant | NM_001407.3(CELSR3):c.1886C>T (p.Pro629Leu) | not specified [RCV004896632] | uncertain significance | 3 | 48660749 | 48660749 | Human | | name |
| 597769012 | CV3645271 | single nucleotide variant | NM_001407.3(CELSR3):c.2680A>G (p.Thr894Ala) | not specified [RCV004896633] | uncertain significance | 3 | 48659955 | 48659955 | Human | | name |
| 597778893 | CV3645298 | single nucleotide variant | NM_001407.3(CELSR3):c.1324C>A (p.Leu442Ile) | not specified [RCV004899138] | uncertain significance | 3 | 48661311 | 48661311 | Human | | name |
| 597778900 | CV3645301 | single nucleotide variant | NM_001407.3(CELSR3):c.2458G>T (p.Asp820Tyr) | not specified [RCV004899140] | uncertain significance | 3 | 48660177 | 48660177 | Human | | name |
| 597778937 | CV3645310 | single nucleotide variant | NM_001407.3(CELSR3):c.2383G>A (p.Gly795Ser) | not specified [RCV004899149] | uncertain significance | 3 | 48660252 | 48660252 | Human | | name |
| 598195138 | CV3951273 | single nucleotide variant | NM_001407.3(CELSR3):c.1061C>T (p.Ala354Val) | not specified [RCV005313280] | uncertain significance | 3 | 48661574 | 48661574 | Human | | name |
| 598195202 | CV3951287 | single nucleotide variant | NM_001407.3(CELSR3):c.1088C>T (p.Ser363Leu) | not specified [RCV005313291] | uncertain significance | 3 | 48661547 | 48661547 | Human | | name |
| 598241234 | CV3951288 | single nucleotide variant | NM_001407.3(CELSR3):c.2087A>T (p.Asp696Val) | not specified [RCV005321513] | uncertain significance | 3 | 48660548 | 48660548 | Human | | name |
| 598195227 | CV3951292 | single nucleotide variant | NM_001407.3(CELSR3):c.2968G>T (p.Ala990Ser) | not specified [RCV005313295] | uncertain significance | 3 | 48659667 | 48659667 | Human | | name |
| 598195232 | CV3951293 | single nucleotide variant | NM_001407.3(CELSR3):c.2167T>C (p.Phe723Leu) | not specified [RCV005313296] | uncertain significance | 3 | 48660468 | 48660468 | Human | | name |
| 598195257 | CV3951298 | single nucleotide variant | NM_001407.3(CELSR3):c.2278G>A (p.Glu760Lys) | not specified [RCV005313300] | uncertain significance | 3 | 48660357 | 48660357 | Human | | name |
| 598195263 | CV3951300 | single nucleotide variant | NM_001407.3(CELSR3):c.2590T>G (p.Ser864Ala) | not specified [RCV005313301] | uncertain significance | 3 | 48660045 | 48660045 | Human | | name |
| 598195348 | CV3951315 | single nucleotide variant | NM_001407.3(CELSR3):c.2348G>T (p.Arg783Leu) | not specified [RCV005313315] | uncertain significance | 3 | 48660287 | 48660287 | Human | | name |
| 598195352 | CV3951316 | single nucleotide variant | NM_001407.3(CELSR3):c.1664G>T (p.Arg555Leu) | not specified [RCV005313316] | uncertain significance | 3 | 48660971 | 48660971 | Human | | name |
| 15190299 | CV720521 | single nucleotide variant | NM_001407.3(CELSR3):c.2580T>G (p.Ser860Arg) | not provided [RCV000888061] | benign | 3 | 48660055 | 48660055 | Human | | name |
| 8574343 | CV106648 | single nucleotide variant | NM_001407.3(CELSR3):c.6407G>A (p.Gly2136Asp) | not provided [RCV000087146] | uncertain significance | 3 | 48650545 | 48650545 | Human | | name |
| 8578678 | CV113066 | single nucleotide variant | NM_001407.2(CELSR3):c.3616C>G (p.Leu1206Val) | Lung cancer [RCV000093589] | uncertain significance | 3 | 48659019 | 48659019 | Human | | name |
| 151732623 | CV1336395 | single nucleotide variant | NM_001407.3(CELSR3):c.7853C>T (p.Ala2618Val) | Tourette syndrome [RCV001849623] | likely risk allele | 3 | 48645154 | 48645154 | Human | 1 | name |
| 151732630 | CV1336397 | single nucleotide variant | NM_001407.3(CELSR3):c.8765G>A (p.Arg2922His) | Tourette syndrome [RCV001849625] | likely risk allele | 3 | 48641910 | 48641910 | Human | 1 | name |
| 153001862 | CV1682717 | single nucleotide variant | NM_001407.3(CELSR3):c.8786G>T (p.Arg2929Leu) | not provided [RCV002251796] | uncertain significance | 3 | 48641889 | 48641889 | Human | | name |
| 153349701 | CV1693848 | single nucleotide variant | NM_001407.3(CELSR3):c.5372T>C (p.Leu1791Pro) | not provided [RCV002276118] | uncertain significance | 3 | 48653695 | 48653695 | Human | | name |
| 156253085 | CV2192986 | single nucleotide variant | NM_001407.3(CELSR3):c.3881G>A (p.Arg1294His) | not specified [RCV004069539] | likely benign | 3 | 48657216 | 48657216 | Human | | name |
| 156398604 | CV2194675 | single nucleotide variant | NM_001407.3(CELSR3):c.9005G>A (p.Arg3002Gln) | not specified [RCV004075235] | uncertain significance | 3 | 48641344 | 48641344 | Human | | name |
| 156270688 | CV2195178 | single nucleotide variant | NM_001407.3(CELSR3):c.5539C>T (p.Arg1847Trp) | not specified [RCV004080123] | uncertain significance | 3 | 48653097 | 48653097 | Human | | name |
| 156179201 | CV2201640 | single nucleotide variant | NM_001407.3(CELSR3):c.6793G>A (p.Gly2265Ser) | not specified [RCV004082102] | uncertain significance | 3 | 48648446 | 48648446 | Human | | name |
| 156134961 | CV2213264 | single nucleotide variant | NM_001407.3(CELSR3):c.8536C>T (p.Arg2846Trp) | not specified [RCV004085483] | uncertain significance | 3 | 48642755 | 48642755 | Human | | name |
| 155971169 | CV2214073 | single nucleotide variant | NM_001407.3(CELSR3):c.6145G>A (p.Asp2049Asn) | not specified [RCV004086082] | uncertain significance | 3 | 48651400 | 48651400 | Human | | name |
| 156239161 | CV2217191 | single nucleotide variant | NM_001407.3(CELSR3):c.4495C>A (p.Arg1499Ser) | not specified [RCV004087646] | uncertain significance | 3 | 48656270 | 48656270 | Human | | name |
| 156240176 | CV2221313 | single nucleotide variant | NM_001407.3(CELSR3):c.3196G>T (p.Val1066Phe) | not specified [RCV004094737] | uncertain significance | 3 | 48659439 | 48659439 | Human | | name |
| 156240194 | CV2221314 | single nucleotide variant | NM_001407.3(CELSR3):c.5977C>G (p.Gln1993Glu) | not specified [RCV004094738] | uncertain significance | 3 | 48651665 | 48651665 | Human | | name |
| 156067316 | CV2221794 | single nucleotide variant | NM_001407.3(CELSR3):c.8875G>A (p.Glu2959Lys) | not specified [RCV004102826] | uncertain significance | 3 | 48641474 | 48641474 | Human | | name |
| 156080763 | CV2226651 | single nucleotide variant | NM_001407.3(CELSR3):c.7301C>T (p.Pro2434Leu) | not specified [RCV004101892] | uncertain significance | 3 | 48646252 | 48646252 | Human | | name |
| 156232065 | CV2227651 | single nucleotide variant | NM_001407.3(CELSR3):c.4084G>A (p.Ala1362Thr) | not specified [RCV004094055] | uncertain significance | 3 | 48657013 | 48657013 | Human | | name |
| 156335392 | CV2228383 | single nucleotide variant | NM_001407.3(CELSR3):c.8827G>A (p.Val2943Met) | not specified [RCV004098363] | uncertain significance | 3 | 48641522 | 48641522 | Human | | name |
| 156150112 | CV2234958 | single nucleotide variant | NM_001407.3(CELSR3):c.3059G>A (p.Arg1020His) | not specified [RCV004113158] | uncertain significance | 3 | 48659576 | 48659576 | Human | | name |
| 156032716 | CV2236041 | single nucleotide variant | NM_001407.3(CELSR3):c.7883A>C (p.Tyr2628Ser) | not specified [RCV004114205] | uncertain significance | 3 | 48645124 | 48645124 | Human | | name |
| 156298913 | CV2241011 | single nucleotide variant | NM_001407.3(CELSR3):c.5792T>C (p.Leu1931Pro) | not specified [RCV004102277] | uncertain significance | 3 | 48652008 | 48652008 | Human | | name |
| 156002697 | CV2257988 | single nucleotide variant | NM_001407.3(CELSR3):c.5728C>A (p.Gln1910Lys) | not specified [RCV004129796] | uncertain significance | 3 | 48652460 | 48652460 | Human | | name |
| 156141714 | CV2260586 | single nucleotide variant | NM_001407.3(CELSR3):c.6031G>A (p.Val2011Met) | not specified [RCV004123356] | uncertain significance | 3 | 48651611 | 48651611 | Human | | name |
| 155966437 | CV2261912 | single nucleotide variant | NM_001407.3(CELSR3):c.9689C>T (p.Ser3230Leu) | not specified [RCV004127962] | uncertain significance | 3 | 48639896 | 48639896 | Human | | name |
| 156058948 | CV2262939 | single nucleotide variant | NM_001407.3(CELSR3):c.8435T>C (p.Leu2812Pro) | not specified [RCV004125077] | uncertain significance | 3 | 48642856 | 48642856 | Human | | name |
| 156166268 | CV2270404 | single nucleotide variant | NM_001407.3(CELSR3):c.4853G>A (p.Gly1618Asp) | not specified [RCV004137384] | uncertain significance | 3 | 48655179 | 48655179 | Human | | name |
| 156336790 | CV2270917 | single nucleotide variant | NM_001407.3(CELSR3):c.9091T>G (p.Trp3031Gly) | not specified [RCV004131955] | uncertain significance | 3 | 48640494 | 48640494 | Human | | name |
| 156115077 | CV2273272 | single nucleotide variant | NM_001407.3(CELSR3):c.6530A>G (p.Asn2177Ser) | not specified [RCV004132065] | uncertain significance | 3 | 48649158 | 48649158 | Human | | name |
| 155915536 | CV2274231 | single nucleotide variant | NM_001407.3(CELSR3):c.5683C>T (p.Leu1895Phe) | not specified [RCV004136636] | uncertain significance | 3 | 48652505 | 48652505 | Human | | name |
| 156261855 | CV2282433 | single nucleotide variant | NM_001407.3(CELSR3):c.8473G>A (p.Ala2825Thr) | not specified [RCV004133242] | uncertain significance | 3 | 48642818 | 48642818 | Human | | name |
| 155965410 | CV2286947 | single nucleotide variant | NM_001407.3(CELSR3):c.8236A>C (p.Asn2746His) | not specified [RCV004144549] | uncertain significance | 3 | 48643607 | 48643607 | Human | | name |
| 156103861 | CV2291650 | single nucleotide variant | NM_001407.3(CELSR3):c.6368G>A (p.Arg2123Gln) | not specified [RCV004155937] | uncertain significance | 3 | 48650894 | 48650894 | Human | | name |
| 156284837 | CV2291935 | single nucleotide variant | NM_001407.3(CELSR3):c.9830C>T (p.Ser3277Phe) | not specified [RCV004158448] | uncertain significance | 3 | 48639755 | 48639755 | Human | | name |
| 156184734 | CV2294897 | single nucleotide variant | NM_001407.3(CELSR3):c.8434C>T (p.Leu2812Phe) | not specified [RCV004156050] | uncertain significance | 3 | 48642857 | 48642857 | Human | | name |
| 156089331 | CV2295582 | single nucleotide variant | NM_001407.3(CELSR3):c.9382C>T (p.Arg3128Trp) | not specified [RCV004160672] | uncertain significance | 3 | 48640203 | 48640203 | Human | | name |
| 156287846 | CV2301281 | single nucleotide variant | NM_001407.3(CELSR3):c.7202C>G (p.Pro2401Arg) | not specified [RCV004160459] | uncertain significance | 3 | 48646856 | 48646856 | Human | | name |
| 156040671 | CV2310823 | single nucleotide variant | NM_001407.3(CELSR3):c.8837A>G (p.Asn2946Ser) | not specified [RCV004163871] | uncertain significance | 3 | 48641512 | 48641512 | Human | | name |
| 156244494 | CV2313131 | single nucleotide variant | NM_001407.3(CELSR3):c.9040C>T (p.Arg3014Trp) | not specified [RCV004161395] | uncertain significance | 3 | 48640545 | 48640545 | Human | | name |
| 156068835 | CV2320502 | single nucleotide variant | NM_001407.3(CELSR3):c.7691T>C (p.Leu2564Pro) | not specified [RCV004172135] | uncertain significance | 3 | 48645549 | 48645549 | Human | | name |
| 156291635 | CV2321136 | single nucleotide variant | NM_001407.3(CELSR3):c.7513A>G (p.Arg2505Gly) | not specified [RCV004175267] | uncertain significance | 3 | 48645819 | 48645819 | Human | | name |
| 156062765 | CV2323265 | single nucleotide variant | NM_001407.3(CELSR3):c.6647C>T (p.Thr2216Ile) | not specified [RCV004187650] | uncertain significance | 3 | 48648849 | 48648849 | Human | | name |
| 156395636 | CV2329299 | single nucleotide variant | NM_001407.3(CELSR3):c.3547C>T (p.Arg1183Cys) | not specified [RCV004174034] | uncertain significance | 3 | 48659088 | 48659088 | Human | | name |
| 155918520 | CV2333019 | single nucleotide variant | NM_001407.3(CELSR3):c.9193C>T (p.Arg3065Cys) | not provided [RCV005242346]|not specified [RCV004194318] | likely benign|uncertain significance | 3 | 48640392 | 48640392 | Human | | name |
| 156184477 | CV2335606 | single nucleotide variant | NM_001407.3(CELSR3):c.4735T>G (p.Ser1579Ala) | not specified [RCV004193811] | uncertain significance | 3 | 48655742 | 48655742 | Human | | name |
| 155922446 | CV2340620 | single nucleotide variant | NM_001407.3(CELSR3):c.5213C>T (p.Ser1738Leu) | not specified [RCV004190300] | likely benign | 3 | 48653943 | 48653943 | Human | | name |
| 155920226 | CV2343312 | single nucleotide variant | NM_001407.3(CELSR3):c.3767C>T (p.Thr1256Met) | not specified [RCV004194930] | uncertain significance | 3 | 48657330 | 48657330 | Human | | name |
| 155923067 | CV2347435 | single nucleotide variant | NM_001407.3(CELSR3):c.9482G>A (p.Arg3161His) | not specified [RCV004207268] | uncertain significance | 3 | 48640103 | 48640103 | Human | | name |
| 156278908 | CV2348281 | single nucleotide variant | NM_001407.3(CELSR3):c.7915C>T (p.Arg2639Cys) | not specified [RCV004191317] | uncertain significance | 3 | 48645092 | 48645092 | Human | | name |
| 156241036 | CV2350388 | single nucleotide variant | NM_001407.3(CELSR3):c.7921G>A (p.Ala2641Thr) | not specified [RCV004202332] | uncertain significance | 3 | 48645086 | 48645086 | Human | | name |
| 156274698 | CV2351740 | single nucleotide variant | NM_001407.3(CELSR3):c.5990G>A (p.Arg1997Gln) | not specified [RCV004197899] | uncertain significance | 3 | 48651652 | 48651652 | Human | | name |
| 156122783 | CV2354358 | single nucleotide variant | NM_001407.3(CELSR3):c.4198G>T (p.Ala1400Ser) | not specified [RCV004199895] | uncertain significance | 3 | 48656899 | 48656899 | Human | | name |
| 156223515 | CV2355583 | single nucleotide variant | NM_001407.3(CELSR3):c.8756C>T (p.Thr2919Met) | not specified [RCV004205428] | uncertain significance | 3 | 48641919 | 48641919 | Human | | name |
| 156196820 | CV2357489 | single nucleotide variant | NM_001407.3(CELSR3):c.5354T>C (p.Val1785Ala) | not specified [RCV004202774] | uncertain significance | 3 | 48653713 | 48653713 | Human | | name |
| 156384510 | CV2371467 | single nucleotide variant | NM_001407.3(CELSR3):c.8594A>G (p.His2865Arg) | not specified [RCV004216725] | uncertain significance | 3 | 48642429 | 48642429 | Human | | name |
| 156062839 | CV2380417 | single nucleotide variant | NM_001407.3(CELSR3):c.4177G>C (p.Val1393Leu) | not specified [RCV004218020] | uncertain significance | 3 | 48656920 | 48656920 | Human | | name |
| 156389767 | CV2380812 | single nucleotide variant | NM_001407.3(CELSR3):c.9629G>A (p.Arg3210Gln) | not specified [RCV004218372] | uncertain significance | 3 | 48639956 | 48639956 | Human | | name |
| 156391654 | CV2382476 | single nucleotide variant | NM_001407.3(CELSR3):c.6773A>G (p.Asn2258Ser) | not specified [RCV004230809] | uncertain significance | 3 | 48648723 | 48648723 | Human | | name |
| 156002129 | CV2387519 | single nucleotide variant | NM_001407.3(CELSR3):c.6082C>T (p.Pro2028Ser) | not specified [RCV004240371] | uncertain significance | 3 | 48651463 | 48651463 | Human | | name |
| 156258835 | CV2395424 | single nucleotide variant | NM_001407.3(CELSR3):c.7715G>A (p.Arg2572His) | not specified [RCV004241297] | uncertain significance | 3 | 48645525 | 48645525 | Human | | name |
| 155995881 | CV2398472 | single nucleotide variant | NM_001407.3(CELSR3):c.6695G>A (p.Arg2232His) | not specified [RCV004237795] | uncertain significance | 3 | 48648801 | 48648801 | Human | | name |
| 329386469 | CV2428324 | single nucleotide variant | NM_001407.3(CELSR3):c.3917C>T (p.Pro1306Leu) | not specified [RCV004251346] | uncertain significance | 3 | 48657180 | 48657180 | Human | | name |
| 329386472 | CV2428325 | single nucleotide variant | NM_001407.3(CELSR3):c.9070C>G (p.Arg3024Gly) | not specified [RCV004251347] | uncertain significance | 3 | 48640515 | 48640515 | Human | | name |
| 329370345 | CV2435553 | single nucleotide variant | NM_001407.3(CELSR3):c.9125T>C (p.Val3042Ala) | not specified [RCV004254810] | uncertain significance | 3 | 48640460 | 48640460 | Human | | name |
| 329376969 | CV2435761 | single nucleotide variant | NM_001407.3(CELSR3):c.3034A>G (p.Ile1012Val) | not specified [RCV004253389] | uncertain significance | 3 | 48659601 | 48659601 | Human | | name |
| 329367304 | CV2438805 | single nucleotide variant | NM_001407.3(CELSR3):c.8365A>G (p.Arg2789Gly) | not specified [RCV004264345] | uncertain significance | 3 | 48643008 | 48643008 | Human | | name |
| 329402241 | CV2454083 | single nucleotide variant | NM_001407.3(CELSR3):c.9193C>A (p.Arg3065Ser) | not specified [RCV004265590] | uncertain significance | 3 | 48640392 | 48640392 | Human | | name |
| 329367626 | CV2456957 | single nucleotide variant | NM_001407.3(CELSR3):c.8940G>T (p.Lys2980Asn) | not specified [RCV004270898] | uncertain significance | 3 | 48641409 | 48641409 | Human | | name |
| 329360295 | CV2458574 | single nucleotide variant | NM_001407.3(CELSR3):c.8145G>T (p.Glu2715Asp) | not specified [RCV004268258] | uncertain significance | 3 | 48644236 | 48644236 | Human | | name |
| 329362393 | CV2463886 | single nucleotide variant | NM_001407.3(CELSR3):c.5108G>A (p.Arg1703Gln) | not specified [RCV004279959] | uncertain significance | 3 | 48654333 | 48654333 | Human | | name |
| 329362538 | CV2463982 | single nucleotide variant | NM_001407.3(CELSR3):c.8461A>G (p.Ile2821Val) | not specified [RCV004273698] | uncertain significance | 3 | 48642830 | 48642830 | Human | | name |
| 401736147 | CV2672835 | single nucleotide variant | NM_001407.3(CELSR3):c.6460C>T (p.Arg2154Trp) | not specified [RCV004281611] | uncertain significance | 3 | 48650492 | 48650492 | Human | | name |
| 401767698 | CV2681747 | single nucleotide variant | NM_001407.3(CELSR3):c.9481C>T (p.Arg3161Cys) | not specified [RCV004294288] | likely benign | 3 | 48640104 | 48640104 | Human | | name |
| 401740369 | CV2684341 | single nucleotide variant | NM_001407.3(CELSR3):c.3126A>T (p.Arg1042Ser) | not specified [RCV004288990] | uncertain significance | 3 | 48659509 | 48659509 | Human | | name |
| 401727368 | CV2684609 | single nucleotide variant | NM_001407.3(CELSR3):c.6997C>T (p.His2333Tyr) | not specified [RCV004293713] | uncertain significance | 3 | 48647973 | 48647973 | Human | | name |
| 401743296 | CV2684668 | single nucleotide variant | NM_001407.3(CELSR3):c.9194G>A (p.Arg3065His) | not specified [RCV004293764] | uncertain significance | 3 | 48640391 | 48640391 | Human | | name |
| 401733451 | CV2691305 | single nucleotide variant | NM_001407.3(CELSR3):c.7108C>T (p.Pro2370Ser) | not specified [RCV004303060] | uncertain significance | 3 | 48647862 | 48647862 | Human | | name |
| 401746511 | CV2694872 | single nucleotide variant | NM_001407.3(CELSR3):c.4007G>A (p.Arg1336His) | not specified [RCV004300943] | uncertain significance | 3 | 48657090 | 48657090 | Human | | name |
| 401746929 | CV2698739 | single nucleotide variant | NM_001407.3(CELSR3):c.7630C>T (p.His2544Tyr) | not specified [RCV004301194] | uncertain significance | 3 | 48645610 | 48645610 | Human | | name |
| 401758869 | CV2705206 | single nucleotide variant | NM_001407.3(CELSR3):c.6436G>A (p.Val2146Ile) | not specified [RCV004311911] | likely benign | 3 | 48650516 | 48650516 | Human | | name |
| 401778846 | CV2705769 | single nucleotide variant | NM_001407.3(CELSR3):c.9097C>T (p.Arg3033Cys) | not specified [RCV004318605] | uncertain significance | 3 | 48640488 | 48640488 | Human | | name |
| 401770544 | CV2707274 | single nucleotide variant | NM_001407.3(CELSR3):c.9868T>C (p.Ser3290Pro) | not specified [RCV004312680] | uncertain significance | 3 | 48639717 | 48639717 | Human | | name |
| 401782945 | CV2707624 | single nucleotide variant | NM_001407.3(CELSR3):c.9692T>C (p.Val3231Ala) | not specified [RCV004306564] | likely benign | 3 | 48639893 | 48639893 | Human | | name |
| 401754761 | CV2716036 | single nucleotide variant | NM_001407.3(CELSR3):c.7480G>T (p.Val2494Leu) | not specified [RCV004323291] | uncertain significance | 3 | 48645852 | 48645852 | Human | | name |
| 401762791 | CV2720075 | single nucleotide variant | NM_001407.3(CELSR3):c.4264C>T (p.Arg1422Cys) | not specified [RCV004323646] | uncertain significance | 3 | 48656833 | 48656833 | Human | | name |
| 401769585 | CV2731438 | single nucleotide variant | NM_001407.3(CELSR3):c.6295C>T (p.Arg2099Cys) | not provided [RCV003436017]|not specified [RCV004330796] | likely benign|uncertain significance | 3 | 48650967 | 48650967 | Human | | name |
| 401872967 | CV2761318 | single nucleotide variant | NM_001407.3(CELSR3):c.4108G>A (p.Asp1370Asn) | not specified [RCV004341185] | uncertain significance | 3 | 48656989 | 48656989 | Human | | name |
| 401895695 | CV2771483 | single nucleotide variant | NM_001407.3(CELSR3):c.8573G>T (p.Arg2858Leu) | not specified [RCV004348524] | uncertain significance | 3 | 48642450 | 48642450 | Human | | name |
| 401870328 | CV2772706 | single nucleotide variant | NM_001407.3(CELSR3):c.8903G>C (p.Trp2968Ser) | not specified [RCV004357223] | uncertain significance | 3 | 48641446 | 48641446 | Human | | name |
| 401935009 | CV2798110 | single nucleotide variant | NM_001407.3(CELSR3):c.4505G>A (p.Cys1502Tyr) | CELSR3-related disorder [RCV003412425] | uncertain significance | 3 | 48656260 | 48656260 | Human | | name , trait , alternate_id |
| 401922238 | CV2827386 | single nucleotide variant | NM_001407.3(CELSR3):c.9230G>A (p.Arg3077Gln) | not provided [RCV003433574] | benign | 3 | 48640355 | 48640355 | Human | | name |
| 401926403 | CV2827387 | single nucleotide variant | NM_001407.3(CELSR3):c.8753G>A (p.Arg2918Gln) | not provided [RCV003437829] | uncertain significance | 3 | 48641922 | 48641922 | Human | | name |
| 401922239 | CV2827388 | single nucleotide variant | NM_001407.3(CELSR3):c.7312G>A (p.Val2438Ile) | not provided [RCV003433575] | benign | 3 | 48646241 | 48646241 | Human | | name |
| 401922240 | CV2827389 | single nucleotide variant | NM_001407.3(CELSR3):c.7034G>A (p.Arg2345His) | not provided [RCV003433576]|not specified [RCV005310982] | uncertain significance | 3 | 48647936 | 48647936 | Human | | name |
| 401922241 | CV2827390 | single nucleotide variant | NM_001407.3(CELSR3):c.4870A>G (p.Lys1624Glu) | not provided [RCV003433577] | benign | 3 | 48655162 | 48655162 | Human | | name |
| 401926404 | CV2827391 | single nucleotide variant | NM_001407.3(CELSR3):c.3571A>G (p.Ile1191Val) | not provided [RCV003437830] | uncertain significance | 3 | 48659064 | 48659064 | Human | | name |
| 401922242 | CV2827392 | single nucleotide variant | NM_001407.3(CELSR3):c.3473G>T (p.Arg1158Leu) | not provided [RCV003433578] | benign | 3 | 48659162 | 48659162 | Human | | name |
| 401945711 | CV2839588 | single nucleotide variant | NM_001407.3(CELSR3):c.7999G>A (p.Gly2667Ser) | See cases [RCV003458264] | likely pathogenic | 3 | 48644802 | 48644802 | Human | | name |
| 401945744 | CV2839589 | single nucleotide variant | NM_001407.3(CELSR3):c.6959T>C (p.Val2320Ala) | See cases [RCV003458265] | likely pathogenic | 3 | 48648280 | 48648280 | Human | | name |
| 401945714 | CV2839590 | single nucleotide variant | NM_001407.3(CELSR3):c.4034C>T (p.Pro1345Leu) | See cases [RCV003458266] | likely benign | 3 | 48657063 | 48657063 | Human | | name |
| 401945716 | CV2839591 | single nucleotide variant | NM_001407.3(CELSR3):c.3712C>T (p.Arg1238Cys) | See cases [RCV003458267] | likely pathogenic | 3 | 48658923 | 48658923 | Human | | name |
| 401945718 | CV2839592 | single nucleotide variant | NM_001407.3(CELSR3):c.7501G>A (p.Glu2501Lys) | See cases [RCV003458268] | likely pathogenic | 3 | 48645831 | 48645831 | Human | | name |
| 401944575 | CV2839593 | single nucleotide variant | NM_001407.3(CELSR3):c.3142C>T (p.Arg1048Trp) | Congenital anomalies of kidney and urinary tract 1 [RCV003457219] | likely pathogenic | 3 | 48659493 | 48659493 | Human | 1 | name |
| 401944576 | CV2839594 | single nucleotide variant | NM_001407.3(CELSR3):c.3100G>C (p.Glu1034Gln) | Congenital anomalies of kidney and urinary tract 1 [RCV003457220] | likely pathogenic | 3 | 48659535 | 48659535 | Human | 1 | name |
| 401945720 | CV2839595 | single nucleotide variant | NM_001407.3(CELSR3):c.9299G>C (p.Gly3100Ala) | See cases [RCV003458269] | likely pathogenic | 3 | 48640286 | 48640286 | Human | | name |
| 401945722 | CV2839596 | single nucleotide variant | NM_001407.3(CELSR3):c.7423C>T (p.Arg2475Trp) | See cases [RCV003458270] | likely pathogenic | 3 | 48646130 | 48646130 | Human | | name |
| 401945725 | CV2839597 | single nucleotide variant | NM_001407.3(CELSR3):c.8758C>T (p.Arg2920Trp) | See cases [RCV003458271] | likely benign | 3 | 48641917 | 48641917 | Human | | name |
| 401945727 | CV2839598 | single nucleotide variant | NM_001407.3(CELSR3):c.6304G>A (p.Ala2102Thr) | See cases [RCV003458272] | likely pathogenic | 3 | 48650958 | 48650958 | Human | | name |
| 401945730 | CV2839599 | single nucleotide variant | NM_001407.3(CELSR3):c.5059C>T (p.His1687Tyr) | See cases [RCV003458273] | likely pathogenic | 3 | 48654382 | 48654382 | Human | | name |
| 401945731 | CV2839600 | single nucleotide variant | NM_001407.3(CELSR3):c.7075C>T (p.Pro2359Ser) | See cases [RCV003458274] | likely pathogenic | 3 | 48647895 | 48647895 | Human | | name |
| 401945735 | CV2839602 | single nucleotide variant | NM_001407.3(CELSR3):c.8480C>A (p.Thr2827Asn) | See cases [RCV003458276] | likely pathogenic | 3 | 48642811 | 48642811 | Human | | name |
| 404989266 | CV2849800 | single nucleotide variant | NM_001407.3(CELSR3):c.5393C>T (p.Thr1798Met) | not provided [RCV003490552] | uncertain significance | 3 | 48653674 | 48653674 | Human | | name |
| 405286399 | CV3192752 | single nucleotide variant | NM_001407.3(CELSR3):c.9449G>A (p.Arg3150Gln) | CELSR3-related disorder [RCV003981499] | likely benign | 3 | 48640136 | 48640136 | Human | | name , trait , alternate_id |
| 405267676 | CV3198433 | single nucleotide variant | NM_001407.3(CELSR3):c.8375C>T (p.Ala2792Val) | CELSR3-related disorder [RCV003911802] | likely benign | 3 | 48642998 | 48642998 | Human | | name , trait , alternate_id |
| 405267399 | CV3205487 | single nucleotide variant | NM_001407.3(CELSR3):c.9478C>T (p.Arg3160Cys) | CELSR3-related disorder [RCV003947365] | likely benign | 3 | 48640107 | 48640107 | Human | | name , trait , alternate_id |
| 405258111 | CV3208140 | single nucleotide variant | NM_001407.3(CELSR3):c.9566G>A (p.Arg3189Gln) | Bladder exstrophy-epispadias-cloacal extrophy complex [RCV004556103]|CELSR3-related disorder [RCV003941584] | benign|likely benign | 3 | 48640019 | 48640019 | Human | 1 | name , trait , alternate_id |
| 405285559 | CV3212602 | single nucleotide variant | NM_001407.3(CELSR3):c.8969C>G (p.Pro2990Arg) | CELSR3-related disorder [RCV003959167] | benign | 3 | 48641380 | 48641380 | Human | | name , trait , alternate_id |
| 405293125 | CV3221230 | single nucleotide variant | NM_001407.3(CELSR3):c.9397G>A (p.Ala3133Thr) | CELSR3-related disorder [RCV003966765] | likely benign | 3 | 48640188 | 48640188 | Human | | name , trait , alternate_id |
| 405760146 | CV3303976 | single nucleotide variant | NM_001407.3(CELSR3):c.3421G>C (p.Val1141Leu) | not specified [RCV004433491] | uncertain significance | 3 | 48659214 | 48659214 | Human | | name |
| 405760151 | CV3303977 | single nucleotide variant | NM_001407.3(CELSR3):c.4015G>A (p.Gly1339Arg) | not specified [RCV004433492] | uncertain significance | 3 | 48657082 | 48657082 | Human | | name |
| 405760157 | CV3303978 | single nucleotide variant | NM_001407.3(CELSR3):c.4141C>G (p.Arg1381Gly) | not specified [RCV004433493] | uncertain significance | 3 | 48656956 | 48656956 | Human | | name |
| 405760162 | CV3303979 | single nucleotide variant | NM_001407.3(CELSR3):c.4432C>A (p.Arg1478Ser) | not specified [RCV004433494] | uncertain significance | 3 | 48656333 | 48656333 | Human | | name |
| 405760168 | CV3303980 | single nucleotide variant | NM_001407.3(CELSR3):c.4466C>A (p.Thr1489Asn) | not specified [RCV004433495] | uncertain significance | 3 | 48656299 | 48656299 | Human | | name |
| 405760174 | CV3303981 | single nucleotide variant | NM_001407.3(CELSR3):c.4542G>C (p.Glu1514Asp) | not specified [RCV004433496] | uncertain significance | 3 | 48656223 | 48656223 | Human | | name |
| 405760177 | CV3303982 | single nucleotide variant | NM_001407.3(CELSR3):c.5456G>A (p.Arg1819Gln) | not specified [RCV004433497] | uncertain significance | 3 | 48653180 | 48653180 | Human | | name |
| 405760182 | CV3303983 | single nucleotide variant | NM_001407.3(CELSR3):c.5504A>G (p.His1835Arg) | not specified [RCV004433498] | uncertain significance | 3 | 48653132 | 48653132 | Human | | name |
| 405760195 | CV3303985 | single nucleotide variant | NM_001407.3(CELSR3):c.5540G>A (p.Arg1847Gln) | not specified [RCV004433500] | uncertain significance | 3 | 48653096 | 48653096 | Human | | name |
| 405760201 | CV3303986 | single nucleotide variant | NM_001407.3(CELSR3):c.5588G>T (p.Arg1863Leu) | not specified [RCV004433501] | uncertain significance | 3 | 48653048 | 48653048 | Human | | name |
| 405760205 | CV3303987 | single nucleotide variant | NM_001407.3(CELSR3):c.5707G>A (p.Gly1903Ser) | not specified [RCV004433502] | likely benign | 3 | 48652481 | 48652481 | Human | | name |
| 405760210 | CV3303988 | single nucleotide variant | NM_001407.3(CELSR3):c.5755G>T (p.Val1919Leu) | not specified [RCV004433503] | uncertain significance | 3 | 48652045 | 48652045 | Human | | name |
| 405760216 | CV3303989 | single nucleotide variant | NM_001407.3(CELSR3):c.5819C>T (p.Ala1940Val) | not specified [RCV004433504] | likely benign | 3 | 48651981 | 48651981 | Human | | name |
| 405760226 | CV3303991 | single nucleotide variant | NM_001407.3(CELSR3):c.5875G>A (p.Ala1959Thr) | Bladder exstrophy-epispadias-cloacal extrophy complex [RCV004556106]|not specified [RCV004433506] | likely benign|uncertain significance | 3 | 48651925 | 48651925 | Human | 1 | name |
| 405760233 | CV3303992 | single nucleotide variant | NM_001407.3(CELSR3):c.5885G>A (p.Arg1962Gln) | not specified [RCV004433507] | uncertain significance | 3 | 48651915 | 48651915 | Human | | name |
| 405760239 | CV3303993 | single nucleotide variant | NM_001407.3(CELSR3):c.6035G>A (p.Gly2012Asp) | not specified [RCV004433508] | uncertain significance | 3 | 48651607 | 48651607 | Human | | name |
| 405760724 | CV3303994 | single nucleotide variant | NM_001407.3(CELSR3):c.6314G>A (p.Arg2105His) | not specified [RCV004433509] | uncertain significance | 3 | 48650948 | 48650948 | Human | | name |
| 405760250 | CV3303995 | single nucleotide variant | NM_001407.3(CELSR3):c.6958G>A (p.Val2320Met) | not specified [RCV004433510] | uncertain significance | 3 | 48648281 | 48648281 | Human | | name |
| 405760258 | CV3303996 | single nucleotide variant | NM_001407.3(CELSR3):c.7007C>T (p.Ser2336Phe) | not specified [RCV004433511] | uncertain significance | 3 | 48647963 | 48647963 | Human | | name |
| 405760264 | CV3303997 | single nucleotide variant | NM_001407.3(CELSR3):c.7012C>T (p.Arg2338Trp) | not specified [RCV004433512] | uncertain significance | 3 | 48647958 | 48647958 | Human | | name |
| 405760271 | CV3303998 | single nucleotide variant | NM_001407.3(CELSR3):c.7097C>T (p.Pro2366Leu) | not specified [RCV004433513] | uncertain significance | 3 | 48647873 | 48647873 | Human | | name |
| 405760276 | CV3303999 | single nucleotide variant | NM_001407.3(CELSR3):c.7493G>A (p.Arg2498Gln) | not specified [RCV004433514] | uncertain significance | 3 | 48645839 | 48645839 | Human | | name |
| 405760282 | CV3304000 | single nucleotide variant | NM_001407.3(CELSR3):c.7669A>T (p.Thr2557Ser) | not specified [RCV004433515] | uncertain significance | 3 | 48645571 | 48645571 | Human | | name |
| 405760291 | CV3304002 | single nucleotide variant | NM_001407.3(CELSR3):c.7801G>A (p.Val2601Met) | not specified [RCV004433517] | uncertain significance | 3 | 48645206 | 48645206 | Human | | name |
| 405760298 | CV3304003 | single nucleotide variant | NM_001407.3(CELSR3):c.7885C>T (p.Arg2629Cys) | not specified [RCV004433518] | uncertain significance | 3 | 48645122 | 48645122 | Human | | name |
| 405760302 | CV3304004 | single nucleotide variant | NM_001407.3(CELSR3):c.7904G>A (p.Arg2635His) | not specified [RCV004433519] | uncertain significance | 3 | 48645103 | 48645103 | Human | | name |
| 405760312 | CV3304006 | single nucleotide variant | NM_001407.3(CELSR3):c.8542C>T (p.Arg2848Cys) | not specified [RCV004433521] | uncertain significance | 3 | 48642749 | 48642749 | Human | | name |
| 405760318 | CV3304007 | single nucleotide variant | NM_001407.3(CELSR3):c.8752C>T (p.Arg2918Trp) | not specified [RCV004433522] | uncertain significance | 3 | 48641923 | 48641923 | Human | | name |
| 405760329 | CV3304009 | single nucleotide variant | NM_001407.3(CELSR3):c.9145C>T (p.Arg3049Cys) | not specified [RCV004433524] | uncertain significance | 3 | 48640440 | 48640440 | Human | | name |
| 405760334 | CV3304010 | single nucleotide variant | NM_001407.3(CELSR3):c.9262G>A (p.Ala3088Thr) | not specified [RCV004433525] | uncertain significance | 3 | 48640323 | 48640323 | Human | | name |
| 405760339 | CV3304011 | single nucleotide variant | NM_001407.3(CELSR3):c.9401T>A (p.Met3134Lys) | not specified [RCV004433526] | uncertain significance | 3 | 48640184 | 48640184 | Human | | name |
| 405760345 | CV3304012 | single nucleotide variant | NM_001407.3(CELSR3):c.9488G>A (p.Arg3163Gln) | not specified [RCV004433527] | uncertain significance | 3 | 48640097 | 48640097 | Human | | name |
| 405760350 | CV3304013 | single nucleotide variant | NM_001407.3(CELSR3):c.9634C>A (p.Pro3212Thr) | not specified [RCV004433528] | uncertain significance | 3 | 48639951 | 48639951 | Human | | name |
| 405760357 | CV3304014 | single nucleotide variant | NM_001407.3(CELSR3):c.9724C>G (p.Gln3242Glu) | not specified [RCV004433529] | uncertain significance | 3 | 48639861 | 48639861 | Human | | name |
| 407461362 | CV3418883 | single nucleotide variant | NM_001407.3(CELSR3):c.6836C>T (p.Ala2279Val) | not specified [RCV004612584] | uncertain significance | 3 | 48648403 | 48648403 | Human | | name |
| 407461366 | CV3418884 | single nucleotide variant | NM_001407.3(CELSR3):c.3224G>A (p.Arg1075Gln) | not specified [RCV004612585] | uncertain significance | 3 | 48659411 | 48659411 | Human | | name |
| 407461370 | CV3418885 | single nucleotide variant | NM_001407.3(CELSR3):c.6433G>T (p.Gly2145Cys) | not specified [RCV004612586] | uncertain significance | 3 | 48650519 | 48650519 | Human | | name |
| 407461374 | CV3418886 | single nucleotide variant | NM_001407.3(CELSR3):c.9041G>A (p.Arg3014Gln) | not specified [RCV004612587] | uncertain significance | 3 | 48640544 | 48640544 | Human | | name |
| 407461389 | CV3418890 | single nucleotide variant | NM_001407.3(CELSR3):c.4346C>T (p.Ala1449Val) | not specified [RCV004612591] | uncertain significance | 3 | 48656751 | 48656751 | Human | | name |
| 407461392 | CV3418891 | single nucleotide variant | NM_001407.3(CELSR3):c.5810G>A (p.Arg1937Gln) | not specified [RCV004612592] | likely benign | 3 | 48651990 | 48651990 | Human | | name |
| 407461397 | CV3418892 | single nucleotide variant | NM_001407.3(CELSR3):c.6875C>T (p.Ala2292Val) | not specified [RCV004612593] | uncertain significance | 3 | 48648364 | 48648364 | Human | | name |
| 407461401 | CV3418893 | single nucleotide variant | NM_001407.3(CELSR3):c.4757T>C (p.Val1586Ala) | not specified [RCV004612594] | uncertain significance | 3 | 48655379 | 48655379 | Human | | name |
| 407461409 | CV3418895 | single nucleotide variant | NM_001407.3(CELSR3):c.8270C>T (p.Ala2757Val) | not specified [RCV004612596] | uncertain significance | 3 | 48643573 | 48643573 | Human | | name |
| 407461413 | CV3418896 | single nucleotide variant | NM_001407.3(CELSR3):c.9245G>A (p.Arg3082His) | not specified [RCV004612597] | uncertain significance | 3 | 48640340 | 48640340 | Human | | name |
| 407461417 | CV3418897 | single nucleotide variant | NM_001407.3(CELSR3):c.9647C>A (p.Ala3216Asp) | not specified [RCV004612598] | uncertain significance | 3 | 48639938 | 48639938 | Human | | name |
| 407461425 | CV3418899 | single nucleotide variant | NM_001407.3(CELSR3):c.8569G>C (p.Val2857Leu) | not specified [RCV004612600] | uncertain significance | 3 | 48642454 | 48642454 | Human | | name |
| 407461430 | CV3418901 | single nucleotide variant | NM_001407.3(CELSR3):c.3205G>C (p.Ala1069Pro) | not specified [RCV004612602] | uncertain significance | 3 | 48659430 | 48659430 | Human | | name |
| 408385102 | CV3505672 | single nucleotide variant | NM_001407.3(CELSR3):c.9443C>A (p.Ala3148Glu) | CELSR3-related disorder [RCV004732392] | uncertain significance | 3 | 48640142 | 48640142 | Human | | name , trait , alternate_id |
| 596945836 | CV3548087 | single nucleotide variant | NM_001407.3(CELSR3):c.7355G>A (p.Arg2452His) | not provided [RCV004809418] | likely benign | 3 | 48646198 | 48646198 | Human | | name |
| 597768964 | CV3645260 | single nucleotide variant | NM_001407.3(CELSR3):c.6875C>A (p.Ala2292Glu) | not specified [RCV004896624] | uncertain significance | 3 | 48648364 | 48648364 | Human | | name |
| 597768969 | CV3645262 | single nucleotide variant | NM_001407.3(CELSR3):c.4319A>G (p.Tyr1440Cys) | not specified [RCV004896625] | uncertain significance | 3 | 48656778 | 48656778 | Human | | name |
| 597768977 | CV3645263 | single nucleotide variant | NM_001407.3(CELSR3):c.9547G>T (p.Asp3183Tyr) | not specified [RCV004896626] | uncertain significance | 3 | 48640038 | 48640038 | Human | | name |
| 597768982 | CV3645264 | single nucleotide variant | NM_001407.3(CELSR3):c.8743G>C (p.Asp2915His) | not specified [RCV004896627] | uncertain significance | 3 | 48641932 | 48641932 | Human | | name |
| 597768987 | CV3645265 | single nucleotide variant | NM_001407.3(CELSR3):c.6548T>C (p.Phe2183Ser) | not specified [RCV004896628] | uncertain significance | 3 | 48649140 | 48649140 | Human | | name |
| 597768997 | CV3645267 | single nucleotide variant | NM_001407.3(CELSR3):c.8735A>G (p.Glu2912Gly) | not specified [RCV004896630] | uncertain significance | 3 | 48641940 | 48641940 | Human | | name |
| 597769002 | CV3645268 | single nucleotide variant | NM_001407.3(CELSR3):c.7861T>C (p.Phe2621Leu) | not specified [RCV004896631] | likely benign | 3 | 48645146 | 48645146 | Human | | name |
| 597769017 | CV3645272 | single nucleotide variant | NM_001407.3(CELSR3):c.8740G>A (p.Glu2914Lys) | not specified [RCV004896634] | uncertain significance | 3 | 48641935 | 48641935 | Human | | name |
| 597769024 | CV3645273 | single nucleotide variant | NM_001407.3(CELSR3):c.9244C>T (p.Arg3082Cys) | not specified [RCV004896635] | uncertain significance | 3 | 48640341 | 48640341 | Human | | name |
| 597769029 | CV3645274 | single nucleotide variant | NM_001407.3(CELSR3):c.5585G>A (p.Arg1862Gln) | not specified [RCV004896636] | uncertain significance | 3 | 48653051 | 48653051 | Human | | name |
| 597769034 | CV3645275 | single nucleotide variant | NM_001407.3(CELSR3):c.9118C>T (p.Arg3040Cys) | not specified [RCV004896637] | uncertain significance | 3 | 48640467 | 48640467 | Human | | name |
| 597769039 | CV3645276 | single nucleotide variant | NM_001407.3(CELSR3):c.3002A>G (p.Gln1001Arg) | not specified [RCV004896638] | uncertain significance | 3 | 48659633 | 48659633 | Human | | name |
| 597769044 | CV3645277 | single nucleotide variant | NM_001407.3(CELSR3):c.4915G>C (p.Val1639Leu) | not specified [RCV004896639] | uncertain significance | 3 | 48655117 | 48655117 | Human | | name |
| 597769054 | CV3645280 | single nucleotide variant | NM_001407.3(CELSR3):c.6257C>T (p.Ser2086Leu) | not specified [RCV004896641] | uncertain significance | 3 | 48651005 | 48651005 | Human | | name |
| 597769059 | CV3645281 | single nucleotide variant | NM_001407.3(CELSR3):c.7480G>A (p.Val2494Met) | not specified [RCV004896642] | likely benign | 3 | 48645852 | 48645852 | Human | | name |
| 597769064 | CV3645282 | single nucleotide variant | NM_001407.3(CELSR3):c.9487C>T (p.Arg3163Trp) | not specified [RCV004896643] | uncertain significance | 3 | 48640098 | 48640098 | Human | | name |
| 597769069 | CV3645283 | single nucleotide variant | NM_001407.3(CELSR3):c.8573G>A (p.Arg2858Gln) | not specified [RCV004896644] | uncertain significance | 3 | 48642450 | 48642450 | Human | | name |
| 597769073 | CV3645284 | single nucleotide variant | NM_001407.3(CELSR3):c.7403G>A (p.Arg2468His) | not specified [RCV004896645] | uncertain significance | 3 | 48646150 | 48646150 | Human | | name |
| 597769081 | CV3645285 | single nucleotide variant | NM_001407.3(CELSR3):c.3404G>A (p.Arg1135His) | not specified [RCV004896646] | uncertain significance | 3 | 48659231 | 48659231 | Human | | name |
| 597769091 | CV3645287 | single nucleotide variant | NM_001407.3(CELSR3):c.6296G>A (p.Arg2099His) | not specified [RCV004896648] | uncertain significance | 3 | 48650966 | 48650966 | Human | | name |
| 597769096 | CV3645288 | single nucleotide variant | NM_001407.3(CELSR3):c.7538G>A (p.Arg2513His) | not specified [RCV004896649] | uncertain significance | 3 | 48645794 | 48645794 | Human | | name |
| 597769101 | CV3645290 | single nucleotide variant | NM_001407.3(CELSR3):c.3968G>A (p.Gly1323Asp) | not specified [RCV004896650] | uncertain significance | 3 | 48657129 | 48657129 | Human | | name |
| 597769106 | CV3645291 | single nucleotide variant | NM_001407.3(CELSR3):c.7609G>A (p.Glu2537Lys) | not specified [RCV004896651] | uncertain significance | 3 | 48645631 | 48645631 | Human | | name |
| 597769114 | CV3645292 | single nucleotide variant | NM_001407.3(CELSR3):c.6148C>G (p.Pro2050Ala) | not specified [RCV004896652] | uncertain significance | 3 | 48651397 | 48651397 | Human | | name |
| 597769119 | CV3645293 | single nucleotide variant | NM_001407.3(CELSR3):c.8243G>A (p.Ser2748Asn) | not specified [RCV004896653] | uncertain significance | 3 | 48643600 | 48643600 | Human | | name |
| 597769124 | CV3645294 | single nucleotide variant | NM_001407.3(CELSR3):c.3220G>T (p.Val1074Leu) | not specified [RCV004896654] | uncertain significance | 3 | 48659415 | 48659415 | Human | | name |
| 597769134 | CV3645296 | single nucleotide variant | NM_001407.3(CELSR3):c.3296A>G (p.Asn1099Ser) | not specified [RCV004896656] | uncertain significance | 3 | 48659339 | 48659339 | Human | | name |
| 597769139 | CV3645297 | single nucleotide variant | NM_001407.3(CELSR3):c.7123T>A (p.Ser2375Thr) | not specified [RCV004896657] | uncertain significance | 3 | 48647847 | 48647847 | Human | | name |
| 597778898 | CV3645299 | single nucleotide variant | NM_001407.3(CELSR3):c.4492T>C (p.Phe1498Leu) | not specified [RCV004899139] | uncertain significance | 3 | 48656273 | 48656273 | Human | | name |
| 597778904 | CV3645302 | single nucleotide variant | NM_001407.3(CELSR3):c.4880T>C (p.Val1627Ala) | not specified [RCV004899141] | uncertain significance | 3 | 48655152 | 48655152 | Human | | name |
| 597778910 | CV3645303 | single nucleotide variant | NM_001407.3(CELSR3):c.4395C>A (p.Phe1465Leu) | not specified [RCV004899142] | uncertain significance | 3 | 48656702 | 48656702 | Human | | name |
| 597778918 | CV3645305 | single nucleotide variant | NM_001407.3(CELSR3):c.3538G>A (p.Val1180Ile) | not specified [RCV004899144] | uncertain significance | 3 | 48659097 | 48659097 | Human | | name |
| 597778923 | CV3645306 | single nucleotide variant | NM_001407.3(CELSR3):c.3071G>A (p.Arg1024Gln) | not specified [RCV004899145] | uncertain significance | 3 | 48659564 | 48659564 | Human | | name |
| 597778926 | CV3645307 | single nucleotide variant | NM_001407.3(CELSR3):c.7414A>G (p.Thr2472Ala) | not specified [RCV004899146] | uncertain significance | 3 | 48646139 | 48646139 | Human | | name |
| 597778933 | CV3645309 | single nucleotide variant | NM_001407.3(CELSR3):c.9410G>A (p.Arg3137His) | not specified [RCV004899148] | uncertain significance | 3 | 48640175 | 48640175 | Human | | name |
| 597778943 | CV3645312 | single nucleotide variant | NM_001407.3(CELSR3):c.6857G>C (p.Gly2286Ala) | not specified [RCV004899150] | uncertain significance | 3 | 48648382 | 48648382 | Human | | name |
| 598128252 | CV3887451 | single nucleotide variant | NM_001407.3(CELSR3):c.4711G>A (p.Ala1571Thr) | not provided [RCV005243624] | uncertain significance | 3 | 48655766 | 48655766 | Human | | name |
| 598241222 | CV3951275 | single nucleotide variant | NM_001407.3(CELSR3):c.8380G>A (p.Glu2794Lys) | not specified [RCV005321511] | uncertain significance | 3 | 48642993 | 48642993 | Human | | name |
| 598195149 | CV3951278 | single nucleotide variant | NM_001407.3(CELSR3):c.3403C>T (p.Arg1135Cys) | not specified [RCV005313282] | uncertain significance | 3 | 48659232 | 48659232 | Human | | name |
| 598195156 | CV3951279 | single nucleotide variant | NM_001407.3(CELSR3):c.5795T>C (p.Leu1932Pro) | not specified [RCV005313283] | uncertain significance | 3 | 48652005 | 48652005 | Human | | name |
| 598195161 | CV3951280 | single nucleotide variant | NM_001407.3(CELSR3):c.3319G>A (p.Val1107Met) | not specified [RCV005313284] | uncertain significance | 3 | 48659316 | 48659316 | Human | | name |
| 598195167 | CV3951281 | single nucleotide variant | NM_001407.3(CELSR3):c.5095A>G (p.Ile1699Val) | not specified [RCV005313285] | uncertain significance | 3 | 48654346 | 48654346 | Human | | name |
| 598195173 | CV3951282 | single nucleotide variant | NM_001407.3(CELSR3):c.4946A>G (p.Asn1649Ser) | not specified [RCV005313286] | uncertain significance | 3 | 48655086 | 48655086 | Human | | name |
| 598195180 | CV3951283 | single nucleotide variant | NM_001407.3(CELSR3):c.9856T>A (p.Ser3286Thr) | not specified [RCV005313287] | uncertain significance | 3 | 48639729 | 48639729 | Human | | name |
| 598195186 | CV3951284 | single nucleotide variant | NM_001407.3(CELSR3):c.3965G>C (p.Gly1322Ala) | not specified [RCV005313288] | uncertain significance | 3 | 48657132 | 48657132 | Human | | name |
| 598195207 | CV3951289 | single nucleotide variant | NM_001407.3(CELSR3):c.5495G>A (p.Arg1832His) | not specified [RCV005313292] | uncertain significance | 3 | 48653141 | 48653141 | Human | | name |
| 598195214 | CV3951290 | single nucleotide variant | NM_001407.3(CELSR3):c.9443C>T (p.Ala3148Val) | not specified [RCV005313293] | uncertain significance | 3 | 48640142 | 48640142 | Human | | name |
| 598195220 | CV3951291 | single nucleotide variant | NM_001407.3(CELSR3):c.7532G>A (p.Arg2511Gln) | not specified [RCV005313294] | uncertain significance | 3 | 48645800 | 48645800 | Human | | name |
| 598195243 | CV3951295 | single nucleotide variant | NM_001407.3(CELSR3):c.4001C>A (p.Ala1334Asp) | not specified [RCV005313298] | uncertain significance | 3 | 48657096 | 48657096 | Human | | name |
| 598241242 | CV3951297 | single nucleotide variant | NM_001407.3(CELSR3):c.7634T>G (p.Val2545Gly) | not specified [RCV005321514] | uncertain significance | 3 | 48645606 | 48645606 | Human | | name |
| 598241248 | CV3951299 | single nucleotide variant | NM_001407.3(CELSR3):c.9550C>A (p.Pro3184Thr) | not specified [RCV005321515] | uncertain significance | 3 | 48640035 | 48640035 | Human | | name |
| 598195268 | CV3951301 | single nucleotide variant | NM_001407.3(CELSR3):c.5071A>T (p.Ile1691Phe) | not specified [RCV005313302] | uncertain significance | 3 | 48654370 | 48654370 | Human | | name |
| 598195274 | CV3951302 | single nucleotide variant | NM_001407.3(CELSR3):c.4396A>C (p.Thr1466Pro) | not specified [RCV005313303] | uncertain significance | 3 | 48656701 | 48656701 | Human | | name |
| 598195280 | CV3951303 | single nucleotide variant | NM_001407.3(CELSR3):c.5960T>G (p.Leu1987Arg) | not specified [RCV005313304] | uncertain significance | 3 | 48651682 | 48651682 | Human | | name |
| 598195298 | CV3951306 | single nucleotide variant | NM_001407.3(CELSR3):c.8408G>C (p.Gly2803Ala) | not specified [RCV005313307] | uncertain significance | 3 | 48642883 | 48642883 | Human | | name |
| 598195311 | CV3951308 | single nucleotide variant | NM_001407.3(CELSR3):c.6263C>T (p.Ser2088Leu) | not specified [RCV005313309] | uncertain significance | 3 | 48650999 | 48650999 | Human | | name |
| 598195317 | CV3951310 | single nucleotide variant | NM_001407.3(CELSR3):c.5320A>G (p.Ser1774Gly) | not specified [RCV005313310] | uncertain significance | 3 | 48653747 | 48653747 | Human | | name |
| 598195322 | CV3951311 | single nucleotide variant | NM_001407.3(CELSR3):c.8543G>A (p.Arg2848His) | not specified [RCV005313311] | uncertain significance | 3 | 48642748 | 48642748 | Human | | name |
| 598195328 | CV3951312 | single nucleotide variant | NM_001407.3(CELSR3):c.9250C>G (p.Arg3084Gly) | not specified [RCV005313312] | uncertain significance | 3 | 48640335 | 48640335 | Human | | name |
| 598195336 | CV3951313 | single nucleotide variant | NM_001407.3(CELSR3):c.9266C>A (p.Pro3089His) | not specified [RCV005313313] | uncertain significance | 3 | 48640319 | 48640319 | Human | | name |
| 598195342 | CV3951314 | single nucleotide variant | NM_001407.3(CELSR3):c.9119G>A (p.Arg3040His) | not specified [RCV005313314] | uncertain significance | 3 | 48640466 | 48640466 | Human | | name |
| 8570762 | CV48715 | single nucleotide variant | NM_001407.3(CELSR3):c.7890G>A (p.Met2630Ile) | Variant of unknown significance [RCV000033236]|not provided [RCV000970442] | benign|uncertain significance | 3 | 48645117 | 48645117 | Human | | name |
| 15171780 | CV698156 | single nucleotide variant | NM_001407.3(CELSR3):c.9827C>T (p.Pro3276Leu) | CELSR3-related disorder [RCV003925916]|not provided [RCV000949894] | benign | 3 | 48639758 | 48639758 | Human | | name , trait , alternate_id |
| 15196064 | CV698157 | single nucleotide variant | NM_001407.3(CELSR3):c.7954G>A (p.Val2652Ile) | not provided [RCV000956093] | benign | 3 | 48645053 | 48645053 | Human | | name |
| 15133235 | CV708918 | single nucleotide variant | NM_001407.3(CELSR3):c.9904G>C (p.Asp3302His) | not provided [RCV000964916] | benign | 3 | 48639681 | 48639681 | Human | | name |
| 15133240 | CV708919 | single nucleotide variant | NM_001407.3(CELSR3):c.9602G>A (p.Arg3201Gln) | not provided [RCV000964917] | benign | 3 | 48639983 | 48639983 | Human | | name |
| 15182985 | CV720520 | single nucleotide variant | NM_001407.3(CELSR3):c.7351G>A (p.Gly2451Arg) | not provided [RCV000886121] | benign | 3 | 48646202 | 48646202 | Human | | name |
| 15164139 | CV734145 | single nucleotide variant | NM_001407.3(CELSR3):c.9875C>T (p.Thr3292Met) | not provided [RCV000903936] | likely benign | 3 | 48639710 | 48639710 | Human | | name |
| 38456901 | CV789734 | single nucleotide variant | NM_001407.3(CELSR3):c.9098G>A (p.Arg3033His) | Bladder exstrophy-epispadias-cloacal extrophy complex [RCV004556071]|Hypertrophic cardiomyopathy [RCV001199397] | benign|uncertain significance | 3 | 48640487 | 48640487 | Human | 3 | name |
| 21068566 | CV795446 | single nucleotide variant | NM_001407.3(CELSR3):c.8885C>G (p.Pro2962Arg) | not provided [RCV000998071] | uncertain significance | 3 | 48641464 | 48641464 | Human | | name |
| 21068567 | CV795447 | single nucleotide variant | NM_001407.3(CELSR3):c.8585C>T (p.Ala2862Val) | not provided [RCV000998072]|not specified [RCV004030234] | uncertain significance | 3 | 48642438 | 48642438 | Human | | name |
| 8625636 | CV80760 | single nucleotide variant | NM_001407.2(CELSR3):c.9341C>T (p.Pro3114Leu) | Malignant melanoma [RCV000060837] | not provided | 3 | 48640244 | 48640244 | Human | | name |
| 28878212 | CV859284 | single nucleotide variant | NM_001407.3(CELSR3):c.7928G>A (p.Arg2643His) | not provided [RCV001090577] | uncertain significance | 3 | 48645079 | 48645079 | Human | | name |
| 8630870 | CV86025 | single nucleotide variant | NM_001407.2(CELSR3):c.7582C>T (p.Pro2528Ser) | Malignant melanoma [RCV000066109] | not provided | 3 | 48645750 | 48645750 | Human | | name |
| 8630872 | CV86027 | single nucleotide variant | NM_001407.2(CELSR3):c.3017G>A (p.Gly1006Glu) | Malignant melanoma [RCV000066111] | not provided | 3 | 48659618 | 48659618 | Human | | name |
| 401945734 | CV2839601 | deletion | NM_001407.3(CELSR3):c.7224_7226del (p.Ile2409del) | See cases [RCV003458275] | uncertain significance | 3 | 48646832 | 48646834 | Human | | name |
