| 156358777 | CV2260802 | single nucleotide variant | NM_014791.4(MELK):c.77A>C (p.Lys26Thr) | not specified [RCV004125717] | uncertain significance | 9 | 36583645 | 36583645 | Human | | name |
| 407518088 | CV3449842 | single nucleotide variant | NM_014791.4(MELK):c.50T>C (p.Ile17Thr) | not specified [RCV004628750] | uncertain significance | 9 | 36581731 | 36581731 | Human | | name |
| 597634796 | CV3556594 | single nucleotide variant | NM_014791.4(MELK):c.49A>C (p.Ile17Leu) | not specified [RCV004824224] | uncertain significance | 9 | 36581730 | 36581730 | Human | | name |
| 15106282 | CV711973 | single nucleotide variant | NM_014791.4(MELK):c.77A>G (p.Lys26Arg) | not provided [RCV000960045] | benign | 9 | 36583645 | 36583645 | Human | | name |
| 15179416 | CV767419 | single nucleotide variant | NM_014791.4(MELK):c.366T>C (p.Tyr122=) | not provided [RCV000929633] | likely benign | 9 | 36594732 | 36594732 | Human | | name |
| 156058975 | CV2239288 | single nucleotide variant | NM_014791.4(MELK):c.290A>G (p.Tyr97Cys) | not specified [RCV004112250] | uncertain significance | 9 | 36594656 | 36594656 | Human | | name |
| 156267472 | CV2244007 | single nucleotide variant | NM_014791.4(MELK):c.150T>G (p.Asp50Glu) | not specified [RCV004108501] | uncertain significance | 9 | 36589541 | 36589541 | Human | | name |
| 156002946 | CV2399608 | single nucleotide variant | NM_014791.4(MELK):c.224T>G (p.Val75Gly) | not specified [RCV004244127] | uncertain significance | 9 | 36589615 | 36589615 | Human | | name |
| 329362728 | CV2464713 | single nucleotide variant | NM_014791.4(MELK):c.189C>G (p.Asn63Lys) | not specified [RCV004284686] | uncertain significance | 9 | 36589580 | 36589580 | Human | | name |
| 401736094 | CV2703041 | single nucleotide variant | NM_014791.4(MELK):c.294A>G (p.Ile98Met) | not specified [RCV004321345] | uncertain significance | 9 | 36594660 | 36594660 | Human | | name |
| 407502680 | CV3449839 | single nucleotide variant | NM_014791.4(MELK):c.248T>A (p.Phe83Tyr) | not specified [RCV004645226] | uncertain significance | 9 | 36589639 | 36589639 | Human | | name |
| 597677683 | CV3556592 | single nucleotide variant | NM_014791.4(MELK):c.259G>C (p.Glu87Gln) | not specified [RCV004830507] | uncertain significance | 9 | 36589650 | 36589650 | Human | | name |
| 15158911 | CV701005 | single nucleotide variant | NM_014791.4(MELK):c.1218A>G (p.Lys406=) | not provided [RCV000947168] | benign | 9 | 36665391 | 36665391 | Human | | name |
| 15134316 | CV711975 | single nucleotide variant | NM_014791.4(MELK):c.1083C>T (p.Thr361=) | not provided [RCV000965105] | benign | 9 | 36657270 | 36657270 | Human | | name |
| 156131123 | CV2235212 | single nucleotide variant | NM_014791.4(MELK):c.967A>G (p.Lys323Glu) | not specified [RCV004107263] | uncertain significance | 9 | 36651791 | 36651791 | Human | | name |
| 155993807 | CV2253620 | single nucleotide variant | NM_014791.4(MELK):c.541C>G (p.Gln181Glu) | not specified [RCV004125303] | uncertain significance | 9 | 36599460 | 36599460 | Human | | name |
| 156037022 | CV2313400 | single nucleotide variant | NM_014791.4(MELK):c.724C>G (p.Gln242Glu) | not specified [RCV004163722] | uncertain significance | 9 | 36630356 | 36630356 | Human | | name |
| 156043477 | CV2387988 | single nucleotide variant | NM_014791.4(MELK):c.949T>C (p.Tyr317His) | not specified [RCV004236522] | uncertain significance | 9 | 36651773 | 36651773 | Human | | name |
| 401734872 | CV2706569 | single nucleotide variant | NM_014791.4(MELK):c.338T>C (p.Phe113Ser) | not specified [RCV004319154] | uncertain significance | 9 | 36594704 | 36594704 | Human | | name |
| 401762288 | CV2723387 | single nucleotide variant | NM_014791.4(MELK):c.541C>A (p.Gln181Lys) | not specified [RCV004329594] | uncertain significance | 9 | 36599460 | 36599460 | Human | | name |
| 401779215 | CV2733235 | single nucleotide variant | NM_014791.4(MELK):c.976C>T (p.Arg326Trp) | not specified [RCV004332151] | uncertain significance | 9 | 36651800 | 36651800 | Human | | name |
| 401884473 | CV2759331 | single nucleotide variant | NM_014791.4(MELK):c.328C>T (p.Arg110Trp) | not specified [RCV004335914] | uncertain significance | 9 | 36594694 | 36594694 | Human | | name |
| 401885345 | CV2783242 | single nucleotide variant | NM_014791.4(MELK):c.367G>A (p.Val123Met) | not specified [RCV004363860] | uncertain significance | 9 | 36594733 | 36594733 | Human | | name |
| 405693606 | CV3281982 | single nucleotide variant | NM_014791.4(MELK):c.426A>C (p.Glu142Asp) | not specified [RCV004424134] | uncertain significance | 9 | 36597242 | 36597242 | Human | | name |
| 405693610 | CV3281983 | single nucleotide variant | NM_014791.4(MELK):c.755T>A (p.Ile252Asn) | not specified [RCV004424135] | uncertain significance | 9 | 36633121 | 36633121 | Human | | name |
| 405693616 | CV3281984 | single nucleotide variant | NM_014791.4(MELK):c.789C>G (p.Ile263Met) | not specified [RCV004424136] | uncertain significance | 9 | 36633155 | 36633155 | Human | | name |
| 405693621 | CV3281985 | single nucleotide variant | NM_014791.4(MELK):c.803A>G (p.Asn268Ser) | not specified [RCV004424137] | uncertain significance | 9 | 36633169 | 36633169 | Human | | name |
| 405693627 | CV3281986 | single nucleotide variant | NM_014791.4(MELK):c.866A>C (p.Glu289Ala) | not specified [RCV004424138] | uncertain significance | 9 | 36643028 | 36643028 | Human | | name |
| 405693633 | CV3281987 | single nucleotide variant | NM_014791.4(MELK):c.926A>G (p.Gln309Arg) | not specified [RCV004424139] | uncertain significance | 9 | 36651750 | 36651750 | Human | | name |
| 405693639 | CV3281988 | single nucleotide variant | NM_014791.4(MELK):c.976C>G (p.Arg326Gly) | not specified [RCV004424140] | uncertain significance | 9 | 36651800 | 36651800 | Human | | name |
| 407502687 | CV3449843 | single nucleotide variant | NM_014791.4(MELK):c.902T>C (p.Met301Thr) | not specified [RCV004645229] | uncertain significance | 9 | 36643064 | 36643064 | Human | | name |
| 598225642 | CV3985800 | single nucleotide variant | NM_014791.4(MELK):c.540A>G (p.Ile180Met) | not specified [RCV005380438] | uncertain significance | 9 | 36599459 | 36599459 | Human | | name |
| 598241546 | CV3985802 | single nucleotide variant | NM_014791.4(MELK):c.646G>C (p.Ala216Pro) | not specified [RCV005364832] | uncertain significance | 9 | 36607653 | 36607653 | Human | | name |
| 15198308 | CV701004 | single nucleotide variant | NM_014791.4(MELK):c.998G>A (p.Arg333Lys) | not provided [RCV000956716] | benign | 9 | 36651822 | 36651822 | Human | | name |
| 15157350 | CV737135 | single nucleotide variant | NM_014791.4(MELK):c.859G>A (p.Val287Ile) | not provided [RCV000902511] | likely benign | 9 | 36643021 | 36643021 | Human | | name |
| 15184057 | CV767420 | single nucleotide variant | NM_014791.4(MELK):c.793C>T (p.Gln265Ter) | not provided [RCV000930724] | likely benign | 9 | 36633159 | 36633159 | Human | | name |
| 21070003 | CV796321 | duplication | NM_014791.4(MELK):c.1193dup (p.Glu399fs) | not provided [RCV000999169] | uncertain significance | 9 | 36665365 | 36665366 | Human | | name |
| 126908739 | CV969931 | single nucleotide variant | NM_014791.4(MELK):c.693G>A (p.Trp231Ter) | Hereditary breast ovarian cancer syndrome [RCV001374559] | uncertain significance | 9 | 36630325 | 36630325 | Human | 1 | name |
| 156275934 | CV2209720 | single nucleotide variant | NM_014791.4(MELK):c.1510C>T (p.Arg504Cys) | not specified [RCV004083044] | uncertain significance | 9 | 36671002 | 36671002 | Human | | name |
| 155922733 | CV2219098 | single nucleotide variant | NM_014791.4(MELK):c.1142T>C (p.Leu381Ser) | not specified [RCV004087259] | likely benign | 9 | 36657329 | 36657329 | Human | | name |
| 156337180 | CV2228651 | single nucleotide variant | NM_014791.4(MELK):c.1421G>T (p.Cys474Phe) | not specified [RCV004092874] | uncertain significance | 9 | 36669322 | 36669322 | Human | | name |
| 156186009 | CV2236101 | single nucleotide variant | NM_014791.4(MELK):c.1000C>T (p.Leu334Phe) | not specified [RCV004114251] | uncertain significance | 9 | 36651824 | 36651824 | Human | | name |
| 156314537 | CV2257174 | single nucleotide variant | NM_014791.4(MELK):c.1861C>G (p.Pro621Ala) | not specified [RCV004123126] | uncertain significance | 9 | 36677242 | 36677242 | Human | | name |
| 156167799 | CV2270513 | single nucleotide variant | NM_014791.4(MELK):c.1166G>A (p.Arg389Gln) | not specified [RCV004137471] | likely benign | 9 | 36657353 | 36657353 | Human | | name |
| 156258861 | CV2274065 | single nucleotide variant | NM_014791.4(MELK):c.1951G>T (p.Val651Leu) | not specified [RCV004134717] | uncertain significance | 9 | 36677332 | 36677332 | Human | | name |
| 156106099 | CV2361389 | single nucleotide variant | NM_014791.4(MELK):c.1657G>A (p.Gly553Arg) | not specified [RCV004218591] | uncertain significance | 9 | 36671149 | 36671149 | Human | | name |
| 156391091 | CV2385074 | single nucleotide variant | NM_014791.4(MELK):c.1648G>A (p.Ala550Thr) | not specified [RCV004228339] | uncertain significance | 9 | 36671140 | 36671140 | Human | | name |
| 401887443 | CV2771941 | single nucleotide variant | NM_014791.4(MELK):c.1102G>A (p.Val368Met) | not specified [RCV004344636] | uncertain significance | 9 | 36657289 | 36657289 | Human | | name |
| 405693586 | CV3281978 | single nucleotide variant | NM_014791.4(MELK):c.1106C>A (p.Ala369Glu) | not specified [RCV004424130] | uncertain significance | 9 | 36657293 | 36657293 | Human | | name |
| 405693591 | CV3281979 | single nucleotide variant | NM_014791.4(MELK):c.1162C>G (p.Pro388Ala) | not specified [RCV004424131] | uncertain significance | 9 | 36657349 | 36657349 | Human | | name |
| 405693595 | CV3281980 | single nucleotide variant | NM_014791.4(MELK):c.1346A>G (p.Asn449Ser) | not specified [RCV004424132] | uncertain significance | 9 | 36665519 | 36665519 | Human | | name |
| 405693601 | CV3281981 | single nucleotide variant | NM_014791.4(MELK):c.1544T>C (p.Met515Thr) | not specified [RCV004424133] | uncertain significance | 9 | 36671036 | 36671036 | Human | | name |
| 407502683 | CV3449840 | single nucleotide variant | NM_014791.4(MELK):c.1588C>T (p.Leu530Phe) | not specified [RCV004645227] | uncertain significance | 9 | 36671080 | 36671080 | Human | | name |
| 597634790 | CV3556591 | single nucleotide variant | NM_014791.4(MELK):c.1106C>T (p.Ala369Val) | not specified [RCV004824223] | uncertain significance | 9 | 36657293 | 36657293 | Human | | name |
| 597677695 | CV3556593 | single nucleotide variant | NM_014791.4(MELK):c.1889G>A (p.Arg630Gln) | not specified [RCV004830508] | uncertain significance | 9 | 36677270 | 36677270 | Human | | name |
| 597677703 | CV3556595 | single nucleotide variant | NM_014791.4(MELK):c.1189T>C (p.Trp397Arg) | not specified [RCV004830509] | uncertain significance | 9 | 36665362 | 36665362 | Human | | name |
| 597677715 | CV3556596 | single nucleotide variant | NM_014791.4(MELK):c.1555C>T (p.Pro519Ser) | not specified [RCV004830510] | uncertain significance | 9 | 36671047 | 36671047 | Human | | name |
| 597677729 | CV3556597 | single nucleotide variant | NM_014791.4(MELK):c.1657G>C (p.Gly553Arg) | not specified [RCV004830511] | uncertain significance | 9 | 36671149 | 36671149 | Human | | name |
| 597677737 | CV3556598 | single nucleotide variant | NM_014791.4(MELK):c.1639A>G (p.Lys547Glu) | not specified [RCV004830512] | uncertain significance | 9 | 36671131 | 36671131 | Human | | name |
| 597677747 | CV3556599 | single nucleotide variant | NM_014791.4(MELK):c.1234T>G (p.Leu412Val) | not specified [RCV004830513] | uncertain significance | 9 | 36665407 | 36665407 | Human | | name |
| 598225632 | CV3985797 | single nucleotide variant | NM_014791.4(MELK):c.1613T>A (p.Ile538Asn) | not specified [RCV005380436] | uncertain significance | 9 | 36671105 | 36671105 | Human | | name |
| 598225636 | CV3985798 | single nucleotide variant | NM_014791.4(MELK):c.1186T>C (p.Tyr396His) | not specified [RCV005380437] | likely benign | 9 | 36665359 | 36665359 | Human | | name |
| 598241535 | CV3985799 | single nucleotide variant | NM_014791.4(MELK):c.1804T>C (p.Ser602Pro) | not specified [RCV005364830] | uncertain significance | 9 | 36677185 | 36677185 | Human | | name |
| 598241540 | CV3985801 | single nucleotide variant | NM_014791.4(MELK):c.1755G>C (p.Lys585Asn) | not specified [RCV005364831] | uncertain significance | 9 | 36674914 | 36674914 | Human | | name |
| 598225648 | CV3985803 | single nucleotide variant | NM_014791.4(MELK):c.1147A>G (p.Thr383Ala) | not specified [RCV005380439] | uncertain significance | 9 | 36657334 | 36657334 | Human | | name |
| 598225655 | CV3985804 | single nucleotide variant | NM_014791.4(MELK):c.1862C>T (p.Pro621Leu) | not specified [RCV005380440] | uncertain significance | 9 | 36677243 | 36677243 | Human | | name |
| 15134308 | CV711974 | single nucleotide variant | NM_014791.4(MELK):c.1043C>T (p.Thr348Ile) | not provided [RCV000965104] | benign | 9 | 36651867 | 36651867 | Human | | name |
| 15174813 | CV711976 | single nucleotide variant | NM_014791.4(MELK):c.1619T>C (p.Val540Ala) | not provided [RCV000972797] | benign | 9 | 36671111 | 36671111 | Human | | name |
| 10041664 | CV185715 | single nucleotide variant | NM_016069.11(PAM16):c.226A>G (p.Asn76Asp) | Autosomal recessive spondylometaphyseal dysplasia, Megarbane type [RCV000167551] | pathogenic|not provided | 16 | 4340985 | 4340985 | Human | 1 | alternate_id |
| 13820753 | CV576172 | single nucleotide variant | NM_016069.11(PAM16):c.112C>G (p.Arg38Gly) | Autosomal recessive spondylometaphyseal dysplasia, Megarbane type [RCV000709807]|not provided [RCV002532893] | uncertain significance|not provided | 16 | 4341481 | 4341481 | Human | 1 | alternate_id |
| 14698231 | CV624089 | single nucleotide variant | NM_016069.11(PAM16):c.221A>C (p.Gln74Pro) | Autosomal recessive spondylometaphyseal dysplasia, Megarbane type [RCV000788051] | pathogenic | 16 | 4341372 | 4341372 | Human | 1 | alternate_id |
