| NM_016653.3(MAP3K20):c.817T>C (p.Cys273Arg) |
single nucleotide variant |
Split-foot malformation-mesoaxial polydactyly syndrome [RCV001332155] |
Chr2:173209801 [GRCh38]
Chr2:174074529 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.2(ZAK):c.1348A>G (p.Thr450Ala) |
single nucleotide variant |
Malignant melanoma [RCV000060402] |
Chr2:173239485 [GRCh38]
Chr2:174104213 [GRCh37]
Chr2:173812459 [NCBI36]
Chr2:2q31.1 |
not provided |
| NM_016653.3(MAP3K20):c.1103T>G (p.Phe368Cys) |
single nucleotide variant |
Split hand-foot malformation 1 [RCV000202370]|Split-foot malformation-mesoaxial polydactyly syndrome [RCV000210484] |
Chr2:173232359 [GRCh38]
Chr2:174097087 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 |
copy number loss |
See cases [RCV000136850] |
Chr2:171429233..189179568 [GRCh38]
Chr2:172285743..190044294 [GRCh37]
Chr2:171993989..189752539 [NCBI36]
Chr2:2q31.1-32.2 |
pathogenic |
| GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1 |
copy number loss |
See cases [RCV000139646] |
Chr2:171513047..177854080 [GRCh38]
Chr2:172369557..178718807 [GRCh37]
Chr2:172077803..178427053 [NCBI36]
Chr2:2q31.1-31.2 |
pathogenic |
| GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 |
copy number gain |
See cases [RCV000142286] |
Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1 |
pathogenic |
| GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 |
copy number loss |
See cases [RCV000051201] |
Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1 |
pathogenic |
| GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1 |
copy number loss |
See cases [RCV000050765] |
Chr2:172779876..177598000 [GRCh38]
Chr2:173644604..178462728 [GRCh37]
Chr2:173352850..178170974 [NCBI36]
Chr2:2q31.1-31.2 |
pathogenic |
| GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1 |
copy number loss |
See cases [RCV000052554] |
Chr2:172366752..176361187 [GRCh38]
Chr2:173231480..177225915 [GRCh37]
Chr2:172939726..176934161 [NCBI36]
Chr2:2q31.1 |
pathogenic |
| GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 |
copy number loss |
See cases [RCV000054122] |
Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1 |
pathogenic |
| GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1 |
copy number loss |
See cases [RCV000054127] |
Chr2:170407688..186189894 [GRCh38]
Chr2:171264198..187054621 [GRCh37]
Chr2:170972444..186762866 [NCBI36]
Chr2:2q31.1-32.1 |
pathogenic |
| NM_016653.2(MAP3K20):c.988-4814_1359+60del |
deletion |
Split-foot malformation-mesoaxial polydactyly syndrome [RCV000210488] |
Chr2:173224875..173239556 [GRCh38]
Chr2:174089603..174104284 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_016653.3(MAP3K20):c.1360-14_1360-9del |
deletion |
Split-foot malformation-mesoaxial polydactyly syndrome [RCV002488440]|not provided [RCV001609470] |
Chr2:173258681..173258686 [GRCh38]
Chr2:174123409..174123414 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_016653.3(MAP3K20):c.1360-111del |
deletion |
not provided [RCV001541521] |
Chr2:173258577 [GRCh38]
Chr2:174123305 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.745-82T>C |
single nucleotide variant |
not provided [RCV001667154] |
Chr2:173209647 [GRCh38]
Chr2:174074375 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.670-11G>C |
single nucleotide variant |
Myopathy, centronuclear, 6, with fiber-type disproportion [RCV001776254]|Split-foot malformation-mesoaxial polydactyly syndrome [RCV001776253]|not provided [RCV001534663] |
Chr2:173203785 [GRCh38]
Chr2:174068513 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.*48_*50dup |
duplication |
not provided [RCV001679591] |
Chr2:173266783..173266784 [GRCh38]
Chr2:174131511..174131512 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.748C>T (p.Arg250Trp) |
single nucleotide variant |
Split-foot malformation-mesoaxial polydactyly syndrome [RCV003987695]|not provided [RCV000762290] |
Chr2:173209732 [GRCh38]
Chr2:174074460 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.*50dup |
duplication |
not provided [RCV001681534] |
Chr2:173266783..173266784 [GRCh38]
Chr2:174131511..174131512 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.2047C>T (p.Arg683Cys) |
single nucleotide variant |
MAP3K20-related condition [RCV003910751]|not provided [RCV000901114] |
Chr2:173266394 [GRCh38]
Chr2:174131122 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1346G>A (p.Gly449Glu) |
single nucleotide variant |
MAP3K20-related condition [RCV003923132]|not provided [RCV000910183] |
Chr2:173239483 [GRCh38]
Chr2:174104211 [GRCh37]
Chr2:2q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_016653.3(MAP3K20):c.987+4307C>T |
single nucleotide variant |
not provided [RCV001721618] |
Chr2:173221557 [GRCh38]
Chr2:174086285 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1359+134T>C |
single nucleotide variant |
not provided [RCV001639146] |
Chr2:173239630 [GRCh38]
Chr2:174104358 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.745-104T>G |
single nucleotide variant |
not provided [RCV001649001] |
Chr2:173209625 [GRCh38]
Chr2:174074353 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.*50del |
deletion |
not provided [RCV001687581] |
Chr2:173266784 [GRCh38]
Chr2:174131512 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1032+113G>T |
single nucleotide variant |
not provided [RCV001647683] |
Chr2:173229846 [GRCh38]
Chr2:174094574 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1702+182A>G |
single nucleotide variant |
not provided [RCV001658434] |
Chr2:173264077 [GRCh38]
Chr2:174128805 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.2205G>C (p.Arg735Ser) |
single nucleotide variant |
not provided [RCV000974045] |
Chr2:173266552 [GRCh38]
Chr2:174131280 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.2351A>C (p.Lys784Thr) |
single nucleotide variant |
not provided [RCV000974934] |
Chr2:173266698 [GRCh38]
Chr2:174131426 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.843G>A (p.Ala281=) |
single nucleotide variant |
not provided [RCV000953249] |
Chr2:173209827 [GRCh38]
Chr2:174074555 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_016653.3(MAP3K20):c.800C>T (p.Thr267Met) |
single nucleotide variant |
not provided [RCV000956003] |
Chr2:173209784 [GRCh38]
Chr2:174074512 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.897T>C (p.Arg299=) |
single nucleotide variant |
not provided [RCV000912655] |
Chr2:173217160 [GRCh38]
Chr2:174081888 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.*47A>G |
single nucleotide variant |
not provided [RCV001620937] |
Chr2:173266797 [GRCh38]
Chr2:174131525 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.*49_*50dup |
duplication |
not provided [RCV001636166] |
Chr2:173266783..173266784 [GRCh38]
Chr2:174131511..174131512 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1267-81dup |
duplication |
not provided [RCV001675507] |
Chr2:173239309..173239310 [GRCh38]
Chr2:174104037..174104038 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.987+3763A>G |
single nucleotide variant |
not provided [RCV001641906] |
Chr2:173221013 [GRCh38]
Chr2:174085741 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1122A>G (p.Thr374=) |
single nucleotide variant |
not provided [RCV001617255] |
Chr2:173232378 [GRCh38]
Chr2:174097106 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.987+122C>G |
single nucleotide variant |
not provided [RCV001684165] |
Chr2:173217372 [GRCh38]
Chr2:174082100 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1032+39G>A |
single nucleotide variant |
Myopathy, centronuclear, 6, with fiber-type disproportion [RCV001776282]|Split-foot malformation-mesoaxial polydactyly syndrome [RCV001776281]|not provided [RCV001680126] |
Chr2:173229772 [GRCh38]
Chr2:174094500 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.988-72A>T |
single nucleotide variant |
not provided [RCV001612190] |
Chr2:173229617 [GRCh38]
Chr2:174094345 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.583-159A>G |
single nucleotide variant |
not provided [RCV001610976] |
Chr2:173197867 [GRCh38]
Chr2:174062595 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1551+95T>C |
single nucleotide variant |
not provided [RCV001707305] |
Chr2:173261232 [GRCh38]
Chr2:174125960 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1674T>C (p.Asp558=) |
single nucleotide variant |
not provided [RCV001609870] |
Chr2:173263867 [GRCh38]
Chr2:174128595 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1552-203A>T |
single nucleotide variant |
not provided [RCV001671510] |
Chr2:173263542 [GRCh38]
Chr2:174128270 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1266+203T>C |
single nucleotide variant |
not provided [RCV001616378] |
Chr2:173238638 [GRCh38]
Chr2:174103366 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.2317T>C (p.Tyr773His) |
single nucleotide variant |
not provided [RCV001641578] |
Chr2:173266664 [GRCh38]
Chr2:174131392 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.2263A>T (p.Arg755Ter) |
single nucleotide variant |
Myopathy, centronuclear, 6, with fiber-type disproportion [RCV001332154] |
Chr2:173266610 [GRCh38]
Chr2:174131338 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_016653.3(MAP3K20):c.987+3769C>T |
single nucleotide variant |
not provided [RCV001538977] |
Chr2:173221019 [GRCh38]
Chr2:174085747 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1360-28A>G |
single nucleotide variant |
Myopathy, centronuclear, 6, with fiber-type disproportion [RCV001776297]|Split-foot malformation-mesoaxial polydactyly syndrome [RCV001776296]|not provided [RCV001693152] |
Chr2:173258671 [GRCh38]
Chr2:174123399 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1263T>C (p.Ile421=) |
single nucleotide variant |
not provided [RCV001671305] |
Chr2:173238432 [GRCh38]
Chr2:174103160 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1738C>T (p.Arg580Trp) |
single nucleotide variant |
not provided [RCV001666838] |
Chr2:173266085 [GRCh38]
Chr2:174130813 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.745-50A>G |
single nucleotide variant |
not provided [RCV001617305] |
Chr2:173209679 [GRCh38]
Chr2:174074407 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1360-154A>C |
single nucleotide variant |
not provided [RCV001691832] |
Chr2:173258545 [GRCh38]
Chr2:174123273 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1592C>T (p.Ser531Leu) |
single nucleotide variant |
MAP3K20-related condition [RCV003975924]|Myopathy, centronuclear, 6, with fiber-type disproportion [RCV001776280]|Split-foot malformation-mesoaxial polydactyly syndrome [RCV001776279]|not provided [RCV001685590] |
Chr2:173263785 [GRCh38]
Chr2:174128513 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1032+190T>C |
single nucleotide variant |
not provided [RCV001710445] |
Chr2:173229923 [GRCh38]
Chr2:174094651 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.2347G>A (p.Ala783Thr) |
single nucleotide variant |
not provided [RCV003108778] |
Chr2:173266694 [GRCh38]
Chr2:174131422 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2270G>C (p.Ser757Thr) |
single nucleotide variant |
not provided [RCV003107033] |
Chr2:173266617 [GRCh38]
Chr2:174131345 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1997C>A (p.Thr666Asn) |
single nucleotide variant |
not provided [RCV003104566] |
Chr2:173266344 [GRCh38]
Chr2:174131072 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.719A>C (p.His240Pro) |
single nucleotide variant |
not provided [RCV003104550] |
Chr2:173203845 [GRCh38]
Chr2:174068573 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.834CAA[1] (p.Asn279del) |
microsatellite |
MAP3K20-related condition [RCV001788990] |
Chr2:173209817..173209819 [GRCh38]
Chr2:174074545..174074547 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_016653.3(MAP3K20):c.1270_1272del (p.Ser424del) |
deletion |
not provided [RCV001889335] |
Chr2:173239407..173239409 [GRCh38]
Chr2:174104135..174104137 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1517A>G (p.Lys506Arg) |
single nucleotide variant |
not provided [RCV001915534] |
Chr2:173261103 [GRCh38]
Chr2:174125831 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2320C>T (p.Arg774Trp) |
single nucleotide variant |
not provided [RCV002045611] |
Chr2:173266667 [GRCh38]
Chr2:174131395 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1054G>A (p.Val352Ile) |
single nucleotide variant |
not provided [RCV001915466] |
Chr2:173232213 [GRCh38]
Chr2:174096941 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2128T>C (p.Tyr710His) |
single nucleotide variant |
not provided [RCV002045474] |
Chr2:173266475 [GRCh38]
Chr2:174131203 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2266G>A (p.Ala756Thr) |
single nucleotide variant |
not provided [RCV002022804] |
Chr2:173266613 [GRCh38]
Chr2:174131341 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1064G>A (p.Gly355Asp) |
single nucleotide variant |
not provided [RCV001929435] |
Chr2:173232320 [GRCh38]
Chr2:174097048 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.670-11_670-10del |
deletion |
not provided [RCV001874871] |
Chr2:173203784..173203785 [GRCh38]
Chr2:174068512..174068513 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1388T>C (p.Met463Thr) |
single nucleotide variant |
not provided [RCV002020812] |
Chr2:173258727 [GRCh38]
Chr2:174123455 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2056A>G (p.Ile686Val) |
single nucleotide variant |
not provided [RCV001949170] |
Chr2:173266403 [GRCh38]
Chr2:174131131 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.676A>G (p.Thr226Ala) |
single nucleotide variant |
not provided [RCV001874396] |
Chr2:173203802 [GRCh38]
Chr2:174068530 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.842C>T (p.Ala281Val) |
single nucleotide variant |
not provided [RCV001914641] |
Chr2:173209826 [GRCh38]
Chr2:174074554 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.754T>A (p.Ser252Thr) |
single nucleotide variant |
not provided [RCV001892139] |
Chr2:173209738 [GRCh38]
Chr2:174074466 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1843G>T (p.Val615Leu) |
single nucleotide variant |
not provided [RCV001929091] |
Chr2:173266190 [GRCh38]
Chr2:174130918 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.2014C>T (p.Arg672Ter) |
single nucleotide variant |
not provided [RCV001871074] |
Chr2:173266361 [GRCh38]
Chr2:174131089 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.890T>G (p.Leu297Arg) |
single nucleotide variant |
not provided [RCV001966377] |
Chr2:173217153 [GRCh38]
Chr2:174081881 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1389G>T (p.Met463Ile) |
single nucleotide variant |
not provided [RCV001968865] |
Chr2:173258728 [GRCh38]
Chr2:174123456 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1357C>T (p.Gln453Ter) |
single nucleotide variant |
not provided [RCV001889908] |
Chr2:173239494 [GRCh38]
Chr2:174104222 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_016653.3(MAP3K20):c.1036T>C (p.Cys346Arg) |
single nucleotide variant |
not provided [RCV002022709] |
Chr2:173232195 [GRCh38]
Chr2:174096923 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.670-11_670-8del |
deletion |
not provided [RCV002024020] |
Chr2:173203782..173203785 [GRCh38]
Chr2:174068510..174068513 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1540G>A (p.Val514Ile) |
single nucleotide variant |
not provided [RCV001966117] |
Chr2:173261126 [GRCh38]
Chr2:174125854 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.875A>T (p.Glu292Val) |
single nucleotide variant |
not provided [RCV002043616] |
Chr2:173217138 [GRCh38]
Chr2:174081866 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.878G>A (p.Arg293Lys) |
single nucleotide variant |
not provided [RCV001871146] |
Chr2:173217141 [GRCh38]
Chr2:174081869 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.586C>G (p.Leu196Val) |
single nucleotide variant |
not provided [RCV001892092] |
Chr2:173198029 [GRCh38]
Chr2:174062757 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1900A>G (p.Arg634Gly) |
single nucleotide variant |
See cases [RCV002252757]|not provided [RCV002024242] |
Chr2:173266247 [GRCh38]
Chr2:174130975 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1393G>A (p.Gly465Arg) |
single nucleotide variant |
not provided [RCV001890670] |
Chr2:173258732 [GRCh38]
Chr2:174123460 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1130G>A (p.Arg377Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002555208]|not provided [RCV001893404] |
Chr2:173232386 [GRCh38]
Chr2:174097114 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.1228G>A (p.Asp410Asn) |
single nucleotide variant |
not provided [RCV001926716] |
Chr2:173238397 [GRCh38]
Chr2:174103125 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1607G>A (p.Arg536Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002548175]|not provided [RCV002043197] |
Chr2:173263800 [GRCh38]
Chr2:174128528 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1696G>A (p.Asp566Asn) |
single nucleotide variant |
not provided [RCV001945234] |
Chr2:173263889 [GRCh38]
Chr2:174128617 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1313_1343dup (p.Pro452fs) |
duplication |
not provided [RCV001946648] |
Chr2:173239445..173239446 [GRCh38]
Chr2:174104173..174104174 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_016653.3(MAP3K20):c.1592_1593delinsAT (p.Ser531Tyr) |
indel |
not provided [RCV001890679] |
Chr2:173263785..173263786 [GRCh38]
Chr2:174128513..174128514 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1786A>G (p.Ile596Val) |
single nucleotide variant |
not provided [RCV001944635] |
Chr2:173266133 [GRCh38]
Chr2:174130861 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1849C>T (p.Arg617Trp) |
single nucleotide variant |
not provided [RCV002011009] |
Chr2:173266196 [GRCh38]
Chr2:174130924 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1600T>C (p.Trp534Arg) |
single nucleotide variant |
not provided [RCV001961572] |
Chr2:173263793 [GRCh38]
Chr2:174128521 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2192A>G (p.Lys731Arg) |
single nucleotide variant |
not provided [RCV002019199] |
Chr2:173266539 [GRCh38]
Chr2:174131267 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2096A>G (p.Lys699Arg) |
single nucleotide variant |
not provided [RCV001977871] |
Chr2:173266443 [GRCh38]
Chr2:174131171 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1268A>G (p.Asp423Gly) |
single nucleotide variant |
not provided [RCV001932421] |
Chr2:173239405 [GRCh38]
Chr2:174104133 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1712G>A (p.Cys571Tyr) |
single nucleotide variant |
not provided [RCV002027019] |
Chr2:173266059 [GRCh38]
Chr2:174130787 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2308A>G (p.Lys770Glu) |
single nucleotide variant |
not provided [RCV001898100] |
Chr2:173266655 [GRCh38]
Chr2:174131383 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.623G>A (p.Gly208Asp) |
single nucleotide variant |
not provided [RCV002047136] |
Chr2:173198066 [GRCh38]
Chr2:174062794 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1481C>G (p.Pro494Arg) |
single nucleotide variant |
not provided [RCV002016336] |
Chr2:173261067 [GRCh38]
Chr2:174125795 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2175C>A (p.His725Gln) |
single nucleotide variant |
not provided [RCV002047231] |
Chr2:173266522 [GRCh38]
Chr2:174131250 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.983C>T (p.Thr328Ile) |
single nucleotide variant |
not provided [RCV001866361] |
Chr2:173217246 [GRCh38]
Chr2:174081974 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1810C>T (p.His604Tyr) |
single nucleotide variant |
not provided [RCV002047219] |
Chr2:173266157 [GRCh38]
Chr2:174130885 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2342C>T (p.Ser781Phe) |
single nucleotide variant |
not provided [RCV002013404] |
Chr2:173266689 [GRCh38]
Chr2:174131417 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1225C>T (p.His409Tyr) |
single nucleotide variant |
not provided [RCV002030149] |
Chr2:173238394 [GRCh38]
Chr2:174103122 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1656ATT[1] (p.Leu553del) |
microsatellite |
not provided [RCV002030197] |
Chr2:173263849..173263851 [GRCh38]
Chr2:174128577..174128579 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1360-17_1360-15del |
deletion |
not provided [RCV002030455] |
Chr2:173258681..173258683 [GRCh38]
Chr2:174123409..174123411 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.874G>C (p.Glu292Gln) |
single nucleotide variant |
not provided [RCV001906936] |
Chr2:173217137 [GRCh38]
Chr2:174081865 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2012G>T (p.Gly671Val) |
single nucleotide variant |
not provided [RCV001921494] |
Chr2:173266359 [GRCh38]
Chr2:174131087 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.941G>A (p.Arg314His) |
single nucleotide variant |
not provided [RCV001999500] |
Chr2:173217204 [GRCh38]
Chr2:174081932 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.702T>A (p.Ser234Arg) |
single nucleotide variant |
not provided [RCV001976724] |
Chr2:173203828 [GRCh38]
Chr2:174068556 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1825G>A (p.Asp609Asn) |
single nucleotide variant |
not provided [RCV001902150] |
Chr2:173266172 [GRCh38]
Chr2:174130900 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1694C>T (p.Ser565Phe) |
single nucleotide variant |
not provided [RCV002017891] |
Chr2:173263887 [GRCh38]
Chr2:174128615 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1903A>C (p.Ser635Arg) |
single nucleotide variant |
not provided [RCV002047469] |
Chr2:173266250 [GRCh38]
Chr2:174130978 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.800C>G (p.Thr267Arg) |
single nucleotide variant |
not provided [RCV001916051] |
Chr2:173209784 [GRCh38]
Chr2:174074512 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2066A>G (p.Asn689Ser) |
single nucleotide variant |
not provided [RCV002029232] |
Chr2:173266413 [GRCh38]
Chr2:174131141 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.2009G>A (p.Arg670Lys) |
single nucleotide variant |
not provided [RCV001960801] |
Chr2:173266356 [GRCh38]
Chr2:174131084 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2354C>A (p.Thr785Asn) |
single nucleotide variant |
not provided [RCV001959702] |
Chr2:173266701 [GRCh38]
Chr2:174131429 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1303A>T (p.Ile435Leu) |
single nucleotide variant |
not provided [RCV001980214] |
Chr2:173239440 [GRCh38]
Chr2:174104168 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1769G>A (p.Arg590His) |
single nucleotide variant |
not provided [RCV001960010] |
Chr2:173266116 [GRCh38]
Chr2:174130844 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1307T>G (p.Val436Gly) |
single nucleotide variant |
not provided [RCV002035795] |
Chr2:173239444 [GRCh38]
Chr2:174104172 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1677C>T (p.Gly559=) |
single nucleotide variant |
not provided [RCV001926233] |
Chr2:173263870 [GRCh38]
Chr2:174128598 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.1027G>A (p.Asp343Asn) |
single nucleotide variant |
not provided [RCV001924679] |
Chr2:173229728 [GRCh38]
Chr2:174094456 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.829C>G (p.Leu277Val) |
single nucleotide variant |
not provided [RCV001906550] |
Chr2:173209813 [GRCh38]
Chr2:174074541 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1216A>C (p.Lys406Gln) |
single nucleotide variant |
not provided [RCV002019564] |
Chr2:173238385 [GRCh38]
Chr2:174103113 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2334C>A (p.His778Gln) |
single nucleotide variant |
not provided [RCV001925845] |
Chr2:173266681 [GRCh38]
Chr2:174131409 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2382C>A (p.His794Gln) |
single nucleotide variant |
not provided [RCV001972950] |
Chr2:173266729 [GRCh38]
Chr2:174131457 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.871C>T (p.Leu291Phe) |
single nucleotide variant |
not provided [RCV001957720] |
Chr2:173217134 [GRCh38]
Chr2:174081862 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.693C>G (p.Cys231Trp) |
single nucleotide variant |
not provided [RCV002016402] |
Chr2:173203819 [GRCh38]
Chr2:174068547 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1739G>A (p.Arg580Gln) |
single nucleotide variant |
not provided [RCV001898290] |
Chr2:173266086 [GRCh38]
Chr2:174130814 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2297G>T (p.Gly766Val) |
single nucleotide variant |
not provided [RCV001922814] |
Chr2:173266644 [GRCh38]
Chr2:174131372 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.1082T>C (p.Met361Thr) |
single nucleotide variant |
not provided [RCV001935003] |
Chr2:173232338 [GRCh38]
Chr2:174097066 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1281A>C (p.Glu427Asp) |
single nucleotide variant |
not provided [RCV001996195] |
Chr2:173239418 [GRCh38]
Chr2:174104146 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2254A>G (p.Thr752Ala) |
single nucleotide variant |
not provided [RCV001901990] |
Chr2:173266601 [GRCh38]
Chr2:174131329 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2275G>A (p.Glu759Lys) |
single nucleotide variant |
not provided [RCV001938114] |
Chr2:173266622 [GRCh38]
Chr2:174131350 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1476+17G>A |
single nucleotide variant |
not provided [RCV002126621] |
Chr2:173258832 [GRCh38]
Chr2:174123560 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1360-10_1360-9del |
deletion |
not provided [RCV002128427] |
Chr2:173258686..173258687 [GRCh38]
Chr2:174123414..174123415 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1581A>G (p.Lys527=) |
single nucleotide variant |
not provided [RCV002185012] |
Chr2:173263774 [GRCh38]
Chr2:174128502 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.744+8T>C |
single nucleotide variant |
not provided [RCV002108732] |
Chr2:173203878 [GRCh38]
Chr2:174068606 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.988-5T>C |
single nucleotide variant |
not provided [RCV002146070] |
Chr2:173229684 [GRCh38]
Chr2:174094412 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1203+19A>C |
single nucleotide variant |
not provided [RCV002126147] |
Chr2:173232478 [GRCh38]
Chr2:174097206 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1552-10G>C |
single nucleotide variant |
not provided [RCV002187392] |
Chr2:173263735 [GRCh38]
Chr2:174128463 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1542C>G (p.Val514=) |
single nucleotide variant |
not provided [RCV002148713] |
Chr2:173261128 [GRCh38]
Chr2:174125856 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1020G>C (p.Thr340=) |
single nucleotide variant |
not provided [RCV002075823] |
Chr2:173229721 [GRCh38]
Chr2:174094449 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.612C>T (p.Val204=) |
single nucleotide variant |
not provided [RCV002089104] |
Chr2:173198055 [GRCh38]
Chr2:174062783 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1545A>T (p.Thr515=) |
single nucleotide variant |
not provided [RCV002189508] |
Chr2:173261131 [GRCh38]
Chr2:174125859 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.625T>C (p.Leu209=) |
single nucleotide variant |
not provided [RCV002108240] |
Chr2:173198068 [GRCh38]
Chr2:174062796 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1203+18A>G |
single nucleotide variant |
not provided [RCV002075189] |
Chr2:173232477 [GRCh38]
Chr2:174097205 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1552-18G>A |
single nucleotide variant |
not provided [RCV002185746] |
Chr2:173263727 [GRCh38]
Chr2:174128455 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1019C>T (p.Thr340Met) |
single nucleotide variant |
not provided [RCV002210724] |
Chr2:173229720 [GRCh38]
Chr2:174094448 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1362T>C (p.Asp454=) |
single nucleotide variant |
not provided [RCV002170916] |
Chr2:173258701 [GRCh38]
Chr2:174123429 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1267-8T>C |
single nucleotide variant |
not provided [RCV002185219] |
Chr2:173239396 [GRCh38]
Chr2:174104124 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1410A>C (p.Ile470=) |
single nucleotide variant |
not provided [RCV002091279] |
Chr2:173258749 [GRCh38]
Chr2:174123477 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.758T>C (p.Phe253Ser) |
single nucleotide variant |
not provided [RCV002112618] |
Chr2:173209742 [GRCh38]
Chr2:174074470 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.909T>C (p.Phe303=) |
single nucleotide variant |
not provided [RCV002076087] |
Chr2:173217172 [GRCh38]
Chr2:174081900 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1962T>C (p.Ser654=) |
single nucleotide variant |
not provided [RCV002129566] |
Chr2:173266309 [GRCh38]
Chr2:174131037 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.2147G>A (p.Arg716Lys) |
single nucleotide variant |
not provided [RCV002111645] |
Chr2:173266494 [GRCh38]
Chr2:174131222 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1640A>T (p.Gln547Leu) |
single nucleotide variant |
not provided [RCV002212120] |
Chr2:173263833 [GRCh38]
Chr2:174128561 [GRCh37]
Chr2:2q31.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_016653.3(MAP3K20):c.645T>C (p.Ala215=) |
single nucleotide variant |
not provided [RCV002187460] |
Chr2:173198088 [GRCh38]
Chr2:174062816 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1360-9del |
deletion |
not provided [RCV002087250] |
Chr2:173258686 [GRCh38]
Chr2:174123414 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.744+9A>G |
single nucleotide variant |
not provided [RCV002115613]|not specified [RCV003235675] |
Chr2:173203879 [GRCh38]
Chr2:174068607 [GRCh37]
Chr2:2q31.1 |
benign|uncertain significance |
| NM_016653.3(MAP3K20):c.745-14T>G |
single nucleotide variant |
not provided [RCV002166599] |
Chr2:173209715 [GRCh38]
Chr2:174074443 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.750G>T (p.Arg250=) |
single nucleotide variant |
not provided [RCV002092481] |
Chr2:173209734 [GRCh38]
Chr2:174074462 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1986C>T (p.Gly662=) |
single nucleotide variant |
not provided [RCV002134252] |
Chr2:173266333 [GRCh38]
Chr2:174131061 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_016653.3(MAP3K20):c.1703-4G>C |
single nucleotide variant |
not provided [RCV002127101] |
Chr2:173266046 [GRCh38]
Chr2:174130774 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.987+4066A>T |
single nucleotide variant |
not provided [RCV002214180] |
Chr2:173221316 [GRCh38]
Chr2:174086044 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2034G>A (p.Arg678=) |
single nucleotide variant |
not provided [RCV002196600] |
Chr2:173266381 [GRCh38]
Chr2:174131109 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.2293G>A (p.Glu765Lys) |
single nucleotide variant |
not provided [RCV002094267] |
Chr2:173266640 [GRCh38]
Chr2:174131368 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1359+8A>G |
single nucleotide variant |
not provided [RCV002144983] |
Chr2:173239504 [GRCh38]
Chr2:174104232 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.583-18A>G |
single nucleotide variant |
not provided [RCV002096944] |
Chr2:173198008 [GRCh38]
Chr2:174062736 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.2346C>T (p.Pro782=) |
single nucleotide variant |
not provided [RCV002133444] |
Chr2:173266693 [GRCh38]
Chr2:174131421 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1455G>A (p.Ala485=) |
single nucleotide variant |
not provided [RCV002113189] |
Chr2:173258794 [GRCh38]
Chr2:174123522 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.851+13G>A |
single nucleotide variant |
not provided [RCV002149835] |
Chr2:173209848 [GRCh38]
Chr2:174074576 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1360-14_1360-12del |
deletion |
not provided [RCV002121033] |
Chr2:173258683..173258685 [GRCh38]
Chr2:174123411..174123413 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1032+14A>C |
single nucleotide variant |
not provided [RCV002179165] |
Chr2:173229747 [GRCh38]
Chr2:174094475 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1064-17C>G |
single nucleotide variant |
not provided [RCV002201389] |
Chr2:173232303 [GRCh38]
Chr2:174097031 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.2184T>C (p.Pro728=) |
single nucleotide variant |
not provided [RCV002197914] |
Chr2:173266531 [GRCh38]
Chr2:174131259 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.987+15C>T |
single nucleotide variant |
not provided [RCV002176326] |
Chr2:173217265 [GRCh38]
Chr2:174081993 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1773C>T (p.Ser591=) |
single nucleotide variant |
not provided [RCV002142639] |
Chr2:173266120 [GRCh38]
Chr2:174130848 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.852-20C>A |
single nucleotide variant |
not provided [RCV002142660] |
Chr2:173217095 [GRCh38]
Chr2:174081823 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1204-17T>C |
single nucleotide variant |
not provided [RCV002154320] |
Chr2:173238356 [GRCh38]
Chr2:174103084 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.819T>C (p.Cys273=) |
single nucleotide variant |
not provided [RCV002143105] |
Chr2:173209803 [GRCh38]
Chr2:174074531 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1360-11_1360-9del |
deletion |
not provided [RCV002163877] |
Chr2:173258686..173258688 [GRCh38]
Chr2:174123414..174123416 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1552-18GTTT[2] |
microsatellite |
not provided [RCV002201236] |
Chr2:173263727..173263730 [GRCh38]
Chr2:174128455..174128458 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1914T>C (p.Pro638=) |
single nucleotide variant |
not provided [RCV002144067] |
Chr2:173266261 [GRCh38]
Chr2:174130989 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1063+12A>G |
single nucleotide variant |
not provided [RCV002139742] |
Chr2:173232234 [GRCh38]
Chr2:174096962 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.870T>C (p.Thr290=) |
single nucleotide variant |
not provided [RCV002122222] |
Chr2:173217133 [GRCh38]
Chr2:174081861 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1033-10T>C |
single nucleotide variant |
not provided [RCV002199513] |
Chr2:173232182 [GRCh38]
Chr2:174096910 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1833C>T (p.Tyr611=) |
single nucleotide variant |
not provided [RCV002081455] |
Chr2:173266180 [GRCh38]
Chr2:174130908 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1552-10G>A |
single nucleotide variant |
not provided [RCV002117816] |
Chr2:173263735 [GRCh38]
Chr2:174128463 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1695C>T (p.Ser565=) |
single nucleotide variant |
not provided [RCV002135878] |
Chr2:173263888 [GRCh38]
Chr2:174128616 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1204-6T>C |
single nucleotide variant |
MAP3K20-related condition [RCV003971115]|not provided [RCV002154279] |
Chr2:173238367 [GRCh38]
Chr2:174103095 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1204-5dup |
duplication |
not provided [RCV002102718] |
Chr2:173238360..173238361 [GRCh38]
Chr2:174103088..174103089 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1824G>A (p.Gln608=) |
single nucleotide variant |
not provided [RCV002220210] |
Chr2:173266171 [GRCh38]
Chr2:174130899 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.987+15C>G |
single nucleotide variant |
not provided [RCV002161312] |
Chr2:173217265 [GRCh38]
Chr2:174081993 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.967A>T (p.Thr323Ser) |
single nucleotide variant |
not provided [RCV003121875] |
Chr2:173217230 [GRCh38]
Chr2:174081958 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1592C>A (p.Ser531Ter) |
single nucleotide variant |
Split-foot malformation-mesoaxial polydactyly syndrome [RCV002279880] |
Chr2:173263785 [GRCh38]
Chr2:174128513 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_016653.3(MAP3K20):c.987+9C>T |
single nucleotide variant |
not provided [RCV002903065] |
Chr2:173217259 [GRCh38]
Chr2:174081987 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1894C>T (p.Gln632Ter) |
single nucleotide variant |
not provided [RCV003099107]|not specified [RCV002308527] |
Chr2:173266241 [GRCh38]
Chr2:174130969 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1812C>T (p.His604=) |
single nucleotide variant |
not provided [RCV002971033] |
Chr2:173266159 [GRCh38]
Chr2:174130887 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.1552-19C>T |
single nucleotide variant |
not provided [RCV002614708] |
Chr2:173263726 [GRCh38]
Chr2:174128454 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1523A>C (p.Gln508Pro) |
single nucleotide variant |
not provided [RCV002617028] |
Chr2:173261109 [GRCh38]
Chr2:174125837 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2130C>T (p.Tyr710=) |
single nucleotide variant |
not provided [RCV002681658] |
Chr2:173266477 [GRCh38]
Chr2:174131205 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.1083G>A (p.Met361Ile) |
single nucleotide variant |
not provided [RCV002618831] |
Chr2:173232339 [GRCh38]
Chr2:174097067 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1702+7_1702+10del |
deletion |
not provided [RCV002902996] |
Chr2:173263899..173263902 [GRCh38]
Chr2:174128627..174128630 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.2368G>T (p.Ala790Ser) |
single nucleotide variant |
not provided [RCV003014461] |
Chr2:173266715 [GRCh38]
Chr2:174131443 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1164C>G (p.Asp388Glu) |
single nucleotide variant |
not provided [RCV003074633] |
Chr2:173232420 [GRCh38]
Chr2:174097148 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2215C>T (p.Gln739Ter) |
single nucleotide variant |
not provided [RCV002681503] |
Chr2:173266562 [GRCh38]
Chr2:174131290 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.905G>A (p.Ser302Asn) |
single nucleotide variant |
not provided [RCV003097510] |
Chr2:173217168 [GRCh38]
Chr2:174081896 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1648A>T (p.Ile550Phe) |
single nucleotide variant |
not provided [RCV002819494] |
Chr2:173263841 [GRCh38]
Chr2:174128569 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1234A>G (p.Ile412Val) |
single nucleotide variant |
not provided [RCV002614647] |
Chr2:173238403 [GRCh38]
Chr2:174103131 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2068TCT[1] (p.Ser691del) |
microsatellite |
not provided [RCV002614025] |
Chr2:173266414..173266416 [GRCh38]
Chr2:174131142..174131144 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1653_1658del (p.Thr552_Leu553del) |
deletion |
not provided [RCV002662974] |
Chr2:173263846..173263851 [GRCh38]
Chr2:174128574..174128579 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1702A>G (p.Ser568Gly) |
single nucleotide variant |
not provided [RCV002622878] |
Chr2:173263895 [GRCh38]
Chr2:174128623 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.670-12_670-11delinsGC |
indel |
not provided [RCV002696284] |
Chr2:173203784..173203785 [GRCh38]
Chr2:174068512..174068513 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.669+12T>G |
single nucleotide variant |
not provided [RCV002593336] |
Chr2:173198124 [GRCh38]
Chr2:174062852 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NC_000002.12:g.173263743AG[1] |
microsatellite |
not provided [RCV002824681] |
Chr2:173263743..173263744 [GRCh38]
Chr2:174128471..174128472 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_016653.3(MAP3K20):c.1947C>T (p.Ser649=) |
single nucleotide variant |
not provided [RCV002593024] |
Chr2:173266294 [GRCh38]
Chr2:174131022 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1267-15G>T |
single nucleotide variant |
not provided [RCV002662881] |
Chr2:173239389 [GRCh38]
Chr2:174104117 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.801G>A (p.Thr267=) |
single nucleotide variant |
not provided [RCV002781143] |
Chr2:173209785 [GRCh38]
Chr2:174074513 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1528G>A (p.Val510Met) |
single nucleotide variant |
not provided [RCV002705572] |
Chr2:173261114 [GRCh38]
Chr2:174125842 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1087G>A (p.Val363Ile) |
single nucleotide variant |
not provided [RCV002909513] |
Chr2:173232343 [GRCh38]
Chr2:174097071 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1275A>G (p.Gly425=) |
single nucleotide variant |
not provided [RCV002796385] |
Chr2:173239412 [GRCh38]
Chr2:174104140 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1143G>A (p.Leu381=) |
single nucleotide variant |
not provided [RCV003078451] |
Chr2:173232399 [GRCh38]
Chr2:174097127 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.2181G>A (p.Ser727=) |
single nucleotide variant |
not provided [RCV002999198] |
Chr2:173266528 [GRCh38]
Chr2:174131256 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.1447C>A (p.Pro483Thr) |
single nucleotide variant |
not provided [RCV002640153] |
Chr2:173258786 [GRCh38]
Chr2:174123514 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1907C>T (p.Ser636Leu) |
single nucleotide variant |
not provided [RCV002639797] |
Chr2:173266254 [GRCh38]
Chr2:174130982 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1360-14_1360-11del |
deletion |
not provided [RCV002695205] |
Chr2:173258682..173258685 [GRCh38]
Chr2:174123410..174123413 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1000T>C (p.Phe334Leu) |
single nucleotide variant |
not provided [RCV002735756] |
Chr2:173229701 [GRCh38]
Chr2:174094429 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.852-14C>G |
single nucleotide variant |
not provided [RCV003018632] |
Chr2:173217101 [GRCh38]
Chr2:174081829 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2242T>C (p.Leu748=) |
single nucleotide variant |
not provided [RCV003077610] |
Chr2:173266589 [GRCh38]
Chr2:174131317 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2384G>A (p.Arg795His) |
single nucleotide variant |
not provided [RCV002913890] |
Chr2:173266731 [GRCh38]
Chr2:174131459 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1125G>A (p.Gly375=) |
single nucleotide variant |
not provided [RCV002866193] |
Chr2:173232381 [GRCh38]
Chr2:174097109 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.851+12C>T |
single nucleotide variant |
not provided [RCV002575660] |
Chr2:173209847 [GRCh38]
Chr2:174074575 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1476+16C>T |
single nucleotide variant |
not provided [RCV002575286] |
Chr2:173258831 [GRCh38]
Chr2:174123559 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1476+2T>A |
single nucleotide variant |
not provided [RCV002642240] |
Chr2:173258817 [GRCh38]
Chr2:174123545 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_016653.3(MAP3K20):c.1359+18T>C |
single nucleotide variant |
not provided [RCV002627268] |
Chr2:173239514 [GRCh38]
Chr2:174104242 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1063+2C>T |
single nucleotide variant |
not provided [RCV002596413] |
Chr2:173232224 [GRCh38]
Chr2:174096952 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.862G>A (p.Glu288Lys) |
single nucleotide variant |
not provided [RCV002932965] |
Chr2:173217125 [GRCh38]
Chr2:174081853 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.851+8G>A |
single nucleotide variant |
not provided [RCV002875951] |
Chr2:173209843 [GRCh38]
Chr2:174074571 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.1850G>T (p.Arg617Leu) |
single nucleotide variant |
not provided [RCV002828659] |
Chr2:173266197 [GRCh38]
Chr2:174130925 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.705T>C (p.Phe235=) |
single nucleotide variant |
not provided [RCV002663546] |
Chr2:173203831 [GRCh38]
Chr2:174068559 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1817A>G (p.Asp606Gly) |
single nucleotide variant |
not provided [RCV002740664] |
Chr2:173266164 [GRCh38]
Chr2:174130892 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1992T>G (p.Thr664=) |
single nucleotide variant |
not provided [RCV003042033] |
Chr2:173266339 [GRCh38]
Chr2:174131067 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.1032+10T>C |
single nucleotide variant |
not provided [RCV002800791] |
Chr2:173229743 [GRCh38]
Chr2:174094471 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.2336G>A (p.Arg779Lys) |
single nucleotide variant |
not provided [RCV002710077] |
Chr2:173266683 [GRCh38]
Chr2:174131411 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.619A>C (p.Lys207Gln) |
single nucleotide variant |
not provided [RCV002851620] |
Chr2:173198062 [GRCh38]
Chr2:174062790 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.948G>A (p.Lys316=) |
single nucleotide variant |
not provided [RCV002574445] |
Chr2:173217211 [GRCh38]
Chr2:174081939 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.670-4G>A |
single nucleotide variant |
not provided [RCV002623948] |
Chr2:173203792 [GRCh38]
Chr2:174068520 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1601G>A (p.Trp534Ter) |
single nucleotide variant |
not provided [RCV003023309] |
Chr2:173263794 [GRCh38]
Chr2:174128522 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_016653.3(MAP3K20):c.718C>T (p.His240Tyr) |
single nucleotide variant |
not provided [RCV002626293] |
Chr2:173203844 [GRCh38]
Chr2:174068572 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2170C>T (p.Pro724Ser) |
single nucleotide variant |
not provided [RCV002642538] |
Chr2:173266517 [GRCh38]
Chr2:174131245 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1064-6del |
deletion |
not provided [RCV002741258] |
Chr2:173232313 [GRCh38]
Chr2:174097041 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2079A>G (p.Arg693=) |
single nucleotide variant |
not provided [RCV002593479] |
Chr2:173266426 [GRCh38]
Chr2:174131154 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.744+10T>C |
single nucleotide variant |
not provided [RCV002700806] |
Chr2:173203880 [GRCh38]
Chr2:174068608 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.1800G>A (p.Pro600=) |
single nucleotide variant |
not provided [RCV002643360] |
Chr2:173266147 [GRCh38]
Chr2:174130875 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2377G>A (p.Asp793Asn) |
single nucleotide variant |
not provided [RCV002835381] |
Chr2:173266724 [GRCh38]
Chr2:174131452 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1061A>G (p.Lys354Arg) |
single nucleotide variant |
not provided [RCV002631031] |
Chr2:173232220 [GRCh38]
Chr2:174096948 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1454C>T (p.Ala485Val) |
single nucleotide variant |
not provided [RCV002578320] |
Chr2:173258793 [GRCh38]
Chr2:174123521 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1629G>T (p.Val543=) |
single nucleotide variant |
not provided [RCV002579044] |
Chr2:173263822 [GRCh38]
Chr2:174128550 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.664A>G (p.Asn222Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002718558] |
Chr2:173198107 [GRCh38]
Chr2:174062835 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1284T>A (p.Pro428=) |
single nucleotide variant |
not provided [RCV002834722] |
Chr2:173239421 [GRCh38]
Chr2:174104149 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.752C>G (p.Pro251Arg) |
single nucleotide variant |
not provided [RCV002629590] |
Chr2:173209736 [GRCh38]
Chr2:174074464 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1739G>C (p.Arg580Pro) |
single nucleotide variant |
not provided [RCV002811815] |
Chr2:173266086 [GRCh38]
Chr2:174130814 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1068C>G (p.Asp356Glu) |
single nucleotide variant |
not provided [RCV002631468] |
Chr2:173232324 [GRCh38]
Chr2:174097052 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1924G>A (p.Gly642Arg) |
single nucleotide variant |
not provided [RCV002835163] |
Chr2:173266271 [GRCh38]
Chr2:174130999 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.682C>T (p.Pro228Ser) |
single nucleotide variant |
not provided [RCV002857665] |
Chr2:173203808 [GRCh38]
Chr2:174068536 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.893A>G (p.Glu298Gly) |
single nucleotide variant |
not provided [RCV002833436] |
Chr2:173217156 [GRCh38]
Chr2:174081884 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1277G>A (p.Gly426Asp) |
single nucleotide variant |
not provided [RCV002581339] |
Chr2:173239414 [GRCh38]
Chr2:174104142 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2314G>A (p.Glu772Lys) |
single nucleotide variant |
not provided [RCV002746528] |
Chr2:173266661 [GRCh38]
Chr2:174131389 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1703-4G>A |
single nucleotide variant |
not provided [RCV002601552] |
Chr2:173266046 [GRCh38]
Chr2:174130774 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1020G>A (p.Thr340=) |
single nucleotide variant |
not provided [RCV002599779] |
Chr2:173229721 [GRCh38]
Chr2:174094449 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.2340A>G (p.Pro780=) |
single nucleotide variant |
not provided [RCV002578938] |
Chr2:173266687 [GRCh38]
Chr2:174131415 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1703-5C>T |
single nucleotide variant |
not provided [RCV002671013] |
Chr2:173266045 [GRCh38]
Chr2:174130773 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1214A>G (p.Glu405Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002599012]|not provided [RCV002588223] |
Chr2:173238383 [GRCh38]
Chr2:174103111 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1502T>C (p.Ile501Thr) |
single nucleotide variant |
not provided [RCV002671241] |
Chr2:173261088 [GRCh38]
Chr2:174125816 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1203+16A>C |
single nucleotide variant |
not provided [RCV003028579] |
Chr2:173232475 [GRCh38]
Chr2:174097203 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1702+7dup |
duplication |
not provided [RCV003029563] |
Chr2:173263900..173263901 [GRCh38]
Chr2:174128628..174128629 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2145C>T (p.Tyr715=) |
single nucleotide variant |
not provided [RCV002628788] |
Chr2:173266492 [GRCh38]
Chr2:174131220 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1204-15T>C |
single nucleotide variant |
not provided [RCV002601420] |
Chr2:173238358 [GRCh38]
Chr2:174103086 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1461T>C (p.Ile487=) |
single nucleotide variant |
not provided [RCV002806184] |
Chr2:173258800 [GRCh38]
Chr2:174123528 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2066A>T (p.Asn689Ile) |
single nucleotide variant |
not provided [RCV002631032] |
Chr2:173266413 [GRCh38]
Chr2:174131141 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1538C>T (p.Thr513Ile) |
single nucleotide variant |
not provided [RCV002676392] |
Chr2:173261124 [GRCh38]
Chr2:174125852 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2048G>A (p.Arg683His) |
single nucleotide variant |
not provided [RCV003068405] |
Chr2:173266395 [GRCh38]
Chr2:174131123 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1799C>T (p.Pro600Leu) |
single nucleotide variant |
not provided [RCV002605599] |
Chr2:173266146 [GRCh38]
Chr2:174130874 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.971A>C (p.Glu324Ala) |
single nucleotide variant |
not provided [RCV002657836] |
Chr2:173217234 [GRCh38]
Chr2:174081962 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1908G>A (p.Ser636=) |
single nucleotide variant |
not provided [RCV002608251] |
Chr2:173266255 [GRCh38]
Chr2:174130983 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_016653.3(MAP3K20):c.1552-15del |
deletion |
not provided [RCV003066271] |
Chr2:173263728 [GRCh38]
Chr2:174128456 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.2292C>T (p.Ser764=) |
single nucleotide variant |
not provided [RCV002658455] |
Chr2:173266639 [GRCh38]
Chr2:174131367 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.988-3C>T |
single nucleotide variant |
not provided [RCV003071644] |
Chr2:173229686 [GRCh38]
Chr2:174094414 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1768C>T (p.Arg590Cys) |
single nucleotide variant |
not provided [RCV002587221] |
Chr2:173266115 [GRCh38]
Chr2:174130843 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1063+19C>T |
single nucleotide variant |
not provided [RCV002587377] |
Chr2:173232241 [GRCh38]
Chr2:174096969 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.745-7T>C |
single nucleotide variant |
not provided [RCV002676829] |
Chr2:173209722 [GRCh38]
Chr2:174074450 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1740G>A (p.Arg580=) |
single nucleotide variant |
not provided [RCV002611535] |
Chr2:173266087 [GRCh38]
Chr2:174130815 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1952A>G (p.His651Arg) |
single nucleotide variant |
not provided [RCV003067369] |
Chr2:173266299 [GRCh38]
Chr2:174131027 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1026C>T (p.Asp342=) |
single nucleotide variant |
not provided [RCV003873834] |
Chr2:173229727 [GRCh38]
Chr2:174094455 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.987+4003G>A |
single nucleotide variant |
not provided [RCV003436250] |
Chr2:173221253 [GRCh38]
Chr2:174085981 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1702+16C>T |
single nucleotide variant |
not provided [RCV003828465] |
Chr2:173263911 [GRCh38]
Chr2:174128639 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1360-9T>A |
single nucleotide variant |
not provided [RCV003661805] |
Chr2:173258690 [GRCh38]
Chr2:174123418 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1404T>C (p.Ile468=) |
single nucleotide variant |
not provided [RCV003829926] |
Chr2:173258743 [GRCh38]
Chr2:174123471 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1632A>G (p.Lys544=) |
single nucleotide variant |
not provided [RCV003662284] |
Chr2:173263825 [GRCh38]
Chr2:174128553 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1296G>A (p.Glu432=) |
single nucleotide variant |
not provided [RCV003712724] |
Chr2:173239433 [GRCh38]
Chr2:174104161 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.744+11G>A |
single nucleotide variant |
not provided [RCV003664299] |
Chr2:173203881 [GRCh38]
Chr2:174068609 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.882A>G (p.Leu294=) |
single nucleotide variant |
not provided [RCV003697909] |
Chr2:173217145 [GRCh38]
Chr2:174081873 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.2283C>T (p.Ser761=) |
single nucleotide variant |
not provided [RCV003665144] |
Chr2:173266630 [GRCh38]
Chr2:174131358 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.744+18T>C |
single nucleotide variant |
not provided [RCV003670218] |
Chr2:173203888 [GRCh38]
Chr2:174068616 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1089A>G (p.Val363=) |
single nucleotide variant |
not provided [RCV003813834] |
Chr2:173232345 [GRCh38]
Chr2:174097073 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.867A>T (p.Ala289=) |
single nucleotide variant |
not provided [RCV003855670] |
Chr2:173217130 [GRCh38]
Chr2:174081858 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.588C>T (p.Leu196=) |
single nucleotide variant |
not provided [RCV003850943] |
Chr2:173198031 [GRCh38]
Chr2:174062759 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1267-14G>A |
single nucleotide variant |
not provided [RCV003580798] |
Chr2:173239390 [GRCh38]
Chr2:174104118 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1821C>T (p.Gly607=) |
single nucleotide variant |
not provided [RCV003559809] |
Chr2:173266168 [GRCh38]
Chr2:174130896 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1560T>C (p.Val520=) |
single nucleotide variant |
not provided [RCV003668588] |
Chr2:173263753 [GRCh38]
Chr2:174128481 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1703-15C>A |
single nucleotide variant |
not provided [RCV003708218] |
Chr2:173266035 [GRCh38]
Chr2:174130763 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.852-20C>T |
single nucleotide variant |
not provided [RCV003823458] |
Chr2:173217095 [GRCh38]
Chr2:174081823 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1703-14C>A |
single nucleotide variant |
not provided [RCV003866298] |
Chr2:173266036 [GRCh38]
Chr2:174130764 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1360-15T>C |
single nucleotide variant |
not provided [RCV003857982] |
Chr2:173258684 [GRCh38]
Chr2:174123412 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.736G>A (p.Asp246Asn) |
single nucleotide variant |
not provided [RCV003677822] |
Chr2:173203862 [GRCh38]
Chr2:174068590 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.583-4C>A |
single nucleotide variant |
not provided [RCV003679587] |
Chr2:173198022 [GRCh38]
Chr2:174062750 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1005G>A (p.Glu335=) |
single nucleotide variant |
not provided [RCV003818233] |
Chr2:173229706 [GRCh38]
Chr2:174094434 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.600A>G (p.Leu200=) |
single nucleotide variant |
not provided [RCV003737599] |
Chr2:173198043 [GRCh38]
Chr2:174062771 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1849C>A (p.Arg617=) |
single nucleotide variant |
not provided [RCV003735649] |
Chr2:173266196 [GRCh38]
Chr2:174130924 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1218A>G (p.Lys406=) |
single nucleotide variant |
not provided [RCV003720034] |
Chr2:173238387 [GRCh38]
Chr2:174103115 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1703-9C>A |
single nucleotide variant |
not provided [RCV003868327] |
Chr2:173266041 [GRCh38]
Chr2:174130769 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.669+9A>G |
single nucleotide variant |
not provided [RCV003823545] |
Chr2:173198121 [GRCh38]
Chr2:174062849 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.583-11T>G |
single nucleotide variant |
not provided [RCV003823695] |
Chr2:173198015 [GRCh38]
Chr2:174062743 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1593G>A (p.Ser531=) |
single nucleotide variant |
not provided [RCV003848293] |
Chr2:173263786 [GRCh38]
Chr2:174128514 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.2065A>G (p.Asn689Asp) |
single nucleotide variant |
not provided [RCV003731976] |
Chr2:173266412 [GRCh38]
Chr2:174131140 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_016653.3(MAP3K20):c.1148A>G (p.Glu383Gly) |
single nucleotide variant |
not provided [RCV003710753] |
Chr2:173232404 [GRCh38]
Chr2:174097132 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_016653.3(MAP3K20):c.1545A>G (p.Thr515=) |
single nucleotide variant |
not provided [RCV003553888] |
Chr2:173261131 [GRCh38]
Chr2:174125859 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.918G>A (p.Gln306=) |
single nucleotide variant |
not provided [RCV003861677] |
Chr2:173217181 [GRCh38]
Chr2:174081909 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.987+4224GAT[6] |
microsatellite |
MAP3K20-related condition [RCV003907018] |
Chr2:173221473..173221474 [GRCh38]
Chr2:174086201..174086202 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.987+3977G>A |
single nucleotide variant |
MAP3K20-related condition [RCV003979655] |
Chr2:173221227 [GRCh38]
Chr2:174085955 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_016653.3(MAP3K20):c.1770T>C (p.Arg590=) |
single nucleotide variant |
not provided [RCV003725672] |
Chr2:173266117 [GRCh38]
Chr2:174130845 [GRCh37]
Chr2:2q31.1 |
likely benign |
