NM_005456.4(MAPK8IP1):c.176G>A (p.Ser59Asn) |
single nucleotide variant |
Diabetes mellitus type 2, susceptibility to [RCV000005752] |
Chr11:45898159 [GRCh38] Chr11:45919710 [GRCh37] Chr11:11p11.2 |
pathogenic|risk factor |
Single allele |
deletion |
Intellectual disability [RCV001293382] |
Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 |
copy number loss |
See cases [RCV000052679] |
Chr11:35663578..46959820 [GRCh38] Chr11:35685126..46981371 [GRCh37] Chr11:35641702..46937947 [NCBI36] Chr11:11p13-11.2 |
pathogenic |
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] |
Chr11:36508280..48643003 [GRCh38] Chr11:36529830..48664555 [GRCh37] Chr11:36486406..48621131 [NCBI36] Chr11:11p12-11.2 |
pathogenic |
GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1 |
copy number loss |
See cases [RCV000052681] |
Chr11:44136593..46121139 [GRCh38] Chr11:44158143..46142690 [GRCh37] Chr11:44114719..46099266 [NCBI36] Chr11:11p11.2 |
pathogenic |
NM_005456.3(MAPK8IP1):c.1395G>T (p.Met465Ile) |
single nucleotide variant |
Malignant melanoma [RCV000062218] |
Chr11:45903162 [GRCh38] Chr11:45924713 [GRCh37] Chr11:45881289 [NCBI36] Chr11:11p11.2 |
not provided |
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 |
copy number loss |
See cases [RCV000135405] |
Chr11:41118322..48643003 [GRCh38] Chr11:41139872..48664555 [GRCh37] Chr11:41096448..48621131 [NCBI36] Chr11:11p12-11.2 |
pathogenic |
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 |
copy number loss |
See cases [RCV000137391] |
Chr11:39179252..49135735 [GRCh38] Chr11:39200802..49157287 [GRCh37] Chr11:39157378..49113863 [NCBI36] Chr11:11p12-11.12 |
pathogenic |
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 |
copy number gain |
See cases [RCV000139422] |
Chr11:42727555..49135735 [GRCh38] Chr11:42749105..49157287 [GRCh37] Chr11:42705681..49113863 [NCBI36] Chr11:11p12-11.12 |
likely pathogenic |
GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1 |
copy number loss |
See cases [RCV000142289] |
Chr11:42553659..46114792 [GRCh38] Chr11:42575209..46136343 [GRCh37] Chr11:42531785..46092919 [NCBI36] Chr11:11p12-11.2 |
pathogenic |
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 |
copy number loss |
See cases [RCV000446383] |
Chr11:42475897..48372559 [GRCh37] Chr11:11p12-11.2 |
pathogenic |
GRCh37/hg19 11p11.2(chr11:45873733-46409298)x1 |
copy number loss |
See cases [RCV000446153] |
Chr11:45873733..46409298 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 |
copy number gain |
See cases [RCV000448603] |
Chr11:26574629..50508019 [GRCh37] Chr11:11p14.2-11.12 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_005456.4(MAPK8IP1):c.464C>T (p.Thr155Met) |
single nucleotide variant |
not specified [RCV004317588] |
Chr11:45900394 [GRCh38] Chr11:45921945 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.224T>C (p.Leu75Pro) |
single nucleotide variant |
not specified [RCV004288681] |
Chr11:45900154 [GRCh38] Chr11:45921705 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1909C>T (p.His637Tyr) |
single nucleotide variant |
not specified [RCV004325418] |
Chr11:45904986 [GRCh38] Chr11:45926537 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.934G>A (p.Asp312Asn) |
single nucleotide variant |
not specified [RCV004293796] |
Chr11:45902701 [GRCh38] Chr11:45924252 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.781C>T (p.His261Tyr) |
single nucleotide variant |
not specified [RCV004295496] |
Chr11:45902548 [GRCh38] Chr11:45924099 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p11.2(chr11:45229091-46342834)x3 |
copy number gain |
not provided [RCV000750026] |
Chr11:45229091..46342834 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1058G>A (p.Arg353Gln) |
single nucleotide variant |
not provided [RCV000906597] |
Chr11:45902825 [GRCh38] Chr11:45924376 [GRCh37] Chr11:11p11.2 |
benign |
NM_005456.4(MAPK8IP1):c.1344G>A (p.Thr448=) |
single nucleotide variant |
not provided [RCV000892471] |
Chr11:45903111 [GRCh38] Chr11:45924662 [GRCh37] Chr11:11p11.2 |
benign |
NM_005456.4(MAPK8IP1):c.19G>C (p.Gly7Arg) |
single nucleotide variant |
not specified [RCV004307279] |
Chr11:45885839 [GRCh38] Chr11:45907390 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NC_000011.10:g.(?_45805782)_(45910982_?)dup |
duplication |
Leukocyte adhesion deficiency type II [RCV001032981] |
Chr11:45827333..45932533 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4 |
copy number gain |
not provided [RCV001259092] |
Chr11:44266593..46123796 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NC_000011.9:g.(?_45827353)_(47804770_?)dup |
duplication |
Leukocyte adhesion deficiency type II [RCV001296459] |
Chr11:45827353..47804770 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.715C>T (p.Arg239Cys) |
single nucleotide variant |
not provided [RCV001355943]|not specified [RCV004935201] |
Chr11:45902482 [GRCh38] Chr11:45924033 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.236GCG[5] (p.Gly82dup) |
microsatellite |
not provided [RCV001358401] |
Chr11:45900164..45900165 [GRCh38] Chr11:45921715..45921716 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NC_000011.9:g.(?_45827353)_(45932533_?)dup |
duplication |
Peroxisome biogenesis disorder [RCV002025400] |
Chr11:45827353..45932533 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1 |
copy number loss |
not provided [RCV001836486] |
Chr11:40117145..46920718 [GRCh37] Chr11:11p12-11.2 |
pathogenic |
NC_000011.9:g.(?_45827353)_(46401497_?)del |
deletion |
Peroxisome biogenesis disorder [RCV001953896] |
Chr11:45827353..46401497 [GRCh37] Chr11:11p11.2 |
pathogenic |
NC_000011.9:g.(?_45827353)_(47804770_?)del |
deletion |
Leukocyte adhesion deficiency type II [RCV003119908] |
Chr11:45827353..47804770 [GRCh37] Chr11:11p11.2 |
pathogenic |
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 |
copy number gain |
See cases [RCV002286338] |
Chr11:51581311..54891247 [GRCh37] Chr11:11p11.2-q12.2 |
pathogenic |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 |
copy number gain |
MISSED ABORTION [RCV002282973] |
Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
NM_005456.4(MAPK8IP1):c.1237T>C (p.Tyr413His) |
single nucleotide variant |
not specified [RCV004316901] |
Chr11:45903004 [GRCh38] Chr11:45924555 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.52G>C (p.Ala18Pro) |
single nucleotide variant |
not specified [RCV004321089] |
Chr11:45885872 [GRCh38] Chr11:45907423 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.32G>C (p.Gly11Ala) |
single nucleotide variant |
not specified [RCV004086743] |
Chr11:45885852 [GRCh38] Chr11:45907403 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.659A>C (p.Gln220Pro) |
single nucleotide variant |
not specified [RCV004212889] |
Chr11:45902426 [GRCh38] Chr11:45923977 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1360G>A (p.Val454Ile) |
single nucleotide variant |
not specified [RCV004239204] |
Chr11:45903127 [GRCh38] Chr11:45924678 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.209C>T (p.Pro70Leu) |
single nucleotide variant |
not specified [RCV004146283] |
Chr11:45900139 [GRCh38] Chr11:45921690 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.227T>C (p.Leu76Pro) |
single nucleotide variant |
not specified [RCV004190970] |
Chr11:45900157 [GRCh38] Chr11:45921708 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.330G>C (p.Glu110Asp) |
single nucleotide variant |
not specified [RCV004239488] |
Chr11:45900260 [GRCh38] Chr11:45921811 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1090C>T (p.Arg364Trp) |
single nucleotide variant |
not specified [RCV004082497] |
Chr11:45902857 [GRCh38] Chr11:45924408 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.82G>C (p.Ala28Pro) |
single nucleotide variant |
not specified [RCV004160540] |
Chr11:45885902 [GRCh38] Chr11:45907453 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.581G>A (p.Arg194Gln) |
single nucleotide variant |
not specified [RCV004112215] |
Chr11:45902038 [GRCh38] Chr11:45923589 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.673C>T (p.Pro225Ser) |
single nucleotide variant |
not specified [RCV004153039] |
Chr11:45902440 [GRCh38] Chr11:45923991 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.556C>T (p.His186Tyr) |
single nucleotide variant |
not specified [RCV004166104] |
Chr11:45902013 [GRCh38] Chr11:45923564 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1238A>G (p.Tyr413Cys) |
single nucleotide variant |
not specified [RCV004172601] |
Chr11:45903005 [GRCh38] Chr11:45924556 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.686G>A (p.Arg229Gln) |
single nucleotide variant |
not specified [RCV004229409] |
Chr11:45902453 [GRCh38] Chr11:45924004 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1201G>A (p.Gly401Arg) |
single nucleotide variant |
not specified [RCV004082985] |
Chr11:45902968 [GRCh38] Chr11:45924519 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1081C>T (p.Pro361Ser) |
single nucleotide variant |
not specified [RCV004115908] |
Chr11:45902848 [GRCh38] Chr11:45924399 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1744G>A (p.Gly582Ser) |
single nucleotide variant |
not specified [RCV004182954] |
Chr11:45904532 [GRCh38] Chr11:45926083 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1117G>A (p.Ala373Thr) |
single nucleotide variant |
not specified [RCV004278932] |
Chr11:45902884 [GRCh38] Chr11:45924435 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.713G>A (p.Arg238His) |
single nucleotide variant |
not specified [RCV004256245] |
Chr11:45902480 [GRCh38] Chr11:45924031 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.658C>G (p.Gln220Glu) |
single nucleotide variant |
not specified [RCV004255297] |
Chr11:45902425 [GRCh38] Chr11:45923976 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1703G>A (p.Arg568Gln) |
single nucleotide variant |
not specified [RCV004258221] |
Chr11:45904491 [GRCh38] Chr11:45926042 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1190G>A (p.Arg397Gln) |
single nucleotide variant |
not specified [RCV004341108] |
Chr11:45902957 [GRCh38] Chr11:45924508 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1402C>T (p.Arg468Cys) |
single nucleotide variant |
not specified [RCV004341930] |
Chr11:45903169 [GRCh38] Chr11:45924720 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p11.2(chr11:45804897-45930554)x3 |
copy number gain |
not provided [RCV003484839] |
Chr11:45804897..45930554 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1666+5T>C |
single nucleotide variant |
Type 2 diabetes mellitus [RCV003448633] |
Chr11:45904166 [GRCh38] Chr11:45925717 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p11.2(chr11:45810101-45930554)x3 |
copy number gain |
not specified [RCV003986924] |
Chr11:45810101..45930554 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.375G>T (p.Gly125=) |
single nucleotide variant |
MAPK8IP1-related disorder [RCV003899733] |
Chr11:45900305 [GRCh38] Chr11:45921856 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_005456.4(MAPK8IP1):c.1020G>A (p.Ser340=) |
single nucleotide variant |
MAPK8IP1-related disorder [RCV003951559] |
Chr11:45902787 [GRCh38] Chr11:45924338 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_005456.4(MAPK8IP1):c.1057C>A (p.Arg353=) |
single nucleotide variant |
MAPK8IP1-related disorder [RCV003961612] |
Chr11:45902824 [GRCh38] Chr11:45924375 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_005456.4(MAPK8IP1):c.-5C>T |
single nucleotide variant |
MAPK8IP1-related disorder [RCV003959561] |
Chr11:45885816 [GRCh38] Chr11:45907367 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_005456.4(MAPK8IP1):c.267C>T (p.Ala89=) |
single nucleotide variant |
MAPK8IP1-related disorder [RCV003893975] |
Chr11:45900197 [GRCh38] Chr11:45921748 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_005456.4(MAPK8IP1):c.1019C>T (p.Ser340Leu) |
single nucleotide variant |
not specified [RCV004408668] |
Chr11:45902786 [GRCh38] Chr11:45924337 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1064G>C (p.Ser355Thr) |
single nucleotide variant |
not specified [RCV004408669] |
Chr11:45902831 [GRCh38] Chr11:45924382 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1262C>T (p.Ser421Leu) |
single nucleotide variant |
not specified [RCV004408671] |
Chr11:45903029 [GRCh38] Chr11:45924580 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1636G>A (p.Glu546Lys) |
single nucleotide variant |
not specified [RCV004408673] |
Chr11:45904131 [GRCh38] Chr11:45925682 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1702C>T (p.Arg568Trp) |
single nucleotide variant |
not specified [RCV004408674] |
Chr11:45904490 [GRCh38] Chr11:45926041 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.365C>T (p.Pro122Leu) |
single nucleotide variant |
not specified [RCV004408675] |
Chr11:45900295 [GRCh38] Chr11:45921846 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.392C>G (p.Ser131Cys) |
single nucleotide variant |
not specified [RCV004408676] |
Chr11:45900322 [GRCh38] Chr11:45921873 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.476A>G (p.Lys159Arg) |
single nucleotide variant |
not specified [RCV004408677] |
Chr11:45900406 [GRCh38] Chr11:45921957 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.665G>A (p.Gly222Asp) |
single nucleotide variant |
not specified [RCV004408679] |
Chr11:45902432 [GRCh38] Chr11:45923983 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.716G>A (p.Arg239His) |
single nucleotide variant |
not specified [RCV004408680] |
Chr11:45902483 [GRCh38] Chr11:45924034 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.88C>T (p.Pro30Ser) |
single nucleotide variant |
not specified [RCV004408681] |
Chr11:45885908 [GRCh38] Chr11:45907459 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.926T>C (p.Val309Ala) |
single nucleotide variant |
not specified [RCV004408682] |
Chr11:45902693 [GRCh38] Chr11:45924244 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.614C>T (p.Thr205Ile) |
single nucleotide variant |
not specified [RCV004643009] |
Chr11:45902381 [GRCh38] Chr11:45923932 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.785C>T (p.Ser262Leu) |
single nucleotide variant |
not specified [RCV004643015] |
Chr11:45902552 [GRCh38] Chr11:45924103 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.653C>T (p.Pro218Leu) |
single nucleotide variant |
not specified [RCV004643011] |
Chr11:45902420 [GRCh38] Chr11:45923971 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1847G>A (p.Arg616Gln) |
single nucleotide variant |
not specified [RCV004643014] |
Chr11:45904788 [GRCh38] Chr11:45926339 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.611A>C (p.Gln204Pro) |
single nucleotide variant |
not specified [RCV004643010] |
Chr11:45902378 [GRCh38] Chr11:45923929 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.206G>A (p.Arg69Gln) |
single nucleotide variant |
not specified [RCV004636544] |
Chr11:45898189 [GRCh38] Chr11:45919740 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.829G>A (p.Ala277Thr) |
single nucleotide variant |
not specified [RCV004643012] |
Chr11:45902596 [GRCh38] Chr11:45924147 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.493A>G (p.Asn165Asp) |
single nucleotide variant |
not specified [RCV004940635] |
Chr11:45900423 [GRCh38] Chr11:45921974 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.398A>T (p.Gln133Leu) |
single nucleotide variant |
not specified [RCV004940636] |
Chr11:45900328 [GRCh38] Chr11:45921879 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1189C>T (p.Arg397Trp) |
single nucleotide variant |
not specified [RCV004940633] |
Chr11:45902956 [GRCh38] Chr11:45924507 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1204G>A (p.Asp402Asn) |
single nucleotide variant |
not specified [RCV004940634] |
Chr11:45902971 [GRCh38] Chr11:45924522 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.767C>T (p.Pro256Leu) |
single nucleotide variant |
not specified [RCV004940637] |
Chr11:45902534 [GRCh38] Chr11:45924085 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1057C>T (p.Arg353Trp) |
single nucleotide variant |
not specified [RCV004940640] |
Chr11:45902824 [GRCh38] Chr11:45924375 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.869C>A (p.Pro290Gln) |
single nucleotide variant |
not specified [RCV004940639] |
Chr11:45902636 [GRCh38] Chr11:45924187 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1274C>T (p.Ser425Leu) |
single nucleotide variant |
not specified [RCV004940638] |
Chr11:45903041 [GRCh38] Chr11:45924592 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.223C>G (p.Leu75Val) |
single nucleotide variant |
not specified [RCV004940631] |
Chr11:45900153 [GRCh38] Chr11:45921704 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.349C>T (p.Arg117Cys) |
single nucleotide variant |
not specified [RCV004940641] |
Chr11:45900279 [GRCh38] Chr11:45921830 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1879T>G (p.Ser627Ala) |
single nucleotide variant |
not specified [RCV004940642] |
Chr11:45904820 [GRCh38] Chr11:45926371 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.712C>T (p.Arg238Cys) |
single nucleotide variant |
not specified [RCV004940632] |
Chr11:45902479 [GRCh38] Chr11:45924030 [GRCh37] Chr11:11p11.2 |
uncertain significance |