GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 |
copy number gain |
See cases [RCV000134948] |
Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29 |
pathogenic |
NM_001276270.2(MBD4):c.1684G>C (p.Asp562His) |
single nucleotide variant |
not provided [RCV002515499]|not specified [RCV000202869] |
Chr3:129431542 [GRCh38] Chr3:129150385 [GRCh37] Chr3:3q21.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 |
copy number gain |
See cases [RCV000142010] |
Chr3:126106779..140918089 [GRCh38] Chr3:125825622..140636931 [GRCh37] Chr3:127308312..142119621 [NCBI36] Chr3:3q21.3-23 |
uncertain significance |
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 |
copy number gain |
See cases [RCV000142340] |
Chr3:93800620..145695381 [GRCh38] Chr3:93519464..145413168 [GRCh37] Chr3:95002154..146895858 [NCBI36] Chr3:3q11.1-24 |
pathogenic |
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1 |
copy number loss |
See cases [RCV000142787] |
Chr3:127607945..133566661 [GRCh38] Chr3:127326788..133285505 [GRCh37] Chr3:128809478..134768195 [NCBI36] Chr3:3q21.3-22.1 |
likely pathogenic |
NM_001276270.2(MBD4):c.1271C>G (p.Pro424Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003268405]|not provided [RCV003661032] |
Chr3:129433972 [GRCh38] Chr3:129152815 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.839A>T (p.Gln280Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003251958] |
Chr3:129436805 [GRCh38] Chr3:129155648 [GRCh37] Chr3:3q21.3 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1 |
copy number loss |
not provided [RCV000682304] |
Chr3:128660985..129811200 [GRCh37] Chr3:3q21.3-22.1 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3q21.3-22.1(chr3:129099946-129212271)x1 |
copy number loss |
not provided [RCV000742788] |
Chr3:129099946..129212271 [GRCh37] Chr3:3q21.3-22.1 |
benign |
NM_001276270.2(MBD4):c.1393+109G>A |
single nucleotide variant |
not provided [RCV001689551] |
Chr3:129433741 [GRCh38] Chr3:129152584 [GRCh37] Chr3:3q21.3 |
benign |
NM_001276270.2(MBD4):c.1024T>C (p.Ser342Pro) |
single nucleotide variant |
MBD4-related disorder [RCV003968464]|not provided [RCV001679675] |
Chr3:129436620 [GRCh38] Chr3:129155463 [GRCh37] Chr3:3q21.3 |
benign |
NM_001276270.2(MBD4):c.1590G>A (p.Gly530=) |
single nucleotide variant |
MBD4-related disorder [RCV003968191]|not provided [RCV000895988] |
Chr3:129432560 [GRCh38] Chr3:129151403 [GRCh37] Chr3:3q21.3 |
benign |
NM_001276270.2(MBD4):c.1272A>G (p.Pro424=) |
single nucleotide variant |
not provided [RCV000899304] |
Chr3:129433971 [GRCh38] Chr3:129152814 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.336-180A>T |
single nucleotide variant |
not provided [RCV001638615] |
Chr3:129437488 [GRCh38] Chr3:129156331 [GRCh37] Chr3:3q21.3 |
benign |
Single allele |
deletion |
Deafness-lymphedema-leukemia syndrome [RCV001541925] |
Chr3:127966423..136853218 [GRCh37] Chr3:3q21.3-22.3 |
pathogenic |
NM_001276270.2(MBD4):c.1543+14C>T |
single nucleotide variant |
not provided [RCV001638351] |
Chr3:129433084 [GRCh38] Chr3:129151927 [GRCh37] Chr3:3q21.3 |
benign |
NC_000003.11:g.(?_126707437)_(130720194_?)dup |
duplication |
Deafness-lymphedema-leukemia syndrome [RCV003113323]|not provided [RCV003107782] |
Chr3:126707437..130720194 [GRCh37] Chr3:3q21.3-22.1 |
uncertain significance|no classifications from unflagged records |
NC_000003.12:g.(?_129170453)_(129551340_?)dup |
duplication |
not provided [RCV001031235] |
Chr3:128889296..129270183 [GRCh37] Chr3:3q21.3-22.1 |
uncertain significance |
NM_001276270.2(MBD4):c.335+27T>C |
single nucleotide variant |
not provided [RCV001656642] |
Chr3:129437693 [GRCh38] Chr3:129156536 [GRCh37] Chr3:3q21.3 |
benign |
NM_001276270.2(MBD4):c.1394-140G>A |
single nucleotide variant |
not provided [RCV001720794] |
Chr3:129433387 [GRCh38] Chr3:129152230 [GRCh37] Chr3:3q21.3 |
benign |
NM_001276270.2(MBD4):c.817G>A (p.Ala273Thr) |
single nucleotide variant |
not provided [RCV001639267] |
Chr3:129436827 [GRCh38] Chr3:129155670 [GRCh37] Chr3:3q21.3 |
benign |
NM_001276270.2(MBD4):c.1036G>A (p.Glu346Lys) |
single nucleotide variant |
not provided [RCV001670317] |
Chr3:129436608 [GRCh38] Chr3:129155451 [GRCh37] Chr3:3q21.3 |
benign |
NM_001276270.2(MBD4):c.1395C>T (p.Gly465=) |
single nucleotide variant |
not provided [RCV001667550] |
Chr3:129433246 [GRCh38] Chr3:129152089 [GRCh37] Chr3:3q21.3 |
benign |
NM_001276270.2(MBD4):c.1394-54A>G |
single nucleotide variant |
not provided [RCV001714831] |
Chr3:129433301 [GRCh38] Chr3:129152144 [GRCh37] Chr3:3q21.3 |
benign |
NM_001276270.2(MBD4):c.1544-218T>C |
single nucleotide variant |
not provided [RCV001665653] |
Chr3:129432824 [GRCh38] Chr3:129151667 [GRCh37] Chr3:3q21.3 |
benign |
NM_001276270.2(MBD4):c.1555A>C (p.Thr519Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV001266865] |
Chr3:129432595 [GRCh38] Chr3:129151438 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1387A>G (p.Thr463Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV001266531]|not provided [RCV003669222] |
Chr3:129433856 [GRCh38] Chr3:129152699 [GRCh37] Chr3:3q21.3 |
uncertain significance |
Single allele |
deletion |
Deafness-lymphedema-leukemia syndrome [RCV001541926] |
Chr3:123000000..129700000 [GRCh37] Chr3:3q21.1-22.1 |
pathogenic |
NM_001276270.2(MBD4):c.1184-57C>G |
single nucleotide variant |
not provided [RCV001670889] |
Chr3:129434193 [GRCh38] Chr3:129153036 [GRCh37] Chr3:3q21.3 |
benign |
NM_001276270.2(MBD4):c.1648-173T>G |
single nucleotide variant |
not provided [RCV001692599] |
Chr3:129431751 [GRCh38] Chr3:129150594 [GRCh37] Chr3:3q21.3 |
benign |
NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr) |
single nucleotide variant |
MBD4-related disorder [RCV003968524]|not provided [RCV001730401]|not specified [RCV001794515] |
Chr3:129436571 [GRCh38] Chr3:129155414 [GRCh37] Chr3:3q21.3 |
benign|likely benign |
NM_001276270.2(MBD4):c.1517G>A (p.Arg506Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002273258]|not provided [RCV003698895] |
Chr3:129433124 [GRCh38] Chr3:129151967 [GRCh37] Chr3:3q21.3 |
likely pathogenic|uncertain significance |
NM_001276270.2(MBD4):c.1382A>G (p.Asn461Ser) |
single nucleotide variant |
MBD4-related disorder [RCV003913394]|not provided [RCV002542496]|not specified [RCV001822183] |
Chr3:129433861 [GRCh38] Chr3:129152704 [GRCh37] Chr3:3q21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001276270.2(MBD4):c.181T>C (p.Cys61Arg) |
single nucleotide variant |
MBD4-related disorder [RCV003956389]|not provided [RCV002512159]|not specified [RCV001822184] |
Chr3:129437874 [GRCh38] Chr3:129156717 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1366G>A (p.Ala456Thr) |
single nucleotide variant |
not provided [RCV003708617]|not specified [RCV001822495] |
Chr3:129433877 [GRCh38] Chr3:129152720 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.-5G>C |
single nucleotide variant |
not specified [RCV001822561] |
Chr3:129439838 [GRCh38] Chr3:129158681 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.368C>T (p.Ser123Leu) |
single nucleotide variant |
not provided [RCV002542686]|not specified [RCV001822758] |
Chr3:129437276 [GRCh38] Chr3:129156119 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.939dup (p.Glu314fs) |
duplication |
Tumor predisposition syndrome 2 [RCV002274219]|not provided [RCV002545186]|not specified [RCV001818015] |
Chr3:129436704..129436705 [GRCh38] Chr3:129155547..129155548 [GRCh37] Chr3:3q21.3 |
pathogenic|uncertain significance |
NM_001276270.2(MBD4):c.111A>T (p.Glu37Asp) |
single nucleotide variant |
not provided [RCV003565501]|not specified [RCV001820692] |
Chr3:129437944 [GRCh38] Chr3:129156787 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.31C>T (p.Leu11=) |
single nucleotide variant |
MBD4-related disorder [RCV003968582]|not provided [RCV002542659]|not specified [RCV001822521] |
Chr3:129439803 [GRCh38] Chr3:129158646 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1183+17A>G |
single nucleotide variant |
not provided [RCV002545174]|not specified [RCV001822633] |
Chr3:129436444 [GRCh38] Chr3:129155287 [GRCh37] Chr3:3q21.3 |
likely benign|uncertain significance |
NM_001276270.2(MBD4):c.1372A>G (p.Ile458Val) |
single nucleotide variant |
not specified [RCV001822641] |
Chr3:129433871 [GRCh38] Chr3:129152714 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1160C>T (p.Ser387Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004040996]|not provided [RCV003560864]|not specified [RCV001822664] |
Chr3:129436484 [GRCh38] Chr3:129155327 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NC_000003.11:g.(?_129150344)_(129252561_?)dup |
duplication |
Cranioectodermal dysplasia 1 [RCV001961718]|not provided [RCV003107934] |
Chr3:129150344..129252561 [GRCh37] Chr3:3q21.3-22.1 |
uncertain significance|no classifications from unflagged records |
NC_000003.11:g.(?_120365818)_(133465047_?)del |
deletion |
Alkaptonuria [RCV002035459] |
Chr3:120365818..133465047 [GRCh37] Chr3:3q13.33-22.1 |
pathogenic |
NC_000003.11:g.(?_129150344)_(129159234_?)dup |
duplication |
Cranioectodermal dysplasia 1 [RCV003122992] |
Chr3:129150344..129159234 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1670T>A (p.Leu557Ter) |
single nucleotide variant |
Melanoma, uveal, susceptibility to, 1 [RCV002274502]|Tumor predisposition syndrome 2 [RCV002274503]|not provided [RCV003096173] |
Chr3:129431556 [GRCh38] Chr3:129150399 [GRCh37] Chr3:3q21.3 |
pathogenic|risk factor|uncertain significance |
NM_003925.2:c.1699_1701del |
deletion |
Tumor predisposition syndrome 2 [RCV002274498] |
|
pathogenic |
NM_001276270.2(MBD4):c.1688G>A (p.Trp563Ter) |
single nucleotide variant |
Melanoma, uveal, susceptibility to, 1 [RCV002274505]|not provided [RCV003660917] |
Chr3:129431538 [GRCh38] Chr3:129150381 [GRCh37] Chr3:3q21.3 |
risk factor|uncertain significance |
NM_001276270.2(MBD4):c.1544-1G>T |
single nucleotide variant |
MBD4-related disorder [RCV004757536]|Melanoma, uveal, susceptibility to, 1 [RCV002274499]|Tumor predisposition syndrome 2 [RCV002274500]|not provided [RCV003101557] |
Chr3:129432607 [GRCh38] Chr3:129151450 [GRCh37] Chr3:3q21.3 |
pathogenic|likely pathogenic|risk factor |
NM_001276270.2(MBD4):c.217C>T (p.Gln73Ter) |
single nucleotide variant |
Tumor predisposition syndrome 2 [RCV002274501]|not provided [RCV003728063] |
Chr3:129437838 [GRCh38] Chr3:129156681 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.1384C>T (p.Arg462Trp) |
single nucleotide variant |
Melanoma, uveal, susceptibility to, 1 [RCV002274506] |
Chr3:129433859 [GRCh38] Chr3:129152702 [GRCh37] Chr3:3q21.3 |
risk factor |
NM_001276270.2(MBD4):c.612_615del (p.Ser205fs) |
microsatellite |
Tumor predisposition syndrome 2 [RCV002274504]|not provided [RCV003708633] |
Chr3:129437029..129437032 [GRCh38] Chr3:129155872..129155875 [GRCh37] Chr3:3q21.3 |
pathogenic |
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 |
copy number gain |
not provided [RCV002472621] |
Chr3:116620308..172042292 [GRCh37] Chr3:3q13.31-26.31 |
pathogenic |
NM_001276270.2(MBD4):c.217C>G (p.Gln73Glu) |
single nucleotide variant |
not provided [RCV002858236] |
Chr3:129437838 [GRCh38] Chr3:129156681 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.247C>T (p.Arg83Cys) |
single nucleotide variant |
not provided [RCV002994789] |
Chr3:129437808 [GRCh38] Chr3:129156651 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1213_1216del (p.Arg405fs) |
microsatellite |
not provided [RCV002731334] |
Chr3:129434104..129434107 [GRCh38] Chr3:129152947..129152950 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.572C>T (p.Pro191Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004064298]|not provided [RCV002512236] |
Chr3:129437072 [GRCh38] Chr3:129155915 [GRCh37] Chr3:3q21.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_001276270.2(MBD4):c.1350A>G (p.Pro450=) |
single nucleotide variant |
MBD4-related disorder [RCV003973617]|not provided [RCV002994826] |
Chr3:129433893 [GRCh38] Chr3:129152736 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1108C>T (p.His370Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002902474]|not provided [RCV003708713] |
Chr3:129436536 [GRCh38] Chr3:129155379 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1647+13C>G |
single nucleotide variant |
not provided [RCV002731500] |
Chr3:129432490 [GRCh38] Chr3:129151333 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.508C>G (p.Gln170Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002778131]|not provided [RCV003669332] |
Chr3:129437136 [GRCh38] Chr3:129155979 [GRCh37] Chr3:3q21.3 |
likely benign|uncertain significance |
NM_001276270.2(MBD4):c.1023C>G (p.Asp341Glu) |
single nucleotide variant |
not provided [RCV002815814] |
Chr3:129436621 [GRCh38] Chr3:129155464 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.803_804del (p.Val267_Cys268insTer) |
microsatellite |
not provided [RCV002512235] |
Chr3:129436840..129436841 [GRCh38] Chr3:129155683..129155684 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.1478T>C (p.Val493Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004073323]|not provided [RCV003097504] |
Chr3:129433163 [GRCh38] Chr3:129152006 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.662ATG[1] (p.Asp222del) |
microsatellite |
not provided [RCV002995674] |
Chr3:129436977..129436979 [GRCh38] Chr3:129155820..129155822 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.587C>T (p.Ser196Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002969213]|not provided [RCV003699004] |
Chr3:129437057 [GRCh38] Chr3:129155900 [GRCh37] Chr3:3q21.3 |
likely benign|uncertain significance |
NM_001276270.2(MBD4):c.494C>G (p.Ser165Cys) |
single nucleotide variant |
MBD4-related disorder [RCV003898527]|not provided [RCV002751250] |
Chr3:129437150 [GRCh38] Chr3:129155993 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.336C>T (p.Ser112=) |
single nucleotide variant |
MBD4-related disorder [RCV003961152]|not provided [RCV002907699] |
Chr3:129437308 [GRCh38] Chr3:129156151 [GRCh37] Chr3:3q21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001276270.2(MBD4):c.207C>T (p.Ile69=) |
single nucleotide variant |
not provided [RCV002786047] |
Chr3:129437848 [GRCh38] Chr3:129156691 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.707C>T (p.Thr236Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004642036]|not provided [RCV002785823] |
Chr3:129436937 [GRCh38] Chr3:129155780 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1462G>T (p.Ala488Ser) |
single nucleotide variant |
not provided [RCV002796895] |
Chr3:129433179 [GRCh38] Chr3:129152022 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1276C>T (p.Arg426Cys) |
single nucleotide variant |
not provided [RCV003002857] |
Chr3:129433967 [GRCh38] Chr3:129152810 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.105-15A>G |
single nucleotide variant |
not provided [RCV002736115] |
Chr3:129437965 [GRCh38] Chr3:129156808 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.941A>G (p.Glu314Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002910919]|not provided [RCV003708715] |
Chr3:129436703 [GRCh38] Chr3:129155546 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1224A>C (p.Thr408=) |
single nucleotide variant |
not provided [RCV002846912] |
Chr3:129434096 [GRCh38] Chr3:129152939 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.97G>C (p.Asp33His) |
single nucleotide variant |
not provided [RCV003053559] |
Chr3:129439737 [GRCh38] Chr3:129158580 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1069G>A (p.Glu357Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002706818] |
Chr3:129436575 [GRCh38] Chr3:129155418 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1535A>G (p.Lys512Arg) |
single nucleotide variant |
not provided [RCV002736012] |
Chr3:129433106 [GRCh38] Chr3:129151949 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1074C>T (p.Ile358=) |
single nucleotide variant |
not provided [RCV002918199] |
Chr3:129436570 [GRCh38] Chr3:129155413 [GRCh37] Chr3:3q21.3 |
benign |
NM_001276270.2(MBD4):c.715A>G (p.Lys239Glu) |
single nucleotide variant |
not provided [RCV003083822] |
Chr3:129436929 [GRCh38] Chr3:129155772 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1510G>C (p.Asp504His) |
single nucleotide variant |
Inborn genetic diseases [RCV002893375] |
Chr3:129433131 [GRCh38] Chr3:129151974 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1625T>C (p.Phe542Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002763052] |
Chr3:129432525 [GRCh38] Chr3:129151368 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.846_849del (p.Gln283fs) |
deletion |
not provided [RCV002872292] |
Chr3:129436795..129436798 [GRCh38] Chr3:129155638..129155641 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.1244A>G (p.Lys415Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002743298]|not provided [RCV003574991] |
Chr3:129434076 [GRCh38] Chr3:129152919 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1647+16A>G |
single nucleotide variant |
not provided [RCV002811575] |
Chr3:129432487 [GRCh38] Chr3:129151330 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1268C>T (p.Pro423Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002719498] |
Chr3:129433975 [GRCh38] Chr3:129152818 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.435A>G (p.Val145=) |
single nucleotide variant |
not provided [RCV002581729] |
Chr3:129437209 [GRCh38] Chr3:129156052 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.478A>G (p.Met160Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002934496] |
Chr3:129437166 [GRCh38] Chr3:129156009 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.61A>G (p.Thr21Ala) |
single nucleotide variant |
not provided [RCV002898633] |
Chr3:129439773 [GRCh38] Chr3:129158616 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.614_615del (p.Leu204_Ser205insTer) |
microsatellite |
not provided [RCV003045597] |
Chr3:129437029..129437030 [GRCh38] Chr3:129155872..129155873 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.959G>A (p.Gly320Glu) |
single nucleotide variant |
not provided [RCV003087565] |
Chr3:129436685 [GRCh38] Chr3:129155528 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1166C>T (p.Thr389Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002769807] |
Chr3:129436478 [GRCh38] Chr3:129155321 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.985A>T (p.Thr329Ser) |
single nucleotide variant |
not provided [RCV002835389] |
Chr3:129436659 [GRCh38] Chr3:129155502 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.248G>A (p.Arg83His) |
single nucleotide variant |
not provided [RCV003031053] |
Chr3:129437807 [GRCh38] Chr3:129156650 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.942_945del (p.Glu314fs) |
microsatellite |
not provided [RCV002651737] |
Chr3:129436699..129436702 [GRCh38] Chr3:129155542..129155545 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.953G>C (p.Ser318Thr) |
single nucleotide variant |
not provided [RCV003044533] |
Chr3:129436691 [GRCh38] Chr3:129155534 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.695A>T (p.Lys232Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002673075]|not provided [RCV003777623] |
Chr3:129436949 [GRCh38] Chr3:129155792 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1451T>C (p.Val484Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002812976] |
Chr3:129433190 [GRCh38] Chr3:129152033 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.679A>C (p.Lys227Gln) |
single nucleotide variant |
not provided [RCV003061241] |
Chr3:129436965 [GRCh38] Chr3:129155808 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1574C>T (p.Pro525Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002678943] |
Chr3:129432576 [GRCh38] Chr3:129151419 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1163C>G (p.Pro388Arg) |
single nucleotide variant |
not provided [RCV002584762] |
Chr3:129436481 [GRCh38] Chr3:129155324 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1074C>A (p.Ile358=) |
single nucleotide variant |
not provided [RCV003068049] |
Chr3:129436570 [GRCh38] Chr3:129155413 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.828A>C (p.Glu276Asp) |
single nucleotide variant |
not provided [RCV002943314] |
Chr3:129436816 [GRCh38] Chr3:129155659 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.542G>A (p.Arg181Gln) |
single nucleotide variant |
not provided [RCV002582341] |
Chr3:129437102 [GRCh38] Chr3:129155945 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.986C>A (p.Thr329Asn) |
single nucleotide variant |
not provided [RCV002607734] |
Chr3:129436658 [GRCh38] Chr3:129155501 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.775C>G (p.Gln259Glu) |
single nucleotide variant |
not provided [RCV002654837] |
Chr3:129436869 [GRCh38] Chr3:129155712 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.682G>C (p.Val228Leu) |
single nucleotide variant |
not provided [RCV003073151] |
Chr3:129436962 [GRCh38] Chr3:129155805 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1424T>A (p.Phe475Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003216184] |
Chr3:129433217 [GRCh38] Chr3:129152060 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.737C>T (p.Thr246Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003263268]|not provided [RCV003679183] |
Chr3:129436907 [GRCh38] Chr3:129155750 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.736A>T (p.Thr246Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003378738] |
Chr3:129436908 [GRCh38] Chr3:129155751 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.619T>A (p.Phe207Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003379397] |
Chr3:129437025 [GRCh38] Chr3:129155868 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1171A>G (p.Lys391Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003344987]|not provided [RCV003669393] |
Chr3:129436473 [GRCh38] Chr3:129155316 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1312C>T (p.Pro438Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003352532] |
Chr3:129433931 [GRCh38] Chr3:129152774 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.718G>A (p.Gly240Arg) |
single nucleotide variant |
not provided [RCV003543873] |
Chr3:129436926 [GRCh38] Chr3:129155769 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1472G>T (p.Arg491Ile) |
single nucleotide variant |
not provided [RCV003826792] |
Chr3:129433169 [GRCh38] Chr3:129152012 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.595C>G (p.Gln199Glu) |
single nucleotide variant |
not provided [RCV003570476] |
Chr3:129437049 [GRCh38] Chr3:129155892 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.495C>T (p.Ser165=) |
single nucleotide variant |
not provided [RCV003543703] |
Chr3:129437149 [GRCh38] Chr3:129155992 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.44G>A (p.Gly15Glu) |
single nucleotide variant |
not provided [RCV003571856] |
Chr3:129439790 [GRCh38] Chr3:129158633 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.816T>C (p.Asp272=) |
single nucleotide variant |
not provided [RCV003457393] |
Chr3:129436828 [GRCh38] Chr3:129155671 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1516C>T (p.Arg506Trp) |
single nucleotide variant |
not provided [RCV003874762] |
Chr3:129433125 [GRCh38] Chr3:129151968 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.7A>G (p.Thr3Ala) |
single nucleotide variant |
not provided [RCV003542983] |
Chr3:129439827 [GRCh38] Chr3:129158670 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1335A>C (p.Thr445=) |
single nucleotide variant |
not provided [RCV003569812] |
Chr3:129433908 [GRCh38] Chr3:129152751 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.879T>C (p.Ala293=) |
single nucleotide variant |
not provided [RCV003427357] |
Chr3:129436765 [GRCh38] Chr3:129155608 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1253_1254del (p.Lys418fs) |
deletion |
not provided [RCV003427356] |
Chr3:129434066..129434067 [GRCh38] Chr3:129152909..129152910 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.512_524del (p.Ser171fs) |
deletion |
not provided [RCV003575194] |
Chr3:129437120..129437132 [GRCh38] Chr3:129155963..129155975 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.1132C>T (p.Arg378Cys) |
single nucleotide variant |
not provided [RCV003575299] |
Chr3:129436512 [GRCh38] Chr3:129155355 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1648-18A>G |
single nucleotide variant |
not provided [RCV003577150] |
Chr3:129431596 [GRCh38] Chr3:129150439 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1313C>G (p.Pro438Arg) |
single nucleotide variant |
not provided [RCV003660140] |
Chr3:129433930 [GRCh38] Chr3:129152773 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.9G>T (p.Thr3=) |
single nucleotide variant |
not provided [RCV003660389] |
Chr3:129439825 [GRCh38] Chr3:129158668 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.748T>G (p.Cys250Gly) |
single nucleotide variant |
not provided [RCV003688670] |
Chr3:129436896 [GRCh38] Chr3:129155739 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1279A>G (p.Lys427Glu) |
single nucleotide variant |
not provided [RCV003716171] |
Chr3:129433964 [GRCh38] Chr3:129152807 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.986C>T (p.Thr329Ile) |
single nucleotide variant |
not provided [RCV003695836] |
Chr3:129436658 [GRCh38] Chr3:129155501 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1648-20G>C |
single nucleotide variant |
not provided [RCV003579534] |
Chr3:129431598 [GRCh38] Chr3:129150441 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.934A>G (p.Lys312Glu) |
single nucleotide variant |
not provided [RCV003579536] |
Chr3:129436710 [GRCh38] Chr3:129155553 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.120T>C (p.Ala40=) |
single nucleotide variant |
not provided [RCV003579540] |
Chr3:129437935 [GRCh38] Chr3:129156778 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.136G>C (p.Val46Leu) |
single nucleotide variant |
not provided [RCV003579417] |
Chr3:129437919 [GRCh38] Chr3:129156762 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.403T>G (p.Ser135Ala) |
single nucleotide variant |
not provided [RCV003878326] |
Chr3:129437241 [GRCh38] Chr3:129156084 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1648-10T>C |
single nucleotide variant |
not provided [RCV003577325] |
Chr3:129431588 [GRCh38] Chr3:129150431 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.952A>G (p.Ser318Gly) |
single nucleotide variant |
not provided [RCV003577748] |
Chr3:129436692 [GRCh38] Chr3:129155535 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.129G>T (p.Leu43Phe) |
single nucleotide variant |
not provided [RCV003577538] |
Chr3:129437926 [GRCh38] Chr3:129156769 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.33G>A (p.Leu11=) |
single nucleotide variant |
not provided [RCV003579434] |
Chr3:129439801 [GRCh38] Chr3:129158644 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.51C>G (p.Ala17=) |
single nucleotide variant |
not provided [RCV003547724] |
Chr3:129439783 [GRCh38] Chr3:129158626 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.96T>C (p.Asn32=) |
single nucleotide variant |
not provided [RCV003689124] |
Chr3:129439738 [GRCh38] Chr3:129158581 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1214G>A (p.Arg405Lys) |
single nucleotide variant |
not provided [RCV003882123] |
Chr3:129434106 [GRCh38] Chr3:129152949 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1258+3A>G |
single nucleotide variant |
not provided [RCV003715449] |
Chr3:129434059 [GRCh38] Chr3:129152902 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.335G>A (p.Ser112Asn) |
single nucleotide variant |
not provided [RCV003739983] |
Chr3:129437720 [GRCh38] Chr3:129156563 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1435T>G (p.Tyr479Asp) |
single nucleotide variant |
not provided [RCV003574250] |
Chr3:129433206 [GRCh38] Chr3:129152049 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.105-15A>T |
single nucleotide variant |
not provided [RCV003715052] |
Chr3:129437965 [GRCh38] Chr3:129156808 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1267C>G (p.Pro423Ala) |
single nucleotide variant |
not provided [RCV003662685] |
Chr3:129433976 [GRCh38] Chr3:129152819 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1184-20T>C |
single nucleotide variant |
not provided [RCV003662636] |
Chr3:129434156 [GRCh38] Chr3:129152999 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.275G>C (p.Arg92Thr) |
single nucleotide variant |
not provided [RCV003660613] |
Chr3:129437780 [GRCh38] Chr3:129156623 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.300del (p.Lys101fs) |
deletion |
not provided [RCV003577324] |
Chr3:129437755 [GRCh38] Chr3:129156598 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.558G>C (p.Lys186Asn) |
single nucleotide variant |
not provided [RCV003662699] |
Chr3:129437086 [GRCh38] Chr3:129155929 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.773T>G (p.Val258Gly) |
single nucleotide variant |
not provided [RCV003575298] |
Chr3:129436871 [GRCh38] Chr3:129155714 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1225A>G (p.Ser409Gly) |
single nucleotide variant |
not provided [RCV003547719] |
Chr3:129434095 [GRCh38] Chr3:129152938 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1075G>A (p.Gly359Arg) |
single nucleotide variant |
not provided [RCV003663280] |
Chr3:129436569 [GRCh38] Chr3:129155412 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.364del (p.Ser122fs) |
deletion |
not provided [RCV003577327] |
Chr3:129437280 [GRCh38] Chr3:129156123 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.557A>G (p.Lys186Arg) |
single nucleotide variant |
not provided [RCV003576945] |
Chr3:129437087 [GRCh38] Chr3:129155930 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1168A>G (p.Arg390Gly) |
single nucleotide variant |
not provided [RCV003660753] |
Chr3:129436476 [GRCh38] Chr3:129155319 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1266C>A (p.Ser422Arg) |
single nucleotide variant |
not provided [RCV003575402] |
Chr3:129433977 [GRCh38] Chr3:129152820 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1259-7T>G |
single nucleotide variant |
not provided [RCV003876504] |
Chr3:129433991 [GRCh38] Chr3:129152834 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1501G>C (p.Gly501Arg) |
single nucleotide variant |
not provided [RCV003577334] |
Chr3:129433140 [GRCh38] Chr3:129151983 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.10A>G (p.Thr4Ala) |
single nucleotide variant |
not provided [RCV003878550] |
Chr3:129439824 [GRCh38] Chr3:129158667 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.426T>C (p.Asp142=) |
single nucleotide variant |
not provided [RCV003576842] |
Chr3:129437218 [GRCh38] Chr3:129156061 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1413G>A (p.Val471=) |
single nucleotide variant |
not provided [RCV003875824] |
Chr3:129433228 [GRCh38] Chr3:129152071 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.629C>A (p.Thr210Asn) |
single nucleotide variant |
not provided [RCV003689397] |
Chr3:129437015 [GRCh38] Chr3:129155858 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1545T>A (p.Asp515Glu) |
single nucleotide variant |
not provided [RCV003662335] |
Chr3:129432605 [GRCh38] Chr3:129151448 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1420A>C (p.Lys474Gln) |
single nucleotide variant |
not provided [RCV003575554] |
Chr3:129433221 [GRCh38] Chr3:129152064 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.742_744del (p.Lys248del) |
deletion |
not provided [RCV003688703] |
Chr3:129436900..129436902 [GRCh38] Chr3:129155743..129155745 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.342A>G (p.Gln114=) |
single nucleotide variant |
not provided [RCV003830801] |
Chr3:129437302 [GRCh38] Chr3:129156145 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.819T>C (p.Ala273=) |
single nucleotide variant |
not provided [RCV003547502] |
Chr3:129436825 [GRCh38] Chr3:129155668 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1053C>T (p.Thr351=) |
single nucleotide variant |
not provided [RCV003881463] |
Chr3:129436591 [GRCh38] Chr3:129155434 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.336-19C>T |
single nucleotide variant |
not provided [RCV003575416] |
Chr3:129437327 [GRCh38] Chr3:129156170 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1138T>C (p.Ser380Pro) |
single nucleotide variant |
not provided [RCV003578773] |
Chr3:129436506 [GRCh38] Chr3:129155349 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1145T>A (p.Met382Lys) |
single nucleotide variant |
not provided [RCV003577510] |
Chr3:129436499 [GRCh38] Chr3:129155342 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1183+12_1183+16del |
deletion |
not provided [RCV003662969] |
Chr3:129436445..129436449 [GRCh38] Chr3:129155288..129155292 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.110A>T (p.Glu37Val) |
single nucleotide variant |
not provided [RCV003825165] |
Chr3:129437945 [GRCh38] Chr3:129156788 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.273A>T (p.Glu91Asp) |
single nucleotide variant |
not provided [RCV003545264] |
Chr3:129437782 [GRCh38] Chr3:129156625 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1274G>T (p.Arg425Leu) |
single nucleotide variant |
not provided [RCV003715479] |
Chr3:129433969 [GRCh38] Chr3:129152812 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.943_946dup (p.Ser316Ter) |
duplication |
not provided [RCV003575532] |
Chr3:129436697..129436698 [GRCh38] Chr3:129155540..129155541 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.1193T>C (p.Ile398Thr) |
single nucleotide variant |
not provided [RCV003544570] |
Chr3:129434127 [GRCh38] Chr3:129152970 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.878C>T (p.Ala293Val) |
single nucleotide variant |
not provided [RCV003577617] |
Chr3:129436766 [GRCh38] Chr3:129155609 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1472G>C (p.Arg491Thr) |
single nucleotide variant |
not provided [RCV003577616] |
Chr3:129433169 [GRCh38] Chr3:129152012 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1577T>C (p.Ile526Thr) |
single nucleotide variant |
not provided [RCV003547050] |
Chr3:129432573 [GRCh38] Chr3:129151416 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1569G>C (p.Lys523Asn) |
single nucleotide variant |
not provided [RCV003577231] |
Chr3:129432581 [GRCh38] Chr3:129151424 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1635T>C (p.Asn545=) |
single nucleotide variant |
not provided [RCV003544305] |
Chr3:129432515 [GRCh38] Chr3:129151358 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1035C>A (p.Asn345Lys) |
single nucleotide variant |
not provided [RCV003663150] |
Chr3:129436609 [GRCh38] Chr3:129155452 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1254_1257del (p.Glu419fs) |
deletion |
not provided [RCV003547603] |
Chr3:129434063..129434066 [GRCh38] Chr3:129152906..129152909 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.104+13C>A |
single nucleotide variant |
not provided [RCV003660227] |
Chr3:129439717 [GRCh38] Chr3:129158560 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.356G>T (p.Arg119Ile) |
single nucleotide variant |
not provided [RCV003547194] |
Chr3:129437288 [GRCh38] Chr3:129156131 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1393+18A>G |
single nucleotide variant |
not provided [RCV003575297] |
Chr3:129433832 [GRCh38] Chr3:129152675 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1350A>C (p.Pro450=) |
single nucleotide variant |
not provided [RCV003575818] |
Chr3:129433893 [GRCh38] Chr3:129152736 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1002_1005del (p.Lys335fs) |
deletion |
not provided [RCV003662726] |
Chr3:129436639..129436642 [GRCh38] Chr3:129155482..129155485 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.1183+10T>C |
single nucleotide variant |
not provided [RCV003659740] |
Chr3:129436451 [GRCh38] Chr3:129155294 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.999A>C (p.Ile333=) |
single nucleotide variant |
not provided [RCV003547295] |
Chr3:129436645 [GRCh38] Chr3:129155488 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.105-16G>A |
single nucleotide variant |
not provided [RCV003715125] |
Chr3:129437966 [GRCh38] Chr3:129156809 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1176C>A (p.Asp392Glu) |
single nucleotide variant |
not provided [RCV003662006] |
Chr3:129436468 [GRCh38] Chr3:129155311 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.350A>C (p.Lys117Thr) |
single nucleotide variant |
not provided [RCV003692661] |
Chr3:129437294 [GRCh38] Chr3:129156137 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1636G>A (p.Glu546Lys) |
single nucleotide variant |
not provided [RCV003545626] |
Chr3:129432514 [GRCh38] Chr3:129151357 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.872C>T (p.Ser291Phe) |
single nucleotide variant |
not provided [RCV003547254] |
Chr3:129436772 [GRCh38] Chr3:129155615 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1543+10T>A |
single nucleotide variant |
not provided [RCV003687558] |
Chr3:129433088 [GRCh38] Chr3:129151931 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1543+11A>G |
single nucleotide variant |
not provided [RCV003715535] |
Chr3:129433087 [GRCh38] Chr3:129151930 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.392A>G (p.Asn131Ser) |
single nucleotide variant |
not provided [RCV003713990] |
Chr3:129437252 [GRCh38] Chr3:129156095 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1716T>G (p.Ser572Arg) |
single nucleotide variant |
not provided [RCV003715344] |
Chr3:129431510 [GRCh38] Chr3:129150353 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.549G>A (p.Lys183=) |
single nucleotide variant |
not provided [RCV003824673] |
Chr3:129437095 [GRCh38] Chr3:129155938 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.232G>C (p.Ala78Pro) |
single nucleotide variant |
not provided [RCV003547051] |
Chr3:129437823 [GRCh38] Chr3:129156666 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.412C>G (p.Pro138Ala) |
single nucleotide variant |
not provided [RCV003662573] |
Chr3:129437232 [GRCh38] Chr3:129156075 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.652G>A (p.Glu218Lys) |
single nucleotide variant |
not provided [RCV003545653] |
Chr3:129436992 [GRCh38] Chr3:129155835 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.188C>T (p.Pro63Leu) |
single nucleotide variant |
not provided [RCV003547253] |
Chr3:129437867 [GRCh38] Chr3:129156710 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1255G>A (p.Glu419Lys) |
single nucleotide variant |
not provided [RCV003549927] |
Chr3:129434065 [GRCh38] Chr3:129152908 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1003A>G (p.Lys335Glu) |
single nucleotide variant |
not provided [RCV003664377] |
Chr3:129436641 [GRCh38] Chr3:129155484 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.570GCC[1] (p.Pro192del) |
microsatellite |
not provided [RCV003664564] |
Chr3:129437069..129437071 [GRCh38] Chr3:129155912..129155914 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1281A>G (p.Lys427=) |
single nucleotide variant |
not provided [RCV003548241] |
Chr3:129433962 [GRCh38] Chr3:129152805 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.683T>A (p.Val228Asp) |
single nucleotide variant |
MBD4-related disorder [RCV004757617]|not provided [RCV003833336] |
Chr3:129436961 [GRCh38] Chr3:129155804 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1183+27T>G |
single nucleotide variant |
not provided [RCV003666015] |
Chr3:129436434 [GRCh38] Chr3:129155277 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1509C>T (p.Tyr503=) |
single nucleotide variant |
not provided [RCV003666142] |
Chr3:129433132 [GRCh38] Chr3:129151975 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1704T>C (p.His568=) |
single nucleotide variant |
not provided [RCV003549479] |
Chr3:129431522 [GRCh38] Chr3:129150365 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1494A>G (p.Lys498=) |
single nucleotide variant |
not provided [RCV003665011] |
Chr3:129433147 [GRCh38] Chr3:129151990 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.943A>G (p.Arg315Gly) |
single nucleotide variant |
not provided [RCV003659637] |
Chr3:129436701 [GRCh38] Chr3:129155544 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1667A>G (p.Lys556Arg) |
single nucleotide variant |
not provided [RCV003698284] |
Chr3:129431559 [GRCh38] Chr3:129150402 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.139G>A (p.Gly47Arg) |
single nucleotide variant |
not provided [RCV003698621] |
Chr3:129437916 [GRCh38] Chr3:129156759 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1259-15A>C |
single nucleotide variant |
not provided [RCV003698319] |
Chr3:129433999 [GRCh38] Chr3:129152842 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.523A>C (p.Asn175His) |
single nucleotide variant |
not provided [RCV003549569] |
Chr3:129437121 [GRCh38] Chr3:129155964 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1647+20A>G |
single nucleotide variant |
not provided [RCV003665046] |
Chr3:129432483 [GRCh38] Chr3:129151326 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.555A>G (p.Lys185=) |
single nucleotide variant |
not provided [RCV003703560] |
Chr3:129437089 [GRCh38] Chr3:129155932 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.672C>T (p.Asn224=) |
single nucleotide variant |
not provided [RCV003659535] |
Chr3:129436972 [GRCh38] Chr3:129155815 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.115G>A (p.Val39Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004416848] |
Chr3:129437940 [GRCh38] Chr3:129156783 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1508A>G (p.Tyr503Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004416849] |
Chr3:129433133 [GRCh38] Chr3:129151976 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1544-7T>C |
single nucleotide variant |
not provided [RCV003703316] |
Chr3:129432613 [GRCh38] Chr3:129151456 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1461C>T (p.Thr487=) |
single nucleotide variant |
not provided [RCV003697070] |
Chr3:129433180 [GRCh38] Chr3:129152023 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1686C>T (p.Asp562=) |
single nucleotide variant |
not provided [RCV003698078] |
Chr3:129431540 [GRCh38] Chr3:129150383 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.11C>G (p.Thr4Ser) |
single nucleotide variant |
not provided [RCV003665871] |
Chr3:129439823 [GRCh38] Chr3:129158666 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1266C>T (p.Ser422=) |
single nucleotide variant |
not provided [RCV003665909] |
Chr3:129433977 [GRCh38] Chr3:129152820 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.835G>A (p.Ala279Thr) |
single nucleotide variant |
not provided [RCV003665106] |
Chr3:129436809 [GRCh38] Chr3:129155652 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.890G>C (p.Gly297Ala) |
single nucleotide variant |
not provided [RCV003703148] |
Chr3:129436754 [GRCh38] Chr3:129155597 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1195C>T (p.Pro399Ser) |
single nucleotide variant |
not provided [RCV003703193] |
Chr3:129434125 [GRCh38] Chr3:129152968 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.105-19T>G |
single nucleotide variant |
not provided [RCV003703609] |
Chr3:129437969 [GRCh38] Chr3:129156812 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1544-17G>C |
single nucleotide variant |
not provided [RCV003703231] |
Chr3:129432623 [GRCh38] Chr3:129151466 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1038G>A (p.Glu346=) |
single nucleotide variant |
not provided [RCV003668339] |
Chr3:129436606 [GRCh38] Chr3:129155449 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1421A>C (p.Lys474Thr) |
single nucleotide variant |
not provided [RCV003550125] |
Chr3:129433220 [GRCh38] Chr3:129152063 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.594G>A (p.Leu198=) |
single nucleotide variant |
not provided [RCV003673705] |
Chr3:129437050 [GRCh38] Chr3:129155893 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.743A>G (p.Lys248Arg) |
single nucleotide variant |
not provided [RCV003666711] |
Chr3:129436901 [GRCh38] Chr3:129155744 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1543+5T>C |
single nucleotide variant |
not provided [RCV003726559] |
Chr3:129433093 [GRCh38] Chr3:129151936 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.840A>G (p.Gln280=) |
single nucleotide variant |
not provided [RCV003703431] |
Chr3:129436804 [GRCh38] Chr3:129155647 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.57C>T (p.Thr19=) |
single nucleotide variant |
not provided [RCV003663778] |
Chr3:129439777 [GRCh38] Chr3:129158620 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.521C>T (p.Ser174Leu) |
single nucleotide variant |
not provided [RCV003698074] |
Chr3:129437123 [GRCh38] Chr3:129155966 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.962C>G (p.Ser321Ter) |
single nucleotide variant |
not provided [RCV003664787] |
Chr3:129436682 [GRCh38] Chr3:129155525 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.596A>G (p.Gln199Arg) |
single nucleotide variant |
not provided [RCV003700955] |
Chr3:129437048 [GRCh38] Chr3:129155891 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.629C>T (p.Thr210Ile) |
single nucleotide variant |
not provided [RCV003663935] |
Chr3:129437015 [GRCh38] Chr3:129155858 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.233C>G (p.Ala78Gly) |
single nucleotide variant |
not provided [RCV003725754] |
Chr3:129437822 [GRCh38] Chr3:129156665 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1648-12T>C |
single nucleotide variant |
not provided [RCV003702815] |
Chr3:129431590 [GRCh38] Chr3:129150433 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1677A>G (p.Lys559=) |
single nucleotide variant |
not provided [RCV003703221] |
Chr3:129431549 [GRCh38] Chr3:129150392 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.938_939dup (p.Glu314fs) |
duplication |
not provided [RCV003673567] |
Chr3:129436704..129436705 [GRCh38] Chr3:129155547..129155548 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.1618C>T (p.Arg540Ter) |
single nucleotide variant |
not provided [RCV003724211] |
Chr3:129432532 [GRCh38] Chr3:129151375 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1052C>T (p.Thr351Ile) |
single nucleotide variant |
not provided [RCV003672016] |
Chr3:129436592 [GRCh38] Chr3:129155435 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.282G>T (p.Val94=) |
single nucleotide variant |
not provided [RCV003672638] |
Chr3:129437773 [GRCh38] Chr3:129156616 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.159GAT[1] (p.Met54del) |
microsatellite |
not provided [RCV003702320] |
Chr3:129437891..129437893 [GRCh38] Chr3:129156734..129156736 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.25_26del (p.Leu9fs) |
deletion |
not provided [RCV003698459] |
Chr3:129439808..129439809 [GRCh38] Chr3:129158651..129158652 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.749G>A (p.Cys250Tyr) |
single nucleotide variant |
not provided [RCV003701966] |
Chr3:129436895 [GRCh38] Chr3:129155738 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1543+17C>G |
single nucleotide variant |
not provided [RCV003698406] |
Chr3:129433081 [GRCh38] Chr3:129151924 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.578G>A (p.Ser193Asn) |
single nucleotide variant |
not provided [RCV003665178] |
Chr3:129437066 [GRCh38] Chr3:129155909 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1274G>A (p.Arg425Gln) |
single nucleotide variant |
not provided [RCV003702894] |
Chr3:129433969 [GRCh38] Chr3:129152812 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1362C>T (p.Leu454=) |
single nucleotide variant |
not provided [RCV003700632] |
Chr3:129433881 [GRCh38] Chr3:129152724 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1115A>C (p.His372Pro) |
single nucleotide variant |
not provided [RCV003672137] |
Chr3:129436529 [GRCh38] Chr3:129155372 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.849G>A (p.Gln283=) |
single nucleotide variant |
not provided [RCV003703234] |
Chr3:129436795 [GRCh38] Chr3:129155638 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.359C>G (p.Ser120Cys) |
single nucleotide variant |
not provided [RCV003673674] |
Chr3:129437285 [GRCh38] Chr3:129156128 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1337T>G (p.Leu446Arg) |
single nucleotide variant |
not provided [RCV003672528] |
Chr3:129433906 [GRCh38] Chr3:129152749 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.414AGA[1] (p.Glu139del) |
microsatellite |
not provided [RCV003673038] |
Chr3:129437225..129437227 [GRCh38] Chr3:129156068..129156070 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1611C>T (p.Asp537=) |
single nucleotide variant |
not provided [RCV003665812] |
Chr3:129432539 [GRCh38] Chr3:129151382 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1637A>T (p.Glu546Val) |
single nucleotide variant |
not provided [RCV003665760] |
Chr3:129432513 [GRCh38] Chr3:129151356 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.541C>T (p.Arg181Ter) |
single nucleotide variant |
not provided [RCV003665855] |
Chr3:129437103 [GRCh38] Chr3:129155946 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.282G>A (p.Val94=) |
single nucleotide variant |
not provided [RCV003701029] |
Chr3:129437773 [GRCh38] Chr3:129156616 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.997A>G (p.Ile333Val) |
single nucleotide variant |
not provided [RCV003702280] |
Chr3:129436647 [GRCh38] Chr3:129155490 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1343A>G (p.His448Arg) |
single nucleotide variant |
not provided [RCV003671030] |
Chr3:129433900 [GRCh38] Chr3:129152743 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.501A>G (p.Leu167=) |
single nucleotide variant |
not provided [RCV003723269] |
Chr3:129437143 [GRCh38] Chr3:129155986 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1273C>T (p.Arg425Ter) |
single nucleotide variant |
not provided [RCV003724212] |
Chr3:129433970 [GRCh38] Chr3:129152813 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.138G>A (p.Val46=) |
single nucleotide variant |
not provided [RCV003670936] |
Chr3:129437917 [GRCh38] Chr3:129156760 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.193C>A (p.Leu65Ile) |
single nucleotide variant |
not provided [RCV003664031] |
Chr3:129437862 [GRCh38] Chr3:129156705 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.230C>T (p.Thr77Ile) |
single nucleotide variant |
not provided [RCV003659067] |
Chr3:129437825 [GRCh38] Chr3:129156668 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.570G>A (p.Met190Ile) |
single nucleotide variant |
not provided [RCV003700819] |
Chr3:129437074 [GRCh38] Chr3:129155917 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.201A>T (p.Glu67Asp) |
single nucleotide variant |
not provided [RCV003724726] |
Chr3:129437854 [GRCh38] Chr3:129156697 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.347T>G (p.Leu116Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004369048]|MBD4-related disorder [RCV003954242]|not provided [RCV003548334] |
Chr3:129437297 [GRCh38] Chr3:129156140 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1586A>G (p.His529Arg) |
single nucleotide variant |
not provided [RCV003672429] |
Chr3:129432564 [GRCh38] Chr3:129151407 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.953G>A (p.Ser318Asn) |
single nucleotide variant |
not provided [RCV003698190] |
Chr3:129436691 [GRCh38] Chr3:129155534 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1533C>G (p.Val511=) |
single nucleotide variant |
not provided [RCV003725601] |
Chr3:129433108 [GRCh38] Chr3:129151951 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.57C>G (p.Thr19=) |
single nucleotide variant |
not provided [RCV003671323] |
Chr3:129439777 [GRCh38] Chr3:129158620 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1682A>G (p.His561Arg) |
single nucleotide variant |
not provided [RCV003659372] |
Chr3:129431544 [GRCh38] Chr3:129150387 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.336-11del |
deletion |
not provided [RCV003667002] |
Chr3:129437319 [GRCh38] Chr3:129156162 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1131dup (p.Arg378fs) |
duplication |
not provided [RCV003668851] |
Chr3:129436512..129436513 [GRCh38] Chr3:129155355..129155356 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.1576A>G (p.Ile526Val) |
single nucleotide variant |
not provided [RCV003580110] |
Chr3:129432574 [GRCh38] Chr3:129151417 [GRCh37] Chr3:3q21.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001276270.2(MBD4):c.1259-14C>G |
single nucleotide variant |
not provided [RCV003666394] |
Chr3:129433998 [GRCh38] Chr3:129152841 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.646G>A (p.Glu216Lys) |
single nucleotide variant |
not provided [RCV003724016] |
Chr3:129436998 [GRCh38] Chr3:129155841 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.451A>G (p.Ile151Val) |
single nucleotide variant |
not provided [RCV003813866] |
Chr3:129437193 [GRCh38] Chr3:129156036 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1238C>G (p.Ser413Cys) |
single nucleotide variant |
not provided [RCV003672726] |
Chr3:129434082 [GRCh38] Chr3:129152925 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1058T>C (p.Leu353Ser) |
single nucleotide variant |
not provided [RCV003668912] |
Chr3:129436586 [GRCh38] Chr3:129155429 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1526C>T (p.Thr509Ile) |
single nucleotide variant |
not provided [RCV003668011] |
Chr3:129433115 [GRCh38] Chr3:129151958 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1307G>A (p.Arg436Gln) |
single nucleotide variant |
not provided [RCV003559097] |
Chr3:129433936 [GRCh38] Chr3:129152779 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1703A>G (p.His568Arg) |
single nucleotide variant |
not provided [RCV003731450] |
Chr3:129431523 [GRCh38] Chr3:129150366 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1614T>C (p.Ser538=) |
single nucleotide variant |
not provided [RCV003729121] |
Chr3:129432536 [GRCh38] Chr3:129151379 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1035C>T (p.Asn345=) |
single nucleotide variant |
not provided [RCV003712018] |
Chr3:129436609 [GRCh38] Chr3:129155452 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.783T>C (p.Asp261=) |
single nucleotide variant |
not provided [RCV003710344] |
Chr3:129436861 [GRCh38] Chr3:129155704 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.105-17A>C |
single nucleotide variant |
not provided [RCV003550611] |
Chr3:129437967 [GRCh38] Chr3:129156810 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.615dup (p.Asn206Ter) |
duplication |
MBD4-related disorder [RCV004757594]|not provided [RCV003551469] |
Chr3:129437028..129437029 [GRCh38] Chr3:129155871..129155872 [GRCh37] Chr3:3q21.3 |
pathogenic|uncertain significance |
NM_001276270.2(MBD4):c.335+1G>A |
single nucleotide variant |
not provided [RCV003734585] |
Chr3:129437719 [GRCh38] Chr3:129156562 [GRCh37] Chr3:3q21.3 |
likely pathogenic |
NM_001276270.2(MBD4):c.88C>T (p.Pro30Ser) |
single nucleotide variant |
not provided [RCV003675959] |
Chr3:129439746 [GRCh38] Chr3:129158589 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.99C>A (p.Asp33Glu) |
single nucleotide variant |
MBD4-related disorder [RCV003919298]|not provided [RCV003566771] |
Chr3:129439735 [GRCh38] Chr3:129158578 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1394-1_1394insA |
insertion |
not provided [RCV003681158] |
Chr3:129433247..129433248 [GRCh38] Chr3:129152090..129152091 [GRCh37] Chr3:3q21.3 |
likely pathogenic |
NM_001276270.2(MBD4):c.309A>G (p.Ala103=) |
single nucleotide variant |
not provided [RCV003551648] |
Chr3:129437746 [GRCh38] Chr3:129156589 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1288A>G (p.Lys430Glu) |
single nucleotide variant |
not provided [RCV003551650] |
Chr3:129433955 [GRCh38] Chr3:129152798 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.885A>G (p.Ala295=) |
single nucleotide variant |
not provided [RCV003733714] |
Chr3:129436759 [GRCh38] Chr3:129155602 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1681C>T (p.His561Tyr) |
single nucleotide variant |
not provided [RCV003678788] |
Chr3:129431545 [GRCh38] Chr3:129150388 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1425del (p.Leu476fs) |
deletion |
MBD4-related disorder [RCV004757598]|not provided [RCV003554473] |
Chr3:129433216 [GRCh38] Chr3:129152059 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.939del (p.Glu314fs) |
deletion |
MBD4-related disorder [RCV003981042]|not provided [RCV003682117] |
Chr3:129436705 [GRCh38] Chr3:129155548 [GRCh37] Chr3:3q21.3 |
pathogenic|likely pathogenic|benign |
NM_001276270.2(MBD4):c.22A>G (p.Ser8Gly) |
single nucleotide variant |
not provided [RCV003735545] |
Chr3:129439812 [GRCh38] Chr3:129158655 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1393+2T>C |
single nucleotide variant |
not provided [RCV003705472] |
Chr3:129433848 [GRCh38] Chr3:129152691 [GRCh37] Chr3:3q21.3 |
likely pathogenic |
NM_001276270.2(MBD4):c.266G>C (p.Gly89Ala) |
single nucleotide variant |
not provided [RCV003675796] |
Chr3:129437789 [GRCh38] Chr3:129156632 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1259-14C>T |
single nucleotide variant |
not provided [RCV003550255] |
Chr3:129433998 [GRCh38] Chr3:129152841 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1544-6C>T |
single nucleotide variant |
not provided [RCV003551926] |
Chr3:129432612 [GRCh38] Chr3:129151455 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.106A>G (p.Lys36Glu) |
single nucleotide variant |
not provided [RCV003729176] |
Chr3:129437949 [GRCh38] Chr3:129156792 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1479G>A (p.Val493=) |
single nucleotide variant |
not provided [RCV003733937] |
Chr3:129433162 [GRCh38] Chr3:129152005 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.319G>T (p.Asp107Tyr) |
single nucleotide variant |
not provided [RCV003704453] |
Chr3:129437736 [GRCh38] Chr3:129156579 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1019A>G (p.Lys340Arg) |
single nucleotide variant |
not provided [RCV003727283] |
Chr3:129436625 [GRCh38] Chr3:129155468 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1648-17T>G |
single nucleotide variant |
not provided [RCV003705830] |
Chr3:129431595 [GRCh38] Chr3:129150438 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.104+15C>T |
single nucleotide variant |
not provided [RCV003542156] |
Chr3:129439715 [GRCh38] Chr3:129158558 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1393+17C>G |
single nucleotide variant |
not provided [RCV003707337] |
Chr3:129433833 [GRCh38] Chr3:129152676 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.909C>T (p.Thr303=) |
single nucleotide variant |
not provided [RCV003678420] |
Chr3:129436735 [GRCh38] Chr3:129155578 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1495C>A (p.Pro499Thr) |
single nucleotide variant |
not provided [RCV003710117] |
Chr3:129433146 [GRCh38] Chr3:129151989 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.387C>A (p.His129Gln) |
single nucleotide variant |
not provided [RCV003710119] |
Chr3:129437257 [GRCh38] Chr3:129156100 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.37G>A (p.Asp13Asn) |
single nucleotide variant |
not provided [RCV003710874] |
Chr3:129439797 [GRCh38] Chr3:129158640 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1184-15A>G |
single nucleotide variant |
not provided [RCV003675515] |
Chr3:129434151 [GRCh38] Chr3:129152994 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.249dup (p.Lys84Ter) |
duplication |
not provided [RCV003707903] |
Chr3:129437805..129437806 [GRCh38] Chr3:129156648..129156649 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.1518G>A (p.Arg506=) |
single nucleotide variant |
not provided [RCV003707453] |
Chr3:129433123 [GRCh38] Chr3:129151966 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1249A>G (p.Asn417Asp) |
single nucleotide variant |
not provided [RCV003707617] |
Chr3:129434071 [GRCh38] Chr3:129152914 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.665A>T (p.Asp222Val) |
single nucleotide variant |
not provided [RCV003737292] |
Chr3:129436979 [GRCh38] Chr3:129155822 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.229dup (p.Thr77fs) |
duplication |
not provided [RCV003675661] |
Chr3:129437825..129437826 [GRCh38] Chr3:129156668..129156669 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.1183+1G>A |
single nucleotide variant |
not provided [RCV003551665] |
Chr3:129436460 [GRCh38] Chr3:129155303 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1271C>A (p.Pro424Gln) |
single nucleotide variant |
not provided [RCV003675764] |
Chr3:129433972 [GRCh38] Chr3:129152815 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1339T>C (p.Phe447Leu) |
single nucleotide variant |
not provided [RCV003737150] |
Chr3:129433904 [GRCh38] Chr3:129152747 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1365C>T (p.Ile455=) |
single nucleotide variant |
not provided [RCV003705312] |
Chr3:129433878 [GRCh38] Chr3:129152721 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1647+3G>A |
single nucleotide variant |
not provided [RCV003871346] |
Chr3:129432500 [GRCh38] Chr3:129151343 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1060G>A (p.Glu354Lys) |
single nucleotide variant |
not provided [RCV003705383] |
Chr3:129436584 [GRCh38] Chr3:129155427 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.335+11A>C |
single nucleotide variant |
not provided [RCV003552594] |
Chr3:129437709 [GRCh38] Chr3:129156552 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1462G>A (p.Ala488Thr) |
single nucleotide variant |
not provided [RCV003871683] |
Chr3:129433179 [GRCh38] Chr3:129152022 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.208G>A (p.Ala70Thr) |
single nucleotide variant |
not provided [RCV003556703] |
Chr3:129437847 [GRCh38] Chr3:129156690 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.251A>C (p.Lys84Thr) |
single nucleotide variant |
not provided [RCV003681883] |
Chr3:129437804 [GRCh38] Chr3:129156647 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.563T>C (p.Val188Ala) |
single nucleotide variant |
not provided [RCV003551471] |
Chr3:129437081 [GRCh38] Chr3:129155924 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1206G>A (p.Gln402=) |
single nucleotide variant |
not provided [RCV003722776] |
Chr3:129434114 [GRCh38] Chr3:129152957 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1229T>C (p.Leu410Pro) |
single nucleotide variant |
not provided [RCV003722936] |
Chr3:129434091 [GRCh38] Chr3:129152934 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.573G>A (p.Pro191=) |
single nucleotide variant |
not provided [RCV003712192] |
Chr3:129437071 [GRCh38] Chr3:129155914 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.167_169del (p.Lys56del) |
deletion |
not provided [RCV003722059] |
Chr3:129437886..129437888 [GRCh38] Chr3:129156729..129156731 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.260C>T (p.Pro87Leu) |
single nucleotide variant |
not provided [RCV003552595] |
Chr3:129437795 [GRCh38] Chr3:129156638 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1516C>G (p.Arg506Gly) |
single nucleotide variant |
not provided [RCV003681560] |
Chr3:129433125 [GRCh38] Chr3:129151968 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.980A>G (p.Gln327Arg) |
single nucleotide variant |
not provided [RCV003683622] |
Chr3:129436664 [GRCh38] Chr3:129155507 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1602T>C (p.Tyr534=) |
single nucleotide variant |
not provided [RCV003733589] |
Chr3:129432548 [GRCh38] Chr3:129151391 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.344G>T (p.Gly115Val) |
single nucleotide variant |
not provided [RCV003568719] |
Chr3:129437300 [GRCh38] Chr3:129156143 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1277G>A (p.Arg426His) |
single nucleotide variant |
not provided [RCV003734584] |
Chr3:129433966 [GRCh38] Chr3:129152809 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1184-11T>A |
single nucleotide variant |
not provided [RCV003676649] |
Chr3:129434147 [GRCh38] Chr3:129152990 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1634A>G (p.Asn545Ser) |
single nucleotide variant |
not provided [RCV003551316] |
Chr3:129432516 [GRCh38] Chr3:129151359 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1394-15A>C |
single nucleotide variant |
not provided [RCV003679909] |
Chr3:129433262 [GRCh38] Chr3:129152105 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.77T>G (p.Leu26Arg) |
single nucleotide variant |
not provided [RCV003682046] |
Chr3:129439757 [GRCh38] Chr3:129158600 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1647+11C>T |
single nucleotide variant |
not provided [RCV003675532] |
Chr3:129432492 [GRCh38] Chr3:129151335 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.232G>A (p.Ala78Thr) |
single nucleotide variant |
not provided [RCV003563393] |
Chr3:129437823 [GRCh38] Chr3:129156666 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.886T>C (p.Cys296Arg) |
single nucleotide variant |
not provided [RCV003819526] |
Chr3:129436758 [GRCh38] Chr3:129155601 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1323C>T (p.Leu441=) |
single nucleotide variant |
not provided [RCV003567576] |
Chr3:129433920 [GRCh38] Chr3:129152763 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.68G>A (p.Ser23Asn) |
single nucleotide variant |
not provided [RCV003728265] |
Chr3:129439766 [GRCh38] Chr3:129158609 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.681G>A (p.Lys227=) |
single nucleotide variant |
not provided [RCV003542813] |
Chr3:129436963 [GRCh38] Chr3:129155806 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1184-8C>G |
single nucleotide variant |
not provided [RCV003680042] |
Chr3:129434144 [GRCh38] Chr3:129152987 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1259-6_1259-3del |
microsatellite |
not provided [RCV003675965] |
Chr3:129433987..129433990 [GRCh38] Chr3:129152830..129152833 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1091T>G (p.Val364Gly) |
single nucleotide variant |
not provided [RCV003551912] |
Chr3:129436553 [GRCh38] Chr3:129155396 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.262T>C (p.Cys88Arg) |
single nucleotide variant |
not provided [RCV003709495] |
Chr3:129437793 [GRCh38] Chr3:129156636 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1393+20C>A |
single nucleotide variant |
not provided [RCV003567958] |
Chr3:129433830 [GRCh38] Chr3:129152673 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1679A>G (p.Tyr560Cys) |
single nucleotide variant |
not provided [RCV003550612] |
Chr3:129431547 [GRCh38] Chr3:129150390 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1447G>T (p.Glu483Ter) |
single nucleotide variant |
not provided [RCV003552263] |
Chr3:129433194 [GRCh38] Chr3:129152037 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.1033_1035del (p.Asn345del) |
deletion |
not provided [RCV003727437] |
Chr3:129436609..129436611 [GRCh38] Chr3:129155452..129155454 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1306C>T (p.Arg436Trp) |
single nucleotide variant |
not provided [RCV003705786] |
Chr3:129433937 [GRCh38] Chr3:129152780 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1183+5G>A |
single nucleotide variant |
not provided [RCV003568522] |
Chr3:129436456 [GRCh38] Chr3:129155299 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1259-6G>C |
single nucleotide variant |
not provided [RCV003550816] |
Chr3:129433990 [GRCh38] Chr3:129152833 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.78A>C (p.Leu26=) |
single nucleotide variant |
not provided [RCV003677773] |
Chr3:129439756 [GRCh38] Chr3:129158599 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.697G>A (p.Gly233Arg) |
single nucleotide variant |
not provided [RCV003566610] |
Chr3:129436947 [GRCh38] Chr3:129155790 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.104+5G>A |
single nucleotide variant |
not provided [RCV003733584] |
Chr3:129439725 [GRCh38] Chr3:129158568 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.336-1G>A |
single nucleotide variant |
not provided [RCV003993341] |
Chr3:129437309 [GRCh38] Chr3:129156152 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.220T>C (p.Phe74Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004416850] |
Chr3:129437835 [GRCh38] Chr3:129156678 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1647+60C>T |
single nucleotide variant |
MBD4-related disorder [RCV003963865] |
Chr3:129432443 [GRCh38] Chr3:129151286 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1456A>C (p.Arg486=) |
single nucleotide variant |
MBD4-related disorder [RCV003963934] |
Chr3:129433185 [GRCh38] Chr3:129152028 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.23G>T (p.Ser8Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004416851] |
Chr3:129439811 [GRCh38] Chr3:129158654 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1085T>G (p.Val362Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004416847] |
Chr3:129436559 [GRCh38] Chr3:129155402 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.1469G>A (p.Trp490Ter) |
single nucleotide variant |
MBD4-related disorder [RCV003896710] |
Chr3:129433172 [GRCh38] Chr3:129152015 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NC_000003.11:g.(?_129150344)_(129158676_?)del |
deletion |
not provided [RCV004582278] |
Chr3:129150344..129158676 [GRCh37] Chr3:3q21.3 |
pathogenic |
NM_001276270.2(MBD4):c.770T>C (p.Phe257Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004636605] |
Chr3:129436874 [GRCh38] Chr3:129155717 [GRCh37] Chr3:3q21.3 |
likely benign |
NM_001276270.2(MBD4):c.1568A>C (p.Lys523Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004636604] |
Chr3:129432582 [GRCh38] Chr3:129151425 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NC_000003.12:g.129439794G>A |
single nucleotide variant |
not provided [RCV004769891] |
Chr3:129439794 [GRCh38] Chr3:129158637 [GRCh37] Chr3:3q21.3 |
uncertain significance |
NM_001276270.2(MBD4):c.620T>C (p.Phe207Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003379398] |
Chr3:129437024 [GRCh38] Chr3:129155867 [GRCh37] Chr3:3q21.3 |
uncertain significance |