| NM_001378120.1(MBD5):c.502T>C (p.Phe168Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000544331] |
Chr2:148468445 [GRCh38]
Chr2:149226014 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.276A>G (p.Ala92=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001079904]|not provided [RCV000726644]|not specified [RCV000518582] |
Chr2:148463798 [GRCh38]
Chr2:149221367 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.3951C>T (p.Ser1317=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001851445]|not provided [RCV004546512]|not specified [RCV000518051] |
Chr2:148489583 [GRCh38]
Chr2:149247152 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2170G>A (p.Gly724Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000545073] |
Chr2:148470113 [GRCh38]
Chr2:149227682 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NG_017003.3:g.262835_474705del |
deletion |
Intellectual disability, autosomal dominant 1 [RCV000000969] |
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1549C>T (p.Gln517Ter) |
single nucleotide variant |
MBD5 associated neurodevelopmental disorder [RCV003226341]|not provided [RCV000627379] |
Chr2:148469492 [GRCh38]
Chr2:149227061 [GRCh37]
Chr2:2q23.1 |
pathogenic|likely pathogenic |
| NM_001378120.1(MBD5):c.1114_1115dup (p.Asn372fs) |
duplication |
not provided [RCV000521669] |
Chr2:148469056..148469057 [GRCh38]
Chr2:149226625..149226626 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2633del (p.Pro878fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV000547749] |
Chr2:148483222 [GRCh38]
Chr2:149240791 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_018328.4(MBD5):c.-924-19798T>G |
single nucleotide variant |
Lung cancer [RCV000091542] |
Chr2:148158902 [GRCh38]
Chr2:148916471 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_018328.4(MBD5):c.-556-46059T>C |
single nucleotide variant |
Lung cancer [RCV000091544] |
Chr2:148412144 [GRCh38]
Chr2:149169713 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.150del (p.Thr52fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV000074465] |
Chr2:148462617 [GRCh38]
Chr2:149220186 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| MBD5, THR157GLNFSTER4 |
variation |
Intellectual disability, autosomal dominant 1 [RCV000054515] |
Chr2:2q23.1 |
pathogenic |
| GRCh38/hg38 2q22.3-23.1(chr2:147713771-148177277)x1 |
copy number loss |
See cases [RCV000050790] |
Chr2:147713771..148177277 [GRCh38]
Chr2:148471340..148934846 [GRCh37]
Chr2:148187810..148651316 [NCBI36]
Chr2:2q22.3-23.1 |
likely pathogenic|uncertain significance |
| GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1 |
copy number loss |
See cases [RCV000054090] |
Chr2:147251948..157856378 [GRCh38]
Chr2:148009516..158712890 [GRCh37]
Chr2:147725986..158421136 [NCBI36]
Chr2:2q22.3-24.1 |
pathogenic |
| GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1 |
copy number loss |
See cases [RCV000054091] |
Chr2:147590324..153496674 [GRCh38]
Chr2:148347892..154353187 [GRCh37]
Chr2:148064362..154061433 [NCBI36]
Chr2:2q22.3-23.3 |
pathogenic |
| GRCh38/hg38 2q23.1-23.3(chr2:148303135-153274626)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054092]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054092]|See cases [RCV000054092] |
Chr2:148303135..153274626 [GRCh38]
Chr2:149060704..154131140 [GRCh37]
Chr2:148777174..153839386 [NCBI36]
Chr2:2q23.1-23.3 |
pathogenic |
| GRCh38/hg38 2q22.3-23.1(chr2:147251948-148349192)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053809]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053809]|See cases [RCV000053809] |
Chr2:147251948..148349192 [GRCh38]
Chr2:148009516..149106761 [GRCh37]
Chr2:147725986..148823231 [NCBI36]
Chr2:2q22.3-23.1 |
likely pathogenic |
| NM_018328.4(MBD5):c.1405C>T (p.His469Tyr) |
single nucleotide variant |
Malignant melanoma [RCV000060347] |
Chr2:148469348 [GRCh38]
Chr2:149226917 [GRCh37]
Chr2:148943387 [NCBI36]
Chr2:2q23.1 |
not provided |
| NM_018328.4(MBD5):c.3043C>T (p.Gln1015Ter) |
single nucleotide variant |
Malignant melanoma [RCV000060348] |
Chr2:148485939 [GRCh38]
Chr2:149243508 [GRCh37]
Chr2:148959978 [NCBI36]
Chr2:2q23.1 |
not provided |
| NM_018328.4(MBD5):c.4467G>A (p.Arg1489=) |
single nucleotide variant |
Malignant melanoma [RCV000060349] |
Chr2:148512923 [GRCh38]
Chr2:149270492 [GRCh37]
Chr2:148986962 [NCBI36]
Chr2:2q23.1 |
not provided |
| NM_018328.4(MBD5):c.386G>A (p.Gly129Glu) |
single nucleotide variant |
Malignant melanoma [RCV000065104] |
Chr2:148463908 [GRCh38]
Chr2:149221477 [GRCh37]
Chr2:148937947 [NCBI36]
Chr2:2q23.1 |
not provided |
| NM_018328.4(MBD5):c.2570C>T (p.Ala857Val) |
single nucleotide variant |
Malignant melanoma [RCV000065105] |
Chr2:148483161 [GRCh38]
Chr2:149240730 [GRCh37]
Chr2:148957200 [NCBI36]
Chr2:2q23.1 |
not provided |
| NM_001378120.1(MBD5):c.1962C>A (p.Asp654Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000664041] |
Chr2:148469905 [GRCh38]
Chr2:149227474 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.431C>T (p.Thr144Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000664044] |
Chr2:148468374 [GRCh38]
Chr2:149225943 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.904A>G (p.Thr302Ala) |
single nucleotide variant |
not provided [RCV000087233] |
Chr2:148468847 [GRCh38]
Chr2:149226416 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000765517]|not provided [RCV000188086] |
Chr2:148469780 [GRCh38]
Chr2:149227349 [GRCh37]
Chr2:2q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.1955A>G (p.Gln652Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001854437]|not provided [RCV000081946] |
Chr2:148469898 [GRCh38]
Chr2:149227467 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002311690]|Intellectual disability, autosomal dominant 1 [RCV000461555]|MBD5-related disorder [RCV003891569]|not provided [RCV001705777]|not specified [RCV000186637] |
Chr2:148469973 [GRCh38]
Chr2:149227542 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_001378120.1(MBD5):c.2101A>G (p.Met701Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002513841]|not provided [RCV000081948] |
Chr2:148470044 [GRCh38]
Chr2:149227613 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002311691]|Intellectual disability, autosomal dominant 1 [RCV000986827]|not provided [RCV001719844]|not specified [RCV000081949] |
Chr2:148483196 [GRCh38]
Chr2:149240765 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.2711G>A (p.Ser904Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003129774]|not provided [RCV000081950] |
Chr2:148483302 [GRCh38]
Chr2:149240871 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.323C>T (p.Ala108Val) |
single nucleotide variant |
Intellectual disability [RCV001251826] |
Chr2:148463845 [GRCh38]
Chr2:149221414 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.-556-8T>C |
single nucleotide variant |
not provided [RCV003311686]|not specified [RCV000126690] |
Chr2:148458195 [GRCh38]
Chr2:149215764 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.297A>G (p.Leu99=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312576]|Intellectual disability, autosomal dominant 1 [RCV000465274]|MBD5-related disorder [RCV003905207]|not provided [RCV003436946]|not specified [RCV000126691] |
Chr2:148463819 [GRCh38]
Chr2:149221388 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.398-12C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002055670]|not specified [RCV000126692] |
Chr2:148468329 [GRCh38]
Chr2:149225898 [GRCh37]
Chr2:2q23.1 |
benign|uncertain significance |
| NM_001378120.1(MBD5):c.1368G>T (p.Ser456=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312903]|Intellectual disability, autosomal dominant 1 [RCV000463433]|not provided [RCV001529593]|not specified [RCV000126693] |
Chr2:148469311 [GRCh38]
Chr2:149226880 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.1596A>G (p.Val532=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312904]|Intellectual disability, autosomal dominant 1 [RCV001080979]|not provided [RCV000533382]|not specified [RCV000126694] |
Chr2:148469539 [GRCh38]
Chr2:149227108 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.2519-18T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002055671]|not provided [RCV004708035]|not specified [RCV000126695] |
Chr2:148483092 [GRCh38]
Chr2:149240661 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.3942T>A (p.Gly1314=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312577]|Intellectual disability, autosomal dominant 1 [RCV000456339]|not provided [RCV004808585]|not specified [RCV000126696] |
Chr2:148489574 [GRCh38]
Chr2:149247143 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002321611]|Intellectual disability, autosomal dominant 1 [RCV001087274]|not provided [RCV000513756]|not specified [RCV000126697] |
Chr2:148489641 [GRCh38]
Chr2:149247210 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002317001]|Intellectual disability, autosomal dominant 1 [RCV001079154]|MBD5-related disorder [RCV003937556]|not provided [RCV000514989]|not specified [RCV000174142] |
Chr2:148485940 [GRCh38]
Chr2:149243509 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.1A>G (p.Met1Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001004756] |
Chr2:148458759 [GRCh38]
Chr2:149216328 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.340_347del (p.Lys114fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV000180349]|not provided [RCV000724070] |
Chr2:148463859..148463866 [GRCh38]
Chr2:149221428..149221435 [GRCh37]
Chr2:2q23.1 |
pathogenic|not provided |
| NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314680]|Intellectual disability, autosomal dominant 1 [RCV000232364]|not provided [RCV001532411]|not specified [RCV000180665] |
Chr2:148469581 [GRCh38]
Chr2:149227150 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001378120.1(MBD5):c.5153C>T (p.Pro1718Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001332253] |
Chr2:148512910 [GRCh38]
Chr2:149270479 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3551T>C (p.Met1184Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002042310] |
Chr2:148485748 [GRCh38]
Chr2:149243317 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2840G>A (p.Gly947Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000515360]|not provided [RCV000724094]|not specified [RCV004782283] |
Chr2:148483431 [GRCh38]
Chr2:149241000 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4271A>G (p.His1424Arg) |
single nucleotide variant |
not provided [RCV000174385] |
Chr2:148489903 [GRCh38]
Chr2:149247472 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4304G>A (p.Ser1435Asn) |
single nucleotide variant |
not provided [RCV000174386] |
Chr2:148489936 [GRCh38]
Chr2:149247505 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4475T>G (p.Ile1492Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001468644]|not provided [RCV000174387] |
Chr2:148490107 [GRCh38]
Chr2:149247676 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000702921]|not provided [RCV000724687] |
Chr2:148485799 [GRCh38]
Chr2:149243368 [GRCh37]
Chr2:2q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3 |
copy number gain |
See cases [RCV000135402] |
Chr2:143900149..158321624 [GRCh38]
Chr2:144657717..159178136 [GRCh37]
Chr2:144374187..158886382 [NCBI36]
Chr2:2q22.3-24.1 |
pathogenic |
| GRCh38/hg38 2q22.3-23.2(chr2:147473194-149279840)x3 |
copy number gain |
See cases [RCV000135391] |
Chr2:147473194..149279840 [GRCh38]
Chr2:148230762..150136354 [GRCh37]
Chr2:147947232..149844600 [NCBI36]
Chr2:2q22.3-23.2 |
uncertain significance |
| GRCh38/hg38 2q22.3-23.1(chr2:147783116-148948475)x1 |
copy number loss |
See cases [RCV000135730] |
Chr2:147783116..148948475 [GRCh38]
Chr2:148540685..149804989 [GRCh37]
Chr2:148257155..149513235 [NCBI36]
Chr2:2q22.3-23.1 |
pathogenic |
| GRCh38/hg38 2q23.1(chr2:147969499-148122112)x1 |
copy number loss |
See cases [RCV000137434] |
Chr2:147969499..148122112 [GRCh38]
Chr2:148727068..148879681 [GRCh37]
Chr2:148443538..148596151 [NCBI36]
Chr2:2q23.1 |
likely pathogenic |
| GRCh38/hg38 2q23.1(chr2:148440874-148677035)x3 |
copy number gain |
See cases [RCV000137687] |
Chr2:148440874..148677035 [GRCh38]
Chr2:149198443..149434604 [GRCh37]
Chr2:148914913..149151074 [NCBI36]
Chr2:2q23.1 |
uncertain significance |
| GRCh38/hg38 2q23.1(chr2:148029482-148303194)x1 |
copy number loss |
See cases [RCV000137961] |
Chr2:148029482..148303194 [GRCh38]
Chr2:148787051..149060763 [GRCh37]
Chr2:148503521..148777233 [NCBI36]
Chr2:2q23.1 |
uncertain significance |
| GRCh38/hg38 2q23.1(chr2:148177218-148220153)x1 |
copy number loss |
See cases [RCV000138682] |
Chr2:148177218..148220153 [GRCh38]
Chr2:148934787..148977722 [GRCh37]
Chr2:148651257..148694192 [NCBI36]
Chr2:2q23.1 |
likely pathogenic |
| GRCh38/hg38 2q22.3-23.1(chr2:147680433-148220153)x1 |
copy number loss |
See cases [RCV000138959] |
Chr2:147680433..148220153 [GRCh38]
Chr2:148438001..148977722 [GRCh37]
Chr2:148154471..148694192 [NCBI36]
Chr2:2q22.3-23.1 |
likely pathogenic |
| GRCh38/hg38 2q23.1-23.2(chr2:148440874-149091788)x1 |
copy number loss |
See cases [RCV000139619] |
Chr2:148440874..149091788 [GRCh38]
Chr2:149198443..149948302 [GRCh37]
Chr2:148914913..149656548 [NCBI36]
Chr2:2q23.1-23.2 |
pathogenic |
| GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1 |
copy number loss |
See cases [RCV000141056] |
Chr2:145471053..149582570 [GRCh38]
Chr2:146228621..150439084 [GRCh37]
Chr2:145945091..150147330 [NCBI36]
Chr2:2q22.3-23.2 |
pathogenic |
| GRCh38/hg38 2q22.3-23.1(chr2:147732899-148156266)x1 |
copy number loss |
See cases [RCV000141943] |
Chr2:147732899..148156266 [GRCh38]
Chr2:148490468..148913835 [GRCh37]
Chr2:148206938..148630305 [NCBI36]
Chr2:2q22.3-23.1 |
pathogenic |
| GRCh38/hg38 2q23.1(chr2:147988713-148069129)x1 |
copy number loss |
See cases [RCV000142068] |
Chr2:147988713..148069129 [GRCh38]
Chr2:148746282..148826698 [GRCh37]
Chr2:148462752..148543168 [NCBI36]
Chr2:2q23.1 |
likely pathogenic |
| GRCh38/hg38 2q23.1(chr2:148052791-148429544)x3 |
copy number gain |
See cases [RCV000142213] |
Chr2:148052791..148429544 [GRCh38]
Chr2:148810360..149187113 [GRCh37]
Chr2:148526830..148903583 [NCBI36]
Chr2:2q23.1 |
uncertain significance |
| GRCh38/hg38 2q23.1(chr2:147986311-148198151)x1 |
copy number loss |
See cases [RCV000143005] |
Chr2:147986311..148198151 [GRCh38]
Chr2:148743880..148955720 [GRCh37]
Chr2:148460350..148672190 [NCBI36]
Chr2:2q23.1 |
pathogenic |
| GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3 |
copy number gain |
See cases [RCV000142582] |
Chr2:146324191..156219125 [GRCh38]
Chr2:147081759..157075637 [GRCh37]
Chr2:146798229..156783883 [NCBI36]
Chr2:2q22.3-24.1 |
pathogenic |
| GRCh38/hg38 2q23.1(chr2:147969499-148102235)x3 |
copy number gain |
See cases [RCV000142799] |
Chr2:147969499..148102235 [GRCh38]
Chr2:148727068..148859804 [GRCh37]
Chr2:148443538..148576274 [NCBI36]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2314A>C (p.Asn772His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000474689]|not provided [RCV001719951]|not specified [RCV000153457] |
Chr2:148470257 [GRCh38]
Chr2:149227826 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.3978C>T (p.Val1326=) |
single nucleotide variant |
Inborn genetic diseases [RCV002444633]|Intellectual disability, autosomal dominant 1 [RCV000467788]|not provided [RCV001709503]|not specified [RCV000153458] |
Chr2:148489610 [GRCh38]
Chr2:149247179 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.720G>A (p.Arg240=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001431873]|not provided [RCV000153455] |
Chr2:148468663 [GRCh38]
Chr2:149226232 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.1570C>T (p.Pro524Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000705010]|not provided [RCV000153456] |
Chr2:148469513 [GRCh38]
Chr2:149227082 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4193G>A (p.Arg1398Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000685577]|not provided [RCV000153459] |
Chr2:148489825 [GRCh38]
Chr2:149247394 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4586G>A (p.Arg1529Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002516080]|not provided [RCV000153460] |
Chr2:148490218 [GRCh38]
Chr2:149247787 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=) |
single nucleotide variant |
Inborn genetic diseases [RCV002327028]|Intellectual disability, autosomal dominant 1 [RCV000765519]|not provided [RCV000866097]|not specified [RCV000192328] |
Chr2:148490489 [GRCh38]
Chr2:149248058 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NC_000002.10:g.148447496_149377297del |
deletion |
Intellectual disability, autosomal dominant 1 [RCV000162197] |
Chr2:147973457..148903258 [GRCh38]
Chr2:148731026..149660827 [GRCh37]
Chr2:148447496..149377297 [NCBI36]
Chr2:2q23.1 |
pathogenic |
| NC_000002.10:g.(148432391_148447295)_(148651456_148737275)del |
deletion |
Intellectual disability, autosomal dominant 1 [RCV000162199] |
Chr2:147973256..148177417 [GRCh38]
Chr2:148730825..148934986 [GRCh37]
Chr2:148447295..148651456 [NCBI36]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.267T>C (p.Asp89=) |
single nucleotide variant |
Inborn genetic diseases [RCV002426926]|Intellectual disability, autosomal dominant 1 [RCV000560302]|not provided [RCV001556014]|not specified [RCV000192431] |
Chr2:148463789 [GRCh38]
Chr2:149221358 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2173G>T (p.Ala725Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002517097]|not specified [RCV000193285] |
Chr2:148470116 [GRCh38]
Chr2:149227685 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1141T>C (p.Phe381Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000697623]|not provided [RCV001721257]|not specified [RCV000193393] |
Chr2:148469084 [GRCh38]
Chr2:149226653 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000689447]|Seizure [RCV000781977]|not provided [RCV001539195]|not specified [RCV000193640] |
Chr2:148483380 [GRCh38]
Chr2:149240949 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4671T>C (p.Ser1557=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005089981]|not specified [RCV000194862] |
Chr2:148490303 [GRCh38]
Chr2:149247872 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.69G>A (p.Val23=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314662]|Intellectual disability, autosomal dominant 1 [RCV001083053]|MBD5-related disorder [RCV003927683]|not provided [RCV000724527] |
Chr2:148458827 [GRCh38]
Chr2:149216396 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.8G>T (p.Gly3Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002517752]|not provided [RCV000179501] |
Chr2:148458766 [GRCh38]
Chr2:149216335 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002314674]|Intellectual disability, autosomal dominant 1 [RCV000470089]|MBD5 associated neurodevelopmental disorder [RCV000455290]|MBD5-related disorder [RCV003907633]|not provided [RCV000712260]|not specified [RCV000188125] |
Chr2:148463758 [GRCh38]
Chr2:149221327 [GRCh37]
Chr2:2q23.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
| NM_001378120.1(MBD5):c.2279A>G (p.His760Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002317066]|Intellectual disability, autosomal dominant 1 [RCV000529230]|MBD5-related disorder [RCV003955102]|not provided [RCV000180660] |
Chr2:148470222 [GRCh38]
Chr2:149227791 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002516826]|Intellectual disability, autosomal dominant 1 [RCV001086087]|not provided [RCV000724600]|not specified [RCV000188072] |
Chr2:148468739 [GRCh38]
Chr2:149226308 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002354466]|Intellectual disability, autosomal dominant 1 [RCV000468202]|developmental delay with intractable seizures [RCV000678818]|not provided [RCV000724572] |
Chr2:148468542 [GRCh38]
Chr2:149226111 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002362927]|Intellectual disability, autosomal dominant 1 [RCV001087689]|MBD5-related disorder [RCV003947541]|not provided [RCV000724602]|not specified [RCV000180663] |
Chr2:148468635 [GRCh38]
Chr2:149226204 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.1406A>G (p.His469Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002390445]|Intellectual disability, autosomal dominant 1 [RCV001050057]|not provided [RCV000180664] |
Chr2:148469349 [GRCh38]
Chr2:149226918 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1094C>T (p.Pro365Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600365]|not provided [RCV000180666] |
Chr2:148469037 [GRCh38]
Chr2:149226606 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.980T>C (p.Met327Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000696168]|not provided [RCV000723968] |
Chr2:148468923 [GRCh38]
Chr2:149226492 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.664C>T (p.Pro222Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005089903]|not provided [RCV000180668] |
Chr2:148468607 [GRCh38]
Chr2:149226176 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2454G>A (p.Thr818=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002523085]|not specified [RCV000610093] |
Chr2:148470397 [GRCh38]
Chr2:149227966 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.3673C>A (p.Leu1225Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002949302] |
Chr2:148485870 [GRCh38]
Chr2:149243439 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.908T>G (p.Leu303Trp) |
single nucleotide variant |
not specified [RCV000193531] |
Chr2:148468851 [GRCh38]
Chr2:149226420 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.-831+9dup |
duplication |
Intellectual Disability, Dominant [RCV000270835]|not provided [RCV003436979]|not specified [RCV000188058] |
Chr2:148178801..148178802 [GRCh38]
Chr2:148936370..148936371 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.488A>G (p.Glu163Gly) |
single nucleotide variant |
not provided [RCV000188067] |
Chr2:148468431 [GRCh38]
Chr2:149226000 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.740C>T (p.Pro247Leu) |
single nucleotide variant |
not provided [RCV000188070] |
Chr2:148468683 [GRCh38]
Chr2:149226252 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.800A>G (p.His267Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495022] |
Chr2:148468743 [GRCh38]
Chr2:149226312 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1381C>T (p.Arg461Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001894741] |
Chr2:148469324 [GRCh38]
Chr2:149226893 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1645A>T (p.Ser549Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005172981] |
Chr2:148469588 [GRCh38]
Chr2:149227157 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2000T>G (p.Leu667Trp) |
single nucleotide variant |
not provided [RCV000188091] |
Chr2:148469943 [GRCh38]
Chr2:149227512 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2413A>C (p.Asn805His) |
single nucleotide variant |
See cases [RCV002252034]|not provided [RCV000188097] |
Chr2:148470356 [GRCh38]
Chr2:149227925 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2431C>A (p.Pro811Thr) |
single nucleotide variant |
not provided [RCV000188098] |
Chr2:148470374 [GRCh38]
Chr2:149227943 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_018328.4(MBD5):c.100G>A (p.Val34Met) |
single nucleotide variant |
not specified [RCV000188106] |
Chr2:148458858 [GRCh38]
Chr2:149216427 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3904C>A (p.Gln1302Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600368]|not provided [RCV000188110] |
Chr2:148489536 [GRCh38]
Chr2:149247105 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_018328.4(MBD5):c.3346C>A (p.Pro1116Thr) |
single nucleotide variant |
not specified [RCV000188111] |
Chr2:148489677 [GRCh38]
Chr2:149247246 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4060A>G (p.Ser1354Gly) |
single nucleotide variant |
not provided [RCV000188112] |
Chr2:148489692 [GRCh38]
Chr2:149247261 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4075T>C (p.Phe1359Leu) |
single nucleotide variant |
not provided [RCV000188113] |
Chr2:148489707 [GRCh38]
Chr2:149247276 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.890_891del (p.Ile297fs) |
microsatellite |
Intellectual disability, autosomal dominant 1 [RCV000258468]|not provided [RCV000188124] |
Chr2:148468830..148468831 [GRCh38]
Chr2:149226399..149226400 [GRCh37]
Chr2:2q23.1 |
pathogenic|not provided |
| NM_001378120.1(MBD5):c.1147T>C (p.Ser383Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001427712] |
Chr2:148469090 [GRCh38]
Chr2:149226659 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2122A>G (p.Met708Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001202657]|not provided [RCV000188128] |
Chr2:148470065 [GRCh38]
Chr2:149227634 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_018328.4(MBD5):c.4157G>A (p.Gly1386Asp) |
single nucleotide variant |
not specified [RCV000188135] |
Chr2:148490488 [GRCh38]
Chr2:149248057 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.217-16G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002056970]|not specified [RCV000188059] |
Chr2:148463723 [GRCh38]
Chr2:149221292 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.2177C>T (p.Ser726Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001037916] |
Chr2:148470120 [GRCh38]
Chr2:149227689 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2274C>T (p.Ala758=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002054211]|not specified [RCV000188061] |
Chr2:148470217 [GRCh38]
Chr2:149227786 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.3754-9T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000230037]|MBD5-related disorder [RCV003907659]|not provided [RCV003436980]|not specified [RCV000188062] |
Chr2:148489377 [GRCh38]
Chr2:149246946 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.4401C>T (p.Val1467=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314728]|Intellectual disability, autosomal dominant 1 [RCV001086218]|not provided [RCV000712261]|not specified [RCV000188063] |
Chr2:148490033 [GRCh38]
Chr2:149247602 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001378120.1(MBD5):c.4732G>A (p.Val1578Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645264]|not specified [RCV000188064] |
Chr2:148490364 [GRCh38]
Chr2:149247933 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4963-11C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002054212]|not specified [RCV000188065] |
Chr2:148502425 [GRCh38]
Chr2:149259994 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.205A>G (p.Ile69Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003765195]|not provided [RCV000767156]|not specified [RCV000188066] |
Chr2:148462673 [GRCh38]
Chr2:149220242 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.520T>A (p.Ser174Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001493072]|Microcephaly [RCV001252862]|not provided [RCV000188068] |
Chr2:148468463 [GRCh38]
Chr2:149226032 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.644G>A (p.Arg215His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001459120]|not provided [RCV000188069]|not specified [RCV002247603] |
Chr2:148468587 [GRCh38]
Chr2:149226156 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.785A>G (p.Asn262Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034372] |
Chr2:148468728 [GRCh38]
Chr2:149226297 [GRCh37]
Chr2:2q23.1 |
benign|uncertain significance |
| NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002314729]|Intellectual disability, autosomal dominant 1 [RCV000694397]|not provided [RCV001705020] |
Chr2:148468827 [GRCh38]
Chr2:149226396 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.961A>G (p.Met321Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002314730]|Intellectual disability, autosomal dominant 1 [RCV000694398]|not provided [RCV001705021] |
Chr2:148468904 [GRCh38]
Chr2:149226473 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.935A>T (p.Lys312Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645267]|not provided [RCV001705022] |
Chr2:148468878 [GRCh38]
Chr2:149226447 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1055C>T (p.Thr352Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000865608]|MBD5-related disorder [RCV003967479]|not provided [RCV001508082] |
Chr2:148468998 [GRCh38]
Chr2:149226567 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002314731]|Intellectual Disability, Dominant [RCV000364648]|Intellectual disability, autosomal dominant 1 [RCV000474532]|MBD5-related disorder [RCV003927742]|not provided [RCV003884382]|not specified [RCV000188079] |
Chr2:148469054 [GRCh38]
Chr2:149226623 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.1232C>T (p.Thr411Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001493869]|not provided [RCV000188080] |
Chr2:148469175 [GRCh38]
Chr2:149226744 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.1510A>G (p.Met504Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000465911] |
Chr2:148469453 [GRCh38]
Chr2:149227022 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1535C>T (p.Ser512Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002317120]|Intellectual disability, autosomal dominant 1 [RCV000645274]|not provided [RCV001705023]|not specified [RCV004998397] |
Chr2:148469478 [GRCh38]
Chr2:149227047 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1591A>G (p.Asn531Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004020276]|Intellectual disability, autosomal dominant 1 [RCV001067655]|MBD5-related disorder [RCV003895225]|not provided [RCV001721205] |
Chr2:148469534 [GRCh38]
Chr2:149227103 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1961A>T (p.Asp654Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004639167]|Intellectual disability, autosomal dominant 1 [RCV000645285]|not provided [RCV001705024] |
Chr2:148469904 [GRCh38]
Chr2:149227473 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1963G>A (p.Ala655Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000554014]|not provided [RCV000188088] |
Chr2:148469906 [GRCh38]
Chr2:149227475 [GRCh37]
Chr2:2q23.1 |
benign|uncertain significance |
| NM_001378120.1(MBD5):c.1991C>T (p.Thr664Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002922097]|not provided [RCV003883850] |
Chr2:148469934 [GRCh38]
Chr2:149227503 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1999T>A (p.Leu667Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003765196]|not provided [RCV000188090] |
Chr2:148469942 [GRCh38]
Chr2:149227511 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2162C>T (p.Pro721Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002314732]|Intellectual disability, autosomal dominant 1 [RCV000530172]|not provided [RCV001721206]|not specified [RCV001818454] |
Chr2:148470105 [GRCh38]
Chr2:149227674 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_018328.4(MBD5):c.2173G>A (p.Ala725Thr) |
single nucleotide variant |
not specified [RCV000188093] |
Chr2:148470116 [GRCh38]
Chr2:149227685 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2196C>G (p.Cys732Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001222534]|not provided [RCV000188094] |
Chr2:148470139 [GRCh38]
Chr2:149227708 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2257C>A (p.Pro753Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000686657]|not provided [RCV000188095] |
Chr2:148470200 [GRCh38]
Chr2:149227769 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2399G>A (p.Gly800Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002426907]|Intellectual disability, autosomal dominant 1 [RCV001080557]|not provided [RCV000188096] |
Chr2:148470342 [GRCh38]
Chr2:149227911 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.2632C>A (p.Pro878Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600367]|not provided [RCV000188099] |
Chr2:148483223 [GRCh38]
Chr2:149240792 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2645A>T (p.Gln882Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001334015]|not provided [RCV000188100] |
Chr2:148483236 [GRCh38]
Chr2:149240805 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2689G>T (p.Ala897Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002517875]|Intellectual disability, autosomal dominant 1 [RCV001034481] |
Chr2:148483280 [GRCh38]
Chr2:149240849 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2828A>G (p.Gln943Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000765518]|not provided [RCV000188102] |
Chr2:148483419 [GRCh38]
Chr2:149240988 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3680C>T (p.Ala1227Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001364510]|not provided [RCV000188105] |
Chr2:148485877 [GRCh38]
Chr2:149243446 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3786C>G (p.Asn1262Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004984737]|Intellectual disability, autosomal dominant 1 [RCV000645279]|not provided [RCV000188107] |
Chr2:148489418 [GRCh38]
Chr2:149246987 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.3793A>T (p.Ile1265Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003278687]|Intellectual disability, autosomal dominant 1 [RCV000526710] |
Chr2:148489425 [GRCh38]
Chr2:149246994 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002311275]|Intellectual disability, autosomal dominant 1 [RCV001084711]|MBD5 associated neurodevelopmental disorder [RCV000456009]|MBD5-related disorder [RCV003937661]|not provided [RCV000725184]|not specified [RCV000188109] |
Chr2:148489474 [GRCh38]
Chr2:149247043 [GRCh37]
Chr2:2q23.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
| NM_001378120.1(MBD5):c.4121G>A (p.Ser1374Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002517876]|not provided [RCV001721207] |
Chr2:148489753 [GRCh38]
Chr2:149247322 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4138C>T (p.Arg1380Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002517877]|Intellectual disability, autosomal dominant 1 [RCV001231520]|not provided [RCV000188115] |
Chr2:148489770 [GRCh38]
Chr2:149247339 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4189G>A (p.Ala1397Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002514020]|Intellectual disability, autosomal dominant 1 [RCV001034388]|not provided [RCV001721208] |
Chr2:148489821 [GRCh38]
Chr2:149247390 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004984738]|Intellectual disability, autosomal dominant 1 [RCV000472716]|not provided [RCV000188117] |
Chr2:148489870 [GRCh38]
Chr2:149247439 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.4294G>A (p.Gly1432Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645286]|not provided [RCV001705025] |
Chr2:148489926 [GRCh38]
Chr2:149247495 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4466G>A (p.Gly1489Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034005]|not provided [RCV000188119] |
Chr2:148490098 [GRCh38]
Chr2:149247667 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.4595G>A (p.Arg1532Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002317121]|Intellectual disability, autosomal dominant 1 [RCV000645293]|MBD5-related disorder [RCV003917715]|not provided [RCV001711481] |
Chr2:148490227 [GRCh38]
Chr2:149247796 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4837C>T (p.Pro1613Ser) |
single nucleotide variant |
not provided [RCV000188121] |
Chr2:148490469 [GRCh38]
Chr2:149248038 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4951G>A (p.Glu1651Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034518]|not provided [RCV000188122]|not specified [RCV001818455] |
Chr2:148490583 [GRCh38]
Chr2:149248152 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.5015G>A (p.Arg1672His) |
single nucleotide variant |
Inborn genetic diseases [RCV002327012]|Intellectual disability, autosomal dominant 1 [RCV001504042]|not provided [RCV001705026] |
Chr2:148502488 [GRCh38]
Chr2:149260057 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1382G>A (p.Arg461His) |
single nucleotide variant |
Inborn genetic diseases [RCV002517878]|Intellectual disability, autosomal dominant 1 [RCV000551392]|MBD5-related disorder [RCV003907660]|not provided [RCV001532410] |
Chr2:148469325 [GRCh38]
Chr2:149226894 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.2632C>G (p.Pro878Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001852473]|not provided [RCV000188129] |
Chr2:148483223 [GRCh38]
Chr2:149240792 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His) |
single nucleotide variant |
Bilateral tonic-clonic seizure [RCV000678819]|Inborn genetic diseases [RCV004020277]|Intellectual disability, autosomal dominant 1 [RCV000549124]|MBD5-related disorder [RCV003947576]|not provided [RCV000727202] |
Chr2:148485875 [GRCh38]
Chr2:149243444 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.4054G>T (p.Ala1352Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000461798]|not specified [RCV000188132] |
Chr2:148489686 [GRCh38]
Chr2:149247255 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4084T>C (p.Ser1362Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002516997]|Intellectual disability, autosomal dominant 1 [RCV000686863]|not provided [RCV000188133] |
Chr2:148489716 [GRCh38]
Chr2:149247285 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4139G>A (p.Arg1380Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004984739]|Intellectual disability, autosomal dominant 1 [RCV000802788]|not provided [RCV001721209] |
Chr2:148489771 [GRCh38]
Chr2:149247340 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.3851C>A (p.Pro1284His) |
single nucleotide variant |
Inborn genetic diseases [RCV004637728]|Intellectual disability, autosomal dominant 1 [RCV005102282] |
Chr2:148489483 [GRCh38]
Chr2:149247052 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4319G>A (p.Arg1440Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004984829]|Intellectual disability, autosomal dominant 1 [RCV001850778]|not specified [RCV000605600] |
Chr2:148489951 [GRCh38]
Chr2:149247520 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148777552-148991171)x1 |
copy number loss |
See cases [RCV000240099] |
Chr2:148777552..148991171 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1602T>C (p.Asn534=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001503237] |
Chr2:148469545 [GRCh38]
Chr2:149227114 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.440C>G (p.Ser147Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000258320]|not provided [RCV000478489] |
Chr2:148468383 [GRCh38]
Chr2:149225952 [GRCh37]
Chr2:2q23.1 |
pathogenic|not provided |
| NM_001378120.1(MBD5):c.4920C>T (p.Asp1640=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001498778]|not specified [RCV000436713] |
Chr2:148490552 [GRCh38]
Chr2:149248121 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.274G>A (p.Ala92Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002314057]|Intellectual disability, autosomal dominant 1 [RCV000645258] |
Chr2:148463796 [GRCh38]
Chr2:149221365 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1793A>G (p.Asn598Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001504344] |
Chr2:148469736 [GRCh38]
Chr2:149227305 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2277G>A (p.Val759=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001467307]|not provided [RCV001753793] |
Chr2:148470220 [GRCh38]
Chr2:149227789 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1327G>A (p.Val443Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000229510]|not provided [RCV001575932] |
Chr2:148469270 [GRCh38]
Chr2:149226839 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4737T>C (p.Asn1579=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317841]|Intellectual disability, autosomal dominant 1 [RCV000861874]|not specified [RCV000615634] |
Chr2:148490369 [GRCh38]
Chr2:149247938 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.3677A>C (p.Gln1226Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002317771]|Intellectual disability, autosomal dominant 1 [RCV000226063]|MBD5-related disorder [RCV003955364]|not provided [RCV001705282] |
Chr2:148485874 [GRCh38]
Chr2:149243443 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1653A>G (p.Val551=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002120962] |
Chr2:148469596 [GRCh38]
Chr2:149227165 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.932A>C (p.Lys311Thr) |
single nucleotide variant |
Intellectual Disability, Dominant [RCV000307619]|Intellectual disability, autosomal dominant 1 [RCV001344089] |
Chr2:148468875 [GRCh38]
Chr2:149226444 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.113+4A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001397015]|not specified [RCV000599874] |
Chr2:148458875 [GRCh38]
Chr2:149216444 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1304C>T (p.Ser435Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002384171]|Intellectual disability [RCV002225657]|Intellectual disability, autosomal dominant 1 [RCV000526194] |
Chr2:148469247 [GRCh38]
Chr2:149226816 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance|not provided |
| NM_001378120.1(MBD5):c.2371G>A (p.Gly791Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004984828]|Intellectual disability, autosomal dominant 1 [RCV001216107] |
Chr2:148470314 [GRCh38]
Chr2:149227883 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.3726C>T (p.Pro1242=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000525372]|not provided [RCV001637075] |
Chr2:148485923 [GRCh38]
Chr2:149243492 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004021058]|Intellectual Disability, Dominant [RCV000354473]|Intellectual disability, autosomal dominant 1 [RCV000471099]|not provided [RCV000281915] |
Chr2:148489584 [GRCh38]
Chr2:149247153 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_018328.4(MBD5):c.*299T>C |
single nucleotide variant |
Intellectual Disability, Dominant [RCV000282601] |
Chr2:148513240 [GRCh38]
Chr2:149270809 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3766G>A (p.Glu1256Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000550572] |
Chr2:148489398 [GRCh38]
Chr2:149246967 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148777298-148779627)x3 |
copy number gain |
See cases [RCV000240199] |
Chr2:148777298..148779627 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.675G>A (p.Ala225=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317787]|Intellectual disability, autosomal dominant 1 [RCV000461136]|not specified [RCV000251666] |
Chr2:148468618 [GRCh38]
Chr2:149226187 [GRCh37]
Chr2:2q23.1 |
likely benign |
| GRCh37/hg19 2q23.1(chr2:148778595-148799306)x1 |
copy number loss |
See cases [RCV000240324] |
Chr2:148778595..148799306 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| GRCh37/hg19 2q23.1(chr2:148717346-148799306)x1 |
copy number loss |
See cases [RCV000240539] |
Chr2:148717346..148799306 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:148957572-149027461)x1 |
copy number loss |
See cases [RCV000240456] |
Chr2:148957572..149027461 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.718A>G (p.Arg240Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002377110]|Intellectual disability, autosomal dominant 1 [RCV000552348] |
Chr2:148468661 [GRCh38]
Chr2:149226230 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_018328.4(MBD5):c.-457T>C |
single nucleotide variant |
Intellectual Disability, Dominant [RCV000398448] |
Chr2:148458302 [GRCh38]
Chr2:149215871 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_018328.4(MBD5):c.*405C>T |
single nucleotide variant |
Intellectual Disability, Dominant [RCV000337647] |
Chr2:148513346 [GRCh38]
Chr2:149270915 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.*200A>G |
single nucleotide variant |
not provided [RCV001641023] |
Chr2:148513141 [GRCh38]
Chr2:149270710 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.-663C>T |
single nucleotide variant |
not specified [RCV000605292] |
Chr2:148342230 [GRCh38]
Chr2:149099799 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.-829A>G |
single nucleotide variant |
not provided [RCV001678092] |
Chr2:148233246 [GRCh38]
Chr2:148990815 [GRCh37]
Chr2:2q23.1 |
benign|uncertain significance |
| NM_018328.4(MBD5):c.*283A>G |
single nucleotide variant |
Intellectual Disability, Dominant [RCV000350324] |
Chr2:148513224 [GRCh38]
Chr2:149270793 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_018328.4(MBD5):c.-296G>A |
single nucleotide variant |
Intellectual Disability, Dominant [RCV000281441] |
Chr2:148458463 [GRCh38]
Chr2:149216032 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1341G>A (p.Gly447=) |
single nucleotide variant |
not provided [RCV000375567] |
Chr2:148469284 [GRCh38]
Chr2:149226853 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4051C>T (p.Pro1351Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002014987] |
Chr2:148489683 [GRCh38]
Chr2:149247252 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.258C>T (p.Thr86=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002521891]|not provided [RCV000308822] |
Chr2:148463780 [GRCh38]
Chr2:149221349 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.5131G>A (p.Gly1711Ser) |
single nucleotide variant |
Intellectual Disability, Dominant [RCV000271278] |
Chr2:148512888 [GRCh38]
Chr2:149270457 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2010C>G (p.Leu670=) |
single nucleotide variant |
Inborn genetic diseases [RCV002418123]|Intellectual disability, autosomal dominant 1 [RCV001089283]|not provided [RCV000313564] |
Chr2:148469953 [GRCh38]
Chr2:149227522 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.4258T>G (p.Ser1420Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001315963]|not provided [RCV000405803] |
Chr2:148489890 [GRCh38]
Chr2:149247459 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.3603G>T (p.Ser1201=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001412559]|not provided [RCV000268791] |
Chr2:148485800 [GRCh38]
Chr2:149243369 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.4975A>T (p.Lys1659Ter) |
single nucleotide variant |
not provided [RCV000585186] |
Chr2:148502448 [GRCh38]
Chr2:149260017 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NC_000002.12:g.148082082_148203828del |
deletion |
See cases [RCV001568389] |
Chr2:148082082..148203828 [GRCh38]
Chr2:2q23.1 |
not provided |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001378120.1(MBD5):c.1558G>T (p.Asp520Tyr) |
single nucleotide variant |
not provided [RCV003315051] |
Chr2:148469501 [GRCh38]
Chr2:149227070 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.688C>T (p.Gln230Ter) |
single nucleotide variant |
not provided [RCV000490051] |
Chr2:148468631 [GRCh38]
Chr2:149226200 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_018328.4(MBD5):c.-63C>G |
single nucleotide variant |
Intellectual Disability, Dominant [RCV000399166] |
Chr2:148458696 [GRCh38]
Chr2:149216265 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1227G>C (p.Leu409Phe) |
single nucleotide variant |
not provided [RCV003314253] |
Chr2:148469170 [GRCh38]
Chr2:149226739 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2301C>T (p.Asn767=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005126461] |
Chr2:148470244 [GRCh38]
Chr2:149227813 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_018328.4(MBD5):c.*526A>T |
single nucleotide variant |
Intellectual Disability, Dominant [RCV000401218] |
Chr2:148513467 [GRCh38]
Chr2:149271036 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_018328.4(MBD5):c.-659T>C |
single nucleotide variant |
Intellectual Disability, Dominant [RCV000283811] |
Chr2:148342234 [GRCh38]
Chr2:149099803 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2140C>G (p.His714Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002521298]|not provided [RCV001091559] |
Chr2:148470083 [GRCh38]
Chr2:149227652 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_018328.4(MBD5):c.*288G>A |
single nucleotide variant |
Intellectual Disability, Dominant [RCV000386289] |
Chr2:148513229 [GRCh38]
Chr2:149270798 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_018328.4(MBD5):c.*229G>A |
single nucleotide variant |
Intellectual Disability, Dominant [RCV000295422] |
Chr2:148513170 [GRCh38]
Chr2:149270739 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_018328.4(MBD5):c.2825T>C (p.Leu942Pro) |
single nucleotide variant |
Intellectual Disability, Dominant [RCV000352287] |
Chr2:148483416 [GRCh38]
Chr2:149240985 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.-591dup |
duplication |
Intellectual Disability, Dominant [RCV000322515] |
Chr2:148342300..148342301 [GRCh38]
Chr2:149099869..149099870 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_018328.4(MBD5):c.-224A>T |
single nucleotide variant |
Intellectual Disability, Dominant [RCV000338715] |
Chr2:148458535 [GRCh38]
Chr2:149216104 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.328G>A (p.Ala110Thr) |
single nucleotide variant |
not provided [RCV000522864] |
Chr2:148463850 [GRCh38]
Chr2:149221419 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.*162dup |
duplication |
Intellectual Disability, Dominant [RCV000326223] |
Chr2:148513096..148513097 [GRCh38]
Chr2:149270665..149270666 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.113+8C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001392143] |
Chr2:148458879 [GRCh38]
Chr2:149216448 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_018328.4(MBD5):c.-573T>A |
single nucleotide variant |
Intellectual Disability, Dominant [RCV000379518] |
Chr2:148342320 [GRCh38]
Chr2:149099889 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4597G>A (p.Gly1533Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495161]|not provided [RCV000591907] |
Chr2:148490229 [GRCh38]
Chr2:149247798 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4800A>G (p.Pro1600=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000531724] |
Chr2:148490432 [GRCh38]
Chr2:149248001 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4398dup (p.Val1467fs) |
duplication |
not provided [RCV000599155] |
Chr2:148490029..148490030 [GRCh38]
Chr2:149247598..149247599 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.361_362del (p.Pro121fs) |
deletion |
not provided [RCV000599208] |
Chr2:148463883..148463884 [GRCh38]
Chr2:149221452..149221453 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.3569C>A (p.Thr1190Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001069107]|not specified [RCV000601106] |
Chr2:148485766 [GRCh38]
Chr2:149243335 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.558G>T (p.Leu186=) |
single nucleotide variant |
not specified [RCV000606597] |
Chr2:148468501 [GRCh38]
Chr2:149226070 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3924C>T (p.Leu1308=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002062974]|not specified [RCV000603382] |
Chr2:148489556 [GRCh38]
Chr2:149247125 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1589G>A (p.Ser530Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002404486]|Intellectual disability, autosomal dominant 1 [RCV000552695]|MBD5-related disorder [RCV003979995]|not provided [RCV001591245] |
Chr2:148469532 [GRCh38]
Chr2:149227101 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002314908]|Intellectual disability, autosomal dominant 1 [RCV001089226]|not provided [RCV000522311] |
Chr2:148468365 [GRCh38]
Chr2:149225934 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.4963-10C>A |
single nucleotide variant |
not provided [RCV000731060] |
Chr2:148502426 [GRCh38]
Chr2:149259995 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002521484]|not provided [RCV000416184] |
Chr2:148490137 [GRCh38]
Chr2:149247706 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.3882G>A (p.Pro1294=) |
single nucleotide variant |
Inborn genetic diseases [RCV002323996]|Intellectual disability, autosomal dominant 1 [RCV000539308] |
Chr2:148489514 [GRCh38]
Chr2:149247083 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.156A>G (p.Thr52=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001518887]|MBD5-related disorder [RCV003979994]|not specified [RCV003323606] |
Chr2:148462624 [GRCh38]
Chr2:149220193 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1920T>C (p.Gly640=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000541421] |
Chr2:148469863 [GRCh38]
Chr2:149227432 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4601T>C (p.Phe1534Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000555521] |
Chr2:148490233 [GRCh38]
Chr2:149247802 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1811del (p.Asn604fs) |
deletion |
not provided [RCV000413134] |
Chr2:148469753 [GRCh38]
Chr2:149227322 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| GRCh37/hg19 2q23.1(chr2:148814430-148861205)x1 |
copy number loss |
not provided [RCV000753160] |
Chr2:148814430..148861205 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000817602]|not specified [RCV000412834] |
Chr2:148458777 [GRCh38]
Chr2:149216346 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.4556G>A (p.Arg1519Lys) |
single nucleotide variant |
not specified [RCV000412849] |
Chr2:148490188 [GRCh38]
Chr2:149247757 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148860592-148974600)x3 |
copy number gain |
not provided [RCV000753161] |
Chr2:148860592..148974600 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:149109237-149178974)x1 |
copy number loss |
not provided [RCV000753164] |
Chr2:149109237..149178974 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.2689G>A (p.Ala897Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003258866]|Intellectual disability, autosomal dominant 1 [RCV000536475] |
Chr2:148483280 [GRCh38]
Chr2:149240849 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4066A>G (p.Met1356Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002523952]|MBD5 associated neurodevelopmental disorder [RCV001824757]|not specified [RCV000413545] |
Chr2:148489698 [GRCh38]
Chr2:149247267 [GRCh37]
Chr2:2q23.1 |
uncertain significance|not provided |
| GRCh37/hg19 2q23.1(chr2:148893782-149041073)x1 |
copy number loss |
See cases [RCV000446492] |
Chr2:148893782..149041073 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:148957572-149100105)x1 |
copy number loss |
See cases [RCV000446610] |
Chr2:148957572..149100105 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:149201266-149239392)x3 |
copy number gain |
See cases [RCV000446243] |
Chr2:149201266..149239392 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:148894900-148979973)x1 |
copy number loss |
See cases [RCV000446422] |
Chr2:148894900..148979973 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.939A>G (p.Pro313=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001460423]|not specified [RCV000427163] |
Chr2:148468882 [GRCh38]
Chr2:149226451 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.471A>G (p.Thr157=) |
single nucleotide variant |
Inborn genetic diseases [RCV002338988]|Intellectual disability, autosomal dominant 1 [RCV000861271]|not provided [RCV003437163]|not specified [RCV000427313] |
Chr2:148468414 [GRCh38]
Chr2:149225983 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001378120.1(MBD5):c.3603G>A (p.Ser1201=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001489470]|not provided [RCV001703521] |
Chr2:148485800 [GRCh38]
Chr2:149243369 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.102G>T (p.Val34=) |
single nucleotide variant |
not specified [RCV000437700] |
Chr2:148458860 [GRCh38]
Chr2:149216429 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001501770]|MBD5-related disorder [RCV003912622]|not provided [RCV000735100]|not specified [RCV000417551] |
Chr2:148490519 [GRCh38]
Chr2:149248088 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.1803C>T (p.Ser601=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002063397]|not specified [RCV000420904] |
Chr2:148469746 [GRCh38]
Chr2:149227315 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1536C>T (p.Ser512=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001497460]|not specified [RCV000420929] |
Chr2:148469479 [GRCh38]
Chr2:149227048 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5010C>T (p.Tyr1670=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001437961]|not specified [RCV000427445] |
Chr2:148502483 [GRCh38]
Chr2:149260052 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3669G>A (p.Gln1223=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001851033]|not provided [RCV000860912] |
Chr2:148485866 [GRCh38]
Chr2:149243435 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.-925+18G>A |
single nucleotide variant |
not specified [RCV000434368] |
Chr2:148021702 [GRCh38]
Chr2:148779271 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.216+15A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600378]|not specified [RCV000445183] |
Chr2:148462699 [GRCh38]
Chr2:149220268 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4590G>A (p.Gln1530=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002525347]|not specified [RCV000441774] |
Chr2:148490222 [GRCh38]
Chr2:149247791 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2254A>G (p.Ile752Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002311448]|Intellectual disability, autosomal dominant 1 [RCV001087105]|MBD5-related disorder [RCV003957910]|not provided [RCV000513420] |
Chr2:148470197 [GRCh38]
Chr2:149227766 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.4182A>G (p.Ser1394=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000877883]|not provided [RCV001720075] |
Chr2:148489814 [GRCh38]
Chr2:149247383 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3837C>T (p.Asn1279=) |
single nucleotide variant |
Inborn genetic diseases [RCV002311494]|Intellectual disability, autosomal dominant 1 [RCV002062697]|not specified [RCV000427876] |
Chr2:148489469 [GRCh38]
Chr2:149247038 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4749T>C (p.Pro1583=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002526345]|not specified [RCV000427877] |
Chr2:148490381 [GRCh38]
Chr2:149247950 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001081819]|not provided [RCV000727439] |
Chr2:148490261 [GRCh38]
Chr2:149247830 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.5163G>A (p.Lys1721=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000939671]|not provided [RCV001703871] |
Chr2:148512920 [GRCh38]
Chr2:149270489 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_018328.5(MBD5):c.-974A>G |
single nucleotide variant |
not specified [RCV000418251] |
Chr2:148021034 [GRCh38]
Chr2:148778603 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4401C>G (p.Val1467=) |
single nucleotide variant |
not specified [RCV000428233] |
Chr2:148490033 [GRCh38]
Chr2:149247602 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1635T>A (p.Ser545=) |
single nucleotide variant |
not specified [RCV000428260] |
Chr2:148469578 [GRCh38]
Chr2:149227147 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.60A>G (p.Gln20=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313100]|Intellectual disability, autosomal dominant 1 [RCV002521798]|not specified [RCV000435201] |
Chr2:148458818 [GRCh38]
Chr2:149216387 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.3690A>G (p.Gly1230=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001403627]|not provided [RCV001718844] |
Chr2:148485887 [GRCh38]
Chr2:149243456 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=) |
single nucleotide variant |
Inborn genetic diseases [RCV002356613]|Intellectual disability, autosomal dominant 1 [RCV001507155]|not provided [RCV000727478] |
Chr2:148490363 [GRCh38]
Chr2:149247932 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_018328.5(MBD5):c.-962+16C>T |
single nucleotide variant |
not specified [RCV000442265] |
Chr2:148021062 [GRCh38]
Chr2:148778631 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4995A>G (p.Glu1665=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600377]|not provided [RCV001712237] |
Chr2:148502468 [GRCh38]
Chr2:149260037 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2502A>C (p.Gln834His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645260]|MBD5-related disorder [RCV003959979]|not provided [RCV001698286] |
Chr2:148470445 [GRCh38]
Chr2:149228014 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4199C>T (p.Pro1400Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000525782]|not provided [RCV001704273] |
Chr2:148489831 [GRCh38]
Chr2:149247400 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.3753+15T>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600380]|not specified [RCV000421628] |
Chr2:148485965 [GRCh38]
Chr2:149243534 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.-693A>G |
single nucleotide variant |
not specified [RCV000425116] |
Chr2:148233382 [GRCh38]
Chr2:148990951 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.588T>C (p.Pro196=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000863296]|not provided [RCV001720254] |
Chr2:148468531 [GRCh38]
Chr2:149226100 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5097C>T (p.Asp1699=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000871058]|not provided [RCV000428685] |
Chr2:148510120 [GRCh38]
Chr2:149267689 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1999T>C (p.Leu667=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001394843]|not provided [RCV000468652] |
Chr2:148469942 [GRCh38]
Chr2:149227511 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.-933G>A |
single nucleotide variant |
not provided [RCV001718843] |
Chr2:148021676 [GRCh38]
Chr2:148779245 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5107G>A (p.Gly1703Arg) |
single nucleotide variant |
not specified [RCV000435712] |
Chr2:148510130 [GRCh38]
Chr2:149267699 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.*12C>A |
single nucleotide variant |
not specified [RCV000435730] |
Chr2:148512953 [GRCh38]
Chr2:149270522 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1987C>T (p.Pro663Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000691781]|not specified [RCV000439259] |
Chr2:148469930 [GRCh38]
Chr2:149227499 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1911G>T (p.Gly637=) |
single nucleotide variant |
Inborn genetic diseases [RCV002411342]|Intellectual disability, autosomal dominant 1 [RCV001344040]|not specified [RCV000432385] |
Chr2:148469854 [GRCh38]
Chr2:149227423 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.943T>G (p.Cys315Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001314127]|not specified [RCV000443140] |
Chr2:148468886 [GRCh38]
Chr2:149226455 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.397+20G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002058963]|not specified [RCV000443234] |
Chr2:148463939 [GRCh38]
Chr2:149221508 [GRCh37]
Chr2:2q23.1 |
likely benign |
| GRCh37/hg19 2q23.1(chr2:148728326-148851964)x1 |
copy number loss |
See cases [RCV000445778] |
Chr2:148728326..148851964 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1762C>T (p.Leu588=) |
single nucleotide variant |
not specified [RCV000433136] |
Chr2:148469705 [GRCh38]
Chr2:149227274 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.327G>A (p.Val109=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001398986]|not specified [RCV000433161] |
Chr2:148463849 [GRCh38]
Chr2:149221418 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.913A>G (p.Thr305Ala) |
single nucleotide variant |
not specified [RCV000436551] |
Chr2:148468856 [GRCh38]
Chr2:149226425 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1449T>C (p.Ser483=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001462971]|not specified [RCV000436709] |
Chr2:148469392 [GRCh38]
Chr2:149226961 [GRCh37]
Chr2:2q23.1 |
likely benign |
| GRCh37/hg19 2q23.1-23.2(chr2:149218583-149933863)x3 |
copy number gain |
See cases [RCV000445916] |
Chr2:149218583..149933863 [GRCh37]
Chr2:2q23.1-23.2 |
uncertain significance |
| NM_001378120.1(MBD5):c.4591A>C (p.Ser1531Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005090835]|See cases [RCV002252126]|not provided [RCV001698339] |
Chr2:148490223 [GRCh38]
Chr2:149247792 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4218G>A (p.Gly1406=) |
single nucleotide variant |
Inborn genetic diseases [RCV002450980]|Intellectual disability, autosomal dominant 1 [RCV000860870]|not specified [RCV000423134] |
Chr2:148489850 [GRCh38]
Chr2:149247419 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.678A>T (p.Ser226=) |
single nucleotide variant |
not specified [RCV000440698] |
Chr2:148468621 [GRCh38]
Chr2:149226190 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1419G>A (p.Met473Ile) |
single nucleotide variant |
not provided [RCV000444256] |
Chr2:148469362 [GRCh38]
Chr2:149226931 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4929C>T (p.His1643=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002063566]|not specified [RCV000420194] |
Chr2:148490561 [GRCh38]
Chr2:149248130 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3731C>A (p.Ala1244Asp) |
single nucleotide variant |
not provided [RCV000423320] |
Chr2:148485928 [GRCh38]
Chr2:149243497 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2437C>T (p.Gln813Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001390694]|not provided [RCV000440721] |
Chr2:148470380 [GRCh38]
Chr2:149227949 [GRCh37]
Chr2:2q23.1 |
pathogenic|likely pathogenic |
| GRCh37/hg19 2q23.1(chr2:148728409-149130479)x1 |
copy number loss |
See cases [RCV000448802] |
Chr2:148728409..149130479 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:148897424-148979973)x1 |
copy number loss |
See cases [RCV000448950] |
Chr2:148897424..148979973 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:149089645-149192958) |
copy number loss |
Abnormal esophagus morphology [RCV000416857] |
Chr2:149089645..149192958 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NC_000002.12:g.(?_147994620)_(148348158_?)del |
deletion |
Schizophrenia [RCV000416628] |
Chr2:147994620..148348158 [GRCh38]
Chr2:148752189..149105727 [GRCh37]
Chr2:148468659..148822197 [NCBI36]
Chr2:2q23.1 |
likely pathogenic |
| NC_000002.12:g.(?_148216217)_(148405416_?)del |
deletion |
Schizophrenia [RCV000416643] |
Chr2:148216217..148405416 [GRCh38]
Chr2:148973786..149162985 [GRCh37]
Chr2:148690256..148879455 [NCBI36]
Chr2:2q23.1 |
likely pathogenic |
| GRCh37/hg19 2q22.3-23.1(chr2:146803587-149568729)x1 |
copy number loss |
See cases [RCV000448197] |
Chr2:146803587..149568729 [GRCh37]
Chr2:2q22.3-23.1 |
pathogenic |
| NC_000002.12:g.(?_148142676)_(148241722_?)del |
deletion |
Schizophrenia [RCV000416768] |
Chr2:148142676..148241722 [GRCh38]
Chr2:148900245..148999291 [GRCh37]
Chr2:148616715..148715761 [NCBI36]
Chr2:2q23.1 |
likely pathogenic |
| NC_000002.12:g.(?_148159194)_(148220059_?)del |
deletion |
Schizophrenia [RCV000416833] |
Chr2:148159194..148220059 [GRCh38]
Chr2:148916763..148977628 [GRCh37]
Chr2:148633233..148694098 [NCBI36]
Chr2:2q23.1 |
likely pathogenic |
| GRCh37/hg19 2q22.3-23.3(chr2:147063452-154796058)x1 |
copy number loss |
See cases [RCV000448667] |
Chr2:147063452..154796058 [GRCh37]
Chr2:2q22.3-23.3 |
pathogenic |
| GRCh37/hg19 2q23.1-23.3(chr2:148842506-152370040)x1 |
copy number loss |
See cases [RCV000448089] |
Chr2:148842506..152370040 [GRCh37]
Chr2:2q23.1-23.3 |
pathogenic |
| NM_001378120.1(MBD5):c.5154del (p.Lys1719fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV000470180] |
Chr2:148512906 [GRCh38]
Chr2:149270475 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| Single allele |
duplication |
MBD5 associated neurodevelopmental disorder [RCV000454618] |
Chr2:140621941..149324662 [GRCh37]
Chr2:2q22.1-23.1 |
pathogenic |
| Single allele |
duplication |
MBD5 associated neurodevelopmental disorder [RCV000455254] |
Chr2:148400000..149600000 [GRCh37]
Chr2:2q22.3-23.1 |
pathogenic |
| Single allele |
deletion |
MBD5 associated neurodevelopmental disorder [RCV000455812] |
Chr2:148596092..148979574 [GRCh37]
Chr2:2q22.3-23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1962C>T (p.Asp654=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000474404]|not specified [RCV000612393] |
Chr2:148469905 [GRCh38]
Chr2:149227474 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2299_2302del (p.Asn767fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV000459819] |
Chr2:148470239..148470242 [GRCh38]
Chr2:149227808..149227811 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2278C>T (p.His760Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000456581] |
Chr2:148470221 [GRCh38]
Chr2:149227790 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| Single allele |
duplication |
MBD5 associated neurodevelopmental disorder [RCV000477751] |
Chr2:148099735..149441341 [GRCh37]
Chr2:2q22.3-23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1234G>A (p.Val412Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002367633]|Intellectual disability, autosomal dominant 1 [RCV000549902]|not provided [RCV001704616] |
Chr2:148469177 [GRCh38]
Chr2:149226746 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.114-16dup |
duplication |
not specified [RCV000485329] |
Chr2:148462559..148462560 [GRCh38]
Chr2:149220128..149220129 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1327G>T (p.Val443Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000538625]|not provided [RCV000485500] |
Chr2:148469270 [GRCh38]
Chr2:149226839 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4935A>C (p.Ser1645=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000457385]|not specified [RCV000613507] |
Chr2:148490567 [GRCh38]
Chr2:149248136 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2275G>A (p.Val759Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000461219]|not provided [RCV001551861] |
Chr2:148470218 [GRCh38]
Chr2:149227787 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001378120.1(MBD5):c.3881C>T (p.Pro1294Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002323696]|Intellectual disability, autosomal dominant 1 [RCV000465032]|not provided [RCV004711111] |
Chr2:148489513 [GRCh38]
Chr2:149247082 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.3851C>T (p.Pro1284Leu) |
single nucleotide variant |
not provided [RCV000486479] |
Chr2:148489483 [GRCh38]
Chr2:149247052 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1417A>G (p.Met473Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001851274]|not provided [RCV000482287] |
Chr2:148469360 [GRCh38]
Chr2:149226929 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2426C>G (p.Pro809Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000458032]|not provided [RCV001576557] |
Chr2:148470369 [GRCh38]
Chr2:149227938 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.3766G>T (p.Glu1256Ter) |
single nucleotide variant |
not provided [RCV000479291] |
Chr2:148489398 [GRCh38]
Chr2:149246967 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.924A>C (p.Pro308=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000466375] |
Chr2:148468867 [GRCh38]
Chr2:149226436 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.409G>A (p.Val137Ile) |
single nucleotide variant |
not provided [RCV000498683] |
Chr2:148468352 [GRCh38]
Chr2:149225921 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3791G>T (p.Arg1264Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001313477]|not specified [RCV000501206] |
Chr2:148489423 [GRCh38]
Chr2:149246992 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3754-6T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001463911]|not specified [RCV000503667] |
Chr2:148489380 [GRCh38]
Chr2:149246949 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2561A>G (p.Asn854Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001857127]|not specified [RCV000503955] |
Chr2:148483152 [GRCh38]
Chr2:149240721 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His) |
single nucleotide variant |
Inborn genetic diseases [RCV002329200]|Intellectual disability, autosomal dominant 1 [RCV001452025]|Seizure [RCV000781978]|not provided [RCV000887625]|not specified [RCV000504040] |
Chr2:148502443 [GRCh38]
Chr2:149260012 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.321T>G (p.Ile107Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000554194] |
Chr2:148463843 [GRCh38]
Chr2:149221412 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2370C>T (p.Ser790=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002056857]|not provided [RCV001575340]|not specified [RCV000501941] |
Chr2:148470313 [GRCh38]
Chr2:149227882 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.709A>G (p.Ile237Val) |
single nucleotide variant |
Chromosome 2q23.1 deletion syndrome [RCV000509498]|Inborn genetic diseases [RCV002524936]|Intellectual disability, autosomal dominant 1 [RCV001037274]|not provided [RCV001560268] |
Chr2:148468652 [GRCh38]
Chr2:149226221 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance|not provided |
| NM_001378120.1(MBD5):c.1633T>C (p.Ser545Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001366422]|not specified [RCV000502153] |
Chr2:148469576 [GRCh38]
Chr2:149227145 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4192C>T (p.Arg1398Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004984918]|not provided [RCV000498017] |
Chr2:148489824 [GRCh38]
Chr2:149247393 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.801C>G (p.His267Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001061510]|not provided [RCV000498279] |
Chr2:148468744 [GRCh38]
Chr2:149226313 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2025_2028del (p.Met675fs) |
deletion |
not provided [RCV000493484] |
Chr2:148469966..148469969 [GRCh38]
Chr2:149227535..149227538 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.5104T>C (p.Ser1702Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001360993]|not provided [RCV000493995] |
Chr2:148510127 [GRCh38]
Chr2:149267696 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2498A>T (p.Asn833Ile) |
single nucleotide variant |
not provided [RCV000494300] |
Chr2:148470441 [GRCh38]
Chr2:149228010 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q22.3-23.3(chr2:146913477-151531586)x1 |
copy number loss |
See cases [RCV000511626] |
Chr2:146913477..151531586 [GRCh37]
Chr2:2q22.3-23.3 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:148746282-148820654)x1 |
copy number loss |
See cases [RCV000511773] |
Chr2:148746282..148820654 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| GRCh37/hg19 2q23.1(chr2:149209178-149434757)x3 |
copy number gain |
See cases [RCV000511827] |
Chr2:149209178..149434757 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148815797-149201267)x3 |
copy number gain |
See cases [RCV000511849] |
Chr2:148815797..149201267 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3803A>C (p.Gln1268Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001495783] |
Chr2:148489435 [GRCh38]
Chr2:149247004 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148859098-148990429)x1 |
copy number loss |
See cases [RCV000511235] |
Chr2:148859098..148990429 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4698C>A (p.Tyr1566Ter) |
single nucleotide variant |
not provided [RCV000579249] |
Chr2:148490330 [GRCh38]
Chr2:149247899 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:148938816-149039696)x1 |
copy number loss |
See cases [RCV000510783] |
Chr2:148938816..149039696 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2122A>T (p.Met708Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600383]|not provided [RCV000519142] |
Chr2:148470065 [GRCh38]
Chr2:149227634 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2518+4T>C |
single nucleotide variant |
not specified [RCV000606876] |
Chr2:148470465 [GRCh38]
Chr2:149228034 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4566C>T (p.His1522=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001413042] |
Chr2:148490198 [GRCh38]
Chr2:149247767 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1564C>T (p.Pro522Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645259] |
Chr2:148469507 [GRCh38]
Chr2:149227076 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1634C>G (p.Ser545Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645271] |
Chr2:148469577 [GRCh38]
Chr2:149227146 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4692A>C (p.Lys1564Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645276] |
Chr2:148490324 [GRCh38]
Chr2:149247893 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.606A>T (p.Arg202Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645281] |
Chr2:148468549 [GRCh38]
Chr2:149226118 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645284] |
Chr2:148469480 [GRCh38]
Chr2:149227049 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001378120.1(MBD5):c.384C>T (p.Pro128=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645288] |
Chr2:148463906 [GRCh38]
Chr2:149221475 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2520C>T (p.Gly840=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002533269] |
Chr2:148483111 [GRCh38]
Chr2:149240680 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4845G>A (p.Thr1615=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645290] |
Chr2:148490477 [GRCh38]
Chr2:149248046 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1842T>C (p.Thr614=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645291] |
Chr2:148469785 [GRCh38]
Chr2:149227354 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter) |
single nucleotide variant |
Autism spectrum disorder [RCV000754667]|Inborn genetic diseases [RCV000622906]|Intellectual disability [RCV001257688]|not provided [RCV001591397] |
Chr2:148468916 [GRCh38]
Chr2:149226485 [GRCh37]
Chr2:2q23.1 |
pathogenic|likely pathogenic |
| Single allele |
deletion |
MBD5 associated neurodevelopmental disorder [RCV000454759] |
Chr2:148447295..148651456 [GRCh37]
Chr2:2q22.3 |
pathogenic |
| GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] |
Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3 |
drug response |
| NM_001378120.1(MBD5):c.1266T>G (p.His422Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003299277] |
Chr2:148469209 [GRCh38]
Chr2:149226778 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4492A>G (p.Arg1498Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV000622314]|Intellectual disability, autosomal dominant 1 [RCV003600390]|not provided [RCV001562883] |
Chr2:148490124 [GRCh38]
Chr2:149247693 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.75G>A (p.Trp25Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000622792] |
Chr2:148458833 [GRCh38]
Chr2:149216402 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1221C>T (p.Leu407=) |
single nucleotide variant |
not provided [RCV003312487] |
Chr2:148469164 [GRCh38]
Chr2:149226733 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1895T>C (p.Leu632Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV000624194] |
Chr2:148469838 [GRCh38]
Chr2:149227407 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004984947]|Intellectual disability, autosomal dominant 1 [RCV000823751]|not provided [RCV001722447] |
Chr2:148489720 [GRCh38]
Chr2:149247289 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.2519-19T>G |
single nucleotide variant |
not specified [RCV000602415] |
Chr2:148483091 [GRCh38]
Chr2:149240660 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_018328.5(MBD5):c.-973G>A |
single nucleotide variant |
not specified [RCV000609418] |
Chr2:148021035 [GRCh38]
Chr2:148778604 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2127T>C (p.Ser709=) |
single nucleotide variant |
not specified [RCV000612169] |
Chr2:148470070 [GRCh38]
Chr2:149227639 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2311A>G (p.Ser771Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001232433]|not provided [RCV001698465] |
Chr2:148470254 [GRCh38]
Chr2:149227823 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.-660A>C |
single nucleotide variant |
not specified [RCV000609752] |
Chr2:148342233 [GRCh38]
Chr2:149099802 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4455A>C (p.Arg1485Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003767641]|not specified [RCV000609866] |
Chr2:148490087 [GRCh38]
Chr2:149247656 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2213A>G (p.His738Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001035650]|not specified [RCV000609869] |
Chr2:148470156 [GRCh38]
Chr2:149227725 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.3681G>A (p.Ala1227=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001494713]|not specified [RCV000612935] |
Chr2:148485878 [GRCh38]
Chr2:149243447 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5109G>T (p.Gly1703=) |
single nucleotide variant |
not provided [RCV001719153] |
Chr2:148510132 [GRCh38]
Chr2:149267701 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4962+16T>G |
single nucleotide variant |
not specified [RCV000607472] |
Chr2:148490610 [GRCh38]
Chr2:149248179 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1269A>T (p.Val423=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002062864]|not provided [RCV001697404] |
Chr2:148469212 [GRCh38]
Chr2:149226781 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3847C>G (p.Pro1283Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001295625]|not specified [RCV000616592] |
Chr2:148489479 [GRCh38]
Chr2:149247048 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.476C>T (p.Ser159Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495160]|not provided [RCV000597694] |
Chr2:148468419 [GRCh38]
Chr2:149225988 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3597A>G (p.Leu1199=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002529508]|not specified [RCV000608119] |
Chr2:148485794 [GRCh38]
Chr2:149243363 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.354C>T (p.Ala118=) |
single nucleotide variant |
not specified [RCV000611082] |
Chr2:148463876 [GRCh38]
Chr2:149221445 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1489A>G (p.Ile497Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003129936]|not specified [RCV000608693] |
Chr2:148469432 [GRCh38]
Chr2:149227001 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.-557+6C>A |
single nucleotide variant |
not specified [RCV000608978] |
Chr2:148342342 [GRCh38]
Chr2:149099911 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5021G>A (p.Arg1674Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001343017]|not provided [RCV001707797] |
Chr2:148502494 [GRCh38]
Chr2:149260063 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.-826A>G |
single nucleotide variant |
not specified [RCV000614452] |
Chr2:148233249 [GRCh38]
Chr2:148990818 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.573A>G (p.Gln191=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002528727]|not provided [RCV001719107] |
Chr2:148468516 [GRCh38]
Chr2:149226085 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2511T>A (p.Ser837=) |
single nucleotide variant |
not specified [RCV000609124] |
Chr2:148470454 [GRCh38]
Chr2:149228023 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.46C>A (p.Leu16Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000822844]|not provided [RCV001712689] |
Chr2:148458804 [GRCh38]
Chr2:149216373 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2519-8C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000558944] |
Chr2:148483102 [GRCh38]
Chr2:149240671 [GRCh37]
Chr2:2q23.1 |
likely benign |
| Single allele |
deletion |
MBD5 associated neurodevelopmental disorder [RCV000454803] |
Chr2:148483962..148694158 [GRCh37]
Chr2:2q22.3 |
pathogenic |
| Single allele |
deletion |
MBD5 associated neurodevelopmental disorder [RCV000455222] |
Chr2:148064362..148777233 [GRCh37]
Chr2:2q22.3-23.1 |
pathogenic |
| Single allele |
deletion |
MBD5 associated neurodevelopmental disorder [RCV000455872] |
Chr2:148384665..148560710 [GRCh37]
Chr2:2q22.3 |
pathogenic|likely pathogenic |
| NM_001378120.1(MBD5):c.4626G>A (p.Lys1542=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001488612]|not specified [RCV000604890] |
Chr2:148490258 [GRCh38]
Chr2:149247827 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4047C>T (p.Pro1349=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001443902]|not provided [RCV000869269] |
Chr2:148489679 [GRCh38]
Chr2:149247248 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4438A>G (p.Ile1480Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645261] |
Chr2:148490070 [GRCh38]
Chr2:149247639 [GRCh37]
Chr2:2q23.1 |
benign|uncertain significance |
| NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645262] |
Chr2:148468769 [GRCh38]
Chr2:149226338 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.4858G>A (p.Asp1620Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645263]|not provided [RCV003437360] |
Chr2:148490490 [GRCh38]
Chr2:149248059 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.268G>A (p.Val90Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645265] |
Chr2:148463790 [GRCh38]
Chr2:149221359 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.397+1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645266]|not provided [RCV001268528] |
Chr2:148463920 [GRCh38]
Chr2:149221489 [GRCh37]
Chr2:2q23.1 |
pathogenic|likely pathogenic |
| NM_001378120.1(MBD5):c.1025dup (p.Ser343fs) |
duplication |
Intellectual disability, autosomal dominant 1 [RCV000645268] |
Chr2:148468966..148468967 [GRCh38]
Chr2:149226535..149226536 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.3772G>T (p.Ala1258Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645269] |
Chr2:148489404 [GRCh38]
Chr2:149246973 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002388100]|Intellectual disability, autosomal dominant 1 [RCV000645270] |
Chr2:148468706 [GRCh38]
Chr2:149226275 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.379del (p.Ser127fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV000645272] |
Chr2:148463901 [GRCh38]
Chr2:149221470 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2321del (p.Pro774fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV000645273] |
Chr2:148470263 [GRCh38]
Chr2:149227832 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003243232]|Intellectual disability, autosomal dominant 1 [RCV000645278]|not provided [RCV000734464] |
Chr2:148469141 [GRCh38]
Chr2:149226710 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.1041G>T (p.Gln347His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645280] |
Chr2:148468984 [GRCh38]
Chr2:149226553 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2108A>G (p.Gln703Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001441742] |
Chr2:148470051 [GRCh38]
Chr2:149227620 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2495A>G (p.Tyr832Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645283] |
Chr2:148470438 [GRCh38]
Chr2:149228007 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.974G>A (p.Arg325Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000645292] |
Chr2:148468917 [GRCh38]
Chr2:149226486 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5157A>T (p.Lys1719Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495168]|not provided [RCV000658396] |
Chr2:148512914 [GRCh38]
Chr2:149270483 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1326dup (p.Val443fs) |
duplication |
not provided [RCV000658877] |
Chr2:148469264..148469265 [GRCh38]
Chr2:149226833..149226834 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.4313G>T (p.Gly1438Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000698554] |
Chr2:148489945 [GRCh38]
Chr2:149247514 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4318C>T (p.Arg1440Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005091889]|not provided [RCV000657783] |
Chr2:148489950 [GRCh38]
Chr2:149247519 [GRCh37]
Chr2:2q23.1 |
pathogenic|likely pathogenic |
| NM_001378120.1(MBD5):c.1470_1478del (p.490PRS[1]) |
deletion |
not provided [RCV000658320] |
Chr2:148469409..148469417 [GRCh38]
Chr2:149226978..149226986 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148942537-149035397)x1 |
copy number loss |
See cases [RCV000663401] |
Chr2:148942537..149035397 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| GRCh37/hg19 2q23.1(chr2:148984799-149022674)x1 |
copy number loss |
not provided [RCV000681968] |
Chr2:148984799..149022674 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:149094014-149166807)x1 |
copy number loss |
not provided [RCV000681988] |
Chr2:149094014..149166807 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:148851963-148929896)x1 |
copy number loss |
not provided [RCV000681990] |
Chr2:148851963..148929896 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148815797-148997388)x3 |
copy number gain |
not provided [RCV000682026] |
Chr2:148815797..148997388 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.4934C>A (p.Ser1645Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000680039] |
Chr2:148490566 [GRCh38]
Chr2:149248135 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:148755020-149050963)x1 |
copy number loss |
not provided [RCV000682053] |
Chr2:148755020..149050963 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:148704099-149545055)x3 |
copy number gain |
not provided [RCV000682104] |
Chr2:148704099..149545055 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.3919G>A (p.Gly1307Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002312467]|Intellectual disability, autosomal dominant 1 [RCV001233823] |
Chr2:148489551 [GRCh38]
Chr2:149247120 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2586_2667del (p.Ser863fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV000698489] |
Chr2:148483177..148483258 [GRCh38]
Chr2:149240746..149240827 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1249_1263del (p.Met417_Ser421del) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV000678973] |
Chr2:148469192..148469206 [GRCh38]
Chr2:149226761..149226775 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3583C>A (p.Gln1195Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000699513]|not provided [RCV001756221] |
Chr2:148485780 [GRCh38]
Chr2:149243349 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.302T>C (p.Ile101Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000686667] |
Chr2:148463824 [GRCh38]
Chr2:149221393 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5138G>A (p.Arg1713Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000707249] |
Chr2:148512895 [GRCh38]
Chr2:149270464 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3965A>G (p.Tyr1322Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000707324] |
Chr2:148489597 [GRCh38]
Chr2:149247166 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2621C>A (p.Ala874Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000705492] |
Chr2:148483212 [GRCh38]
Chr2:149240781 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1842_1865del (p.Glu615_Thr622del) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV000705551] |
Chr2:148469780..148469803 [GRCh38]
Chr2:149227349..149227372 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002422556]|Intellectual disability, autosomal dominant 1 [RCV000699477]|not provided [RCV001585644] |
Chr2:148469954 [GRCh38]
Chr2:149227523 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.247A>G (p.Lys83Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000686018] |
Chr2:148463769 [GRCh38]
Chr2:149221338 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3734G>A (p.Cys1245Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000692511] |
Chr2:148485931 [GRCh38]
Chr2:149243500 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4135G>C (p.Gly1379Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000706554] |
Chr2:148489767 [GRCh38]
Chr2:149247336 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3564C>A (p.Asn1188Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000692566] |
Chr2:148485761 [GRCh38]
Chr2:149243330 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2402T>C (p.Met801Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000697524] |
Chr2:148470345 [GRCh38]
Chr2:149227914 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4741T>C (p.Cys1581Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000690000] |
Chr2:148490373 [GRCh38]
Chr2:149247942 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.415C>T (p.Pro139Ser) |
single nucleotide variant |
not provided [RCV000712262] |
Chr2:148468358 [GRCh38]
Chr2:149225927 [GRCh37]
Chr2:2q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.2384T>A (p.Met795Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000690682] |
Chr2:148470327 [GRCh38]
Chr2:149227896 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.869C>G (p.Ala290Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001451200] |
Chr2:148468812 [GRCh38]
Chr2:149226381 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NC_000002.11:g.(?_149216308)_(149270530_?)dup |
duplication |
Intellectual disability, autosomal dominant 1 [RCV000707874] |
Chr2:148458739..148512961 [GRCh38]
Chr2:149216308..149270530 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2240G>C (p.Ser747Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000696176] |
Chr2:148470183 [GRCh38]
Chr2:149227752 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.25G>C (p.Gly9Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003243268]|Intellectual disability, autosomal dominant 1 [RCV000703293]|not provided [RCV001555334] |
Chr2:148458783 [GRCh38]
Chr2:149216352 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2198C>T (p.Ser733Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000696425]|not provided [RCV003432740] |
Chr2:148470141 [GRCh38]
Chr2:149227710 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.55A>G (p.Ile19Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000691978] |
Chr2:148458813 [GRCh38]
Chr2:149216382 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3762G>A (p.Met1254Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000697225] |
Chr2:148489394 [GRCh38]
Chr2:149246963 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148808568-148812188)x1 |
copy number loss |
not provided [RCV000753158] |
Chr2:148808568..148812188 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:148808568-148814430)x1 |
copy number loss |
not provided [RCV000753159] |
Chr2:148808568..148814430 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:148724265-148861205)x1 |
copy number loss |
not provided [RCV000753157] |
Chr2:148724265..148861205 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:149201266-149202550)x0 |
copy number loss |
not provided [RCV000753169] |
Chr2:149201266..149202550 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:149204841-149244732)x3 |
copy number gain |
not provided [RCV000753170] |
Chr2:149204841..149244732 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.5020C>T (p.Arg1674Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002315390]|Intellectual disability, autosomal dominant 1 [RCV001348536] |
Chr2:148502493 [GRCh38]
Chr2:149260062 [GRCh37]
Chr2:2q23.1 |
likely pathogenic|uncertain significance |
| NM_001378120.1(MBD5):c.1971G>A (p.Arg657=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314576] |
Chr2:148469914 [GRCh38]
Chr2:149227483 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.557T>C (p.Leu186Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002318673] |
Chr2:148468500 [GRCh38]
Chr2:149226069 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4474A>C (p.Ile1492Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002318771]|Intellectual disability, autosomal dominant 1 [RCV001305182] |
Chr2:148490106 [GRCh38]
Chr2:149247675 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5135A>G (p.Asp1712Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002318707] |
Chr2:148512892 [GRCh38]
Chr2:149270461 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2399G>C (p.Gly800Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002316868] |
Chr2:148470342 [GRCh38]
Chr2:149227911 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q22.3-23.1(chr2:148651458-148977321)x3 |
copy number gain |
not provided [RCV000753156] |
Chr2:148651458..148977321 [GRCh37]
Chr2:2q22.3-23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:149170115-149202550)x1 |
copy number loss |
not provided [RCV000753166] |
Chr2:149170115..149202550 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:149204841-149266085)x3 |
copy number gain |
not provided [RCV000753171] |
Chr2:149204841..149266085 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:149065242-149069742)x1 |
copy number loss |
not provided [RCV000753162] |
Chr2:149065242..149069742 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:149065395-149069742)x1 |
copy number loss |
not provided [RCV000753163] |
Chr2:149065395..149069742 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:149131384-149162368)x1 |
copy number loss |
not provided [RCV000753165] |
Chr2:149131384..149162368 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:149198831-149204775)x1 |
copy number loss |
not provided [RCV000753167] |
Chr2:149198831..149204775 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:149199613-149202176)x1 |
copy number loss |
not provided [RCV000753168] |
Chr2:149199613..149202176 [GRCh37]
Chr2:2q23.1 |
benign |
| NC_000002.12:g.(?_147990605)_(148350066_?)del |
deletion |
Schizophrenia [RCV000754230] |
Chr2:147990605..148350066 [GRCh38]
Chr2:2q23.1 |
pathogenic |
| NC_000002.12:g.(?_148139385)_(148242336_?)del |
deletion |
Schizophrenia [RCV000754231] |
Chr2:148139385..148242336 [GRCh38]
Chr2:2q23.1 |
pathogenic |
| NC_000002.12:g.(?_148158424)_(148226279_?)del |
deletion |
Schizophrenia [RCV000754233] |
Chr2:148158424..148226279 [GRCh38]
Chr2:2q23.1 |
pathogenic |
| NC_000002.12:g.(?_148211972)_(148423169_?)del |
deletion |
Schizophrenia [RCV000754234] |
Chr2:148211972..148423169 [GRCh38]
Chr2:2q23.1 |
pathogenic |
| NC_000002.12:g.(?_148157591)_(148226058_?)del |
deletion |
Autism [RCV000754232] |
Chr2:148157591..148226058 [GRCh38]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q22.3-23.1(chr2:148588526-148832035)x3 |
copy number gain |
not provided [RCV000740636] |
Chr2:148588526..148832035 [GRCh37]
Chr2:2q22.3-23.1 |
benign |
| GRCh37/hg19 2q22.3-23.1(chr2:148649175-148830513)x3 |
copy number gain |
not provided [RCV000740637] |
Chr2:148649175..148830513 [GRCh37]
Chr2:2q22.3-23.1 |
benign |
| GRCh37/hg19 2q22.3-23.1(chr2:148649175-148897868)x3 |
copy number gain |
not provided [RCV000740638] |
Chr2:148649175..148897868 [GRCh37]
Chr2:2q22.3-23.1 |
benign |
| GRCh37/hg19 2q22.3-23.1(chr2:148649175-148977321)x3 |
copy number gain |
not provided [RCV000740639] |
Chr2:148649175..148977321 [GRCh37]
Chr2:2q22.3-23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:149206411-149239689)x3 |
copy number gain |
not provided [RCV000740640] |
Chr2:149206411..149239689 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:149206411-149242773)x3 |
copy number gain |
not provided [RCV000740641] |
Chr2:149206411..149242773 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:149206411-149244732)x3 |
copy number gain |
not provided [RCV000740642] |
Chr2:149206411..149244732 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:149206821-149266085)x3 |
copy number gain |
not provided [RCV000740643] |
Chr2:149206821..149266085 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:149248413-149250399)x1 |
copy number loss |
not provided [RCV000740644] |
Chr2:149248413..149250399 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.2604C>T (p.Gly868=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001397917]|not specified [RCV004702493] |
Chr2:148483195 [GRCh38]
Chr2:149240764 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4935A>G (p.Ser1645=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000862629]|not provided [RCV001558210] |
Chr2:148490567 [GRCh38]
Chr2:149248136 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1524T>A (p.Pro508=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000873130] |
Chr2:148469467 [GRCh38]
Chr2:149227036 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.216+48T>A |
single nucleotide variant |
not provided [RCV001667829] |
Chr2:148462732 [GRCh38]
Chr2:149220301 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.2095A>C (p.Ser699Arg) |
single nucleotide variant |
not provided [RCV001548195] |
Chr2:148470038 [GRCh38]
Chr2:149227607 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001378120.1(MBD5):c.3874T>C (p.Leu1292=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001466306] |
Chr2:148489506 [GRCh38]
Chr2:149247075 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1784C>T (p.Ala595Val) |
single nucleotide variant |
MBD5-related disorder [RCV003411703]|not provided [RCV000762283] |
Chr2:148469727 [GRCh38]
Chr2:149227296 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1759C>T (p.Gln587Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495183]|not provided [RCV000760634] |
Chr2:148469702 [GRCh38]
Chr2:149227271 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.546T>G (p.Tyr182Ter) |
single nucleotide variant |
not provided [RCV000760701] |
Chr2:148468489 [GRCh38]
Chr2:149226058 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.601C>T (p.Gln201Ter) |
single nucleotide variant |
not provided [RCV000760716] |
Chr2:148468544 [GRCh38]
Chr2:149226113 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1039C>T (p.Gln347Ter) |
single nucleotide variant |
not provided [RCV000760789] |
Chr2:148468982 [GRCh38]
Chr2:149226551 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2605G>T (p.Val869Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001234149]|not provided [RCV000997214] |
Chr2:148483196 [GRCh38]
Chr2:149240765 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4540G>C (p.Glu1514Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000986828] |
Chr2:148490172 [GRCh38]
Chr2:149247741 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5169G>A (p.Arg1723=) |
single nucleotide variant |
not provided [RCV000922521] |
Chr2:148512926 [GRCh38]
Chr2:149270495 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2418C>T (p.Ser806=) |
single nucleotide variant |
not provided [RCV000922633] |
Chr2:148470361 [GRCh38]
Chr2:149227930 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4055C>T (p.Ala1352Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005092569] |
Chr2:148489687 [GRCh38]
Chr2:149247256 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2097T>C (p.Ser699=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495187] |
Chr2:148470040 [GRCh38]
Chr2:149227609 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1965A>C (p.Ala655=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000868572]|not provided [RCV001547310] |
Chr2:148469908 [GRCh38]
Chr2:149227477 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2295C>T (p.Asn765=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000923435] |
Chr2:148470238 [GRCh38]
Chr2:149227807 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.528T>C (p.Asn176=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001458707] |
Chr2:148468471 [GRCh38]
Chr2:149226040 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1407T>C (p.His469=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002540998]|not provided [RCV004711414] |
Chr2:148469350 [GRCh38]
Chr2:149226919 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4335C>T (p.Tyr1445=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000869051]|not provided [RCV001615066] |
Chr2:148489967 [GRCh38]
Chr2:149247536 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3663G>A (p.Gly1221=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001431942] |
Chr2:148485860 [GRCh38]
Chr2:149243429 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4248A>C (p.Glu1416Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001049252] |
Chr2:148489880 [GRCh38]
Chr2:149247449 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5102T>A (p.Met1701Lys) |
single nucleotide variant |
Autistic behavior [RCV001797852] |
Chr2:148510125 [GRCh38]
Chr2:149267694 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3800C>T (p.Thr1267Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001055983] |
Chr2:148489432 [GRCh38]
Chr2:149247001 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4697A>G (p.Tyr1566Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004031853]|Intellectual disability, autosomal dominant 1 [RCV001058732]|not provided [RCV001585959] |
Chr2:148490329 [GRCh38]
Chr2:149247898 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1135A>G (p.Thr379Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001051561]|not specified [RCV003396669] |
Chr2:148469078 [GRCh38]
Chr2:149226647 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.979A>G (p.Met327Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001046984] |
Chr2:148468922 [GRCh38]
Chr2:149226491 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.539G>A (p.Arg180Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034097] |
Chr2:148468482 [GRCh38]
Chr2:149226051 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4733T>G (p.Val1578Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034132] |
Chr2:148490365 [GRCh38]
Chr2:149247934 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4589A>G (p.Gln1530Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034288] |
Chr2:148490221 [GRCh38]
Chr2:149247790 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.871A>G (p.Met291Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034349] |
Chr2:148468814 [GRCh38]
Chr2:149226383 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.4351C>T (p.His1451Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034394] |
Chr2:148489983 [GRCh38]
Chr2:149247552 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1476_1496del (p.Ser495_Arg501del) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001034397] |
Chr2:148469415..148469435 [GRCh38]
Chr2:149226984..149227004 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1700A>G (p.Asn567Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034427] |
Chr2:148469643 [GRCh38]
Chr2:149227212 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5014C>T (p.Arg1672Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034501] |
Chr2:148502487 [GRCh38]
Chr2:149260056 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4920C>A (p.Asp1640Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000819251] |
Chr2:148490552 [GRCh38]
Chr2:149248121 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2358G>T (p.Gln786His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000793654]|not provided [RCV001772045] |
Chr2:148470301 [GRCh38]
Chr2:149227870 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.887A>G (p.Asn296Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000798449] |
Chr2:148468830 [GRCh38]
Chr2:149226399 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| Single allele |
deletion |
Neurodevelopmental disorder [RCV000787425] |
Chr2:148893848..148944832 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.4519A>G (p.Met1507Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000808990] |
Chr2:148490151 [GRCh38]
Chr2:149247720 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.811A>G (p.Thr271Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000810662] |
Chr2:148468754 [GRCh38]
Chr2:149226323 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2750G>A (p.Ser917Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000810790] |
Chr2:148483341 [GRCh38]
Chr2:149240910 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3979G>A (p.Asp1327Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001427063] |
Chr2:148489611 [GRCh38]
Chr2:149247180 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1119T>C (p.Pro373=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000933054] |
Chr2:148469062 [GRCh38]
Chr2:149226631 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2148T>C (p.Ser716=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002064431]|not provided [RCV000861281] |
Chr2:148470091 [GRCh38]
Chr2:149227660 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3607T>C (p.Leu1203=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000980955] |
Chr2:148485804 [GRCh38]
Chr2:149243373 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4746G>T (p.Val1582=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000918684]|not provided [RCV001544996] |
Chr2:148490378 [GRCh38]
Chr2:149247947 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.987C>T (p.His329=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001426590] |
Chr2:148468930 [GRCh38]
Chr2:149226499 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3786C>T (p.Asn1262=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001480994]|not provided [RCV000940952] |
Chr2:148489418 [GRCh38]
Chr2:149246987 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1311T>A (p.Ser437=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001435840] |
Chr2:148469254 [GRCh38]
Chr2:149226823 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2541C>A (p.Ser847=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001465875] |
Chr2:148483132 [GRCh38]
Chr2:149240701 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.81T>C (p.Arg27=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001394103] |
Chr2:148458839 [GRCh38]
Chr2:149216408 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3651A>G (p.Gln1217=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002539948] |
Chr2:148485848 [GRCh38]
Chr2:149243417 [GRCh37]
Chr2:2q23.1 |
likely benign |
| GRCh37/hg19 2q23.1(chr2:148815797-148859188)x1 |
copy number loss |
not provided [RCV001005331] |
Chr2:148815797..148859188 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1438C>T (p.Gln480Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002280276] |
Chr2:148469381 [GRCh38]
Chr2:149226950 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| GRCh37/hg19 2q23.1(chr2:148826079-148959158)x1 |
copy number loss |
not provided [RCV001005332] |
Chr2:148826079..148959158 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4106T>C (p.Leu1369Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000815053]|not provided [RCV001593009] |
Chr2:148489738 [GRCh38]
Chr2:149247307 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.742G>C (p.Asp248His) |
single nucleotide variant |
Inborn genetic diseases [RCV002538082]|Intellectual disability, autosomal dominant 1 [RCV000810941] |
Chr2:148468685 [GRCh38]
Chr2:149226254 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.264A>G (p.Glu88=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002539969] |
Chr2:148463786 [GRCh38]
Chr2:149221355 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2552C>T (p.Ala851Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000815791]|not provided [RCV001551883] |
Chr2:148483143 [GRCh38]
Chr2:149240712 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.3771T>C (p.Asp1257=) |
single nucleotide variant |
not provided [RCV000831177] |
Chr2:148489403 [GRCh38]
Chr2:149246972 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4467G>T (p.Gly1489=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000819293] |
Chr2:148490099 [GRCh38]
Chr2:149247668 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.19T>C (p.Cys7Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000820058]|not provided [RCV002508266] |
Chr2:148458777 [GRCh38]
Chr2:149216346 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2751C>G (p.Ser917Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000804803]|not provided [RCV000828971] |
Chr2:148483342 [GRCh38]
Chr2:149240911 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2521G>A (p.Gly841Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002534639]|Intellectual disability, autosomal dominant 1 [RCV000800478] |
Chr2:148483112 [GRCh38]
Chr2:149240681 [GRCh37]
Chr2:2q23.1 |
benign|likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.385G>A (p.Gly129Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004027584]|Intellectual disability, autosomal dominant 1 [RCV000797089] |
Chr2:148463907 [GRCh38]
Chr2:149221476 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4963-57C>T |
single nucleotide variant |
not provided [RCV000830022] |
Chr2:148502379 [GRCh38]
Chr2:149259948 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.2903C>A (p.Ala968Asp) |
single nucleotide variant |
not provided [RCV000834989] |
Chr2:148483494 [GRCh38]
Chr2:149241063 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.1249A>G (p.Met417Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003380723]|Intellectual disability, autosomal dominant 1 [RCV000801964]|not provided [RCV004584804] |
Chr2:148469192 [GRCh38]
Chr2:149226761 [GRCh37]
Chr2:2q23.1 |
benign|uncertain significance |
| NM_001378120.1(MBD5):c.4507A>G (p.Lys1503Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000798860] |
Chr2:148490139 [GRCh38]
Chr2:149247708 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2724C>G (p.Asn908Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000799680] |
Chr2:148483315 [GRCh38]
Chr2:149240884 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1372C>A (p.Gln458Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000805062] |
Chr2:148469315 [GRCh38]
Chr2:149226884 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.113+166_113+167insG |
insertion |
not provided [RCV000837238] |
Chr2:148459037..148459038 [GRCh38]
Chr2:149216606..149216607 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.936A>C (p.Lys312Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000809841] |
Chr2:148468879 [GRCh38]
Chr2:149226448 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2543T>G (p.Ile848Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002534876]|Intellectual disability, autosomal dominant 1 [RCV000815700]|not provided [RCV001200138]|not specified [RCV001816895] |
Chr2:148483134 [GRCh38]
Chr2:149240703 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.113+14A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002067468]|not provided [RCV000828013] |
Chr2:148458885 [GRCh38]
Chr2:149216454 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.622C>T (p.His208Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000819306] |
Chr2:148468565 [GRCh38]
Chr2:149226134 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148781910-148929896)x1 |
copy number loss |
not provided [RCV000847083] |
Chr2:148781910..148929896 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.-924-3T>C |
single nucleotide variant |
not provided [RCV000842513] |
Chr2:148178697 [GRCh38]
Chr2:148936266 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1000del (p.Gln334fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV000823426] |
Chr2:148468940 [GRCh38]
Chr2:149226509 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.113+221A>G |
single nucleotide variant |
not provided [RCV000843282] |
Chr2:148459092 [GRCh38]
Chr2:149216661 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.114-2A>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000815739] |
Chr2:148462580 [GRCh38]
Chr2:149220149 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.4963-56G>A |
single nucleotide variant |
not provided [RCV000829928] |
Chr2:148502380 [GRCh38]
Chr2:149259949 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.396A>G (p.Thr132=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001066697] |
Chr2:148463918 [GRCh38]
Chr2:149221487 [GRCh37]
Chr2:2q23.1 |
benign|uncertain significance |
| NM_001378120.1(MBD5):c.2548A>G (p.Ile850Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000986826] |
Chr2:148483139 [GRCh38]
Chr2:149240708 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4322A>G (p.Asn1441Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000794722] |
Chr2:148489954 [GRCh38]
Chr2:149247523 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2530C>T (p.Pro844Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000823914] |
Chr2:148483121 [GRCh38]
Chr2:149240690 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4962+250A>C |
single nucleotide variant |
not provided [RCV000840841] |
Chr2:148490844 [GRCh38]
Chr2:149248413 [GRCh37]
Chr2:2q23.1 |
benign |
| Single allele |
deletion |
Chromosome 2q23.1 deletion syndrome [RCV000844933] |
Chr2:148606681..149086780 [GRCh37]
Chr2:2q22.3-23.1 |
not provided |
| NM_001378120.1(MBD5):c.3793A>G (p.Ile1265Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000806327] |
Chr2:148489425 [GRCh38]
Chr2:149246994 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.5037-198dup |
duplication |
not provided [RCV000838699] |
Chr2:148509855..148509856 [GRCh38]
Chr2:149267424..149267425 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.3590C>T (p.Thr1197Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004028688]|Intellectual disability, autosomal dominant 1 [RCV000810114] |
Chr2:148485787 [GRCh38]
Chr2:149243356 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2519-7A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001505933] |
Chr2:148483103 [GRCh38]
Chr2:149240672 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3545-10C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001324202]|not provided [RCV000839510] |
Chr2:148485732 [GRCh38]
Chr2:149243301 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2794C>T (p.His932Tyr) |
single nucleotide variant |
not provided [RCV000997216] |
Chr2:148483385 [GRCh38]
Chr2:149240954 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4419G>T (p.Leu1473=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002549967]|not provided [RCV000997217] |
Chr2:148490051 [GRCh38]
Chr2:149247620 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4581A>G (p.Arg1527=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002549968]|not provided [RCV000997219] |
Chr2:148490213 [GRCh38]
Chr2:149247782 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1680G>T (p.Met560Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001037167]|not provided [RCV000992291] |
Chr2:148469623 [GRCh38]
Chr2:149227192 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3585A>G (p.Gln1195=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001448799] |
Chr2:148485782 [GRCh38]
Chr2:149243351 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3932G>A (p.Gly1311Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001994127] |
Chr2:148489564 [GRCh38]
Chr2:149247133 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4516A>G (p.Met1506Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002067623]|not provided [RCV000997218] |
Chr2:148490148 [GRCh38]
Chr2:149247717 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148938816-149039696)x1 |
copy number loss |
not provided [RCV001005334] |
Chr2:148938816..149039696 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1058C>G (p.Ser353Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000986825] |
Chr2:148469001 [GRCh38]
Chr2:149226570 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.28G>A (p.Gly10Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001065077] |
Chr2:148458786 [GRCh38]
Chr2:149216355 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.217-1G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001250386] |
Chr2:148463738 [GRCh38]
Chr2:149221307 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1025C>A (p.Pro342His) |
single nucleotide variant |
Inborn genetic diseases [RCV004639518]|Intellectual disability, autosomal dominant 1 [RCV001234422] |
Chr2:148468968 [GRCh38]
Chr2:149226537 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2272G>A (p.Ala758Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001220710] |
Chr2:148470215 [GRCh38]
Chr2:149227784 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4591A>G (p.Ser1531Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001223046] |
Chr2:148490223 [GRCh38]
Chr2:149247792 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.947del (p.Asn316fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001241372] |
Chr2:148468889 [GRCh38]
Chr2:149226458 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1667G>A (p.Gly556Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001240337] |
Chr2:148469610 [GRCh38]
Chr2:149227179 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.755G>A (p.Arg252Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001225455] |
Chr2:148468698 [GRCh38]
Chr2:149226267 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2288A>G (p.Asn763Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002549966]|not provided [RCV000997213] |
Chr2:148470231 [GRCh38]
Chr2:149227800 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4333T>G (p.Tyr1445Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001196326] |
Chr2:148489965 [GRCh38]
Chr2:149247534 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1935A>C (p.Arg645Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001226072] |
Chr2:148469878 [GRCh38]
Chr2:149227447 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1868T>C (p.Met623Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001245680] |
Chr2:148469811 [GRCh38]
Chr2:149227380 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2164G>T (p.Gly722Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001232598] |
Chr2:148470107 [GRCh38]
Chr2:149227676 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2678G>A (p.Gly893Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001201683] |
Chr2:148483269 [GRCh38]
Chr2:149240838 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2331C>A (p.Asn777Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001236320] |
Chr2:148470274 [GRCh38]
Chr2:149227843 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1682C>T (p.Pro561Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001219421] |
Chr2:148469625 [GRCh38]
Chr2:149227194 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.753AAG[1] (p.Arg252del) |
microsatellite |
Intellectual disability, autosomal dominant 1 [RCV005102855]|not provided [RCV003312486] |
Chr2:148468696..148468698 [GRCh38]
Chr2:149226265..149226267 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4170G>T (p.Arg1390Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001211848] |
Chr2:148489802 [GRCh38]
Chr2:149247371 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:149220152-149633312) |
copy number gain |
Intellectual disability, autosomal dominant 1 [RCV003236740] |
Chr2:149220152..149633312 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.4390C>T (p.Pro1464Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600453]|not provided [RCV003236981] |
Chr2:148490022 [GRCh38]
Chr2:149247591 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1172T>G (p.Met391Arg) |
single nucleotide variant |
not provided [RCV003234484] |
Chr2:148469115 [GRCh38]
Chr2:149226684 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.392G>A (p.Gly131Glu) |
single nucleotide variant |
not provided [RCV003127092] |
Chr2:148463914 [GRCh38]
Chr2:149221483 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3545-43G>A |
single nucleotide variant |
not provided [RCV001545439] |
Chr2:148485699 [GRCh38]
Chr2:149243268 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.398-22C>A |
single nucleotide variant |
not provided [RCV001545812] |
Chr2:148468319 [GRCh38]
Chr2:149225888 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3545-51G>A |
single nucleotide variant |
not provided [RCV001638614]|not specified [RCV004598059] |
Chr2:148485691 [GRCh38]
Chr2:149243260 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.4963-136A>G |
single nucleotide variant |
not provided [RCV001721870] |
Chr2:148502300 [GRCh38]
Chr2:149259869 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.4284A>T (p.Lys1428Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600413]|not provided [RCV001584005] |
Chr2:148489916 [GRCh38]
Chr2:149247485 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2518+47A>G |
single nucleotide variant |
not provided [RCV001669398] |
Chr2:148470508 [GRCh38]
Chr2:149228077 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.5112+52G>A |
single nucleotide variant |
not provided [RCV001551270] |
Chr2:148510187 [GRCh38]
Chr2:149267756 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4246G>A (p.Glu1416Lys) |
single nucleotide variant |
not provided [RCV001586892] |
Chr2:148489878 [GRCh38]
Chr2:149247447 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.-924-89A>C |
single nucleotide variant |
not provided [RCV001669971] |
Chr2:148178611 [GRCh38]
Chr2:148936180 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.968T>C (p.Ile323Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005094794]|not provided [RCV001566016] |
Chr2:148468911 [GRCh38]
Chr2:149226480 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.3689G>A (p.Gly1230Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495245]|not provided [RCV001552842] |
Chr2:148485886 [GRCh38]
Chr2:149243455 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4623A>G (p.Ala1541=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001450758] |
Chr2:148490255 [GRCh38]
Chr2:149247824 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1458T>C (p.Ile486=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000862114]|not provided [RCV001655615] |
Chr2:148469401 [GRCh38]
Chr2:149226970 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1074T>C (p.Leu358=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000869995] |
Chr2:148469017 [GRCh38]
Chr2:149226586 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4231G>A (p.Glu1411Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004986712]|Intellectual disability, autosomal dominant 1 [RCV001490504]|not provided [RCV003438619] |
Chr2:148489863 [GRCh38]
Chr2:149247432 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.2550A>G (p.Ile850Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000866530]|not provided [RCV001585821] |
Chr2:148483141 [GRCh38]
Chr2:149240710 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4884A>G (p.Gly1628=) |
single nucleotide variant |
not provided [RCV000869218] |
Chr2:148490516 [GRCh38]
Chr2:149248085 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5113-10T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000936911] |
Chr2:148512860 [GRCh38]
Chr2:149270429 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1827C>T (p.Ala609=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000872804]|not provided [RCV001585838] |
Chr2:148469770 [GRCh38]
Chr2:149227339 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4923C>T (p.Asp1641=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001476021] |
Chr2:148490555 [GRCh38]
Chr2:149248124 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2472A>C (p.Ile824=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV000931516] |
Chr2:148470415 [GRCh38]
Chr2:149227984 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2734C>T (p.His912Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001070783] |
Chr2:148483325 [GRCh38]
Chr2:149240894 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4963G>A (p.Val1655Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001203196] |
Chr2:148502436 [GRCh38]
Chr2:149260005 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4594C>T (p.Arg1532Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002561088]|Intellectual disability, autosomal dominant 1 [RCV001202014] |
Chr2:148490226 [GRCh38]
Chr2:149247795 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.599G>T (p.Arg200Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001214727] |
Chr2:148468542 [GRCh38]
Chr2:149226111 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4429C>T (p.Gln1477Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001223489] |
Chr2:148490061 [GRCh38]
Chr2:149247630 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2727T>A (p.His909Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001223641] |
Chr2:148483318 [GRCh38]
Chr2:149240887 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| GRCh37/hg19 2q23.1(chr2:149093832-149198502)x1 |
copy number loss |
Intellectual disability [RCV001250259] |
Chr2:149093832..149198502 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NC_000002.12:g.(?_148458759)_(148512941_?)del |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001031081] |
Chr2:149216328..149270510 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NC_000002.12:g.(?_148458739)_(148512961_?)del |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001033410] |
Chr2:149216308..149270530 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1484CAA[1] (p.Thr496del) |
microsatellite |
Intellectual disability, autosomal dominant 1 [RCV001033995] |
Chr2:148469427..148469429 [GRCh38]
Chr2:149226996..149226998 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2384T>C (p.Met795Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034104]|MBD5-related disorder [RCV003393790] |
Chr2:148470327 [GRCh38]
Chr2:149227896 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1663C>G (p.Pro555Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034395] |
Chr2:148469606 [GRCh38]
Chr2:149227175 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2109G>C (p.Gln703His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034479] |
Chr2:148470052 [GRCh38]
Chr2:149227621 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001378120.1(MBD5):c.1084G>A (p.Asp362Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001244205] |
Chr2:148469027 [GRCh38]
Chr2:149226596 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.643C>T (p.Arg215Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495221]|not provided [RCV000997212] |
Chr2:148468586 [GRCh38]
Chr2:149226155 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2658G>A (p.Gly886=) |
single nucleotide variant |
not provided [RCV000997215] |
Chr2:148483249 [GRCh38]
Chr2:149240818 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2611G>C (p.Val871Leu) |
single nucleotide variant |
not provided [RCV004814689] |
Chr2:148483202 [GRCh38]
Chr2:149240771 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.278A>G (p.Asp93Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002470562] |
Chr2:148463800 [GRCh38]
Chr2:149221369 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.-557+247T>C |
single nucleotide variant |
not provided [RCV001721871] |
Chr2:148342583 [GRCh38]
Chr2:149100152 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:148995224-149294556)x3 |
copy number gain |
not provided [RCV002472467] |
Chr2:148995224..149294556 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148820550-148914178)x1 |
copy number loss |
not provided [RCV002472904] |
Chr2:148820550..148914178 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2519-9dup |
duplication |
not provided [RCV001719477] |
Chr2:148483088..148483089 [GRCh38]
Chr2:149240657..149240658 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.2518+5G>A |
single nucleotide variant |
not provided [RCV002469495] |
Chr2:148470466 [GRCh38]
Chr2:149228035 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1385C>T (p.Ser462Leu) |
single nucleotide variant |
not provided [RCV002467059] |
Chr2:148469328 [GRCh38]
Chr2:149226897 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2168G>T (p.Cys723Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600439]|not provided [RCV002467303] |
Chr2:148470111 [GRCh38]
Chr2:149227680 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4031C>T (p.Thr1344Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002470314] |
Chr2:148489663 [GRCh38]
Chr2:149247232 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148746282-148802565)x1 |
copy number loss |
not provided [RCV001005328] |
Chr2:148746282..148802565 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.698del (p.Gly233fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001044074] |
Chr2:148468640 [GRCh38]
Chr2:149226209 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1 |
copy number loss |
not provided [RCV001005326] |
Chr2:147173792..158346266 [GRCh37]
Chr2:2q22.3-24.1 |
pathogenic |
| NM_001378120.1(MBD5):c.3828dup (p.Asn1277fs) |
duplication |
Intellectual disability, autosomal dominant 1 [RCV001716993] |
Chr2:148489459..148489460 [GRCh38]
Chr2:149247028..149247029 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1936_1937del (p.Arg645_Asp646insTer) |
microsatellite |
not provided [RCV001008043] |
Chr2:148469876..148469877 [GRCh38]
Chr2:149227445..149227446 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| GRCh37/hg19 2q23.1(chr2:148789732-148965615)x1 |
copy number loss |
not provided [RCV001005330] |
Chr2:148789732..148965615 [GRCh37]
Chr2:2q23.1 |
likely pathogenic|uncertain significance |
| NM_001378120.1(MBD5):c.4431_4432delinsAA (p.His1478Asn) |
indel |
Intellectual disability, autosomal dominant 1 [RCV003600414]|not provided [RCV001596595] |
Chr2:148490063..148490064 [GRCh38]
Chr2:149247632..149247633 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.398-286C>T |
single nucleotide variant |
not provided [RCV001636290] |
Chr2:148468055 [GRCh38]
Chr2:149225624 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.682G>A (p.Gly228Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001048733] |
Chr2:148468625 [GRCh38]
Chr2:149226194 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1985C>A (p.Pro662Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002416321]|Intellectual disability, autosomal dominant 1 [RCV001034740] |
Chr2:148469928 [GRCh38]
Chr2:149227497 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1180G>A (p.Val394Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005093460]|not provided [RCV001091558] |
Chr2:148469123 [GRCh38]
Chr2:149226692 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2569G>A (p.Ala857Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004986764]|Intellectual disability, autosomal dominant 1 [RCV001049030]|not provided [RCV001576099] |
Chr2:148483160 [GRCh38]
Chr2:149240729 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.540_541delinsTA (p.Arg180_Leu181delinsSerIle) |
indel |
Intellectual disability, autosomal dominant 1 [RCV001049253] |
Chr2:148468483..148468484 [GRCh38]
Chr2:149226052..149226053 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1153G>T (p.Val385Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001866216]|not provided [RCV001590301] |
Chr2:148469096 [GRCh38]
Chr2:149226665 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.114-168T>G |
single nucleotide variant |
not provided [RCV001680539] |
Chr2:148462414 [GRCh38]
Chr2:149219983 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.-557+197A>T |
single nucleotide variant |
not provided [RCV001645957] |
Chr2:148342533 [GRCh38]
Chr2:149100102 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.397+150G>A |
single nucleotide variant |
not provided [RCV001583381] |
Chr2:148464069 [GRCh38]
Chr2:149221638 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.964G>C (p.Glu322Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001036233] |
Chr2:148468907 [GRCh38]
Chr2:149226476 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148755020-148862543)x1 |
copy number loss |
not provided [RCV001005329] |
Chr2:148755020..148862543 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.728del (p.Pro243fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001030998] |
Chr2:148468669 [GRCh38]
Chr2:149226238 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2648T>C (p.Leu883Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034201] |
Chr2:148483239 [GRCh38]
Chr2:149240808 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4358G>A (p.Gly1453Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034273] |
Chr2:148489990 [GRCh38]
Chr2:149247559 [GRCh37]
Chr2:2q23.1 |
benign |
| GRCh37/hg19 2q23.1(chr2:148883626-149209179)x1 |
copy number loss |
not provided [RCV001005333] |
Chr2:148883626..149209179 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.4592G>T (p.Ser1531Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002552055]|Intellectual disability, autosomal dominant 1 [RCV001034311] |
Chr2:148490224 [GRCh38]
Chr2:149247793 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3578A>G (p.Asn1193Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034522]|not provided [RCV001200139] |
Chr2:148485775 [GRCh38]
Chr2:149243344 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.-660A>T |
single nucleotide variant |
not provided [RCV001684840] |
Chr2:148342233 [GRCh38]
Chr2:149099802 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.805A>T (p.Asn269Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001248292]|not provided [RCV001773565] |
Chr2:148468748 [GRCh38]
Chr2:149226317 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.103C>A (p.Leu35Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001214037]|Intellectual disability, autosomal dominant [RCV002272409] |
Chr2:148458861 [GRCh38]
Chr2:149216430 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.428C>T (p.Ala143Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001217175] |
Chr2:148468371 [GRCh38]
Chr2:149225940 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NC_000002.12:g.(?_148458739)_(148463939_?)del |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001032484] |
Chr2:149216308..149221508 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.4730G>A (p.Ser1577Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001206373] |
Chr2:148490362 [GRCh38]
Chr2:149247931 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1890G>T (p.Met630Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001207508] |
Chr2:148469833 [GRCh38]
Chr2:149227402 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.535_547del (p.Gly179fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001220215] |
Chr2:148468475..148468487 [GRCh38]
Chr2:149226044..149226056 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2736C>A (p.His912Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001235962] |
Chr2:148483327 [GRCh38]
Chr2:149240896 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2074G>A (p.Gly692Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001863142]|not provided [RCV001200137] |
Chr2:148470017 [GRCh38]
Chr2:149227586 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1017TCC[1] (p.Pro342del) |
microsatellite |
Intellectual disability, autosomal dominant 1 [RCV001036171] |
Chr2:148468958..148468960 [GRCh38]
Chr2:149226527..149226529 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4837C>G (p.Pro1613Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001057229]|not provided [RCV004768830] |
Chr2:148490469 [GRCh38]
Chr2:149248038 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.842A>G (p.His281Arg) |
single nucleotide variant |
not provided [RCV001091557] |
Chr2:148468785 [GRCh38]
Chr2:149226354 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4809dup (p.Ser1604fs) |
duplication |
not provided [RCV001091560] |
Chr2:148490436..148490437 [GRCh38]
Chr2:149248005..149248006 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.1969C>T (p.Arg657Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003163618]|Intellectual disability, autosomal dominant 1 [RCV001212759] |
Chr2:148469912 [GRCh38]
Chr2:149227481 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.698G>A (p.Gly233Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001235047] |
Chr2:148468641 [GRCh38]
Chr2:149226210 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2642G>A (p.Ser881Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001036615] |
Chr2:148483233 [GRCh38]
Chr2:149240802 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.394A>G (p.Thr132Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001050969] |
Chr2:148463916 [GRCh38]
Chr2:149221485 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2524T>C (p.Ser842Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001039620] |
Chr2:148483115 [GRCh38]
Chr2:149240684 [GRCh37]
Chr2:2q23.1 |
benign|uncertain significance |
| NM_001378120.1(MBD5):c.1138A>G (p.Ser380Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001234026] |
Chr2:148469081 [GRCh38]
Chr2:149226650 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2585C>T (p.Thr862Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001058239] |
Chr2:148483176 [GRCh38]
Chr2:149240745 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.845G>A (p.Gly282Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001204964] |
Chr2:148468788 [GRCh38]
Chr2:149226357 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1417ATG[1] (p.Met474del) |
microsatellite |
Intellectual disability, autosomal dominant 1 [RCV001202420] |
Chr2:148469360..148469362 [GRCh38]
Chr2:149226929..149226931 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1627A>C (p.Thr543Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001236222] |
Chr2:148469570 [GRCh38]
Chr2:149227139 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4002G>T (p.Gln1334His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001054861] |
Chr2:148489634 [GRCh38]
Chr2:149247203 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.515T>C (p.Ile172Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001204328]|not provided [RCV002261303] |
Chr2:148468458 [GRCh38]
Chr2:149226027 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4396A>G (p.Asn1466Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004639430]|Intellectual disability, autosomal dominant 1 [RCV001034336] |
Chr2:148490028 [GRCh38]
Chr2:149247597 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2522G>A (p.Gly841Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001059564]|not provided [RCV003438657] |
Chr2:148483113 [GRCh38]
Chr2:149240682 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1377A>G (p.Arg459=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001236560] |
Chr2:148469320 [GRCh38]
Chr2:149226889 [GRCh37]
Chr2:2q23.1 |
benign|uncertain significance |
| NM_001378120.1(MBD5):c.1462G>A (p.Val488Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001203514] |
Chr2:148469405 [GRCh38]
Chr2:149226974 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4397A>G (p.Asn1466Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004629422]|Intellectual disability, autosomal dominant 1 [RCV001049279] |
Chr2:148490029 [GRCh38]
Chr2:149247598 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1016C>T (p.Pro339Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001039585] |
Chr2:148468959 [GRCh38]
Chr2:149226528 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q22.3-23.1(chr2:148646132-148959158)x1 |
copy number loss |
not provided [RCV001005327] |
Chr2:148646132..148959158 [GRCh37]
Chr2:2q22.3-23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.4285C>G (p.Gln1429Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001039821]|not specified [RCV001819748] |
Chr2:148489917 [GRCh38]
Chr2:149247486 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.80G>A (p.Arg27His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001064401]|not provided [RCV001779114] |
Chr2:148458838 [GRCh38]
Chr2:149216407 [GRCh37]
Chr2:2q23.1 |
likely pathogenic|uncertain significance |
| NM_001378120.1(MBD5):c.1879A>G (p.Thr627Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001064468] |
Chr2:148469822 [GRCh38]
Chr2:149227391 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3824del (p.Pro1275fs) |
deletion |
not provided [RCV001009083] |
Chr2:148489455 [GRCh38]
Chr2:149247024 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.962T>C (p.Met321Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001037393] |
Chr2:148468905 [GRCh38]
Chr2:149226474 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4921G>A (p.Asp1641Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004033541]|Intellectual disability, autosomal dominant 1 [RCV001202601] |
Chr2:148490553 [GRCh38]
Chr2:149248122 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.860C>T (p.Ser287Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001232780] |
Chr2:148468803 [GRCh38]
Chr2:149226372 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4292A>G (p.Asp1431Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001056475] |
Chr2:148489924 [GRCh38]
Chr2:149247493 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4389G>T (p.Arg1463Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001062869] |
Chr2:148490021 [GRCh38]
Chr2:149247590 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5179A>G (p.Arg1727Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001062935] |
Chr2:148512936 [GRCh38]
Chr2:149270505 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1560T>G (p.Asp520Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001056764] |
Chr2:148469503 [GRCh38]
Chr2:149227072 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001197768] |
Chr2:148468773 [GRCh38]
Chr2:149226342 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.3959C>T (p.Ala1320Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001033958] |
Chr2:148489591 [GRCh38]
Chr2:149247160 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.941T>C (p.Met314Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001034034] |
Chr2:148468884 [GRCh38]
Chr2:149226453 [GRCh37]
Chr2:2q23.1 |
likely benign |
| GRCh37/hg19 2q23.1(chr2:148710290-149021799) |
copy number loss |
Microcephaly [RCV001252951] |
Chr2:148710290..149021799 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.998C>A (p.Pro333His) |
single nucleotide variant |
Intellectual disability [RCV001251827] |
Chr2:148468941 [GRCh38]
Chr2:149226510 [GRCh37]
Chr2:2q23.1 |
likely benign |
| GRCh37/hg19 2q22.3-23.1(chr2:148679076-148894267)x1 |
copy number loss |
not provided [RCV001259769] |
Chr2:148679076..148894267 [GRCh37]
Chr2:2q22.3-23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:148746282-148897425)x1 |
copy number loss |
not provided [RCV001259770] |
Chr2:148746282..148897425 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:149166807-149366862)x3 |
copy number gain |
not provided [RCV001259771] |
Chr2:149166807..149366862 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148913951-148963444)x1 |
copy number loss |
not provided [RCV001259772] |
Chr2:148913951..148963444 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148709803-148878665)x3 |
copy number gain |
not provided [RCV001259773] |
Chr2:148709803..148878665 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1119del (p.Val374fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001255696] |
Chr2:148469062 [GRCh38]
Chr2:149226631 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.832G>A (p.Val278Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV001267153] |
Chr2:148468775 [GRCh38]
Chr2:149226344 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001378120.1(MBD5):c.4869G>A (p.Trp1623Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002280365] |
Chr2:148490501 [GRCh38]
Chr2:149248070 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q22.3-23.1(chr2:148698834-148954778) |
copy number loss |
Intellectual disability, autosomal dominant 1 [RCV002280617] |
Chr2:148698834..148954778 [GRCh37]
Chr2:2q22.3-23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.4904A>T (p.Lys1635Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001302893] |
Chr2:148490536 [GRCh38]
Chr2:149248105 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3934G>T (p.Gly1312Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004987046]|Intellectual disability, autosomal dominant 1 [RCV001302997] |
Chr2:148489566 [GRCh38]
Chr2:149247135 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4648del (p.Gln1550fs) |
deletion |
Intellectual disability [RCV001257754] |
Chr2:148490280 [GRCh38]
Chr2:149247849 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.817C>G (p.Leu273Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002546116]|Intellectual disability, autosomal dominant 1 [RCV001324637] |
Chr2:148468760 [GRCh38]
Chr2:149226329 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3079A>G (p.Thr1027Ala) |
single nucleotide variant |
Intellectual disability [RCV001257753] |
Chr2:148483670 [GRCh38]
Chr2:149241239 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1379_1389del (p.Ser460fs) |
deletion |
Intellectual disability [RCV001257755] |
Chr2:148469321..148469331 [GRCh38]
Chr2:149226890..149226900 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.3987del (p.Ser1330fs) |
deletion |
Intellectual disability [RCV001257687] |
Chr2:148489618 [GRCh38]
Chr2:149247187 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2612T>C (p.Val871Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001262785] |
Chr2:148483203 [GRCh38]
Chr2:149240772 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4713A>G (p.Gly1571=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002543551]|not provided [RCV001310435] |
Chr2:148490345 [GRCh38]
Chr2:149247914 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.817C>T (p.Leu273Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001303979] |
Chr2:148468760 [GRCh38]
Chr2:149226329 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.254_255del (p.Arg85fs) |
microsatellite |
not provided [RCV001268058] |
Chr2:148463773..148463774 [GRCh38]
Chr2:149221342..149221343 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.397+172T>C |
single nucleotide variant |
not provided [RCV001548565] |
Chr2:148464091 [GRCh38]
Chr2:149221660 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.877G>A (p.Gly293Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV001265950] |
Chr2:148468820 [GRCh38]
Chr2:149226389 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.670C>T (p.Pro224Ser) |
single nucleotide variant |
Intellectual disability [RCV001257686]|Intellectual disability, autosomal dominant 1 [RCV002069369] |
Chr2:148468613 [GRCh38]
Chr2:149226182 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4318C>A (p.Arg1440=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002071990]|not provided [RCV001545617] |
Chr2:148489950 [GRCh38]
Chr2:149247519 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.467T>C (p.Ile156Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001313883] |
Chr2:148468410 [GRCh38]
Chr2:149225979 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2795A>G (p.His932Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001341703] |
Chr2:148483386 [GRCh38]
Chr2:149240955 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2514A>C (p.Glu838Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001339221] |
Chr2:148470457 [GRCh38]
Chr2:149228026 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3586C>G (p.Leu1196Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001308066] |
Chr2:148485783 [GRCh38]
Chr2:149243352 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4276T>G (p.Ser1426Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001308017] |
Chr2:148489908 [GRCh38]
Chr2:149247477 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.332C>T (p.Thr111Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001308302] |
Chr2:148463854 [GRCh38]
Chr2:149221423 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001332251] |
Chr2:148490180 [GRCh38]
Chr2:149247749 [GRCh37]
Chr2:2q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.370G>C (p.Val124Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001306949] |
Chr2:148463892 [GRCh38]
Chr2:149221461 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396) |
copy number gain |
Global developmental delay [RCV001352659] |
Chr2:136473383..152727396 [GRCh37]
Chr2:2q21.3-23.3 |
pathogenic |
| NM_001378120.1(MBD5):c.457C>T (p.His153Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001397348] |
Chr2:148468400 [GRCh38]
Chr2:149225969 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.81T>G (p.Arg27=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001396926] |
Chr2:148458839 [GRCh38]
Chr2:149216408 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1873C>T (p.Pro625Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001306804] |
Chr2:148469816 [GRCh38]
Chr2:149227385 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5036+6C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001361357] |
Chr2:148502515 [GRCh38]
Chr2:149260084 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2770A>G (p.Ile924Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001326803] |
Chr2:148483361 [GRCh38]
Chr2:149240930 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3758G>A (p.Arg1253Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004036684]|Intellectual disability, autosomal dominant 1 [RCV001352406] |
Chr2:148489390 [GRCh38]
Chr2:149246959 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4194G>A (p.Arg1398=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001433411] |
Chr2:148489826 [GRCh38]
Chr2:149247395 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2051G>A (p.Gly684Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001350825] |
Chr2:148469994 [GRCh38]
Chr2:149227563 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:149254120-149273345) |
copy number loss |
Global developmental delay [RCV001352643] |
Chr2:149254120..149273345 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.2081G>T (p.Gly694Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001368639] |
Chr2:148470024 [GRCh38]
Chr2:149227593 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.57A>G (p.Ile19Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001358921] |
Chr2:148458815 [GRCh38]
Chr2:149216384 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3899T>G (p.Leu1300Arg) |
single nucleotide variant |
not provided [RCV001786655] |
Chr2:148489531 [GRCh38]
Chr2:149247100 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4924G>A (p.Val1642Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003169785]|Intellectual disability, autosomal dominant 1 [RCV001359834] |
Chr2:148490556 [GRCh38]
Chr2:149248125 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2471T>C (p.Ile824Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001370791] |
Chr2:148470414 [GRCh38]
Chr2:149227983 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.797T>G (p.Ile266Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001359262] |
Chr2:148468740 [GRCh38]
Chr2:149226309 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2393A>G (p.Gln798Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001332248] |
Chr2:148470336 [GRCh38]
Chr2:149227905 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4837C>A (p.Pro1613Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001332252] |
Chr2:148490469 [GRCh38]
Chr2:149248038 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2390G>T (p.Ser797Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001373435] |
Chr2:148470333 [GRCh38]
Chr2:149227902 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3925G>A (p.Val1309Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001294255] |
Chr2:148489557 [GRCh38]
Chr2:149247126 [GRCh37]
Chr2:2q23.1 |
benign|uncertain significance |
| NM_001378120.1(MBD5):c.103C>T (p.Leu35Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001306112]|not provided [RCV002245955] |
Chr2:148458861 [GRCh38]
Chr2:149216430 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2688C>T (p.His896=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001332249] |
Chr2:148483279 [GRCh38]
Chr2:149240848 [GRCh37]
Chr2:2q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.2453C>G (p.Thr818Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001343649] |
Chr2:148470396 [GRCh38]
Chr2:149227965 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.353C>A (p.Ala118Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001343653]|not provided [RCV001569991] |
Chr2:148463875 [GRCh38]
Chr2:149221444 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1583G>A (p.Gly528Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001295979] |
Chr2:148469526 [GRCh38]
Chr2:149227095 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4838C>A (p.Pro1613Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001323016]|MBD5-related disorder [RCV003928841]|not provided [RCV001569219] |
Chr2:148490470 [GRCh38]
Chr2:149248039 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1783G>T (p.Ala595Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001346956] |
Chr2:148469726 [GRCh38]
Chr2:149227295 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2558C>T (p.Thr853Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002543207]|Intellectual disability, autosomal dominant 1 [RCV001307633] |
Chr2:148483149 [GRCh38]
Chr2:149240718 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1251G>C (p.Met417Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001344058] |
Chr2:148469194 [GRCh38]
Chr2:149226763 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4648C>A (p.Gln1550Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001324271] |
Chr2:148490280 [GRCh38]
Chr2:149247849 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2567C>T (p.Pro856Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005096042]|not provided [RCV002284800] |
Chr2:148483158 [GRCh38]
Chr2:149240727 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3730G>A (p.Ala1244Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001316877] |
Chr2:148485927 [GRCh38]
Chr2:149243496 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1639G>A (p.Gly547Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001347589]|not provided [RCV001532412] |
Chr2:148469582 [GRCh38]
Chr2:149227151 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5085G>A (p.Met1695Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001334016] |
Chr2:148510108 [GRCh38]
Chr2:149267677 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2308C>T (p.His770Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001352521] |
Chr2:148470251 [GRCh38]
Chr2:149227820 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.50C>T (p.Pro17Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001347884] |
Chr2:148458808 [GRCh38]
Chr2:149216377 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1259G>A (p.Gly420Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001340396] |
Chr2:148469202 [GRCh38]
Chr2:149226771 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4457A>C (p.Asn1486Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001306897] |
Chr2:148490089 [GRCh38]
Chr2:149247658 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1869G>A (p.Met623Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001370766] |
Chr2:148469812 [GRCh38]
Chr2:149227381 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1271A>T (p.Gln424Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001359201] |
Chr2:148469214 [GRCh38]
Chr2:149226783 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2227A>C (p.Ser743Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001324940] |
Chr2:148470170 [GRCh38]
Chr2:149227739 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1828G>A (p.Gly610Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002413889]|Intellectual disability, autosomal dominant 1 [RCV001371392]|not provided [RCV001840804] |
Chr2:148469771 [GRCh38]
Chr2:149227340 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.3663G>T (p.Gly1221=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001412528]|not provided [RCV001534776] |
Chr2:148485860 [GRCh38]
Chr2:149243429 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1990A>G (p.Thr664Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001309636] |
Chr2:148469933 [GRCh38]
Chr2:149227502 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.83G>A (p.Arg28His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001366975] |
Chr2:148458841 [GRCh38]
Chr2:149216410 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4924G>T (p.Val1642Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001371719] |
Chr2:148490556 [GRCh38]
Chr2:149248125 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4112G>A (p.Ser1371Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001327577] |
Chr2:148489744 [GRCh38]
Chr2:149247313 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3770A>T (p.Asp1257Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001327766] |
Chr2:148489402 [GRCh38]
Chr2:149246971 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5130G>C (p.Gln1710His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001369050] |
Chr2:148512887 [GRCh38]
Chr2:149270456 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4963-10C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001413464]|not provided [RCV001540471] |
Chr2:148502426 [GRCh38]
Chr2:149259995 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4811C>T (p.Ser1604Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001365660] |
Chr2:148490443 [GRCh38]
Chr2:149248012 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4820A>T (p.Glu1607Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001365823] |
Chr2:148490452 [GRCh38]
Chr2:149248021 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1884C>G (p.Ala628=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001438395] |
Chr2:148469827 [GRCh38]
Chr2:149227396 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3699A>G (p.Thr1233=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001505697] |
Chr2:148485896 [GRCh38]
Chr2:149243465 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4122T>C (p.Ser1374=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001492367] |
Chr2:148489754 [GRCh38]
Chr2:149247323 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.598C>T (p.Arg200Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002357296]|Intellectual disability, autosomal dominant 1 [RCV001389526]|not provided [RCV003442880] |
Chr2:148468541 [GRCh38]
Chr2:149226110 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NC_000002.11:g.(?_149267619)_(149267714_?)dup |
duplication |
Intellectual disability, autosomal dominant 1 [RCV001377765] |
Chr2:149267619..149267714 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.1872C>T (p.Phe624=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001479470] |
Chr2:148469815 [GRCh38]
Chr2:149227384 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.648C>A (p.Gly216=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001424898] |
Chr2:148468591 [GRCh38]
Chr2:149226160 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3768A>G (p.Glu1256=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001452072] |
Chr2:148489400 [GRCh38]
Chr2:149246969 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4098A>G (p.Pro1366=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001506473] |
Chr2:148489730 [GRCh38]
Chr2:149247299 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.607T>C (p.Leu203=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001488733] |
Chr2:148468550 [GRCh38]
Chr2:149226119 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2565C>T (p.His855=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001471645] |
Chr2:148483156 [GRCh38]
Chr2:149240725 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1509A>G (p.Ser503=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001491565] |
Chr2:148469452 [GRCh38]
Chr2:149227021 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.537A>G (p.Gly179=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001475628] |
Chr2:148468480 [GRCh38]
Chr2:149226049 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2286C>T (p.His762=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001425985]|not provided [RCV004809595] |
Chr2:148470229 [GRCh38]
Chr2:149227798 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4159C>A (p.His1387Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001431302] |
Chr2:148489791 [GRCh38]
Chr2:149247360 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4326G>A (p.Arg1442=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001474374] |
Chr2:148489958 [GRCh38]
Chr2:149247527 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.24C>T (p.Asp8=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001455760]|not provided [RCV001655726] |
Chr2:148458782 [GRCh38]
Chr2:149216351 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1969C>A (p.Arg657=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001453099] |
Chr2:148469912 [GRCh38]
Chr2:149227481 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004988623]|Intellectual disability, autosomal dominant 1 [RCV001415601] |
Chr2:148469606 [GRCh38]
Chr2:149227175 [GRCh37]
Chr2:2q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001378120.1(MBD5):c.183G>A (p.Lys61=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001484265]|not provided [RCV001587430] |
Chr2:148462651 [GRCh38]
Chr2:149220220 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2647C>T (p.Leu883=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001423612] |
Chr2:148483238 [GRCh38]
Chr2:149240807 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1974A>G (p.Lys658=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001418991] |
Chr2:148469917 [GRCh38]
Chr2:149227486 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter) |
single nucleotide variant |
Autism spectrum disorder [RCV003127861]|Intellectual disability, autosomal dominant 1 [RCV001388646] |
Chr2:148462648 [GRCh38]
Chr2:149220217 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2519-8del |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001483711] |
Chr2:148483102 [GRCh38]
Chr2:149240671 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.936dup (p.Pro313fs) |
duplication |
Intellectual disability, autosomal dominant 1 [RCV001376000] |
Chr2:148468873..148468874 [GRCh38]
Chr2:149226442..149226443 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.1008A>G (p.Pro336=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001401499] |
Chr2:148468951 [GRCh38]
Chr2:149226520 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2373G>A (p.Gly791=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001429564] |
Chr2:148470316 [GRCh38]
Chr2:149227885 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1713T>G (p.Ala571=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001427147] |
Chr2:148469656 [GRCh38]
Chr2:149227225 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.469_476del (p.Thr157fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001381929] |
Chr2:148468412..148468419 [GRCh38]
Chr2:149225981..149225988 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1266T>C (p.His422=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001472725] |
Chr2:148469209 [GRCh38]
Chr2:149226778 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4718T>G (p.Phe1573Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001493664] |
Chr2:148490350 [GRCh38]
Chr2:149247919 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5092C>T (p.Leu1698=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001424422] |
Chr2:148510115 [GRCh38]
Chr2:149267684 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.840A>G (p.Leu280=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001411859] |
Chr2:148468783 [GRCh38]
Chr2:149226352 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4020A>G (p.Ala1340=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001420103]|MBD5-related disorder [RCV003900448] |
Chr2:148489652 [GRCh38]
Chr2:149247221 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.654T>C (p.His218=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001411995] |
Chr2:148468597 [GRCh38]
Chr2:149226166 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1449del (p.Ser484fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001389351] |
Chr2:148469392 [GRCh38]
Chr2:149226961 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.171T>C (p.Asp57=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001416921] |
Chr2:148462639 [GRCh38]
Chr2:149220208 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1606C>G (p.Pro536Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001446503] |
Chr2:148469549 [GRCh38]
Chr2:149227118 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2519-9del |
deletion |
Intellectual disability, autosomal dominant 1 [RCV002070377]|not provided [RCV001638125]|not specified [RCV001530165] |
Chr2:148483089 [GRCh38]
Chr2:149240658 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.4134T>C (p.His1378=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001426367] |
Chr2:148489766 [GRCh38]
Chr2:149247335 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.707C>G (p.Ser236Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001387381] |
Chr2:148468650 [GRCh38]
Chr2:149226219 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.4950C>T (p.Pro1650=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001400987]|not provided [RCV001692378] |
Chr2:148490582 [GRCh38]
Chr2:149248151 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4296G>C (p.Gly1432=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001449044]|not provided [RCV004711636] |
Chr2:148489928 [GRCh38]
Chr2:149247497 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5033G>T (p.Arg1678Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001417311] |
Chr2:148502506 [GRCh38]
Chr2:149260075 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1367C>T (p.Ser456Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004988626]|Intellectual disability, autosomal dominant 1 [RCV001418345] |
Chr2:148469310 [GRCh38]
Chr2:149226879 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1104A>C (p.Pro368=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001405440]|not provided [RCV003438771] |
Chr2:148469047 [GRCh38]
Chr2:149226616 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.531C>T (p.Ala177=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001444625] |
Chr2:148468474 [GRCh38]
Chr2:149226043 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4827A>C (p.Ile1609=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001423274] |
Chr2:148490459 [GRCh38]
Chr2:149248028 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1245T>C (p.Gly415=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001437406] |
Chr2:148469188 [GRCh38]
Chr2:149226757 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.589G>T (p.Val197Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001431465] |
Chr2:148468532 [GRCh38]
Chr2:149226101 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2004T>C (p.Ser668=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001444751] |
Chr2:148469947 [GRCh38]
Chr2:149227516 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4971C>T (p.Pro1657=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001447450]|not provided [RCV003883648] |
Chr2:148502444 [GRCh38]
Chr2:149260013 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1326C>T (p.Pro442=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001436371] |
Chr2:148469269 [GRCh38]
Chr2:149226838 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1035T>C (p.Ala345=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001401378] |
Chr2:148468978 [GRCh38]
Chr2:149226547 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5007C>T (p.Ala1669=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001417746] |
Chr2:148502480 [GRCh38]
Chr2:149260049 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.198T>C (p.Cys66=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001434656] |
Chr2:148462666 [GRCh38]
Chr2:149220235 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.504C>A (p.Phe168Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001398272] |
Chr2:148468447 [GRCh38]
Chr2:149226016 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3666C>T (p.Tyr1222=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001411071] |
Chr2:148485863 [GRCh38]
Chr2:149243432 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.477T>C (p.Ser159=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001445495] |
Chr2:148468420 [GRCh38]
Chr2:149225989 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1386A>G (p.Ser462=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001445565] |
Chr2:148469329 [GRCh38]
Chr2:149226898 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4215T>C (p.His1405=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001443134] |
Chr2:148489847 [GRCh38]
Chr2:149247416 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3754-48dup |
duplication |
not provided [RCV001653115] |
Chr2:148489337..148489338 [GRCh38]
Chr2:149246906..149246907 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.1260G>C (p.Gly420=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001468537] |
Chr2:148469203 [GRCh38]
Chr2:149226772 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.638C>T (p.Pro213Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001479414] |
Chr2:148468581 [GRCh38]
Chr2:149226150 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4125G>A (p.Ala1375=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001499633] |
Chr2:148489757 [GRCh38]
Chr2:149247326 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3918T>C (p.Asp1306=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001465223] |
Chr2:148489550 [GRCh38]
Chr2:149247119 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3112A>G (p.Ser1038Gly) |
single nucleotide variant |
not provided [RCV001680328] |
Chr2:148483703 [GRCh38]
Chr2:149241272 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.3988A>G (p.Ser1330Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001497878] |
Chr2:148489620 [GRCh38]
Chr2:149247189 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.666C>T (p.Pro222=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001504392] |
Chr2:148468609 [GRCh38]
Chr2:149226178 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3963T>C (p.Ile1321=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001488681] |
Chr2:148489595 [GRCh38]
Chr2:149247164 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.*5G>C |
single nucleotide variant |
MBD5-related disorder [RCV003913331]|not provided [RCV001716801] |
Chr2:148512946 [GRCh38]
Chr2:149270515 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.113+9T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001436090] |
Chr2:148458880 [GRCh38]
Chr2:149216449 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4029T>C (p.Ser1343=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001399705] |
Chr2:148489661 [GRCh38]
Chr2:149247230 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2649A>G (p.Leu883=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001399339] |
Chr2:148483240 [GRCh38]
Chr2:149240809 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4585C>T (p.Arg1529Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001385237] |
Chr2:148490217 [GRCh38]
Chr2:149247786 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2416T>G (p.Ser806Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004988663]|Intellectual disability, autosomal dominant 1 [RCV001523035]|not provided [RCV001581175] |
Chr2:148470359 [GRCh38]
Chr2:149227928 [GRCh37]
Chr2:2q23.1 |
benign|uncertain significance |
| NM_001378120.1(MBD5):c.3920G>T (p.Gly1307Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001506536] |
Chr2:148489552 [GRCh38]
Chr2:149247121 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3840T>C (p.Thr1280=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001498600] |
Chr2:148489472 [GRCh38]
Chr2:149247041 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4131T>C (p.Ile1377=) |
single nucleotide variant |
Inborn genetic diseases [RCV002456789]|Intellectual disability, autosomal dominant 1 [RCV001464368] |
Chr2:148489763 [GRCh38]
Chr2:149247332 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2160C>G (p.Thr720=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001488565] |
Chr2:148470103 [GRCh38]
Chr2:149227672 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1563C>T (p.Ile521=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001417690] |
Chr2:148469506 [GRCh38]
Chr2:149227075 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1194T>G (p.Pro398=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001415641] |
Chr2:148469137 [GRCh38]
Chr2:149226706 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1911G>A (p.Gly637=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001440646] |
Chr2:148469854 [GRCh38]
Chr2:149227423 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.189C>T (p.Gly63=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001498694] |
Chr2:148462657 [GRCh38]
Chr2:149220226 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.798T>A (p.Ile266=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001437188] |
Chr2:148468741 [GRCh38]
Chr2:149226310 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3642A>T (p.Gln1214His) |
single nucleotide variant |
Inborn genetic diseases [RCV003284352]|Intellectual disability, autosomal dominant 1 [RCV001494497]|not provided [RCV001508083] |
Chr2:148485839 [GRCh38]
Chr2:149243408 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.900C>T (p.Ser300=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001468269] |
Chr2:148468843 [GRCh38]
Chr2:149226412 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3797G>T (p.Ser1266Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002244218] |
Chr2:148489429 [GRCh38]
Chr2:149246998 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2127T>A (p.Ser709Arg) |
single nucleotide variant |
not specified [RCV002249361] |
Chr2:148470070 [GRCh38]
Chr2:149227639 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.4651T>C (p.Ser1551Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003108434]|not provided [RCV003992742] |
Chr2:148490283 [GRCh38]
Chr2:149247852 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1330C>A (p.His444Asn) |
single nucleotide variant |
not provided [RCV001756459] |
Chr2:148469273 [GRCh38]
Chr2:149226842 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:149216328-149260078)x1 |
copy number loss |
not provided [RCV001727193] |
Chr2:149216328..149260078 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1165G>A (p.Val389Ile) |
single nucleotide variant |
not provided [RCV001727156] |
Chr2:148469108 [GRCh38]
Chr2:149226677 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148789732-148901245)x1 |
copy number loss |
not provided [RCV001834409] |
Chr2:148789732..148901245 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1597C>A (p.Leu533Ile) |
single nucleotide variant |
not provided [RCV001761257] |
Chr2:148469540 [GRCh38]
Chr2:149227109 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1297T>A (p.Ser433Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001990372] |
Chr2:148469240 [GRCh38]
Chr2:149226809 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4535G>T (p.Arg1512Ile) |
single nucleotide variant |
not provided [RCV001757939] |
Chr2:148490167 [GRCh38]
Chr2:149247736 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2552C>A (p.Ala851Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002540440]|not provided [RCV001761194] |
Chr2:148483143 [GRCh38]
Chr2:149240712 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1708A>G (p.Asn570Asp) |
single nucleotide variant |
not provided [RCV001761205] |
Chr2:148469651 [GRCh38]
Chr2:149227220 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1909G>A (p.Gly637Arg) |
single nucleotide variant |
not provided [RCV001754339] |
Chr2:148469852 [GRCh38]
Chr2:149227421 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4573G>T (p.Gly1525Trp) |
single nucleotide variant |
not provided [RCV001754533] |
Chr2:148490205 [GRCh38]
Chr2:149247774 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2528G>A (p.Gly843Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495251]|not provided [RCV001771475] |
Chr2:148483119 [GRCh38]
Chr2:149240688 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5128C>G (p.Gln1710Glu) |
single nucleotide variant |
not provided [RCV001774176] |
Chr2:148512885 [GRCh38]
Chr2:149270454 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3728T>C (p.Met1243Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600416]|not provided [RCV001765695] |
Chr2:148485925 [GRCh38]
Chr2:149243494 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2119T>G (p.Ser707Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600415]|not provided [RCV001751810] |
Chr2:148470062 [GRCh38]
Chr2:149227631 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2762C>T (p.Ser921Phe) |
single nucleotide variant |
not provided [RCV001767612] |
Chr2:148483353 [GRCh38]
Chr2:149240922 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2165G>A (p.Gly722Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002540584]|not provided [RCV001773296] |
Chr2:148470108 [GRCh38]
Chr2:149227677 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148726315-148824342)x1 |
copy number loss |
not provided [RCV001795840] |
Chr2:148726315..148824342 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.322G>A (p.Ala108Thr) |
single nucleotide variant |
not provided [RCV001769404] |
Chr2:148463844 [GRCh38]
Chr2:149221413 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4312G>A (p.Gly1438Arg) |
single nucleotide variant |
not provided [RCV001769478] |
Chr2:148489944 [GRCh38]
Chr2:149247513 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.70G>T (p.Gly24Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002032839]|not provided [RCV001765272] |
Chr2:148458828 [GRCh38]
Chr2:149216397 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4670G>A (p.Ser1557Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001885216]|not provided [RCV001794722] |
Chr2:148490302 [GRCh38]
Chr2:149247871 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4234G>A (p.Gly1412Arg) |
single nucleotide variant |
not provided [RCV001765727] |
Chr2:148489866 [GRCh38]
Chr2:149247435 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4864G>A (p.Val1622Ile) |
single nucleotide variant |
not provided [RCV001765810] |
Chr2:148490496 [GRCh38]
Chr2:149248065 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.163C>G (p.Leu55Val) |
single nucleotide variant |
not provided [RCV001769042] |
Chr2:148462631 [GRCh38]
Chr2:149220200 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.275C>G (p.Ala92Gly) |
single nucleotide variant |
not provided [RCV001769225] |
Chr2:148463797 [GRCh38]
Chr2:149221366 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2523_2528del (p.Ser842_Gly843del) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001885220]|not provided [RCV001794848] |
Chr2:148483112..148483117 [GRCh38]
Chr2:149240681..149240686 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3901G>C (p.Gly1301Arg) |
single nucleotide variant |
not provided [RCV001797330] |
Chr2:148489533 [GRCh38]
Chr2:149247102 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.195A>G (p.Glu65=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600421]|not specified [RCV001819398] |
Chr2:148462663 [GRCh38]
Chr2:149220232 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2380G>A (p.Gly794Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001809220] |
Chr2:148470323 [GRCh38]
Chr2:149227892 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1256A>G (p.His419Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001809219] |
Chr2:148469199 [GRCh38]
Chr2:149226768 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5149C>G (p.Pro1717Ala) |
single nucleotide variant |
not specified [RCV001819419] |
Chr2:148512906 [GRCh38]
Chr2:149270475 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2482A>C (p.Ile828Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001993848] |
Chr2:148470425 [GRCh38]
Chr2:149227994 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4963-2A>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001809222] |
Chr2:148502434 [GRCh38]
Chr2:149260003 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:149123669-149665709) |
copy number gain |
not specified [RCV002053250] |
Chr2:149123669..149665709 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.706T>G (p.Ser236Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001870788] |
Chr2:148468649 [GRCh38]
Chr2:149226218 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1420A>G (p.Met474Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001876373] |
Chr2:148469363 [GRCh38]
Chr2:149226932 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2237C>G (p.Ser746Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001839296] |
Chr2:148470180 [GRCh38]
Chr2:149227749 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.413T>C (p.Val138Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001874484] |
Chr2:148468356 [GRCh38]
Chr2:149225925 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1012C>T (p.Pro338Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002003495]|not provided [RCV004591688] |
Chr2:148468955 [GRCh38]
Chr2:149226524 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4850A>C (p.Asn1617Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002004896] |
Chr2:148490482 [GRCh38]
Chr2:149248051 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1250T>C (p.Met417Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002013902] |
Chr2:148469193 [GRCh38]
Chr2:149226762 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2381G>A (p.Gly794Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002005217] |
Chr2:148470324 [GRCh38]
Chr2:149227893 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3727A>G (p.Met1243Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001864416] |
Chr2:148485924 [GRCh38]
Chr2:149243493 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4833T>C (p.Tyr1611=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001867445] |
Chr2:148490465 [GRCh38]
Chr2:149248034 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2127T>G (p.Ser709Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001870007] |
Chr2:148470070 [GRCh38]
Chr2:149227639 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001872378]|See cases [RCV002252711]|not provided [RCV003438882] |
Chr2:148469322 [GRCh38]
Chr2:149226891 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1081C>T (p.Leu361Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001864600] |
Chr2:148469024 [GRCh38]
Chr2:149226593 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1084G>C (p.Asp362His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001867698] |
Chr2:148469027 [GRCh38]
Chr2:149226596 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2519G>C (p.Gly840Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002041601] |
Chr2:148483110 [GRCh38]
Chr2:149240679 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q22.3-23.1(chr2:146803587-149568729) |
copy number loss |
not specified [RCV002053240] |
Chr2:146803587..149568729 [GRCh37]
Chr2:2q22.3-23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1319C>G (p.Thr440Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002042934] |
Chr2:148469262 [GRCh38]
Chr2:149226831 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819) |
copy number loss |
not specified [RCV002053238] |
Chr2:143258712..152867819 [GRCh37]
Chr2:2q22.2-23.3 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:148728326-148851964) |
copy number loss |
not specified [RCV002053243] |
Chr2:148728326..148851964 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:148746282-149079105) |
copy number loss |
not specified [RCV002053245] |
Chr2:148746282..149079105 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2120C>T (p.Ser707Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002017964] |
Chr2:148470063 [GRCh38]
Chr2:149227632 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4143C>G (p.Asn1381Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002047559] |
Chr2:148489775 [GRCh38]
Chr2:149247344 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1646G>A (p.Ser549Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002045354] |
Chr2:148469589 [GRCh38]
Chr2:149227158 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4133A>G (p.His1378Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002028634] |
Chr2:148489765 [GRCh38]
Chr2:149247334 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2527_2529dup (p.Gly843dup) |
duplication |
Intellectual disability, autosomal dominant 1 [RCV002009901] |
Chr2:148483116..148483117 [GRCh38]
Chr2:149240685..149240686 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.513G>A (p.Met171Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002003926] |
Chr2:148468456 [GRCh38]
Chr2:149226025 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1229C>A (p.Pro410Gln) |
single nucleotide variant |
not provided [RCV001840888] |
Chr2:148469172 [GRCh38]
Chr2:149226741 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4268G>T (p.Cys1423Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002028920] |
Chr2:148489900 [GRCh38]
Chr2:149247469 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.989A>G (p.His330Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001993495] |
Chr2:148468932 [GRCh38]
Chr2:149226501 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1468C>G (p.Pro490Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002030002] |
Chr2:148469411 [GRCh38]
Chr2:149226980 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1849C>T (p.His617Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002034273]|not provided [RCV003327552] |
Chr2:148469792 [GRCh38]
Chr2:149227361 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.136T>C (p.Cys46Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001837366] |
Chr2:148462604 [GRCh38]
Chr2:149220173 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1850A>G (p.His617Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001885373]|not specified [RCV001825084] |
Chr2:148469793 [GRCh38]
Chr2:149227362 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148728409-149130479) |
copy number loss |
not specified [RCV002053244] |
Chr2:148728409..149130479 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1-23.3(chr2:148954840-150800195) |
copy number gain |
not specified [RCV002053249] |
Chr2:148954840..150800195 [GRCh37]
Chr2:2q23.1-23.3 |
uncertain significance |
| GRCh37/hg19 2q23.1-23.2(chr2:149218583-149933863) |
copy number gain |
not specified [RCV002053252] |
Chr2:149218583..149933863 [GRCh37]
Chr2:2q23.1-23.2 |
uncertain significance |
| NM_001378120.1(MBD5):c.4703A>G (p.His1568Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002043002] |
Chr2:148490335 [GRCh38]
Chr2:149247904 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148897424-148979973) |
copy number loss |
not specified [RCV002053248] |
Chr2:148897424..148979973 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:149201266-149239392) |
copy number gain |
not specified [RCV002053251] |
Chr2:149201266..149239392 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.4679A>T (p.Asn1560Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002007941] |
Chr2:148490311 [GRCh38]
Chr2:149247880 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4962+6C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002011365] |
Chr2:148490600 [GRCh38]
Chr2:149248169 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1578T>A (p.Ile526=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002013651] |
Chr2:148469521 [GRCh38]
Chr2:149227090 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4769G>A (p.Ser1590Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002019989] |
Chr2:148490401 [GRCh38]
Chr2:149247970 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148762386-148932571)x1 |
copy number loss |
not provided [RCV001833042] |
Chr2:148762386..148932571 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:148840142-148963444)x1 |
copy number loss |
not provided [RCV001829156] |
Chr2:148840142..148963444 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q22.3-23.1(chr2:148698523-148900148) |
copy number loss |
not specified [RCV002053242] |
Chr2:148698523..148900148 [GRCh37]
Chr2:2q22.3-23.1 |
pathogenic |
| GRCh37/hg19 2q23.1(chr2:148894900-148979973) |
copy number loss |
not specified [RCV002053246] |
Chr2:148894900..148979973 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2452A>G (p.Thr818Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002006785] |
Chr2:148470395 [GRCh38]
Chr2:149227964 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1499_1500dup (p.Arg501fs) |
duplication |
Intellectual disability, autosomal dominant 1 [RCV002002573] |
Chr2:148469441..148469442 [GRCh38]
Chr2:149227010..149227011 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.3650A>G (p.Gln1217Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002040522] |
Chr2:148485847 [GRCh38]
Chr2:149243416 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4729del (p.Ser1577fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV002007142] |
Chr2:148490358 [GRCh38]
Chr2:149247927 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.224A>G (p.Asn75Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002020067] |
Chr2:148463746 [GRCh38]
Chr2:149221315 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3685C>A (p.Gln1229Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002046051] |
Chr2:148485882 [GRCh38]
Chr2:149243451 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2565C>G (p.His855Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002425425]|Intellectual disability, autosomal dominant 1 [RCV002023469] |
Chr2:148483156 [GRCh38]
Chr2:149240725 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002019422]|See cases [RCV002252748]|not provided [RCV003434381]|not specified [RCV002246647] |
Chr2:148469415 [GRCh38]
Chr2:149226984 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| GRCh37/hg19 2q22.2-23.3(chr2:142409401-152680804)x3 |
copy number gain |
not provided [RCV001834428] |
Chr2:142409401..152680804 [GRCh37]
Chr2:2q22.2-23.3 |
pathogenic |
| NM_001378120.1(MBD5):c.677C>T (p.Ser226Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001823481] |
Chr2:148468620 [GRCh38]
Chr2:149226189 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1457T>A (p.Ile486Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001963571] |
Chr2:148469400 [GRCh38]
Chr2:149226969 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.889A>G (p.Ile297Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001965212] |
Chr2:148468832 [GRCh38]
Chr2:149226401 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5159C>T (p.Pro1720Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001944311] |
Chr2:148512916 [GRCh38]
Chr2:149270485 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1258G>A (p.Gly420Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001976062] |
Chr2:148469201 [GRCh38]
Chr2:149226770 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.889A>C (p.Ile297Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001978986] |
Chr2:148468832 [GRCh38]
Chr2:149226401 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.710_725del (p.Ile237fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001956049] |
Chr2:148468652..148468667 [GRCh38]
Chr2:149226221..149226236 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.143del (p.Glu48fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001927063] |
Chr2:148462611 [GRCh38]
Chr2:149220180 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.4091G>A (p.Gly1364Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001929782] |
Chr2:148489723 [GRCh38]
Chr2:149247292 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2740T>G (p.Leu914Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001961620] |
Chr2:148483331 [GRCh38]
Chr2:149240900 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3907C>T (p.Gln1303Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001928699] |
Chr2:148489539 [GRCh38]
Chr2:149247108 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.611G>A (p.Gly204Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001901029] |
Chr2:148468554 [GRCh38]
Chr2:149226123 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2720A>G (p.Asn907Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001958060] |
Chr2:148483311 [GRCh38]
Chr2:149240880 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.674C>T (p.Ala225Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001960068] |
Chr2:148468617 [GRCh38]
Chr2:149226186 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2113del (p.Leu705fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001989971] |
Chr2:148470056 [GRCh38]
Chr2:149227625 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1528A>G (p.Thr510Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001906984] |
Chr2:148469471 [GRCh38]
Chr2:149227040 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1213A>G (p.Ser405Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001908512]|not provided [RCV004728904] |
Chr2:148469156 [GRCh38]
Chr2:149226725 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1335G>C (p.Met445Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001880426]|not provided [RCV003326590] |
Chr2:148469278 [GRCh38]
Chr2:149226847 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.437G>T (p.Arg146Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001938235] |
Chr2:148468380 [GRCh38]
Chr2:149225949 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.952T>C (p.Ser318Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001912369] |
Chr2:148468895 [GRCh38]
Chr2:149226464 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4097C>G (p.Pro1366Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001969400] |
Chr2:148489729 [GRCh38]
Chr2:149247298 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3790A>T (p.Arg1264Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001970189] |
Chr2:148489422 [GRCh38]
Chr2:149246991 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.25G>A (p.Gly9Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002552259]|Intellectual disability, autosomal dominant 1 [RCV001914534] |
Chr2:148458783 [GRCh38]
Chr2:149216352 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4124C>T (p.Ala1375Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001942479] |
Chr2:148489756 [GRCh38]
Chr2:149247325 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1718C>T (p.Ser573Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001971409] |
Chr2:148469661 [GRCh38]
Chr2:149227230 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1288G>T (p.Ala430Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001974789] |
Chr2:148469231 [GRCh38]
Chr2:149226800 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1669T>A (p.Leu557Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001890761] |
Chr2:148469612 [GRCh38]
Chr2:149227181 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4237G>A (p.Asp1413Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001924056] |
Chr2:148489869 [GRCh38]
Chr2:149247438 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NC_000002.11:g.(?_148730288)_(149270510_?)del |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001951522] |
Chr2:148730288..149270510 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.3812T>C (p.Leu1271Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001894114] |
Chr2:148489444 [GRCh38]
Chr2:149247013 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3695C>A (p.Ser1232Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001896707] |
Chr2:148485892 [GRCh38]
Chr2:149243461 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1969C>G (p.Arg657Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001952787]|not provided [RCV002286860] |
Chr2:148469912 [GRCh38]
Chr2:149227481 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4313G>A (p.Gly1438Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001986336] |
Chr2:148489945 [GRCh38]
Chr2:149247514 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2472A>G (p.Ile824Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001986396] |
Chr2:148470415 [GRCh38]
Chr2:149227984 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1379C>A (p.Ser460Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001962826] |
Chr2:148469322 [GRCh38]
Chr2:149226891 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.290C>T (p.Thr97Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001879461] |
Chr2:148463812 [GRCh38]
Chr2:149221381 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4168A>G (p.Arg1390Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001934331] |
Chr2:148489800 [GRCh38]
Chr2:149247369 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4417C>G (p.Leu1473Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001938708] |
Chr2:148490049 [GRCh38]
Chr2:149247618 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4849A>G (p.Asn1617Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001967927] |
Chr2:148490481 [GRCh38]
Chr2:149248050 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1709A>G (p.Asn570Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001910342] |
Chr2:148469652 [GRCh38]
Chr2:149227221 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4447C>A (p.Pro1483Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003167223]|Intellectual disability, autosomal dominant 1 [RCV001910504] |
Chr2:148490079 [GRCh38]
Chr2:149247648 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.259G>A (p.Ala87Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001938966] |
Chr2:148463781 [GRCh38]
Chr2:149221350 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4115C>T (p.Ala1372Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001884931] |
Chr2:148489747 [GRCh38]
Chr2:149247316 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.379A>C (p.Ser127Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001914841] |
Chr2:148463901 [GRCh38]
Chr2:149221470 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NC_000002.11:g.(?_149216328)_(149228050_?)del |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001975144] |
Chr2:149216328..149228050 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1262G>A (p.Ser421Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001979304] |
Chr2:148469205 [GRCh38]
Chr2:149226774 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.560C>A (p.Pro187His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001935476] |
Chr2:148468503 [GRCh38]
Chr2:149226072 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1648del (p.Ser550fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001974967] |
Chr2:148469590 [GRCh38]
Chr2:149227159 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.3650_3652del (p.Gln1217del) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001898343] |
Chr2:148485846..148485848 [GRCh38]
Chr2:149243415..149243417 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2465C>T (p.Pro822Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001978204] |
Chr2:148470408 [GRCh38]
Chr2:149227977 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3769del (p.Asp1257fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001939035] |
Chr2:148489401 [GRCh38]
Chr2:149246970 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.4915G>A (p.Glu1639Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001939941] |
Chr2:148490547 [GRCh38]
Chr2:149248116 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1188del (p.Met396fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001925710] |
Chr2:148469131 [GRCh38]
Chr2:149226700 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2356C>T (p.Gln786Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001964694] |
Chr2:148470299 [GRCh38]
Chr2:149227868 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2653A>G (p.Ile885Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001907766] |
Chr2:148483244 [GRCh38]
Chr2:149240813 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2539T>C (p.Ser847Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001969989] |
Chr2:148483130 [GRCh38]
Chr2:149240699 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3572del (p.Thr1190_Leu1191insTer) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV001970036] |
Chr2:148485767 [GRCh38]
Chr2:149243336 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2396C>T (p.Ser799Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV001892268] |
Chr2:148470339 [GRCh38]
Chr2:149227908 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2397G>A (p.Ser799=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002185613] |
Chr2:148470340 [GRCh38]
Chr2:149227909 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.580C>A (p.Leu194Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002210347] |
Chr2:148468523 [GRCh38]
Chr2:149226092 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3891C>T (p.Asp1297=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002105947] |
Chr2:148489523 [GRCh38]
Chr2:149247092 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4889C>A (p.Thr1630Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002086121] |
Chr2:148490521 [GRCh38]
Chr2:149248090 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2519-20T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002128744]|not provided [RCV004711864] |
Chr2:148483090 [GRCh38]
Chr2:149240659 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1406A>C (p.His469Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002130664] |
Chr2:148469349 [GRCh38]
Chr2:149226918 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2637G>C (p.Leu879=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002074951] |
Chr2:148483228 [GRCh38]
Chr2:149240797 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2121T>C (p.Ser707=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002188203] |
Chr2:148470064 [GRCh38]
Chr2:149227633 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4083C>T (p.Ala1361=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002147746] |
Chr2:148489715 [GRCh38]
Chr2:149247284 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NC_000002.11:g.(?_149216328)_(149270510_?)dup |
duplication |
Intellectual disability, autosomal dominant 1 [RCV002129396] |
Chr2:149216328..149270510 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1913A>G (p.Gln638Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002106771] |
Chr2:148469856 [GRCh38]
Chr2:149227425 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1902A>G (p.Thr634=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002071118] |
Chr2:148469845 [GRCh38]
Chr2:149227414 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.109G>A (p.Val37Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002129744] |
Chr2:148458867 [GRCh38]
Chr2:149216436 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.*50A>G |
single nucleotide variant |
not provided [RCV002244357] |
Chr2:148512991 [GRCh38]
Chr2:149270560 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5058T>C (p.His1686=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002109584] |
Chr2:148510081 [GRCh38]
Chr2:149267650 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2768C>T (p.Pro923Leu) |
single nucleotide variant |
not provided [RCV002226005] |
Chr2:148483359 [GRCh38]
Chr2:149240928 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.798T>C (p.Ile266=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002148002] |
Chr2:148468741 [GRCh38]
Chr2:149226310 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.693A>T (p.Ile231=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002185483] |
Chr2:148468636 [GRCh38]
Chr2:149226205 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2778G>A (p.Leu926=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002208530] |
Chr2:148483369 [GRCh38]
Chr2:149240938 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1363G>A (p.Ala455Thr) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV002226417]|Intellectual disability, autosomal dominant 1 [RCV002300653]|not provided [RCV002254364] |
Chr2:148469306 [GRCh38]
Chr2:149226875 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance|not provided |
| NM_001378120.1(MBD5):c.2187T>G (p.Ala729=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002105207] |
Chr2:148470130 [GRCh38]
Chr2:149227699 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5113-6T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002075164] |
Chr2:148512864 [GRCh38]
Chr2:149270433 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.1865C>T (p.Thr622Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002216375] |
Chr2:148469808 [GRCh38]
Chr2:149227377 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.211C>T (p.Pro71Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002106761] |
Chr2:148462679 [GRCh38]
Chr2:149220248 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1551G>A (p.Gln517=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002071117] |
Chr2:148469494 [GRCh38]
Chr2:149227063 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4127T>A (p.Val1376Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003289429]|Intellectual disability, autosomal dominant 1 [RCV002213244] |
Chr2:148489759 [GRCh38]
Chr2:149247328 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2304T>C (p.Phe768=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002212053] |
Chr2:148470247 [GRCh38]
Chr2:149227816 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2627G>A (p.Gly876Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002172544]|not provided [RCV002479855] |
Chr2:148483218 [GRCh38]
Chr2:149240787 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2685G>A (p.Glu895=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002194099] |
Chr2:148483276 [GRCh38]
Chr2:149240845 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2115A>G (p.Leu705=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002215763] |
Chr2:148470058 [GRCh38]
Chr2:149227627 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4950C>G (p.Pro1650=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002113985] |
Chr2:148490582 [GRCh38]
Chr2:149248151 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5112+11T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002215194] |
Chr2:148510146 [GRCh38]
Chr2:149267715 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4188G>A (p.Gly1396=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002194461] |
Chr2:148489820 [GRCh38]
Chr2:149247389 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2429A>G (p.Asn810Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003161554]|Intellectual disability, autosomal dominant 1 [RCV002079511] |
Chr2:148470372 [GRCh38]
Chr2:149227941 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1117C>G (p.Pro373Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002173483] |
Chr2:148469060 [GRCh38]
Chr2:149226629 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1462G>C (p.Val488Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002080622] |
Chr2:148469405 [GRCh38]
Chr2:149226974 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2442A>G (p.Ser814=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002097220] |
Chr2:148470385 [GRCh38]
Chr2:149227954 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2559C>A (p.Thr853=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002114504] |
Chr2:148483150 [GRCh38]
Chr2:149240719 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1989T>C (p.Pro663=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002173047] |
Chr2:148469932 [GRCh38]
Chr2:149227501 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4294G>C (p.Gly1432Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002149381] |
Chr2:148489926 [GRCh38]
Chr2:149247495 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.707C>T (p.Ser236Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003070630]|Intellectual disability, autosomal dominant 1 [RCV002150587] |
Chr2:148468650 [GRCh38]
Chr2:149226219 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.68del (p.Val23fs) |
deletion |
not provided [RCV002214161] |
Chr2:148458826 [GRCh38]
Chr2:149216395 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1618G>C (p.Ala540Pro) |
single nucleotide variant |
not provided [RCV002214162] |
Chr2:148469561 [GRCh38]
Chr2:149227130 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3207C>T (p.Asn1069=) |
single nucleotide variant |
not provided [RCV002214163] |
Chr2:148483798 [GRCh38]
Chr2:149241367 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.4557A>G (p.Arg1519=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003101236]|not provided [RCV002214164] |
Chr2:148490189 [GRCh38]
Chr2:149247758 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3930G>T (p.Val1310=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002211784] |
Chr2:148489562 [GRCh38]
Chr2:149247131 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2586A>C (p.Thr862=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002206037] |
Chr2:148483177 [GRCh38]
Chr2:149240746 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1941G>A (p.Lys647=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002095850] |
Chr2:148469884 [GRCh38]
Chr2:149227453 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3707G>T (p.Cys1236Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002172755] |
Chr2:148485904 [GRCh38]
Chr2:149243473 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.114-19T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002215847] |
Chr2:148462563 [GRCh38]
Chr2:149220132 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4464A>G (p.Pro1488=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002177028] |
Chr2:148490096 [GRCh38]
Chr2:149247665 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2163G>T (p.Pro721=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002203628] |
Chr2:148470106 [GRCh38]
Chr2:149227675 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2370C>A (p.Ser790Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002203629] |
Chr2:148470313 [GRCh38]
Chr2:149227882 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3753+18G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002198259] |
Chr2:148485968 [GRCh38]
Chr2:149243537 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2285A>G (p.His762Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002221137] |
Chr2:148470228 [GRCh38]
Chr2:149227797 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.3675C>G (p.Leu1225=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002118919] |
Chr2:148485872 [GRCh38]
Chr2:149243441 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1388C>A (p.Ser463Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002164706] |
Chr2:148469331 [GRCh38]
Chr2:149226900 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4170G>A (p.Arg1390=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002119346] |
Chr2:148489802 [GRCh38]
Chr2:149247371 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4161T>C (p.His1387=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002153920] |
Chr2:148489793 [GRCh38]
Chr2:149247362 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.295C>G (p.Leu99Val) |
single nucleotide variant |
Hypotonia [RCV002246200] |
Chr2:148463817 [GRCh38]
Chr2:149221386 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1818A>G (p.Gly606=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002156106] |
Chr2:148469761 [GRCh38]
Chr2:149227330 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.397+14T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002141302] |
Chr2:148463933 [GRCh38]
Chr2:149221502 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.549A>G (p.Val183=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002163385] |
Chr2:148468492 [GRCh38]
Chr2:149226061 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.114-3C>T |
single nucleotide variant |
not specified [RCV002247967] |
Chr2:148462579 [GRCh38]
Chr2:149220148 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3897T>C (p.Ser1299=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002160146] |
Chr2:148489529 [GRCh38]
Chr2:149247098 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3595C>T (p.Leu1199=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002084077] |
Chr2:148485792 [GRCh38]
Chr2:149243361 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_018328.5(MBD5):c.1851T>C (p.His617=) |
single nucleotide variant |
not provided [RCV002221841] |
|
uncertain significance |
| NM_001378120.1(MBD5):c.3927T>A (p.Val1309=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002142239] |
Chr2:148489559 [GRCh38]
Chr2:149247128 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2577A>G (p.Thr859=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002162794] |
Chr2:148483168 [GRCh38]
Chr2:149240737 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4634T>C (p.Leu1545Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003070671]|Intellectual disability, autosomal dominant 1 [RCV002155660] |
Chr2:148490266 [GRCh38]
Chr2:149247835 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.2271A>G (p.Glu757=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002098051] |
Chr2:148470214 [GRCh38]
Chr2:149227783 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4306C>T (p.Pro1436Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002156229] |
Chr2:148489938 [GRCh38]
Chr2:149247507 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1735T>C (p.Leu579=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002084096] |
Chr2:148469678 [GRCh38]
Chr2:149227247 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4347A>G (p.Leu1449=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002136165] |
Chr2:148489979 [GRCh38]
Chr2:149247548 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2595T>A (p.Leu865=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002141266] |
Chr2:148483186 [GRCh38]
Chr2:149240755 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4134T>G (p.His1378Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002219711] |
Chr2:148489766 [GRCh38]
Chr2:149247335 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1130A>G (p.Asn377Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002118706] |
Chr2:148469073 [GRCh38]
Chr2:149226642 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2519-17T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002082616] |
Chr2:148483093 [GRCh38]
Chr2:149240662 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2519-10_2519-9del |
deletion |
Intellectual disability, autosomal dominant 1 [RCV002136834] |
Chr2:148483089..148483090 [GRCh38]
Chr2:149240658..149240659 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.1128T>C (p.Ile376=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002101491] |
Chr2:148469071 [GRCh38]
Chr2:149226640 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.917A>G (p.Lys306Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002175220] |
Chr2:148468860 [GRCh38]
Chr2:149226429 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4596G>A (p.Arg1532=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002117513] |
Chr2:148490228 [GRCh38]
Chr2:149247797 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2553G>A (p.Ala851=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002103808] |
Chr2:148483144 [GRCh38]
Chr2:149240713 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2558C>A (p.Thr853Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002102204] |
Chr2:148483149 [GRCh38]
Chr2:149240718 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1828G>T (p.Gly610Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002181415] |
Chr2:148469771 [GRCh38]
Chr2:149227340 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4017T>C (p.Thr1339=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002183659] |
Chr2:148489649 [GRCh38]
Chr2:149247218 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2396C>G (p.Ser799Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002120417] |
Chr2:148470339 [GRCh38]
Chr2:149227908 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.397+10A>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002144218] |
Chr2:148463929 [GRCh38]
Chr2:149221498 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5025A>G (p.Lys1675=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002099094] |
Chr2:148502498 [GRCh38]
Chr2:149260067 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5154dup (p.Lys1719fs) |
duplication |
Intellectual disability, autosomal dominant 1 [RCV003110474]|not provided [RCV004798031] |
Chr2:148512905..148512906 [GRCh38]
Chr2:149270474..149270475 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3719A>G (p.Asn1240Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003110546] |
Chr2:148485916 [GRCh38]
Chr2:149243485 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2190G>T (p.Leu730Phe) |
single nucleotide variant |
not provided [RCV004776598] |
Chr2:148470133 [GRCh38]
Chr2:149227702 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.397+8A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003117065] |
Chr2:148463927 [GRCh38]
Chr2:149221496 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3714T>C (p.Ala1238=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003114888] |
Chr2:148485911 [GRCh38]
Chr2:149243480 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.179G>T (p.Cys60Phe) |
single nucleotide variant |
not provided [RCV004784835] |
Chr2:148462647 [GRCh38]
Chr2:149220216 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NC_000002.11:g.(?_149216328)_(149221508_?)dup |
duplication |
Intellectual disability, autosomal dominant 1 [RCV003119902] |
Chr2:149216328..149221508 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2545G>A (p.Ala849Thr) |
single nucleotide variant |
not provided [RCV003154146] |
Chr2:148483136 [GRCh38]
Chr2:149240705 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3809G>C (p.Gly1270Ala) |
single nucleotide variant |
not provided [RCV004777391] |
Chr2:148489441 [GRCh38]
Chr2:149247010 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1909G>T (p.Gly637Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003094185]|not provided [RCV002255057] |
Chr2:148469852 [GRCh38]
Chr2:149227421 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1001A>C (p.Gln334Pro) |
single nucleotide variant |
See cases [RCV002252892] |
Chr2:148468944 [GRCh38]
Chr2:149226513 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3169C>T (p.Pro1057Ser) |
single nucleotide variant |
not provided [RCV002263219] |
Chr2:148483760 [GRCh38]
Chr2:149241329 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.5147G>A (p.Arg1716Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003096294]|not provided [RCV002278925] |
Chr2:148512904 [GRCh38]
Chr2:149270473 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3629C>T (p.Pro1210Leu) |
single nucleotide variant |
not provided [RCV002290934] |
Chr2:148485826 [GRCh38]
Chr2:149243395 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2842G>A (p.Glu948Lys) |
single nucleotide variant |
not provided [RCV002274513] |
Chr2:148483433 [GRCh38]
Chr2:149241002 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.-557+104G>A |
single nucleotide variant |
not provided [RCV002275733] |
Chr2:148342440 [GRCh38]
Chr2:149100009 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.74_83del (p.Trp25fs) |
deletion |
Inborn genetic diseases [RCV002384886] |
Chr2:148458832..148458841 [GRCh38]
Chr2:149216401..149216410 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.4750A>C (p.Ser1584Arg) |
single nucleotide variant |
not provided [RCV002292118] |
Chr2:148490382 [GRCh38]
Chr2:149247951 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2330A>G (p.Asn777Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003095968]|not provided [RCV002263218] |
Chr2:148470273 [GRCh38]
Chr2:149227842 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002290138] |
Chr2:148458832 [GRCh38]
Chr2:149216401 [GRCh37]
Chr2:2q23.1 |
pathogenic|likely pathogenic |
| NM_001378120.1(MBD5):c.1087C>T (p.Pro363Ser) |
single nucleotide variant |
not provided [RCV002291973] |
Chr2:148469030 [GRCh38]
Chr2:149226599 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1023_1024delinsGA (p.Pro342Thr) |
indel |
Intellectual disability, autosomal dominant 1 [RCV002291183] |
Chr2:148468966..148468967 [GRCh38]
Chr2:149226535..149226536 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2012_2013del (p.Arg671fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV002289226] |
Chr2:148469954..148469955 [GRCh38]
Chr2:149227523..149227524 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.799C>T (p.His267Tyr) |
single nucleotide variant |
not provided [RCV002281333] |
Chr2:148468742 [GRCh38]
Chr2:149226311 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4616G>A (p.Ser1539Asn) |
single nucleotide variant |
not provided [RCV003236201] |
Chr2:148490248 [GRCh38]
Chr2:149247817 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4229A>G (p.Asn1410Ser) |
single nucleotide variant |
not provided [RCV002267216] |
Chr2:148489861 [GRCh38]
Chr2:149247430 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3753+3A>G |
single nucleotide variant |
not provided [RCV002293622] |
Chr2:148485953 [GRCh38]
Chr2:149243522 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.728C>T (p.Pro243Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002297421] |
Chr2:148468671 [GRCh38]
Chr2:149226240 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2297C>G (p.Thr766Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002297447] |
Chr2:148470240 [GRCh38]
Chr2:149227809 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2350A>G (p.Ile784Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002297693] |
Chr2:148470293 [GRCh38]
Chr2:149227862 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2630A>G (p.Asn877Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002452931] |
Chr2:148483221 [GRCh38]
Chr2:149240790 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5182T>A (p.Ter1728Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003097690]|not provided [RCV002285725] |
Chr2:148512939 [GRCh38]
Chr2:149270508 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.14_15del (p.Lys5fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV002283952] |
Chr2:148458771..148458772 [GRCh38]
Chr2:149216340..149216341 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1237A>G (p.Lys413Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002367328]|Intellectual disability, autosomal dominant 1 [RCV003103362] |
Chr2:148469180 [GRCh38]
Chr2:149226749 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4360C>T (p.His1454Tyr) |
single nucleotide variant |
not provided [RCV003152093] |
Chr2:148489992 [GRCh38]
Chr2:149247561 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2692C>T (p.Leu898Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002571511]|not provided [RCV002474232] |
Chr2:148483283 [GRCh38]
Chr2:149240852 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4073C>T (p.Ala1358Val) |
single nucleotide variant |
not provided [RCV002475029] |
Chr2:148489705 [GRCh38]
Chr2:149247274 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1756G>A (p.Ala586Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002466345] |
Chr2:148469699 [GRCh38]
Chr2:149227268 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.3864A>C (p.Thr1288=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002858568] |
Chr2:148489496 [GRCh38]
Chr2:149247065 [GRCh37]
Chr2:2q23.1 |
likely benign |
| GRCh37/hg19 2q23.1(chr2:148932571-148969209)x1 |
copy number loss |
not provided [RCV002473833] |
Chr2:148932571..148969209 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2153A>G (p.Asn718Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002510685] |
Chr2:148470096 [GRCh38]
Chr2:149227665 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.814C>T (p.Pro272Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002573588]|not provided [RCV002467162] |
Chr2:148468757 [GRCh38]
Chr2:149226326 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148825739-148914178)x1 |
copy number loss |
not provided [RCV002474893] |
Chr2:148825739..148914178 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2296A>G (p.Thr766Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002303026] |
Chr2:148470239 [GRCh38]
Chr2:149227808 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.397+2T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002468744] |
Chr2:148463921 [GRCh38]
Chr2:149221490 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1702C>G (p.Gln568Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002304159] |
Chr2:148469645 [GRCh38]
Chr2:149227214 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.64C>T (p.Pro22Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002304607] |
Chr2:148458822 [GRCh38]
Chr2:149216391 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4277C>A (p.Ser1426Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002304824] |
Chr2:148489909 [GRCh38]
Chr2:149247478 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4160A>G (p.His1387Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003131555] |
Chr2:148489792 [GRCh38]
Chr2:149247361 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3985G>A (p.Ala1329Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002305414] |
Chr2:148489617 [GRCh38]
Chr2:149247186 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.937C>A (p.Pro313Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002371743]|Intellectual disability, autosomal dominant 1 [RCV003774176] |
Chr2:148468880 [GRCh38]
Chr2:149226449 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4819G>T (p.Glu1607Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002323514] |
Chr2:148490451 [GRCh38]
Chr2:149248020 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.4682C>A (p.Ser1561Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002296769]|not provided [RCV003319516] |
Chr2:148490314 [GRCh38]
Chr2:149247883 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.16G>C (p.Glu6Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002302316] |
Chr2:148458774 [GRCh38]
Chr2:149216343 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4842G>T (p.Arg1614Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002333164] |
Chr2:148490474 [GRCh38]
Chr2:149248043 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2336A>G (p.His779Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002448232]|not provided [RCV004765515] |
Chr2:148470279 [GRCh38]
Chr2:149227848 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1252A>T (p.Asn418Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002412288]|not provided [RCV003319522] |
Chr2:148469195 [GRCh38]
Chr2:149226764 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3791G>C (p.Arg1264Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002296772] |
Chr2:148489423 [GRCh38]
Chr2:149246992 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.912T>A (p.Thr304=) |
single nucleotide variant |
Inborn genetic diseases [RCV002378739]|Intellectual disability, autosomal dominant 1 [RCV005097312] |
Chr2:148468855 [GRCh38]
Chr2:149226424 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1609A>G (p.Ser537Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002400891]|Intellectual disability, autosomal dominant 1 [RCV003096999] |
Chr2:148469552 [GRCh38]
Chr2:149227121 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2861A>G (p.Asn954Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002681286] |
Chr2:148483452 [GRCh38]
Chr2:149241021 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.114-9T>G |
single nucleotide variant |
not provided [RCV002511237] |
Chr2:148462573 [GRCh38]
Chr2:149220142 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4966G>C (p.Glu1656Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002686046] |
Chr2:148502439 [GRCh38]
Chr2:149260008 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3145C>A (p.Leu1049Ile) |
single nucleotide variant |
not provided [RCV002511985] |
Chr2:148483736 [GRCh38]
Chr2:149241305 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1170T>C (p.Pro390=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002971196] |
Chr2:148469113 [GRCh38]
Chr2:149226682 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4372A>G (p.Ser1458Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003032782] |
Chr2:148490004 [GRCh38]
Chr2:149247573 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1023A>C (p.Pro341=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002880722] |
Chr2:148468966 [GRCh38]
Chr2:149226535 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4722T>C (p.Asn1574=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002861983] |
Chr2:148490354 [GRCh38]
Chr2:149247923 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2093T>C (p.Ile698Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002840196] |
Chr2:148470036 [GRCh38]
Chr2:149227605 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5073T>A (p.Ile1691=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003015430] |
Chr2:148510096 [GRCh38]
Chr2:149267665 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2526A>G (p.Ser842=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002843674] |
Chr2:148483117 [GRCh38]
Chr2:149240686 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.629A>G (p.Gln210Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003016817] |
Chr2:148468572 [GRCh38]
Chr2:149226141 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3679G>A (p.Ala1227Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002902930] |
Chr2:148485876 [GRCh38]
Chr2:149243445 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1453G>A (p.Gly485Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003033371] |
Chr2:148469396 [GRCh38]
Chr2:149226965 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2376C>T (p.Asn792=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002756712] |
Chr2:148470319 [GRCh38]
Chr2:149227888 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5181A>G (p.Arg1727=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002862045] |
Chr2:148512938 [GRCh38]
Chr2:149270507 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1402G>C (p.Asp468His) |
single nucleotide variant |
Inborn genetic diseases [RCV002817662] |
Chr2:148469345 [GRCh38]
Chr2:149226914 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1910G>A (p.Gly637Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002838302] |
Chr2:148469853 [GRCh38]
Chr2:149227422 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2388C>T (p.Leu796=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002861578] |
Chr2:148470331 [GRCh38]
Chr2:149227900 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4878C>T (p.Ile1626=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002616394] |
Chr2:148490510 [GRCh38]
Chr2:149248079 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4441C>T (p.Leu1481=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002904825] |
Chr2:148490073 [GRCh38]
Chr2:149247642 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.503T>C (p.Phe168Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002971667] |
Chr2:148468446 [GRCh38]
Chr2:149226015 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4709A>G (p.Asn1570Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002617574] |
Chr2:148490341 [GRCh38]
Chr2:149247910 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.754del (p.Arg252fs) |
deletion |
not provided [RCV002511984] |
Chr2:148468696 [GRCh38]
Chr2:149226265 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.199C>T (p.Pro67Ser) |
single nucleotide variant |
not provided [RCV002461772] |
Chr2:148462667 [GRCh38]
Chr2:149220236 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.825A>G (p.Pro275=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002882178] |
Chr2:148468768 [GRCh38]
Chr2:149226337 [GRCh37]
Chr2:2q23.1 |
likely benign |
| GRCh37/hg19 2q23.1(chr2:148893783-149050963)x1 |
copy number loss |
not provided [RCV002475665] |
Chr2:148893783..149050963 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5140C>A (p.Gln1714Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002819183] |
Chr2:148512897 [GRCh38]
Chr2:149270466 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1671G>C (p.Leu557Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004642046]|Intellectual disability, autosomal dominant 1 [RCV002819696] |
Chr2:148469614 [GRCh38]
Chr2:149227183 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1835_1837delinsTCT (p.Gly612_Asn613delinsValTyr) |
indel |
not provided [RCV002511494] |
Chr2:148469778..148469780 [GRCh38]
Chr2:149227347..149227349 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2038G>A (p.Val680Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002996499] |
Chr2:148469981 [GRCh38]
Chr2:149227550 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148954841-149100457)x3 |
copy number gain |
not provided [RCV002475571] |
Chr2:148954841..149100457 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4230C>T (p.Asn1410=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003076145] |
Chr2:148489862 [GRCh38]
Chr2:149247431 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3881C>A (p.Pro1294Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002914209] |
Chr2:148489513 [GRCh38]
Chr2:149247082 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.696T>C (p.Tyr232=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002866500] |
Chr2:148468639 [GRCh38]
Chr2:149226208 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5036+8del |
deletion |
Intellectual disability, autosomal dominant 1 [RCV002800368] |
Chr2:148502517 [GRCh38]
Chr2:149260086 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1240C>A (p.Pro414Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003036139] |
Chr2:148469183 [GRCh38]
Chr2:149226752 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_018328.4:c.-925+35305_-557+13791del |
deletion |
Intellectual disability, autosomal dominant 1 [RCV002509900] |
|
uncertain significance |
| NM_001378120.1(MBD5):c.133T>A (p.Ser45Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002623002] |
Chr2:148462601 [GRCh38]
Chr2:149220170 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.416C>G (p.Pro139Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003036195] |
Chr2:148468359 [GRCh38]
Chr2:149225928 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1706A>G (p.His569Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002868004] |
Chr2:148469649 [GRCh38]
Chr2:149227218 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5113-18C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003077370] |
Chr2:148512852 [GRCh38]
Chr2:149270421 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1255C>T (p.His419Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003077803] |
Chr2:148469198 [GRCh38]
Chr2:149226767 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4765_4766insGGCACACACA (p.Lys1589fs) |
insertion |
Intellectual disability, autosomal dominant 1 [RCV003018741] |
Chr2:148490396..148490397 [GRCh38]
Chr2:149247965..149247966 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2219C>G (p.Thr740Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002783646] |
Chr2:148470162 [GRCh38]
Chr2:149227731 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1862A>T (p.Asn621Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002658504] |
Chr2:148469805 [GRCh38]
Chr2:149227374 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.162G>C (p.Leu54=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002912480] |
Chr2:148462630 [GRCh38]
Chr2:149220199 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2596C>G (p.Gln866Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003054683] |
Chr2:148483187 [GRCh38]
Chr2:149240756 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1356G>A (p.Arg452=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002637489] |
Chr2:148469299 [GRCh38]
Chr2:149226868 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4657A>G (p.Ser1553Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002783489] |
Chr2:148490289 [GRCh38]
Chr2:149247858 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4483G>A (p.Glu1495Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002637849]|MBD5-related disorder [RCV003898894] |
Chr2:148490115 [GRCh38]
Chr2:149247684 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4704_4728dup (p.Ser1577delinsLeuGlnTrpArgLeuTer) |
duplication |
Intellectual disability, autosomal dominant 1 [RCV002824389] |
Chr2:148490334..148490335 [GRCh38]
Chr2:149247903..149247904 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.433C>G (p.Pro145Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002925976] |
Chr2:148468376 [GRCh38]
Chr2:149225945 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2453C>T (p.Thr818Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002953152] |
Chr2:148470396 [GRCh38]
Chr2:149227965 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1151A>G (p.Asn384Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003036607] |
Chr2:148469094 [GRCh38]
Chr2:149226663 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1975A>G (p.Arg659Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003079550] |
Chr2:148469918 [GRCh38]
Chr2:149227487 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3579C>A (p.Asn1193Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002998662] |
Chr2:148485776 [GRCh38]
Chr2:149243345 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4151G>A (p.Gly1384Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002569850] |
Chr2:148489783 [GRCh38]
Chr2:149247352 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4209A>G (p.Leu1403=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002846661] |
Chr2:148489841 [GRCh38]
Chr2:149247410 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2762C>G (p.Ser921Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002706405] |
Chr2:148483353 [GRCh38]
Chr2:149240922 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4446A>G (p.Leu1482=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002795408] |
Chr2:148490078 [GRCh38]
Chr2:149247647 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3590C>A (p.Thr1197Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002909577] |
Chr2:148485787 [GRCh38]
Chr2:149243356 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1042A>G (p.Lys348Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003055302] |
Chr2:148468985 [GRCh38]
Chr2:149226554 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1441G>C (p.Ala481Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002824002] |
Chr2:148469384 [GRCh38]
Chr2:149226953 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3636T>C (p.Asn1212=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002575135] |
Chr2:148485833 [GRCh38]
Chr2:149243402 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4396A>C (p.Asn1466His) |
single nucleotide variant |
Inborn genetic diseases [RCV002804268] |
Chr2:148490028 [GRCh38]
Chr2:149247597 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.719G>T (p.Arg240Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002763437] |
Chr2:148468662 [GRCh38]
Chr2:149226231 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1041G>A (p.Gln347=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002623604] |
Chr2:148468984 [GRCh38]
Chr2:149226553 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.759T>G (p.Ser253Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002985367] |
Chr2:148468702 [GRCh38]
Chr2:149226271 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3598del (p.Gln1200fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV002852610] |
Chr2:148485795 [GRCh38]
Chr2:149243364 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.32A>G (p.Asp11Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004983165]|Intellectual disability, autosomal dominant 1 [RCV002894987] |
Chr2:148458790 [GRCh38]
Chr2:149216359 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1676G>A (p.Gly559Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003008182] |
Chr2:148469619 [GRCh38]
Chr2:149227188 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1987C>A (p.Pro663Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002666775] |
Chr2:148469930 [GRCh38]
Chr2:149227499 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2518+7T>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002852296] |
Chr2:148470468 [GRCh38]
Chr2:149228037 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4868G>A (p.Trp1623Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003022353] |
Chr2:148490500 [GRCh38]
Chr2:149248069 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2164G>C (p.Gly722Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002828953] |
Chr2:148470107 [GRCh38]
Chr2:149227676 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2859C>A (p.Ile953=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002664216] |
Chr2:148483450 [GRCh38]
Chr2:149241019 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.3974T>A (p.Val1325Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003040440] |
Chr2:148489606 [GRCh38]
Chr2:149247175 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.521C>T (p.Ser174Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002700244] |
Chr2:148468464 [GRCh38]
Chr2:149226033 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5050A>T (p.Asn1684Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002828139] |
Chr2:148510073 [GRCh38]
Chr2:149267642 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.113+8C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003040821] |
Chr2:148458879 [GRCh38]
Chr2:149216448 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1637C>A (p.Ala546Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002623962] |
Chr2:148469580 [GRCh38]
Chr2:149227149 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1413T>C (p.Asn471=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003007791] |
Chr2:148469356 [GRCh38]
Chr2:149226925 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2646G>A (p.Gln882=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003057046] |
Chr2:148483237 [GRCh38]
Chr2:149240806 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.971C>G (p.Pro324Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002890128] |
Chr2:148468914 [GRCh38]
Chr2:149226483 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2038G>T (p.Val680Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002596181] |
Chr2:148469981 [GRCh38]
Chr2:149227550 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5049A>C (p.Leu1683=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002596321] |
Chr2:148510072 [GRCh38]
Chr2:149267641 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.577G>C (p.Glu193Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003085489] |
Chr2:148468520 [GRCh38]
Chr2:149226089 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2598A>G (p.Gln866=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002741709] |
Chr2:148483189 [GRCh38]
Chr2:149240758 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3917A>T (p.Asp1306Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003041345]|not provided [RCV004765642] |
Chr2:148489549 [GRCh38]
Chr2:149247118 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5021G>C (p.Arg1674Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002667139]|not provided [RCV004765547] |
Chr2:148502494 [GRCh38]
Chr2:149260063 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.398-18T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002928980] |
Chr2:148468323 [GRCh38]
Chr2:149225892 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2025G>C (p.Met675Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002985605] |
Chr2:148469968 [GRCh38]
Chr2:149227537 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4183A>C (p.Arg1395=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002852977] |
Chr2:148489815 [GRCh38]
Chr2:149247384 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1859T>C (p.Leu620Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002915842]|Intellectual disability, autosomal dominant 1 [RCV003600447] |
Chr2:148469802 [GRCh38]
Chr2:149227371 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5104_5107del (p.Ser1702fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV002876214] |
Chr2:148510125..148510128 [GRCh38]
Chr2:149267694..149267697 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1697T>G (p.Leu566Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003057437] |
Chr2:148469640 [GRCh38]
Chr2:149227209 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4471A>G (p.Lys1491Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002623941]|Intellectual disability, autosomal dominant 1 [RCV002607950] |
Chr2:148490103 [GRCh38]
Chr2:149247672 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1250T>G (p.Met417Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003030672] |
Chr2:148469193 [GRCh38]
Chr2:149226762 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.2519-10T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003091951] |
Chr2:148483100 [GRCh38]
Chr2:149240669 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4122T>A (p.Ser1374Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002627622] |
Chr2:148489754 [GRCh38]
Chr2:149247323 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.623A>G (p.His208Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002632862] |
Chr2:148468566 [GRCh38]
Chr2:149226135 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.244G>T (p.Val82Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003048232] |
Chr2:148463766 [GRCh38]
Chr2:149221335 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.942G>A (p.Met314Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002967192] |
Chr2:148468885 [GRCh38]
Chr2:149226454 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2359A>T (p.Ile787Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003009505] |
Chr2:148470302 [GRCh38]
Chr2:149227871 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1928C>T (p.Ala643Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002920668] |
Chr2:148469871 [GRCh38]
Chr2:149227440 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3737T>C (p.Leu1246Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002805999] |
Chr2:148485934 [GRCh38]
Chr2:149243503 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3558A>C (p.Ser1186=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002671049] |
Chr2:148485755 [GRCh38]
Chr2:149243324 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4880A>G (p.Lys1627Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003008509] |
Chr2:148490512 [GRCh38]
Chr2:149248081 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.253A>C (p.Arg85=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002857083] |
Chr2:148463775 [GRCh38]
Chr2:149221344 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2839G>A (p.Gly947Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003027833] |
Chr2:148483430 [GRCh38]
Chr2:149240999 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4523G>A (p.Ser1508Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003010344] |
Chr2:148490155 [GRCh38]
Chr2:149247724 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2147G>A (p.Ser716Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003087462]|not specified [RCV004700940] |
Chr2:148470090 [GRCh38]
Chr2:149227659 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2738C>T (p.Pro913Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003027697] |
Chr2:148483329 [GRCh38]
Chr2:149240898 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2086T>C (p.Phe696Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002717178] |
Chr2:148470029 [GRCh38]
Chr2:149227598 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2519-16T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002877390] |
Chr2:148483094 [GRCh38]
Chr2:149240663 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5103_5104del (p.Met1701fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV002834992] |
Chr2:148510125..148510126 [GRCh38]
Chr2:149267694..149267695 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1443C>T (p.Ala481=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002576779] |
Chr2:148469386 [GRCh38]
Chr2:149226955 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3657C>T (p.Leu1219=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002792013] |
Chr2:148485854 [GRCh38]
Chr2:149243423 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.18G>A (p.Glu6=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002628009] |
Chr2:148458776 [GRCh38]
Chr2:149216345 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4645G>A (p.Glu1549Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002938495] |
Chr2:148490277 [GRCh38]
Chr2:149247846 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1520G>A (p.Ser507Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002746102] |
Chr2:148469463 [GRCh38]
Chr2:149227032 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2003G>A (p.Ser668Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003045462] |
Chr2:148469946 [GRCh38]
Chr2:149227515 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.40G>A (p.Gly14Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002717866] |
Chr2:148458798 [GRCh38]
Chr2:149216367 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.880A>G (p.Arg294Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002835666] |
Chr2:148468823 [GRCh38]
Chr2:149226392 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4027A>G (p.Ser1343Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002920710] |
Chr2:148489659 [GRCh38]
Chr2:149247228 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4096C>T (p.Pro1366Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003028536] |
Chr2:148489728 [GRCh38]
Chr2:149247297 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2686C>A (p.His896Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003065182]|not specified [RCV003994491] |
Chr2:148483277 [GRCh38]
Chr2:149240846 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.114-20T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003062449] |
Chr2:148462562 [GRCh38]
Chr2:149220131 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2527G>A (p.Gly843Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003048333] |
Chr2:148483118 [GRCh38]
Chr2:149240687 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1695C>G (p.Ile565Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002720287] |
Chr2:148469638 [GRCh38]
Chr2:149227207 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3567T>C (p.Asn1189=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002856268] |
Chr2:148485764 [GRCh38]
Chr2:149243333 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.651C>G (p.Ser217Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003087896] |
Chr2:148468594 [GRCh38]
Chr2:149226163 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2124_2125delinsTT (p.Met708_Ser709delinsIleCys) |
indel |
Intellectual disability, autosomal dominant 1 [RCV002898560] |
Chr2:148470067..148470068 [GRCh38]
Chr2:149227636..149227637 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2856G>A (p.Glu952=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002670883] |
Chr2:148483447 [GRCh38]
Chr2:149241016 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2824C>T (p.Leu942Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002633881] |
Chr2:148483415 [GRCh38]
Chr2:149240984 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.857A>G (p.Gln286Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002653309] |
Chr2:148468800 [GRCh38]
Chr2:149226369 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1963G>T (p.Ala655Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002633880] |
Chr2:148469906 [GRCh38]
Chr2:149227475 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4336G>A (p.Glu1446Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002608391] |
Chr2:148489968 [GRCh38]
Chr2:149247537 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2546C>T (p.Ala849Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003066114] |
Chr2:148483137 [GRCh38]
Chr2:149240706 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1150A>G (p.Asn384Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003073346] |
Chr2:148469093 [GRCh38]
Chr2:149226662 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.779C>A (p.Ala260Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002583931] |
Chr2:148468722 [GRCh38]
Chr2:149226291 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.443T>C (p.Val148Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002607106] |
Chr2:148468386 [GRCh38]
Chr2:149225955 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.603G>A (p.Gln201=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002607107] |
Chr2:148468546 [GRCh38]
Chr2:149226115 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2268G>A (p.Gly756=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003066162] |
Chr2:148470211 [GRCh38]
Chr2:149227780 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.742G>A (p.Asp248Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002583411] |
Chr2:148468685 [GRCh38]
Chr2:149226254 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.540G>C (p.Arg180Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002588372] |
Chr2:148468483 [GRCh38]
Chr2:149226052 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2172G>A (p.Gly724=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV002585836] |
Chr2:148470115 [GRCh38]
Chr2:149227684 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3718A>G (p.Asn1240Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003132605] |
Chr2:148485915 [GRCh38]
Chr2:149243484 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4439T>C (p.Ile1480Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003132606] |
Chr2:148490071 [GRCh38]
Chr2:149247640 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2414A>T (p.Asn805Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003132607] |
Chr2:148470357 [GRCh38]
Chr2:149227926 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4387A>T (p.Arg1463Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003132608] |
Chr2:148490019 [GRCh38]
Chr2:149247588 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2305G>A (p.Val769Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004246019]|Intellectual disability, autosomal dominant 1 [RCV003131556]|MBD5-related disorder [RCV003420567] |
Chr2:148470248 [GRCh38]
Chr2:149227817 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4132C>G (p.His1378Asp) |
single nucleotide variant |
not provided [RCV004781327] |
Chr2:148489764 [GRCh38]
Chr2:149247333 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.726C>A (p.Asp242Glu) |
single nucleotide variant |
not provided [RCV004794969] |
Chr2:148468669 [GRCh38]
Chr2:149226238 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NC_000002.11:g.(148779254_148936268)_(149099906_149215771)del |
deletion |
not specified [RCV004699707] |
Chr2:148936268..149099906 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4124C>A (p.Ala1375Glu) |
single nucleotide variant |
not provided [RCV003223042] |
Chr2:148489756 [GRCh38]
Chr2:149247325 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1831A>C (p.Ser611Arg) |
single nucleotide variant |
not provided [RCV003159364] |
Chr2:148469774 [GRCh38]
Chr2:149227343 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.853G>A (p.Val285Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003302374]|not specified [RCV003479511] |
Chr2:148468796 [GRCh38]
Chr2:149226365 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.4408C>G (p.Leu1470Val) |
single nucleotide variant |
not provided [RCV003159382] |
Chr2:148490040 [GRCh38]
Chr2:149247609 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.523T>C (p.Ser175Pro) |
single nucleotide variant |
not provided [RCV003229263] |
Chr2:148468466 [GRCh38]
Chr2:149226035 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3731C>T (p.Ala1244Val) |
single nucleotide variant |
not provided [RCV003223041] |
Chr2:148485928 [GRCh38]
Chr2:149243497 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3545G>A (p.Gly1182Asp) |
single nucleotide variant |
not provided [RCV003229182] |
Chr2:148485742 [GRCh38]
Chr2:149243311 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1855A>G (p.Thr619Ala) |
single nucleotide variant |
not provided [RCV003322222] |
Chr2:148469798 [GRCh38]
Chr2:149227367 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4873C>A (p.Gln1625Lys) |
single nucleotide variant |
not provided [RCV003325159] |
Chr2:148490505 [GRCh38]
Chr2:149248074 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5009A>G (p.Tyr1670Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003261852] |
Chr2:148502482 [GRCh38]
Chr2:149260051 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1628C>T (p.Thr543Ile) |
single nucleotide variant |
not provided [RCV003319647] |
Chr2:148469571 [GRCh38]
Chr2:149227140 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.4824G>C (p.Leu1608Phe) |
single nucleotide variant |
not provided [RCV003318769] |
Chr2:148490456 [GRCh38]
Chr2:149248025 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1276G>C (p.Val426Leu) |
single nucleotide variant |
not provided [RCV003318875] |
Chr2:148469219 [GRCh38]
Chr2:149226788 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1281G>T (p.Gln427His) |
single nucleotide variant |
not provided [RCV003329983] |
Chr2:148469224 [GRCh38]
Chr2:149226793 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.172G>A (p.Gly58Arg) |
single nucleotide variant |
not provided [RCV003328866] |
Chr2:148462640 [GRCh38]
Chr2:149220209 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1241C>T (p.Pro414Leu) |
single nucleotide variant |
not provided [RCV003327042] |
Chr2:148469184 [GRCh38]
Chr2:149226753 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5151C>T (p.Pro1717=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600455]|not provided [RCV003327044] |
Chr2:148512908 [GRCh38]
Chr2:149270477 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3552G>A (p.Met1184Ile) |
single nucleotide variant |
not provided [RCV003329948] |
Chr2:148485749 [GRCh38]
Chr2:149243318 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1171A>C (p.Met391Leu) |
single nucleotide variant |
not provided [RCV003328872] |
Chr2:148469114 [GRCh38]
Chr2:149226683 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3288G>A (p.Ser1096=) |
single nucleotide variant |
not provided [RCV003327043] |
Chr2:148483879 [GRCh38]
Chr2:149241448 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.316_319dup (p.Ile107fs) |
duplication |
Intellectual disability, autosomal dominant 1 [RCV003340906] |
Chr2:148463836..148463837 [GRCh38]
Chr2:149221405..149221406 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.2312G>A (p.Ser771Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003342965]|Intellectual disability, autosomal dominant 1 [RCV005104096] |
Chr2:148470255 [GRCh38]
Chr2:149227824 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.991A>G (p.Lys331Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003383191] |
Chr2:148468934 [GRCh38]
Chr2:149226503 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.-1112_-1111insGTT |
insertion |
not provided [RCV003436190] |
Chr2:148021496..148021497 [GRCh38]
Chr2:148779065..148779066 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.3043C>A (p.Leu1015Ile) |
single nucleotide variant |
not provided [RCV003457300] |
Chr2:148483634 [GRCh38]
Chr2:149241203 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2837C>A (p.Ala946Glu) |
single nucleotide variant |
not provided [RCV003429295] |
Chr2:148483428 [GRCh38]
Chr2:149240997 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.464G>T (p.Gly155Val) |
single nucleotide variant |
not provided [RCV003443962] |
Chr2:148468407 [GRCh38]
Chr2:149225976 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.-1114GCTACTGCTGCTGCT[1] |
microsatellite |
not provided [RCV003429292] |
Chr2:148021484..148021498 [GRCh38]
Chr2:148779053..148779067 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.-1114GCTACTGCTGCTGCT[3] |
microsatellite |
not provided [RCV003429291] |
Chr2:148021483..148021484 [GRCh38]
Chr2:148779052..148779053 [GRCh37]
Chr2:2q23.1 |
benign|likely benign |
| NM_001378120.1(MBD5):c.921T>G (p.Ser307Arg) |
single nucleotide variant |
MBD5-related disorder [RCV003391467] |
Chr2:148468864 [GRCh38]
Chr2:149226433 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:149059294-149118330)x1 |
copy number loss |
not provided [RCV003485083] |
Chr2:149059294..149118330 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.606A>G (p.Arg202=) |
single nucleotide variant |
not provided [RCV003436191] |
Chr2:148468549 [GRCh38]
Chr2:149226118 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2979T>C (p.Leu993=) |
single nucleotide variant |
not provided [RCV003436197] |
Chr2:148483570 [GRCh38]
Chr2:149241139 [GRCh37]
Chr2:2q23.1 |
likely benign |
| GRCh37/hg19 2q23.1(chr2:148862629-148922187)x1 |
copy number loss |
not provided [RCV003485072] |
Chr2:148862629..148922187 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2674G>C (p.Val892Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005100289]|not provided [RCV003481615] |
Chr2:148483265 [GRCh38]
Chr2:149240834 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148851964-148954778)x1 |
copy number loss |
not provided [RCV003485061] |
Chr2:148851964..148954778 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q22.3-23.3(chr2:148406827-152954124)x1 |
copy number loss |
not provided [RCV003485050] |
Chr2:148406827..152954124 [GRCh37]
Chr2:2q22.3-23.3 |
pathogenic |
| NM_001378120.1(MBD5):c.1291T>C (p.Ser431Pro) |
single nucleotide variant |
not provided [RCV003436195] |
Chr2:148469234 [GRCh38]
Chr2:149226803 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1336A>G (p.Met446Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003778206]|MBD5-related disorder [RCV003414326]|not provided [RCV003443214] |
Chr2:148469279 [GRCh38]
Chr2:149226848 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.665C>T (p.Pro222Leu) |
single nucleotide variant |
MBD5-related disorder [RCV003405788] |
Chr2:148468608 [GRCh38]
Chr2:149226177 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.923C>T (p.Pro308Leu) |
single nucleotide variant |
not provided [RCV003436192] |
Chr2:148468866 [GRCh38]
Chr2:149226435 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4946del (p.Ser1649fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV003389030] |
Chr2:148490578 [GRCh38]
Chr2:149248147 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| GRCh38/hg38 2q23.1(chr2:148120444-148180182) |
copy number loss |
Intellectual disability, autosomal dominant 1 [RCV003448622] |
Chr2:148120444..148180182 [GRCh38]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3036C>T (p.Ile1012=) |
single nucleotide variant |
not provided [RCV003436198] |
Chr2:148483627 [GRCh38]
Chr2:149241196 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3865C>T (p.Pro1289Ser) |
single nucleotide variant |
not provided [RCV003436200] |
Chr2:148489497 [GRCh38]
Chr2:149247066 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1027T>C (p.Ser343Pro) |
single nucleotide variant |
not provided [RCV003429293] |
Chr2:148468970 [GRCh38]
Chr2:149226539 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2625T>C (p.Ala875=) |
single nucleotide variant |
not provided [RCV003429294] |
Chr2:148483216 [GRCh38]
Chr2:149240785 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.266A>G (p.Asp89Gly) |
single nucleotide variant |
not provided [RCV003442422] |
Chr2:148463788 [GRCh38]
Chr2:149221357 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.997C>T (p.Pro333Ser) |
single nucleotide variant |
not provided [RCV003436193] |
Chr2:148468940 [GRCh38]
Chr2:149226509 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1016C>A (p.Pro339His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003778408]|not provided [RCV003436194] |
Chr2:148468959 [GRCh38]
Chr2:149226528 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1966T>A (p.Leu656Met) |
single nucleotide variant |
not provided [RCV003436196] |
Chr2:148469909 [GRCh38]
Chr2:149227478 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4755T>C (p.Pro1585=) |
single nucleotide variant |
not provided [RCV003436201] |
Chr2:148490387 [GRCh38]
Chr2:149247956 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.947A>C (p.Asn316Thr) |
single nucleotide variant |
not provided [RCV004585879] |
Chr2:148468890 [GRCh38]
Chr2:149226459 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.893C>T (p.Pro298Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003778264]|MBD5-related disorder [RCV003400155] |
Chr2:148468836 [GRCh38]
Chr2:149226405 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.490T>C (p.Cys164Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600461]|MBD5-related disorder [RCV003397691] |
Chr2:148468433 [GRCh38]
Chr2:149226002 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2081G>A (p.Gly694Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600460]|MBD5-related disorder [RCV003416763] |
Chr2:148470024 [GRCh38]
Chr2:149227593 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4274C>T (p.Thr1425Ile) |
single nucleotide variant |
MBD5-related disorder [RCV003402110] |
Chr2:148489906 [GRCh38]
Chr2:149247475 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1627A>G (p.Thr543Ala) |
single nucleotide variant |
MBD5-related disorder [RCV003402559] |
Chr2:148469570 [GRCh38]
Chr2:149227139 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_018328.5:c.(-925+1_-924-1)_(-831+1_-830-1)del |
deletion |
not specified [RCV003404742] |
|
uncertain significance |
| NM_001378120.1(MBD5):c.3231T>C (p.Asn1077=) |
single nucleotide variant |
not provided [RCV003436199] |
Chr2:148483822 [GRCh38]
Chr2:149241391 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.1504C>T (p.Pro502Ser) |
single nucleotide variant |
not specified [RCV003405084] |
Chr2:148469447 [GRCh38]
Chr2:149227016 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.236G>T (p.Gly79Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602310] |
Chr2:148463758 [GRCh38]
Chr2:149221327 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4996G>A (p.Gly1666Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601627] |
Chr2:148502469 [GRCh38]
Chr2:149260038 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.695A>G (p.Tyr232Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003877698] |
Chr2:148468638 [GRCh38]
Chr2:149226207 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4247A>C (p.Glu1416Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495805] |
Chr2:148489879 [GRCh38]
Chr2:149247448 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1294A>G (p.Thr432Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601395] |
Chr2:148469237 [GRCh38]
Chr2:149226806 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1053A>G (p.Leu351=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602408] |
Chr2:148468996 [GRCh38]
Chr2:149226565 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.308A>G (p.Lys103Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600518] |
Chr2:148463830 [GRCh38]
Chr2:149221399 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5113-16A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601777] |
Chr2:148512854 [GRCh38]
Chr2:149270423 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5175C>G (p.Ile1725Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601801] |
Chr2:148512932 [GRCh38]
Chr2:149270501 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.113+9TTA[2] |
microsatellite |
Intellectual disability, autosomal dominant 1 [RCV003495921] |
Chr2:148458880..148458882 [GRCh38]
Chr2:149216449..149216451 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5109G>A (p.Gly1703=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600095] |
Chr2:148510132 [GRCh38]
Chr2:149267701 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1773A>G (p.Gln591=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600150] |
Chr2:148469716 [GRCh38]
Chr2:149227285 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4185A>C (p.Arg1395Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602226] |
Chr2:148489817 [GRCh38]
Chr2:149247386 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.113+9T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003828454] |
Chr2:148458880 [GRCh38]
Chr2:149216449 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1168C>T (p.Pro390Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602437] |
Chr2:148469111 [GRCh38]
Chr2:149226680 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3624G>A (p.Met1208Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601671] |
Chr2:148485821 [GRCh38]
Chr2:149243390 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2462C>T (p.Thr821Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600767] |
Chr2:148470405 [GRCh38]
Chr2:149227974 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4644G>A (p.Glu1548=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600913] |
Chr2:148490276 [GRCh38]
Chr2:149247845 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2381G>T (p.Gly794Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602084] |
Chr2:148470324 [GRCh38]
Chr2:149227893 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.568CAA[2] (p.Gln192del) |
microsatellite |
Intellectual disability, autosomal dominant 1 [RCV003496280] |
Chr2:148468511..148468513 [GRCh38]
Chr2:149226080..149226082 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2814A>G (p.Leu938=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601837] |
Chr2:148483405 [GRCh38]
Chr2:149240974 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.524C>T (p.Ser175Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600927] |
Chr2:148468467 [GRCh38]
Chr2:149226036 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.398-5A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601919] |
Chr2:148468336 [GRCh38]
Chr2:149225905 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4387A>G (p.Arg1463Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602294] |
Chr2:148490019 [GRCh38]
Chr2:149247588 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4521G>T (p.Met1507Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601201] |
Chr2:148490153 [GRCh38]
Chr2:149247722 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4704T>A (p.His1568Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602373] |
Chr2:148490336 [GRCh38]
Chr2:149247905 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4848C>G (p.Phe1616Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602438] |
Chr2:148490480 [GRCh38]
Chr2:149248049 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3726_3729dup (p.Ala1244fs) |
duplication |
Intellectual disability, autosomal dominant 1 [RCV003602533] |
Chr2:148485922..148485923 [GRCh38]
Chr2:149243491..149243492 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2827C>G (p.Gln943Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602156] |
Chr2:148483418 [GRCh38]
Chr2:149240987 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4219A>G (p.Lys1407Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003599869] |
Chr2:148489851 [GRCh38]
Chr2:149247420 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4002G>A (p.Gln1334=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003599963] |
Chr2:148489634 [GRCh38]
Chr2:149247203 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2830C>G (p.Pro944Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496679]|not provided [RCV004780593] |
Chr2:148483421 [GRCh38]
Chr2:149240990 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4498A>G (p.Asn1500Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496725] |
Chr2:148490130 [GRCh38]
Chr2:149247699 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4275A>C (p.Thr1425=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600016] |
Chr2:148489907 [GRCh38]
Chr2:149247476 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4890T>C (p.Thr1630=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602237] |
Chr2:148490522 [GRCh38]
Chr2:149248091 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4296G>A (p.Gly1432=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600093] |
Chr2:148489928 [GRCh38]
Chr2:149247497 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1365A>G (p.Ala455=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600116] |
Chr2:148469308 [GRCh38]
Chr2:149226877 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2060T>G (p.Leu687Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601526] |
Chr2:148470003 [GRCh38]
Chr2:149227572 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2772C>T (p.Ile924=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496813] |
Chr2:148483363 [GRCh38]
Chr2:149240932 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3754-15_3754-12del |
deletion |
Intellectual disability, autosomal dominant 1 [RCV003600690] |
Chr2:148489369..148489372 [GRCh38]
Chr2:149246938..149246941 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5140C>T (p.Gln1714Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600799] |
Chr2:148512897 [GRCh38]
Chr2:149270466 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4141A>G (p.Asn1381Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601890] |
Chr2:148489773 [GRCh38]
Chr2:149247342 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3940G>C (p.Gly1314Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495603] |
Chr2:148489572 [GRCh38]
Chr2:149247141 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1966T>C (p.Leu656=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600912] |
Chr2:148469909 [GRCh38]
Chr2:149227478 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.30G>A (p.Gly10=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601382] |
Chr2:148458788 [GRCh38]
Chr2:149216357 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2581ACA[1] (p.Thr862del) |
microsatellite |
Intellectual disability, autosomal dominant 1 [RCV003601563] |
Chr2:148483172..148483174 [GRCh38]
Chr2:149240741..149240743 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3902G>A (p.Gly1301Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600182] |
Chr2:148489534 [GRCh38]
Chr2:149247103 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1116C>T (p.Asn372=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601630] |
Chr2:148469059 [GRCh38]
Chr2:149226628 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4094A>G (p.Asp1365Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600174] |
Chr2:148489726 [GRCh38]
Chr2:149247295 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.398-3C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600967] |
Chr2:148468338 [GRCh38]
Chr2:149225907 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1867A>G (p.Met623Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600287] |
Chr2:148469810 [GRCh38]
Chr2:149227379 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4204A>C (p.Asn1402His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601674] |
Chr2:148489836 [GRCh38]
Chr2:149247405 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5149C>T (p.Pro1717Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600279] |
Chr2:148512906 [GRCh38]
Chr2:149270475 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.27A>T (p.Gly9=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601607] |
Chr2:148458785 [GRCh38]
Chr2:149216354 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1729A>G (p.Ser577Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003494993] |
Chr2:148469672 [GRCh38]
Chr2:149227241 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1205C>T (p.Pro402Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496399] |
Chr2:148469148 [GRCh38]
Chr2:149226717 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.774T>C (p.His258=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601085] |
Chr2:148468717 [GRCh38]
Chr2:149226286 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3547G>A (p.Asp1183Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600672] |
Chr2:148485744 [GRCh38]
Chr2:149243313 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.655G>A (p.Gly219Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600586] |
Chr2:148468598 [GRCh38]
Chr2:149226167 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.337C>A (p.His113Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600692] |
Chr2:148463859 [GRCh38]
Chr2:149221428 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.598dup (p.Arg200fs) |
duplication |
Intellectual disability, autosomal dominant 1 [RCV003601783] |
Chr2:148468536..148468537 [GRCh38]
Chr2:149226105..149226106 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.138C>T (p.Cys46=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601800] |
Chr2:148462606 [GRCh38]
Chr2:149220175 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4414T>C (p.Phe1472Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601426] |
Chr2:148490046 [GRCh38]
Chr2:149247615 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2126G>A (p.Ser709Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495954] |
Chr2:148470069 [GRCh38]
Chr2:149227638 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5071_5073dup (p.Ile1691_His1692insIle) |
duplication |
Intellectual disability, autosomal dominant 1 [RCV003496558] |
Chr2:148510092..148510093 [GRCh38]
Chr2:149267661..149267662 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1539T>C (p.Asp513=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600546] |
Chr2:148469482 [GRCh38]
Chr2:149227051 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4265G>A (p.Ser1422Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601869] |
Chr2:148489897 [GRCh38]
Chr2:149247466 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4669A>G (p.Ser1557Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003599905] |
Chr2:148490301 [GRCh38]
Chr2:149247870 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1468C>T (p.Pro490Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600680] |
Chr2:148469411 [GRCh38]
Chr2:149226980 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1503G>A (p.Arg501=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601884] |
Chr2:148469446 [GRCh38]
Chr2:149227015 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1927G>T (p.Ala643Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003599914] |
Chr2:148469870 [GRCh38]
Chr2:149227439 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2721C>A (p.Asn907Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600701] |
Chr2:148483312 [GRCh38]
Chr2:149240881 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3754-20T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601939] |
Chr2:148489366 [GRCh38]
Chr2:149246935 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.864C>G (p.Ser288=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495546] |
Chr2:148468807 [GRCh38]
Chr2:149226376 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.601C>A (p.Gln201Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600791] |
Chr2:148468544 [GRCh38]
Chr2:149226113 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1010C>A (p.Pro337His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601552] |
Chr2:148468953 [GRCh38]
Chr2:149226522 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1163A>G (p.Gln388Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601560] |
Chr2:148469106 [GRCh38]
Chr2:149226675 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1892T>C (p.Leu631Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601446]|not provided [RCV005063082] |
Chr2:148469835 [GRCh38]
Chr2:149227404 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1344T>C (p.Thr448=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601883] |
Chr2:148469287 [GRCh38]
Chr2:149226856 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3931G>T (p.Gly1311Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003829731] |
Chr2:148489563 [GRCh38]
Chr2:149247132 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3856C>G (p.Gln1286Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600665] |
Chr2:148489488 [GRCh38]
Chr2:149247057 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3938C>G (p.Pro1313Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601640] |
Chr2:148489570 [GRCh38]
Chr2:149247139 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1408G>A (p.Gly470Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602073] |
Chr2:148469351 [GRCh38]
Chr2:149226920 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3692A>C (p.Gln1231Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602337] |
Chr2:148485889 [GRCh38]
Chr2:149243458 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4962+7C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600814] |
Chr2:148490601 [GRCh38]
Chr2:149248170 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1251G>A (p.Met417Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601667] |
Chr2:148469194 [GRCh38]
Chr2:149226763 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4071T>A (p.Ser1357Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004985582]|Intellectual disability, autosomal dominant 1 [RCV003601957] |
Chr2:148489703 [GRCh38]
Chr2:149247272 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.923C>A (p.Pro308Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602364] |
Chr2:148468866 [GRCh38]
Chr2:149226435 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2750G>C (p.Ser917Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602371] |
Chr2:148483341 [GRCh38]
Chr2:149240910 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.50C>A (p.Pro17Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496050] |
Chr2:148458808 [GRCh38]
Chr2:149216377 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4126G>A (p.Val1376Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600746] |
Chr2:148489758 [GRCh38]
Chr2:149247327 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4931A>T (p.Asn1644Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601521] |
Chr2:148490563 [GRCh38]
Chr2:149248132 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1732A>G (p.Ser578Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601707] |
Chr2:148469675 [GRCh38]
Chr2:149227244 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4410G>A (p.Leu1470=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496090] |
Chr2:148490042 [GRCh38]
Chr2:149247611 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1544A>G (p.His515Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600312] |
Chr2:148469487 [GRCh38]
Chr2:149227056 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.82C>T (p.Arg28Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004373971]|Intellectual disability, autosomal dominant 1 [RCV003600324] |
Chr2:148458840 [GRCh38]
Chr2:149216409 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.365C>T (p.Ser122Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003494641] |
Chr2:148463887 [GRCh38]
Chr2:149221456 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1710T>C (p.Asn570=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496720] |
Chr2:148469653 [GRCh38]
Chr2:149227222 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1551G>C (p.Gln517His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003494666] |
Chr2:148469494 [GRCh38]
Chr2:149227063 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3935_3936delinsTT (p.Gly1312Val) |
indel |
Intellectual disability, autosomal dominant 1 [RCV003599882] |
Chr2:148489567..148489568 [GRCh38]
Chr2:149247136..149247137 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2773T>A (p.Ser925Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496101] |
Chr2:148483364 [GRCh38]
Chr2:149240933 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4654C>T (p.Pro1552Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003599898] |
Chr2:148490286 [GRCh38]
Chr2:149247855 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4288T>C (p.Trp1430Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600479] |
Chr2:148489920 [GRCh38]
Chr2:149247489 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2252A>G (p.Asn751Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600956] |
Chr2:148470195 [GRCh38]
Chr2:149227764 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4691A>G (p.Lys1564Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600969] |
Chr2:148490323 [GRCh38]
Chr2:149247892 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.66T>C (p.Pro22=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600975] |
Chr2:148458824 [GRCh38]
Chr2:149216393 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2087T>G (p.Phe696Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602180] |
Chr2:148470030 [GRCh38]
Chr2:149227599 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.196dup (p.Cys66fs) |
duplication |
Intellectual disability, autosomal dominant 1 [RCV003495647] |
Chr2:148462663..148462664 [GRCh38]
Chr2:149220232..149220233 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.4116T>C (p.Ala1372=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003599977] |
Chr2:148489748 [GRCh38]
Chr2:149247317 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4032A>C (p.Thr1344=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600494] |
Chr2:148489664 [GRCh38]
Chr2:149247233 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.809G>A (p.Arg270Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600500] |
Chr2:148468752 [GRCh38]
Chr2:149226321 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3761T>G (p.Met1254Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600902] |
Chr2:148489393 [GRCh38]
Chr2:149246962 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2829G>A (p.Gln943=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602191] |
Chr2:148483420 [GRCh38]
Chr2:149240989 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3545-3T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602193] |
Chr2:148485739 [GRCh38]
Chr2:149243308 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.188dup (p.Glu65fs) |
duplication |
Intellectual disability, autosomal dominant 1 [RCV003602195] |
Chr2:148462654..148462655 [GRCh38]
Chr2:149220223..149220224 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.4991C>G (p.Thr1664Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602436] |
Chr2:148502464 [GRCh38]
Chr2:149260033 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4293C>T (p.Asp1431=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602444] |
Chr2:148489925 [GRCh38]
Chr2:149247494 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4048A>G (p.Ile1350Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003494840] |
Chr2:148489680 [GRCh38]
Chr2:149247249 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4520T>C (p.Met1507Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003599936] |
Chr2:148490152 [GRCh38]
Chr2:149247721 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1278T>C (p.Val426=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600000] |
Chr2:148469221 [GRCh38]
Chr2:149226790 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.826C>G (p.Pro276Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602446] |
Chr2:148468769 [GRCh38]
Chr2:149226338 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2728C>G (p.Leu910Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602462] |
Chr2:148483319 [GRCh38]
Chr2:149240888 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.440C>T (p.Ser147Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602472] |
Chr2:148468383 [GRCh38]
Chr2:149225952 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.424G>A (p.Ala142Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496337] |
Chr2:148468367 [GRCh38]
Chr2:149225936 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4618A>T (p.Thr1540Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602238] |
Chr2:148490250 [GRCh38]
Chr2:149247819 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.788C>G (p.Ser263Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602493] |
Chr2:148468731 [GRCh38]
Chr2:149226300 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.417T>C (p.Pro139=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003494954] |
Chr2:148468360 [GRCh38]
Chr2:149225929 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1593T>C (p.Asn531=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600625] |
Chr2:148469536 [GRCh38]
Chr2:149227105 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1772A>G (p.Gln591Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601916] |
Chr2:148469715 [GRCh38]
Chr2:149227284 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4087A>G (p.Ile1363Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601920] |
Chr2:148489719 [GRCh38]
Chr2:149247288 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4317G>T (p.Glu1439Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601931] |
Chr2:148489949 [GRCh38]
Chr2:149247518 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1677A>G (p.Gly559=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003602254] |
Chr2:148469620 [GRCh38]
Chr2:149227189 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3598C>T (p.Gln1200Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003494992] |
Chr2:148485795 [GRCh38]
Chr2:149243364 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.5037-19T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496432] |
Chr2:148510041 [GRCh38]
Chr2:149267610 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1961A>G (p.Asp654Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600136] |
Chr2:148469904 [GRCh38]
Chr2:149227473 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2415T>C (p.Asn805=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003600677] |
Chr2:148470358 [GRCh38]
Chr2:149227927 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1588A>C (p.Ser530Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601574] |
Chr2:148469531 [GRCh38]
Chr2:149227100 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1877C>T (p.Pro626Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601171] |
Chr2:148469820 [GRCh38]
Chr2:149227389 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2518+16A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601600] |
Chr2:148470477 [GRCh38]
Chr2:149228046 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4013C>T (p.Thr1338Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601522] |
Chr2:148489645 [GRCh38]
Chr2:149247214 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4499A>T (p.Asn1500Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003601617] |
Chr2:148490131 [GRCh38]
Chr2:149247700 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4637T>C (p.Val1546Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496458] |
Chr2:148490269 [GRCh38]
Chr2:149247838 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5037-2A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495843] |
Chr2:148510058 [GRCh38]
Chr2:149267627 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.2200G>A (p.Ala734Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496476] |
Chr2:148470143 [GRCh38]
Chr2:149227712 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.754A>G (p.Arg252Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003876700]|not provided [RCV004823245] |
Chr2:148468697 [GRCh38]
Chr2:149226266 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.76C>T (p.Gln26Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495012] |
Chr2:148458834 [GRCh38]
Chr2:149216403 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.1149A>G (p.Ser383=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495908] |
Chr2:148469092 [GRCh38]
Chr2:149226661 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1321T>C (p.Ser441Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495912] |
Chr2:148469264 [GRCh38]
Chr2:149226833 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3894A>C (p.Pro1298=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003827627] |
Chr2:148489526 [GRCh38]
Chr2:149247095 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1100A>G (p.Lys367Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496606] |
Chr2:148469043 [GRCh38]
Chr2:149226612 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1698G>C (p.Leu566Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495398] |
Chr2:148469641 [GRCh38]
Chr2:149227210 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.920G>A (p.Ser307Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496239] |
Chr2:148468863 [GRCh38]
Chr2:149226432 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1369C>T (p.Pro457Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003826827] |
Chr2:148469312 [GRCh38]
Chr2:149226881 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.337C>T (p.His113Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495386] |
Chr2:148463859 [GRCh38]
Chr2:149221428 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4142A>G (p.Asn1381Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003828469] |
Chr2:148489774 [GRCh38]
Chr2:149247343 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2725C>T (p.His909Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003494633] |
Chr2:148483316 [GRCh38]
Chr2:149240885 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1433G>A (p.Gly478Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495452] |
Chr2:148469376 [GRCh38]
Chr2:149226945 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1475C>T (p.Ser492Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496746] |
Chr2:148469418 [GRCh38]
Chr2:149226987 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2322A>G (p.Pro774=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496358] |
Chr2:148470265 [GRCh38]
Chr2:149227834 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.113+5G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003495808] |
Chr2:148458876 [GRCh38]
Chr2:149216445 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3925G>T (p.Val1309Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496418] |
Chr2:148489557 [GRCh38]
Chr2:149247126 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.398-11T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003825356] |
Chr2:148468330 [GRCh38]
Chr2:149225899 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4642G>A (p.Glu1548Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003497078] |
Chr2:148490274 [GRCh38]
Chr2:149247843 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1101A>C (p.Lys367Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496657] |
Chr2:148469044 [GRCh38]
Chr2:149226613 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.543A>G (p.Leu181=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003832125] |
Chr2:148468486 [GRCh38]
Chr2:149226055 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.948T>A (p.Asn316Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496876] |
Chr2:148468891 [GRCh38]
Chr2:149226460 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4647G>A (p.Glu1549=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003497127] |
Chr2:148490279 [GRCh38]
Chr2:149247848 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3677A>G (p.Gln1226Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003856866] |
Chr2:148485874 [GRCh38]
Chr2:149243443 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5037-12C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496950] |
Chr2:148510048 [GRCh38]
Chr2:149267617 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.706T>C (p.Ser236Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003497117] |
Chr2:148468649 [GRCh38]
Chr2:149226218 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1398A>T (p.Ser466=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003497136] |
Chr2:148469341 [GRCh38]
Chr2:149226910 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.516T>C (p.Ile172=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003832107] |
Chr2:148468459 [GRCh38]
Chr2:149226028 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1594G>T (p.Val532Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004416854] |
Chr2:148469537 [GRCh38]
Chr2:149227106 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.316A>T (p.Ile106Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004416859] |
Chr2:148463838 [GRCh38]
Chr2:149221407 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1318A>G (p.Thr440Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003839613] |
Chr2:148469261 [GRCh38]
Chr2:149226830 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3764A>C (p.Gln1255Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003497137] |
Chr2:148489396 [GRCh38]
Chr2:149246965 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2636T>G (p.Leu879Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496855] |
Chr2:148483227 [GRCh38]
Chr2:149240796 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2752C>T (p.Leu918Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003837148] |
Chr2:148483343 [GRCh38]
Chr2:149240912 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1109A>G (p.Asn370Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496880] |
Chr2:148469052 [GRCh38]
Chr2:149226621 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4187G>A (p.Gly1396Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496985]|not provided [RCV004812494] |
Chr2:148489819 [GRCh38]
Chr2:149247388 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3936C>T (p.Gly1312=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003496944] |
Chr2:148489568 [GRCh38]
Chr2:149247137 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2508T>C (p.Ser836=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003497196] |
Chr2:148470451 [GRCh38]
Chr2:149228020 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1185C>T (p.Ser395=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003818659] |
Chr2:148469128 [GRCh38]
Chr2:149226697 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5086A>G (p.Ser1696Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003844268] |
Chr2:148510109 [GRCh38]
Chr2:149267678 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1811A>G (p.Asn604Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003866604] |
Chr2:148469754 [GRCh38]
Chr2:149227323 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2234A>G (p.Asn745Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003824296] |
Chr2:148470177 [GRCh38]
Chr2:149227746 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2439G>A (p.Gln813=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003843836] |
Chr2:148470382 [GRCh38]
Chr2:149227951 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2373G>C (p.Gly791=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003866159] |
Chr2:148470316 [GRCh38]
Chr2:149227885 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3555A>G (p.Ser1185=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003853163] |
Chr2:148485752 [GRCh38]
Chr2:149243321 [GRCh37]
Chr2:2q23.1 |
likely benign |
| GRCh37/hg19 2q22.3-23.1(chr2:148646132-148829749)x1 |
copy number loss |
not specified [RCV003986366] |
Chr2:148646132..148829749 [GRCh37]
Chr2:2q22.3-23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2617A>G (p.Thr873Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003868178] |
Chr2:148483208 [GRCh38]
Chr2:149240777 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1603A>G (p.Thr535Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003871605] |
Chr2:148469546 [GRCh38]
Chr2:149227115 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1093C>G (p.Pro365Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003868398] |
Chr2:148469036 [GRCh38]
Chr2:149226605 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1115A>G (p.Asn372Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003868691] |
Chr2:148469058 [GRCh38]
Chr2:149226627 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3 |
copy number gain |
not specified [RCV003986337] |
Chr2:134589311..149951291 [GRCh37]
Chr2:2q21.2-23.2 |
likely pathogenic |
| GRCh37/hg19 2q23.1(chr2:148901160-148979973)x1 |
copy number loss |
not specified [RCV003986334] |
Chr2:148901160..148979973 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.3617A>G (p.Asn1206Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003872066] |
Chr2:148485814 [GRCh38]
Chr2:149243383 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2045A>G (p.Lys682Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003872314] |
Chr2:148469988 [GRCh38]
Chr2:149227557 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3753+11C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003871506] |
Chr2:148485961 [GRCh38]
Chr2:149243530 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1223C>T (p.Pro408Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003818836] |
Chr2:148469166 [GRCh38]
Chr2:149226735 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2015A>G (p.Gln672Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003861791] |
Chr2:148469958 [GRCh38]
Chr2:149227527 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2518+6G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003848746] |
Chr2:148470467 [GRCh38]
Chr2:149228036 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1507T>A (p.Ser503Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003862900] |
Chr2:148469450 [GRCh38]
Chr2:149227019 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4293C>G (p.Asp1431Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV003846980] |
Chr2:148489925 [GRCh38]
Chr2:149247494 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4352A>C (p.His1451Pro) |
single nucleotide variant |
not provided [RCV003884213] |
Chr2:148489984 [GRCh38]
Chr2:149247553 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2305G>T (p.Val769Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004416856] |
Chr2:148470248 [GRCh38]
Chr2:149227817 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3971C>T (p.Ala1324Val) |
single nucleotide variant |
MBD5-related disorder [RCV003969495] |
Chr2:148489603 [GRCh38]
Chr2:149247172 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh38/hg38 2q23.1(chr2:148198092-148263296)x1 |
copy number loss |
Intellectual disability, autosomal dominant 1 [RCV004557295] |
Chr2:148198092..148263296 [GRCh38]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2519-10_2519-9dup |
duplication |
MBD5-related disorder [RCV003957096] |
Chr2:148483088..148483089 [GRCh38]
Chr2:149240657..149240658 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3775G>A (p.Ala1259Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004416858] |
Chr2:148489407 [GRCh38]
Chr2:149246976 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.397+5G>C |
single nucleotide variant |
not provided [RCV003886915] |
Chr2:148463924 [GRCh38]
Chr2:149221493 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.1655A>G (p.Lys552Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004987172]|not provided [RCV004547106] |
Chr2:148469598 [GRCh38]
Chr2:149227167 [GRCh37]
Chr2:2q23.1 |
likely benign|uncertain significance |
| NM_001378120.1(MBD5):c.1592A>T (p.Asn531Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004416853] |
Chr2:148469535 [GRCh38]
Chr2:149227104 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2265A>T (p.Arg755Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004416855] |
Chr2:148470208 [GRCh38]
Chr2:149227777 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3880C>T (p.Pro1294Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004416860] |
Chr2:148489512 [GRCh38]
Chr2:149247081 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1078A>T (p.Ile360Phe) |
single nucleotide variant |
MBD5-related disorder [RCV003896414] |
Chr2:148469021 [GRCh38]
Chr2:149226590 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3825T>G (p.Pro1275=) |
single nucleotide variant |
MBD5-related disorder [RCV003911651] |
Chr2:148489457 [GRCh38]
Chr2:149247026 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.992A>C (p.Lys331Thr) |
single nucleotide variant |
not provided [RCV003887302] |
Chr2:148468935 [GRCh38]
Chr2:149226504 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2651C>T (p.Pro884Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004416857] |
Chr2:148483242 [GRCh38]
Chr2:149240811 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.346dup (p.Met116fs) |
duplication |
Intellectual disability, autosomal dominant 1 [RCV004555244] |
Chr2:148463867..148463868 [GRCh38]
Chr2:149221436..149221437 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.1799G>A (p.Ser600Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004637731] |
Chr2:148469742 [GRCh38]
Chr2:149227311 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2658G>C (p.Gly886=) |
single nucleotide variant |
not provided [RCV004599065] |
Chr2:148483249 [GRCh38]
Chr2:149240818 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2195G>A (p.Cys732Tyr) |
single nucleotide variant |
not provided [RCV004575961] |
Chr2:148470138 [GRCh38]
Chr2:149227707 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1796G>A (p.Ser599Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004636606] |
Chr2:148469739 [GRCh38]
Chr2:149227308 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4958G>A (p.Gly1653Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004637729] |
Chr2:148490590 [GRCh38]
Chr2:149248159 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1651G>T (p.Val551Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004637730] |
Chr2:148469594 [GRCh38]
Chr2:149227163 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1580C>G (p.Ala527Gly) |
single nucleotide variant |
not provided [RCV004699052] |
Chr2:148469523 [GRCh38]
Chr2:149227092 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.625G>A (p.Gly209Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004637733] |
Chr2:148468568 [GRCh38]
Chr2:149226137 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1819G>C (p.Ala607Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004637732] |
Chr2:148469762 [GRCh38]
Chr2:149227331 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4073C>G (p.Ala1358Gly) |
single nucleotide variant |
not provided [RCV004575966] |
Chr2:148489705 [GRCh38]
Chr2:149247274 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1744G>A (p.Ala582Thr) |
single nucleotide variant |
not provided [RCV004699083] |
Chr2:148469687 [GRCh38]
Chr2:149227256 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1186A>G (p.Met396Val) |
single nucleotide variant |
not provided [RCV004769941] |
Chr2:148469129 [GRCh38]
Chr2:149226698 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.782C>T (p.Pro261Leu) |
single nucleotide variant |
not provided [RCV004770542] |
Chr2:148468725 [GRCh38]
Chr2:149226294 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3981T>G (p.Asp1327Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 31A [RCV004819002] |
Chr2:148489613 [GRCh38]
Chr2:149247182 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1043A>C (p.Lys348Thr) |
single nucleotide variant |
not provided [RCV004767847] |
Chr2:148468986 [GRCh38]
Chr2:149226555 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2827C>A (p.Gln943Lys) |
single nucleotide variant |
not provided [RCV004781212] |
Chr2:148483418 [GRCh38]
Chr2:149240987 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5083A>G (p.Met1695Val) |
single nucleotide variant |
not provided [RCV004727753] |
Chr2:148510106 [GRCh38]
Chr2:149267675 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.829T>G (p.Ser277Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV004764691] |
Chr2:148468772 [GRCh38]
Chr2:149226341 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1772A>C (p.Gln591Pro) |
single nucleotide variant |
not provided [RCV004766374] |
Chr2:148469715 [GRCh38]
Chr2:149227284 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2344G>A (p.Gly782Ser) |
single nucleotide variant |
not provided [RCV004778278] |
Chr2:148470287 [GRCh38]
Chr2:149227856 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1658G>A (p.Ser553Asn) |
single nucleotide variant |
not provided [RCV004723876] |
Chr2:148469601 [GRCh38]
Chr2:149227170 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3997A>G (p.Met1333Val) |
single nucleotide variant |
not provided [RCV004723948] |
Chr2:148489629 [GRCh38]
Chr2:149247198 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2289T>G (p.Asn763Lys) |
single nucleotide variant |
not provided [RCV004724143] |
Chr2:148470232 [GRCh38]
Chr2:149227801 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2303T>A (p.Phe768Tyr) |
single nucleotide variant |
MBD5-related disorder [RCV004730349] |
Chr2:148470246 [GRCh38]
Chr2:149227815 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1952A>C (p.Gln651Pro) |
single nucleotide variant |
not provided [RCV004763200] |
|
uncertain significance |
| NM_001378120.1(MBD5):c.4901G>A (p.Gly1634Glu) |
single nucleotide variant |
not provided [RCV004795037] |
Chr2:148490533 [GRCh38]
Chr2:149248102 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.938C>A (p.Pro313Gln) |
single nucleotide variant |
MBD5-related disorder [RCV004731725] |
Chr2:148468881 [GRCh38]
Chr2:149226450 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4922A>T (p.Asp1641Val) |
single nucleotide variant |
MBD5-related disorder [RCV004731880] |
Chr2:148490554 [GRCh38]
Chr2:149248123 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4731C>G (p.Ser1577Arg) |
single nucleotide variant |
not provided [RCV004769585] |
Chr2:148490363 [GRCh38]
Chr2:149247932 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1333A>T (p.Met445Leu) |
single nucleotide variant |
not provided [RCV004774878] |
Chr2:148469276 [GRCh38]
Chr2:149226845 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.695A>C (p.Tyr232Ser) |
single nucleotide variant |
not provided [RCV004767967] |
Chr2:148468638 [GRCh38]
Chr2:149226207 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1015C>G (p.Pro339Ala) |
single nucleotide variant |
MBD5-related disorder [RCV004752619] |
Chr2:148468958 [GRCh38]
Chr2:149226527 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4582C>G (p.Pro1528Ala) |
single nucleotide variant |
not provided [RCV004768289] |
Chr2:148490214 [GRCh38]
Chr2:149247783 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.308A>C (p.Lys103Thr) |
single nucleotide variant |
not provided [RCV004763846] |
|
uncertain significance |
| NM_001378120.1(MBD5):c.1140T>G (p.Ser380Arg) |
single nucleotide variant |
not provided [RCV004776113] |
Chr2:148469083 [GRCh38]
Chr2:149226652 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4714G>C (p.Asp1572His) |
single nucleotide variant |
not provided [RCV004769903] |
Chr2:148490346 [GRCh38]
Chr2:149247915 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4844C>A (p.Thr1615Lys) |
single nucleotide variant |
MBD5-related disorder [RCV004752628] |
Chr2:148490476 [GRCh38]
Chr2:149248045 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2483T>C (p.Ile828Thr) |
single nucleotide variant |
not provided [RCV004725769] |
Chr2:148470426 [GRCh38]
Chr2:149227995 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2126G>T (p.Ser709Ile) |
single nucleotide variant |
not provided [RCV004760228] |
|
uncertain significance |
| NM_001378120.1(MBD5):c.3932G>T (p.Gly1311Val) |
single nucleotide variant |
MBD5-related disorder [RCV004753955] |
Chr2:148489564 [GRCh38]
Chr2:149247133 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.196T>C (p.Cys66Arg) |
single nucleotide variant |
not provided [RCV004768077] |
Chr2:148462664 [GRCh38]
Chr2:149220233 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4324A>G (p.Arg1442Gly) |
single nucleotide variant |
not provided [RCV004773817] |
Chr2:148489956 [GRCh38]
Chr2:149247525 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.70G>C (p.Gly24Arg) |
single nucleotide variant |
not provided [RCV004773999] |
Chr2:148458828 [GRCh38]
Chr2:149216397 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4931A>G (p.Asn1644Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005028817] |
Chr2:148490563 [GRCh38]
Chr2:149248132 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| GRCh37/hg19 2q23.1(chr2:148778444-148923077)x1 |
copy number loss |
not provided [RCV004819332] |
Chr2:148778444..148923077 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2035G>A (p.Ala679Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004984512]|Intellectual disability, autosomal dominant 1 [RCV005112485] |
Chr2:148469978 [GRCh38]
Chr2:149227547 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1053A>T (p.Leu351Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004984513] |
Chr2:148468996 [GRCh38]
Chr2:149226565 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1015C>A (p.Pro339Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004984514] |
Chr2:148468958 [GRCh38]
Chr2:149226527 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4582C>A (p.Pro1528Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004984516] |
Chr2:148490214 [GRCh38]
Chr2:149247783 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1694T>C (p.Ile565Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004984515] |
Chr2:148469637 [GRCh38]
Chr2:149227206 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2074G>C (p.Gly692Arg) |
single nucleotide variant |
not provided [RCV004820732] |
Chr2:148470017 [GRCh38]
Chr2:149227586 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1674G>A (p.Leu558=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005174696] |
Chr2:148469617 [GRCh38]
Chr2:149227186 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2175C>G (p.Ala725=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005146517] |
Chr2:148470118 [GRCh38]
Chr2:149227687 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2623G>T (p.Ala875Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005146560] |
Chr2:148483214 [GRCh38]
Chr2:149240783 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.761A>G (p.Asn254Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005171254] |
Chr2:148468704 [GRCh38]
Chr2:149226273 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2740T>C (p.Leu914=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005173448] |
Chr2:148483331 [GRCh38]
Chr2:149240900 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.541C>T (p.Leu181=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005174519] |
Chr2:148468484 [GRCh38]
Chr2:149226053 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.815C>G (p.Pro272Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005208267] |
Chr2:148468758 [GRCh38]
Chr2:149226327 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1477_1485del (p.490PRS[1]) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV005016075] |
Chr2:148469414..148469422 [GRCh38]
Chr2:149226983..149226991 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1891C>G (p.Leu631Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005065687] |
Chr2:148469834 [GRCh38]
Chr2:149227403 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2144T>C (p.Leu715Ser) |
single nucleotide variant |
not provided [RCV005063497] |
Chr2:148470087 [GRCh38]
Chr2:149227656 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3924C>A (p.Leu1308=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005170877] |
Chr2:148489556 [GRCh38]
Chr2:149247125 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4511G>T (p.Arg1504Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005172630] |
Chr2:148490143 [GRCh38]
Chr2:149247712 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.478G>A (p.Val160Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005064123] |
Chr2:148468421 [GRCh38]
Chr2:149225990 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.398-9T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005087860] |
Chr2:148468332 [GRCh38]
Chr2:149225901 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4327T>C (p.Trp1443Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005171727] |
Chr2:148489959 [GRCh38]
Chr2:149247528 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5066C>T (p.Ala1689Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005086468] |
Chr2:148510089 [GRCh38]
Chr2:149267658 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3747C>T (p.Asn1249=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005106017] |
Chr2:148485944 [GRCh38]
Chr2:149243513 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NC_000002.12:g.148021687A>C |
single nucleotide variant |
not provided [RCV005227367] |
Chr2:148021687 [GRCh38]
Chr2:148779256 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.217-18A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005170903] |
Chr2:148463721 [GRCh38]
Chr2:149221290 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2377T>C (p.Cys793Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005173087] |
Chr2:148470320 [GRCh38]
Chr2:149227889 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.835A>T (p.Met279Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005085099] |
Chr2:148468778 [GRCh38]
Chr2:149226347 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.881G>A (p.Arg294Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005105755] |
Chr2:148468824 [GRCh38]
Chr2:149226393 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4739G>T (p.Gly1580Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005074142] |
Chr2:148490371 [GRCh38]
Chr2:149247940 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3805C>T (p.Pro1269Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005183605] |
Chr2:148489437 [GRCh38]
Chr2:149247006 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3793A>C (p.Ile1265Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005117650] |
Chr2:148489425 [GRCh38]
Chr2:149246994 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4543A>G (p.Asn1515Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005206901] |
Chr2:148490175 [GRCh38]
Chr2:149247744 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1072C>T (p.Leu358Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005183628] |
Chr2:148469015 [GRCh38]
Chr2:149226584 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3827A>C (p.Glu1276Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005159621] |
Chr2:148489459 [GRCh38]
Chr2:149247028 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.398A>G (p.Asn133Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005190176] |
Chr2:148468341 [GRCh38]
Chr2:149225910 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1829G>C (p.Gly610Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005110764] |
Chr2:148469772 [GRCh38]
Chr2:149227341 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1590T>C (p.Ser530=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005115946] |
Chr2:148469533 [GRCh38]
Chr2:149227102 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.14A>G (p.Lys5Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005131003] |
Chr2:148458772 [GRCh38]
Chr2:149216341 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3906A>G (p.Gln1302=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005187603] |
Chr2:148489538 [GRCh38]
Chr2:149247107 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4494G>A (p.Arg1498=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005190945] |
Chr2:148490126 [GRCh38]
Chr2:149247695 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1021C>A (p.Pro341Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005159138] |
Chr2:148468964 [GRCh38]
Chr2:149226533 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3813C>T (p.Leu1271=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005201133] |
Chr2:148489445 [GRCh38]
Chr2:149247014 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4240G>A (p.Gly1414Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005203391] |
Chr2:148489872 [GRCh38]
Chr2:149247441 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3566A>G (p.Asn1189Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005182674] |
Chr2:148485763 [GRCh38]
Chr2:149243332 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1343C>T (p.Thr448Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005143551] |
Chr2:148469286 [GRCh38]
Chr2:149226855 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3811C>A (p.Leu1271Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005143555] |
Chr2:148489443 [GRCh38]
Chr2:149247012 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1007C>G (p.Pro336Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005143624] |
Chr2:148468950 [GRCh38]
Chr2:149226519 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2426C>T (p.Pro809Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005143727] |
Chr2:148470369 [GRCh38]
Chr2:149227938 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1695C>A (p.Ile565=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005148875] |
Chr2:148469638 [GRCh38]
Chr2:149227207 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2829del (p.Gln943fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV005125690] |
Chr2:148483420 [GRCh38]
Chr2:149240989 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.3835A>G (p.Asn1279Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005118821] |
Chr2:148489467 [GRCh38]
Chr2:149247036 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4641A>G (p.Leu1547=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005193236] |
Chr2:148490273 [GRCh38]
Chr2:149247842 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.442G>A (p.Val148Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005113196] |
Chr2:148468385 [GRCh38]
Chr2:149225954 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4359C>G (p.Gly1453=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005206904] |
Chr2:148489991 [GRCh38]
Chr2:149247560 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1228C>T (p.Pro410Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005141971] |
Chr2:148469171 [GRCh38]
Chr2:149226740 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4043G>A (p.Ser1348Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005141948] |
Chr2:148489675 [GRCh38]
Chr2:149247244 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4184G>C (p.Arg1395Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005119477] |
Chr2:148489816 [GRCh38]
Chr2:149247385 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.23A>G (p.Asp8Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005191362] |
Chr2:148458781 [GRCh38]
Chr2:149216350 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.856C>A (p.Gln286Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005169108] |
Chr2:148468799 [GRCh38]
Chr2:149226368 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2623G>A (p.Ala875Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005144600] |
Chr2:148483214 [GRCh38]
Chr2:149240783 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4286A>G (p.Gln1429Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005199014] |
Chr2:148489918 [GRCh38]
Chr2:149247487 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4753C>G (p.Pro1585Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005128724] |
Chr2:148490385 [GRCh38]
Chr2:149247954 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1613G>C (p.Ser538Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005185028] |
Chr2:148469556 [GRCh38]
Chr2:149227125 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.421C>T (p.Arg141Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005165057] |
Chr2:148468364 [GRCh38]
Chr2:149225933 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2075G>A (p.Gly692Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005082859] |
Chr2:148470018 [GRCh38]
Chr2:149227587 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1766C>A (p.Ala589Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005169355] |
Chr2:148469709 [GRCh38]
Chr2:149227278 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1392C>G (p.Ser464=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005126609] |
Chr2:148469335 [GRCh38]
Chr2:149226904 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4844C>T (p.Thr1615Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005073762] |
Chr2:148490476 [GRCh38]
Chr2:149248045 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.61G>A (p.Val21Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005140691] |
Chr2:148458819 [GRCh38]
Chr2:149216388 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.360T>G (p.His120Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005185383] |
Chr2:148463882 [GRCh38]
Chr2:149221451 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.43G>A (p.Gly15Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005117619] |
Chr2:148458801 [GRCh38]
Chr2:149216370 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.955A>G (p.Thr319Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005148263] |
Chr2:148468898 [GRCh38]
Chr2:149226467 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.362C>T (p.Pro121Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005178917] |
Chr2:148463884 [GRCh38]
Chr2:149221453 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4127T>C (p.Val1376Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005160585] |
Chr2:148489759 [GRCh38]
Chr2:149247328 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1382G>T (p.Arg461Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005164510] |
Chr2:148469325 [GRCh38]
Chr2:149226894 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1240C>T (p.Pro414Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005157617] |
Chr2:148469183 [GRCh38]
Chr2:149226752 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1155C>T (p.Val385=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005159554] |
Chr2:148469098 [GRCh38]
Chr2:149226667 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.460G>A (p.Glu154Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005121754] |
Chr2:148468403 [GRCh38]
Chr2:149225972 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3660G>A (p.Gln1220=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005129887] |
Chr2:148485857 [GRCh38]
Chr2:149243426 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1730G>A (p.Ser577Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005193024] |
Chr2:148469673 [GRCh38]
Chr2:149227242 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3588G>C (p.Leu1196=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005076553] |
Chr2:148485785 [GRCh38]
Chr2:149243354 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1450A>G (p.Ser484Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005157859] |
Chr2:148469393 [GRCh38]
Chr2:149226962 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1843G>A (p.Glu615Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005191166] |
Chr2:148469786 [GRCh38]
Chr2:149227355 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3822_3840del (p.Pro1275fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV005120330] |
Chr2:148489450..148489468 [GRCh38]
Chr2:149247019..149247037 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.3944A>G (p.Asp1315Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005076797] |
Chr2:148489576 [GRCh38]
Chr2:149247145 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1246C>T (p.His416Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005119522] |
Chr2:148469189 [GRCh38]
Chr2:149226758 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3828G>A (p.Glu1276=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005187057] |
Chr2:148489460 [GRCh38]
Chr2:149247029 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.3929T>G (p.Val1310Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005140929] |
Chr2:148489561 [GRCh38]
Chr2:149247130 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3917A>G (p.Asp1306Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005138295] |
Chr2:148489549 [GRCh38]
Chr2:149247118 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2730T>C (p.Leu910=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005164164] |
Chr2:148483321 [GRCh38]
Chr2:149240890 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.2179A>C (p.Asn727His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005165979] |
Chr2:148470122 [GRCh38]
Chr2:149227691 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5089G>A (p.Glu1697Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005133615] |
Chr2:148510112 [GRCh38]
Chr2:149267681 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3545-11del |
deletion |
Intellectual disability, autosomal dominant 1 [RCV005166601] |
Chr2:148485727 [GRCh38]
Chr2:149243296 [GRCh37]
Chr2:2q23.1 |
benign |
| NM_001378120.1(MBD5):c.1338G>A (p.Met446Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005159198] |
Chr2:148469281 [GRCh38]
Chr2:149226850 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5037-11A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005163411] |
Chr2:148510049 [GRCh38]
Chr2:149267618 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4823T>G (p.Leu1608Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005199393] |
Chr2:148490455 [GRCh38]
Chr2:149248024 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.459T>C (p.His153=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005189282] |
Chr2:148468402 [GRCh38]
Chr2:149225971 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1084G>T (p.Asp362Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005206453] |
Chr2:148469027 [GRCh38]
Chr2:149226596 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5110A>G (p.Thr1704Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005118863] |
Chr2:148510133 [GRCh38]
Chr2:149267702 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.101T>A (p.Val34Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005138567] |
Chr2:148458859 [GRCh38]
Chr2:149216428 [GRCh37]
Chr2:2q23.1 |
likely pathogenic |
| NM_001378120.1(MBD5):c.2258C>A (p.Pro753His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005116568] |
Chr2:148470201 [GRCh38]
Chr2:149227770 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4769G>C (p.Ser1590Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005150537] |
Chr2:148490401 [GRCh38]
Chr2:149247970 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5036A>G (p.Lys1679Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005188152] |
Chr2:148502509 [GRCh38]
Chr2:149260078 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1394C>T (p.Thr465Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005137548] |
Chr2:148469337 [GRCh38]
Chr2:149226906 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.2586A>G (p.Thr862=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005176846] |
Chr2:148483177 [GRCh38]
Chr2:149240746 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4384G>A (p.Glu1462Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005130651] |
Chr2:148490016 [GRCh38]
Chr2:149247585 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.5079G>A (p.Glu1693=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005069218] |
Chr2:148510102 [GRCh38]
Chr2:149267671 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.591C>G (p.Val197=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005203369] |
Chr2:148468534 [GRCh38]
Chr2:149226103 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.4254C>A (p.Phe1418Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005198623] |
Chr2:148489886 [GRCh38]
Chr2:149247455 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.380G>A (p.Ser127Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005127565] |
Chr2:148463902 [GRCh38]
Chr2:149221471 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4241G>A (p.Gly1414Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005177177] |
Chr2:148489873 [GRCh38]
Chr2:149247442 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4963-5C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005184017] |
Chr2:148502431 [GRCh38]
Chr2:149260000 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.1036C>A (p.Leu346Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005131236] |
Chr2:148468979 [GRCh38]
Chr2:149226548 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3697A>G (p.Thr1233Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005149957] |
Chr2:148485894 [GRCh38]
Chr2:149243463 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.1443C>G (p.Ala481=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005184923] |
Chr2:148469386 [GRCh38]
Chr2:149226955 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5059T>G (p.Leu1687Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005199002] |
Chr2:148510082 [GRCh38]
Chr2:149267651 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.397+10A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005123378] |
Chr2:148463929 [GRCh38]
Chr2:149221498 [GRCh37]
Chr2:2q23.1 |
likely benign |
| NM_001378120.1(MBD5):c.5121A>T (p.Gln1707His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005126753] |
Chr2:148512878 [GRCh38]
Chr2:149270447 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.3991A>T (p.Lys1331Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005199389] |
Chr2:148489623 [GRCh38]
Chr2:149247192 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.2257C>T (p.Pro753Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005115337] |
Chr2:148470200 [GRCh38]
Chr2:149227769 [GRCh37]
Chr2:2q23.1 |
uncertain significance |
| NM_001378120.1(MBD5):c.4734del (p.Asn1579fs) |
deletion |
Intellectual disability, autosomal dominant 1 [RCV005126866] |
Chr2:148490365 [GRCh38]
Chr2:149247934 [GRCh37]
Chr2:2q23.1 |
pathogenic |
| NM_001378120.1(MBD5):c.633A>G (p.Lys211=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 1 [RCV005110878] |
Chr2:148468576 [GRCh38]
Chr2:149226145 [GRCh37]
Chr2:2q23.1 |
likely benign |
