Full data view for gene MBD5

Information The variants shown are described using the NM_001378120.1 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. _1_15_ c.-997_*536{2} r.0? p.0? Unknown - pathogenic (dominant) g.(149030000_149067292)_(149567481_149600000)dup - chr2:149,067,292-149,567,481dup - EPC2_000003 500 kb duplication including MBD5 dominantly associated with ID, dysmorphism, language impairments, infantile hypotonia, gross motor delay and autistic features PubMed: Milani 2019 - - De novo - - - - - DNA arraySNP, SEQ, SEQ-NG - WES ? Fam1PatVI5 PubMed: Milani 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M yes United States - - - - - 2 Johan den Dunnen
+/. _1_2i c.-100055234_-924-77889del r.0? p.0? Unknown ACMG pathogenic g.(?_148724343)_(148858380_?)del g.(?_147966774)_(148100811_?)del NM_001378120: del noncoding ex1 - MBD5_000114 - PubMed: Xiao 2024 - - De novo yes - - - - DNA OM whole blood Xinhua Hospital neurodegeneration OGM_P40 PubMed: Xiao 2024 - M no China Chinese - - - - 3 Xiaomei Luo
+?/. - c.-55234_-924-77889del r.0? p.0? Unknown ACMG pathogenic (dominant) g.148724343_148858380del g.147966774_148100811del - - MBD5_000116 - - - - De novo - - - - - RNA SEQ-NG-RNA whole blood - ID R126 - - M no China Chinese - - - - 1 Xiaomei Luo
-?/. - c.-924-18534G>A r.(=) p.(=) Unknown - likely benign g.148917735G>A - MBD5(NM_001378120.1):c.-924-18534G>A - ORC4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-680+6323_-680+6324dup r.(=) p.(=) Unknown - likely benign g.148997287_148997288dup - MBD5(NM_001378120.1):c.-680+6323_-680+6324dup - ORC4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(?_-557+30784)_(1526_?)del r.? p.0? Unknown - pathogenic (dominant) g.(?_149130689)_(149227038_?)del - chr.2:149,130,689-149,227,038 - MBD5_000070 - PubMed: Mahler 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Pat11 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected non-carrier parents - no Germany - - - - - 1 Johan den Dunnen
+?/. - c.74G>A r.(?) p.(Trp25Ter) Unknown ACMG likely pathogenic (dominant) g.149216401G>A g.148458832G>A - - MBD5_000074 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - DNA SEQ-NG-I - - MRD1 178965 - - F - Germany - - - - - 1 Andreas Laner
+/. - c.150del r.(?) p.(Thr52HisfsTer31) Unknown - pathogenic (dominant) g.149220187del g.148462618del - - MBD5_000104 - PubMed: Kleefstra 2012 - - De novo - - - - - DNA SEQ-NG, SEQ - gene panel KLEFS KS78 PubMed: Kleefstra 2012 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.236G>A r.(?) p.(Gly79Glu) Parent #1 - VUS g.149221327G>A g.148463758G>A - - MBD5_000062 conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34995577 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+/. 8 c.254_255del r.(?) p.(Arg85AsnfsTer6) Paternal (confirmed) - pathogenic g.149221345_149221346del g.148463776_148463777del 254_255delGA - MBD5_000002 - PubMed: Han 2018 - - Germline yes - - - - DNA SEQ-NG-I - - DD 30631761-Pat46_S3 PubMed: Han 2018 - - - Korea - - - - - 1 Joonhong Park
?/. - c.259G>T r.(?) p.(Ala87Ser) Unknown - VUS g.149221350G>T g.148463781G>T MBD5(NM_018328.5):c.259G>T (p.A87S) - MBD5_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.288_301del r.(?) p.(Lys98Ter) Unknown ACMG likely pathogenic g.149221379_149221392del g.148463810_148463823del - - MBD5_000001 - PubMed: Trujillano 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - MRD1 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - 1 Daniel Trujillano
+?/. - c.340_347del r.(?) p.(Lys114GlyfsTer35) Unknown - pathogenic (dominant) g.149221431_149221438del g.148463862_148463869del - - MBD5_000066 - PubMed: Hamdan 2015 - - De novo - - - - - DNA SEQ-NG - WES ID 79.65 PubMed: Hamdan 2015 - M - Canada - - - - - 1 Johan den Dunnen
+?/. 8 c.378del r.(?) p.(Ser127ValfsTer11) Unknown ACMG likely pathogenic g.149221469del g.148463900del - - MBD5_000103 - - - - Germline yes - - - - DNA SEQ-NG-I peripheral blood CES NDD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.385G>A r.(?) p.(Gly129Arg) Unknown - VUS g.149221476G>A g.148463907G>A MBD5(NM_018328.5):c.385G>A (p.G129R) - MBD5_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.397+9T>C r.(=) p.(=) Unknown - likely benign g.149221497T>C - MBD5(NM_001378120.1):c.397+9T>C - ORC4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(469del) r.(?) p.(Thr157Glnfs*4) Unknown - pathogenic (dominant) g.(149225981del) - Thr157Glnfs*4 - MBD5_000067 Variant Error [ESYNTAX]: This genomic variant has an error (char 25: expected one of ')', '_', or a digit). Please fix this entry and then remove this message. PubMed: Carvill 2013 - - De novo - - - - - DNA SEQ, SEQ-NG - 65-gene panel EE T1898 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.509T>G r.(?) p.(Leu170*) Unknown - pathogenic g.149226021T>G g.148468452T>G - - MBD5_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.550C>T r.(?) p.(Gln184Ter) Unknown ACMG pathogenic (dominant) g.149226062C>T g.148468493C>T - - MBD5_000095 ACMG PVS1,PM2,PP3 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat21 PubMed: Chuan 2022 - M - China - - - - - 1 Johan den Dunnen
?/. 9 c.845G>A r.(?) p.(Gly282Asp) Unknown - VUS g.149226357G>A g.148468788G>A - - MBD5_000075 - PubMed: Ganapathy 2019 - rs759201974 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1788 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. - c.930del r.(?) p.(Met310Ilefs*42) Unknown - likely pathogenic g.149226442del g.148468873del MBD5(NM_018328.4):c.930delG (p.(Met310fs)) - MBD5_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.973C>T r.(973C>T) p.(Arg325*) Unknown ACMG likely pathogenic g.149226485C>T g.148468916C>T - - MBD5_000115 - - ClinVar-521004 rs1553518509 Germline yes - - - - DNA SEQ-NG-I peripheral blood CES NDD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+?/. - c.1017del r.(?) p.(Pro340Leufs*12) Unknown - likely pathogenic g.149226529del g.148468960del - - MBD5_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1141T>C r.(?) p.(Phe381Leu) Unknown - VUS g.149226653T>C g.148469084T>C MBD5(NM_018328.5):c.1141T>C (p.F381L) - MBD5_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1234G>A r.(?) p.(Val412Ile) Unknown - likely benign g.149226746G>A g.148469177G>A MBD5(NM_018328.5):c.1234G>A (p.V412I) - MBD5_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1376G>A r.(?) p.(Arg459Lys) Unknown - VUS g.149226888G>A g.148469319G>A MBD5(NM_018328.5):c.1376G>A (p.R459K) - MBD5_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1400C>G r.(?) p.(Ser467*) Unknown - likely pathogenic g.149226912C>G - - - ORC4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1406A>T r.(?) p.(His469Leu) Unknown - VUS g.149226918A>T g.148469349A>T MBD5(NM_001378120.1):c.1406A>T (p.(His469Leu)) - MBD5_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1631C>T r.(?) p.(Ala544Val) Unknown - VUS g.149227143C>T g.148469574C>T - - MBD5_000065 - - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - F - Germany - - - - - 1 Andreas Laner
?/. 9 c.2035G>C r.(?) p.(Ala679Pro) Unknown - VUS g.149227547G>C g.148469978G>C - - MBD5_000076 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4058 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.2198C>T r.(?) p.(Ser733Phe) Unknown - likely benign g.149227710C>T g.148470141C>T MBD5(NM_001378120.1):c.2198C>T (p.(Ser733Phe)) - MBD5_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2452A>G r.(?) p.(Thr818Ala) Unknown - likely benign g.149227964A>G g.148470395A>G MBD5(NM_018328.4):c.2452A>G (p.(Thr818Ala)) - MBD5_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2522G>A r.(?) p.(Gly841Asp) Unknown - VUS g.149240682G>A g.148483113G>A MBD5(NM_018328.4):c.2522G>A (p.G841D) - MBD5_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2605G>A r.(?) p.(Val869Ile) Parent #1 - VUS g.149240765G>A g.148483196G>A - - MBD5_000020 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116207524 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.2605G>T r.(?) p.(Val869Phe) Unknown - VUS g.149240765G>T g.148483196G>T MBD5(NM_018328.4):c.2605G>T (p.(Val869Phe)) - MBD5_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2789A>C r.(?) p.(Gln930Pro) Unknown - likely benign g.149240949A>C g.148483380A>C MBD5(NM_018328.4):c.2789A>C (p.(Gln930Pro)) - MBD5_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3108G>T r.(?) p.(Leu1036Phe) Unknown - likely benign g.149241268G>T - MBD5(NM_001378120.1):c.3108G>T (p.(Leu1036Phe)) - ORC4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3559A>G r.(?) p.(Ile1187Val) Unknown - VUS g.149243325A>G g.148485756A>G MBD5(NM_018328.4):c.2860A>G (p.(Ile954Val)) - MBD5_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3642A>T r.(?) p.(Gln1214His) Unknown - VUS g.149243408A>T g.148485839A>T MBD5(NM_018328.4):c.2943A>T (p.Q981H, p.(Gln981His)) - MBD5_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3642A>T r.(?) p.(Gln1214His) Unknown - VUS g.149243408A>T g.148485839A>T MBD5(NM_018328.4):c.2943A>T (p.Q981H, p.(Gln981His)) - MBD5_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3743A>G r.(?) p.(Gln1248Arg) Parent #1 - VUS g.149243509A>G g.148485940A>G NM_018328.4:c.3044A>G - MBD5_000063 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143028540 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.3842C>T r.(?) p.(Thr1281Ile) Unknown - likely benign g.149247043C>T g.148489474C>T MBD5(NM_018328.4):c.3143C>T (p.(Thr1048Ile)) - MBD5_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3842C>T r.(?) p.(Thr1281Ile) Unknown - likely benign g.149247043C>T g.148489474C>T MBD5(NM_018328.4):c.3143C>T (p.(Thr1048Ile)) - MBD5_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4054G>T r.(?) p.(Ala1352Ser) Unknown - likely benign g.149247255G>T g.148489686G>T MBD5(NM_018328.5):c.3355G>T (p.A1119S) - MBD5_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4139G>A r.(?) p.(Arg1380Gln) Unknown - likely benign g.149247340G>A - MBD5(NM_018328.5):c.3440G>A (p.R1147Q) - ORC4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4397A>G r.(?) p.(Asn1466Ser) Unknown - likely benign g.149247598A>G g.148490029A>G MBD5(NM_018328.4):c.3698A>G (p.(Asn1233Ser)) - MBD5_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4582C>A r.(?) p.(Pro1528Thr) Unknown - VUS g.149247783C>A g.148490214C>A MBD5(NM_018328.4):c.3883C>A (p.(Pro1295Thr)) - MBD5_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4858G>A r.(?) p.(Asp1620Asn) Unknown - likely benign g.149248059G>A - MBD5(NM_001378120.1):c.4858G>A (p.(Asp1620Asn)) - ORC4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4970C>A r.(?) p.(Pro1657His) Unknown - likely benign g.149260012C>A g.148502443C>A MBD5(NM_001378120.1):c.4970C>A (p.(Pro1657His)) - MBD5_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5097C>A r.(?) p.(Asp1699Glu) Unknown - VUS g.149267689C>A g.148510120C>A MBD5(NM_018328.4):c.4398C>A (p.(Asp1466Glu)) - MBD5_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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