Full data view for gene KDM2B

Information The variants shown are described using the NM_032590.4 transcript reference sequence.

80 entries on 1 page. Showing entries 1 - 80.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Age at death     

VIP     

Data_av     

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Owner     
?/. - c.(?_-110474)_(*718900_?)del r.0 p.0 Paternal (confirmed) - pathogenic (dominant) g.(?_121149191)_(122129290_?)del g.(?_120711388)_(121691385_?)del hg18? del 119633574-120613673 - KDM2B_000046 980kb deletion incl. KDM2B, HNF1A PubMed: Chouery 2013, PubMed: Krzyzewska 2019, PubMed: Van Jaarsveld 2023 - - Germline - - - - KDM2B methylation signature; no SETD1B methylation signature DNA SEQ, SEQ-NG - arraySNP NDD patient;Pat8;KDM2B_25.1 PubMed: Chouery 2013, PubMed: Krzyzewska 2019, PubMed: Van Jaarsveld 2023 2-generation family, affected daugther/father F - Lebanon - - - - - 1 Johan den Dunnen
?/. - c.(?_-110474)_(*718900_?)del r.0 p.0 Unknown - pathogenic (dominant) g.(?_121149191)_(122129290_?)del g.(?_120711388)_(121691385_?)del hg18? del 119633574-120613673 - KDM2B_000046 980kb deletion incl. KDM2B, HNF1A PubMed: Chouery 2013, PubMed: Krzyzewska 2019, PubMed: Van Jaarsveld 2023 - - Germline/De novo (untested) - - - - KDM2B methylation signature DNA SEQ, SEQ-NG - arraySNP NDD father;KDM2B_25.2 PubMed: Chouery 2013, PubMed: Krzyzewska 2019, PubMed: Van Jaarsveld 2023 father M - Lebanon - - - - - 1 Johan den Dunnen
+/. - c.(?_-290109)_(*1125403_?)del r.0 p.0 Unknown - pathogenic (dominant) g.(?_120742688)_(122308925_?)del g.(?_120304885)_(121871020_?)del hg19? 12q24.31 120742688-122308925del - KDM2B_000045 1.6Mb deletion incl. 27 genes PubMed: Qiao 2013, PubMed: Krzyzewska 2019, PubMed: Van Jaarsveld 2023 - - De novo - - - - KDM2B methylation signature; SETD1B methylation signature DNA SEQ, SEQ-NG - SNParray NDD 09-99A;Pat11;KDM2B_33 PubMed: Qiao 2013, PubMed: Krzyzewska 2019, PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.(?_-386388)_(*29273_?)del r.0 p.0 Unknown - pathogenic (dominant) g.(121814901_121838818)_(122405204_122423659)del g.(121377098_121401015)_(121967299_121985754)del - - KDM2B_000047 12q24.31 deletion incl. KDM2B, SETD1B PubMed: Krzyzewska 2019, PubMed: Van Jaarsveld 2023 - - De novo - - - - KDM2B methylation signature; SETD1B methylation signature DNA SEQ, SEQ-NG - - NDD Pat9;KDM2B_29 PubMed: Krzyzewska 2019, PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. _1_13i c.(?_-104)_(1959+1_1960-1)del r.0 p.0 Unknown - pathogenic (dominant) g.(121883222_121890922)_(122285014_122326361)del g.(121445419_121453119)_(121847108_121888455)del - - KDM2B_000055 360kb deletion incl. KDM2B, ORAI1 , MORN3, TMEM120B, RHOF, SETD1B, MIR548AQ, LINC01089 PubMed: Labonne 2016, PubMed: Krzyzewska 2019, PubMed: Van Jaarsveld 2023 - - De novo - - - - KDM2B methylation signature; SETD1B methylation signature DNA SEQ, SEQ-NG - SNParray NDD DGDP343;Pat10;KDM2B_30 PubMed: Labonne 2016, PubMed: Krzyzewska 2019, PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Korea - - - - - 1 Johan den Dunnen
?/. - c.46C>T r.(?) p.(Arg16*) Unknown - VUS g.122018771G>A - KDM2B(NM_032590.4):c.46C>T (p.(Arg16*)) - KDM2B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.56A>G r.(?) p.(His19Arg) Unknown - likely benign g.122018761T>C g.121580856T>C KDM2B(NM_032590.4):c.56A>G (p.H19R) - KDM2B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.83_84del r.(?) p.(Thr28Serfs*8) Unknown - likely benign g.122018734_122018735del - KDM2B(NM_032590.5):c.83_84delCA (p.T28Sfs*8) - KDM2B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83_84del r.(?) p.(Thr28SerfsTer8) Both (homozygous) - VUS g.122018734_122018735del g.121580829_121580830del 83_84delCA - KDM2B_000014 - PubMed: Dinckan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD patient PubMed: Dinckan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.284A>C r.(?) p.(Glu95Ala) Unknown - VUS g.122013752T>G - KDM2B(NM_032590.5):c.284A>C (p.E95A) - KDM2B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.446C>T r.(?) p.(Thr149Met) Unknown - likely benign g.121987495G>A - KDM2B(NM_032590.5):c.446C>T (p.(Thr149Met)) - KDM2B_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.457del r.(?) p.(Met153CysfsTer24) Unknown - pathogenic (dominant) g.121987484del g.121549579del 457delA - KDM2B_000067 - PubMed: Van Jaarsveld 2023 - - De novo - - - - KDM2B methylation signature DNA SEQ, SEQ-NG - WES NDD KDM2B_10 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.499C>T r.(?) p.(Arg167Trp) Unknown - VUS g.121987442G>A g.121549537G>A - - KDM2B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.499C>T r.(?) p.(Arg167Trp) Unknown - pathogenic (dominant) g.121987442G>A g.121549537G>A - - KDM2B_000007 - PubMed: Van Jaarsveld 2023 - - De novo - - - - KDM2B methylation signature DNA SEQ, SEQ-NG - trio WES NDD KDM2B_6 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.602A>G r.(?) p.(Asn201Ser) Unknown - VUS g.121986863T>C - KDM2B(NM_032590.5):c.602A>G (p.N201S) - KDM2B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.683+3A>G r.spl? p.? Unknown - likely benign g.121986779T>C - KDM2B(NM_032590.5):c.683+3A>G - KDM2B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.777+5G>A r.spl? p.? Unknown - VUS g.121972397C>T g.121534492C>T - - KDM2B_000066 - PubMed: Van Jaarsveld 2023 - - De novo - - - - no KDM2B methylation signature DNA SEQ, SEQ-NG - trio WES NDD KDM2B_19 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.930C>T r.(?) p.(=) Unknown - likely benign g.121970712G>A - KDM2B(NM_032590.5):c.930C>T (p.(Ser310=)) - KDM2B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.932-5C>G r.spl? p.? Unknown - likely benign g.121958908G>C - KDM2B(NM_032590.5):c.932-5C>G - KDM2B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.946G>A r.(?) p.(Val316Ile) Paternal (confirmed) - pathogenic (dominant) g.121958889C>T g.121521086C>T - - KDM2B_000065 - PubMed: Van Jaarsveld 2023 - - Germline - - - - KDM2B methylation signature DNA SEQ, SEQ-NG - trio WES NDD KDM2B_4.1 PubMed: Van Jaarsveld 2023 2-generation family, affected son/sister/father M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.946G>A r.(?) p.(Val316Ile) Unknown - pathogenic (dominant) g.121958889C>T g.121521086C>T - - KDM2B_000065 - PubMed: Van Jaarsveld 2023 - - Germline/De novo (untested) - - - - KDM2B methylation signature DNA SEQ, SEQ-NG - trio WES NDD KDM2B_4.2 PubMed: Van Jaarsveld 2023 father M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.946G>A r.(?) p.(Val316Ile) Paternal (confirmed) - pathogenic (dominant) g.121958889C>T g.121521086C>T - - KDM2B_000065 - PubMed: Van Jaarsveld 2023 - - Germline - - - - KDM2B methylation signature DNA SEQ - - NDD KDM2B_4.3 PubMed: Van Jaarsveld 2023 sister F - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.991C>A r.(?) p.(His331Asn) Paternal (confirmed) ACMG likely pathogenic g.121958844G>T g.121521041G>T - - KDM2B_000010 no possible causative variants identified in other genes PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
?/. - c.1039A>T r.(?) p.(Arg347Trp) Unknown - VUS g.121958796T>A - - - KDM2B_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1048-3092del r.spl? p.? Both (homozygous) ACMG likely benign g.121954297del g.121516494del - - KDM2B_000009 causative variant identified in GNAS PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
-?/. - c.1048-5T>C r.spl? p.? Unknown - likely benign g.121951210A>G - KDM2B(NM_032590.5):c.1048-5T>C - KDM2B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1244G>A r.(?) p.(Cys415Tyr) Unknown - VUS g.121947773C>T g.121509970C>T - - KDM2B_000064 - PubMed: Monies 2017, PubMed: Van Jaarsveld 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD KDM2B_12 PubMed: Monies 2017, PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.1292_1297dup r.(?) p.(Gly431_Arg432dup) Unknown - VUS g.121947722_121947727dup - KDM2B(NM_032590.5):c.1292_1297dup (p.(Gly431_Arg432dup)) - KDM2B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1405C>T r.(?) p.(Leu469Phe) Unknown - likely benign g.121947612G>A - KDM2B(NM_032590.4):c.1405C>T (p.(Leu469Phe)) - KDM2B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1468T>C r.(?) p.(Tyr490His) Unknown - VUS g.121947549A>G - KDM2B(NM_032590.5):c.1468T>C (p.(Tyr490His)) - KDM2B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1501G>C r.(?) p.(Glu501Gln) Unknown - VUS g.121947516C>G - KDM2B(NM_032590.5):c.1501G>C (p.E501Q) - KDM2B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1627G>A r.(?) p.(Ala543Thr) Unknown - VUS g.121947390C>T g.121509587C>T - - KDM2B_000063 - PubMed: Van Jaarsveld 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD KDM2B_17 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1829G>C r.(?) p.(Arg610Pro) Unknown - VUS g.121891053C>G g.121453250C>G - - KDM2B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1838G>A r.(?) p.(Cys613Tyr) Unknown - VUS g.121891044C>T - KDM2B(NM_032590.4):c.1838G>A (p.C613Y) - KDM2B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1846T>C r.(?) p.(Cys616Arg) Unknown - pathogenic (dominant) g.121891036A>G g.121453233A>G - - KDM2B_000062 - PubMed: Van Jaarsveld 2023 - - De novo - - - - KDM2B methylation signature DNA SEQ, SEQ-NG - trio WES NDD KDM2B_22 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1847G>A r.(?) p.(Cys616Tyr) Unknown - pathogenic (dominant) g.121891035C>T g.121453232C>T - - KDM2B_000061 - PubMed: Van Jaarsveld 2023 - - De novo - - - - KDM2B methylation signature DNA SEQ, SEQ-NG - WES NDD KDM2B_18 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1847G>A r.(?) p.(Cys616Tyr) Unknown - pathogenic (dominant) g.121891035C>T g.121453232C>T - - KDM2B_000061 - PubMed: Van Jaarsveld 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD KDM2B_31 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1880G>A r.(?) p.(Cys627Tyr) Unknown - pathogenic (dominant) g.121891002C>T g.121453199C>T - - KDM2B_000060 - PubMed: Van Jaarsveld 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD KDM2B_8 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1889G>C r.(?) p.(Cys630Ser) Unknown - pathogenic (dominant) g.121890993C>G g.121453190C>G - - KDM2B_000059 - PubMed: Van Jaarsveld 2023 - - De novo - - - - KDM2B methylation signature DNA SEQ, SEQ-NG - WES NDD KDM2B_23 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1894G>T r.(?) p.(Asp632Tyr) Unknown - VUS g.121890988C>A g.121453185C>A - - KDM2B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1894G>T r.(?) p.(Asp632Tyr) Unknown - pathogenic (dominant) g.121890988C>A g.121453185C>A - - KDM2B_000006 - PubMed: Van Jaarsveld 2023 - - De novo - - - - KDM2B methylation signature DNA SEQ, SEQ-NG - trio WES NDD KDM2B_7 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.1903_1905del r.(?) p.(Lys635del) Unknown - likely pathogenic (dominant) g.121890981_121890983del g.121453178_121453180del 1903_1905delAAG - KDM2B_000058 - PubMed: Van Jaarsveld 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD KDM2B_13 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1912G>A r.(?) p.(Gly638Ser) Unknown - pathogenic (dominant) g.121890970C>T g.121453167C>T - - KDM2B_000057 - PubMed: Van Jaarsveld 2023 - - De novo - - - - KDM2B methylation signature DNA SEQ, SEQ-NG - trio WES NDD KDM2B_1 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1913G>A r.(?) p.(Gly638Asp) Unknown - pathogenic (dominant) g.121890969C>T g.121453166C>T - - KDM2B_000056 - PubMed: Van Jaarsveld 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD KDM2B_20 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1954A>G r.(?) p.(Ile652Val) Maternal (confirmed) - VUS g.121890928T>C g.121453125T>C - - KDM2B_000044 - PubMed: Van Jaarsveld 2023 - - Germline - - - - no KDM2B methylation signature DNA SEQ, SEQ-NG - trio WES NDD KDM2B_5.1 PubMed: Van Jaarsveld 2023 2-generation family, affected son/mother M - - - - - - - 1 Johan den Dunnen
?/. - c.1954A>G r.(?) p.(Ile652Val) Parent #1 - VUS g.121890928T>C g.121453125T>C - - KDM2B_000044 - PubMed: Van Jaarsveld 2023 - - Germline/De novo (untested) - - - - no KDM2B methylation signature DNA SEQ, SEQ-NG - trio WES NDD KDM2B_5.2 PubMed: Van Jaarsveld 2023 mother F - - - - - - - 1 Johan den Dunnen
+/. - c.2173G>A r.(?) p.(Ala725Thr) Maternal (confirmed) - pathogenic (dominant) g.121882270C>T g.121444467C>T - - KDM2B_000054 - PubMed: Yokotsuka-Ishida 2021, PubMed: Van Jaarsveld 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatIV9;KDM2B_24.1 PubMed: Yokotsuka-Ishida 2021, PubMed: Van Jaarsveld 2023 4-generation family, 3 affected sibs/mother F - Japan - - - - - 1 Johan den Dunnen
+/. - c.2173G>A r.(?) p.(Ala725Thr) Unknown - pathogenic (dominant) g.121882270C>T g.121444467C>T - - KDM2B_000054 - PubMed: Yokotsuka-Ishida 2021, PubMed: Van Jaarsveld 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD FamPatIII4;KDM2B_24.2 PubMed: Yokotsuka-Ishida 2021, PubMed: Van Jaarsveld 2023 mother F - Japan - - - - - 1 Johan den Dunnen
+/. - c.2173G>A r.(?) p.(Ala725Thr) Maternal (confirmed) - pathogenic (dominant) g.121882270C>T g.121444467C>T - - KDM2B_000054 - PubMed: Yokotsuka-Ishida 2021, PubMed: Van Jaarsveld 2023 - - Germline - - - - - DNA SEQ - - NDD FamPatIV5;KDM2B_24.3 PubMed: Yokotsuka-Ishida 2021, PubMed: Van Jaarsveld 2023 older sister F - Japan - - - - - 1 Johan den Dunnen
+/. - c.2173G>A r.(?) p.(Ala725Thr) Maternal (confirmed) - pathogenic (dominant) g.121882270C>T g.121444467C>T - - KDM2B_000054 - PubMed: Yokotsuka-Ishida 2021, PubMed: Van Jaarsveld 2023 - - Germline - - - - - DNA SEQ - - NDD FamPatIV8;KDM2B_24.4 PubMed: Yokotsuka-Ishida 2021, PubMed: Van Jaarsveld 2023 older brother M - Japan - - - - - 1 Johan den Dunnen
?/. - c.2233G>A r.(?) p.(Gly745Ser) Unknown - VUS g.121882033C>T g.121444230C>T - - KDM2B_000053 - PubMed: Girard 2011, PubMed: Van Jaarsveld 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD SCZ1001;KDM2B_34 PubMed: Girard 2011, PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents - - Canada - - - - - 1 Johan den Dunnen
-?/. - c.2241G>C r.(?) p.(=) Unknown - likely benign g.121882025C>G - KDM2B(NM_032590.5):c.2241G>C (p.(Leu747=)) - KDM2B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2297G>A r.(?) p.(Arg766Gln) Unknown - VUS g.121881969C>T g.121444166C>T - - KDM2B_000052 - PubMed: Van Jaarsveld 2023 - - De novo - - - - no KDM2B methylation signature DNA SEQ, SEQ-NG - trio WES NDD KDM2B_2 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.2326C>T r.(?) p.(Arg776Cys) Unknown - likely benign g.121881940G>A - KDM2B(NM_032590.5):c.2326C>T (p.(Arg776Cys)) - KDM2B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2339A>T r.(?) p.(Glu780Val) Unknown - VUS g.121881927T>A g.121444124T>A - - KDM2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2345C>T r.(?) p.(Ser782Leu) Unknown - VUS g.121881921G>A - - - KDM2B_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2350_2352del r.(?) p.(Lys784del) Unknown - likely benign g.121881918_121881920del - KDM2B(NM_032590.4):c.2350_2352delAAG (p.(Lys784del)) - KDM2B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2360C>T r.(?) p.(Pro787Leu) Unknown - likely benign g.121881906G>A - KDM2B(NM_032590.5):c.2360C>T (p.(Pro787Leu)) - KDM2B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2582A>C r.(?) p.(Glu861Ala) Unknown - likely benign g.121880817T>G - KDM2B(NM_032590.4):c.2582A>C (p.(Glu861Ala)) - KDM2B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2705C>G r.(?) p.(Pro902Arg) Unknown - VUS g.121880539G>C - KDM2B(NM_032590.5):c.2705C>G (p.P902R) - KDM2B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2783A>T r.(?) p.(Glu928Val) Unknown - likely benign g.121880461T>A - KDM2B(NM_032590.5):c.2783A>T (p.E928V) - KDM2B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2794_2796del r.(?) p.(Lys932del) Unknown - likely benign g.121880456_121880458del - KDM2B(NM_032590.5):c.2794_2796del (p.(Lys932del)) - KDM2B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2840G>A r.(?) p.(Ser947Asn) Unknown - VUS g.121880404C>T - - - KDM2B_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2866C>T r.(?) p.(His956Tyr) Unknown - likely benign g.121880378G>A - KDM2B(NM_032590.4):c.2866C>T (p.(His956Tyr)) - KDM2B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3005_3023del r.(?) p.(Asn1002SerfsTer35) Unknown - pathogenic (dominant) g.121880221_121880239del g.121442418_121442436del 3005_3023del19 - KDM2B_000050 - PubMed: Van Jaarsveld 2023 - - De novo - - - - KDM2B methylation signature DNA SEQ, SEQ-NG - trio WES NDD KDM2B_11 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.3007G>A r.(?) p.(Gly1003Ser) Unknown - VUS g.121880237C>T g.121442434C>T - - KDM2B_000051 - PubMed: Yokotsuka-Ishida 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - NDD patient PubMed: Yokotsuka-Ishida 2021 patient - - Japan - - - - - 1 Johan den Dunnen
?/. - c.3050G>A r.(?) p.(Arg1017His) Both (homozygous) - VUS g.121880194C>T g.121442391C>T - - KDM2B_000037 ACMG PM2, PP1, PP3; candidate disease gene PubMed: Charng 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam009PatBAB6693 PubMed: Charng 2016 2-generation family, affected brother/sister F;M yes Saudi Arabia - - - - - 2 Johan den Dunnen
-?/. - c.3073C>T r.(?) p.(Arg1025Trp) Unknown - likely benign g.121880171G>A - KDM2B(NM_032590.4):c.3073C>T (p.(Arg1025Trp)) - KDM2B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3130C>T r.(?) p.(Arg1044Trp) Unknown - likely benign g.121880114G>A - KDM2B(NM_032590.4):c.3130C>T (p.(Arg1044Trp)) - KDM2B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3370C>T r.(?) p.(Arg1124Ter) Paternal (confirmed) - pathogenic (dominant) g.121878951G>A g.121441148G>A - - KDM2B_000049 - PubMed: Van Jaarsveld 2023 - - Germline - - - - KDM2B methylation signature DNA SEQ, SEQ-NG - trio WES NDD KDM2B_3.1 PubMed: Van Jaarsveld 2023 2-generation family, affected daugther/father F - - - - - - - 1 Johan den Dunnen
+/. - c.3370C>T r.(?) p.(Arg1124Ter) Unknown - pathogenic (dominant) g.121878951G>A g.121441148G>A - - KDM2B_000049 - PubMed: Van Jaarsveld 2023 - - Germline/De novo (untested) - - - - KDM2B methylation signature DNA SEQ, SEQ-NG - trio WES NDD KDM2B_3.2 PubMed: Van Jaarsveld 2023 father M - - - - - - - 1 Johan den Dunnen
-?/. - c.3449-3dup r.spl? p.? Unknown - likely benign g.121878788dup - KDM2B(NM_032590.5):c.3449-3dup - KDM2B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3574C>T r.(?) p.(Arg1192Trp) Unknown - likely benign g.121878655G>A - KDM2B(NM_032590.5):c.3574C>T (p.(Arg1192Trp)) - KDM2B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3590C>T r.(?) p.(Pro1197Leu) Unknown - VUS g.121878639G>A - KDM2B(NM_032590.5):c.3590C>T (p.P1197L) - KDM2B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3637C>T r.(?) p.(Arg1213Trp) Unknown - VUS g.121877852G>A g.121440049G>A - - KDM2B_000048 - PubMed: Van Jaarsveld 2023 - - De novo - - - - no KDM2B methylation signature DNA SEQ, SEQ-NG - trio WES NDD KDM2B_14 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.3638G>C r.(?) p.(Arg1213Pro) Unknown - VUS g.121877851C>G - KDM2B(NM_032590.5):c.3638G>C (p.R1213P) - KDM2B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3704G>A r.(?) p.(Arg1235His) Unknown - VUS g.121877785C>T - KDM2B(NM_032590.4):c.3704G>A (p.(Arg1235His)) - KDM2B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3770A>G r.(?) p.(Asn1257Ser) Unknown - likely benign g.121877719T>C - KDM2B(NM_032590.4):c.3770A>G (p.(Asn1257Ser)) - KDM2B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3864C>G r.(?) p.(Phe1288Leu) Maternal (confirmed) - VUS g.121868238G>C g.121430435G>C - - KDM2B_000043 - PubMed: Van Jaarsveld 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD KDM2B_5.1 PubMed: Van Jaarsveld 2023 2-generation family, affected son/mother M - - - - - - - 1 Johan den Dunnen
?/. - c.3864C>G r.(?) p.(Phe1288Leu) Parent #1 - VUS g.121868238G>C g.121430435G>C - - KDM2B_000043 - PubMed: Van Jaarsveld 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - trio WES NDD KDM2B_5.2 PubMed: Van Jaarsveld 2023 mother F - - - - - - - 1 Johan den Dunnen
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