Full data view for gene KDM4B

Information The variants shown are described using the NM_015015.2 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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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     
-?/. - c.-3725_-3724dup r.(?) p.(=) Unknown - likely benign g.4965625_4965626dup - KDM4B(NM_015015.3):c.-3725_-3724dup - KDM4B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-25-305C>T r.(=) p.(=) Unknown - likely benign g.5032572C>T - KDM4B(NM_015015.3):c.-25-305C>T - KDM4B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.162G>A r.(?) p.(Trp54*) Unknown - VUS g.5039867G>A - KDM4B(NM_015015.3):c.162G>A (p.W54*) - KDM4B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231G>A r.(?) p.(Thr77=) Unknown - likely benign g.5039936G>A g.5039925G>A KDM4B(NM_015015.3):c.231G>A (p.T77=) - KDM4B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.288C>T r.287_317del p.Glu97Thrfs∗66 Unknown - pathogenic (dominant) g.5039993C>T g.5039982C>T - - KDM4B_000016 - PubMed: Duncan 2020, Journal: Duncan 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat4 PubMed: Duncan 2020, Journal: Duncan 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.371_374del r.(?) p.(Lys124Thrfs*48) Unknown - pathogenic (dominant) g.5041201_5041204del g.5041190_5041193del - - KDM4B_000017 - PubMed: Duncan 2020, Journal: Duncan 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat8 PubMed: Duncan 2020, Journal: Duncan 2020 2-generation family, 1 affected, mother and father with mild learning disabilities M - France - - - - - 1 Johan den Dunnen
+?/. - c.432+1G>A r.spl? p.? Unknown - likely pathogenic g.5041263G>A - KDM4B(NM_015015.3):c.432+1G>A - KDM4B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.432+1G>C r.spl? p.? Unknown - VUS g.5041263G>C - KDM4B(NM_015015.3):c.432+1G>C - KDM4B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.433-9G>A r.(=) p.(=) Unknown - likely benign g.5047478G>A - KDM4B(NM_015015.3):c.433-9G>A - KDM4B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.433-4A>G r.spl? p.? Unknown - likely benign g.5047483A>G g.5047472A>G KDM4B(NM_015015.3):c.433-4A>G - KDM4B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.433-4A>G r.spl? p.? Unknown - likely benign g.5047483A>G - KDM4B(NM_015015.3):c.433-4A>G - KDM4B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.455G>C r.(?) p.(Gly152Ala) Unknown - VUS g.5047509G>C - KDM4B(NM_015015.3):c.455G>C (p.G152A) - KDM4B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.659T>C r.(?) p.(Leu220Pro) Unknown - VUS g.5071053T>C g.5071042T>C KDM4B(NM_015015.3):c.659T>C (p.L220P) - KDM4B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.659T>C r.(?) p.(Leu220Pro) Unknown - pathogenic (dominant) g.5071053T>C g.5071042T>C - - KDM4B_000003 - PubMed: Duncan 2020, Journal: Duncan 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat3 PubMed: Duncan 2020, Journal: Duncan 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Netherlands Middle East - - - - 1 Johan den Dunnen
-?/. - c.664C>A r.(?) p.(Arg222=) Unknown - likely benign g.5071058C>A g.5071047C>A KDM4B(NM_015015.3):c.664C>A (p.R222=) - KDM4B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.664C>T r.(?) p.(Arg222Trp) Unknown - pathogenic (dominant) g.5071058C>T g.5071047C>T - - KDM4B_000018 - PubMed: Duncan 2020, Journal: Duncan 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 PubMed: Duncan 2020, Journal: Duncan 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada - - - - - 1 Johan den Dunnen
?/. - c.865T>C r.(?) p.(Ser289Pro) Unknown - VUS g.5082462T>C - - - KDM4B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.882C>A r.(?) p.(Thr294=) Unknown - likely benign g.5082479C>A g.5082468C>A KDM4B(NM_015015.3):c.882C>A (p.T294=) - KDM4B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.900C>T r.(?) p.(Tyr300=) Unknown - likely benign g.5082497C>T g.5082486C>T KDM4B(NM_015015.3):c.900C>T (p.Y300=) - KDM4B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.919-8508T>C r.(=) p.(=) Unknown - VUS g.5102125T>C g.5102114T>C - - KDM4B_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.919-5C>T r.spl? p.? Unknown - likely benign g.5110628C>T - KDM4B(NM_015015.3):c.919-5C>T - KDM4B_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.953T>C r.(?) p.(Met318Thr) Unknown - VUS g.5110667T>C - KDM4B(NM_015015.2):c.953T>C (p.(Met318Thr)) - KDM4B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1084C>T r.(?) p.(Arg362Trp) Unknown - VUS g.5110798C>T - KDM4B(NM_015015.3):c.1084C>T (p.R362W) - KDM4B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1099G>A r.(?) p.(Ala367Thr) Unknown - VUS g.5110813G>A - KDM4B(NM_015015.2):c.1099G>A (p.(Ala367Thr)) - KDM4B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1115+558del r.(=) p.(=) Unknown - likely benign g.5111387del - KDM4B(NM_015015.3):c.1115+558delA - KDM4B_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1115+721G>A r.(=) p.(=) Unknown - likely benign g.5111550G>A - KDM4B(NM_001370093.1):c.1280G>A (p.(Ser427Asn)) - KDM4B_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1115+958C>G r.(=) p.(=) Unknown - likely benign g.5111787C>G - KDM4B(NM_001370094.1):c.1117C>G (p.(Pro373Ala)) - KDM4B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1115+1001C>G r.(=) p.(=) Unknown - likely benign g.5111830C>G - KDM4B(NM_001370094.1):c.1160C>G (p.(Ser387Ter)) - KDM4B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1115+1112C>T r.(=) p.(=) Unknown - VUS g.5111941C>T - KDM4B(NM_001370094.1):c.1271C>T (p.(Thr424Met)) - KDM4B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1148C>T r.(?) p.(Pro383Leu) Unknown - VUS g.5119696C>T - KDM4B(NM_015015.3):c.1148C>T (p.P383L) - KDM4B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1183A>T r.(?) p.(Thr395Ser) Unknown - VUS g.5119731A>T - KDM4B(NM_015015.2):c.1183A>T (p.(Thr395Ser)) - KDM4B_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1270_1272dup r.(?) p.(Glu424dup) Unknown - VUS g.5119818_5119820dup g.5119807_5119809dup KDM4B(NM_015015.3):c.1270_1272dupGAG (p.E424dup) - KDM4B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1334_1337dup r.(?) p.(Pro447Alafs*62) Unknown - VUS g.5131105_5131108dup - - - KDM4B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1352A>C r.(?) p.(Lys451Thr) Unknown - likely benign g.5131123A>C - KDM4B(NM_015015.2):c.1352A>C (p.(Lys451Thr)) - KDM4B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1401_1402insGGG r.(?) p.(Pro467_Pro468insGly) Unknown - likely benign g.5131172_5131173insGGG - KDM4B(NM_015015.3):c.1401_1402insGGG (p.(Pro467_Pro468insGly)) - KDM4B_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1453C>G r.(?) p.(Leu485Val) Unknown - likely benign g.5131224C>G - KDM4B(NM_015015.2):c.1453C>G (p.(Leu485Val)) - KDM4B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1454T>C r.(?) p.(Leu485Pro) Unknown - likely benign g.5131225T>C - KDM4B(NM_015015.2):c.1454T>C (p.(Leu485Pro)) - KDM4B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1463C>T r.(?) p.(Pro488Leu) Unknown - likely benign g.5131234C>T - KDM4B(NM_015015.2):c.1463C>T (p.(Pro488Leu)) - KDM4B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1525G>A r.(?) p.(Val509Met) Unknown - likely benign g.5131296G>A - KDM4B(NM_015015.2):c.1525G>A (p.(Val509Met)) - KDM4B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1598C>T r.(?) p.(Pro533Leu) Unknown - likely benign g.5131369C>T - KDM4B(NM_015015.3):c.1598C>T (p.P533L) - KDM4B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1640G>A r.(?) p.(Cys547Tyr) Unknown - likely benign g.5131411G>A - KDM4B(NM_015015.2):c.1640G>A (p.(Cys547Tyr)) - KDM4B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1750C>T r.(?) p.(Arg584Cys) Unknown - VUS g.5131521C>T - KDM4B(NM_015015.3):c.1750C>T (p.R584C) - KDM4B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1778_1779del r.(?) p.(Glu593Glyfs*41) Paternal (confirmed) - pathogenic (dominant) g.5131549_5131550del g.5131538_5131539del - - KDM4B_000019 - PubMed: Duncan 2020, Journal: Duncan 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat6 PubMed: Duncan 2020, Journal: Duncan 2020 2-generation family, 1 affected, father with learning disabilities F - France - - - - - 1 Johan den Dunnen
?/. - c.1838A>G r.(?) p.(His613Arg) Unknown - VUS g.5131950A>G - KDM4B(NM_015015.2):c.1838A>G (p.(His613Arg)) - KDM4B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1850G>A r.(?) p.(Arg617Gln) Unknown - likely benign g.5131962G>A - KDM4B(NM_015015.3):c.1850G>A (p.R617Q) - KDM4B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1906+7G>C r.(=) p.(=) Unknown - likely benign g.5132025G>C - KDM4B(NM_015015.3):c.1906+7G>C - KDM4B_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1907-1G>C r.spl p.? Maternal (confirmed) - pathogenic (dominant) g.5133893G>C g.5133882G>C - - KDM4B_000020 - PubMed: Duncan 2020, Journal: Duncan 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat9 PubMed: Duncan 2020, Journal: Duncan 2020 2-generation family, 1 affected, mother with a similar phenotype M - France - - - - - 1 Johan den Dunnen
-?/. - c.2092C>A r.(?) p.(Gln698Lys) Unknown - likely benign g.5135356C>A - KDM4B(NM_015015.2):c.2092C>A (p.(Gln698Lys)) - KDM4B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2221dup r.(?) p.(Glu741Glyfs*41) Unknown - pathogenic (dominant) g.5135485dup g.5135474dup - - KDM4B_000021 - PubMed: Duncan 2020, Journal: Duncan 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat5 PubMed: Duncan 2020, Journal: Duncan 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - 1 Johan den Dunnen
?/. - c.2278T>A r.(?) p.(Cys760Ser) Unknown - VUS g.5135542T>A - KDM4B(NM_015015.2):c.2278T>A (p.(Cys760Ser)) - KDM4B_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2303A>G r.(?) p.(His768Arg) Unknown - pathogenic (dominant) g.5135567A>G g.5135556A>G - - KDM4B_000022 - PubMed: Duncan 2020, Journal: Duncan 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Duncan 2020, Journal: Duncan 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
?/. - c.2360G>C r.(?) p.(Arg787Pro) Unknown - VUS g.5137324G>C - - - KDM4B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2555_2560del r.(?) p.(Cys852_Val853del) Unknown - VUS g.5143982_5143987del - KDM4B(NM_015015.2):c.2555_2560delGCGTGT (p.(Cys852_Val853del)) - KDM4B_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2566C>T r.(?) p.(Arg856Trp) Unknown - VUS g.5143993C>T - KDM4B(NM_015015.3):c.2566C>T (p.(Arg856Trp)) - KDM4B_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2716C>T r.(?) p.(His906Tyr) Unknown - VUS g.5144143C>T - KDM4B(NM_015015.3):c.2716C>T (p.(His906Tyr)) - KDM4B_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2734G>A r.(?) p.(Ala912Thr) Unknown - likely benign g.5144161G>A g.5144150G>A KDM4B(NM_015015.3):c.2734G>A (p.A912T) - KDM4B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2793C>T r.(?) p.(Asn931=) Unknown - likely benign g.5144315C>T g.5144304C>T KDM4B(NM_015015.3):c.2793C>T (p.N931=) - KDM4B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2831C>T r.(?) p.(Ser944Leu) Unknown - VUS g.5144353C>T g.5144342C>T KDM4B(NM_015015.3):c.2831C>T (p.S944L) - KDM4B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2875G>A r.(?) p.(Asp959Asn) Unknown - likely benign g.5144397G>A - KDM4B(NM_015015.3):c.2875G>A (p.(Asp959Asn)) - KDM4B_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3000C>T r.(?) p.(Ser1000=) Unknown - likely benign g.5144892C>T g.5144881C>T KDM4B(NM_015015.3):c.3000C>T (p.S1000=) - KDM4B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3001G>A r.(?) p.(Val1001Ile) Unknown - likely benign g.5144893G>A - KDM4B(NM_015015.2):c.3001G>A (p.(Val1001Ile)) - KDM4B_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3101T>C r.(?) p.(Val1034Ala) Unknown - VUS g.5150448T>C - KDM4B(NM_015015.3):c.3101T>C (p.V1034A) - KDM4B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3103C>T r.(?) p.(Arg1035Cys) Unknown - VUS g.5150450C>T - KDM4B(NM_015015.3):c.3103C>T (p.R1035C) - KDM4B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3125C>T r.(?) p.(Thr1042Met) Unknown - VUS g.5151356C>T g.5151345C>T KDM4B(NM_015015.3):c.3125C>T (p.T1042M) - KDM4B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3164C>T r.(?) p.(Ala1055Val) Unknown - likely benign g.5151395C>T g.5151384C>T KDM4B(NM_015015.3):c.3164C>T (p.A1055V) - KDM4B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3172G>A r.(?) p.(Ala1058Thr) Unknown - likely benign g.5151403G>A - KDM4B(NM_015015.2):c.3172G>A (p.(Ala1058Thr)) - KDM4B_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3284C>T r.(?) p.(Pro1095Leu) Unknown - pathogenic (dominant) g.5151515C>T g.5151504C>T - - KDM4B_000023 - PubMed: Duncan 2020, Journal: Duncan 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat1 PubMed: Duncan 2020, Journal: Duncan 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - 1 Johan den Dunnen
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