Full data view for gene KDM6B

Information The variants shown are described using the NM_001080424.1 transcript reference sequence.

251 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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.-268-8C>T r.(=) p.(=) Unknown - likely benign g.7748211C>T g.7844893C>T KDM6B(NM_001080424.2):c.-268-8C>T - KDM6B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.31del r.(?) p.(Arg11Alafs*12) Unknown ACMG likely pathogenic (dominant) g.7748903del g.7845585del - - KDM6B_000091 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - DNA SEQ-NG-I - - NEDCFSA 189768 - - F ? (Saudi Arabia) - - - - - 1 Andreas Laner
+/. - c.138-2A>G r.spl p.? Unknown - pathogenic (dominant) g.7749188A>G g.7845870A>G - - KDM6B_000124 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat53 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.138-1G>A r.spl p.? Unknown - pathogenic (dominant) g.7749189G>A g.7845871G>A - - KDM6B_000125 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat15 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.160C>T r.(?) p.(Pro54Ser) Unknown - likely benign g.7749212C>T - KDM6B(NM_001348716.2):c.160C>T (p.(Pro54Ser)) - KDM6B_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165G>A r.(?) p.(Pro55=) Unknown - likely benign g.7749217G>A g.7845899G>A KDM6B(NM_001080424.2):c.165G>A (p.P55=) - KDM6B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.225T>A r.(?) p.(Tyr75Ter) Unknown - pathogenic (dominant) g.7749277T>A g.7845959T>A - - KDM6B_000100 - PubMed: Stolerman 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 PubMed: Stolerman 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.283G>A r.(?) p.(Gly95Ser) Maternal (confirmed) - VUS g.7749442G>A g.7846124G>A - - KDM6B_000126 - PubMed: Rots 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat79 PubMed: Rots 2023 family, has affected mother, sister M - - - - - - - 1 Johan den Dunnen
+?/. - c.283G>A r.(?) p.(Gly95Ser) Maternal (confirmed) - VUS g.7749442G>A g.7846124G>A - - KDM6B_000126 - PubMed: Rots 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat80 PubMed: Rots 2023 family, has affected mother, brother F - - - - - - - 1 Johan den Dunnen
+?/. - c.283G>A r.(?) p.(Gly95Ser) Unknown - VUS g.7749442G>A g.7846124G>A - - KDM6B_000126 - PubMed: Rots 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat81 PubMed: Rots 2023 family, has affected son and daughter F - - - - - - - 1 Johan den Dunnen
+?/. - c.316C>T r.(?) p.(Gln106*) Unknown - likely pathogenic g.7749475C>T - KDM6B(NM_001080424.2):c.316C>T (p.Q106*) - KDM6B_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.343C>T r.(?) p.(Gln115Ter) Maternal (confirmed) - pathogenic (dominant) g.7749502C>T g.7846184C>T - - KDM6B_000127 - PubMed: Rots 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat60 PubMed: Rots 2023 - M - - - - - - - 1 Johan den Dunnen
+/. - c.403C>T r.(?) p.(Arg135Ter) Unknown - pathogenic (dominant) g.7749562C>T g.7846244C>T - - KDM6B_000128 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat8 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - 1 Johan den Dunnen
+/. - c.403C>T r.(?) p.(Arg135Ter) Unknown - pathogenic (dominant) g.7749562C>T g.7846244C>T - - KDM6B_000128 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat13 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives F - - - - - - - 1 Johan den Dunnen
+/. - c.403C>T r.(?) p.(Arg135Ter) Unknown - pathogenic (dominant) g.7749562C>T g.7846244C>T - - KDM6B_000128 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat61 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.419dup r.(?) p.(Ala141ArgfsTer2) Paternal (confirmed) - pathogenic (dominant) g.7749578dup g.7846260dup - - KDM6B_000129 - PubMed: Rots 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat32 PubMed: Rots 2023 family, heterozygous carrier father history of dyslexia, similarities to patient with respect to anxiety and behavioral rigidity; mother history of bicuspid aortic valve, aortic stenosis M - - - - - - - 2 Johan den Dunnen
?/. - c.445C>T r.(?) p.(Arg149Ter) Unknown - VUS g.7749604C>T g.7846286C>T KDM6B(NM_001080424.2):c.445C>T (p.R149*) - KDM6B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.445C>T r.(?) p.(Arg149Ter) Unknown - pathogenic (dominant) g.7749604C>T g.7846286C>T - - KDM6B_000002 - PubMed: Stolerman 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat11 PubMed: Stolerman 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.445C>T r.(?) p.(Arg149Ter) Unknown - pathogenic (dominant) g.7749604C>T g.7846286C>T - - KDM6B_000002 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat19 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - 1 Johan den Dunnen
-?/. - c.457-8A>C r.(=) p.(=) Unknown - likely benign g.7749710A>C g.7846392A>C KDM6B(NM_001080424.1):c.457-8A>C (p.(=)) - KDM6B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.457-2A>C r.spl? p.? Unknown - likely benign g.7749716A>C g.7846398A>C KDM6B(NM_001080424.1):c.457-2A>C (p.?) - KDM6B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.457-2_457del r.spl? p.? Unknown - likely benign g.7749716_7749718del g.7846398_7846400del KDM6B(NM_001080424.1):c.457-2_457del (p.?) - KDM6B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.496C>T r.(?) p.(Arg166Ter) Unknown - pathogenic (dominant) g.7749757C>T g.7846439C>T - - KDM6B_000130 - PubMed: Rots 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat31 PubMed: Rots 2023 family, has half brother ID; mother intellectual disability, epilepsy, diabetes, bipolar disorder; full brother, ID, aggressive behavior F - - - - - - - 1 Johan den Dunnen
-?/. - c.501C>G r.(?) p.(Ala167=) Unknown - likely benign g.7749762C>G g.7846444C>G KDM6B(NM_001080424.2):c.501C>G (p.A167=) - KDM6B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.523C>T r.(?) p.(Gln175Ter) Unknown - pathogenic (dominant) g.7749784C>T g.7846466C>T - - KDM6B_000131 father not available PubMed: Rots 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat16 PubMed: Rots 2023 2-generation family, unaffected non-carrier mother, no affected relatives M - - - - - - - 1 Johan den Dunnen
-?/. - c.549+6G>C r.(=) p.(=) Unknown - likely benign g.7749816G>C - KDM6B(NM_001080424.2):c.549+6G>C - KDM6B_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.567A>G r.(?) p.(Gly189=) Unknown - likely benign g.7749914A>G - KDM6B(NM_001080424.2):c.567A>G (p.G189=) - KDM6B_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.575G>C r.(?) p.(Arg192Pro) Unknown - VUS g.7749922G>C g.7846604G>C KDM6B(NM_001080424.2):c.575G>C (p.R192P) - KDM6B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.578del r.(?) p.(Gly193GlufsTer5) Unknown - pathogenic (dominant) g.7749925del g.7846607del - - KDM6B_000132 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat52 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.583C>G r.(?) p.(Pro195Ala) Unknown - likely benign g.7749930C>G - KDM6B(NM_001080424.1):c.583C>G (p.(Pro195Ala)) - KDM6B_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.596G>A r.(?) p.(Arg199Gln) Unknown - likely benign g.7749943G>A - KDM6B(NM_001080424.1):c.596G>A (p.(Arg199Gln)) - KDM6B_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.607C>G r.(?) p.(Pro203Ala) Unknown - likely benign g.7749954C>G g.7846636C>G KDM6B(NM_001080424.1):c.607C>G (p.(Pro203Ala)) - KDM6B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.625G>T r.(?) p.(Val209Leu) Unknown - likely benign g.7749972G>T g.7846654G>T KDM6B(NM_001080424.1):c.625G>T (p.(Val209Leu)), KDM6B(NM_001080424.2):c.625G>T (p.V209L) - KDM6B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.625G>T r.(?) p.(Val209Leu) Unknown - likely benign g.7749972G>T g.7846654G>T KDM6B(NM_001080424.1):c.625G>T (p.(Val209Leu)), KDM6B(NM_001080424.2):c.625G>T (p.V209L) - KDM6B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.625G>T r.(?) p.(Val209Leu) Both (homozygous) ACMG benign g.7749972G>T g.7846654G>T - - KDM6B_000004 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.654_655del r.(?) p.(Glu220GlyfsTer16) Unknown - VUS g.7750001_7750002del g.7846683_7846684del - - KDM6B_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.654_655del r.(?) p.(Glu220GlyfsTer16) Unknown - pathogenic (dominant) g.7750001_7750002del g.7846683_7846684del - - KDM6B_000069 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat3 PubMed: Rots 2023 2-generation family, 1 affected (beta-thalasemia carrier), unaffected non-carrier parents, no affected relatives M - - - - - - - 1 Johan den Dunnen
+/. - c.654_655del r.(?) p.(Glu220GlyfsTer16) Maternal (confirmed) - pathogenic (dominant) g.7750001_7750002del g.7846683_7846684del 654_655delAG - KDM6B_000069 - PubMed: Rots 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat25 PubMed: Rots 2023 - F - - - - - - - 1 Johan den Dunnen
?/. - c.680G>T r.(?) p.(Gly227Val) Unknown - VUS g.7750027G>T - KDM6B(NM_001080424.2):c.680G>T (p.G227V) - KDM6B_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.685C>T r.(?) p.(Arg229Ter) Unknown - pathogenic (dominant) g.7750032C>T g.7846714C>T - - KDM6B_000133 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat45 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, maternal grandfather has epilepsy (no learning difficulties), maternal uncle has mild learning difficulties M - - - - - - - 1 Johan den Dunnen
-?/. - c.711+7G>A r.(=) p.(=) Unknown - likely benign g.7750065G>A - KDM6B(NM_001348716.2):c.711+7G>A - KDM6B_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.712A>G r.(?) p.(Thr238Ala) Unknown - likely benign g.7750137A>G - KDM6B(NM_001080424.2):c.712A>G (p.T238A) - KDM6B_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.783_791del r.(?) p.(Pro262_Pro264del) Unknown - benign g.7750208_7750216del g.7846890_7846898del KDM6B(NM_001080424.2):c.783_791delACCACCACC (p.P262_P264del) - KDM6B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.783_791del r.(?) p.(Pro262_Pro264del) Unknown - benign g.7750208_7750216del - KDM6B(NM_001080424.2):c.783_791delACCACCACC (p.P262_P264del) - KDM6B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.783_791dup r.(?) p.(Pro262_Pro264dup) Unknown - benign g.7750208_7750216dup g.7846890_7846898dup KDM6B(NM_001080424.1):c.752_753insACCACCACC (p.(Leu251_Pro252insProProPro)), KDM6B(NM_001080424.2):c.783_791dupACCACCACC (p.P262_P264dup) - KDM6B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.783_791dup r.(?) p.(Pro262_Pro264dup) Unknown - likely benign g.7750208_7750216dup g.7846890_7846898dup KDM6B(NM_001080424.1):c.752_753insACCACCACC (p.(Leu251_Pro252insProProPro)), KDM6B(NM_001080424.2):c.783_791dupACCACCACC (p.P262_P264dup) - KDM6B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.786_791del r.(?) p.(Pro263_Pro264del) Unknown - likely benign g.7750211_7750216del g.7846893_7846898del KDM6B(NM_001080424.1):c.756_761del (p.(Pro255_Pro256del)), KDM6B(NM_001080424.2):c.786_791delACCACC (p.P263_P264del) - KDM6B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.786_791del r.(?) p.(Pro263_Pro264del) Unknown - likely benign g.7750211_7750216del g.7846893_7846898del KDM6B(NM_001080424.1):c.756_761del (p.(Pro255_Pro256del)), KDM6B(NM_001080424.2):c.786_791delACCACC (p.P263_P264del) - KDM6B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.786_791dup r.(?) p.(Pro263_Pro264dup) Unknown - VUS g.7750211_7750216dup g.7846893_7846898dup KDM6B(NM_001080424.1):c.753_758dup (p.(Pro252_Pro253insProPro)), KDM6B(NM_001080424.2):c.786_791dupACCACC (p.P263_P264dup) - KDM6B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.786_791dup r.(?) p.(Pro263_Pro264dup) Unknown - benign g.7750211_7750216dup g.7846893_7846898dup KDM6B(NM_001080424.1):c.753_758dup (p.(Pro252_Pro253insProPro)), KDM6B(NM_001080424.2):c.786_791dupACCACC (p.P263_P264dup) - KDM6B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.786_791dup r.(?) p.(Pro263_Pro264dup) Unknown - VUS g.7750178_7750186delinsACCACCACCACCACC - 753_761delinsACCACCACCACCACC - KDM6B_000008 - PubMed: Ackerman 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES CHTD patient PubMed: Ackerman 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - 1 Johan den Dunnen
-?/. - c.788_793dup r.(?) p.(Pro263_Pro264dup) Unknown - likely benign g.7750213_7750218dup g.7846895_7846900dup KDM6B(NM_001080424.1):c.786_787insCCACCC (p.(Pro261_Pro262dup)), KDM6B(NM_001080424.2):c.788_793dupCACCCC (p.P263_P264dup) - KDM6B_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.788_793dup r.(?) p.(Pro263_Pro264dup) Unknown - likely benign g.7750213_7750218dup - KDM6B(NM_001080424.1):c.786_787insCCACCC (p.(Pro261_Pro262dup)), KDM6B(NM_001080424.2):c.788_793dupCACCCC (p.P263_P264dup) - KDM6B_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.789_791del r.(?) p.(Pro264del) Unknown - likely benign g.7750214_7750216del g.7846896_7846898del KDM6B(NM_001080424.1):c.753_755del (p.(Pro253del)), KDM6B(NM_001080424.2):c.789_791delACC (p.P264del) - KDM6B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.789_791del r.(?) p.(Pro264del) Both (homozygous) ACMG benign g.7750214_7750216del g.7846896_7846898del 759_761delACC - KDM6B_000035 causative variant identified in FLNA PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
-/. - c.789_791del r.(?) p.(Pro264del) Unknown - benign g.7750214_7750216del - KDM6B(NM_001080424.1):c.753_755del (p.(Pro253del)), KDM6B(NM_001080424.2):c.789_791delACC (p.P264del) - KDM6B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.789_791dup r.(?) p.(Pro264dup) Unknown - benign g.7750214_7750216dup g.7846896_7846898dup KDM6B(NM_001080424.1):c.752_753insACC (p.(Leu251_Pro252insPro)), KDM6B(NM_001080424.2):c.789_791dupACC (p.P264dup) - KDM6B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.789_791dup r.(?) p.(Pro264dup) Unknown - likely benign g.7750214_7750216dup g.7846896_7846898dup KDM6B(NM_001080424.1):c.752_753insACC (p.(Leu251_Pro252insPro)), KDM6B(NM_001080424.2):c.789_791dupACC (p.P264dup) - KDM6B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.806C>T r.(?) p.(Ala269Val) Unknown - VUS g.7750231C>T - KDM6B(NM_001080424.1):c.806C>T (p.(Ala269Val)) - KDM6B_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.807T>C r.(?) p.(Ala269=) Unknown - benign g.7750232T>C g.7846914T>C KDM6B(NM_001080424.2):c.807T>C (p.A269=) - KDM6B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.904C>T r.(?) p.(Arg302Cys) Unknown - likely benign g.7750329C>T - KDM6B(NM_001080424.1):c.904C>T (p.(Arg302Cys)) - KDM6B_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909+5G>T r.spl? p.? Unknown - likely benign g.7750339G>T - KDM6B(NM_001080424.1):c.909+5G>T (p.?) - KDM6B_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1018del r.(?) p.(Arg340AlafsTer147) Maternal (confirmed) - pathogenic (dominant) g.7750531del g.7847213del 1014delC - KDM6B_000134 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat1 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, family, has affected mother with dysmorphic features similar to the daugther; sister 10y-ADHD, PDD, NOS, TIQ=88 with learning and behavioural problems; father previously had poor social skills F - - - - - - - 1 Johan den Dunnen
-?/. - c.1019G>C r.(?) p.(Arg340Pro) Unknown - likely benign g.7750532G>C g.7847214G>C KDM6B(NM_001080424.1):c.1019G>C (p.(Arg340Pro)) - KDM6B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1025dup r.(?) p.(Gly343Argfs*17) Unknown - likely pathogenic g.7750538dup - KDM6B(NM_001080424.2):c.1025dupC (p.G343Rfs*17) - KDM6B_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1053_1056del r.(?) p.(Ala352ProfsTer134) Unknown - pathogenic (dominant) g.7750566_7750569del g.7847248_7847251del 1044_1047del - KDM6B_000135 father not available PubMed: Rots 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat70 PubMed: Rots 2023 2-generation family, unaffected non-carrier mother, no affected relatives M - - - - - - - 1 Johan den Dunnen
?/. - c.1054G>T r.(?) p.(Ala352Ser) Unknown - VUS g.7750567G>T - KDM6B(NM_001348716.2):c.1054G>T (p.(Ala352Ser)) - KDM6B_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1055C>T r.(?) p.(Ala352Val) Unknown - VUS g.7750568C>T - KDM6B(NM_001348716.2):c.1055C>T (p.(Ala352Val)) - KDM6B_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1060C>T r.(?) p.(Arg354Cys) Unknown - VUS g.7750573C>T - KDM6B(NM_001080424.2):c.1060C>T (p.R354C) - KDM6B_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1085_1088del r.(?) p.(Glu362AlafsTer124) Unknown - VUS g.7750598_7750601del g.7847280_7847283del KDM6B(NM_001080424.2):c.1085_1088delAGAG (p.E362Afs*124) - KDM6B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1085_1088del r.(?) p.(Glu362AlafsTer124) Unknown - pathogenic (dominant) g.7750598_7750601del g.7847280_7847283del 1085_1088delAGAG - KDM6B_000016 - PubMed: Stolerman 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat12 PubMed: Stolerman 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1085_1088del r.(?) p.(Glu362AlafsTer124) Paternal (confirmed) - pathogenic (dominant) g.7750598_7750601del g.7847280_7847283del - - KDM6B_000016 - PubMed: Rots 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Rots 2023 family, has father with learning problems and dysmorphism (prominent forehead, amandel shaped eyes, synophrys, finger clubbing) and previous hip problems; fathers sister and mother have learning problems; brother 7y-ASD, normal IQ F - - - - - - - 1 Johan den Dunnen
+/. - c.1085_1088del r.(?) p.(Glu362AlafsTer124) Maternal (confirmed) - pathogenic (dominant) g.7750598_7750601del g.7847280_7847283del - - KDM6B_000016 affected mother/sister carry variant PubMed: Rots 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat18 PubMed: Rots 2023 family, affected heterozygous carrier mother and sister M - - - - - - - 1 Johan den Dunnen
+/. - c.1085_1088del r.(?) p.(Glu362AlafsTer124) Unknown - pathogenic (dominant) g.7750598_7750601del g.7847280_7847283del - - KDM6B_000016 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat82 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives F - - - - - - - 1 Johan den Dunnen
-?/. - c.1130C>T r.(?) p.(Ala377Val) Unknown - likely benign g.7750643C>T - KDM6B(NM_001080424.2):c.1130C>T (p.A377V) - KDM6B_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1204A>T r.(?) p.(Ser402Cys) Unknown - likely benign g.7750717A>T - KDM6B(NM_001080424.1):c.1204A>T (p.(Ser402Cys)) - KDM6B_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1229_1233dup r.(?) p.(Gly412SerfsTer77) Unknown - pathogenic g.7750742_7750746dup - - - KDM6B_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1229_1233dup r.(?) p.(Gly412SerfsTer77) Unknown - pathogenic (dominant) g.7750742_7750746dup g.7847424_7847428dup - - KDM6B_000073 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat39 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - 1 Johan den Dunnen
-?/. - c.1235G>T r.(?) p.(Gly412Val) Unknown - likely benign g.7750748G>T g.7847430G>T KDM6B(NM_001080424.1):c.1235G>T (p.(Gly412Val)) - KDM6B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1240G>A r.(?) p.(Glu414Lys) Unknown - VUS g.7750753G>A - KDM6B(NM_001080424.1):c.1240G>A (p.(Glu414Lys)) - KDM6B_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1258-17T>C r.(=) p.(=) Unknown - benign g.7750847T>C g.7847529T>C KDM6B(NM_001080424.2):c.1258-17T>C - KDM6B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1260_1270del r.(?) p.(Gly421LeufsTer85) Unknown - pathogenic (dominant) g.7750866_7750876del g.7847548_7847558del 1258_1268del - KDM6B_000136 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat29 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives F - - - - - - - 1 Johan den Dunnen
?/. - c.1264G>A r.(?) p.(Ala422Thr) Unknown - VUS g.7750870G>A g.7847552G>A - - KDM6B_000109 ACMG PS2_S+PM2+BP4 PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat35 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - 1 Johan den Dunnen
-?/. - c.1330A>G r.(?) p.(Ser444Gly) Unknown - likely benign g.7750936A>G g.7847618A>G KDM6B(NM_001080424.1):c.1330A>G (p.(Ser444Gly)) - KDM6B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1355C>T r.(?) p.(Ala452Val) Unknown - likely benign g.7750961C>T - KDM6B(NM_001080424.1):c.1355C>T (p.(Ala452Val)) - KDM6B_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1416_1417del r.(?) p.(Cys473Serfs*36) Unknown - pathogenic g.7751022_7751023del g.7847704_7847705del - - KDM6B_000071 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+/. - c.1416_1417del r.(?) p.(Cys473SerfsTer36) Unknown - pathogenic (dominant) g.7751022_7751023del g.7847704_7847705del - - KDM6B_000071 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat47 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives F - - - - - - - 1 Johan den Dunnen
+/. - c.1416_1417del r.(?) p.(Cys473SerfsTer36) Paternal (confirmed) - pathogenic (dominant) g.7751022_7751023del g.7847704_7847705del - - KDM6B_000071 - PubMed: Rots 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat73 PubMed: Rots 2023 family, has father M - - - - - - - 1 Johan den Dunnen
+/. - c.1416_1417del r.(?) p.(Cys473SerfsTer36) Unknown - pathogenic (dominant) g.7751022_7751023del g.7847704_7847705del - - KDM6B_000071 - PubMed: Rots 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat74 PubMed: Rots 2023 family, father and affected son M - - - - - - - 1 Johan den Dunnen
+/. - c.1416_1417del r.(?) p.(Cys473Serfs*36) Unknown - pathogenic g.7751022_7751023del - KDM6B(NM_001080424.2):c.1416_1417delCT (p.C473Sfs*36) - KDM6B_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1439dup r.(?) p.(Pro481ThrfsTer29) Unknown - pathogenic (dominant) g.7751045dup g.7847727dup - - KDM6B_000137 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat5 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - 1 Johan den Dunnen
+/. - c.1452del r.(?) p.(Trp485Glyfs*2) Unknown - pathogenic g.7751058del - KDM6B(NM_001080424.2):c.1452delC (p.W485Gfs*2) - KDM6B_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1483C>T r.(?) p.(Arg495Ter) Unknown - pathogenic (dominant) g.7751089C>T g.7847771C>T - - KDM6B_000138 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat77 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - 1 Johan den Dunnen
-?/. - c.1522A>C r.(?) p.(Thr508Pro) Unknown - likely benign g.7751128A>C - KDM6B(NM_001080424.1):c.1522A>C (p.(Thr508Pro)) - KDM6B_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1537dup r.(?) p.(Arg513ProfsTer42) Unknown - pathogenic (dominant) g.7751143dup g.7847825dup - - KDM6B_000139 - PubMed: Rots 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat23 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - 1 Johan den Dunnen
-/. - c.1538G>C r.(?) p.(Arg513Pro) Unknown - benign g.7751144G>C g.7847826G>C KDM6B(NM_001080424.1):c.1538G>C (p.(Arg513Pro)), KDM6B(NM_001080424.2):c.1538G>C (p.R513P) - KDM6B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1538G>C r.(?) p.(Arg513Pro) Unknown - likely benign g.7751144G>C g.7847826G>C KDM6B(NM_001080424.1):c.1538G>C (p.(Arg513Pro)), KDM6B(NM_001080424.2):c.1538G>C (p.R513P) - KDM6B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1543G>C r.(?) p.(Ala515Pro) Unknown - likely benign g.7751149G>C g.7847831G>C KDM6B(NM_001080424.1):c.1543G>C (p.(Ala515Pro)) - KDM6B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1556T>C r.(?) p.(Leu519Pro) Unknown - likely benign g.7751162T>C g.7847844T>C KDM6B(NM_001080424.1):c.1556T>C (p.(Leu519Pro)) - KDM6B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1562A>C r.(?) p.(His521Pro) Unknown - likely benign g.7751168A>C - KDM6B(NM_001080424.2):c.1562A>C (p.H521P) - KDM6B_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.