Full data view for gene KDM6A

Information The variants shown are described using the NM_021140.2 transcript reference sequence.

246 entries on 3 pages. Showing entries 1 - 100.
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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_29_ c.(?_-375)_(*1191del_?)del r.0 p.0 Unknown ACMG pathogenic (dominant) g.(?_44732423)_(44971847_?)del g.(?_44873177)_(45112602_?)del del gene - KDM6A_000173 - PubMed: Faundes 2021 - - Germline/De novo (untested) - - - - - DNA MLPA - - KABUK Pat1 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
?/. _1_10i c.-375_(875+1_876-1178){2} r.? p.? Unknown - VUS g.(?_44706657)_(44917073_?)dup - - - KDM6A_000107 210 kb duplication PubMed: Lindgren 2013 - - Germline/De novo (untested) - - - - - DNA arraySNP - - ? BCH5562 PubMed: Lindgren 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. _1_29_ c.-375_*1191{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_41666611)_(45185654(_?)del - - - KDM6A_000010 3.52 Mb deleion incl. part CASK PubMed: Lindgren 2013 - - De novo - - - - - DNA arraySNP - - ? DECIPHER4479 PubMed: Lindgren 2013 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_29_ c.-375_*1191{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_42660069)_(46378186_?)del - - - KDM6A_000010 3.72 Mb deletion PubMed: Lindgren 2013 - - De novo - - - - - DNA arraySNP - - ? DECIPHER130 PubMed: Lindgren 2013 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. _1_29_ c.-375_*1191{2} r.? p.? Parent #1 - VUS g.(?_38965125)_(44995301_?)dup - - - KDM6A_000105 6.03 Mb duplication inherited from normal parent incl. CASK, DDX3X PubMed: Lindgren 2013 - - Germline - - - - - DNA arraySNP - - ? DECIPHER254319 PubMed: Lindgren 2013 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_29_ c.-375_*1191{2} r.? p.? Unknown - pathogenic (dominant) g.(?_43113035)_(49496089_?)dup - - - KDM6A_000105 6.4 Mb duplication incl. WAS, ARAF, ELK1, PIM2 PubMed: Lindgren 2013 - - Germline/De novo (untested) - - - - - DNA arraySNP - - ? SG55459 PubMed: Lindgren 2013 - F - United States - - - - - 1 Johan den Dunnen
?/. _1_29_ c.-375_*1191{2} r.? p.? Unknown - VUS g.(?_39976597)_(47216121_?)dup - - - KDM6A_000105 7.2 Mb duplication incl. CASK, DX3X PubMed: Lindgren 2013 - - Germline/De novo (untested) - - - - - DNA arraySNP - - ? SG44724 PubMed: Lindgren 2013 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_29_ c.-375_*1191{2} r.? p.? Unknown - pathogenic (dominant) g.(?_41290770)_(48859176_?)dup - - - KDM6A_000105 7.6 Mb duplication incl. CASK, WAS, ARAF, ELK1, PIM2 PubMed: Lindgren 2013 - - De novo - - - - - DNA arraySNP - - ? SG9651 PubMed: Lindgren 2013 - F - United States - - - - - 1 Johan den Dunnen
+/. _1_29_ c.-375_*1191{2} r.? p.? Unknown - pathogenic (dominant) g.(?_40088624)_(47947626_?)dup - - - KDM6A_000105 7.9 Mb duplication incl. CASK, DDX3X, ARAF, ELK1 PubMed: Lindgren 2013 - - Germline/De novo (untested) - - - - - DNA arraySNP - - ? SG57940 PubMed: Lindgren 2013 - F - United States - - - - - 1 Johan den Dunnen
?/. _1_29_ c.-375_*1191{2} r.? p.? Unknown - VUS g.(?_44350469)_(45063265_?)dup - - - KDM6A_000105 713 kb duplication PubMed: Lindgren 2013 - - Germline/De novo (untested) - - - - - DNA arraySNP - - ? BCH5561 PubMed: Lindgren 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. _1_2i c.-159013_226-19070del r.0? p.0? Unknown - pathogenic (dominant) g.44573785_44801459del g.44714539_44942214del - - KDM6A_000106 227 kb deletion PubMed: Yang 2016 - - De novo - - - - - DNA arraySNP, PCR, SEQ - - KABUK - PubMed: Yang 2016 - F - China - - - - - 1 Johan den Dunnen
+/. _1_29_ c.-375_*1191{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_g.44732423)_(44971847del_?)del g.(?_44873177)_(45112602_?)del - - KDM6A_000010 815.7 kb deletion incl. CXorf36, DUSP21, FUNDC1 PubMed: Lederer 2012 - - De novo - - - - - DNA arrayCNV - - KABUK2 - PubMed: Lederer 2012 - F no Belgium - - - - - 1 Johan den Dunnen
+/. 2i c.-375_225+26501{0}ins? r.? p.? Unknown - pathogenic g.pter_44998235delins[NC_000005.9:g.176906715_qterinv] - - t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn KDM6A_000103 - PubMed: Lindgren 2013 - - De novo - - - - - DNA arraySNP, PCR, SEQ - - ? DGAP100 PubMed: Lindgren 2013 - F - United States - - - - - 1 Johan den Dunnen
+/. 2i c.? r.? p.? Unknown - pathogenic g.[NC_000005.9:g.176906708_qter]delinspter_44998234inv - - t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn KDM6A_000104 - PubMed: Lindgren 2013 - - De novo - - - - - DNA arraySNP, PCR, SEQ - - ? DGAP100 PubMed: Lindgren 2013 - F - United States - - - - - 1 Johan den Dunnen
-/. - c.5A>G r.(?) p.(Lys2Arg) Unknown - benign g.44732802A>G g.44873556A>G KDM6A(NM_001291415.1):c.5A>G (p.K2R) - KDM6A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.40_51dup r.(?) p.(Ala14_Ala17dup) Unknown - likely benign g.44732837_44732848dup g.44873591_44873602dup KDM6A(NM_001291415.1):c.40_51dupGCCGCCGCCGCT (p.A14_A17dup), KDM6A(NM_001291415.2):c.40_51dupGCCGCCGCCGCT (p.A14_A17dup) - KDM6A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.40_51dup r.(?) p.(Ala14_Ala17dup) Unknown - likely benign g.44732837_44732848dup - KDM6A(NM_001291415.1):c.40_51dupGCCGCCGCCGCT (p.A14_A17dup), KDM6A(NM_001291415.2):c.40_51dupGCCGCCGCCGCT (p.A14_A17dup) - KDM6A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.46_47dup r.(?) p.(Ala17ProfsTer26) Maternal (confirmed) ACMG pathogenic (dominant) g.44732843_44732844dup g.44873597_44873598dup 46_47dupGC - KDM6A_000174 - PubMed: Faundes 2021 - - Germline - - - - - DNA SEQ - - KABUK Pat4 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - 1 Johan den Dunnen
-/. - c.48_50dup r.(?) p.(Ala17dup) Unknown - benign g.44732845_44732847dup g.44873599_44873601dup KDM6A(NM_001291415.1):c.48_50dupCGC (p.A17dup), KDM6A(NM_001291415.2):c.48_50dup (p.(Ala17dup)), KDM6A(NM_021140.4):c.48_50dupCGC (p.A17dup) - KDM6A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.48_50dup r.(?) p.(Ala17dup) Unknown - benign g.44732845_44732847dup g.44873599_44873601dup KDM6A(NM_001291415.1):c.48_50dupCGC (p.A17dup), KDM6A(NM_001291415.2):c.48_50dup (p.(Ala17dup)), KDM6A(NM_021140.4):c.48_50dupCGC (p.A17dup) - KDM6A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.48_50dup r.(?) p.(Ala17dup) Unknown - likely benign g.44732845_44732847dup - KDM6A(NM_001291415.1):c.48_50dupCGC (p.A17dup), KDM6A(NM_001291415.2):c.48_50dup (p.(Ala17dup)), KDM6A(NM_021140.4):c.48_50dupCGC (p.A17dup) - KDM6A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.49G>A r.(?) p.(Ala17Thr) Unknown - likely benign g.44732846G>A - KDM6A(NM_001291415.1):c.49G>A (p.A17T) - KDM6A_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.75_90dup r.(?) p.(Ser31Glyfs*39) Unknown - likely pathogenic g.44732872_44732887dup - KDM6A(NM_021140.4):c.75_90dupGGCGGCGGGAAAAGCG (p.S31Gfs*39) - KDM6A_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.88G>A r.(?) p.(Ala30Thr) Unknown - likely benign g.44732885G>A g.44873639G>A KDM6A(NM_001291415.1):c.88G>A (p.A30T) - KDM6A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.162C>T r.(?) p.(Ser54=) Unknown - VUS g.44733170C>T g.44873924C>T KDM6A(NM_001291415.1):c.162C>T (p.S54=), KDM6A(NM_021140.2):c.162C>T (p.(=)) - KDM6A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162C>T r.(?) p.(Ser54=) Unknown - likely benign g.44733170C>T - KDM6A(NM_001291415.1):c.162C>T (p.S54=), KDM6A(NM_021140.2):c.162C>T (p.(=)) - KDM6A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.171dup r.(?) p.(Gly58Trpfs*7) Unknown - pathogenic (dominant) g.44733179dup g.44873933dup - - KDM6A_000015 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - De novo yes - - - - DNA SEQ-NG-I - - KABUK2 P212 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - F no Turkey Turkish - - - - 1 Nina Bögershausen
+/. 2 c.190G>T r.(?) p.(Glu64*) Unknown - pathogenic (dominant) g.44733198G>T g.44873952G>T - - KDM6A_000022 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - De novo yes - - - - DNA SEQ - - KABUK2 P209 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - F no Germany German - - - - 1 Nina Bögershausen
-?/. - c.225+6835_225+6836insTTGA r.(=) p.(=) Unknown - likely benign g.44740068_44740069insTTGA - KDM6A(NM_001291415.2):c.225+6835_225+6836insTTGA - KDM6A_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(225+1_226-2528)_(334+5363_335-1)dup r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(?)44818001)_(44826000_?)dup - chrX:44818001-44826000×2 - KDM6A_000146 - PubMed: Gostain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? CMC16 PubMed: Gostain 2020 - M - Canada - - - - - 1 Johan den Dunnen
+/. 2i_24i c.(225+1_226-1)_(3548+1_3549-1)del r.? p.? Unknown ACMG pathogenic (dominant) g.(44733234_44820528)_(44945225_44948987)del g.(44873988_44961283)_(45085980_45089742)del del ex3-24 arr[hg19]Xp11.3(44818602_ 44947539)×0 KDM6A_000175 - PubMed: Yap 2019 - - Somatic - - - - - DNA arrayCGH - - KABUK Pat1 PubMed: Yap 2019 2-generation family, 1 affected, unaffected non-carrier parents M - Italy;Germany;Slovakia (Slovak Republic) no - - - - 1 Johan den Dunnen
+/. - c.289del r.(?) p.(Cys97ValfsTer3) Unknown - pathogenic g.44820592del g.44961347del 289delT - KDM6A_000170 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
-?/. 3i c.335-70C>A r.(?) p.(=) Maternal (inferred) - likely benign g.44833841C>A g.44974596C>A - - KDM6A_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 3i c.335-70C>A r.(?) p.(=) Maternal (inferred) - likely benign g.44833841C>A g.44974596C>A - - KDM6A_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.357C>G r.(?) p.(Tyr119Ter) Unknown ACMG pathogenic (dominant) g.44833933C>G g.44974688C>G - - KDM6A_000176 - PubMed: Faundes 2021 - - De novo - - - - - DNA SEQ - - KABUK Pat11 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.357C>G r.(?) p.(Tyr119Ter) Unknown ACMG pathogenic (dominant) g.44833933C>G g.44974688C>G - - KDM6A_000176 - PubMed: Yap 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES KABUK Pat4 PubMed: Yap 2019 2-generation family, 1 affected, unaffected non-carrier parents F no Iran;Italy - - - - - 1 Johan den Dunnen
+/. - c.357C>G r.(?) (p.Tyr119*) Unknown ACMG pathogenic (dominant) g.44833933C>G g.44974688C>G - - KDM6A_000176 - PubMed: Yap 2019 - - De novo - - - - - DNA SEQ - - KABUK Pat9 PubMed: Yap 2019 2-generation family, 1 affected, unaffected non-carrier parents F no Iran;Italy - - - - - 1 Johan den Dunnen
-?/. - c.384+13423C>T r.(=) p.(=) Unknown - likely benign g.44847383C>T - KDM6A(NM_001291415.2):c.384+13423C>T - KDM6A_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i_9i c.(384+1_385-1)_(748+1_749-1)del r.(del) p.? Unknown - pathogenic g.(44833961_44870205)_(44911048_44913073)del - - - KDM6A_000011 - PubMed: Lederer 2012, OMIM:var0001 - - De novo yes - - - - DNA SEQ - - KABUK2 - PubMed: Lederer 2012 - M no Italy - - - - - 1 Johan den Dunnen
?/. - c.401A>G r.(?) p.(Tyr134Cys) Unknown - VUS g.44870222A>G g.45010977A>G - - KDM6A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.401A>G r.(?) p.(Tyr134Cys) Unknown ACMG likely pathogenic (dominant) g.44870222A>G g.45010977A>G - - KDM6A_000061 ACMG PM1, PM2, PP1, PP3 PubMed: Faundes 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES KABUK Pat15 PubMed: Faundes 2021 2-generation family, patient, affected mother (not tested) M - - - - - - - 1 Johan den Dunnen
+?/. - c.401A>G r.(?) p.(Tyr134Cys) Unknown ACMG likely pathogenic (dominant) g.44870222A>G g.45010977A>G - - KDM6A_000061 ACMG PM1, PM2, PP1, PP3 PubMed: Faundes 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES KABUK Pat16 PubMed: Faundes 2021 2-generation family, patient, affected mother (not tested) M - - - - - - - 1 Johan den Dunnen
+?/. - c.401A>G r.(?) p.(Tyr134Cys) Maternal (confirmed) ACMG likely pathogenic (dominant) g.44870222A>G g.45010977A>G - - KDM6A_000061 ACMG PM1, PM2, PP1, PP3 PubMed: Faundes 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES KABUK Pat17 PubMed: Faundes 2021 2-generation family, patient, mother not analysed M - - - - - - - 1 Johan den Dunnen
+?/. - c.409G>T r.(?) p.(Gly137Cys) Unknown ACMG likely pathogenic (dominant) g.44870230G>T - - - KDM6A_000123 ACMG: PS2, PM2_SUP, PP3 - - - De novo ? - - - - DNA SEQ-NG-I - - KABUK2 181651 - - F - Germany - - - - - 1 Andreas Laner
+/. 5i c.443+5G>C r.spl? p.(?) Unknown - pathogenic (dominant) g.44870269G>C g.45011024G>C - - KDM6A_000029 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - De novo yes - - - - DNA SEQ - - KABUK2 P217 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - F no France ? - - - - 1 Nina Bögershausen
-?/. - c.444-7C>T r.(=) p.(=) Unknown - likely benign g.44879848C>T g.45020603C>T KDM6A(NM_021140.2):c.444-7C>T (p.?), KDM6A(NM_021140.3):c.444-7C>T - KDM6A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.444-7C>T r.(=) p.(=) Unknown - likely benign g.44879848C>T - KDM6A(NM_021140.2):c.444-7C>T (p.?), KDM6A(NM_021140.3):c.444-7C>T - KDM6A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i_6i c.(443+1_444-1)_(564+1_565-1)del r.? p.? Unknown ACMG pathogenic (dominant) g.(44870265_44879854)_(44879976_44894175)del g.(45011020_45020609)_(45020731_45034930)del del ex6, c.444-?_565+?del - KDM6A_000177 - PubMed: Banka 2015 - - De novo - - - - - DNA SEQ, MLPA - - KABUK Pat6 PubMed: Banka 2015 2-generation family, 1 affected, unaffected non-carrier parents M - Belgium - - - - - 1 Johan den Dunnen
+?/. - c.445G>A r.(?) p.(Ala149Thr) Paternal (confirmed) ACMG likely pathogenic (dominant) g.44879856G>A g.45020611G>A - - KDM6A_000178 ACMG PM1, PM2, PP1, PP4 PubMed: Faundes 2021 - - Germline - - - - - DNA SEQ - - KABUK Pat20 PubMed: Faundes 2021 2-generation family, patient, similarly affected carrier father F - - - - - - - 1 Johan den Dunnen
+/. 6 c.514C>T r.(?) p.(Arg172*) Unknown - pathogenic g.44879925C>T g.45020680C>T - - KDM6A_000020 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. 6 c.514C>T r.(?) p.(Arg172*) Unknown - pathogenic (dominant) g.44879925C>T g.45020680C>T - - KDM6A_000023 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - De novo yes - - - - DNA SEQ - - KABUK2 P210 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - F no France ? - - - - 1 Nina Bögershausen
+/. - c.514C>T r.(?) p.(Arg172*) Unknown ACMG pathogenic g.44879925C>T g.45020680C>T - - KDM6A_000020 - PubMed: Faundes 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 259011 PubMed: Faundes 2018 - - - - - - - - - 1 Johan den Dunnen
+/. - c.514C>T r.(?) p.(Arg172Ter) Unknown ACMG pathogenic (dominant) g.44879925C>T g.45020680C>T - - KDM6A_000020 - PubMed: Banka 2015 - - De novo - - - - - DNA SEQ - - KABUK Pat3 PubMed: Banka 2015 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.514C>T r.(?) p.(Arg172Ter) Unknown ACMG pathogenic (dominant) g.44879925C>T g.45020680C>T - - KDM6A_000020 - PubMed: Faundes 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES KABUK Pat22 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.520G>A r.(?) p.(Gly174Arg) Unknown ACMG likely pathogenic (dominant) g.44879931G>A g.45020686G>A - - KDM6A_000179 ACMG PM1, PM2, PM6, PP3, PP5 PubMed: Faundes 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES KABUK Pat25 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.563A>G r.(?) p.(Lys188Arg) Unknown ACMG likely pathogenic (dominant) g.44879974A>G g.45020729A>G - - KDM6A_000109 - PubMed: Banka 2015 - - De novo - - - - - DNA SEQ - - KABUK Pat7 PubMed: Banka 2015 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6i_17i c.(564+1_565-1)_(2702+1_2703-1)del r.? p.? Unknown ACMG pathogenic (dominant) g.(44879976_44894175)_(44929603_44935941)del g.(45020731_45034930)_(45070358_45076696)del del ex7-17 arr[hg19] Xp11.3 (44892185_ 44935785)×1 KDM6A_000180 - PubMed: Yap 2019 - - De novo - - - - - DNA arrayCGH - - KABUK Pat2 PubMed: Yap 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - white - - - - 1 Johan den Dunnen
?/. - c.578C>T r.(?) p.(Ala193Val) Maternal (confirmed) ACMG VUS g.44894189C>T g.45034944C>T - - KDM6A_000096 - PubMed: Faundes 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 263764 PubMed: Faundes 2018 - - - - - - - - - 1 Johan den Dunnen
?/. - c.617A>C r.(?) p.(Glu206Ala) Unknown - VUS g.44894228A>C - KDM6A(NM_001291415.2):c.617A>C (p.(Glu206Ala)) - KDM6A_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.619+4_619+7del r.spl? p.? Unknown - pathogenic g.44894234_44894237del g.45034989_45034992del 619+4_619+7delAGTA - KDM6A_000171 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. 7i c.619+6T>C r.spl? p.(?) Unknown - pathogenic (dominant) g.44894236T>C g.45034991T>C - - KDM6A_000030 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - De novo yes - - - - DNA SEQ - - KABUK2 P218 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - M no France ? - - - - 1 Nina Bögershausen
+/. 7i c.620-2A>G r.spl p.? Unknown - pathogenic (dominant) g.44896898A>G g.45037653A>G - - KDM6A_000031 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - De novo yes - - - - DNA SEQ - - KABUK2 P219 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - M no France ? - - - - 1 Nina Bögershausen
+/. - c.655-1_662dup r.spl? p.(Tyr221Ter) Unknown ACMG pathogenic (dominant) g.44910953_44910961dup g.45051708_45051716dup 655-1_662dupGAGGAAATA - KDM6A_000181 - PubMed: Faundes 2021 - - De novo - - - - - DNA SEQ - - KABUK Pat30 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.660A>T r.(?) p.(Lys220Asn) Unknown - VUS g.44910959A>T - KDM6A(NM_021140.2):c.660A>T (p.(Lys220Asn)), KDM6A(NM_021140.4):c.660A>T (p.K220N) - KDM6A_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.660A>T r.(?) p.(Lys220Asn) Unknown - VUS g.44910959A>T - KDM6A(NM_021140.2):c.660A>T (p.(Lys220Asn)), KDM6A(NM_021140.4):c.660A>T (p.K220N) - KDM6A_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.688C>T r.(?) p.(Gln230Ter) Unknown ACMG pathogenic (dominant) g.44910987C>T g.45051742C>T - - KDM6A_000182 - PubMed: Faundes 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - KABUK Pat31 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
?/. - c.739C>G r.(?) p.(Gln247Glu) Maternal (confirmed) ACMG VUS g.44911038C>G g.45051793C>G - - KDM6A_000097 - PubMed: Faundes 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 278734 PubMed: Faundes 2018 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.749-5dup r.spl? p.? Unknown - likely benign g.44913069dup g.45053824dup KDM6A(NM_001291415.1):c.749-5dupT - KDM6A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.749-2A>G r.spl p.? Unknown ACMG pathogenic (dominant) g.44913072A>G g.45053827A>G - - KDM6A_000183 - PubMed: Faundes 2021 - - De novo - - - - - DNA SEQ - - KABUK Pat32 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. 10 c.752G>A r.(?) p.(Trp251*) Unknown - pathogenic (dominant) g.44913077G>A g.45053832G>A - - KDM6A_000110 - PubMed: Van Laarhoven 2015 - - Unknown - - - - - DNA SEQ - - KABUK - PubMed: Van Laarhoven 2015 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.823A>G r.(?) p.(Lys275Glu) Unknown - likely benign g.44913148A>G g.45053903A>G - - KDM6A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.860G>A r.(?) p.(Trp287*) Unknown ACMG pathogenic g.44913185G>A - - - KDM6A_000088 - PubMed: Mendonca 2021 - - Somatic - 0.081 - - - DNA SEQ-NG-I blood/FFPE tumor 160 genes RB1 Patient 80 PubMed: Mendonca 2021 - M - Brazil - - - - - 1 Vanessa Mendonça
+?/. - c.871G>A r.(?) p.(Gly291Arg) Unknown - likely pathogenic g.44913196G>A - KDM6A(NM_001291415.2):c.871G>A (p.(Gly291Arg)) - KDM6A_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.876-14C>T r.(=) p.(=) Unknown - likely benign g.44918237C>T - KDM6A(NM_001291415.1):c.876-14C>T - KDM6A_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.968C>A r.(?) p.(Ser323* ) Unknown ACMG pathogenic g.44918343C>A g.45059098C>A - - KDM6A_000102 - PubMed: Squeo 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 68-gene panel ? GDB1363 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - 1 Johan den Dunnen
+/. - c.975-1G>A r.spl? p.? Unknown - pathogenic g.44918491G>A g.45059246G>A - - KDM6A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.991C>T r.(?) p.(Gln331*) Unknown ACMG pathogenic g.44918508C>T - - - KDM6A_000090 - PubMed: Mendonca 2021 - - Somatic - 0.04 - - - DNA SEQ-NG-I blood/FFPE tumor - RB1 Patient 21 PubMed: Mendonca 2021 - M no Brazil - - - - - 1 Vanessa Mendonça
?/. - c.1121G>C r.(?) p.(Cys374Ser) Unknown - VUS g.44918638G>C - KDM6A(NM_001291415.1):c.1121G>C (p.C374S) - KDM6A_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1178G>A r.(?) p.(Arg393Gln) Unknown - VUS g.44918695G>A g.45059450G>A KDM6A(NM_021140.2):c.1178G>A (p.(Arg393Gln)) - KDM6A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1192C>T r.(?) p.(Gln398Ter) Unknown ACMG pathogenic (dominant) g.44918709C>T g.45059464C>T - - KDM6A_000129 ACMG PVS1, PM2, PP3, PP4 PubMed: Kritioti 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat10 PubMed: Kritioti 2021 - M - Cyprus Greece - - - - 1 Johan den Dunnen
-?/. - c.1215A>T r.(?) p.(Pro405=) Unknown - likely benign g.44919287A>T - KDM6A(NM_001291415.1):c.1215A>T (p.P405=) - KDM6A_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1238C>T r.(?) p.(Thr413Ile) Unknown - VUS g.44919310C>T - KDM6A(NM_021140.4):c.1238C>T (p.T413I) - KDM6A_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1284C>T r.(?) p.(Pro428=) Unknown - likely benign g.44919356C>T - KDM6A(NM_001291415.1):c.1284C>T (p.P428=) - KDM6A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1318A>G r.(?) p.(Thr440Ala) Unknown - VUS g.44919390A>G - KDM6A(NM_021140.4):c.1318A>G (p.T440A) - KDM6A_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1324C>A r.(?) p.(Gln442Lys) Unknown - VUS g.44919396C>A g.45060151C>A KDM6A(NM_001291415.1):c.1324C>A (p.Q442K) - KDM6A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1324C>A r.(?) p.(Gln442Lys) Unknown - VUS g.44919396C>A g.45060151C>A KDM6A(NM_001291415.1):c.1324C>A (p.Q442K) - KDM6A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1330-556T>C r.(=) p.(=) Unknown - likely benign g.44920013T>C - KDM6A(NM_001291415.1):c.1485+4T>C, KDM6A(NM_021140.4):c.1330-556T>C - KDM6A_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1330-556T>C r.(=) p.(=) Unknown - likely benign g.44920013T>C - KDM6A(NM_001291415.1):c.1485+4T>C, KDM6A(NM_021140.4):c.1330-556T>C - KDM6A_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1335T>G r.(?) p.(Thr445=) Unknown - likely benign g.44920574T>G - KDM6A(NM_001291415.1):c.1491T>G (p.T497=) - KDM6A_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1337C>G r.(?) p.(Ser446Cys) Both (homozygous) ACMG VUS g.44920576C>G g.45061331C>G - - KDM6A_000128 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M285 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
-/. - c.1402T>C r.(?) p.(Cys468Arg) Unknown - benign g.44920641T>C g.45061396T>C KDM6A(NM_001291415.1):c.1558T>C (p.C520R) - KDM6A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1402T>C r.(?) p.(Cys468Arg) Unknown - likely benign g.44920641T>C g.45061396T>C KDM6A(NM_001291415.1):c.1558T>C (p.C520R) - KDM6A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1423C>T r.(?) p.(Gln475*) Unknown - pathogenic g.44920662C>T g.45061417C>T - - KDM6A_000057 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
-?/. - c.1523A>G r.(?) p.(His508Arg) Unknown - likely benign g.44921989A>G g.45062744A>G KDM6A(NM_001291415.1):c.1679A>G (p.H560R) - KDM6A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1527+3G>A r.spl? p.? Unknown - likely benign g.44921996G>A g.45062751G>A KDM6A(NM_001291415.1):c.1683+3G>A, KDM6A(NM_001291415.2):c.1683+3G>A (p.?) - KDM6A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1527+3G>A r.spl? p.? Unknown - likely benign g.44921996G>A g.45062751G>A KDM6A(NM_001291415.1):c.1683+3G>A, KDM6A(NM_001291415.2):c.1683+3G>A (p.?) - KDM6A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1528-1G>A r.spl? p.? Unknown - pathogenic g.44922666G>A - KDM6A(NM_021140.4):c.1528-1G>A - KDM6A_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.1555C>T r.(?) p.(Arg519*) Unknown - pathogenic (dominant) g.44922694C>T g.45063449C>T - - KDM6A_000003 - PubMed: Miyake 2013, OMIM:var0003 - - Germline yes - - - - DNA SEQ - - KABUK2 - PubMed: Miyake 2013 - M no Japan - - - - - 1 Noriko Miyake
?/. - c.1580C>G r.(?) p.(Pro527Arg) Unknown - VUS g.44922719C>G - - - KDM6A_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1624C>T r.(?) p.(Gln542*) Unknown - pathogenic g.44922763C>T - KDM6A(NM_021140.4):c.1624C>T (p.Q542*) - KDM6A_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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