Unique variants in the KDM6A gene

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

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

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 _1_10i c.-375_(875+1_876-1178){2} r.? p.? - VUS g.(?_44706657)_(44917073_?)dup - - - KDM6A_000107 210 kb duplication PubMed: Lindgren 2013 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 _1_29_ c.-375_*1191{0} r.0 p.0 - pathogenic (dominant) g.(?_41666611)_(45185654(_?)del, g.(?_42660069)_(46378186_?)del - - - KDM6A_000010 3.52 Mb deleion incl. part CASK, 3.72 Mb deletion PubMed: Lindgren 2013 - - De novo - - - - - Johan den Dunnen
+/., ?/. 6 _1_29_ c.-375_*1191{2} r.? p.? - pathogenic (dominant), VUS g.(?_38965125)_(44995301_?)dup, g.(?_39976597)_(47216121_?)dup, g.(?_40088624)_(47947626_?)dup, 3 more items - - - KDM6A_000105 6.03 Mb duplication inherited from normal parent incl. CASK, DDX3X, 713 kb duplication, 4 more items PubMed: Lindgren 2013 - - De novo, Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 _1_2i c.-375_226-19070{0} r.? p.? - pathogenic (dominant) g.44573785_44801459del g.44714539_44942214del - - KDM6A_000106 227 kb deletion PubMed: Yang 2016 - - De novo - - - - - Johan den Dunnen
+/. 1 _1_29_ c.-375_*1191{0} r.0 p.0 - 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 - - - - - Johan den Dunnen
+/. 1 2i c.-375_225+26501{0}ins? r.? p.? - 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 - - - - - Johan den Dunnen
+/. 1 2i c.? r.? p.? - 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 - - - - - Johan den Dunnen
-/. 1 - c.5A>G r.(?) p.(Lys2Arg) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.40_51dup r.(?) p.(Ala14_Ala17dup) - likely benign g.44732837_44732848dup g.44873591_44873602dup KDM6A(NM_001291415.1):c.40_51dupGCCGCCGCCGCT (p.A14_A17dup) - KDM6A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.48_50dup r.(?) p.(Ala17dup) - benign g.44732845_44732847dup g.44873599_44873601dup KDM6A(NM_001291415.1):c.48_50dupCGC (p.A17dup), KDM6A(NM_021140.3):c.48_50dupCGC (p.A17dup) - KDM6A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.88G>A r.(?) p.(Ala30Thr) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.162C>T r.(?) p.(Ser54=) - VUS g.44733170C>T g.44873924C>T KDM6A(NM_021140.2):c.162C>T (p.(=)) - KDM6A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 2 c.171dup r.(?) p.(Gly58Trpfs*7) - pathogenic (dominant) g.44733179dup g.44873933dup - - KDM6A_000015 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - De novo yes - - - - Nina Bögershausen
+/. 1 2 c.190G>T r.(?) p.(Glu64*) - pathogenic (dominant) g.44733198G>T g.44873952G>T - - KDM6A_000022 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - De novo yes - - - - Nina Bögershausen
-?/. 2 3i c.335-70C>A r.(?) p.(=) - likely benign g.44833841C>A g.44974596C>A - - KDM6A_000019 - - - - Germline - - - - - Yu Sun
+/. 1 4i_9i c.(384+1_385-1)_(748+1_749-1)del r.(del) p.? - pathogenic g.(44833961_44870205)_(44911048_44913073)del - - - KDM6A_000011 - PubMed: Lederer 2012, OMIM:var0001 - - De novo yes - - - - Johan den Dunnen
?/. 1 - c.401A>G r.(?) p.(Tyr134Cys) - VUS g.44870222A>G g.45010977A>G - - KDM6A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 5i c.443+5G>C r.spl? p.(?) - pathogenic (dominant) g.44870269G>C g.45011024G>C - - KDM6A_000029 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - De novo yes - - - - Nina Bögershausen
+/. 1 5i_6i c.(443+1_444-1)_(564+1_565-1)del r.? p.? - pathogenic (dominant) g.(44870266_44879855)_(44879976_44894175)del g.(45011021_45020610)_(45020731_45034930)del - - KDM6A_000108 del ex6, c.444-?_564+?del PubMed: Banka 2014 - - Unknown - - - - - Johan den Dunnen
+/. 4 6 c.514C>T r.(?) p.(Arg172*) ACMG pathogenic, pathogenic (dominant) g.44879925C>T g.45020680C>T - - KDM6A_000020, KDM6A_000023 - PubMed: Banka 2014, PubMed: Bögershausen 2016, Journal: Bögershausen 2016, PubMed: Faundes 2018, 1 more item - - De novo, Unknown yes - - - - Johan den Dunnen, Nina Bögershausen
+/. 1 6 c.563A>G r.(?) p.(Lys188Arg) - pathogenic (dominant) g.44879974A>G g.45020729A>G - - KDM6A_000109 - PubMed: Banka 2014 - - Unknown - - - - - Johan den Dunnen
?/. 1 - c.578C>T r.(?) p.(Ala193Val) ACMG VUS g.44894189C>T g.45034944C>T - - KDM6A_000096 - PubMed: Faundes 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 7i c.619+6T>C r.spl? p.(?) - pathogenic (dominant) g.44894236T>C g.45034991T>C - - KDM6A_000030 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - De novo yes - - - - Nina Bögershausen
+/. 1 7i c.620-2A>G r.spl p.? - pathogenic (dominant) g.44896898A>G g.45037653A>G - - KDM6A_000031 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - De novo yes - - - - Nina Bögershausen
?/. 1 - c.739C>G r.(?) p.(Gln247Glu) ACMG VUS g.44911038C>G g.45051793C>G - - KDM6A_000097 - PubMed: Faundes 2018 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.749-5dup r.spl? p.? - likely benign g.44913069dup g.45053824dup KDM6A(NM_001291415.1):c.749-5dupT - KDM6A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 10 c.752G>A r.(?) p.(Trp251*) - pathogenic (dominant) g.44913077G>A g.45053832G>A - - KDM6A_000110 - PubMed: Van Laarhoven 2015 - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.823A>G r.(?) p.(Lys275Glu) - likely benign g.44913148A>G g.45053903A>G - - KDM6A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.876-14C>T r.(=) p.(=) - likely benign g.44918237C>T - KDM6A(NM_001291415.1):c.876-14C>T - KDM6A_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 10 c.968C>A r.(?) p.(Ser323* ) ACMG pathogenic g.44918343C>A g.45059098C>A - - KDM6A_000102 - PubMed: Squeo 2020 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.975-1G>A r.spl? p.? - pathogenic g.44918491G>A g.45059246G>A - - KDM6A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1178G>A r.(?) p.(Arg393Gln) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.1215A>T r.(?) p.(Pro405=) - likely benign g.44919287A>T - KDM6A(NM_001291415.1):c.1215A>T (p.P405=) - KDM6A_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1284C>T r.(?) p.(Pro428=) - likely benign g.44919356C>T - KDM6A(NM_001291415.1):c.1284C>T (p.P428=) - KDM6A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1318A>G r.(?) p.(Thr440Ala) - VUS g.44919390A>G - KDM6A(NM_021140.3):c.1318A>G (p.T440A) - KDM6A_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 - c.1324C>A r.(?) p.(Gln442Lys) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.1330-556T>C r.(=) p.(=) - likely benign g.44920013T>C - KDM6A(NM_001291415.1):c.1485+4T>C - KDM6A_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1335T>G r.(?) p.(Thr445=) - likely benign g.44920574T>G - KDM6A(NM_001291415.1):c.1491T>G (p.T497=) - KDM6A_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.1402T>C r.(?) p.(Cys468Arg) - benign, 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.1423C>T r.(?) p.(Gln475*) - pathogenic g.44920662C>T g.45061417C>T - - KDM6A_000057 - - - - Unknown - - - - - IMGAG
-?/. 1 - c.1523A>G r.(?) p.(His508Arg) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1527+3G>A r.spl? p.? - likely benign g.44921996G>A g.45062751G>A KDM6A(NM_001291415.1):c.1683+3G>A, KDM6A(NM_021140.2):c.1527+3G>A (p.?) - KDM6A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 1 - c.1528-1G>A r.spl? p.? - pathogenic g.44922666G>A - KDM6A(NM_021140.3):c.1528-1G>A - KDM6A_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 6 c.1555C>T r.(?) p.(Arg519*) - pathogenic (dominant) g.44922694C>T g.45063449C>T - - KDM6A_000003 - PubMed: Miyake 2013, OMIM:var0003 - - Germline yes - - - - Noriko Miyake
-?/. 1 - c.1718C>T r.(?) p.(Ser573Phe) - likely benign g.44922857C>T g.45063612C>T KDM6A(NM_001291415.1):c.1874C>T (p.S625F) - KDM6A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1741A>G r.(?) p.(Thr581Ala) - likely benign g.44922880A>G g.45063635A>G KDM6A(NM_001291415.1):c.1897A>G (p.T633A) - KDM6A_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.1751C>T r.(?) p.(Thr584Met) - benign, likely benign g.44922890C>T g.45063645C>T KDM6A(NM_001291415.1):c.1907C>T (p.T636M), KDM6A(NM_021140.2):c.1751C>T (p.(Thr584Met)) - KDM6A_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.1792A>G r.(?) p.(Ile598Val) - likely benign g.44922931A>G g.45063686A>G KDM6A(NM_021140.2):c.1792A>G (p.(Ile598Val)) - KDM6A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1823C>T r.(?) p.(Pro608Leu) - VUS g.44922962C>T g.45063717C>T KDM6A(NM_021140.2):c.1823C>T (p.(Pro608Leu)) - KDM6A_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 16 c.1846_1849del r.(?) p.(Thr616Tyrfs*8) - pathogenic, pathogenic (dominant) g.44922985_44922988del g.45063740_45063743del 1846_1849delACTC - KDM6A_000007 - author, submitted, PubMed: Micale 2014 - - Germline, Unknown ? - - - - Johan den Dunnen, Giuseppe Merla
?/. 2 - c.1862G>A r.(?) p.(Arg621His) - VUS g.44923001G>A - KDM6A(NM_001291415.1):c.2018G>A (p.R673H) - KDM6A_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.1868A>C r.(?) p.(Asn623Thr) - VUS g.44923007A>C - KDM6A(NM_001291415.1):c.2024A>C (p.N675T) - KDM6A_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 16 c.1909_1912del r.1909_1912del p.Ser637Thrfs*53 - pathogenic (dominant) g.44923048_44923051del g.45063803_45063806del 1909_1912delTCTA - KDM6A_000012 - PubMed: Miyake 2013, OMIM:var0005 - - De novo yes - - - - Johan den Dunnen
?/. 1 - c.1923+4A>G r.spl? p.? - VUS g.44923066A>G g.45063821A>G KDM6A(NM_001291415.1):c.2079+4A>G - KDM6A_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1973G>A r.(?) p.(Arg658Gln) - likely benign g.44928873G>A g.45069628G>A KDM6A(NM_001291415.1):c.2129G>A (p.R710Q) - KDM6A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2126A>G r.(?) p.(Gln709Arg) - VUS g.44929026A>G g.45069781A>G KDM6A(NM_001291415.1):c.2282A>G (p.Q761R) - KDM6A_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 17 c.2177C>A r.(?) p.(Thr726Lys) - VUS g.44929077C>A g.45069832C>A - - KDM6A_000001 recurrent, found 29 times PubMed: Tarpey 2009 - - Germline - 29/208 cases - - - Lucy Raymond
+/. 1 17 c.2226_2227dup r.(?) p.(Ser743Thrfs*13) - pathogenic (dominant) g.44929126_44929127dup g.45069881_45069882dup 2226_2227dupCA - KDM6A_000025 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - Germline yes - - - - Nina Bögershausen
+/. 1 16 c.2263_2272del r.(?) p.(Thr755Leufs*16) - pathogenic (dominant) g.44929163_44929172del g.45069918_45069927del 2257_2266del10 - KDM6A_000056 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - - - Johan den Dunnen
-?/., ?/. 2 - c.2331T>A r.(?) p.(Asn777Lys) - likely benign, VUS g.44929231T>A g.45069986T>A KDM6A(NM_001291415.1):c.2487T>A (p.N829K), KDM6A(NM_021140.2):c.2331T>A (p.(Asn777Lys)) - KDM6A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.2387C>T r.(?) p.(Thr796Ile) - VUS g.44929287C>T g.45070042C>T KDM6A(NM_001291415.1):c.2543C>T (p.T848I) - KDM6A_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2402A>G r.(?) p.(Asn801Ser) - VUS g.44929302A>G g.45070057A>G - - KDM6A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2423A>G r.(?) p.(His808Arg) - VUS g.44929323A>G g.45070078A>G KDM6A(NM_001291415.1):c.2579A>G (p.H860R) - KDM6A_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2503C>T r.(?) p.(Gln835Ter) - pathogenic g.44929403C>T g.45070158C>T KDM6A(NM_001291415.1):c.2659C>T (p.Q887*) - KDM6A_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 17 c.2515_2518del r.(?) p.(Asn839Valfs*27) - pathogenic (dominant) g.44929415_44929418del g.45070170_45070173del - - KDM6A_000111 - PubMed: Lederer 2014 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.2605G>T r.(?) p.(Asp869Tyr) - VUS g.44929505G>T g.45070260G>T KDM6A(NM_001291415.1):c.2761G>T (p.D921Y) - KDM6A_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2689C>G r.(?) p.(Leu897Val) - likely benign g.44929589C>G g.45070344C>G - - KDM6A_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.2703-16T>C r.(=) p.(=) - benign g.44935926T>C g.45076681T>C KDM6A(NM_001291415.1):c.2859-16T>C - KDM6A_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 17i c.2703-6_2703-5del r.(?) p.(=) - likely benign g.44935936_44935937del g.45076691_45076692del - - KDM6A_000016 - - - - Germline - - - - - Yu Sun
-/., -?/. 5 17i c.2703-5del r.(?), r.spl? p.(=), p.? - benign, likely benign g.44935924del, g.44935937del g.45076692del 2703-18del, 1 more item - KDM6A_000017, KDM6A_000052 VKGL data sharing initiative Nederland, 1 more item - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 18 c.2729A>G r.(?) p.(Asn910Ser) - VUS g.44935968A>G g.45076723A>G - - KDM6A_000026 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - Germline - - - - - Nina Bögershausen
?/. 1 - c.2732G>C r.(?) p.(Ser911Thr) - VUS g.44935971G>C g.45076726G>C KDM6A(NM_001291415.1):c.2888G>C (p.S963T) - KDM6A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.2813C>T r.(?) p.(Pro938Leu) - likely pathogenic g.44936052C>T - KDM6A(NM_001291415.1):c.2969C>T (p.P990L) - KDM6A_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.2821C>T r.(?) p.(Pro941Ser) ACMG likely pathogenic g.44936060C>T g.45076815C>T - - KDM6A_000098 - PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
+/. 1 18i c.2832+1G>A r.spl p.? - pathogenic (dominant) g.44936072G>A g.45076827G>A - - KDM6A_000032 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - De novo yes - - - - Nina Bögershausen
+/., ?/. 2 19, 20 c.2939A>T r.(?), r.(spl?) p.(Asp980Val) - pathogenic, VUS g.44938391A>T g.45079146A>T - - KDM6A_000006 - author, submitted, PubMed: Micale 2014 - - Germline, Unknown ? - - - - Johan den Dunnen, Giuseppe Merla
+/. 1 20 c.3073A>G r.(?) p.(Ser1025Gly) - pathogenic (dominant) g.44938525A>G g.45079280A>G - - KDM6A_000027 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - Germline yes - - - - Nina Bögershausen
-?/. 1 - c.3098C>A r.(?) p.(Ala1033Asp) ACMG likely benign g.44938550C>A g.45079305C>A - - KDM6A_000099 - PubMed: Faundes 2018 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.3105T>C r.(?) p.(Tyr1035=) - likely benign g.44938557T>C g.45079312T>C KDM6A(NM_001291415.1):c.3261T>C (p.Y1087=) - KDM6A_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 20 c.3109C>T r.(?) p.(Gln1037*) - pathogenic (dominant) g.44938561C>T g.45079316C>T - - KDM6A_000024 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - - De novo yes - - - - Nina Bögershausen
-/., -?/. 5 20 c.3111G>A r.(?) p.(Gln1037=) - benign, likely benign g.44938563G>A g.45079318G>A KDM6A(NM_021140.3):c.3111G>A (p.Q1037=), Q1037Q - KDM6A_000002, KDM6A_000018 recurrent, found 27 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 27/208 cases - - - Yu Sun, Lucy Raymond, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 21 c.3145G>A r.(?) p.(Glu1049Lys) - VUS g.44941821G>A g.45082576G>A - - KDM6A_000082 - - - - Germline yes - - - - Ehsan Jafarinia
+/. 1 20i_29_ c.(3144+1_3145-1)_(*1191_?)del r.? p.? - pathogenic g.(44938597_44941820)_(44971847_?)del - - - KDM6A_000009 - PubMed: Lederer 2012 - - De novo yes - - - - Johan den Dunnen
+/. 2 21 c.3200C>A r.(?) p.(Ser1067*) ACMG pathogenic g.44941876C>A g.45082631C>A - - KDM6A_000021 - PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.3224_3226dup r.(?) p.(Arg1075dup) ACMG VUS g.44941974_44941976dup g.45082729_45082731dup 3214_3215insGGA - KDM6A_000100 - PubMed: Faundes 2018 - - Germline - - - - - Johan den Dunnen
+/. 2 22i c.3284+1G>T r.spl p.? - pathogenic (dominant) g.44942035G>T g.45082790G>T - - KDM6A_000112 - PubMed: Banka 2014, PubMed: Morgan 2015 - - Unknown - - - - - Johan den Dunnen
+/., +?/. 2 22i c.3284+3_3284+6del r.spl, r.spl? p.? - likely pathogenic, pathogenic (dominant) g.44942037_44942040del g.45082792_45082795del 3284+3_3284+6delAAGT - KDM6A_000008 - author, submitted, PubMed: Micale 2014 - - De novo, Unknown yes - - - - Johan den Dunnen, Giuseppe Merla
+/. 1 23 c.3354_3356del r.(?) p.(Leu1119del) - pathogenic (dominant) g.44942774_44942776del g.45083529_45083531del 3354_3356delTCT - KDM6A_000005 - PubMed: Miyake 2013, OMIM:var0004 - - De novo yes - - - - Noriko Miyake
+/. 1 24 c.3501del r.(?) p.(Phe1167Leufs*11) - pathogenic (dominant) g.44945177del g.45085932del - - KDM6A_000113 - PubMed: Banka 2014 - - Unknown - - - - - Johan den Dunnen
+/. 1 24i c.3548+2T>C r.spl p.? - pathogenic (dominant) g.44945226T>C g.45085981T>C - - KDM6A_000114 - PubMed: Banka 2014 - - Unknown - - - - - Johan den Dunnen
+?/. 1 - c.3549-1G>A r.spl? p.? - likely pathogenic g.44948987G>A g.45089742G>A - - KDM6A_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.3668G>A r.(?) p.(Gly1223Asp) ACMG likely pathogenic g.44949107G>A g.45089862G>A - - KDM6A_000101 - PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.3678T>C r.(?) p.(His1226=) - likely benign g.44949117T>C g.45089872T>C KDM6A(NM_001291415.1):c.3834T>C (p.H1278=) - KDM6A_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 25 c.3717G>A r.(?) p.(Trp1239*) - pathogenic (dominant) g.44949156G>A g.45089911G>A - - KDM6A_000004 - PubMed: Miyake 2013, OMIM:var0002 - - Germline yes - - - - Noriko Miyake
+/. 1 25i c.3736+2T>C r.spl p.? - pathogenic (dominant) g.44949177T>C g.45089932T>C - - KDM6A_000115 - PubMed: Van Laarhoven 2015 - - Unknown - - - - - Johan den Dunnen
+/., +?/. 2 26 c.3763C>T r.(?) p.(Arg1255Trp) ACMG likely pathogenic, pathogenic (dominant) g.44949994C>T g.45090749C>T - - KDM6A_000028 - PubMed: Bögershausen 2016, Journal: Bögershausen 2016, PubMed: Faundes 2018 - - De novo yes - - - - Johan den Dunnen, Nina Bögershausen
+/. 1 26 c.3835C>T r.(?) p.(Arg1279*) - pathogenic g.44950066C>T g.45090821C>T NG_016260.1:g.222644C>T - KDM6A_000014 - - - - De novo - - - - - Glynis Frans
-?/. 1 - c.3849C>T r.(?) p.(Val1283=) - likely benign g.44950080C>T g.45090835C>T KDM6A(NM_001291415.1):c.4005C>T (p.V1335=) - KDM6A_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 26i c.3876_3878+1del r.spl p.? - pathogenic (dominant) g.44950112_44950115del g.45090867_45090870del - - KDM6A_000074 - PubMed: Cheon 2014 - - Unknown - - - - - Johan den Dunnen
+/., +?/. 2 26i c.3878+3_3878+6del r.spl, r.spl? p.? - likely pathogenic, pathogenic (dominant) g.44950112_44950115del g.45090867_45090870del KDM6A(NM_001291415.1):c.4032_4034+1delTAAG - KDM6A_000074 VKGL data sharing initiative Nederland PubMed: Banka 2014 - - CLASSIFICATION record, Unknown - - - - - Johan den Dunnen, VKGL-NL_VUmc
Legend   How to query   « First ‹ Prev     1 2     Next › Last »