Unique variants in the KDM5C gene

Information The variants shown are described using the NM_004187.3 transcript reference sequence.

105 entries on 2 pages. Showing entries 1 - 100.
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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 - c.1A>G r.(?) p.(Met1?) - pathogenic g.53254071T>C g.53224889T>C KDM5C(NM_004187.3):c.1A>G (p.M1?) - KDM5C_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.80C>T r.(?) p.(Pro27Leu) - VUS g.53253992G>A g.53224810G>A KDM5C(NM_004187.4):c.80C>T (p.P27L) - KDM5C_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 - c.89A>G r.(?) p.(Tyr30Cys) - likely pathogenic g.53253983T>C g.53224801T>C - - KDM5C_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.94dup r.(?) p.(Ala32GlyfsTer43) - likely pathogenic g.53253978dup g.53224796dup - - KDM5C_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.150+1G>T r.spl p.? - likely pathogenic g.53253921C>A g.53224739C>A - - KDM5C_000071 - - - - Unknown - - - - - IMGAG
+/. 1 - c.202C>T r.(?) p.(Arg68Ter) - pathogenic g.53250047G>A g.53220865G>A KDM5C(NM_004187.3):c.202C>T (p.R68*) - KDM5C_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.229-382T>C r.(=) p.(=) - VUS g.53247962A>G g.53218780A>G - - KDM5C_000020 - - - - Germline - - - - - Yu Sun
?/. 1 - c.254A>T r.(?) p.(Tyr85Phe) ACMG VUS g.53247555T>A g.53218373T>A - - KDM5C_000120 - PubMed: Faundes 2018 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.406C>T r.(?) p.(Arg136Trp) - VUS g.53247094G>A g.53217912G>A KDM5C(NM_001146702.1):c.205C>T (p.(Arg69Trp)) - KDM5C_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.408G>C r.(?) p.(Arg136=) - likely benign g.53247092C>G - KDM5C(NM_004187.3):c.408G>C (p.R136=) - KDM5C_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.415C>T r.(?) p.(Gln139Ter) - likely pathogenic g.53247085G>A g.53217903G>A - - KDM5C_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.423C>T r.(?) p.(Leu141=) - likely benign g.53247077G>A g.53217895G>A KDM5C(NM_004187.3):c.423C>T (p.L141=) - KDM5C_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.470A>G r.(?) p.(Tyr157Cys) - likely pathogenic g.53247030T>C - KDM5C(NM_004187.3):c.470A>G (p.Y157C) - KDM5C_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.522+19G>A r.(=) p.(=) - benign g.53246959C>T g.53217777C>T KDM5C(NM_004187.4):c.522+19G>A - KDM5C_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.536G>A r.(?) p.(Arg179His) - likely benign g.53246446C>T g.53217264C>T KDM5C(NM_004187.3):c.536G>A (p.R179H) - KDM5C_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/? 1 5 c.564G>A r.(?) p.(=) - likely benign g.53246418C>T g.53217236C>T K188K - KDM5C_000004 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - Lucy Raymond
-?/. 1 - c.573A>G r.(?) p.(Lys191=) - likely benign g.53246409T>C g.53217227T>C KDM5C(NM_004187.3):c.573A>G (p.K191=) - KDM5C_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.592C>T r.(?) p.(Arg198*) ACMG likely pathogenic g.53246390G>A g.53217208G>A - - KDM5C_000107 ACMG PVS1, PM2; class 4; - - - Germline - - - - - Andreas Laner
?/. 1 - c.631C>T r.(?) p.(Arg211Trp) - VUS g.53246351G>A g.53217169G>A KDM5C(NM_004187.4):c.631C>T (p.R211W) - KDM5C_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., ./. 2 - c.658-1G>T r.spl, r.spl? p.? ACMG pathogenic g.53245380C>A g.53216198C>A - - KDM5C_000027 splice variant PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Faundes 2018 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.791G>A r.(?) p.(Gly264Glu) - VUS g.53245149C>T g.53215967C>T KDM5C(NM_001146702.1):c.590G>A (p.(Gly197Glu)) - KDM5C_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.875T>C r.(?) p.(Leu292Pro) - VUS g.53245065A>G g.53215883A>G KDM5C(NM_001146702.1):c.674T>C (p.(Leu225Pro)) - KDM5C_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.880A>G r.(?) p.(Ser294Gly) - VUS g.53245060T>C g.53215878T>C KDM5C(NM_004187.3):c.880A>G (p.S294G) - KDM5C_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.896G>A r.(?) p.(Ser299Asn) - likely benign g.53245044C>T g.53215862C>T KDM5C(NM_001146702.1):c.695G>A (p.(Ser232Asn)) - KDM5C_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.963+1G>T r.spl? p.? - likely pathogenic g.53244976C>A g.53215794C>A - - KDM5C_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1111T>A r.(?) p.(Cys371Ser) - VUS g.53243882A>T g.53214700A>T KDM5C(NM_004187.3):c.1111T>A (p.C371S) - KDM5C_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1122+1G>A r.spl p.(?) - likely pathogenic g.53243870C>T - - - KDM5C_000125 - - - - Unknown - - - - - IMGAG
+/. 1 8i c.1123-1G>A r.spl p.? - pathogenic (recessive) g.53241089C>T g.53211907C>T - - KDM5C_000076 - - - - De novo yes - - - - Ke Xu
-?/. 1 - c.1236C>T r.(?) p.(Pro412=) - likely benign g.53240975G>A g.53211793G>A KDM5C(NM_004187.4):c.1236C>T (p.P412=) - KDM5C_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1243-2A>G r.spl? p.? - pathogenic g.53240839T>C g.53211657T>C - - KDM5C_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1270G>T r.(?) p.(Glu424*) - likely pathogenic g.53240810C>A g.53211628C>A - - KDM5C_000111 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.1296dup r.(?) p.(Glu433*) - pathogenic (recessive) g.53240785dup g.53211603dup - - KDM5C_000106 - PubMed: Redin 2014 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1329C>T r.(?) p.(Asp443=) - likely benign g.53240751G>A - KDM5C(NM_004187.3):c.1329C>T (p.D443=) - KDM5C_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1399G>T r.(?) p.(Glu467*) ACMG pathogenic g.53240681C>A g.53211499C>A - - KDM5C_000119 - PubMed: Faundes 2018 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.1508A>G r.(?) p.(Tyr503Cys) ACMG likely pathogenic g.53239933T>C g.53210751T>C - - KDM5C_000118 - PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.1510G>A r.(?) p.(Val504Met) ACMG likely pathogenic g.53239931C>T g.53210749C>T - - KDM5C_000117 - PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.1573T>G r.(?) p.(Tyr525Asp) - likely pathogenic g.53239868A>C - KDM5C(NM_004187.4):c.1573T>G (p.Y525D) - KDM5C_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1592C>T r.(?) p.(Pro531Leu) - VUS g.53239750G>A g.53210568G>A - - KDM5C_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 1 - c.1599del r.(?) p.(Trp534Glyfs*15) - pathogenic g.53239744del g.53210562del KDM5C W534Gfs*15 - KDM5C_000074 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.1602G>T r.(?) p.(Trp534Cys) - likely pathogenic g.53239740C>A - KDM5C(NM_004187.3):c.1602G>T (p.W534C) - KDM5C_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1646T>C r.(?) p.(Met549Thr) - VUS g.53239696A>G g.53210514A>G KDM5C(NM_004187.3):c.1646T>C - KDM5C_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/., -?/? 3 13 c.1764G>A r.(?) p.(=), p.(Gln588=) - benign, likely benign g.53231138C>T g.53201956C>T KDM5C(NM_004187.3):c.1764G>A (p.Q588=), KDM5C(NM_004187.4):c.1764G>A (p.Q588=), Q588Q - KDM5C_000001 found once, non-recurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline ? 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 2 - c.1793C>T r.(?) p.(Pro598Leu) - likely pathogenic g.53231109G>A g.53201927G>A KDM5C(NM_004187.3):c.1793C>T (p.P598L) - KDM5C_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 2 - c.1794C>T r.(?) p.(Pro598=) - likely benign g.53231108G>A g.53201926G>A KDM5C(NM_004187.3):c.1794C>T (p.P598=), KDM5C(NM_004187.4):c.1794C>T (p.P598=) - KDM5C_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 1 - c.1795C>T r.(?) p.(Arg599Cys) ACMG likely pathogenic g.53231107G>A g.53201925G>A - - KDM5C_000116 - PubMed: Faundes 2018 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.1823G>A r.(?) p.(Gly608Asp) - likely pathogenic g.53231079C>T - KDM5C(NM_004187.4):c.1823G>A (p.G608D) - KDM5C_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.1864T>G r.(?) p.(Trp622Gly) - likely pathogenic g.53231038A>C - - - KDM5C_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1898A>T r.(?) p.(Tyr633Phe) - pathogenic g.53230895T>A g.53201713T>A - - KDM5C_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1916dup r.(?) p.(Tyr639*) - pathogenic g.53230877dup - KDM5C(NM_004187.3):c.1916dupA (p.Y639*) - KDM5C_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1933G>T r.(?) p.(Glu645Ter) - pathogenic g.53230860C>A g.53201678C>A KDM5C(NM_004187.4):c.1933G>T (p.E645*) - KDM5C_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1989G>A r.(?) p.(Ala663=) - likely benign g.53230804C>T - KDM5C(NM_004187.3):c.1989G>A (p.A663=) - KDM5C_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.2041C>T r.(?) p.(Arg681Ter) - pathogenic g.53230752G>A g.53201570G>A - - KDM5C_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - IMGAG, VKGL-NL_Nijmegen
-?/. 1 - c.2046G>A r.(?) p.(Lys682=) - likely benign g.53230747C>T g.53201565C>T KDM5C(NM_004187.3):c.2046G>A (p.K682=) - KDM5C_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 14 c.2047del r.(?) p.(Ala683Profs*81) - pathogenic g.53230747del g.53201565del - - KDM5C_000013 - - - - Unknown ? - - - - Andreas Tzschach
+/. 1 - c.2080C>T r.(?) p.(Arg694*) - pathogenic g.53228322G>A - KDM5C(NM_004187.3):c.2080C>T (p.R694*) - KDM5C_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.2110G>A r.(?) p.(Glu704Lys) - likely pathogenic g.53228292C>T g.53199110C>T - - KDM5C_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.2120G>A r.(?) p.(Cys707Tyr) - pathogenic g.53228282C>T - NM_001146702:c.1919G>A - KDM5C_000121 - PubMed: Vissers 2010 - - Germline - - - - - Johan den Dunnen
?/? 1 15 c.2138C>T r.(?) p.(Thr713Met) - VUS g.53228264G>A g.53199082G>A - - KDM5C_000002 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - Lucy Raymond
+/. 1 - c.2152G>C r.(?) p.(Ala718Pro) - pathogenic (recessive) g.53228250C>G g.53199068C>G - - KDM5C_000105 - PubMed: Redin 2014 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.2170dup r.(?) p.(Cys724LeufsTer13) - likely pathogenic g.53228232dup g.53199050dup - - KDM5C_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 1 - c.2243+2T>C r.spl? p.? - pathogenic g.53228157A>G g.53198975A>G KDM5C splice donor - KDM5C_000073 - PubMed: Hu 2016 - - Germline - - - - - Johan den Dunnen
-?/. 2 - c.2243+7A>G r.(=) p.(=) - likely benign g.53228152T>C g.53198970T>C KDM5C(NM_001146702.1):c.2042+7A>G (p.(=)), KDM5C(NM_004187.3):c.2243+7A>G - KDM5C_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/., ?/. 4 - c.2243+11G>T r.(=) p.(=) - benign, VUS g.53228148C>A g.53198966C>A KDM5C(NM_004187.4):c.2243+11G>T - KDM5C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.2267T>C r.(?) p.(Leu756Pro) - VUS g.53228047A>G - KDM5C(NM_004187.4):c.2267T>C (p.L756P) - KDM5C_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.2296C>T r.(?) p.(Arg766Trp) - VUS g.53228018G>A g.53198836G>A - - KDM5C_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2299G>T r.(?) p.(Ala767Ser) - VUS g.53228015C>A g.53198833C>A - - KDM5C_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2315C>A r.(?) p.(Thr772Asn) - likely benign g.53227999G>T g.53198817G>T KDM5C(NM_004187.4):c.2315C>A (p.T772N) - KDM5C_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 3 17i c.2517-285T>C r.(?) p.(=) - VUS g.53227343A>G g.53198161A>G - - KDM5C_000005 - PubMed: Almomani 2011 - rs2182285 Germline - - - - - Gerard C.P. Schaafsma, Yu Sun
-?/. 3 - c.2517-9_2517-7dup r.(=) p.(=) - likely benign g.53227066_53227068dup g.53197884_53197886dup 1 more item - KDM5C_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.2572G>A r.(?) p.(Asp858Asn) - likely benign g.53227003C>T g.53197821C>T KDM5C(NM_004187.3):c.2572G>A (p.D858N) - KDM5C_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2595C>T r.(?) p.(Cys865=) - likely benign g.53226980G>A - KDM5C(NM_004187.3):c.2595C>T (p.C865=) - KDM5C_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2599A>G r.(?) p.(Met867Val) - VUS g.53226976T>C - KDM5C(NM_004187.3):c.2599A>G (p.M867V) - KDM5C_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 2 - c.2623-85A>G r.(=) p.(=) - VUS g.53226311T>C g.53197129T>C - - KDM5C_000012 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.2663G>A r.(?) p.(Arg888His) - likely benign g.53226186C>T g.53197004C>T KDM5C(NM_004187.3):c.2663G>A (p.R888H) - KDM5C_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2784G>A r.(?) p.(Ala928=) - likely benign g.53226065C>T g.53196883C>T KDM5C(NM_004187.3):c.2784G>A (p.A928=) - KDM5C_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2818C>G r.(?) p.(Pro940Ala) - VUS g.53226031G>C g.53196849G>C KDM5C(NM_001146702.1):c.2617C>G (p.(Pro873Ala)) - KDM5C_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.2823A>G r.(?) p.(Ser941=) - benign g.53226026T>C g.53196844T>C KDM5C(NM_004187.3):c.2823A>G (p.S941=), KDM5C(NM_004187.4):c.2823A>G (p.S941=) - KDM5C_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.2828G>A r.(?) p.(Arg943Gln) - likely benign g.53226021C>T - KDM5C(NM_004187.4):c.2828G>A (p.R943Q) - KDM5C_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. 1 - c.2908C>T r.(?) p.(Gln970*) - pathogenic g.53225941G>A g.53196759G>A KDM5C Q970* - KDM5C_000072 - PubMed: Hu 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.2944C>T r.(?) p.(Arg982Cys) - VUS g.53225905G>A - KDM5C(NM_004187.3):c.2944C>T (p.R982C) - KDM5C_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.2981+117T>C r.(=) p.(=) - VUS g.53225751A>G g.53196569A>G - - KDM5C_000009 - - - - Germline - - - - - Yu Sun
?/. 2 - c.2982-265A>G r.(=) p.(=) - VUS g.53225501T>C g.53196319T>C - - KDM5C_000006 - - - - Germline - - - - - Yu Sun
+/? 1 - c.3084C>A r.(?) p.(Cys1028*) - pathogenic g.53224428G>T - - - KDM5C_000014 1 more item - - - Germline ? - - - - Andreas Tzschach
-?/. 1 - c.3381A>G r.(?) p.(Lys1127=) - likely benign g.53224170T>C - KDM5C(NM_004187.4):c.3381A>G (p.K1127=) - KDM5C_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.3392_3393del r.(?) p.(Glu1131Alafs*72) - pathogenic g.53224160_53224161del g.53194978_53194979del 3392_3393delAG - KDM5C_000075 - - - - Unknown - - - - - IMGAG
-?/. 1 - c.3456G>A r.(?) p.(Glu1152=) - likely benign g.53223903C>T - KDM5C(NM_004187.3):c.3456G>A (p.E1152=) - KDM5C_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3496C>T r.(?) p.(Arg1166Cys) - VUS g.53223863G>A g.53194681G>A KDM5C(NM_004187.3):c.3496C>T (p.R1166C) - KDM5C_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3533C>T r.(?) p.(Ser1178Leu) - likely benign g.53223826G>A g.53194644G>A KDM5C(NM_004187.3):c.3533C>T (p.S1178L) - KDM5C_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3540G>A r.(?) p.(Thr1180=) - likely benign g.53223819C>T g.53194637C>T KDM5C(NM_004187.3):c.3540G>A (p.T1180=) - KDM5C_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3668C>T r.(?) p.(Pro1223Leu) - VUS g.53223691G>A g.53194509G>A KDM5C(NM_004187.3):c.3668C>T (p.P1223L) - KDM5C_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3766G>A r.(?) p.(Glu1256Lys) - VUS g.53223593C>T g.53194411C>T KDM5C(NM_001146702.1):c.3565G>A (p.(Glu1189Lys)) - KDM5C_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.3820G>A r.(?) p.(Glu1274Lys) - likely pathogenic g.53223539C>T g.53194357C>T - - KDM5C_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.3829G>A r.(?) p.(Ala1277Thr) ACMG VUS g.53223530C>T g.53194348C>T - - KDM5C_000115 - PubMed: Faundes 2018 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.3935G>A r.(?) p.(Arg1312His) - likely benign g.53223424C>T g.53194242C>T KDM5C(NM_004187.3):c.3935G>A (p.R1312H) - KDM5C_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3997T>G r.(?) p.(Ser1333Ala) - likely benign g.53223362A>C g.53194180A>C KDM5C(NM_004187.4):c.3997T>G (p.S1333A) - KDM5C_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.4103G>C r.(?) p.(Gly1368Ala) - VUS g.53222969C>G g.53193787C>G KDM5C(NM_004187.3):c.4103G>C (p.G1368A) - KDM5C_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.4303C>T r.(?) p.(Arg1435Cys) - likely benign g.53222633G>A g.53193451G>A KDM5C(NM_004187.3):c.4303C>T (p.R1435C), KDM5C(NM_004187.4):c.4303C>T (p.R1435C) - KDM5C_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.4441_4442del r.(?) p.(Arg1481GlyfsTer9) - VUS g.53222392_53222393del g.53193210_53193211del KDM5C(NM_004187.3):c.4441_4442del (p.?) - KDM5C_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4634_4636dup r.(?) p.(Pro1545dup) - VUS g.53222197_53222199dup - KDM5C(NM_004187.3):c.4634_4636dupCCC (p.P1545dup) - KDM5C_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/? 2 26 c.4637G>A r.(?) p.(Arg1546Gln) - likely benign, VUS g.53222195C>T g.53193013C>T KDM5C(NM_004187.3):c.4637G>A (p.R1546Q) - KDM5C_000003 found once, non-recurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline ? 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
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