Full data view for gene KDM5C

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

162 entries on 2 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     
+/. - c.1A>G r.(?) p.(Met1?) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.80C>T r.(?) p.(Pro27Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.80C>T r.(?) p.(Pro27Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.89A>G r.(?) p.(Tyr30Cys) Unknown - likely pathogenic g.53253983T>C g.53224801T>C - - KDM5C_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.94dup r.(?) p.(Ala32GlyfsTer43) Unknown - likely pathogenic g.53253978dup g.53224796dup - - KDM5C_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.150+1G>T r.spl p.? Unknown - likely pathogenic g.53253921C>A g.53224739C>A - - KDM5C_000071 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - (Germany) - - 0 - - 1 IMGAG
+/. 2 c.151dup r.spl? p.(Asp51Glyfs*24) Maternal (confirmed) ACMG pathogenic g.53250099dup g.53220917dup - - KDM5C_000138 - Leonardi 2022, submitted - - Germline - - - 0 - DNA SEQ-NG-I - X chromosome exome sequencing MRXSCJ PL-3 III:1 Leonardi 2022, submitted Family diagnosed by Dept. of Medical Genetics, Institute of Mother and Child, Poland. Two generation family: asymptomatic mother; three maternal uncles with MRSXCJ M ? Poland - - 0 - - 3 Emanuela Leonardi
+/. 2 c.151dup r.spl? p.(Asp51Glyfs*24) Unknown ACMG pathogenic g.53250099dup g.53220917dup - - KDM5C_000138 - Leonardi 2022, submitted - - Germline yes - - 0 XCI Skewed (100%-0) DNA SEQ - - MRXSCJ PL-3 II:9 Leonardi 2022, submitted Dept. of Medical Genetics, Institute of Mother and Child, Poland F ? Poland - - 0 - - 2 Emanuela Leonardi
+/. 2 c.151dup r.spl? p.(Asp51Glyfs*24) Unknown ACMG pathogenic g.53250099dup g.53220917dup - - KDM5C_000138 - Leonardi 2022, submitted - - Germline yes - - 0 - DNA SEQ - - MRXSCJ PL-3 II:4 Leonardi 2022, submitted Family diagnosed by Dept. of Medical Genetics, Institute of Mother and Child, Poland M ? Poland - - 0 - - 1 Emanuela Leonardi
+/. - c.202C>T r.(?) p.(Arg68Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229-382T>C r.(=) p.(=) Maternal (inferred) - VUS g.53247962A>G g.53218780A>G - - KDM5C_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.229-382T>C r.(=) p.(=) Maternal (inferred) - VUS g.53247962A>G g.53218780A>G - - KDM5C_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.254A>T r.(?) p.(Tyr85Phe) Maternal (confirmed) ACMG VUS g.53247555T>A g.53218373T>A - - KDM5C_000120 - PubMed: Faundes 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? 270916 PubMed: Faundes 2018 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 3 c.332A>T r.(?) p.(Asp111Val) Unknown ACMG pathogenic g.53247477T>A g.53218295T>A - - KDM5C_000137 de novo in patient, mosaic Leonardi 2022, submitted - - De novo - - - 0 - DNA SEQ-NG-IT - Gene panel MRXSCJ PD-3827 Leonardi 2022, submitted - M ? Italy - - 0 - - 1 Emanuela Leonardi
?/. - c.406C>T r.(?) p.(Arg136Trp) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.408G>C r.(?) p.(Arg136=) Unknown - likely benign g.53247092C>G - KDM5C(NM_004187.3):c.408G>C (p.R136=) - KDM5C_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.415C>T r.(?) p.(Gln139Ter) Unknown - likely pathogenic g.53247085G>A g.53217903G>A - - KDM5C_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.423C>T r.(?) p.(Leu141=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.470A>G r.(?) p.(Tyr157Cys) Unknown - likely pathogenic g.53247030T>C - KDM5C(NM_004187.3):c.470A>G (p.Y157C) - KDM5C_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.490T>A r.(?) p.(Tyr164Asn) Both (homozygous) ACMG VUS g.53247010A>T g.53217828A>T - - KDM5C_000133 - PubMed: Hu 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ID M8900207 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iran Persia - 0 - - 3 Johan den Dunnen
-/. - c.522+19G>A r.(=) p.(=) Unknown - benign g.53246959C>T g.53217777C>T KDM5C(NM_004187.4):c.522+19G>A - KDM5C_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.536G>A r.(?) p.(Arg179His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/? 5 c.564G>A r.(?) p.(=) Parent #1 - likely benign g.53246418C>T g.53217236C>T K188K - KDM5C_000004 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377125-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.573A>G r.(?) p.(Lys191=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.592C>T r.(?) p.(Arg198*) Unknown ACMG likely pathogenic g.53246390G>A g.53217208G>A - - KDM5C_000107 ACMG PVS1, PM2; class 4; - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
?/. - c.631C>T r.(?) p.(Arg211Trp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
./. - c.658-1G>T r.spl? p.? Maternal (confirmed) - pathogenic g.53245380C>A g.53216198C>A - - KDM5C_000027 splice variant PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
+/. - c.658-1G>T r.spl p.? Maternal (confirmed) ACMG pathogenic g.53245380C>A g.53216198C>A - - KDM5C_000027 - PubMed: Faundes 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? 260079 PubMed: Faundes 2018 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.791G>A r.(?) p.(Gly264Glu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.875T>C r.(?) p.(Leu292Pro) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.880A>G r.(?) p.(Ser294Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.896G>A r.(?) p.(Ser299Asn) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.963+1G>T r.spl? p.? Unknown - likely pathogenic g.53244976C>A g.53215794C>A - - KDM5C_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7i c.963+2T>C r.spl? p.? Unknown ACMG pathogenic g.53244975A>G g.53215793A>G - - KDM5C_000136 - Leonardi 2022, submitted - - De novo - - - 0 - DNA SEQ-NG-I - - MRXSCJ NA-UKLB1/DECIPHER264839 Leonardi 2022, submitted Patient diagnosed by Medical Genetic Unit, St George’s University of London, South West Thames Regional Genetics Services M ? England - - 0 - - 1 Emanuela Leonardi
?/. - c.1111T>A r.(?) p.(Cys371Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1112G>A r.(?) p.(Cys371Tyr) Maternal (confirmed) - VUS g.53243881C>T - - - KDM5C_000135 - - - - Germline - - - - - DNA SEQ-NG - WES ID 209P - - M no Spain - - - - - 1 Alejandro Brea-Fernández
+?/. - c.1122+1G>A r.spl p.(?) Unknown - likely pathogenic g.53243870C>T - - - KDM5C_000125 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 IMGAG
+/. 8i c.1123-1G>A r.spl p.? Unknown - pathogenic (recessive) g.53241089C>T g.53211907C>T - - KDM5C_000076 - - - - De novo yes - - 0 - DNA SEQ-NG-I Peripheral blood WES AUTSX2 - - - M no China Eastern Asian 04y 0 - - 1 Ke Xu
?/. - c.1226T>C r.(?) p.(Phe409Ser) Maternal (confirmed) - VUS g.53240985A>G - - - KDM5C_000134 - - - - Germline - - - - - DNA SEQ-NG - WES MRXSCJ 148P - - M no Spain - - - - - 1 Alejandro Brea-Fernández
-?/. - c.1236C>T r.(?) p.(Pro412=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1243-2A>G r.spl? p.? Unknown - pathogenic g.53240839T>C g.53211657T>C - - KDM5C_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1259T>C r.(?) p.(Leu420Pro) Unknown ACMG likely pathogenic (dominant) g.53240821A>G - - - KDM5C_000142 - Leonardi 2022, submitted - - Germline ? - - - - DNA SEQ-NG-IT - Gene panel MRXSCJ PD-3535 Leonardi 2022, submitted Diagnosed by Genetics of Neurodevelopmental diosrder, University Hospital of Padova, Italy M ? Albania - - 0 - - 1 Emanuela Leonardi
+?/. - c.1270G>T r.(?) p.(Glu424*) Unknown - likely pathogenic g.53240810C>A g.53211628C>A - - KDM5C_000111 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5410821 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.1296dup r.(?) p.(Glu433*) Maternal (confirmed) - pathogenic (recessive) g.53240785dup g.53211603dup - - KDM5C_000106 - PubMed: Redin 2014 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 233-gene ID panel ID APN-135 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected carrier mother M - France - - 0 - - 1 Johan den Dunnen
-?/. - c.1329C>T r.(?) p.(Asp443=) Unknown - likely benign g.53240751G>A - KDM5C(NM_004187.3):c.1329C>T (p.D443=) - KDM5C_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1399G>T r.(?) p.(Glu467*) Maternal (confirmed) ACMG pathogenic g.53240681C>A g.53211499C>A - - KDM5C_000119 - PubMed: Faundes 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? 281153 PubMed: Faundes 2018 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.1508A>G r.(?) p.(Tyr503Cys) Unknown ACMG likely pathogenic g.53239933T>C g.53210751T>C - - KDM5C_000118 - PubMed: Faundes 2018 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ? 274676 PubMed: Faundes 2018 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.1510G>A r.(?) p.(Val504Met) Unknown ACMG likely pathogenic g.53239931C>T g.53210749C>T - - KDM5C_000117 - PubMed: Faundes 2018 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ? 273566 PubMed: Faundes 2018 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.1573T>G r.(?) p.(Tyr525Asp) Unknown - likely pathogenic g.53239868A>C - KDM5C(NM_004187.4):c.1573T>G (p.Y525D) - KDM5C_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1592C>T r.(?) p.(Pro531Leu) Unknown - VUS g.53239750G>A g.53210568G>A - - KDM5C_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 12 c.1592C>T r.(?) p.(Pro531Leu) Maternal (confirmed) ACMG likely pathogenic (maternal) g.53239750G>A - - - KDM5C_000067 - Leonardi 2022, submitted VCV001209957 - Germline - - - 0 - DNA SEQ-NG-I - - MRXSCJ UDNRM1018C.A Leonardi 2022, submitted Diagnosed by University of Campania “Luigi Vanvitelli”; Caserta, Italy M ? Italy - - 0 - - 1 Emanuela Leonardi
./. - c.1599del r.(?) p.(Trp534Glyfs*15) Maternal (confirmed) - pathogenic g.53239744del g.53210562del KDM5C W534Gfs*15 - KDM5C_000074 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamN163 PubMed: Hu 2016 family, 3 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 3 Johan den Dunnen
+?/. - c.1602G>T r.(?) p.(Trp534Cys) Unknown - likely pathogenic g.53239740C>A - KDM5C(NM_004187.3):c.1602G>T (p.W534C) - KDM5C_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1646T>C r.(?) p.(Met549Thr) Unknown - VUS g.53239696A>G g.53210514A>G KDM5C(NM_004187.3):c.1646T>C - KDM5C_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 12 c.1697A>T r.(?) p.(Gln566Leu) Maternal (confirmed) ACMG pathogenic (dominant) g.53239645T>A - - - KDM5C_000141 - Leonardi 2022, submitted - - Germline yes - - - - DNA SEQ-NG-I - X chromosome exome sequencing MRXSCJ PL-1 III1 Leonardi 2022, submitted Diagnosed by Department of Clinical Genetics, Medical University in Bialystok, Bialystok, Poland M ? Poland - - 0 - - 1 Emanuela Leonardi
-?/? 13 c.1764G>A r.(?) p.(=) Parent #1 - likely benign g.53231138C>T g.53201956C>T Q588Q - KDM5C_000001 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377122-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-/. - c.1764G>A r.(?) p.(Gln588=) Unknown - 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=) - KDM5C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1764G>A r.(?) p.(Gln588=) Unknown - 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=) - KDM5C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1793C>T r.(?) p.(Pro598Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1793C>T r.(?) p.(Pro598Leu) Unknown - likely pathogenic g.53231109G>A - KDM5C(NM_004187.3):c.1793C>T (p.P598L) - KDM5C_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1794C>T r.(?) p.(Pro598=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1794C>T r.(?) p.(Pro598=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1795C>T r.(?) p.(Arg599Cys) Maternal (confirmed) ACMG likely pathogenic g.53231107G>A g.53201925G>A - - KDM5C_000116 - PubMed: Faundes 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? 277981 PubMed: Faundes 2018 - - - - - - 0 - - 1 Johan den Dunnen
+/. 13 c.1795C>T r.(?) p.(Arg599Cys) Unknown ACMG pathogenic g.53231107G>A - - - KDM5C_000116 - Leonardi 2022, submitted VCV000559937 - De novo - - - - XCI skewed (86%/14%) DNA SEQ-NG-IT - Gene panel MRXSCJ PD-3597 Leonardi 2022, submitted Diagnosed by Molecular Genetics of Neurodevelopment, Dept. of Women's and Children's Health, University of Padova, Italy F no Italy - - 0 - - 1 Emanuela Leonardi
?/. - c.1810G>A r.(?) p.(Gly604Ser) Unknown - VUS g.53231092C>T - KDM5C(NM_004187.3):c.1810G>A (p.G604S) - KDM5C_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1823G>A r.(?) p.(Gly608Asp) Unknown - likely pathogenic g.53231079C>T - KDM5C(NM_004187.4):c.1823G>A (p.G608D) - KDM5C_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1864T>G r.(?) p.(Trp622Gly) Unknown - likely pathogenic g.53231038A>C - - - KDM5C_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1898A>T r.(?) p.(Tyr633Phe) Unknown - pathogenic g.53230895T>A g.53201713T>A - - KDM5C_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1916dup r.(?) p.(Tyr639*) Unknown - pathogenic g.53230877dup - KDM5C(NM_004187.3):c.1916dupA (p.Y639*) - KDM5C_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1933G>T r.(?) p.(Glu645Ter) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1989G>A r.(?) p.(Ala663=) Unknown - likely benign g.53230804C>T - KDM5C(NM_004187.3):c.1989G>A (p.A663=) - KDM5C_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2041C>T r.(?) p.(Arg681Ter) Unknown - pathogenic g.53230752G>A g.53201570G>A - - KDM5C_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2041C>T r.(?) p.(Arg681Ter) Unknown - pathogenic g.53230752G>A - - - KDM5C_000099 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 IMGAG
-?/. - c.2046G>A r.(?) p.(Lys682=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.2047del r.(?) p.(Ala683Profs*81) Maternal (confirmed) - pathogenic g.53230747del g.53201565del - - KDM5C_000013 healthy mother skewed X-inactivation (98:2). PubMed: Tzschach 2015 - - Germline yes - - 0 - DNA SEQ - - MRX;IDX Fam8 PubMed: Tzschach 2015 2-generation family, 2 affected brothers, unaffected carrier mother M - ? (unknown) ? - 0 - - 2 Andreas Tzschach
+/. - c.2080C>T r.(?) p.(Arg694*) Unknown - pathogenic g.53228322G>A - KDM5C(NM_004187.3):c.2080C>T (p.R694*) - KDM5C_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2110G>A r.(?) p.(Glu704Lys) Unknown - likely pathogenic g.53228292C>T g.53199110C>T - - KDM5C_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2120G>A r.(?) p.(Cys707Tyr) Maternal (confirmed) - pathogenic g.53228282C>T - NM_001146702:c.1919G>A - KDM5C_000121 - PubMed: Vissers 2010 - - Germline - - - 0 - DNA SEQ, SEQ-NG - trio WES ID MRtrio10 PubMed: Vissers 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M - (Netherlands) - - 0 - - 1 Johan den Dunnen
?/? 15 c.2138C>T r.(?) p.(Thr713Met) Parent #1 - VUS g.53228264G>A g.53199082G>A - - KDM5C_000002 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377123-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.2152G>C r.(?) p.(Ala718Pro) Unknown - pathogenic (recessive) g.53228250C>G g.53199068C>G - - KDM5C_000105 - PubMed: Redin 2014 - - De novo - - - 0 - DNA SEQ, SEQ-NG - 232-gene ID panel ID APN-34 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier mother M - France - - 0 - - 1 Johan den Dunnen
+?/. - c.2170dup r.(?) p.(Cys724LeufsTer13) Unknown - likely pathogenic g.53228232dup g.53199050dup - - KDM5C_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 15i c.2243+1G>T r.spl p.? Maternal (confirmed) ACMG pathogenic g.53228158C>A - - - KDM5C_000139 - Leonardi 2022, submitted - - Germline - - - 0 - DNA SEQ-NG-I - WGS MRXSCJ NA-LE Leonardi 2022, submitted - M ? Italy - - 0 - - 1 Emanuela Leonardi
./. - c.2243+2T>C r.spl? p.? Maternal (inferred) - pathogenic g.53228157A>G g.53198975A>G KDM5C splice donor - KDM5C_000073 - PubMed: Hu 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamD130 PubMed: Hu 2016 family, 1 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.2243+7A>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2243+7A>G r.(=) p.(=) Unknown - likely benign g.53228152T>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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2243+11G>T r.(=) p.(=) Maternal (inferred) - VUS g.53228148C>A g.53198966C>A - - KDM5C_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2243+11G>T r.(=) p.(=) Maternal (inferred) - VUS g.53228148C>A g.53198966C>A - - KDM5C_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.2243+11G>T r.(=) p.(=) Unknown - benign g.53228148C>A g.53198966C>A KDM5C(NM_004187.4):c.2243+11G>T - KDM5C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2243+11G>T r.(=) p.(=) Unknown - benign g.53228148C>A g.53198966C>A KDM5C(NM_004187.4):c.2243+11G>T - KDM5C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2267T>C r.(?) p.(Leu756Pro) Unknown - VUS g.53228047A>G - KDM5C(NM_004187.4):c.2267T>C (p.L756P) - KDM5C_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2296C>T r.(?) p.(Arg766Trp) Unknown - VUS g.53228018G>A g.53198836G>A - - KDM5C_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2299G>T r.(?) p.(Ala767Ser) Unknown - VUS g.53228015C>A g.53198833C>A - - KDM5C_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2315C>A r.(?) p.(Thr772Asn) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 17i c.2517-285T>C r.(?) p.(=) Both (homozygous) - VUS g.53227343A>G g.53198161A>G - - KDM5C_000005 - PubMed: Almomani 2011 - rs2182285 Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD, TSC - PubMed: Almomani 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 17i c.2517-285T>C r.(?) p.(=) Maternal (inferred) - VUS g.53227343A>G g.53198161A>G - - KDM5C_000005 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 17i c.2517-285T>C r.(?) p.(=) Maternal (inferred) - VUS g.53227343A>G g.53198161A>G - - KDM5C_000005 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.2517-9_2517-7dup r.(=) p.(=) Unknown - likely benign g.53227066_53227068dup g.53197884_53197886dup KDM5C(NM_001146702.1):c.2316-7_2316-6insACT (p.(=)), KDM5C(NM_004187.4):c.2517-11_2517-10insTAC, KDM5C(NM_004187.4):c.2517-9_2517-7dupACT - KDM5C_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2517-9_2517-7dup r.(=) p.(=) Unknown - likely benign g.53227066_53227068dup g.53197884_53197886dup KDM5C(NM_001146702.1):c.2316-7_2316-6insACT (p.(=)), KDM5C(NM_004187.4):c.2517-11_2517-10insTAC, KDM5C(NM_004187.4):c.2517-9_2517-7dupACT - KDM5C_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2517-9_2517-7dup r.(=) p.(=) Unknown - likely benign g.53227066_53227068dup g.53197884_53197886dup KDM5C(NM_001146702.1):c.2316-7_2316-6insACT (p.(=)), KDM5C(NM_004187.4):c.2517-11_2517-10insTAC, KDM5C(NM_004187.4):c.2517-9_2517-7dupACT - KDM5C_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2529G>T r.(?) p.(Val843=) Unknown - likely benign g.53227046C>A - KDM5C(NM_004187.3):c.2529G>T (p.V843=) - KDM5C_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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