Full data view for gene KDM2A

Information The variants shown are described using the NM_012308.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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     

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Disease     

ID_report     

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Consanguinity     

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Age at death     

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Data_av     

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Panel size     

Owner     
+/. 3 c.58C>T r.(?) p.(Arg20Ter) Unknown ACMG pathogenic (dominant) g.66947565C>T g.67180094C>T - - KDM2A_000006 ACMG PVS1, PS2_MOD, PM2P PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - duo WES NDD Pat12 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. 6 c.422A>G r.(?) p.(Tyr141Cys) Unknown ACMG likely pathogenic (dominant) g.66975095A>G g.67207624A>G - - KDM2A_000007 ACMG PS2_MOD, PS3_MOD, PM2, PP2, PP3 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat1 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. 7 c.579C>G r.(?) p.(Tyr193Ter) Unknown ACMG pathogenic (dominant) g.66982903C>G g.67215432C>G - - KDM2A_000008 ACMG PVS1, PS2_MOD, PM2 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat13 PubMed: Anderson 2026 2-generation family, 1 affected fetus, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. 9 c.704C>T r.(?) p.(Pro235Leu) Unknown ACMG likely pathogenic (dominant) g.66985218C>T g.67217747C>T - - KDM2A_000009 ACMG PS2_MOD, PS3_MOD , PM2, PP2, PP3 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat2 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+?/. 10 c.850C>T r.(?) p.(His284Tyr) Unknown ACMG likely pathogenic (dominant) g.66986767C>T g.67219296C>T - - KDM2A_000010 ACMG PS2_MOD, PM2, PP2, PP3 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat3 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - Anglo-Celtic - - - - 1 Johan den Dunnen
+?/. 10 c.956G>A r.(?) p.(Arg319Gln) Unknown ACMG likely pathogenic (dominant) g.66986873G>A g.67219402G>A - - KDM2A_000011 ACMG PS2_MOD, PM, PP2, PP3 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat4 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents F - Afghanistan - - - - - 1 Johan den Dunnen
-?/. - c.1040G>A r.(?) p.(Arg347His) Unknown - likely benign g.66995590G>A - KDM2A(NM_012308.3):c.1040G>A (p.(Arg347His)) - KDM2A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1571T>G r.(?) p.(Phe524Cys) Unknown ACMG VUS g.67012667T>G g.67245196T>G - - KDM2A_000012 ACMG PS2_MOD, PM2, PP2 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat5 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. 14 c.1676dup r.(?) p.(Ile560AspfsTer71) Unknown ACMG pathogenic (dominant) g.67012772dup g.67245301dup - - KDM2A_000013 ACMG PVS1, PS2_MOD, PM2 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat14 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 14 c.1677del r.(?) p.(Ile560LeufsTer32) Unknown ACMG pathogenic (dominant) g.67012773del g.67245302del - - KDM2A_000014 ACMG PVS1, PS2_MOD, PM2 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat15 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. 14 c.1703G>A r.(?) p.(Arg568Gln) Unknown ACMG likely pathogenic (dominant) g.67012799G>A g.67245328G>A - - KDM2A_000015 ACMG PS2_MOD, PM2, PP2, PP3 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WGS NDD Pat6 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. 14 c.1772T>C r.(?) p.(Met591Thr) Unknown ACMG likely pathogenic (dominant) g.67012868T>C g.67245397T>C - - KDM2A_000016 ACMG PS2_MOD, PM2, PP2, PP3 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WGS NDD Pat7 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. 14 c.1796G>C r.(?) p.(Arg599Pro) Unknown ACMG likely pathogenic (dominant) g.67012892G>C g.67245421G>C - - KDM2A_000017 ACMG PS2_MOD, PM2, PP2, PP3 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WGS NDD Pat8 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. 17 c.2323G>A r.(?) p.(Glu775Lys) Unknown - VUS g.67017824G>A g.67250353G>A - - KDM2A_000018 - PubMed: Anderson 2026 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD PatS19 PubMed: Anderson 2026 adopted child F - - - - - - - 1 Johan den Dunnen
+?/. 17 c.2327A>G r.(?) p.(Lys776Arg) Unknown ACMG VUS g.67017828A>G g.67250357A>G - - KDM2A_000019 ACMG PS2_MOD, PM2, PP2 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WGS NDD Pat9 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. 17 c.2328G>T r.(?) p.(Lys776Asn) Unknown ACMG VUS g.67017829G>T g.67250358G>T - - KDM2A_000020 ACMG PS2_MOD, PM2, PP2 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat10 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. 17 c.2404dup r.(?) p.(Thr802AsnfsTer49) Unknown ACMG likely pathogenic (dominant) g.67017905dup g.67250434dup - - KDM2A_000021 ACMG PVS1, PM2 PubMed: Anderson 2026 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat16 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+?/. 17 c.2431C>A r.(?) p.(His811Asn) Unknown ACMG likely pathogenic (dominant) g.67017932C>A g.67250461C>A - - KDM2A_000022 ACMG PS2_MOD, PS3_MOD, PM2, PP2 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat11 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 17 c.2667del r.(?) p.(Asp889GlufsTer47) Unknown ACMG pathogenic (dominant) g.67018168del g.67250697del - - KDM2A_000023 ACMG PVS1, PS2_MOD, PM2 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat17 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 18 c.2809_2812dup r.(?) p.(Cys938Ter) Unknown ACMG pathogenic (dominant) g.67020205_67020208dup g.67252734_67252737dup - - KDM2A_000024 ACMG PVS1, PS2_MOD, PM2 PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WGS NDD Pat18 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.2827C>T r.(?) p.(Pro943Ser) Unknown - VUS g.67020223C>T g.67252752C>T KDM2A(NM_012308.3):c.2827C>T (p.P943S) - KDM2A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3077C>A r.(?) p.(Pro1026Gln) Maternal (confirmed) ACMG VUS g.67021068C>A g.67253597C>A - - KDM2A_000004 causative variant identified in ATP6V1B2 PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
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