Full data view for gene KDM3B

Information The variants shown are described using the NM_016604.3 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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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.-13859961_*7945896dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.13G>A r.(?) p.(Ala5Thr) Unknown - VUS g.137688497G>A g.138352808G>A KDM3B(NM_016604.3):c.13G>A (p.(Ala5Thr)) - KDM3B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.69_74del r.(?) p.(Ser27_Ala28del) Unknown - VUS g.137688553_137688558del - KDM3B(NM_016604.4):c.69_74del (p.(Ser27_Ala28del)) - FAM53C_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.133C>T r.(?) p.(Arg45Ter) Unknown - VUS g.137688617C>T g.138352928C>T - - KDM3B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.133C>T r.(?) p.(Arg45Ter) Unknown - pathogenic (dominant) g.137688617C>T g.138352928C>T - - KDM3B_000003 - PubMed: Diets 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat1 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.277G>T r.(?) p.(Glu93Ter) Maternal (confirmed) - pathogenic (dominant) g.137708447G>T g.138372758G>T - - KDM3B_000053 - PubMed: Diets 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Pat2 PubMed: Diets 2019 2-generation family, affected daughter/mother F - - - - - - - 2 Johan den Dunnen
+/. - c.277G>T r.(?) p.(Glu93Ter) Unknown - pathogenic (dominant) g.137708447G>T g.138372758G>T - - KDM3B_000053 - PubMed: Diets 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ID Pat3 PubMed: Diets 2019 mother F - - - - - - - 1 Johan den Dunnen
?/. - c.349T>C r.(?) p.(Trp117Arg) Unknown - VUS g.137708519T>C g.138372830T>C - - KDM3B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.349T>C r.(?) p.(Trp117Arg) Unknown - VUS g.137708519T>C g.138372830T>C - - KDM3B_000004 - PubMed: Diets 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat4 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.356C>A r.(?) p.(Ala119Asp) Unknown - likely pathogenic g.137708526C>A - - - KDM3B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.360+926G>C r.(=) p.(=) Unknown - likely benign g.137709456G>C - KDM3B(NM_016604.4):c.360+926G>C - KDM3B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.370C>A r.(?) p.(Pro124Thr) Unknown ACMG VUS g.137710791C>A - - - KDM3B_000019 borderline classification of pathogenicity VUS-LP - - - De novo - - - - - DNA SEQ-NG-I - - autism - - - - - - - - - - - 1 Marketa Wayhelova
-?/. - c.474+9C>T r.(=) p.(=) Unknown - likely benign g.137710904C>T - KDM3B(NM_016604.4):c.474+9C>T - KDM3B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.478G>C r.(?) p.(Gly160Arg) Unknown - VUS g.137713412G>C - KDM3B(NM_016604.4):c.478G>C (p.(Gly160Arg)) - KDM3B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.538G>A r.(?) p.(Ala180Thr) Unknown - VUS g.137713472G>A - KDM3B(NM_016604.4):c.538G>A (p.A180T) - KDM3B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.578G>A r.(?) p.(Arg193Gln) Unknown - likely benign g.137713512G>A - KDM3B(NM_016604.4):c.578G>A (p.(Arg193Gln)) - KDM3B_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647A>G r.(?) p.(Tyr216Cys) Unknown - likely benign g.137715339A>G - KDM3B(NM_016604.4):c.647A>G (p.(Tyr216Cys)) - KDM3B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.722C>T r.(?) p.(Ser241Leu) Unknown - likely benign g.137717221C>T - KDM3B(NM_016604.3):c.722C>T (p.(Ser241Leu)) - KDM3B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.781-1259_781-1258del r.(=) p.(=) Unknown - likely benign g.137720452_137720453del - KDM3B(NM_016604.4):c.781-1259_781-1258del - KDM3B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.824_826del r.(?) p.(Lys275del) Unknown - likely benign g.137721754_137721756del - KDM3B(NM_016604.4):c.824_826del (p.(Lys275del)) - KDM3B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.911G>T r.(?) p.(Gly304Val) Unknown - VUS g.137721841G>T - - - KDM3B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1007A>G r.(?) p.(Asp336Gly) Maternal (confirmed) - VUS g.137721937A>G g.138386248A>G - - KDM3B_000054 - PubMed: Diets 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Pat5 PubMed: Diets 2019 2-generation family, affected son/mother M - - - - - - - 2 Johan den Dunnen
?/. - c.1007A>G r.(?) p.(Asp336Gly) Unknown - VUS g.137721937A>G g.138386248A>G - - KDM3B_000054 - PubMed: Diets 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ID Pat6 PubMed: Diets 2019 mother F - - - - - - - 1 Johan den Dunnen
-?/. - c.1046A>G r.(?) p.(Gln349Arg) Unknown - likely benign g.137721976A>G - KDM3B(NM_016604.3):c.1046A>G (p.(Gln349Arg)) - KDM3B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1089C>T r.(?) p.(Asn363=) Both (homozygous) ACMG likely benign g.137722019C>T g.138386330C>T - - KDM3B_000011 possible causative variant identified in HARS PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
-?/. - c.1184C>A r.(?) p.(Ala395Asp) Unknown - likely benign g.137722114C>A - KDM3B(NM_016604.3):c.1184C>A (p.(Ala395Asp)) - KDM3B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1364C>T r.(?) p.(Ser455Leu) Unknown - VUS g.137722294C>T - KDM3B(NM_016604.4):c.1364C>T (p.S455L) - KDM3B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1590G>A r.(?) p.(Met530Ile) Unknown - VUS g.137726911G>A - KDM3B(NM_016604.4):c.1590G>A (p.M530I) - KDM3B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1661G>A r.(?) p.(Arg554Gln) Unknown - VUS g.137726982G>A - KDM3B(NM_016604.4):c.1661G>A (p.(Arg554Gln)) - KDM3B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1720G>A r.(?) p.(Val574Ile) Unknown - likely benign g.137727041G>A - KDM3B(NM_016604.3):c.1720G>A (p.(Val574Ile)) - KDM3B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1796_1797del r.(?) p.(Pro599Hisfs*20) Unknown - pathogenic g.137727117_137727118del - KDM3B(NM_016604.4):c.1796_1797delCC (p.P599Hfs*20) - KDM3B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1880A>G r.(?) p.(Lys627Arg) Paternal (confirmed) ACMG VUS g.137727201A>G - - - KDM3B_000020 ACMG PM2, PP3 PubMed: Gofin 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Pat1 PubMed: Gofin 2022 2-generation family, affected father/daughter F;M - United States - - - - - 2 Johan den Dunnen
?/. - c.1889G>A r.(?) p.(Arg630Gln) Unknown - VUS g.137727210G>A - KDM3B(NM_016604.3):c.1889G>A (p.(Arg630Gln)) - KDM3B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1891G>A r.(?) p.(Glu631Lys) Unknown - VUS g.137727212G>A - KDM3B(NM_016604.3):c.1891G>A (p.(Glu631Lys)) - KDM3B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2019C>G r.(?) p.(Ser673Arg) Unknown - likely benign g.137727340C>G - KDM3B(NM_016604.4):c.2019C>G (p.(Ser673Arg)) - KDM3B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2161G>A r.(?) p.(Gly721Arg) Unknown - likely benign g.137727482G>A - KDM3B(NM_016604.4):c.2161G>A (p.(Gly721Arg)) - KDM3B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2386A>T r.(?) p.(Arg796Trp) Unknown - VUS g.137727707A>T - - - KDM3B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2479C>T r.(?) p.(Gln827Ter) Unknown - pathogenic (dominant) g.137727800C>T g.138392111C>T - - KDM3B_000055 - PubMed: Diets 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ID Pat7 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier mother F - - - - - - - 1 Johan den Dunnen
+/. - c.2683G>T r.(?) p.(Gly895*) Unknown - pathogenic g.137728913G>T - KDM3B(NM_016604.4):c.2683G>T (p.G895*) - KDM3B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2816T>C r.(?) p.(Phe939Ser) Unknown - likely pathogenic g.137729046T>C - KDM3B(NM_016604.4):c.2816T>C (p.F939S) - KDM3B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2827C>T r.(?) p.(Arg943Trp) Unknown - likely pathogenic (dominant) g.137729057C>T g.138393368C>T - - KDM3B_000056 - PubMed: Diets 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat8 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - likely pathogenic (dominant) g.137729058G>A g.138393369G>A - - KDM3B_000057 - PubMed: Diets 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat9 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.2846G>A r.(?) p.(Arg949Gln) Unknown - likely benign g.137733881G>A - KDM3B(NM_016604.3):c.2846G>A (p.(Arg949Gln)) - KDM3B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3008T>C r.(?) p.(Met1003Thr) Unknown - VUS g.137734043T>C - KDM3B(NM_016604.4):c.3008T>C (p.(Met1003Thr)) - KDM3B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3083G>A r.(?) p.(Arg1028Gln) Unknown - likely pathogenic g.137735585G>A g.138399896G>A - - KDM3B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3083G>A r.(?) p.(Arg1028Gln) Unknown - likely pathogenic (dominant) g.137735585G>A g.138399896G>A - - KDM3B_000005 - PubMed: Diets 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat10 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.3095A>T r.(?) p.(Asp1032Val) Unknown - VUS g.137735597A>T g.138399908A>T - - KDM3B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3095A>T r.(?) p.(Asp1032Val) Unknown - likely pathogenic (dominant) g.137735597A>T g.138399908A>T - - KDM3B_000006 - PubMed: Diets 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat11 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.3199+745_3199+746insCATT r.(=) p.(=) Unknown - likely benign g.137736446_137736447insCATT - KDM3B(NM_016604.4):c.3199+745_3199+746insCATT - KDM3B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3237G>A r.(?) p.(Trp1079Ter) Unknown - likely pathogenic g.137750858G>A g.138415169G>A - - KDM3B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3317A>G r.(?) p.(Asn1106Ser) Unknown - VUS g.137753181A>G - KDM3B(NM_016604.4):c.3317A>G (p.N1106S) - KDM3B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3371G>T r.(?) p.(Cys1124Phe) Unknown - VUS g.137753235G>T - KDM3B(NM_016604.3):c.3371G>T (p.(Cys1124Phe)) - KDM3B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3415G>A r.(?) p.(Val1139Ile) Unknown - likely benign g.137753279G>A - KDM3B(NM_016604.4):c.3415G>A (p.(Val1139Ile)) - KDM3B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3527A>C r.(?) p.(Asp1176Ala) Unknown - VUS g.137754733A>C - KDM3B(NM_016604.4):c.3527A>C (p.D1176A) - KDM3B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3613C>G r.(?) p.(Leu1205Val) Unknown - likely benign g.137754819C>G - KDM3B(NM_016604.3):c.3613C>G (p.(Leu1205Val)) - KDM3B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3686C>T r.(?) p.(Ala1229Val) Unknown - VUS g.137754892C>T - KDM3B(NM_016604.4):c.3686C>T (p.A1229V) - KDM3B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4051G>C r.(?) p.(Asp1351His) Unknown - VUS g.137759842G>C - KDM3B(NM_016604.4):c.4051G>C (p.(Asp1351His)) - KDM3B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4387T>C r.(?) p.(Trp1463Arg) Unknown - VUS g.137761247T>C - - - KDM3B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4526T>C r.(?) p.(Leu1509Pro) Unknown - VUS g.137762901T>C g.138427212T>C - - KDM3B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4526T>C r.(?) p.(Leu1509Pro) Unknown - likely pathogenic (dominant) g.137762901T>C g.138427212T>C - - KDM3B_000008 - PubMed: Diets 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat12 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.4549C>T r.(?) p.(Arg1517Ter) Unknown - pathogenic (dominant) g.137762924C>T g.138427235C>T - - KDM3B_000058 - PubMed: Diets 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat13 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.4631A>G r.(?) p.(Tyr1544Cys) Unknown - likely pathogenic (dominant) g.137763006A>G g.138427317A>G - - KDM3B_000059 - PubMed: Diets 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat14 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.4691C>A r.(?) p.(Ser1564Tyr) Unknown - VUS g.137763713C>A - - - KDM3B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4733G>T r.(?) p.(Gly1578Val) Unknown - VUS g.137763755G>T g.138428066G>T KDM3B(NM_016604.3):c.4733G>T (p.(Gly1578Val)) - KDM3B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4981C>T r.(?) p.(Arg1661*) Unknown - likely pathogenic g.137766025C>T - - - KDM3B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5191G>A r.(?) p.(Glu1731Lys) Unknown - VUS g.137767234G>A g.138431545G>A - - KDM3B_000023 - PubMed: Schonauer 2023, Journal: Schonauer 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.5191G>A r.(?) p.(Glu1731Lys) Paternal (confirmed) - likely pathogenic (dominant) g.137767234G>A g.138431545G>A - - KDM3B_000023 - PubMed: Diets 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Pat15 PubMed: Diets 2019 2-generation family, affected son/father M - - - - - - - 2 Johan den Dunnen
+?/. - c.5191G>A r.(?) p.(Glu1731Lys) Unknown - likely pathogenic (dominant) g.137767234G>A g.138431545G>A - - KDM3B_000023 - PubMed: Diets 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ID Pat16 PubMed: Diets 2019 father M - - - - - - - 1 Johan den Dunnen
+?/. - c.5201T>G r.(?) p.(Leu1734Arg) Unknown - likely pathogenic (dominant) g.137767244T>G g.138431555T>G - - KDM3B_000060 - PubMed: Diets 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat17 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.*5357del r.(?) p.(=) Unknown - VUS g.137776746del - REEP2(NM_001271803.2):c.74del (p.(Lys25ArgfsTer3)) - KDM3B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5387A>G r.(=) p.(=) Unknown - VUS g.137776776A>G g.138441087A>G - - KDM3B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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