Full data view for gene KMT2B

Information The variants shown are described using the NM_014727.1 transcript reference sequence.

244 entries on 3 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.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_36191100)_(36376860_?)del - - - KMT2B_000071 - PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER326751 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_35608666)_(36233508_?)del - - - KMT2B_000071 - PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER285201 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_35608666)_(36233508_?)del - - - KMT2B_000071 - PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER326759 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_35017972)_(36307788_?)del - - - KMT2B_000071 also affects SCN1B gene PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER326752 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_34983674)_(36361263_?)del - - - KMT2B_000071 also affects SCN1B gene; individual carries other CNVs 8:131223855-134546311, 18:63038586-64746016 PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER257844 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_35096860)_(36494247_?)del - - - KMT2B_000071 also affects SCN1B gene PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER339538 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_34916872)_(36661836_?)del - - - KMT2B_000071 also affects SCN1B gene PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER285198 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_35967904)_(37928373_?)del - - - KMT2B_000071 - PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER295701 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_35414997)_(37579142_?)del - - - KMT2B_000071 also affects SCN1B gene PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER280902 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_35414997)_(3757914_?)del - - - KMT2B_000071 also affects SCN1B gene PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER285035 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_34697740)_(37084508_?)del - - - KMT2B_000071 also affects SCN1B gene PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER326748 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_34317255)_(36717258_?)del - - - KMT2B_000071 also affects SCN1B gene PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER285200 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_35043615)_(37903209_?)del - - - KMT2B_000071 also affects SCN1B gene PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER285199 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_35197252)_(38140100_?)del - - - KMT2B_000071 also affects SCN1B gene PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER326749 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_35197252)_(38140100_?)del - - - KMT2B_000071 also affects SCN1B gene; individual carries other CNVs X:6452799-6755223, X:152012290-152018952 PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER295183 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_31725360)_(36229548_?)del - - - KMT2B_000071 also affects SCN1B gene PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER326750 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_31563657)_(37241664_?)del - - - KMT2B_000071 also affects SCN1B gene PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER317705 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-16_*320{0} r.0 p.0 Unknown - likely pathogenic g.(?_30682288)_(36367331_?)del - - - KMT2B_000071 also affects SCN1B gene PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER3776 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
-?/. - c.130C>T r.(?) p.(Arg44Trp) Unknown - likely benign g.36209050C>T - KMT2B(NM_014727.1):c.130C>T (p.(Arg44Trp)) - ZBTB32_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.180G>C r.(?) p.(Glu60Asp) Unknown - likely benign g.36209100G>C - KMT2B(NM_014727.1):c.180G>C (p.(Glu60Asp)) - ZBTB32_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.221G>A r.(?) p.(Arg74His) Unknown - likely benign g.36209141G>A g.35718239G>A KMT2B(NM_014727.2):c.221G>A (p.R74H), KMT2B(NM_014727.3):c.221G>A (p.R74H) - KMT2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.221G>A r.(?) p.(Arg74His) Unknown - VUS g.36209141G>A - KMT2B(NM_014727.2):c.221G>A (p.R74H), KMT2B(NM_014727.3):c.221G>A (p.R74H) - KMT2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.306C>A r.(?) p.(Gly102=) Unknown - likely benign g.36209226C>A g.35718324C>A KMT2B(NM_014727.2):c.306C>A (p.G102=) - KMT2B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.398C>T r.(?) p.(Ala133Val) Unknown - likely benign g.36210405C>T g.35719503C>T KMT2B(NM_014727.2):c.398C>T (p.A133V) - ZBTB32_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.516C>A r.(?) p.(Thr172=) Unknown - likely benign g.36210765C>A g.35719863C>A KMT2B(NM_014727.2):c.516C>A (p.T172=) - ZBTB32_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.535C>T r.(?) p.(Arg179Trp) Paternal (confirmed) ACMG VUS g.36210784C>T g.35719882C>T - - KMT2B_000072 no possible causative variants identified in other genes PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
?/. - c.586C>T r.(?) p.(Leu196Phe) Unknown - VUS g.36210835C>T - KMT2B(NM_014727.2):c.586C>T (p.L196F) - ZBTB32_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.625C>T r.(?) p.(Arg209Trp) Unknown - likely benign g.36210874C>T - KMT2B(NM_014727.3):c.625C>T (p.(Arg209Trp)) - ZBTB32_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.626G>A r.(?) p.(Arg209Gln) Unknown - likely benign g.36210875G>A - KMT2B(NM_014727.2):c.626G>A (p.R209Q) - ZBTB32_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.640T>C r.(?) p.(Ser214Pro) Paternal (confirmed) ACMG VUS g.36210889T>C g.35719987T>C - - KMT2B_000073 causative variant identified in CHD8 PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
-?/. - c.649C>T r.(?) p.(Arg217Trp) Unknown - likely benign g.36210898C>T - KMT2B(NM_014727.3):c.649C>T (p.R217W) - ZBTB32_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.649del r.(649del) p.(Arg217Glyfs*22) Unknown ACMG pathogenic (dominant) g.36210898del g.35719996del - - KMT2B_000147 ACMG: PVS1, PS2_SUP, PM2_SUP - - - De novo - - - - - DNA SEQ-NG-H Blood - ID 313001 - - F no Germany - - - - - 1 Andreas Laner
+?/. - c.651_654del r.(?) p.(Arg218Leufs*20) Unknown - likely pathogenic g.36210900_36210903del - - - ZBTB32_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.745A>G r.(?) p.(Lys249Glu) Unknown - VUS g.36210994A>G - KMT2B(NM_014727.3):c.745A>G (p.K249E) - ZBTB32_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.759A>G r.(?) p.(Pro253=) Unknown - likely benign g.36211008A>G g.35720106A>G KMT2B(NM_014727.2):c.759A>G (p.P253=) - ZBTB32_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.883C>T r.(?) p.(Arg295Cys) Unknown - VUS g.36211132C>T - KMT2B(NM_014727.3):c.883C>T (p.R295C) - ZBTB32_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885C>T r.(?) p.(Arg295=) Unknown - likely benign g.36211134C>T g.35720232C>T KMT2B(NM_014727.2):c.885C>T (p.R295=) - ZBTB32_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.889C>T r.(?) p.(Arg297Ter) Unknown - pathogenic g.36211138C>T g.35720236C>T KMT2B(NM_014727.2):c.889C>T (p.R297*) - ZBTB32_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.971A>G r.(?) p.(Glu324Gly) Unknown - VUS g.36211220A>G - KMT2B(NM_014727.3):c.971A>G (p.(Glu324Gly)) - ZBTB32_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.988_993del r.(?) p.(Gly330_Gln331del) Unknown - VUS g.36211237_36211242del - KMT2B(NM_014727.3):c.988_993delGGTCAA (p.G330_Q331del) - ZBTB32_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1028G>A r.(?) p.(Arg343Lys) Unknown - likely benign g.36211277G>A - KMT2B(NM_014727.2):c.1028G>A (p.R343K) - ZBTB32_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1090G>A r.(?) p.(Glu364Lys) Unknown - likely benign g.36211339G>A - KMT2B(NM_014727.1):c.1090G>A (p.(Glu364Lys)), KMT2B(NM_014727.2):c.1090G>A (p.E364K) - ZBTB32_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1090G>A r.(?) p.(Glu364Lys) Unknown - likely benign g.36211339G>A - KMT2B(NM_014727.1):c.1090G>A (p.(Glu364Lys)), KMT2B(NM_014727.2):c.1090G>A (p.E364K) - ZBTB32_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1097A>G r.(?) p.(Glu366Gly) Unknown - likely benign g.36211346A>G - KMT2B(NM_014727.1):c.1097A>G (p.(Glu366Gly)) - ZBTB32_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1117_1119del r.(?) p.(Glu373del) Unknown - likely benign g.36211366_36211368del - KMT2B(NM_014727.1):c.1117_1119delGAA (p.(Glu373del)) - ZBTB32_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1126_1128del r.(?) p.(Lys376del) Unknown - likely benign g.36211375_36211377del - KMT2B(NM_014727.2):c.1126_1128delAAG (p.K376del) - ZBTB32_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1144G>A r.(?) p.(Glu382Lys) Paternal (confirmed) ACMG VUS g.36211393G>A g.35720491G>A - - KMT2B_000074 possible causative variant identified in CHD4 PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
?/. - c.1160C>T r.(?) p.(Ala387Val) Parent #1 - VUS g.36211409C>T - - - KMT2B_000098 - PubMed: Martin 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Pat1 PubMed: Martin 2017 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
-?/. - c.1169T>C r.(?) p.(Met390Thr) Unknown - likely benign g.36211418T>C g.35720516T>C KMT2B(NM_014727.1):c.1169T>C (p.(Met390Thr)) - ZBTB32_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1209_1211del r.(?) p.(Pro405del) Unknown - VUS g.36211458_36211460del - KMT2B(NM_014727.3):c.1209_1211delACC (p.P405del) - ZBTB32_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1212G>A r.(?) p.(Pro404=) Unknown - likely benign g.36211461G>A g.35720559G>A KMT2B(NM_014727.2):c.1212G>A (p.P404=) - ZBTB32_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1272_1274del r.(?) p.(Pro427del) Unknown - VUS g.36211521_36211523del g.35720619_35720621del KMT2B(NM_014727.2):c.1272_1274delTCC (p.P427del) - ZBTB32_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1398C>T r.(?) p.(Ser466=) Unknown - likely benign g.36211647C>T - KMT2B(NM_014727.2):c.1398C>T (p.S466=) - ZBTB32_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1471G>A r.(?) p.(Gly491Ser) Unknown - benign g.36211720G>A g.35720818G>A KMT2B(NM_014727.2):c.1471G>A (p.G491S) - ZBTB32_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1504G>A r.(?) p.(Ala502Thr) Unknown - likely benign g.36211753G>A g.35720851G>A KMT2B(NM_014727.2):c.1504G>A (p.A502T) - ZBTB32_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1566G>C r.(?) p.(Lys522Asn) Unknown - VUS g.36211815G>C g.35720913G>C KMT2B(NM_014727.3):c.1566G>C (p.K522N) - KMT2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1573C>T r.(?) p.(Arg525Trp) Unknown - VUS g.36211822C>T - KMT2B(NM_014727.3):c.1573C>T (p.R525W) - ZBTB32_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1756G>A r.(?) p.(Ala586Thr) Unknown - likely benign g.36212005G>A - KMT2B(NM_014727.2):c.1756G>A (p.A586T) - ZBTB32_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1790C>T r.(?) p.(Pro597Leu) Paternal (confirmed) ACMG VUS g.36212039C>T g.35721137C>T - - KMT2B_000075 possible causative variant identified in NEM2 PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+?/. - c.1808dup r.(?) p.(Leu604Profs*72) Unknown - likely pathogenic (dominant) g.36212057dup g.35721155dup - - KMT2B_000070 - PubMed: Faundes 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Faundes 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1810dup r.(?) p.(Leu604Profs*72) Unknown ACMG pathogenic g.36212059dup g.35721157dup 1808dupC - KMT2B_000076 no possible causative variants identified in other genes PubMed: Faundes 2018 - - De novo - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
-?/. - c.1858C>A r.(?) p.(Pro620Thr) Unknown - likely benign g.36212107C>A - KMT2B(NM_014727.1):c.1858C>A (p.(Pro620Thr)) - ZBTB32_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1858C>G r.(?) p.(Pro620Ala) Unknown - VUS g.36212107C>G - KMT2B(NM_014727.1):c.1858C>G (p.(Pro620Ala)) - ZBTB32_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1909C>T r.(?) p.(Pro637Ser) Unknown - likely benign g.36212158C>T - KMT2B(NM_014727.3):c.1909C>T (p.(Pro637Ser)) - ZBTB32_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1952A>G r.(?) p.(Gln651Arg) Unknown - likely benign g.36212201A>G - KMT2B(NM_014727.1):c.1952A>G (p.(Gln651Arg)) - ZBTB32_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2050G>A r.(?) p.(Ala684Thr) Unknown - VUS g.36212299G>A - KMT2B(NM_014727.3):c.2050G>A (p.A684T) - ZBTB32_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2053G>A r.(?) p.(Asp685Asn) Unknown - likely benign g.36212302G>A - KMT2B(NM_014727.1):c.2053G>A (p.(Asp685Asn)) - ZBTB32_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.2061_2062del r.(?) p.(Pro688Serfs*2) Unknown ACMG likely pathogenic g.36212310_36212311del g.35721408_35721409del - - KMT2B_000123 - - ClinVar-3367163 - Germline yes - - - - DNA SEQ-NG-I peripheral blood WES DYT - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
-?/. - c.2078C>T r.(?) p.(Pro693Leu) Unknown - likely benign g.36212327C>T - KMT2B(NM_014727.1):c.2078C>T (p.(Pro693Leu)) - ZBTB32_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2084C>T r.(?) p.(Ala695Val) Unknown - VUS g.36212333C>T - KMT2B(NM_014727.3):c.2084C>T (p.A695V) - ZBTB32_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2183G>A r.(?) p.(Ser728Asn) Unknown - likely benign g.36212432G>A g.35721530G>A KMT2B(NM_014727.3):c.2183G>A (p.S728N) - KMT2B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2265A>G r.(?) p.(Pro755=) Unknown - likely benign g.36212514A>G - KMT2B(NM_014727.2):c.2265A>G (p.P755=) - ZBTB32_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2268_2279dup r.(?) p.(Gln759_Pro762dup) Unknown - likely benign g.36212517_36212528dup g.35721615_35721626dup KMT2B(NM_014727.2):c.2268_2279dupACAGCCACAGCT (p.Q759_P762dup), KMT2B(NM_014727.3):c.2268_2279dupACAGCCACAGCT (p.Q759_P762dup) - ZBTB32_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2268_2279dup r.(?) p.(Gln759_Pro762dup) Unknown - likely benign g.36212517_36212528dup - KMT2B(NM_014727.2):c.2268_2279dupACAGCCACAGCT (p.Q759_P762dup), KMT2B(NM_014727.3):c.2268_2279dupACAGCCACAGCT (p.Q759_P762dup) - ZBTB32_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2332G>T r.(?) p.(Ala778Ser) Unknown - VUS g.36212581G>T - KMT2B(NM_014727.3):c.2332G>T (p.(Ala778Ser)) - ZBTB32_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2338G>C r.(?) p.(Val780Leu) Unknown - likely benign g.36212587G>C - KMT2B(NM_014727.1):c.2338G>C (p.(Val780Leu)) - ZBTB32_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2385C>T r.(?) p.(Leu795=) Unknown - likely benign g.36212634C>T - KMT2B(NM_014727.2):c.2385C>T (p.L795=) - ZBTB32_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2439G>C r.(?) p.(Lys813Asn) Unknown - likely benign g.36212688G>C - KMT2B(NM_014727.1):c.2439G>C (p.(Lys813Asn)) - ZBTB32_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2447C>T r.(?) p.(Ala816Val) Unknown - VUS g.36212696C>T - KMT2B(NM_014727.3):c.2447C>T (p.(Ala816Val)) - ZBTB32_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2462G>T r.(?) p.(Ser821Ile) Unknown - likely benign g.36213265G>T - KMT2B(NM_014727.1):c.2462G>T (p.(Ser821Ile)) - KMT2B_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2475G>T r.(?) p.(Gln825His) Unknown - likely benign g.36213278G>T - KMT2B(NM_014727.1):c.2475G>T (p.(Gln825His)) - KMT2B_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2489C>A r.(?) p.(Ala830Asp) Unknown - likely benign g.36213292C>A g.35722390C>A KMT2B(NM_014727.2):c.2489C>A (p.A830D) - KMT2B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2491G>A r.(?) p.(Gly831Arg) Unknown - VUS g.36213294G>A - KMT2B(NM_014727.3):c.2491G>A (p.G831R) - KMT2B_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2519G>A r.(?) p.(Gly840Asp) Unknown - likely benign g.36213322G>A g.35722420G>A KMT2B(NM_014727.1):c.2519G>A (p.(Gly840Asp)) - KMT2B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2565G>A r.(?) p.(Arg855=) Unknown - likely benign g.36213368G>A g.35722466G>A KMT2B(NM_014727.2):c.2565G>A (p.R855=) - KMT2B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2681G>T r.(?) p.(Ser894Ile) Unknown - VUS g.36213579G>T - KMT2B(NM_014727.1):c.2681G>T (p.(Ser894Ile)) - KMT2B_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2716A>C r.(?) p.(Thr906Pro) Unknown - VUS g.36213614A>C g.35722712A>C KMT2B(NM_014727.2):c.2716A>C (p.T906P) - KMT2B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2735C>T r.(?) p.(Ala912Val) Unknown - likely benign g.36213909C>T - KMT2B(NM_014727.3):c.2735C>T (p.(Ala912Val)) - KMT2B_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2756C>T r.(?) p.(Pro919Leu) Unknown - VUS g.36213930C>T g.35723028C>T KMT2B(NM_014727.2):c.2756C>T (p.P919L), KMT2B(NM_014727.3):c.2756C>T (p.(Pro919Leu)) - KMT2B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2756C>T r.(?) p.(Pro919Leu) Unknown - likely benign g.36213930C>T - KMT2B(NM_014727.2):c.2756C>T (p.P919L), KMT2B(NM_014727.3):c.2756C>T (p.(Pro919Leu)) - KMT2B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2887A>G r.(?) p.(Met963Val) Unknown - VUS g.36214061A>G - KMT2B(NM_014727.1):c.2887A>G (p.(Met963Val)) - KMT2B_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2942G>A r.(?) p.(Cys981Tyr) Unknown - VUS g.36214116G>A - - - KMT2B_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3059-3G>A r.spl? p.? Unknown - benign g.36214630G>A g.35723728G>A KMT2B(NM_014727.2):c.3059-4G>A - KMT2B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3065C>T r.(?) p.(Thr1022Met) Unknown - VUS g.36214639C>T - KMT2B(NM_014727.3):c.3065C>T (p.T1022M) - KMT2B_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3077C>T r.(?) p.(Thr1026Met) Unknown - VUS g.36214651C>T g.35723750C>T KMT2B(NM_014727.2):c.3077C>T (p.T1026M) - KMT2B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3101A>C r.(?) p.(Glu1034Ala) Unknown - likely benign g.36214675A>C - KMT2B(NM_014727.1):c.3101A>C (p.(Glu1034Ala)) - KMT2B_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3163C>T r.(?) p.(Arg1055Trp) Unknown - VUS g.36214737C>T - KMT2B(NM_014727.1):c.3163C>T (p.(Arg1055Trp)) - KMT2B_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3206C>G r.(?) p.(Ser1069Cys) Unknown - VUS g.36214780C>G g.35723879C>G KMT2B(NM_014727.2):c.3206C>G (p.S1069C) - KMT2B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3276G>A r.(?) p.(Ser1092=) Unknown - likely benign g.36214850G>A - KMT2B(NM_014727.2):c.3276G>A (p.S1092=) - KMT2B_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3296G>A r.(?) p.(Gly1099Asp) Unknown - VUS g.36214870G>A - KMT2B(NM_014727.2):c.3296G>A (p.G1099D) - KMT2B_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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