Full data view for gene MLL3

NOTE: gene name changed from MLL3 to KMT2C
Information The variants shown are described using the NM_170606.2 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_150017071)_(152988408_?)del - - - MLL3_000110 - PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER296318 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_150021034)_(153022042_?)del - - - MLL3_000110 - PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER250027 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_149415472)_(153056008_?)del - - - MLL3_000110 - PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER328097 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_151065000)_(155193924_?)del - - - MLL3_000110 also affects DPP6 gene PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER267620 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_151810464)_(155965323_?)del - - - MLL3_000110 also affects genes DPP6, SHH PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER323045 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_151927331)_(156509592_?)del - - - MLL3_000110 also affects genes DPP6, LMBR1, SHH PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER2517 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_151716918)_(156484739_?)del - - - MLL3_000110 also affects genes DPP6, LMBR1, SHH PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER321961 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_148255537)_(153360454_?)del - - - MLL3_000110 also affects EZH2 gene PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER1671 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_148705341)_(154211006_?)del - - - MLL3_000110 also affects DPP6 gene PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER323717 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_149576889)_(156661877_?)del - - - MLL3_000110 also affects genes DPP6, LMBR1, SHH PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER280475 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_151664495)_(159075079_?)del - - - MLL3_000110 also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH; individual carries other CNVs 19:113418-920937 PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER322282 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_151672046)_(159138663_?)del - - - MLL3_000110 also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH; individual carries other CNVs 11:117797289-135006516 PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER277910 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_151166989)_(159128529_?)del - - - MLL3_000110 also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER260056 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Maternal (confirmed) - likely pathogenic g.(?_150911408)_(159128529_?)del - - - MLL3_000110 also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH; individual carries other CNVs 5:22179-57670, 8:118816775-118894264 PubMed: Faundes 2018 - - Germline - - - - - DNA arrayCGH - - ? DECIPHER297575 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_150911249)_(159128555_?)del - - - MLL3_000110 also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER303841 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_150823994)_(159118707_?)del - - - MLL3_000110 also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH; individual carries other CNVs 9:28777159-28866561, 14:86914050-86956536, X:153740175-154929420 PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER255286 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_150655745)_(159128555_?)del - - - MLL3_000110 also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH; individual carries other CNVs 11:115029819-134868420 PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER333386 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_150217955)_(158923949_?)del - - - MLL3_000110 also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER286232 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_150019921)_(159024633_?)del - - - MLL3_000110 also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER2345 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_150019886)_(159024633_?)del - - - MLL3_000110 also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER250256 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_149545572)_(159128529_?)del - - - MLL3_000110 also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER322646 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_149330299)_(159124478_?)del - - - MLL3_000110 also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH; individual carries other CNVs 1:174468247-174553410, 5:175714974-180696832, 7:122366615-122992258, 12:51235760-51398791 PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER289790 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_142745116)_(152922260_?)del - - - MLL3_000110 also affects genes CLCN1, CNTNAP2, EZH2 PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER252404 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_148877199)_(159128663_?)del - - - MLL3_000110 also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER250157 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_148779597)_(159128529_?)del - - - MLL3_000110 also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER265558 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_147889815)_(159118444_?)del - - - MLL3_000110 also affects genes CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER251692 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_141983521)_(154239067_?)del - - - MLL3_000110 also affects genes CLCN1, CNTNAP2, DPP6, EZH2 PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER251739 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_141983521)_(154239067_?)del - - - MLL3_000110 also affects genes CLCN1, CNTNAP2, DPP6, EZH2 PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER251763 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_146328761)_(159024633_?)del - - - MLL3_000110 also affects genes CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH; individual carries other CNVs 17:43739782-43740328 PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER2223 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_144738996)_(159124141_?)del - - - MLL3_000110 also affects genes CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER332394 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_144618049)_(159119486_?)del - - - MLL3_000110 also affects genes CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER308731 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_142561592)_(159088636_?)del - - - MLL3_000110 also affects genes CLCN1, CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH; individual carries other CNVs 8:221611-19688007 PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER271204 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_135513102)_(152676946_?)del - - - MLL3_000110 also affects genes BRAF, CLCN1, CNTNAP2, EZH2 PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER259664 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_141597965)_(159128529_?)del - - - MLL3_000110 also affects genes CLCN1, CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER256153 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_141331213)_(159128663_?)del - - - MLL3_000110 also affects genes CLCN1, CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER798 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_137597659)_(155397736_?)del - - - MLL3_000110 also affects genes BRAF, CLCN1, CNTNAP2, DPP6, EZH2 PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER254958 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_136274255)_(159088636_?)del - - - MLL3_000110 also affects genes BRAF, CLCN1, CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER258344 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_136175892)_(159128555_?)del - - - MLL3_000110 also affects genes BRAF, CLCN1, CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER307976 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_*1905{0} r.0 p.0 Unknown - likely pathogenic g.(?_131660713)_(159128663_?)del - - - MLL3_000110 also affects genes BRAF, CLCN1, CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER920 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
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