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.

480 entries on 5 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.(?_251-4891)_*1905{0} r.0? p.0? Unknown - likely pathogenic g.(?_151810464)_(152032715_?)del - - - MLL3_000111 - PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER263913 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - c.-217_(161+10895_?){0} r.0? p.0? Unknown - likely pathogenic g.(?_152121816)_(159128555_?)del - - - MLL3_000121 also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH; individual carries other CNVs 16:29678526-29683762, 16:62617503-62721696 PubMed: Faundes 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER289059 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. - 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
+/. - c.-219_(2652+310_?){0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_151935482)_(154215665_?)del g.(?_152238397)_(154518580_?)del hg19 151935482_154215665del - MLL3_000273 2,300kb deletion KMT2C ex1-15, XRCC2, ACTR3B, FABP5P3 and DPP6 ex1-3; ACMG PVS1, PM2_sup, PS2_sup PubMed: Rots 2024, Journal: Rots 2024 - - De novo yes - - - - DNA arrayCGH - - NDD Pat56 PubMed: Rots 2024, Journal: Rots 2024 - M - - - - - - - 1 Johan den Dunnen
?/. - c.110G>C r.(?) p.(Arg37Pro) Unknown - VUS g.152132762C>G - KMT2C(NM_170606.3):c.110G>C (p.R37P) - MLL3_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161+18989G>A r.(=) p.(=) Unknown - likely benign g.152113722C>T - KMT2C(NM_170606.3):c.161+18989G>A - MLL3_000394 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161+19056del r.(=) p.(=) Unknown - likely benign g.152113655del - KMT2C(NM_170606.3):c.161+19056del - MLL3_000393 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161+19922T>G r.(=) p.(=) Unknown - likely benign g.152112789A>C - KMT2C(NM_170606.3):c.161+19922T>G - MLL3_000392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161+21416T>A r.(=) p.(=) Unknown - likely benign g.152111295A>T - KMT2C(NM_170606.3):c.161+21416T>A - MLL3_000391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161+22074A>G r.(=) p.(=) Unknown - likely benign g.152110637T>C - KMT2C(NM_170606.3):c.161+22074A>G - MLL3_000390 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161+29636_161+29637del r.(=) p.(=) Unknown - likely benign g.152103075_152103076del - KMT2C(NM_170606.3):c.161+29636_161+29637del - MLL3_000389 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161+31968C>G r.(=) p.(=) Unknown - likely benign g.152100743G>C - KMT2C(NM_170606.3):c.161+31968C>G - MLL3_000388 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161+33467T>C r.(=) p.(=) Unknown - likely benign g.152099244A>G - KMT2C(NM_170606.3):c.161+33467T>C - MLL3_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161+33508del r.(=) p.(=) Unknown - likely benign g.152099203del - KMT2C(NM_170606.3):c.161+33508del - MLL3_000386 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161+33559C>T r.(=) p.(=) Unknown - likely benign g.152099152G>A - KMT2C(NM_170606.3):c.161+33559C>T - MLL3_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161+33562G>A r.(=) p.(=) Unknown - likely benign g.152099149C>T - KMT2C(NM_170606.3):c.161+33562G>A - MLL3_000384 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161+33854G>A r.(=) p.(=) Unknown - likely benign g.152098857C>T - KMT2C(NM_170606.3):c.161+33854G>A - MLL3_000383 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162-28896G>A r.(=) p.(=) Unknown - likely benign g.152084656C>T - KMT2C(NM_170606.3):c.162-28896G>A - MLL3_000382 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162-25886G>A r.(=) p.(=) Unknown - likely benign g.152081646C>T - KMT2C(NM_170606.3):c.162-25886G>A - MLL3_000381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162-24042T>C r.(=) p.(=) Unknown - likely benign g.152079802A>G - KMT2C(NM_170606.3):c.162-24042T>C - MLL3_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162-24034C>A r.(=) p.(=) Unknown - likely benign g.152079794G>T - KMT2C(NM_170606.3):c.162-24034C>A - MLL3_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162-22698G>A r.(=) p.(=) Unknown - likely benign g.152078458C>T - KMT2C(NM_170606.3):c.162-22698G>A - MLL3_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162-22686C>T r.(=) p.(=) Unknown - likely benign g.152078446G>A - KMT2C(NM_170606.3):c.162-22686C>T - MLL3_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.162-22627G>C r.(=) p.(=) Unknown - VUS g.152078387C>G - KMT2C(NM_170606.3):c.162-22627G>C - MLL3_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.(?_162-15288)_(9517+769_?)del r.? p.? Unknown - likely pathogenic (dominant) g.(?_151865502)_(152071048_?)del g.(?_152168417)_(152373963_?)del hg19 151865502_152071048del - MLL3_000247 205kb deletion KMT2C ex2-41; ACMG PVS1, PM2_sup PubMed: Rots 2024, Journal: Rots 2024 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD Pat28 PubMed: Rots 2024, Journal: Rots 2024 - F - - - - - - - 1 Johan den Dunnen
+/. 1i_43i c.(?_162-6403)_(11460+282_?)del r.? p.? Unknown - pathogenic (dominant) g.(?_151859847)_(151859850_?)del g.(?_152161835)_(152365078_?)del chr7:(151858920–152062163)x1 - MLL3_000228 203kb deletion KMT2C exon 2-43 PubMed: Koemans 2017, PubMed: Rots 2024, Journal: Rots 2024 - - De novo - - - - - DNA arrayCGH - WES KLEFS Pat5;Pat6 PubMed: Koemans 2017, PubMed: Rots 2024, Journal: Rots 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.162-229T>C r.(=) p.(=) Unknown - likely benign g.152055989A>G - KMT2C(NM_170606.3):c.162-229T>C - MLL3_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162-7del r.(=) p.(=) Unknown - likely benign g.152055779del - KMT2C(NM_170606.3):c.162-7del - MLL3_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.162-5dup r.spl? p.? Unknown - benign g.152055765dup - KMT2C(NM_170606.3):c.162-5dupT - MLL3_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.(?_250+543)_(8947_?)dup r.? p.? Unknown - likely pathogenic (dominant) g.(?_151873591)_(152055129_?)dup g.(?_152176506)_(152358044_?)dup hg19 151873591_152055129dup - MLL3_000250 duplication KMT2C ex3-38 (frameshift if in tandem) PubMed: Rots 2024, Journal: Rots 2024 - - De novo yes - - - - DNA arrayCGH - - NDD Pat65 PubMed: Rots 2024, Journal: Rots 2024 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_250+7585)_(849+14881_?)del r.? p.? Unknown - likely pathogenic (dominant) g.(?_151992170)_(152048087_?)del g.(?_152295085)_(152351002_?)del hg19 151992170_152048087del - MLL3_000280 56kb deletion KMT2C ex3-6; ACMG PVS1, PM2_sup PubMed: Rots 2024, Journal: Rots 2024 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD Pat70 PubMed: Rots 2024, Journal: Rots 2024 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_251-3040)_(9389_?)del r.? p.? Unknown - likely pathogenic g.(?_151868413)_(152030864_?)del g.(?_152171328)_(152333779_?)del hg19 151868413_152030864del - MLL3_000249 162kb deletion KMT2C ex3-39; ACMG PVS1, PM2_sup PubMed: Rots 2024, Journal: Rots 2024 - - Germline - - - - - DNA arrayCGH - - NDD Pat18 PubMed: Rots 2024, Journal: Rots 2024 - M - - - - - - - 1 Johan den Dunnen
+/. - c.307C>T r.(?) p.(Gln103Ter) Unknown - pathogenic (dominant) g.152027768G>A g.152330683G>A - - MLL3_000283 ACMG PVS1,PM2_sup,PS2_sup PubMed: Rots 2024, Journal: Rots 2024 - - De novo yes - - - - DNA SEQ-NG - - NDD Pat40 PubMed: Rots 2024, Journal: Rots 2024 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.319A>C r.(?) p.(Thr107Pro) Unknown - likely benign g.152027756T>G - KMT2C(NM_170606.2):c.319A>C (p.(Thr107Pro)) - MLL3_000335 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.454del r.(?) p.(Gln152AsnfsTer4) Unknown - pathogenic (dominant) g.152012359del g.152315274del 454delC - MLL3_000282 ACMG PVS1, PM2_sup, PS2_sup PubMed: Rots 2024, Journal: Rots 2024 - - De novo yes - - - - DNA SEQ-NG - - NDD Pat44 PubMed: Rots 2024, Journal: Rots 2024 - F - - - - - - - 1 Johan den Dunnen
+/. - c.466_478del r.(?) p.(Thr156SerfsTer46) Unknown - pathogenic (dominant) g.152012337_152012349del g.152315252_152315264del - - MLL3_000281 ACMG PVS1, PM2_sup, PS2_sup PubMed: Rots 2024, Journal: Rots 2024 - - De novo yes - - - - DNA SEQ-NG - - NDD Pat26 PubMed: Rots 2024, Journal: Rots 2024 - M - - - - - - - 1 Johan den Dunnen
?/. - c.558C>G r.(?) p.(Asn186Lys) Unknown - VUS g.152012255G>C - KMT2C(NM_170606.3):c.558C>G (p.N186K) - MLL3_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.562G>A r.(?) p.(Ala188Thr) Unknown - likely benign g.152012251C>T - KMT2C(NM_170606.2):c.562G>A (p.(Ala188Thr)) - MLL3_000334 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.583C>T r.(?) p.(Gln195Ter) Unknown - likely pathogenic g.152012230G>A g.152315145G>A - - MLL3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.613A>G r.(?) p.(Ile205Val) Unknown - likely benign g.152009009T>C - KMT2C(NM_170606.3):c.613A>G (p.(Ile205Val)) - MLL3_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.709A>G r.(?) p.(Ile237Val) Unknown - likely benign g.152008913T>C - KMT2C(NM_170606.2):c.709A>G (p.(Ile237Val)) - MLL3_000333 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.722C>G r.(?) p.(Ala241Gly) Unknown - VUS g.152008900G>C g.152311815G>C KMT2C(NM_170606.2):c.722C>G (p.A241G, p.(Ala241Gly)), KMT2C(NM_170606.3):c.722C>G (p.A241G) - MLL3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.722C>G r.(?) p.(Ala241Gly) Unknown - VUS g.152008900G>C - KMT2C(NM_170606.2):c.722C>G (p.A241G, p.(Ala241Gly)), KMT2C(NM_170606.3):c.722C>G (p.A241G) - MLL3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.722C>G r.(?) p.(Ala241Gly) Unknown - likely benign g.152008900G>C - KMT2C(NM_170606.2):c.722C>G (p.A241G, p.(Ala241Gly)), KMT2C(NM_170606.3):c.722C>G (p.A241G) - MLL3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.740-289G>A r.(=) p.(=) Unknown - likely benign g.152007449C>T - KMT2C(NM_170606.3):c.740-289G>A - MLL3_000378 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5i c.740-2A>C r.[740_781del,740_771del,=] p.[Thr248_Gly261del,Gly247ValfsTer32,=] Unknown - likely pathogenic g.152007162T>G g.152310077T>G - - MLL3_000343 effect on RNA exclusion of exon - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblasts mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
?/. - c.787T>G r.(?) p.(Cys263Gly) Unknown - VUS g.152007113A>C - KMT2C(NM_170606.2):c.787T>G (p.C263G) - MLL3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(?_849+12270)_(4660+109_?)del r.? p.? Unknown - pathogenic (dominant) g.(?_151890985)_(151994781_?)del g.(?_152193900)_(152297696_?)del hg19 151890985_151994781del - MLL3_000265 104kb deletion KMT2C ex7-31; ACMG PVS1, PM2_sup, PS2_sup PubMed: Rots 2024, Journal: Rots 2024 - - De novo yes - - - - DNA arrayCGH - - NDD Pat72 PubMed: Rots 2024, Journal: Rots 2024 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.850-11896G>A r.(=) p.(=) Unknown - likely benign g.151982848C>T - KMT2C(NM_170606.3):c.850-11896G>A - MLL3_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.850-11884T>C r.(=) p.(=) Unknown - likely benign g.151982836A>G - KMT2C(NM_170606.3):c.850-11884T>C - MLL3_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850-8245A>G r.(=) p.(=) Unknown - VUS g.151979197T>C - KMT2C(NM_170606.3):c.850-8245A>G - MLL3_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(?_850-8133)_(3712+522_?)del r.? p.? Unknown - pathogenic (dominant) g.(?_151917086)_(151979085_?)del g.(?_152220001)_(152282000_?)del hg19 151917086_151979085del - MLL3_000267 62kb deletion KMT2C ex2-23; ACMG PVS1, PM2_sup, PS2_sup PubMed: Rots 2024, Journal: Rots 2024 - - De novo yes - - - - DNA arrayCGH - - NDD Pat60 PubMed: Rots 2024, Journal: Rots 2024 - M - - - - - - - 1 Johan den Dunnen
?/. - c.850-7721A>G r.(=) p.(=) Unknown - VUS g.151978673T>C - KMT2C(NM_170606.3):c.850-7721A>G - MLL3_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.850-7C>T r.(=) p.(=) Unknown - likely benign g.151970959G>A g.152273874G>A KMT2C(NM_170606.2):c.850-7C>T - MLL3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.851G>A r.(?) p.(Arg284Gln) Unknown - likely benign g.151970951C>T g.152273866C>T KMT2C(NM_170606.2):c.851G>A (p.(Arg284Gln)) - MLL3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.925C>T r.(?) p.(Pro309Ser) Unknown - likely benign g.151970877G>A g.152273792G>A KMT2C(NM_170606.2):c.925C>T (p.(Pro309Ser)) - MLL3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.943G>A r.(?) p.(Gly315Ser) Unknown - likely benign g.151970859C>T g.152273774C>T KMT2C(NM_170606.2):c.943G>A (p.(Gly315Ser)) - MLL3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1012+1G>A r.spl? p.? Unknown - VUS g.151970789C>T - KMT2C(NM_170606.3):c.1012+1G>A - MLL3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1012+1G>C r.spl p.? Unknown - likely pathogenic (dominant) g.151970789C>G g.152273704C>G - - MLL3_000279 ACMG PVS1, PM2_sup PubMed: Rots 2024, Journal: Rots 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - NDD Pat58 PubMed: Rots 2024, Journal: Rots 2024 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.1012+95T>A r.(=) p.(=) Unknown - likely benign g.151970695A>T - KMT2C(NM_170606.3):c.1012+95T>A - MLL3_000377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1013-2A>G r.spl? p.? Unknown - likely benign g.151962296T>C g.152265211T>C KMT2C(NM_170606.2):c.1013-2A>G (p.?), KMT2C(NM_170606.3):c.1013-2A>G - MLL3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1013-2A>G r.spl? p.? Unknown - VUS g.151962296T>C g.152265211T>C KMT2C(NM_170606.2):c.1013-2A>G (p.?), KMT2C(NM_170606.3):c.1013-2A>G - MLL3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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