KMT2C Chromosome 7
Lysine methyltransferase 2C
Upload your DNA to see your personal genotypes for variants in KMT2C.
What This Gene Does
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"PHD finger proteins|Histone lysine methyltransferases|SET domain containing"
Locus Type
gene with protein product
Location
7q36.1
Ensembl
ENSG00000055609
Associated Conditions (28)
Inborn genetic diseases
Autism spectrum disorder
Autism
susceptiblity to
Kleefstra syndrome 2
atypical cerebral palsy
KMT2C-related disorder
Intellectual disability
Hepatocellular carcinoma
KMT2C-related NDD
Sarcoma
Global developmental delay
Cerebellar atrophy
Malignant tumor of esophagus
Neurodevelopmental delay
See cases
Colon adenocarcinoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Multiple myeloma
+8 more conditions
Key Variants
RS1019760354
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autism spectrum disorder, Inborn genetic diseases
Health Risk
RS1048886135
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS111493987
Conflicting classifications of pathogenicity
Autism, susceptiblity to, Kleefstra syndrome 2
Health Risk
RS114419085
Conflicting classifications of pathogenicity
Health Risk
RS12674022
Conflicting classifications of pathogenicity
Kleefstra syndrome 2, Kleefstra syndrome 2
Health Risk
RS138373177
Conflicting classifications of pathogenicity
Inborn genetic diseases, Kleefstra syndrome 2, Inborn genetic diseases
Health Risk
RS138845109
Conflicting classifications of pathogenicity
atypical cerebral palsy, KMT2C-related disorder, atypical cerebral palsy
Health Risk
RS1391811597
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140246095
Conflicting classifications of pathogenicity
Kleefstra syndrome 2, Kleefstra syndrome 2
Health Risk
RS140626076
Conflicting classifications of pathogenicity
Intellectual disability, Kleefstra syndrome 2, KMT2C-related disorder
Health Risk
RS140834550
Conflicting classifications of pathogenicity
KMT2C-related disorder, KMT2C-related disorder
Health Risk
RS140919432
Conflicting classifications of pathogenicity
Kleefstra syndrome 2, Kleefstra syndrome 2
Health Risk
All Variants (199)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS780138876 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS780982767 | Health Risk | Conflicting classifications of pathogenicity | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS781220804 | Health Risk | Conflicting classifications of pathogenicity | Kleefstra syndrome 2, Inborn genetic diseases, Kleefstra syndrome 2 |
| RS878978808 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Sarcoma, Colon adenocarcinoma |
| RS895237296 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS896573950 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS992987667 | Health Risk | Conflicting classifications of pathogenicity | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS1003155450 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |
| RS1057522023 | Health Risk | Likely pathogenic | — |
| RS1064795761 | Health Risk | Likely pathogenic | — |
| RS1064796813 | Health Risk | Likely pathogenic | — |
| RS1554496279 | Health Risk | Likely pathogenic | — |
| RS1554496813 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS1554501612 | Health Risk | Likely pathogenic | — |
| RS1554526666 | Health Risk | Likely pathogenic | — |
| RS1587896236 | Health Risk | Likely pathogenic | — |
| RS1587941402 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |
| RS1588119681 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2091357682 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2093489078 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2129092780 | Health Risk | Likely pathogenic | KMT2C-related disorder, KMT2C-related disorder |
| RS2129099779 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2129101553 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2129112579 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2129115309 | Health Risk | Likely pathogenic | — |
| RS2129119384 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2129119641 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2129120525 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2129128809 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2129145634 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2129145649 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2485789680 | Health Risk | Likely pathogenic | Tip-toe gait, Tip-toe gait |
| RS2485835065 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2486102657 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2487596421 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2487614684 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2487614749 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2487684914 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2487691137 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2487693202 | Health Risk | Likely pathogenic | — |
| RS2487794552 | Health Risk | Likely pathogenic | Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2487894291 | Health Risk | Likely pathogenic | KMT2C-related disorder, KMT2C-related disorder |
| RS755043772 | Health Risk | Likely pathogenic | — |
| RS778602278 | Health Risk | Likely pathogenic | Tip-toe gait, Tip-toe gait |
| RS1064793759 | Health Risk | Pathogenic | — |
| RS1246539243 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1359208225 | Health Risk | Pathogenic | — |
| RS1485613651 | Health Risk | Pathogenic | — |
| RS1554477105 | Health Risk | Pathogenic | Kleefstra syndrome 2, KMT2C-related NDD, Kleefstra syndrome 2 |
| RS1554505381 | Health Risk | Pathogenic | Kleefstra syndrome 2, KMT2C-related NDD, Kleefstra syndrome 2 |