Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_024757.4(EHMT1):c.391delG (p.Ala131Profs) | 79813 | EHMT1 | Pathogenic | 797045043 | RCV000191083; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140611382 | 140611383 | NM_024757.4:c.391delG | NP_079033.4:p.Ala131Profs | NC_000009.11:g.140611383delG | - | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.871C>T (p.Arg291Ter) | 79813 | EHMT1 | Pathogenic | 137852714 | RCV000003792; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140637870 | 140637870 | NM_024757.4:c.871C>T | NP_079033.4:p.Arg291Ter | NC_000009.11:g.140637870C>T | OMIM Allelic Variant:607001.0004 | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.1413_1425delGGCACCAGGAGAC (p.Pro473Glnfs) | 79813 | EHMT1 | Pathogenic | 137852715 | RCV000003790; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140652375 | 140652387 | NM_024757.4:c.1413_1425delGGCACCAGGAGAC | NP_079033.4:p.Pro473Glnfs | NC_000009.11:g.140652375_140652387delGGCACCAGGAGAC | OMIM Allelic Variant:607001.0002 | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.1533_1536delAGAC (p.Asp512Alafs) | 79813 | EHMT1 | Pathogenic | 137852716 | RCV000055956; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140657158 | 140657161 | NM_024757.4:c.1533_1536delAGAC | NP_079033.4:p.Asp512Alafs | NC_000009.11:g.140657158_140657161delAGAC | - | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.1810C>T (p.Gln604Ter) | 79813 | EHMT1 | Pathogenic | 137852717 | RCV000055958; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140671088 | 140671088 | NM_024757.4:c.1810C>T | NP_079033.4:p.Gln604Ter | NC_000009.11:g.140671088C>T | - | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.1858C>T (p.Arg620Ter) | 79813 | EHMT1 | Pathogenic | 137852718 | RCV000055959; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140671136 | 140671136 | NM_024757.4:c.1858C>T | NP_079033.4:p.Arg620Ter | NC_000009.11:g.140671136C>T | - | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.2028dupG (p.Pro677Alafs) | 79813 | EHMT1 | Pathogenic | 786205128 | RCV000055960; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140672343 | 140672343 | NM_024757.4:c.2028dupG | NP_079033.4:p.Pro677Alafs | NC_000009.11:g.140672343dupG | - | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.2193-1G>C | 79813 | EHMT1 | Pathogenic | 137852720 | RCV000055961; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140674086 | 140674086 | NM_024757.4:c.2193-1G>C | | NC_000009.11:g.140674086G>C | - | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.2863_2864delGT (p.Val955Argfs) | 79813 | EHMT1 | Pathogenic | 137852721 | RCV000055962; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140706063 | 140706064 | NM_024757.4:c.2863_2864delGT | NP_079033.4:p.Val955Argfs | NC_000009.11:g.140706063_140706064delGT | - | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.2868-1G>A | 79813 | EHMT1 | Pathogenic | 137852722 | RCV000055963; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140707457 | 140707457 | NM_024757.4:c.2868-1G>A | | NC_000009.11:g.140707457G>A | - | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.2877_2880delTTCT (p.Ser960Glyfs) | 79813 | EHMT1 | Pathogenic | 786205129 | RCV000055964; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140707467 | 140707470 | NM_024757.4:c.2877_2880delTTCT | NP_079033.4:p.Ser960Glyfs | NC_000009.11:g.140707467_140707470delTTCT | - | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.3180+1G>T | 79813 | EHMT1 | Pathogenic | 137852724 | RCV000055965; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140707983 | 140707983 | NM_024757.4:c.3180+1G>T | | NC_000009.11:g.140707983G>T | - | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.3181-80_3233del | 79813 | EHMT1 | Pathogenic | -1 | RCV000034168; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140708803 | 140708935 | NM_024757.4:c.3181-80_3233del | | | dbVar:nssv3761548,dbVar:nsv1067894 | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.3218G>A (p.Cys1073Tyr) | 79813 | EHMT1 | Pathogenic | 137852726 | RCV000003791; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140708920 | 140708920 | NM_024757.4:c.3218G>A | NP_079033.4:p.Cys1073Tyr | NC_000009.11:g.140708920G>A | OMIM Allelic Variant:607001.0003 | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.3229C>T (p.Gln1077Ter) | 79813 | EHMT1 | Pathogenic | 137852725 | RCV000055966; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140708931 | 140708931 | NM_024757.4:c.3229C>T | NP_079033.4:p.Gln1077Ter | NC_000009.11:g.140708931C>T | - | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.3502C>T (p.Arg1168Ter) | 79813 | EHMT1 | Pathogenic | 121918301 | RCV000003789; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140712552 | 140712552 | NM_024757.4:c.3502C>T | NP_079033.4:p.Arg1168Ter | NC_000009.11:g.140712552C>T | OMIM Allelic Variant:607001.0001 | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_024757.4(EHMT1):c.3589C>T (p.Arg1197Trp) | 79813 | EHMT1 | Pathogenic | 137852727 | RCV000055967; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 9 | 140728849 | 140728849 | NM_024757.4:c.3589C>T | NP_079033.4:p.Arg1197Trp | NC_000009.11:g.140728849C>T | - | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_170606.2(KMT2C):c.4441C>T (p.Arg1481Ter) | 58508 | KMT2C | Uncertain significance | 587777073 | RCV000074464; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 7 | 151891591 | 151891591 | NM_170606.2:c.4441C>T | NP_733751.2:p.Arg1481Ter | 7:g.151891591G>A | OMIM Allelic Variant:606833.0001 | C0795833 610253 Chromosome 9q deletion syndrome | | |
NM_001077482.2(NR1I3):c.740T>C (p.Phe247Ser) | 9970 | NR1I3 | Uncertain significance | 398122411 | RCV000074463; | N | MedGen:C0795833,OMIM:610253,ORPHA:261494 | 1 | 161200990 | 161200990 | NM_001077482.2:c.740T>C | NP_001070950.1:p.Phe247Ser | NC_000001.10:g.161200990A>G | OMIM Allelic Variant:603881.0001 | C0795833 610253 Chromosome 9q deletion syndrome | | |