| - GRCh38:
- Chr4:11399082-38137335
| CCDC149, CCKAR, CD38, CLRN2, CPEB2, CPEB2-DT, DCAF16, DHX15, DTHD1, FAM184B, FAM200B, FBXL5, FGFBP1, FGFBP2, GBA3, HS3ST1, KCNIP4, KCNIP4-IT1, LINC02484, LINC02493, LINC02497, LINC02501, LINC02505, LINC02506, LINC02616, LOC100505912, LOC101928622, LOC101928721, LOC101929161, LOC105374511, LOC105374516, LOC105374556, LOC105374557, LOC105377651, LOC107986178, LOC110120633, LOC110120784, LOC110121305, LOC111465013, LOC111721707, LOC111828517, LOC112939924, LOC123477715, LOC123477716, LOC123477717, LOC123477718, LOC123477719, LOC123477720, LOC123477721, LOC123477723, LOC123477724, LOC123477725, LOC123477726, LOC123477727, LOC123477728, LOC126806976, LOC126806977, LOC126806978, LOC126806979, LOC126806980, LOC126806981, LOC126806982, LOC126806983, LOC126806984, LOC126806985, LOC126807000, LOC126807001, LOC126807002, LOC126807003, LOC126807004, LOC126807005, LOC126807006, LOC126807007, LOC126807008, LOC126807009, LOC126807010, LOC126807011, LOC126807012, LOC126807013, LOC126807014, LOC126807015, LOC126807016, LOC126807017, LOC126807018, LOC126807019, LOC126807020, LOC126807021, LOC126807022, LOC126807032, LOC126807033, LOC126807034, LOC126807035, LOC439933, MED28, MIR12113, MIR12115, MIR1255B1, MIR218-1, MIR4275, MIR4801, MIR5091, MIR573, MIR7978, NCAPG, NKX3-2, NWD2, PACRGL, PCDH7, PGM2, PI4K2B, SEPSECS-AS1, SLC34A2, SLIT2, SLIT2-IT1, SMIM20, SNORA75B, SOD3, STIM2, STIM2-AS1, TAPT1, TAPT1-AS1, TBC1D1, TBC1D19, ZCCHC4, LAP3, LOC112939928, LOC112939929, LOC126806986, LOC126807023, PPARGC1A, RBPJ, RELL1, SEL1L3, SEPSECS, LOC126807024, LOC126807027, LOC126807031, LOC126807025, LOC126807028, LOC126807029, LOC126807030, LOC126807026, PROM1, PTTG2, QDPR, RAB28, LOC126806987, LOC126806996, LOC121048742, LOC121725169, LOC123477709, LOC123477710, LOC123477711, LOC123477712, LOC114827818, LOC121048739, LOC121048740, LOC121048741, LOC126806997, LOC126806989, LOC126806990, LOC126806993, LOC126806994, LOC126806995, LOC126806998, LOC126806999, LOC126806988, LCORL, LDB2, LGI2, LINC01097, LINC01182, LINC02261, LINC02270, LINC02472, LINC02473, LINC00504, LINC01085, LINC01096, LINC02353, LINC02360, LINC02364, LOC126806991, LOC126806992, LOC112939931, LOC112939932, LOC114004385, LOC123477707, LOC123477708, LOC123477713, LOC123477714, ARAP2, BOD1L1, ADGRA3, ANAPC4, C4orf19, CC2D2A, BST1, C1QTNF7, C1QTNF7-AS1 | | 4p partial monosomy syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr4:1957856-1957857
- GRCh38:
- Chr4:1956129-1956130
| NSD2 | D943fs | 4p partial monosomy syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr4:1918764
- GRCh38:
- Chr4:1917037
| NSD2 | K309N | 4p partial monosomy syndrome | Likely pathogenic
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh38:
- Chr1:163345778
| NUF2 | L303P | 4p partial monosomy syndrome | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr4:1980561
- GRCh38:
- Chr4:1978834
| NSD2 | | not provided, 4p partial monosomy syndrome, Rauch-Steindl syndrome
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1850954-1850955
- GRCh38:
- Chr4:1849227-1849228
| LETM1 | | not provided, 4p partial monosomy syndrome | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1980628
- GRCh38:
- Chr4:1978901
| NSD2 | G1364S | not provided, 4p partial monosomy syndrome | Uncertain significance
(Apr 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1961431-1961432
- GRCh38:
- Chr4:1959704-1959705
| NSD2 | G1076fs | 4p partial monosomy syndrome | Pathogenic
(Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1957576
- GRCh38:
- Chr4:1955849
| NSD2 | R892K | 4p partial monosomy syndrome | Uncertain significance
(Nov 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1843342
- GRCh38:
- Chr4:1841615
| LETM1 | H109R | not provided, 4p partial monosomy syndrome | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1219176
- GRCh38:
- Chr4:1225388
| CTBP1 | | not provided, Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 4p partial monosomy syndrome
| Benign/Likely benign
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1962777
- GRCh38:
- Chr4:1961050
| NSD2 | E1091K | 4p partial monosomy syndrome | Uncertain significance
(Dec 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1959665
- GRCh38:
- Chr4:1957938
| NSD2 | Q963* | 4p partial monosomy syndrome | Pathogenic
(Mar 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1018222
- GRCh38:
- Chr4:1024434
| FGFRL1 | L281R | 4p partial monosomy syndrome | Uncertain significance
(Jun 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1825442
- GRCh38:
- Chr4:1823715
| LETM1 | M421L | 4p partial monosomy syndrome | Uncertain significance
(Aug 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1843275
- GRCh38:
- Chr4:1841548
| LETM1 | N131K | not provided, 4p partial monosomy syndrome | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1017712
- GRCh38:
- Chr4:1023924
| FGFRL1 | D181N | 4p partial monosomy syndrome, not provided | Benign/Likely benign
(Mar 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:19186845-24548281
| ADGRA3, DHX15, GBA3, KCNIP4, PACRGL, PPARGC1A, SLIT2 | | 4p partial monosomy syndrome | Pathogenic
(Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1305802-2460571
| HAUS3, FAM53A, FGFR3, NICOL1, NKX1-1, ZFYVE28, CRIPAK, LETM1, MAEA, MXD4, NAT8L, NELFA, NSD2, POLN, SLBP, TACC3, TMEM129, UVSSA | | 4p partial monosomy syndrome | Pathogenic
(Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:75742-8672411
| JAKMIP1, KIAA0232, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, MXD4, MYL5, NSG1, OTOP1, ZNF732, MFSD10, ABLIM2, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, NAT8L, ACOX3, ADD1, ADRA2C, AFAP1, ATP5ME, BLOC1S4, C4orf50, CCDC96, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CYTL1, DGKQ, DOK7, EVC, EVC2, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HTRA3, HTT, IDUA, LETM1, LINC01587, LRPAP1, LYAR, MAEA, MAN2B2, NELFA, NICOL1, NKX1-1, NOP14, NSD2, PCGF3, PDE6B, PIGG, POLN, PPP2R2C, PSAPL1, RGS12, RNF212, RNF4, S100P, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC49A3, SORCS2, SPON2, STK32B, STX18, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TNIP2, TRMT44, UVSSA, WFS1, ZBTB49 | | 4p partial monosomy syndrome | Pathogenic
(Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1918630
- GRCh38:
- Chr4:1916903
| NSD2 | Q265* | 4p partial monosomy syndrome, Wolf-Hirschhorn like syndrome | Pathogenic
(Nov 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1906053
- GRCh38:
- Chr4:1904326
| NSD2 | W236* | 4p partial monosomy syndrome, Wolf-Hirschhorn like syndrome | Pathogenic
(Oct 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1936881-1936882
- GRCh38:
- Chr4:1935154-1935155
| NSD2 | K524fs | 4p partial monosomy syndrome, Wolf-Hirschhorn like syndrome | Pathogenic
(Oct 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1940176-1940179
- GRCh38:
- Chr4:1938449-1938452
| NSD2 | | Neurodevelopmental delay, not provided, 4p partial monosomy syndrome,
Rauch-Steindl syndrome, Global developmental delay | Pathogenic
(May 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1982645-1982646
- GRCh38:
- Chr4:1980918-1980919
| NSD2 | | 4p partial monosomy syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1982557-1982558
- GRCh38:
- Chr4:1980830-1980831
| NSD2 | | 4p partial monosomy syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1981999-1982000
- GRCh38:
- Chr4:1980272-1980273
| NSD2 | | 4p partial monosomy syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1980975-1980977
- GRCh38:
- Chr4:1979248-1979250
| NSD2 | | 4p partial monosomy syndrome | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1952819
- GRCh38:
- Chr4:1951092
| NSD2 | | not provided, 4p partial monosomy syndrome | Conflicting interpretations of pathogenicity
(Sep 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:1895445-1895446
- GRCh38:
- Chr4:1893718-1893719
| NSD2 | | 4p partial monosomy syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |