| - GRCh37:
- Chr9:203861-7959823
| AK3, CD274, CDC37L1, DMAC1, DMRT1, DMRT2, DMRT3, DOCK8, DOCK8-AS1, ERMP1, GLDC, GLIS3, IL33, INSL4, INSL6, JAK2, KANK1, KCNV2, KDM4C, KIAA2026, MIR101-2, MLANA, PDCD1LG2, PLGRKT, PLPP6, PUM3, RANBP6, RCL1, RFX3, RIC1, RLN1, RLN2, SLC1A1, SMARCA2, SPATA6L, TPD52L3, UHRF2, VLDLR | | Chromosome 9p deletion syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr9:4992582-19322101
| ADAMTSL1, BNC2, CCDC171, CD274, CER1, CNTLN, DENND4C, DMAC1, ERMP1, FREM1, GLDC, HAUS6, IL33, INSL4, INSL6, JAK2, KDM4C, KIAA2026, LURAP1L, MLANA, MPDZ, NFIB, PDCD1LG2, PLGRKT, PLIN2, PSIP1, PTPRD, RANBP6, RIC1, RLN1, RLN2, RRAGA, SAXO1, SH3GL2, SNAPC3, TPD52L3, TTC39B, TYRP1, UHRF2, ZDHHC21 | | Chromosome 9p deletion syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr9:203861-12570076
| AK3, CD274, CDC37L1, DMAC1, DMRT1, DMRT2, DMRT3, DOCK8, DOCK8-AS1, ERMP1, GLDC, GLIS3, IL33, INSL4, INSL6, JAK2, KANK1, KCNV2, KDM4C, KIAA2026, MIR101-2, MLANA, PDCD1LG2, PLGRKT, PLPP6, PTPRD, PUM3, RANBP6, RCL1, RFX3, RIC1, RLN1, RLN2, SLC1A1, SMARCA2, SPATA6L, TPD52L3, UHRF2, VLDLR | | Chromosome 9p deletion syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr9:203861-12127088
| AK3, CD274, CDC37L1, DMAC1, DMRT1, DMRT2, DMRT3, DOCK8, DOCK8-AS1, ERMP1, GLDC, GLIS3, IL33, INSL4, INSL6, JAK2, KANK1, KCNV2, KDM4C, KIAA2026, MIR101-2, MLANA, PDCD1LG2, PLGRKT, PLPP6, PTPRD, PUM3, RANBP6, RCL1, RFX3, RIC1, RLN1, RLN2, SLC1A1, SMARCA2, SPATA6L, TPD52L3, UHRF2, VLDLR | | Chromosome 9p deletion syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr9:203987-11602476
| AK3, CD274, LOC124210612, LOC124210613, LOC124210614, LOC124210615, SPATA6L, TPD52L3, UHRF2, VLDLR, VLDLR-AS1, LOC126860567, LOC126860568, LOC126860569, LOC126860570, LOC126860571, LOC126860559, LOC126860560, LOC126860561, LOC126860565, LOC126860566, LOC126860555, LOC126860556, LOC126860557, CDC37L1, CDC37L1-DT, ERMP1, GLDC, GLIS3, GLIS3-AS1, GLIS3-AS2, IL33, INSL4, INSL6, JAK2, KANK1, KCNV2, KDM4C, DMAC1, LOC126860552, LOC126860553, LOC126860554, LOC126860558, LOC126860562, LOC126860563, LOC126860564, DMRT1, DMRT2, DMRT3, DOCK8, DOCK8-AS1, KIAA2026, LINC01230, LINC01231, LINC02851, LOC105375972, LOC107522029, LOC107882132, LOC108281132, LOC110120591, LOC110120655, LOC110121072, LOC110121197, LOC111413010, LOC111465019, LOC113839544, LOC113839554, LOC114022704, LOC121331316, LOC121331317, LOC121331318, LOC121331319, LOC121740737, LOC121740738, LOC121740739, LOC121811698, LOC124210605, LOC124210606, LOC124210607, LOC124210608, LOC124210609, LOC124210610, LOC124210611, LOC126860572, LOC126860573, LOC126860574, LOC126860575, LOC126860576, LOC126860577, LOC126860578, LOC126860579, MIR101-2, MIR4665, MLANA, PDCD1LG2, PLGRKT, PLPP6, PTPRD, PTPRD-AS1, PTPRD-DT, PUM3, RANBP6, RCL1, RFX3, RFX3-DT, RIC1, RLN1, RLN2, SLC1A1, SMARCA2 | | Chromosome 9p deletion syndrome | Pathogenic
(Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:13638428-17121764
| BNC2, CCDC171, CER1, FREM1, NFIB, PSIP1, SNAPC3, TTC39B, ZDHHC21 | | Chromosome 9p deletion syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr9:204193-18073357
| AK3, BNC2, CCDC171, CD274, CDC37L1, CER1, CNTLN, DMAC1, DMRT1, DMRT2, DMRT3, DOCK8, DOCK8-AS1, ERMP1, JAK2, FREM1, GLDC, GLIS3, IL33, INSL4, INSL6, KANK1, KCNV2, KDM4C, KIAA2026, LURAP1L, MIR101-2, MLANA, MPDZ, NFIB, PDCD1LG2, PLGRKT, PLPP6, PSIP1, PTPRD, PUM3, RANBP6, RCL1, RFX3, RIC1, RLN1, RLN2, SH3GL2, SLC1A1, SMARCA2, SNAPC3, SPATA6L, TPD52L3, TTC39B, TYRP1, UHRF2, VLDLR, ZDHHC21 | | Chromosome 9p deletion syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr9:1-190938
| MIR1302-9, MIR1302-9HG, PGM5P3-AS1, WASHC1, ZNG1A, LINC01388, LOC110120718, LOC124210604, FAM138C, FOXD4 | | Chromosome 9p deletion syndrome | Pathogenic
(May 7, 2020) | criteria provided, single submitter |