Center for Personalized Medicine (Children's Hospital Los Angeles), CPM
General information
Center for Personalized Medicine, CPM
Children's Hospital Los Angeles
4650 Sunset Blvd.m
Los Angeles
California
United States - 90027
http://www.chla.org/center-personalized-medicine
Organization ID: 506200
Children's Hospital Los Angeles
4650 Sunset Blvd.m
Los Angeles
California
United States - 90027
http://www.chla.org/center-personalized-medicine
Organization ID: 506200
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 242
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA3 | 4 | Dec 16, 2024 |
| ACTA1 | 1 | Mar 22, 2023 |
| ADAR | 2 | Dec 16, 2024 |
| AHDC1 | 1 | Mar 22, 2023 |
| AHI1 | 1 | Dec 16, 2024 |
| ALG13 | 1 | Dec 16, 2024 |
| ALPL | 2 | Dec 16, 2024 |
| ANK2 | 1 | Mar 22, 2023 |
| AP1B1 | 1 | Dec 16, 2024 |
| ARFGEF1 | 1 | Dec 16, 2024 |
| ARID1B | 2 | Dec 16, 2024 |
| ASXL3 | 1 | Mar 22, 2023 |
| ATP1A2 | 1 | Mar 22, 2023 |
| ATRX | 1 | Dec 16, 2024 |
| BCL11A | 2 | Dec 16, 2024 |
| BCORL1 | 1 | Dec 16, 2024 |
| BMPR2 | 1 | Dec 16, 2024 |
| BPTF | 1 | Dec 16, 2024 |
| BRCA2 | 1 | Dec 16, 2024 |
| C2CD3 | 1 | Dec 16, 2024 |
| CACNA1A | 2 | Dec 16, 2024 |
| CACNA1D | 1 | Mar 22, 2023 |
| CAMTA1 | 1 | Mar 22, 2023 |
| CASR | 1 | Dec 16, 2024 |
| CEL | 1 | Dec 16, 2024 |
| CHD7 | 1 | Mar 22, 2023 |
| CHEK2 | 1 | Dec 16, 2024 |
| CHN1 | 1 | Dec 16, 2024 |
| CIITA | 1 | Dec 16, 2024 |
| CLCN2 | 1 | Dec 16, 2024 |
| CLN6 | 1 | Mar 22, 2023 |
| COL17A1 | 1 | Dec 16, 2024 |
| COL1A1 | 2 | Dec 16, 2024 |
| COL2A1 | 1 | Dec 16, 2024 |
| COL5A2 | 1 | Dec 16, 2024 |
| COL6A2 | 1 | Dec 16, 2024 |
| COL6A3 | 1 | Dec 16, 2024 |
| COL7A1 | 2 | Mar 22, 2023 |
| COPA | 1 | Mar 22, 2023 |
| CPT2 | 1 | Dec 16, 2024 |
| CREBBP | 2 | Dec 16, 2024 |
| CSPP1 | 1 | Dec 16, 2024 |
| CTCF | 1 | Mar 22, 2023 |
| DCC | 1 | Dec 16, 2024 |
| DCHS1 | 3 | Dec 16, 2024 |
| DDX3X | 1 | Mar 22, 2023 |
| DEPDC5 | 2 | Dec 16, 2024 |
| DES | 1 | Dec 16, 2024 |
| DNAH11 | 1 | Dec 16, 2024 |
| DNAH5 | 1 | Dec 16, 2024 |
| DNAJC21 | 1 | Dec 16, 2024 |
| DNMT1 | 1 | Dec 16, 2024 |
| DPP6 | 1 | Mar 22, 2023 |
| DPYD | 1 | Dec 16, 2024 |
| DRC2 | 1 | Dec 16, 2024 |
| DYNC1H1 | 1 | Mar 22, 2023 |
| DYNC2H1 | 1 | Dec 16, 2024 |
| DYNC2I1 | 1 | Mar 22, 2023 |
| DYRK1A | 1 | Mar 22, 2023 |
| EARS2 | 2 | Mar 22, 2023 |
| EEF1A2 | 1 | Apr 10, 2020 |
| EFTUD2 | 1 | Mar 22, 2023 |
| EIF2B5 | 1 | Dec 16, 2024 |
| ERCC8 | 1 | Mar 22, 2023 |
| ERF | 1 | Dec 16, 2024 |
| EXOSC3 | 1 | Mar 22, 2023 |
| FAM111B | 1 | Dec 16, 2024 |
| FARS2 | 2 | Mar 22, 2023 |
| FAT4 | 2 | Dec 16, 2024 |
| FBN1 | 1 | Mar 22, 2023 |
| FGF14 | 1 | Dec 16, 2024 |
| FKBP10 | 1 | Dec 16, 2024 |
| FLNA | 1 | Dec 16, 2024 |
| FLNB | 1 | Mar 22, 2023 |
| FOXN1 | 1 | Dec 16, 2024 |
| FOXP1 | 1 | Mar 22, 2023 |
| FOXP2 | 1 | Dec 16, 2024 |
| FOXP3 | 1 | Dec 16, 2024 |
| FRRS1L | 2 | Mar 22, 2023 |
| GABRB3 | 1 | Dec 16, 2024 |
| GATA3 | 1 | Mar 22, 2023 |
| GATA4 | 1 | Dec 16, 2024 |
| GATAD2B | 1 | Mar 22, 2023 |
| GFM1 | 2 | Mar 22, 2023 |
| GJB2 | 1 | Dec 16, 2024 |
| GNS | 1 | Dec 16, 2024 |
| GRID2 | 1 | Mar 22, 2023 |
| GRIN1 | 1 | Dec 16, 2024 |
| GTPBP3 | 2 | Mar 22, 2023 |
| HERC2 | 1 | Dec 16, 2024 |
| HIBCH | 2 | Mar 22, 2023 |
| HRAS | 1 | Mar 22, 2023 |
| HYDIN | 2 | Dec 16, 2024 |
| IDS | 1 | Dec 16, 2024 |
| IGF2 | 1 | Mar 22, 2023 |
| IGHMBP2 | 1 | Sep 22, 2017 |
| IL2RG | 1 | Mar 22, 2023 |
| INPP5E | 1 | Nov 19, 2018 |
| INS-IGF2 | 1 | Mar 22, 2023 |
| ITGB4 | 1 | Mar 22, 2023 |
| JAK3 | 1 | Dec 16, 2024 |
| KANSL1 | 1 | Mar 22, 2023 |
| KAT6A | 1 | Mar 22, 2023 |
| KCNJ6 | 1 | Mar 22, 2023 |
| KCNJ6-AS1 | 1 | Mar 22, 2023 |
| KCNQ1 | 1 | Dec 16, 2024 |
| KIF1A | 1 | Dec 16, 2024 |
| KMT2B | 1 | Mar 22, 2023 |
| KMT2D | 2 | Mar 22, 2023 |
| LDLR | 1 | Dec 16, 2024 |
| LOC102724058 | 4 | Dec 16, 2024 |
| LOC105371566 | 1 | Dec 16, 2024 |
| LOC121392929 | 1 | Dec 16, 2024 |
| LOC125467768 | 1 | Dec 16, 2024 |
| LOC126861406 | 1 | Mar 22, 2023 |
| LOC126861898 | 1 | Dec 16, 2024 |
| LOC126862264 | 1 | Dec 16, 2024 |
| LOC129930561 | 1 | Dec 16, 2024 |
| LRRC56 | 1 | Mar 22, 2023 |
| MED25 | 1 | Dec 16, 2024 |
| MEFV | 2 | Dec 16, 2024 |
| MEN1 | 1 | Dec 16, 2024 |
| MLH1 | 1 | Dec 16, 2024 |
| MT-ND1 | 1 | Dec 21, 2021 |
| MTM1 | 1 | Dec 16, 2024 |
| MYH7 | 1 | Dec 16, 2024 |
| MYH8 | 1 | Dec 16, 2024 |
| MYHAS | 1 | Dec 16, 2024 |
| MYLK | 1 | Dec 16, 2024 |
| MYO15A | 1 | Dec 16, 2024 |
| MYOC | 1 | Dec 16, 2024 |
| NAGLU | 1 | Mar 22, 2023 |
| NBAS | 2 | Mar 22, 2023 |
| NCAPD3 | 1 | Mar 22, 2023 |
| NEK1 | 2 | Dec 16, 2024 |
| NF1 | 2 | Dec 16, 2024 |
| NHLH1 | 1 | Mar 22, 2023 |
| NKX2-1 | 1 | Mar 22, 2023 |
| NR2F1 | 2 | Dec 16, 2024 |
| NR2F1-AS1 | 2 | Dec 16, 2024 |
| NSD1 | 3 | Dec 16, 2024 |
| OBSL1 | 2 | Dec 16, 2024 |
| PACS1 | 1 | Dec 16, 2024 |
| PAX8 | 1 | Dec 16, 2024 |
| PCDH19 | 1 | Dec 16, 2024 |
| PEX2 | 1 | Mar 22, 2023 |
| PEX6 | 2 | Mar 22, 2023 |
| PGAP3 | 1 | Dec 16, 2024 |
| PHIP | 2 | Mar 22, 2023 |
| PIK3CA | 1 | Mar 22, 2023 |
| PIK3R1 | 2 | Mar 22, 2023 |
| PIK3R2 | 1 | Dec 16, 2024 |
| PKHD1 | 1 | Dec 16, 2024 |
| PLAA | 1 | Dec 16, 2024 |
| PLP1 | 1 | Mar 22, 2023 |
| PMS2 | 1 | Dec 16, 2024 |
| POLG | 1 | Dec 16, 2024 |
| POLGARF | 1 | Dec 16, 2024 |
| PPP2R1A | 1 | Dec 16, 2024 |
| PTEN | 2 | Dec 16, 2024 |
| PTPN11 | 1 | Mar 22, 2023 |
| PUF60 | 1 | Mar 22, 2023 |
| QARS1 | 2 | Dec 16, 2024 |
| RAB9B | 1 | Mar 22, 2023 |
| RAC2 | 1 | Dec 16, 2024 |
| RAG2 | 1 | Dec 16, 2024 |
| RB1 | 1 | Mar 22, 2023 |
| RPS26 | 1 | Dec 16, 2024 |
| RYR1 | 4 | Dec 16, 2024 |
| SCN1A | 4 | Dec 16, 2024 |
| SCN5A | 1 | Dec 16, 2024 |
| SCNN1A | 1 | Dec 16, 2024 |
| SETD2 | 1 | Mar 22, 2023 |
| SETD5 | 1 | Mar 22, 2023 |
| SF3B4 | 1 | Dec 16, 2024 |
| SFTA3 | 1 | Mar 22, 2023 |
| SFTPC | 1 | Dec 16, 2024 |
| SHOC2 | 1 | Mar 22, 2023 |
| SLC12A1 | 1 | Dec 16, 2024 |
| SLC6A1 | 1 | Mar 22, 2023 |
| SLC9A6 | 1 | Dec 16, 2024 |
| SMARCB1 | 1 | Dec 16, 2024 |
| SMC1A | 1 | Mar 22, 2023 |
| SOX3 | 1 | Dec 16, 2024 |
| SPTA1 | 1 | Mar 22, 2023 |
| STAT1 | 3 | Dec 16, 2024 |
| SYNE2 | 1 | Dec 16, 2024 |
| SZT2 | 2 | Dec 16, 2024 |
| TBR1 | 1 | Mar 22, 2023 |
| TCOF1 | 1 | Dec 16, 2024 |
| TGFB1 | 1 | Mar 22, 2023 |
| TMCO1 | 2 | Dec 16, 2024 |
| TNFRSF13B | 2 | Dec 16, 2024 |
| TNNT3 | 1 | Dec 16, 2024 |
| TP53 | 2 | Dec 16, 2024 |
| TRH | 1 | Dec 16, 2024 |
| TRPM4 | 1 | Dec 16, 2024 |
| TTN | 1 | Dec 16, 2024 |
| TTN-AS1 | 1 | Dec 16, 2024 |
| TTR | 1 | Dec 16, 2024 |
| TYR | 2 | Mar 22, 2023 |
| USH2A | 2 | Dec 16, 2024 |
| USH2A-AS2 | 1 | Dec 16, 2024 |
| USP7 | 2 | Dec 16, 2024 |
| VANGL1 | 1 | Dec 16, 2024 |
| VWF | 1 | Mar 22, 2023 |
| WFS1 | 1 | Dec 16, 2024 |
| XDH | 2 | Dec 16, 2024 |
| XIAP | 1 | Mar 22, 2023 |
| ZC4H2 | 1 | Mar 22, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormal pulmonary interstitial morphology | 1 | Nov 19, 2018 |
| Absent epiphyses | 1 | Nov 19, 2018 |
| Chronic lung disease | 1 | Nov 19, 2018 |
| Cleft palate | 1 | Nov 19, 2018 |
| Clonus | 1 | Sep 22, 2017 |
| Clubfoot | 1 | Nov 19, 2018 |
| Coat hanger sign of ribs | 1 | Nov 19, 2018 |
| Developmental and epileptic encephalopathy, 33 | 1 | Apr 10, 2020 |
| Failure to thrive | 1 | Sep 22, 2017 |
| Hemivertebrae | 1 | Nov 19, 2018 |
| Hyperreflexia | 1 | Sep 22, 2017 |
| Leigh syndrome | 1 | Dec 21, 2021 |
| Li-Fraumeni syndrome 1 | 1 | Mar 16, 2018 |
| Micrognathia | 1 | Nov 19, 2018 |
| Patent ductus arteriosus | 1 | Nov 19, 2018 |
| Preaxial foot polydactyly | 1 | Nov 19, 2018 |
| Pseudoarthrosis | 1 | Nov 19, 2018 |
| Ptosis | 1 | Sep 22, 2017 |
| Respiratory distress | 1 | Sep 22, 2017 |
| Respiratory failure | 1 | Nov 19, 2018 |
| STAT1-related disorder | 1 | Sep 28, 2022 |
| See cases | 92 | Mar 22, 2023 |
| Severe muscular hypotonia | 1 | Sep 22, 2017 |
| Short femur | 1 | Nov 19, 2018 |
| Skeletal dysplasia | 1 | Nov 19, 2018 |
| Tachypnea | 1 | Sep 22, 2017 |
| Vertebral hypoplasia | 1 | Nov 19, 2018 |
| Vertebral segmentation defect | 1 | Nov 19, 2018 |
| not provided | 144 | Dec 16, 2024 |