Richard Lifton Laboratory (Yale University)
General information
Personnel
- Neil Romberg
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 400
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC2 | 2 | Mar 18, 2014 |
| ABCC5 | 1 | Jun 7, 2013 |
| ABHD12 | 2 | Mar 18, 2014 |
| ABL2 | 1 | Jun 7, 2013 |
| ABLIM3 | 2 | Jun 7, 2013 |
| ADAM15 | 2 | Mar 18, 2014 |
| ADAM15-EFNA4 | 2 | Mar 18, 2014 |
| ADAMTS18 | 2 | Mar 18, 2014 |
| ADAMTS2 | 2 | Mar 18, 2014 |
| ADAP2 | 1 | Jun 7, 2013 |
| ADCY2 | 1 | Jun 7, 2013 |
| ADGRF4 | 1 | Jun 7, 2013 |
| ANKRD13D | 1 | Jun 7, 2013 |
| AP4B1 | 2 | Mar 18, 2014 |
| APOB | 1 | Jun 7, 2013 |
| ARHGAP6 | 2 | Mar 18, 2014 |
| ARHGAP9 | 1 | Jun 7, 2013 |
| ARHGEF18 | 1 | Jun 7, 2013 |
| ARHGEF9 | 2 | Mar 18, 2014 |
| ARMC12 | 1 | Jun 7, 2013 |
| ARRDC3 | 1 | Jun 7, 2013 |
| ATP13A2 | 1 | Jun 7, 2013 |
| ATP2A2 | 1 | Jun 7, 2013 |
| ATP6V1C2 | 1 | Jun 7, 2013 |
| ATP7B | 2 | Mar 18, 2014 |
| ATRX | 1 | Jun 7, 2013 |
| ATXN7L3-AS1 | 2 | Mar 18, 2014 |
| BBS4 | 2 | Mar 18, 2014 |
| BBS7 | 2 | Mar 18, 2014 |
| BFSP2 | 2 | Mar 18, 2014 |
| BFSP2-AS1 | 2 | Mar 18, 2014 |
| C20orf141 | 1 | Jun 7, 2013 |
| CACNA1D | 3 | Jun 7, 2013 |
| CACNA1H | 1 | Mar 27, 2015 |
| CAST | 2 | Mar 18, 2014 |
| CCDC15 | 1 | Jun 7, 2013 |
| CCDC59 | 1 | Jun 7, 2013 |
| CCL23 | 1 | Jun 7, 2013 |
| CD63 | 2 | Mar 18, 2014 |
| CDH9 | 1 | Jun 7, 2013 |
| CDKL3 | 1 | Mar 26, 2013 |
| CEBPZ | 1 | Jun 7, 2013 |
| CENATAC | 1 | Jun 7, 2013 |
| CEP290 | 2 | Mar 18, 2014 |
| CGNL1 | 2 | Mar 18, 2014 |
| CHD7 | 1 | Mar 26, 2013 |
| CHSY1 | 1 | Jun 7, 2013 |
| CHUK | 2 | Mar 18, 2014 |
| CLCN4 | 2 | Mar 18, 2014 |
| COBL | 1 | Jun 7, 2013 |
| CPAP | 3 | Mar 18, 2014 |
| CRHR2 | 1 | Jun 7, 2013 |
| CTNNB1 | 10 | Mar 18, 2014 |
| CUBN | 2 | Mar 18, 2014 |
| CUL3 | 13 | Jan 6, 2012 |
| CYP4F3 | 2 | Mar 18, 2014 |
| CYP7A1 | 1 | Jun 7, 2013 |
| DCHS2 | 1 | Jun 7, 2013 |
| DCLRE1C | 2 | Mar 18, 2014 |
| DCST1-AS1 | 2 | Mar 18, 2014 |
| DGKD | 1 | Jun 7, 2013 |
| DGKE | 7 | Feb 27, 2013 |
| DKC1 | 2 | Mar 18, 2014 |
| DLG5 | 1 | Jun 7, 2013 |
| DMBT1 | 2 | Mar 18, 2014 |
| DNAH11 | 2 | Mar 18, 2014 |
| DPCD | 1 | Jun 7, 2013 |
| EBF3 | 2 | Mar 18, 2014 |
| EDARADD | 2 | Mar 18, 2014 |
| ERBB4 | 2 | Mar 18, 2014 |
| FAM114A1 | 1 | Jun 7, 2013 |
| FAM53C | 1 | Jun 7, 2013 |
| FAS | 2 | Mar 18, 2014 |
| FGFR4 | 2 | Mar 18, 2014 |
| FLNB | 2 | Mar 18, 2014 |
| FLNB-AS1 | 2 | Mar 18, 2014 |
| FXYD5 | 1 | Jun 7, 2013 |
| FZD4 | 1 | Jun 7, 2013 |
| GABRE | 2 | Mar 18, 2014 |
| GABRG3 | 2 | Mar 18, 2014 |
| GATAD1 | 2 | Mar 18, 2014 |
| GBP2 | 1 | Jun 7, 2013 |
| GBP5 | 1 | Jun 7, 2013 |
| GCKR | 1 | Jun 7, 2013 |
| GCLM | 1 | Jun 7, 2013 |
| GMPR2 | 1 | Jun 7, 2013 |
| GNA11 | 1 | Jun 7, 2013 |
| GORAB | 3 | Mar 18, 2014 |
| GPR101 | 1 | Jun 7, 2013 |
| GPX5 | 1 | Jun 7, 2013 |
| GRN | 1 | Jun 7, 2013 |
| GUCY1A1 | 1 | Jun 7, 2013 |
| HAS3 | 1 | Jun 7, 2013 |
| HCN1 | 1 | Jun 7, 2013 |
| HMCN1 | 4 | Mar 18, 2014 |
| HNRNPM | 2 | Mar 18, 2014 |
| HYDIN | 2 | Mar 18, 2014 |
| ILK | 1 | Jun 7, 2013 |
| ITGA2B | 2 | Mar 18, 2014 |
| ITPRID1 | 1 | Jun 7, 2013 |
| ITSN2 | 2 | Mar 18, 2014 |
| KAT6B | 1 | Jun 7, 2013 |
| KCNJ5 | 3 | Jun 7, 2013 |
| KDM5A | 1 | Mar 26, 2013 |
| KDM5B | 1 | Mar 26, 2013 |
| KDM5C | 1 | Jun 7, 2013 |
| KIF13A | 2 | Mar 18, 2014 |
| KIRREL2 | 1 | Jun 7, 2013 |
| KLHL3 | 26 | Jan 6, 2012 |
| KMT2D | 1 | Mar 26, 2013 |
| KRT39 | 2 | Mar 18, 2014 |
| KRT82 | 2 | Mar 18, 2014 |
| L3MBTL3 | 1 | Jun 7, 2013 |
| LAMA1 | 1 | Jun 7, 2013 |
| LAMC1 | 2 | Mar 18, 2014 |
| LARS2 | 2 | Mar 18, 2014 |
| LARS2-AS1 | 2 | Mar 18, 2014 |
| LIN28B | 1 | Jun 7, 2013 |
| LMBR1 | 2 | Mar 18, 2014 |
| LOC101929710 | 2 | Mar 18, 2014 |
| LOC112441444 | 1 | Jun 7, 2013 |
| LOC126806658 | 10 | Mar 18, 2014 |
| LOC126861365 | 1 | Jun 7, 2013 |
| LOC126861896 | 2 | Mar 18, 2014 |
| LOC126862495 | 1 | Jun 7, 2013 |
| LOC129930446 | 2 | Mar 18, 2014 |
| LOC130002408 | 1 | Jun 7, 2013 |
| LOC130004559 | 1 | Jun 7, 2013 |
| LOXHD1 | 1 | Jun 7, 2013 |
| LRRFIP2 | 1 | Jun 7, 2013 |
| MADD | 1 | Jun 7, 2013 |
| MBD5 | 2 | Mar 18, 2014 |
| MCC | 1 | Jun 7, 2013 |
| MDN1 | 1 | Jun 7, 2013 |
| MECOM | 1 | Jun 7, 2013 |
| MEN1 | 2 | Mar 18, 2014 |
| METTL25 | 1 | Jun 7, 2013 |
| MMACHC | 2 | Mar 18, 2014 |
| MTFR1 | 1 | Jun 7, 2013 |
| MTMR8 | 1 | Jun 7, 2013 |
| MYCBP2 | 1 | Jun 7, 2013 |
| MYH4 | 1 | Jun 7, 2013 |
| MYH6 | 2 | Mar 18, 2014 |
| MYH8 | 2 | Mar 18, 2014 |
| MYHAS | 3 | Mar 18, 2014 |
| MYL11 | 1 | Jun 7, 2013 |
| MYO3A | 2 | Mar 18, 2014 |
| MYO5A | 2 | Mar 18, 2014 |
| MYOCD | 2 | Mar 18, 2014 |
| NAT10 | 1 | Jun 7, 2013 |
| NEO1 | 2 | Mar 18, 2014 |
| NHS | 2 | Mar 18, 2014 |
| NIBAN1 | 1 | Jun 7, 2013 |
| NLRC4 | 1 | Jul 29, 2014 |
| NPR2 | 1 | Jun 7, 2013 |
| NRCAM | 2 | Mar 18, 2014 |
| NTNG1 | 1 | Jun 7, 2013 |
| NUP133 | 2 | Mar 18, 2014 |
| OAT | 2 | Mar 18, 2014 |
| OR10K2 | 1 | Jun 7, 2013 |
| OR1J2 | 1 | Jun 7, 2013 |
| OR1N1 | 1 | Jun 7, 2013 |
| OR4D11 | 1 | Jun 7, 2013 |
| OR9I1 | 1 | Jun 7, 2013 |
| OR9Q1 | 1 | Jun 7, 2013 |
| PAPOLA | 2 | Mar 18, 2014 |
| PAQR3 | 1 | Jun 7, 2013 |
| PCDHA1 | 3 | Jun 7, 2013 |
| PCDHA10 | 1 | Jun 7, 2013 |
| PCDHA11 | 1 | Jun 7, 2013 |
| PCDHA12 | 1 | Jun 7, 2013 |
| PCDHA13 | 1 | Jun 7, 2013 |
| PCDHA2 | 3 | Jun 7, 2013 |
| PCDHA3 | 2 | Jun 7, 2013 |
| PCDHA4 | 1 | Jun 7, 2013 |
| PCDHA5 | 1 | Jun 7, 2013 |
| PCDHA6 | 1 | Jun 7, 2013 |
| PCDHA7 | 1 | Jun 7, 2013 |
| PCDHA8 | 1 | Jun 7, 2013 |
| PCDHA9 | 1 | Jun 7, 2013 |
| PCDHA@ | 3 | Jun 7, 2013 |
| PCDHAC1 | 1 | Jun 7, 2013 |
| PCDHG@ | 1 | Jun 7, 2013 |
| PCDHGA1 | 1 | Jun 7, 2013 |
| PCDHGA10 | 1 | Jun 7, 2013 |
| PCDHGA11 | 1 | Jun 7, 2013 |
| PCDHGA12 | 1 | Jun 7, 2013 |
| PCDHGA2 | 1 | Jun 7, 2013 |
| PCDHGA3 | 1 | Jun 7, 2013 |
| PCDHGA4 | 1 | Jun 7, 2013 |
| PCDHGA5 | 1 | Jun 7, 2013 |
| PCDHGA6 | 1 | Jun 7, 2013 |
| PCDHGA7 | 1 | Jun 7, 2013 |
| PCDHGA8 | 1 | Jun 7, 2013 |
| PCDHGA9 | 1 | Jun 7, 2013 |
| PCDHGB1 | 1 | Jun 7, 2013 |
| PCDHGB2 | 1 | Jun 7, 2013 |
| PCDHGB3 | 1 | Jun 7, 2013 |
| PCDHGB4 | 1 | Jun 7, 2013 |
| PCDHGB5 | 1 | Jun 7, 2013 |
| PCDHGB6 | 1 | Jun 7, 2013 |
| PCDHGB7 | 1 | Jun 7, 2013 |
| PCDHGC3 | 1 | Jun 7, 2013 |
| PCDHGC4 | 1 | Jun 7, 2013 |
| PCNT | 2 | Mar 18, 2014 |
| PCSK1 | 2 | Mar 18, 2014 |
| PDE9A | 1 | Jun 7, 2013 |
| PDLIM3 | 2 | Mar 18, 2014 |
| PEX1 | 2 | Mar 18, 2014 |
| PEX3 | 2 | Mar 18, 2014 |
| PFKM | 1 | Jun 7, 2013 |
| PHF8 | 1 | Jun 7, 2013 |
| PHKA1 | 1 | Jun 7, 2013 |
| PKP1 | 2 | Mar 18, 2014 |
| PLD2 | 1 | Jun 7, 2013 |
| POLR1C | 1 | Jun 7, 2013 |
| PRKACA | 1 | Mar 18, 2014 |
| PROKR2 | 2 | Mar 18, 2014 |
| PRPF38B | 1 | Jun 7, 2013 |
| PRSS23 | 1 | Jun 7, 2013 |
| PTCHD1 | 2 | Mar 18, 2014 |
| PTPRZ1 | 2 | Mar 18, 2014 |
| PTX3 | 1 | Jun 7, 2013 |
| RAE1 | 1 | Jun 7, 2013 |
| RB1 | 4 | Mar 18, 2014 |
| RELCH | 1 | Jun 7, 2013 |
| RFT1 | 2 | Mar 18, 2014 |
| RFX4 | 1 | Jun 7, 2013 |
| RFX4-AS1 | 1 | Jun 7, 2013 |
| RNF113A | 1 | Jun 7, 2013 |
| RNF17 | 2 | Mar 18, 2014 |
| RNF20 | 1 | Mar 26, 2013 |
| RORC | 1 | Jun 7, 2013 |
| RPGRIP1 | 2 | Mar 18, 2014 |
| RUSF1 | 1 | Jun 7, 2013 |
| SCAF4 | 1 | Jun 7, 2013 |
| SEMA5A | 1 | Jun 7, 2013 |
| SET | 2 | Mar 18, 2014 |
| SH3KBP1 | 2 | Mar 18, 2014 |
| SIPA1L3 | 1 | Jun 7, 2013 |
| SLC20A2 | 2 | Mar 18, 2014 |
| SLC25A12 | 2 | Mar 18, 2014 |
| SLC2A9 | 1 | Jun 7, 2013 |
| SLC40A1 | 2 | Mar 18, 2014 |
| SLC6A19 | 2 | Mar 18, 2014 |
| SMAD2 | 2 | Mar 26, 2013 |
| SMC4 | 1 | Jun 7, 2013 |
| SNCA | 1 | Jun 7, 2013 |
| SP140 | 1 | Jun 7, 2013 |
| SPAG8 | 2 | Jun 7, 2013 |
| SPANXN4 | 2 | Mar 18, 2014 |
| SRC | 2 | Mar 18, 2014 |
| ST3GAL2 | 1 | Jun 7, 2013 |
| ST3GAL5 | 2 | Mar 18, 2014 |
| STAT2 | 1 | Jun 7, 2013 |
| STAT6 | 2 | Mar 18, 2014 |
| SYN3 | 2 | Mar 18, 2014 |
| SYNJ1 | 1 | Jun 7, 2013 |
| TAF10 | 1 | Jun 7, 2013 |
| TAF7L | 2 | Mar 18, 2014 |
| TBC1D8B | 2 | Mar 18, 2014 |
| TBCEL-TECTA | 1 | Jun 7, 2013 |
| TDRD5 | 1 | Jun 7, 2013 |
| TECTA | 1 | Jun 7, 2013 |
| TERT | 2 | Mar 18, 2014 |
| THOC2 | 2 | Mar 18, 2014 |
| TINF2 | 1 | Jun 7, 2013 |
| TK1 | 1 | Jun 7, 2013 |
| TMEM132D | 1 | Jun 7, 2013 |
| TNFRSF10A | 2 | Mar 18, 2014 |
| TNFRSF14 | 1 | Jun 7, 2013 |
| TNNT2 | 1 | Jun 7, 2013 |
| TOM1L2 | 1 | Jun 7, 2013 |
| TP53 | 6 | Mar 18, 2014 |
| TRAPPC10 | 1 | Jun 7, 2013 |
| TRIM59-IFT80 | 1 | Jun 7, 2013 |
| TRIM8 | 1 | Jun 7, 2013 |
| TRPM6 | 3 | Mar 18, 2014 |
| TTC21B | 2 | Mar 18, 2014 |
| UBE2B | 1 | Mar 26, 2013 |
| UBTF | 2 | Mar 18, 2014 |
| UPF3B | 2 | Mar 18, 2014 |
| USH1C | 1 | Jun 7, 2013 |
| USP44 | 1 | Mar 26, 2013 |
| VEPH1 | 1 | Jun 7, 2013 |
| VIT | 1 | Jun 7, 2013 |
| WDR44 | 2 | Mar 18, 2014 |
| WDR5 | 1 | Mar 26, 2013 |
| WDR6 | 2 | Mar 18, 2014 |
| WRAP53 | 2 | Mar 18, 2014 |
| WWC1 | 1 | Jun 7, 2013 |
| XIRP1 | 1 | Jun 7, 2013 |
| XPNPEP2 | 1 | Jun 7, 2013 |
| YY1 | 1 | Jun 7, 2013 |
| ZFP37 | 1 | Jun 7, 2013 |
| ZHX3 | 1 | Jun 7, 2013 |
| ZNF112 | 1 | Jun 7, 2013 |
| ZNF219 | 1 | Jun 7, 2013 |
| ZNF541 | 1 | Jun 7, 2013 |
| ZNF606 | 1 | Jun 7, 2013 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Atypical hemolytic-uremic syndrome | 7 | Feb 27, 2013 |
| Primary aldosteronism | 1 | Mar 27, 2015 |
| Pseudohypoaldosteronism type 2A | 39 | Jan 6, 2012 |
| Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) | 1 | Jul 29, 2014 |
| not provided | 352 | Mar 18, 2014 |
