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 |
CENPJ | 3 | Mar 18, 2014 |
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 |
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 |
LOC100287944 | 1 | Jun 7, 2013 |
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 |
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 |