ClinVar Miner

Variants from Richard Lifton Laboratory, Yale University School of Medicine

Location: United States  Primary collection method: not provided
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
41 30 225 0 0 10 297

Gene and significance breakdown #

Total genes and gene combinations: 238
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
KLHL3 26 0 0 0 26
CUL3 13 0 0 0 13
DGKE 0 7 0 0 7
CTNNB1, LOC126806658 0 5 1 0 5
CACNA1D 0 3 0 0 3
KCNJ5 0 3 0 0 3
TP53 0 3 1 0 3
ABLIM3 0 0 2 0 2
GORAB 0 0 2 0 2
HMCN1 0 0 2 0 2
RB1 0 2 1 0 2
SMAD2 0 0 0 2 2
TRPM6 0 0 2 0 2
ABCC2 0 0 1 0 1
ABCC5 0 0 1 0 1
ABHD12 0 0 1 0 1
ABL2 0 0 1 0 1
ADAM15, ADAM15-EFNA4, DCST1 0 0 1 0 1
ADAMTS18 0 0 1 0 1
ADAMTS2 0 0 1 0 1
ADAP2 0 0 1 0 1
ADCY2 0 0 1 0 1
ADGRF4 0 0 1 0 1
ANKRD13D 0 0 1 0 1
AP4B1 0 0 1 0 1
APOB 0 0 1 0 1
ARHGAP6 0 0 1 0 1
ARHGAP9 0 0 1 0 1
ARHGEF18 0 0 1 0 1
ARHGEF9 0 0 1 0 1
ARMC12 0 0 1 0 1
ARRDC3 0 0 1 0 1
ATP13A2 0 0 1 0 1
ATP2A2 0 0 1 0 1
ATP6V1C2 0 0 1 0 1
ATP7B 0 0 1 0 1
ATRX 0 0 1 0 1
ATXN7L3, UBTF 0 1 1 0 1
BBS4 0 0 1 0 1
BBS7 0 0 1 0 1
BFSP2 0 0 1 0 1
C20orf141 0 0 1 0 1
CACNA1H 1 0 0 0 1
CAST, LOC101929710, PCSK1 0 0 1 0 1
CCDC15 0 0 1 0 1
CCDC59, METTL25 0 0 1 0 1
CCL23 0 0 1 0 1
CD63 0 0 1 0 1
CDH9 0 0 1 0 1
CDKL3, UBE2B 0 0 0 1 1
CEBPZ 0 0 1 0 1
CENATAC 0 0 1 0 1
CEP290 0 0 1 0 1
CGNL1 0 1 1 0 1
CHD7 0 0 0 1 1
CHSY1 0 0 1 0 1
CHUK 0 0 1 0 1
CLCN4 0 1 1 0 1
COBL 0 0 1 0 1
CPAP 0 0 1 0 1
CPAP, RNF17 0 0 1 0 1
CRHR2 0 0 1 0 1
CUBN 0 0 1 0 1
CYP4F3 0 0 1 0 1
CYP7A1 0 0 1 0 1
DCHS2 0 0 1 0 1
DCLRE1C 0 0 1 0 1
DGKD 0 0 1 0 1
DKC1 0 0 1 0 1
DLG5 0 0 1 0 1
DMBT1 0 0 1 0 1
DNAH11 0 0 1 0 1
DPCD, LOC130004559 0 0 1 0 1
EBF3 0 0 1 0 1
EDARADD 0 0 1 0 1
ERBB4 0 0 1 0 1
FAM114A1 0 0 1 0 1
FAM53C 0 0 1 0 1
FAS 0 0 1 0 1
FGFR4 0 0 1 0 1
FLNB 0 0 1 0 1
FXYD5 0 0 1 0 1
FZD4, PRSS23 0 0 1 0 1
GABRE 0 0 1 0 1
GABRG3 0 0 1 0 1
GATAD1, PEX1 0 0 1 0 1
GBP2 0 0 1 0 1
GBP5 0 0 1 0 1
GCKR 0 0 1 0 1
GCLM 0 0 1 0 1
GMPR2 0 0 1 0 1
GNA11 0 0 1 0 1
GPR101 0 0 1 0 1
GPX5 0 0 1 0 1
GRN 0 0 1 0 1
GUCY1A1 0 0 1 0 1
HAS3 0 0 1 0 1
HCN1 0 0 1 0 1
HNRNPM 0 0 1 0 1
HYDIN 0 0 1 0 1
ILK, TAF10 0 0 1 0 1
ITGA2B 0 0 1 0 1
ITPRID1 0 0 1 0 1
ITSN2 0 0 1 0 1
KAT6B 0 0 1 0 1
KDM5A 0 0 0 1 1
KDM5B 0 0 0 1 1
KDM5C 0 0 1 0 1
KIF13A 0 0 1 0 1
KIRREL2 0 0 1 0 1
KMT2D 0 0 0 1 1
KRT39 0 0 1 0 1
KRT82 0 0 1 0 1
L3MBTL3 0 0 1 0 1
LAMA1 0 0 1 0 1
LAMC1 0 0 1 0 1
LARS2 0 0 1 0 1
LIN28B 0 0 1 0 1
LMBR1 0 0 1 0 1
LOC112441444, MYL11 0 0 1 0 1
LOC126861365, TBCEL-TECTA, TECTA 0 0 1 0 1
LOC126861896, MYH6 0 0 1 0 1
LOC126862495, MYH4, MYHAS 0 0 1 0 1
LOC129930446, MMACHC 0 0 1 0 1
LOC130002408, ZFP37 0 0 1 0 1
LOXHD1 0 0 1 0 1
LRRFIP2 0 0 1 0 1
MADD 0 0 1 0 1
MBD5 0 0 1 0 1
MCC 0 0 1 0 1
MDN1 0 0 1 0 1
MECOM 0 0 1 0 1
MEN1 0 0 1 0 1
MTFR1 0 0 1 0 1
MTMR8 0 0 1 0 1
MYCBP2 0 0 1 0 1
MYH8, MYHAS 0 0 1 0 1
MYO3A 0 0 1 0 1
MYO5A 0 0 1 0 1
MYOCD 0 0 1 0 1
NAT10 0 0 1 0 1
NEO1 0 1 1 0 1
NHS 0 0 1 0 1
NIBAN1 0 0 1 0 1
NLRC4 1 0 0 0 1
NPR2, SPAG8 0 0 1 0 1
NRCAM 0 0 1 0 1
NTNG1 0 0 1 0 1
NUP133 0 0 1 0 1
OAT 0 0 1 0 1
OR10K2 0 0 1 0 1
OR1J2, OR1N1 0 0 1 0 1
OR4D11 0 0 1 0 1
OR9I1, OR9Q1 0 0 1 0 1
PAPOLA 0 1 1 0 1
PAQR3 0 0 1 0 1
PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1 0 0 1 0 1
PCDHA1, PCDHA2, PCDHA3, PCDHA@ 0 0 1 0 1
PCDHA1, PCDHA2, PCDHA@ 0 0 1 0 1
PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4 0 0 1 0 1
PCNT 0 0 1 0 1
PDE9A 0 0 1 0 1
PDLIM3 0 0 1 0 1
PEX3 0 0 1 0 1
PFKM 0 0 1 0 1
PHF8 0 0 1 0 1
PHKA1 0 0 1 0 1
PKP1 0 1 1 0 1
PLD2 0 0 1 0 1
POLR1C 0 0 1 0 1
PRKACA 0 1 0 0 1
PROKR2 0 0 1 0 1
PRPF38B 0 0 1 0 1
PTCHD1 0 0 1 0 1
PTPRZ1 0 0 1 0 1
PTX3, VEPH1 0 0 1 0 1
RAE1 0 0 1 0 1
RELCH 0 0 1 0 1
RFT1 0 0 1 0 1
RFX4 0 0 1 0 1
RNF113A 0 0 1 0 1
RNF20 0 0 0 1 1
RORC 0 0 1 0 1
RPGRIP1 0 0 1 0 1
RUSF1 0 0 1 0 1
SCAF4 0 0 1 0 1
SEMA5A 0 0 1 0 1
SET 0 0 1 0 1
SH3KBP1 0 0 1 0 1
SIPA1L3 0 0 1 0 1
SLC20A2 0 0 1 0 1
SLC25A12 0 0 1 0 1
SLC2A9 0 0 1 0 1
SLC40A1 0 0 1 0 1
SLC6A19 0 0 1 0 1
SMC4, TRIM59-IFT80 0 0 1 0 1
SNCA 0 0 1 0 1
SP140 0 0 1 0 1
SPAG8 0 0 1 0 1
SPANXN4 0 0 1 0 1
SRC 0 0 1 0 1
ST3GAL2 0 0 1 0 1
ST3GAL5 0 0 1 0 1
STAT2 0 0 1 0 1
STAT6 0 0 1 0 1
SYN3 0 0 1 0 1
SYNJ1 0 0 1 0 1
TAF7L 0 0 1 0 1
TBC1D8B 0 0 1 0 1
TDRD5 0 0 1 0 1
TERT 0 0 1 0 1
THOC2 0 0 1 0 1
TK1 0 0 1 0 1
TMEM132D 0 0 1 0 1
TNFRSF10A 0 0 1 0 1
TNFRSF14 0 0 1 0 1
TNNT2 0 0 1 0 1
TOM1L2 0 0 1 0 1
TRAPPC10 0 0 1 0 1
TRIM8 0 0 1 0 1
TTC21B 0 0 1 0 1
UPF3B 0 0 1 0 1
USH1C 0 0 1 0 1
USP44 0 0 0 1 1
VIT 0 0 1 0 1
WDR44 0 0 1 0 1
WDR5 0 0 0 1 1
WDR6 0 0 1 0 1
WRAP53 0 0 1 0 1
WWC1 0 0 1 0 1
XIRP1 0 0 1 0 1
XPNPEP2 0 0 1 0 1
YY1 0 0 1 0 1
ZHX3 0 0 1 0 1
ZNF112 0 0 1 0 1
ZNF219 0 0 1 0 1
ZNF541 0 0 1 0 1
ZNF606 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance not provided total
not provided 0 23 225 10 249
Pseudohypoaldosteronism type 2A 39 0 0 0 39
Atypical hemolytic-uremic syndrome 0 7 0 0 7
Primary aldosteronism 1 0 0 0 1
Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) 1 0 0 0 1

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