Medical Cytogenetics and Molecular Genetics Laboratory (IRCCS Istituto Auxologico Italiano), CYTOMOL-IAI

General information

Medical Cytogenetics and Molecular Genetics Laboratory, CYTOMOL-IAI
IRCCS Istituto Auxologico Italiano
Cusano Milanino, Milano
Lombardia
Italy

Organization ID: 506607

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 166

Gene

GeneSubmissionsLast Updated
ABHD21Jul 20, 2018
ACKR31Jun 11, 2020
ADAMTS11Jun 11, 2020
ADAMTS51Jun 11, 2020
ADAMTS61Jun 11, 2020
ADARB21Jul 20, 2018
AFF21Jun 11, 2020
AFP1Jun 11, 2020
AHCTF11Jul 20, 2018
AMELX1Jul 20, 2018
AMFR1Jul 20, 2018
AOPEP1Jun 11, 2020
APC1Jul 20, 2018
ARHGAP61Jul 20, 2018
ARNTL1Jun 11, 2020
ARRDC11Mar 27, 2019
ARSA1Jul 20, 2018
ASMTL1Jul 20, 2018
ATG2A1Jun 11, 2020
ATG71Jun 11, 2020
ATG9B1Jun 11, 2020
ATP10B1Jul 20, 2018
BCAP291Jul 20, 2018
BMP151Jul 20, 2018
BMP41Jul 20, 2018
BMP61Jun 11, 2020
BNC11Jun 11, 2020
BRD31Jun 11, 2020
BRDT1Jun 11, 2020
BRWD11Jun 11, 2020
CACNA1B1Mar 27, 2019
CAPZA11Jul 20, 2018
CCDC1481Jul 20, 2018
CCSER11Jul 20, 2018
CD1E1Jul 20, 2018
CDK131Jul 20, 2018
CHEK21Jun 11, 2020
CNTLN2Jul 20, 2018
CPEB11Jul 20, 2018
CYP17A11Jun 11, 2020
CYP19A11Jun 11, 2020
CYP2E15Jul 20, 2018
DDX11Jul 20, 2018
DENND6A1Jul 20, 2018
DIAPH21Jul 20, 2018
DLC11Jul 20, 2018
DMRT31Jun 11, 2020
DPPA21Jun 11, 2020
DUSP191Jul 20, 2018
DUSP228Jul 20, 2018
EHMT11Mar 27, 2019
ERI11Jul 20, 2018
FAM120B1Jul 20, 2018
FANCA1Jun 11, 2020
FANCC1Jun 11, 2020
FHIT1Jul 20, 2018
FYN1Jun 11, 2020
FZD61Jul 20, 2018
GABRB21Jul 20, 2018
GADL11Jul 20, 2018
GALT1Jun 11, 2020
GLI11Jun 11, 2020
GPBP1L11Jul 20, 2018
GPR37L11Jul 20, 2018
GXYLT11Jul 20, 2018
IGF2R1Jun 11, 2020
IL1RAPL21Mar 27, 2019
INSL61Jun 11, 2020
IPP1Jul 20, 2018
JAK21Jun 11, 2020
KDR1Jun 11, 2020
KHDRBS11Jun 11, 2020
LARS21Jun 11, 2020
LEPR1Jun 11, 2020
LINC014701Jul 20, 2018
LINC023311Jul 20, 2018
LINC028971Jul 20, 2018
LRIG21Jul 20, 2018
LRRC412Jun 11, 2020
MAST21Jul 20, 2018
MECOM1Jun 11, 2020
MGLL1Jul 20, 2018
MIR4500HG1Jul 20, 2018
MIR4713HG1Jun 11, 2020
MLH31Jun 11, 2020
MOV102Jun 11, 2020
MSL31Jul 20, 2018
MYC1Jun 11, 2020
MYCN1Jul 20, 2018
MYCNOS1Jul 20, 2018
NAIP5Jul 20, 2018
NBAS1Jul 20, 2018
NCAM21Jul 20, 2018
NCKAP51Jul 20, 2018
NKX2-61Jul 20, 2018
NKX3-11Jul 20, 2018
NOBOX1Jun 11, 2020
NOS32Jun 11, 2020
NOTCH21Jun 11, 2020
NR5A21Jun 11, 2020
NTRK11Jun 11, 2020
NUP351Jul 20, 2018
OR51B51Jul 20, 2018
OR51I11Jul 20, 2018
OR51I21Jul 20, 2018
P2RY81Jul 20, 2018
PARD31Jun 11, 2020
PCSK51Jul 20, 2018
PIRC661Jun 11, 2020
PMM21Jun 11, 2020
PNPLA41Jul 20, 2018
POLG1Jun 11, 2020
POR1Jun 11, 2020
PPM1J1Jul 20, 2018
PRIM11Jun 11, 2020
PRKAA11Jul 20, 2018
PRLR1Jun 11, 2020
PSMB11Jul 20, 2018
PTCHD11Jul 20, 2018
PUDP1Jul 20, 2018
RAD51C1Jun 11, 2020
RAD54L3Jun 11, 2020
REC81Jun 11, 2020
RHCE1Mar 27, 2019
RHD1Mar 27, 2019
RHOC1Jul 20, 2018
RICTOR1Jun 11, 2020
RREB11Jul 20, 2018
RSRP11Mar 27, 2019
RYR34Jun 11, 2020
SETD52Mar 3, 2020
SH2B11Jun 11, 2020
SHANK31Jul 20, 2018
SIRT61Jun 11, 2020
SLC16A11Jul 20, 2018
SLC5A51Jul 20, 2018
SLMAP1Jul 20, 2018
SMYD31Jul 20, 2018
STAG31Jun 11, 2020
STS1Jul 20, 2018
SYCE15Jul 20, 2018
SYF21Mar 27, 2019
TAFA31Jul 20, 2018
TBP1Jul 20, 2018
THBS11Jun 11, 2020
TMEM50A1Mar 27, 2019
TMEM691Jul 20, 2018
TP632Jul 20, 2018
TSHZ21Jul 20, 2018
VCX1Jul 20, 2018
VLDLR1Jul 20, 2018
WDR371Jul 20, 2018
WHAMM1Jun 11, 2020
WT11Jun 11, 2020
XPNPEP21Jun 11, 2020
XPO11Jul 20, 2018
YAF21Jul 20, 2018
ZNF1241Jul 20, 2018
ZNF2171Jul 20, 2018
ZNF4621Jun 11, 2020
ZNF6691Jul 20, 2018
ZNF6701Jul 20, 2018
ZNF6751Jul 20, 2018
ZNF6811Jul 20, 2018
ZNF6951Jul 20, 2018

Condition

NameSubmissionsLast Updated
1q24q25 microdeletion syndrome1Dec 17, 2018
9q34 microduplication syndrome3Mar 27, 2019
Chromosome 13q14 deletion syndrome1Jun 1, 2018
Chromosome 17p13.3, centromeric, duplication syndrome1Dec 17, 2018
Chromosome 22q11.2 deletion syndrome, distal1Dec 17, 2018
Chromosome 3pter-p25 deletion syndrome1Mar 3, 2020
Mental retardation, autosomal dominant 232Mar 3, 2020
Mulibrey nanism syndrome1Dec 17, 2018
Premature ovarian failure64Jun 11, 2020
Primary amenorrhea88Jul 20, 2018
Silver Russell Syndrome-related disorder3Dec 17, 2018
Support Center