ClinVar Miner

Variants from Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

Location: France  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 total
331 238 254 11 0 834

Gene and significance breakdown #

Total genes and gene combinations: 423
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
SRRM2 19 0 0 0 19
CAMK2A 8 2 1 0 11
BAP1 10 0 0 0 10
ANKRD11 5 4 0 0 9
DDX3X 5 2 2 0 9
MED13L 8 0 1 0 9
ACSM3, THUMPD1 7 1 0 0 8
CAMK2B 5 2 1 0 8
CAMK2D 8 0 0 0 8
SCN8A 2 3 3 0 8
ACTB 1 5 1 0 7
CHD8 5 2 0 0 7
EHMT1 1 1 5 0 7
CSNK2A1 3 0 3 0 6
KMT2A 2 3 1 0 6
MECP2 5 1 0 0 6
MYT1L 2 3 1 0 6
POGZ 3 1 2 0 6
SETD5 4 1 1 0 6
WNK3 6 0 0 0 6
ZEB2 3 2 0 1 6
ARID1B 1 3 1 0 5
ASH1L 3 1 1 0 5
CC2D2A 4 0 1 0 5
CHD2 3 2 0 0 5
CREBBP 3 1 1 0 5
DNMT3A 3 1 1 0 5
GRIN2B 1 3 1 0 5
KDM6A 3 1 1 0 5
KMT2D 3 0 2 0 5
NAA15 1 3 1 0 5
SCN2A 1 1 3 0 5
SLC6A1 2 2 1 0 5
SYNGAP1 3 1 1 0 5
USP9X 1 1 2 1 5
ASXL3 3 0 1 0 4
CASK 3 0 1 0 4
DIP2C 0 0 4 0 4
GRIN2A 0 2 2 0 4
KMT2C 2 0 1 1 4
SETD1B 1 2 1 0 4
SHANK3 3 1 0 0 4
SMARCA4 1 0 2 1 4
SMARCB1 1 1 2 0 4
SPTAN1 0 1 3 0 4
SPTBN1 0 2 2 0 4
STAG1 1 2 1 0 4
TAOK1 2 1 1 0 4
TRIO 3 0 1 0 4
ZBTB20 0 2 1 1 4
ZMYM2 1 3 0 0 4
ADNP 2 1 0 0 3
AP4S1 2 1 0 0 3
ARID2 2 1 0 0 3
ASL 1 2 0 0 3
ATP2B1 0 1 2 0 3
CHD4 1 0 2 0 3
CHD7 1 0 2 0 3
CLCN4 0 0 3 0 3
CTNNB1, LOC126806659 2 0 1 0 3
CUL3 0 3 0 0 3
CUX1 2 1 0 0 3
DYNC1H1 0 2 1 0 3
DYRK1A 1 0 2 0 3
EBF3 1 1 1 0 3
EP300 1 0 2 0 3
FOXG1 3 0 0 0 3
GNB1 2 1 0 0 3
HUWE1 0 1 2 0 3
IGF1R 0 2 1 0 3
IQSEC2 0 1 1 1 3
ITPR1 2 1 0 0 3
KAT6A 2 1 0 0 3
KCNA2 2 1 0 0 3
NSD1 2 1 0 0 3
RERE 0 2 1 0 3
SATB2 1 2 0 0 3
SETD2 1 0 2 0 3
SLC6A8 1 1 1 0 3
TLK2 0 2 1 0 3
TRIP12 1 1 1 0 3
TUBB2A 0 2 1 0 3
WAC 1 1 1 0 3
AARS1 0 2 0 0 2
AFG2A 1 1 0 0 2
AGRN 1 1 0 0 2
AHDC1 2 0 0 0 2
ALG13 1 0 1 0 2
ALPK3 2 0 0 0 2
ARSA 1 1 0 0 2
ATRIP, ATRIP-TREX1, TREX1 1 1 0 0 2
ATRX 0 1 1 0 2
BCS1L 1 1 0 0 2
BPTF 0 1 1 0 2
BRPF1 0 1 1 0 2
CAMTA1 0 2 0 0 2
CDK13 1 1 0 0 2
CENPF 0 0 2 0 2
CIC 0 0 2 0 2
CLN6 0 2 0 0 2
CLPB 0 0 2 0 2
COG4 0 1 1 0 2
CSNK2B 2 0 0 0 2
CTSF 0 2 0 0 2
DCX 1 0 1 0 2
DEAF1 0 1 1 0 2
EFTUD2 1 1 0 0 2
EP400 0 0 2 0 2
FBXL4 1 1 0 0 2
FBXO11 0 1 1 0 2
FBXW7 0 2 0 0 2
FCSK 0 0 2 0 2
FOXP1 0 2 0 0 2
GBA2 0 2 0 0 2
H1-4 1 1 0 0 2
HERC1 0 0 2 0 2
IGHMBP2 1 1 0 0 2
JARID2 1 1 0 0 2
KAT6B 2 0 0 0 2
KCNH1 1 1 0 0 2
KCNQ2 1 1 0 0 2
KDM3B 1 0 1 0 2
KDM5C 1 0 1 0 2
KIAA0586 2 0 0 0 2
KMT2E 0 1 1 0 2
KMT5B 0 1 1 0 2
LMBRD2 0 2 0 0 2
LONP1 0 1 1 0 2
MAGEL2 1 0 1 0 2
MAN1B1 1 1 0 0 2
MED13 0 1 1 0 2
MED25 0 1 1 0 2
MEF2C 2 0 0 0 2
MICU1 2 0 0 0 2
NAA10 1 0 1 0 2
NBAS 1 0 1 0 2
NBEA 0 0 2 0 2
NEXMIF 2 0 0 0 2
NFIA 0 2 0 0 2
NFIB 0 0 2 0 2
NIPBL 0 1 1 0 2
NRAS 0 0 1 1 2
PACS1 1 0 1 0 2
PAK3 1 1 0 0 2
PEX6 2 0 0 0 2
PEX7 2 0 0 0 2
PGAP1 0 0 2 0 2
POMGNT1, TSPAN1 1 1 0 0 2
PPP2R1A 0 2 0 0 2
PQBP1 1 0 1 0 2
PSMD12 1 0 1 0 2
PTCHD1 0 0 2 0 2
PTPN11 2 0 0 0 2
RAI1 0 1 1 0 2
RFX3 0 1 1 0 2
RORA 0 2 0 0 2
SATB1 0 1 1 0 2
SETBP1 0 1 0 1 2
SGSH 0 0 2 0 2
SHMT2 0 2 0 0 2
SMARCC2 0 1 1 0 2
SNX14 0 1 1 0 2
SOX6 0 2 0 0 2
STAG2 0 1 1 0 2
STX1B 1 0 1 0 2
STXBP1 1 1 0 0 2
SYT1 0 1 1 0 2
TARS2 0 0 2 0 2
TBL1XR1 0 2 0 0 2
TBR1 0 1 1 0 2
THRA 0 1 1 0 2
TRAPPC9 0 0 2 0 2
TRRAP 0 0 2 0 2
TUBB 0 2 0 0 2
UPF3B 0 1 1 0 2
WDFY3 0 0 2 0 2
YY1 0 1 1 0 2
ZNF292 2 0 0 0 2
ZNF335 1 0 1 0 2
AAAS 1 0 0 0 1
ABHD16A 0 0 1 0 1
ACSM3, LOC130058602, THUMPD1 0 0 1 0 1
ACTG1 0 0 0 1 1
ADGRL1 0 0 1 0 1
AFF2 0 0 1 0 1
AGA 0 0 1 0 1
AGO2 0 1 0 0 1
AP1G1 0 1 0 0 1
AP2M1 0 0 1 0 1
AP2S1 0 1 0 0 1
ARHGEF9 0 0 1 0 1
ARID1A 0 0 1 0 1
ASNS, CZ1P-ASNS 0 1 0 0 1
ASXL2 0 0 1 0 1
ATP2B3 0 0 1 0 1
ATP6V1B2 0 0 1 0 1
ATXN7L3, LOC121587595, UBTF 0 0 1 0 1
AUTS2 1 0 0 0 1
AVPR2 1 0 0 0 1
BCL11B 1 0 0 0 1
BCOR 0 1 0 0 1
BCORL1 0 0 1 0 1
BRAF 1 0 0 0 1
BRD4 0 0 1 0 1
BRWD3 0 1 0 0 1
CACNA1A, LOC130063717 0 0 1 0 1
CACNA1F 1 0 0 0 1
CACNG2 0 0 1 0 1
CAMK2G 0 0 1 0 1
CASR 0 1 0 0 1
CBL 1 0 0 0 1
CCDC22 0 0 1 0 1
CDC42 1 0 0 0 1
CDK10 1 0 0 0 1
CDK19 0 0 1 0 1
CDKL5 1 0 0 0 1
CDKL5, RS1 0 0 1 0 1
CEP85L 1 0 0 0 1
CHAMP1 0 1 0 0 1
CHD1 0 0 1 0 1
CHD3 0 0 1 0 1
CHD5 0 1 0 0 1
CHRNA7 0 0 1 0 1
CIC, LOC130064572 1 0 0 0 1
CLTC 0 1 0 0 1
CNKSR2 0 1 0 0 1
CNOT1 0 0 1 0 1
CNOT2 0 1 0 0 1
CNOT3 1 0 0 0 1
CNTNAP1 1 0 0 0 1
COL11A1 0 1 0 0 1
COL12A1 0 1 0 0 1
CTNNB1 1 0 0 0 1
CTNND2 0 0 1 0 1
CUL4B 0 1 0 0 1
DIS3L2 0 0 1 0 1
DLG3 0 0 1 0 1
DLG4, LOC126862479 0 1 0 0 1
DNM1 1 0 0 0 1
DNM2 1 0 0 0 1
DSCAM 0 0 1 0 1
EEF1A2 0 0 1 0 1
EIF3F 1 0 0 0 1
EIF5A 0 1 0 0 1
ERF 0 1 0 0 1
EZH2 0 1 0 0 1
FGD1 0 1 0 0 1
FGF12 1 0 0 0 1
FGF13 0 0 1 0 1
FKBP14 1 0 0 0 1
FLNA 1 0 0 0 1
FOSL2 0 1 0 0 1
FOXP3 1 0 0 0 1
FRMPD4 0 0 1 0 1
FTSJ1 0 0 1 0 1
FUCA1 0 0 1 0 1
GABBR2 0 0 1 0 1
GAMT 1 0 0 0 1
GATA3 0 0 1 0 1
GATAD2B 1 0 0 0 1
GDI1 0 0 0 1 1
GFER 0 1 0 0 1
GNAI1 0 0 1 0 1
GPT2 0 1 0 0 1
GRIA1 0 0 1 0 1
GRIA2 0 0 1 0 1
GRIA3 0 1 0 0 1
GRIN1 1 0 0 0 1
GRIPAP1 0 0 1 0 1
HCCS 0 0 1 0 1
HDAC8 0 1 0 0 1
HK1 0 0 1 0 1
HNRNPU 0 1 0 0 1
IFT172 0 0 1 0 1
IGF1R, IRAIN 0 1 0 0 1
IRAK1BP1, PHIP 0 0 1 0 1
JAG1 1 0 0 0 1
JMJD1C 0 0 1 0 1
KAT5, RNASEH2C 0 0 1 0 1
KCNB1 1 0 0 0 1
KCNC1 1 0 0 0 1
KCNC3 1 0 0 0 1
KCNK9 0 0 1 0 1
KCNMA1 0 0 1 0 1
KCNQ3 0 0 0 1 1
KCNT1 0 0 1 0 1
KDM4B 0 1 0 0 1
KIF11 0 1 0 0 1
KIRREL3 0 0 1 0 1
KLHL20 0 1 0 0 1
KMT2A, TTC36 0 1 0 0 1
LAS1L 0 0 1 0 1
LMAN2L 0 0 1 0 1
LMNB2 0 0 1 0 1
LMNB2, LOC130063065 0 0 1 0 1
LMX1B 0 1 0 0 1
LOC102724058, SCN1A 0 1 0 0 1
LOC114803470, SCN8A 0 0 1 0 1
LOC126806490, UNC80 0 1 0 0 1
LOC126862481, POLR2A 0 0 1 0 1
LOC126862611, TLK2 1 0 0 0 1
LOC126862757, TCF4 1 0 0 0 1
LOC126862785, RTTN 1 0 0 0 1
LOC129937769, MED12L, P2RY12 0 0 1 0 1
LOC129995144, THG1L 0 1 0 0 1
LOC130009585, UFM1 1 0 0 0 1
LOC130060218, VAMP2 0 0 1 0 1
LOC130068746, SLC9A6 0 0 1 0 1
LONP2, SIAH1 0 1 0 0 1
MAGT1 1 0 0 0 1
MAOA 0 0 1 0 1
MAPK8IP3 0 0 1 0 1
MED14 0 0 1 0 1
MED23 0 1 0 0 1
MEIS2 1 0 0 0 1
MIR6857, SMC1A 1 0 0 0 1
MORC2 1 0 0 0 1
MRPS22 0 1 0 0 1
MTM1 1 0 0 0 1
MTOR 0 0 1 0 1
MYRF 0 1 0 0 1
NACC1 0 0 1 0 1
NALCN 1 0 0 0 1
NARS2 0 1 0 0 1
NDUFB11 0 1 0 0 1
NF1 1 0 0 0 1
NFIX 0 1 0 0 1
NONO 0 0 1 0 1
NR2F2 0 0 1 0 1
NT5C2 1 0 0 0 1
NTRK1 0 1 0 0 1
NTRK2 1 0 0 0 1
OPA1 1 0 0 0 1
OTC 0 1 0 0 1
OTUD6B 1 0 0 0 1
PACS2 1 0 0 0 1
PAK1 0 0 1 0 1
PBX1 0 1 0 0 1
PCBP1 0 0 1 0 1
PGAP2 0 1 0 0 1
PHF2 0 0 1 0 1
PHF3 0 0 1 0 1
PHF6 0 0 1 0 1
PIK3R2 1 0 0 0 1
PKD1 1 0 0 0 1
POLR2A 0 0 1 0 1
PORCN 0 1 0 0 1
PPP2R5D 1 0 0 0 1
PRKACA 0 0 1 0 1
PTEN 1 0 0 0 1
PTPN23 0 0 1 0 1
PUF60 1 0 0 0 1
PUM1 0 0 1 0 1
PURA 0 0 1 0 1
PYCR2 1 0 0 0 1
RAB39B 0 1 0 0 1
RAD21 1 0 0 0 1
RASA2 0 0 1 0 1
RLIM 0 1 0 0 1
RNASEH2B 1 0 0 0 1
RNF170 1 0 0 0 1
RPE65 1 0 0 0 1
RTTN 0 1 0 0 1
RYR1 1 0 0 0 1
SCAF4 0 0 1 0 1
SERPINA1 1 0 0 0 1
SET 0 1 0 0 1
SETD1A 0 0 1 0 1
SF1 0 1 0 0 1
SHOC2 1 0 0 0 1
SIN3A 0 1 0 0 1
SKI 0 0 1 0 1
SLC16A2 0 1 0 0 1
SLC6A5 0 1 0 0 1
SMAD4 1 0 0 0 1
SMARCA2 1 0 0 0 1
SMARCD1 0 0 1 0 1
SMC1A 1 0 0 0 1
SMC3 0 0 1 0 1
SNHG14, UBE3A 1 0 0 0 1
SON 1 0 0 0 1
SOX4 0 0 1 0 1
SOX5 0 1 0 0 1
SPAST 0 0 1 0 1
SRPK3 0 0 1 0 1
SSBP3 0 0 1 0 1
SUFU 0 1 0 0 1
SUPT16H 0 0 1 0 1
SUZ12 1 0 0 0 1
TAF1 0 0 1 0 1
TAOK3 0 0 1 0 1
TCF20 1 0 0 0 1
TCF4 1 0 0 0 1
TET3 0 0 1 0 1
TFE3 1 0 0 0 1
THG1L 1 0 0 0 1
THOC2 0 0 1 0 1
THRB 0 1 0 0 1
TMEM240 1 0 0 0 1
TMEM70 1 0 0 0 1
TNPO2 0 1 0 0 1
TOP2B 0 0 1 0 1
TPO 1 0 0 0 1
TPP1 0 1 0 0 1
TSC2 1 0 0 0 1
TUBA1A 1 0 0 0 1
TUBB2B 0 1 0 0 1
TUBB3 0 0 1 0 1
TUBB4A 1 0 0 0 1
UBR4 0 0 1 0 1
USH2A 1 0 0 0 1
USP27X 0 1 0 0 1
USP7 1 0 0 0 1
VIM 0 1 0 0 1
WDR45 1 0 0 0 1
YWHAG 1 0 0 0 1
ZC4H2 0 1 0 0 1
ZDHHC9 0 0 1 0 1
ZMIZ1 0 0 1 0 1
ZMYND11 0 0 1 0 1
ZNF462 1 0 0 0 1
ZNF536 0 0 1 0 1
ZSWIM6 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Neurodevelopmental disorder 169 155 183 3 510
not provided 144 78 71 8 301
Intellectual disability 13 4 0 0 17
Dystonic disorder; Growth delay; Hypothyroidism; Intellectual disability; Infantile axial hypotonia; Upper limb hypertonia; Cleft palate 1 0 0 0 1
Lethal congenital contracture syndrome 7 1 0 0 0 1
See cases 1 0 0 0 1
Usher syndrome type 2A 1 0 0 0 1
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 1 0 0 0 1
syndrome with premature-aging 0 1 0 0 1

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