ClinVar Miner

Variants from Diagnostic Laboratory, Strasbourg University Hospital

Location: France  Primary collection method: clinical testing
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 total
272 212 243 18 1 746

Gene and significance breakdown #

Total genes and gene combinations: 257
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DYRK1A 22 2 1 1 1 27
ANKRD11 10 1 4 0 0 15
DDX3X 10 3 2 0 0 15
SCN2A 3 7 3 0 0 13
KCNQ2 3 6 3 0 0 12
SCN1A 4 3 5 0 0 12
GRIN2B 4 7 0 0 0 11
MED13L 7 3 1 0 0 11
SHANK3 9 1 1 0 0 11
CHD2 4 6 0 0 0 10
ARID1B 7 0 1 1 0 9
HUWE1 0 2 7 0 0 9
MECP2 5 2 0 2 0 9
POGZ 3 6 0 0 0 9
SMARCA2 1 5 3 0 0 9
DYNC1H1 1 1 6 0 0 8
GRIN1 1 4 3 0 0 8
KMT2A 5 2 1 0 0 8
MYT1L 4 3 1 0 0 8
SLITRK2 0 5 3 0 0 8
STXBP1 4 2 2 0 0 8
AGO1 0 7 0 0 0 7
CASK 0 3 4 0 0 7
DEPDC5 2 1 4 0 0 7
KDM5C 4 1 2 0 0 7
SYNGAP1 1 4 2 0 0 7
TRIO 0 2 5 0 0 7
ADNP 4 0 2 0 0 6
CREBBP 4 2 0 0 0 6
MBD5 3 0 3 0 0 6
SCN8A 1 0 5 0 0 6
ZBTB20 4 1 0 1 0 6
ZNF292 0 4 2 0 0 6
ARHGEF9 0 0 5 0 0 5
FOXP1 2 3 0 0 0 5
HCN1 0 0 5 0 0 5
KAT6A 4 0 1 0 0 5
KCNQ3 3 0 1 1 0 5
NEXMIF 2 2 1 0 0 5
SATB2 5 0 0 0 0 5
SNHG14, UBE3A 2 1 1 1 0 5
TBR1 2 1 2 0 0 5
AP4M1 4 0 0 0 0 4
ASXL3 2 0 2 0 0 4
EHMT1 3 0 1 0 0 4
FLNA 1 0 3 0 0 4
GABRB3 0 2 2 0 0 4
GABRG2 0 2 2 0 0 4
GRIA3 1 0 2 1 0 4
GRIN2A 0 3 1 0 0 4
IQSEC2 3 1 0 0 0 4
KANSL1 3 0 1 0 0 4
KAT6B 4 0 0 0 0 4
KCNB1 3 1 0 0 0 4
KMT2D 2 0 2 0 0 4
LOC102724058, SCN1A 1 0 3 0 0 4
NEDD4L 0 1 2 1 0 4
RAI1 3 1 0 0 0 4
SETD5 1 2 1 0 0 4
SLC6A1 1 3 0 0 0 4
TRIP12 1 2 1 0 0 4
ASNS, CZ1P-ASNS 0 3 0 0 0 3
AUTS2 0 1 2 0 0 3
BRPF1 2 0 1 0 0 3
CACNA1C 0 1 2 0 0 3
CHD8 3 0 0 0 0 3
CNKSR2 1 0 2 0 0 3
CNTNAP2 0 1 2 0 0 3
DCX 1 0 2 0 0 3
DNMT3A 0 2 1 0 0 3
EP300 2 0 1 0 0 3
FMR1 3 0 0 0 0 3
GABBR2 0 1 2 0 0 3
HDAC4 0 0 2 1 0 3
MED12 0 0 3 0 0 3
MEF2C 2 1 0 0 0 3
PAK3 0 0 3 0 0 3
PNKP 2 1 0 0 0 3
PTPN11 0 2 1 0 0 3
RPS6KA3 1 2 0 0 0 3
SETBP1 1 2 0 0 0 3
SLC9A6 1 0 1 1 0 3
SYN1 0 1 2 0 0 3
TAF1 0 2 1 0 0 3
TBL1XR1 0 3 0 0 0 3
TCF4 2 0 1 0 0 3
TSC2 0 0 3 0 0 3
USP9X 0 0 3 0 0 3
WDR45 1 1 1 0 0 3
ZDHHC9 0 2 1 0 0 3
ACTB 1 1 0 0 0 2
AGO1, LOC129930123 0 2 0 0 0 2
AHDC1 1 1 0 0 0 2
ALDH18A1 0 2 0 0 0 2
ALG13 1 0 1 0 0 2
AP4S1 2 0 0 0 0 2
ARX 0 0 2 0 0 2
ATRX 1 0 1 0 0 2
CAMK2B 0 1 0 1 0 2
CDKL5 1 0 1 0 0 2
CLCN4 0 0 2 0 0 2
COL4A1 1 1 0 0 0 2
CTCF 0 1 1 0 0 2
CTNNB1, LOC126806659 2 0 0 0 0 2
CUL3 0 0 2 0 0 2
CUL4B 1 0 1 0 0 2
DEAF1 0 0 1 1 0 2
DNAH1 2 0 0 0 0 2
DSCAM 0 0 2 0 0 2
EEF1A2 0 1 1 0 0 2
FOXG1 0 2 0 0 0 2
FTSJ1 1 0 1 0 0 2
GABRA1 0 2 0 0 0 2
GATAD2B 2 0 0 0 0 2
GPC3 0 0 2 0 0 2
HBA-LCR, NPRL3 1 1 0 0 0 2
HCFC1 1 0 1 0 0 2
HDAC8 1 0 1 0 0 2
HERC1 0 0 2 0 0 2
HIVEP2 0 2 0 0 0 2
HNRNPU 1 0 1 0 0 2
HUWE1, LOC126863263 0 0 1 1 0 2
IL1RAPL1 1 1 0 0 0 2
KCNC1 0 0 2 0 0 2
KDM6A 0 0 1 1 0 2
L1CAM 0 1 1 0 0 2
NAA10 1 1 0 0 0 2
NF1 2 0 0 0 0 2
NFIX 0 2 0 0 0 2
NIPBL 0 1 1 0 0 2
NLGN3 0 1 1 0 0 2
NRXN2 0 0 2 0 0 2
NSD1 1 0 1 0 0 2
PAFAH1B1 0 2 0 0 0 2
PCDH19 0 1 1 0 0 2
PIK3CA 2 0 0 0 0 2
PMM2 2 0 0 0 0 2
PTEN 0 1 1 0 0 2
PURA 1 0 1 0 0 2
RELN 0 0 1 1 0 2
SCN3A 0 0 2 0 0 2
SLC2A1 1 1 0 0 0 2
SLC6A8 2 0 0 0 0 2
SOX5 0 1 1 0 0 2
SPTAN1 0 0 2 0 0 2
ST3GAL3 0 0 2 0 0 2
ST3GAL5 1 1 0 0 0 2
TUBA1A 0 2 0 0 0 2
TUBB2A 1 0 1 0 0 2
TUBB3 1 1 0 0 0 2
UPF3B 0 1 1 0 0 2
WDR62 0 2 0 0 0 2
ZEB2 1 1 0 0 0 2
ACSL4 0 0 1 0 0 1
ADGRG1 1 0 0 0 0 1
ALDH5A1 0 1 0 0 0 1
ARID1A 0 0 1 0 0 1
ARID1B, LOC115308161 0 0 1 0 0 1
ATXN3L, GS1-600G8.3 0 0 0 1 0 1
BCKDHA 0 0 1 0 0 1
BCL11A 0 1 0 0 0 1
BPTF 0 0 1 0 0 1
CAMTA1 1 0 0 0 0 1
CFAP43 1 0 0 0 0 1
CHD2, LOC126862230 0 1 0 0 0 1
CLTC, LOC126862609 0 0 1 0 0 1
CPS1 0 0 1 0 0 1
CSNK2A1 0 1 0 0 0 1
CTNNB1 1 0 0 0 0 1
CTNNB1, LOC126806658 1 0 0 0 0 1
DLG3 1 0 0 0 0 1
DMD 0 0 1 0 0 1
DSCAM, LOC126653376 0 0 1 0 0 1
DYNC1H1, LOC130056502 0 1 0 0 0 1
EHMT1, LOC130003148 1 0 0 0 0 1
FGD1 0 0 1 0 0 1
FLNA, LOC107988032 0 0 1 0 0 1
GALNTL5 0 1 0 0 0 1
GCH1 1 0 0 0 0 1
GDI1 0 0 1 0 0 1
GNB1 1 0 0 0 0 1
GRIN2D 0 0 1 0 0 1
HCN2 0 0 1 0 0 1
HFM1 1 0 0 0 0 1
HRAS, LRRC56 0 0 1 0 0 1
IGF1R 0 0 1 0 0 1
ITPR1 0 1 0 0 0 1
KCNH1 1 0 0 0 0 1
KCNMA1 0 1 0 0 0 1
KCNQ5 0 0 1 0 0 1
KCNT1 1 0 0 0 0 1
KDM5C, LOC130068308 0 0 1 0 0 1
KIF1A 0 1 0 0 0 1
KIF2A 0 1 0 0 0 1
KLHL10 1 0 0 0 0 1
KMT2C 0 0 1 0 0 1
LAMC3 0 0 1 0 0 1
LAMP2 0 0 1 0 0 1
LGI1 0 0 1 0 0 1
LOC125467768, PCDH19 0 0 1 0 0 1
LOC126806462, SATB2 1 0 0 0 0 1
LOC126806878, TBL1XR1 0 1 0 0 0 1
LOC126863256, WDR45 0 0 1 0 0 1
LOC129994826, PURA 0 1 0 0 0 1
LOC130056977, PATL2 1 0 0 0 0 1
MAGEL2 0 1 0 0 0 1
MED17 0 0 1 0 0 1
MED23 0 1 0 0 0 1
MVP-DT, PRRT2 0 0 1 0 0 1
MYBPC1 0 1 0 0 0 1
NLGN4X 0 0 1 0 0 1
NOVA2 1 0 0 0 0 1
NPRL2 1 0 0 0 0 1
NR2F1 0 1 0 0 0 1
NRXN1 0 0 1 0 0 1
OPHN1 1 0 0 0 0 1
PABPC1L 1 0 0 0 0 1
PHF21A 0 1 0 0 0 1
PHF6 0 1 0 0 0 1
PHF8 1 0 0 0 0 1
PIGA 0 0 1 0 0 1
PLP1, RAB9B 0 1 0 0 0 1
POMGNT1, TSPAN1 0 0 1 0 0 1
PPP2R5D 0 1 0 0 0 1
PPP3CA 0 0 1 0 0 1
PQBP1 0 1 0 0 0 1
PREPL, SLC3A1 0 1 0 0 0 1
PSMD12 0 1 0 0 0 1
PTCHD1 0 1 0 0 0 1
RAD51AP2 1 0 0 0 0 1
RELN, SLC26A5 0 0 1 0 0 1
RNF113A 0 1 0 0 0 1
RORB 0 0 1 0 0 1
SETD1A 0 1 0 0 0 1
SHANK1 0 0 0 1 0 1
SHANK2 0 0 1 0 0 1
SKI 0 0 1 0 0 1
SLC16A2 1 0 0 0 0 1
SMAD4 1 0 0 0 0 1
SMARCB1 0 0 1 0 0 1
SMARCE1 0 0 1 0 0 1
SMC3 0 0 1 0 0 1
SON 1 0 0 0 0 1
STAG1 0 0 1 0 0 1
STAT1 1 0 0 0 0 1
STIL 0 0 1 0 0 1
TBCK 1 0 0 0 0 1
TMLHE 0 0 1 0 0 1
TOP6BL 1 0 0 0 0 1
TRAPPC9 1 0 0 0 0 1
TRPC5 0 0 1 0 0 1
TUBB8 1 0 0 0 0 1
UNC80 0 1 0 0 0 1
WDR26 1 0 0 0 0 1
YWHAG 0 0 1 0 0 1
ZMYM3 0 0 1 0 0 1
ZNF526 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 17
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Intellectual disability 231 178 190 17 1 617
Seizure 14 15 37 1 0 67
Abnormal cerebral morphology 11 15 12 0 0 38
Autism spectrum disorder 0 2 4 0 0 6
DYRK1A-related intellectual disability syndrome 4 0 0 0 0 4
Spermatogenic failure 18 2 0 0 0 0 2
Spermatogenic failure 88 2 0 0 0 0 2
Chronic mucocutaneous candidiasis 1 0 0 0 0 1
Female infertility due to zona pellucida defect 1 0 0 0 0 1
Male infertility 0 1 0 0 0 1
Myopathy, congenital, with tremor 0 1 0 0 0 1
Oocyte maturation defect 2 1 0 0 0 0 1
Oocyte maturation defect 4 1 0 0 0 0 1
Premature ovarian failure 9 1 0 0 0 0 1
Severe intellectual disability 1 0 0 0 0 1
Spermatogenic failure 11 1 0 0 0 0 1
Spermatogenic failure 19 1 0 0 0 0 1

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