ClinVar Miner

Variants from Laboratoire de Génétique Moléculaire, CHU Bordeaux

Location: France  Primary collection method: clinical testing
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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
153 108 2 1 0 263

Gene and significance breakdown #

Total genes and gene combinations: 172
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
OCA2 0 21 1 0 22
HPS5 11 0 0 0 11
ASNS, CZ1P-ASNS 2 2 0 0 4
MECP2 3 1 0 0 4
KMT2A 2 1 0 0 3
NALCN 2 1 0 0 3
SETD5 3 0 0 0 3
SYNGAP1 3 0 0 0 3
VPS13B 2 0 0 1 3
ZEB2 2 1 0 0 3
ADNP 2 0 0 0 2
AGO1 0 2 0 0 2
AP1S2 2 0 0 0 2
ARID1B 2 0 0 0 2
ASXL1 2 0 0 0 2
BCL11A 2 0 0 0 2
BLOC1S6 0 2 0 0 2
CACNA1A 0 2 0 0 2
CAMK2A 0 2 0 0 2
CHD2 2 0 0 0 2
CLTC 2 0 0 0 2
CTC1 1 1 0 0 2
CYP2U1 1 1 0 0 2
DYRK1A 2 0 0 0 2
EEF1A2 1 1 0 0 2
EIF2B5 0 2 0 0 2
EPRS1 2 0 0 0 2
ERCC8 1 1 0 0 2
FOXP1 2 0 0 0 2
GALC 1 1 0 0 2
GJB2 1 1 0 0 2
KMT2D 2 0 0 0 2
MEF2C 0 2 0 0 2
NAA15 2 0 0 0 2
PEX1 2 0 0 0 2
PIGN 1 1 0 0 2
PIK3CA 2 0 0 0 2
PURA 2 0 0 0 2
PUS7 0 1 1 0 2
PYCR2 0 2 0 0 2
RMND1 2 0 0 0 2
RNASEH2B 0 2 0 0 2
SCN2A 2 0 0 0 2
SETD1B 1 1 0 0 2
SHANK2 1 1 0 0 2
SHANK3 1 1 0 0 2
STXBP1 2 0 0 0 2
WDR4 1 1 0 0 2
WDR45 1 1 0 0 2
YY1 2 0 0 0 2
ZMYND11 0 2 0 0 2
ZNF292 0 2 0 0 2
ACTB 0 1 0 0 1
AFG3L2 0 1 0 0 1
AHDC1 1 0 0 0 1
ANKRD11 1 0 0 0 1
ARHGEF9 1 0 0 0 1
ARID1A, LOC129929837 1 0 0 0 1
ASXL3 1 0 0 0 1
ATN1 0 1 0 0 1
ATP2B1 1 0 0 0 1
ATP6AP1 0 1 0 0 1
ATP8A2 1 0 0 0 1
ATRX 0 1 0 0 1
BCL11B 1 0 0 0 1
BCOR, LOC126863239 1 0 0 0 1
BICRA 1 0 0 0 1
BRPF1 1 0 0 0 1
C12orf57 1 0 0 0 1
CDK10, LINC02166 0 1 0 0 1
CDK13 0 1 0 0 1
CHAMP1 1 0 0 0 1
CHD4 1 0 0 0 1
CHN1 0 1 0 0 1
CLCN4 0 1 0 0 1
CNOT1 1 0 0 0 1
CNTNAP1 1 0 0 0 1
CNTNAP1, LOC125177481 0 1 0 0 1
COL4A1 1 0 0 0 1
CSNK2A1 1 0 0 0 1
CSNK2B 1 0 0 0 1
CTCF 1 0 0 0 1
CTNNB1 1 0 0 0 1
CTNNB1, LOC126806658 1 0 0 0 1
DCAF17 1 0 0 0 1
DDB1 0 1 0 0 1
DDX3X 0 1 0 0 1
DEAF1 0 1 0 0 1
DYNC1H1 0 1 0 0 1
EBF3 0 1 0 0 1
EHMT1 1 0 0 0 1
EZH2 0 1 0 0 1
FANCI 0 1 0 0 1
FOXG1 1 0 0 0 1
FOXP2 1 0 0 0 1
FYCO1 1 0 0 0 1
GABRB3 0 1 0 0 1
GRHL2 0 1 0 0 1
GRIN2A 0 1 0 0 1
H1-4 1 0 0 0 1
H3-3B 0 1 0 0 1
HDAC8 1 0 0 0 1
HGD 1 0 0 0 1
HIVEP2 1 0 0 0 1
HNRNPU 0 1 0 0 1
HPRT1 1 0 0 0 1
JAG1 1 0 0 0 1
KAT6A 1 0 0 0 1
KAT6B 1 0 0 0 1
KCNK4, KCNK4-CATSPERZ 1 0 0 0 1
KCNQ2 0 1 0 0 1
KDM5C 1 0 0 0 1
KIRREL3 0 1 0 0 1
KMT2C 0 1 0 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 1
LOC126863207, MID1 0 1 0 0 1
LOC129992330, SEPSECS 0 1 0 0 1
MAGEL2 1 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 1
MED12 0 1 0 0 1
MED13L 1 0 0 0 1
MED23 0 1 0 0 1
MID1 1 0 0 0 1
MIP 1 0 0 0 1
MYH6 1 0 0 0 1
NDST1 1 0 0 0 1
NEXMIF 1 0 0 0 1
NF1 1 0 0 0 1
NFIA 1 0 0 0 1
NGLY1 1 0 0 0 1
NPC1 1 0 0 0 1
PACS1 1 0 0 0 1
PAK1 0 1 0 0 1
PAX3 0 1 0 0 1
PAX6 0 1 0 0 1
PCCA 1 0 0 0 1
PIGA 0 1 0 0 1
PLD1 0 1 0 0 1
PPP2R5D 0 1 0 0 1
PRKAR1B 1 0 0 0 1
PRR12 0 1 0 0 1
PUF60 1 0 0 0 1
RAC1 0 1 0 0 1
REEP1 1 0 0 0 1
RLIM 0 1 0 0 1
SATB2 1 0 0 0 1
SEPSECS 1 0 0 0 1
SET 1 0 0 0 1
SLC1A2 0 1 0 0 1
SMC1A 1 0 0 0 1
SMC3 0 1 0 0 1
SNHG14, UBE3A 1 0 0 0 1
SOX5 0 1 0 0 1
SPEN 0 1 0 0 1
SREBF1 1 0 0 0 1
STXBP2 1 0 0 0 1
SUCLG1 1 0 0 0 1
TBL1XR1 0 1 0 0 1
TCF4 1 0 0 0 1
TDP2 1 0 0 0 1
TFE3 0 1 0 0 1
TLK2 0 1 0 0 1
TNRC6B 0 1 0 0 1
TRAPPC4 1 0 0 0 1
TRIO 0 1 0 0 1
TRPM3 1 1 0 0 1
USH1C 1 0 0 0 1
USP7 1 0 0 0 1
USP9X 1 0 0 0 1
WAC 1 0 0 0 1
WDR62 1 0 0 0 1
ZBTB18 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 71
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Condition pathogenic likely pathogenic uncertain significance likely benign total
not provided 95 51 1 1 148
Tyrosinase-positive oculocutaneous albinism 0 21 1 0 22
Hermansky-Pudlak syndrome 5 11 0 0 0 11
Rett syndrome 3 1 0 0 4
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2 0 0 0 2
Coffin-Siris syndrome 1 2 0 0 0 2
Developmental and epileptic encephalopathy, 11 2 0 0 0 2
Hermansky-Pudlak syndrome 9 0 2 0 0 2
Intellectual disability, autosomal dominant 20 0 2 0 0 2
Intellectual disability, autosomal dominant 30 0 2 0 0 2
Intellectual disability, autosomal dominant 5 2 0 0 0 2
Intellectual disability, autosomal dominant 53 0 2 0 0 2
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2 0 0 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 2 0 0 0 2
Neurodegeneration with brain iron accumulation 5 1 1 0 0 2
Wiedemann-Steiner syndrome 1 1 0 0 2
8q24.3 microdeletion syndrome 1 0 0 0 1
Angelman syndrome 1 0 0 0 1
Brain malformations with or without urinary tract defects 1 0 0 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 2 0 1 0 0 1
Chromosome 2q32-q33 deletion syndrome 1 0 0 0 1
Cohen syndrome 1 0 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 1 0 0 0 1
Cornelia de Lange syndrome 3 0 1 0 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 1 0 0 0 1
Developmental and epileptic encephalopathy 94 1 0 0 0 1
Developmental and epileptic encephalopathy, 4 1 0 0 0 1
Developmental and epileptic encephalopathy, 42 0 1 0 0 1
Developmental and epileptic encephalopathy, 43 0 1 0 0 1
Developmental and epileptic encephalopathy, 7 0 1 0 0 1
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 1 0 0 0 1
Global developmental delay 1 0 0 0 1
Global developmental delay with speech and behavioral abnormalities 0 1 0 0 1
Hereditary spastic paraplegia 46 0 1 0 0 1
Hogue-Janssens syndrome 1 0 1 0 0 1
Immunodeficiency 47 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 1 0 0 0 1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 1 0 0 1
Intellectual developmental disorder with seizures and language delay 0 1 0 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 1 0 0 0 1
Intellectual developmental disorder, autosomal dominant 64 0 1 0 0 1
Intellectual disability 1 0 0 0 1
Intellectual disability, X-linked 102 0 1 0 0 1
Intellectual disability, autosomal dominant 13 0 1 0 0 1
Intellectual disability, autosomal dominant 14 1 0 0 0 1
Intellectual disability, autosomal dominant 22 1 0 0 0 1
Intellectual disability, autosomal dominant 40 1 0 0 0 1
Intellectual disability, autosomal dominant 50 1 0 0 0 1
Intellectual disability, autosomal dominant 57 0 1 0 0 1
Intellectual disability-epilepsy-extrapyramidal syndrome 0 1 0 0 1
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 1 0 0 0 1
KBG syndrome 1 0 0 0 1
Kabuki syndrome 1 1 0 0 0 1
Kleefstra syndrome 1 1 0 0 0 1
Kleefstra syndrome 2 0 1 0 0 1
Lamb-Shaffer syndrome 0 1 0 0 1
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 1 0 0 0 1
Mowat-Wilson syndrome 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 0 1 0 0 1
Neuroocular syndrome 0 1 0 0 1
Pettigrew syndrome 1 0 0 0 1
Phelan-McDermid syndrome 0 1 0 0 1
Propionic acidemia 1 0 0 0 1
Spinocerebellar ataxia, autosomal recessive 23 1 0 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 0 0 1
Temtamy syndrome 1 0 0 0 1
Vissers-Bodmer syndrome 1 0 0 0 1
Weaver syndrome 0 1 0 0 1
White-Kernohan syndrome 0 1 0 0 1
X-linked Opitz G/BBB syndrome 0 1 0 0 1

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