ClinVar Miner

Variants from Laboratory of Human Genetics, Universidade de São Paulo

Location: Brazil  Primary collection method: research
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Gene type:
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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
48 20 6 3 0 77

Gene and significance breakdown #

Total genes and gene combinations: 50
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
AHDC1 9 0 0 0 9
PAX3 0 7 0 2 9
POLR2F, SOX10 0 4 0 0 4
ANKRD11 1 1 0 0 2
BRAT1 1 1 0 0 2
CASK 2 0 0 0 2
DDX3X 2 0 0 0 2
KNL1 1 0 1 0 2
MED13L 2 0 0 0 2
MITF 0 2 0 0 2
YY1 1 1 0 0 2
ABR, BHLHA9, CRK, INPP5K, LOC112529892, LOC112529893, LOC121848004, LOC125177403, LOC125177404, LOC125177405, LOC129390818, LOC129390819, LOC130059870, LOC130059871, LOC130059872, LOC130059873, LOC130059874, LOC130059875, LOC130059876, LOC130059877, LOC130059878, LOC130059879, LOC130059880, LOC130059881, LOC130059882, LOC130059883, LOC130059884, LOC130059885, LOC130059886, LOC130059887, LOC130059888, LOC130059889, LOC130059890, LOC130059891, LOC130059892, LOC130059893, LOC130059894, MIR22, MIR22HG, MYO1C, PITPNA, PRPF8, RILP, RPA1, SCARF1, SERPINF1, SERPINF2, SLC43A2, SMYD4, TLCD2, TRARG1, WDR81, YWHAE 1 0 0 0 1
ABR, BHLHA9, CRK, INPP5K, LOC112529892, LOC121848004, LOC129390818, LOC129390819, LOC130059870, LOC130059871, LOC130059872, LOC130059873, LOC130059874, LOC130059875, LOC130059876, LOC130059877, LOC130059878, LOC130059879, LOC130059880, LOC130059881, LOC130059882, LOC130059883, LOC130059884, LOC130059885, LOC130059886, LOC130059887, LOC130059888, LOC130059889, LOC130059890, MYO1C, PITPNA, SCARF1, SLC43A2, TRARG1, YWHAE 1 0 0 0 1
ASNS, CZ1P-ASNS 1 0 0 0 1
BCKDK 1 0 0 0 1
BRWD3 0 0 1 0 1
CCDC47 1 0 0 0 1
CTNNB1, LOC126806659 1 0 0 0 1
CYP1B1 1 0 0 0 1
DIP2B 1 0 0 0 1
DYNC1H1, LOC126862060 0 1 0 0 1
EDNRB 0 0 0 1 1
EHMT1 1 0 0 0 1
FGFR1 0 0 1 0 1
GATA6 1 0 0 0 1
GRIA3 1 0 0 0 1
JAG1 0 1 0 0 1
KCNB1 1 0 0 0 1
KCNT1 0 0 1 0 1
KDM5C 1 0 0 0 1
LDLR 1 0 0 0 1
LZTR1 1 0 0 0 1
MCPH1 1 0 0 0 1
MYT1L 1 0 0 0 1
NDP 1 0 0 0 1
PDHA1 1 0 0 0 1
PPP2CA 1 0 0 0 1
RORA 0 0 1 0 1
SALL4 1 0 0 0 1
SCAF4 1 0 0 0 1
SETD1A 0 1 0 0 1
SHH 0 0 1 0 1
SLC2A1 1 0 0 0 1
SRCAP 1 0 0 0 1
TP53BP1, TUBGCP4 0 1 0 0 1
TP63 1 0 0 0 1
TRIO 1 0 0 0 1
TUBGCP4 1 0 0 0 1
UBE3B 1 0 0 0 1
WDR45 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 46
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Condition pathogenic likely pathogenic uncertain significance likely benign total
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 9 0 0 0 9
Waardenburg syndrome type 1 0 7 0 2 9
Waardenburg syndrome type 2A 0 6 0 1 7
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2 0 0 0 2
Chromosome 17p13.3 duplication syndrome 2 0 0 0 2
Gabriele de Vries syndrome 1 1 0 0 2
Intellectual disability, X-linked 102 2 0 0 0 2
KBG syndrome 1 1 0 0 2
Microcephaly 4, primary, autosomal recessive 1 0 1 0 2
Microcephaly and chorioretinopathy 3 1 1 0 0 2
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 1 1 0 0 2
Syndromic X-linked intellectual disability Najm type 2 0 0 0 2
Atrophia bulborum hereditaria 1 0 0 0 1
Branched-chain keto acid dehydrogenase kinase deficiency 1 0 0 0 1
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 0 0 0 1
Developmental and epileptic encephalopathy, 14 0 0 1 0 1
Developmental and epileptic encephalopathy, 26 1 0 0 0 1
Duane-radial ray syndrome 1 0 0 0 1
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1 0 0 0 1
Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2 1 0 0 0 1
Floating-Harbor syndrome 1 0 0 0 1
Glaucoma 3A 1 0 0 0 1
Hepatoblastoma 0 1 0 0 1
Houge-Janssens syndrome 3 1 0 0 0 1
Hypercholesterolemia, familial, 1 1 0 0 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 0 0 1 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 0 1 0 1
Intellectual disability, FRA12A type 1 0 0 0 1
Intellectual disability, X-linked 93 0 0 1 0 1
Intellectual disability, autosomal dominant 13 0 1 0 0 1
Intellectual disability, autosomal dominant 39 1 0 0 0 1
Kleefstra syndrome 1 1 0 0 0 1
Microcephaly 1, primary, autosomal recessive 1 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 1 0 0 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 1 0 1
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 1 0 0 1
Noonan syndrome 10 1 0 0 0 1
Oculocerebrofacial syndrome, Kaufman type 1 0 0 0 1
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 1
Rare syndromic intellectual disability 1 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 1
Syndromic X-linked intellectual disability 94 1 0 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 0 0 1
Trichohepatoneurodevelopmental syndrome 1 0 0 0 1

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