ClinVar Miner

Variants from Medical Genetics Lab,Policlinico S. Orsola.Malpighi

Location: Italy — 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
4 8 14 1 0 27

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
COG7 1 1 0 0 2
MED25 1 1 0 0 2
​intergenic 0 0 1 0 1
ACADVL, ACAP1, CHRNB1, CLDN7, CTDNEP1, DVL2, EIF5A, ELP5, FGF11, GABARAP, GPS2, KCTD11, NEURL4, NLGN2, PHF23, PLSCR3, POLR2A, SLC2A4, SLC35G6, SPEM1, SPEM2, TMEM102, TMEM256, TMEM95, TNK1, YBX2, ZBTB4 0 1 0 0 1
ADCY3, CENPO, DNAJC27, DNMT3A, DTNB, EFR3B, NCOA1, POMC, PTRHD1 0 0 1 0 1
AFF4, CCNI2, FSTL4, GDF9, HSPA4, IL13, IL4, IL5, IRF1, KIF3A, LEAP2, P4HA2, PDLIM4, RAD50, SEPTIN8, SHROOM1, SLC22A4, SLC22A5, SOWAHA, UQCRQ, ZCCHC10 0 0 1 0 1
AGPAT2, C9orf163, DIPK1B, EGFL7, MIR126, NOTCH1, SEC16A 0 0 1 0 1
AMBRA1, CHRM4, CREB3L1, DGKZ, HARBI1, MDK 0 0 1 0 1
ANKRD42, CCDC81, CCDC83, CCDC89, CCDC90B, CHORDC1, CREBZF, CTSC, DDIAS, DLG2, EED, FAM181B, FOLH1B, FZD4, GRM5, HIKESHI, ME3, NAALAD2, NOX4, PCF11, PICALM, PRCP, PRSS23, RAB30, RAB38, SYTL2, TMEM126A, TMEM126B, TMEM135, TRIM49, TRIM49C, TRIM49D1, TRIM49D2, TRIM64, TRIM64B, TRIM77, TYR, UBTFL1 1 0 0 0 1
ARR3, DLG3, GDPD2, KIF4A, P2RY4, PDZD11, RAB41 0 1 0 0 1
AZIN1, GASAL1, KLF10, LOC101927245, UBR5 0 0 1 0 1
BTBD9 0 0 1 0 1
CACNB2 0 0 1 0 1
CEP85L, PLN 0 0 1 0 1
CYBRD1, DLX1, DLX2, DYNC1I2, HAT1, METAP1D, SLC25A12 0 0 1 0 1
DDC 0 1 0 0 1
GLIS2, LINC01569, SRL, TFAP4 0 0 1 0 1
HDAC8 1 0 0 0 1
IMMP2L 0 0 1 0 1
LOC101928834, MALRD1, PLXDC2 0 0 1 0 1
NR2F2 0 1 0 0 1
SMC3 0 1 0 0 1
SND1 0 0 1 0 1
SOX4 0 1 0 0 1
TGFBR1 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Intellectual disability, mild 0 1 2 0 3
Basel-Vanagaite-Smirin-Yosef syndrome 1 1 0 0 2
COG7 congenital disorder of glycosylation 1 1 0 0 2
Intellectual disability 1 1 0 0 2
Robin sequence; Intellectual disability, mild; Bilateral conductive hearing impairment; Abnormality of esophagus physiology 0 1 1 0 2
Seizures; Narrow nasal bridge; Mandibular prognathia; Delayed speech and language development; Intrauterine growth retardation 0 0 2 0 2
Autism spectrum disorder 0 0 1 0 1
Autistic behavior; Absent speech 0 0 1 0 1
Behavioral abnormality; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Intellectual disability, mild; Postnatal microcephaly 0 0 1 0 1
Behavioral abnormality; Moderate global developmental delay 0 0 1 0 1
Blepharophimosis; Upslanted palpebral fissure; Clinodactyly of the 5th finger; Delayed speech and language development; Short philtrum; Narrow mouth 0 0 1 0 1
Congenital heart defects, multiple types, 4 0 1 0 0 1
Cornelia de Lange syndrome 5 1 0 0 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 0 1 0 0 1
Ebstein anomaly of the tricuspid valve; Growth hormone deficiency; Intellectual disability, mild 0 0 1 0 1
Failure to thrive in infancy; Attention deficit hyperactivity disorder 0 0 1 0 1
Global developmental delay; Seizures; Hypotelorism; Short philtrum; Infantile muscular hypotonia 0 0 1 0 1
Marfan syndrome 0 0 0 1 1
Seizures 0 1 0 0 1
Tall stature; Bilateral cryptorchidism; Broad forehead; Delayed speech and language development; Thick eyebrow; Sandal gap; Broad hallux phalanx 0 0 1 0 1

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