ClinVar Miner

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

Location: Italy  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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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
5 7 9 1 0 21

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
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, LOC124174310, LOC127460072, LOC128897169, LOC130000919, LOC130000920, LOC130000921, LOC130000922, LOC130000923, LOC130000924, LOC130000925, LOC130000926, LOC130000927, LOC130000928, LOC130000929, 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
COG7 1 0 0 0 1
COG7, LOC130058658 0 1 0 0 1
CYBRD1, DLX1, DLX2, DYNC1I2, HAT1, METAP1D, SLC25A12 0 0 1 0 1
DDC 0 1 0 0 1
GLIS2, LINC01569, LOC125146387, LOC125146388, LOC130058361, LOC130058362, LOC130058363, LOC130058364, LOC130058365, SRL, TFAP4 0 0 1 0 1
HDAC8 1 0 0 0 1
IMMP2L, LOC129389845 0 0 1 0 1
LOC101928834, LOC124403918, LOC129390148, MALRD1, PLXDC2 0 0 1 0 1
LOC108281177, SOX2, SOX2-OT 0 0 1 0 1
LOC130002223, TGFBR1 0 0 0 1 1
NR2F2 0 1 0 0 1
PRPF8 0 0 1 0 1
SMC3 0 1 0 0 1
SND1 0 0 1 0 1
SOX4 0 1 0 0 1
THPO 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Intellectual disability, mild 0 1 2 0 3
COG7 congenital disorder of glycosylation 1 1 0 0 2
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 1 1 0 0 2
Intellectual disability 1 1 0 0 2
Isolated Pierre-Robin syndrome; Intellectual disability, mild; Bilateral conductive hearing impairment; Abnormal esophagus physiology 0 1 1 0 2
Seizure; Fetal growth restriction; Narrow nasal bridge; Mandibular prognathia; Delayed speech and language development 0 0 2 0 2
Atypical behavior; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Intellectual disability, mild; Secondary microcephaly 0 0 1 0 1
Atypical behavior; Moderate global developmental delay 0 0 1 0 1
Autism spectrum disorder 0 0 1 0 1
Autistic behavior; Absent speech 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 aniridia 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; Decreased response to growth hormone stimulation test; 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; Seizure; Hypotelorism; Short philtrum; Infantile muscular hypotonia 0 0 1 0 1
Marfan syndrome 0 0 0 1 1
Retinitis pigmentosa 14 0 0 1 0 1
Seizure 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
Thrombocythemia 1 1 0 0 0 1

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