ClinVar Miner

Variants from GenomeConnect - Simons Searchlight

Location: United States  Primary collection method: provider interpretation
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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
222 122 36 1 0 381

Gene and significance breakdown #

Total genes and gene combinations: 33
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
SCN2A 39 33 12 0 84
STXBP1 26 12 3 0 41
ASXL3 26 11 1 0 38
GRIN2B 10 21 3 0 34
MED13L 17 3 2 0 22
DYRK1A 18 3 0 0 21
SYNGAP1 12 5 3 0 20
ADNP 9 5 2 1 17
SETBP1 7 5 4 0 16
HIVEP2 6 4 2 0 12
PPP2R5D 6 5 1 0 12
CHAMP1 10 0 1 0 11
CSNK2A1 6 3 0 0 9
ANKRD11 5 0 1 0 6
CHD8 4 1 0 0 5
FOXP1 3 1 1 0 5
CHD2 2 2 0 0 4
HNRNPH2, RPL36A-HNRNPH2 1 3 0 0 4
CTNNB1 2 0 0 0 2
CTNNB1, LOC126806658 2 0 0 0 2
FOXP1, LOC126806714 1 1 0 0 2
LOC130002651, STXBP1 0 2 0 0 2
PTCHD1 1 1 0 0 2
AK1, BBLN, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, DYNC2I2, EEIG1, ENG, FPGS, GLE1, GOLGA2, LCN2, MIR199B, MIR2861, NAIF1, ODF2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, SLC27A4, SPTAN1, ST6GALNAC4, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRUB2, TTC16, URM1 1 0 0 0 1
CDC16, CHAMP1, RASA3, UPF3A 1 0 0 0 1
CHAMP1, LINC01054 1 0 0 0 1
CHD2, LOC126862230 1 0 0 0 1
CSNK2A1, RBCK1, TBC1D20, TRIB3 0 1 0 0 1
CSRNP3, SCN2A, SCN3A 1 0 0 0 1
CTNNB1, LOC126806659 1 0 0 0 1
GADL1 1 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 1
PACS1 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Complex neurodevelopmental disorder 82 64 18 0 164
Infantile epilepsy syndrome 28 14 3 0 45
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 27 11 1 0 39
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 17 3 2 0 22
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 9 5 2 1 17
Intellectual disability, autosomal dominant 29 7 5 4 0 16
CHAMP1-related syndrome 12 0 1 0 13
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome 7 5 1 0 13
Intellectual disability, autosomal dominant 43 6 4 2 0 12
Okur-Chung neurodevelopmental syndrome 6 4 0 0 10
Intellectual disability-severe speech delay-mild dysmorphism syndrome 4 2 1 0 7
KBG syndrome 5 0 1 0 6
Autism spectrum disorder 4 1 0 0 5
Severe intellectual disability-progressive spastic diplegia syndrome 5 0 0 0 5
Intellectual disability, X-linked, syndromic, Bain type 1 3 0 0 4
Non-syndromic X-linked intellectual disability 1 1 0 0 2
Schuurs-Hoeijmakers syndrome 1 0 0 0 1

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