ClinVar Miner

Variants from Neurogenetics Research Program, University of Adelaide

Location: Australia  Primary collection method: research
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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 risk factor other total
16 34 12 3 2 7 1 75

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
PCDH19 0 12 2 3 1 0 0 18
SLC32A1 0 4 4 0 0 0 0 8
COL4A2 0 3 0 0 0 0 0 3
SPAST 1 1 0 0 0 0 1 3
COL4A1 1 1 0 0 0 0 0 2
F2 0 0 0 0 0 2 0 2
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LRRC37B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 1 0 0 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 0 1
ALDH3A2 1 0 0 0 0 0 0 1
ANKRD34A, ANKRD35, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 0 0 0 0 1 0 1
AP1S2 1 0 0 0 0 0 0 1
ARFGEF1-DT, CPA6 0 1 0 0 0 0 0 1
ARHGAP31 0 1 0 0 0 0 0 1
ARX 0 0 0 0 1 0 0 1
ASTN2, TRIM32 0 0 0 0 0 1 0 1
ATP10A, CYFIP1, GOLGA6L1, GOLGA6L2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 0 0 0 0 0 1 0 1
BUB1B 0 0 1 0 0 0 0 1
CACNA1A 0 1 0 0 0 0 0 1
CACNA1C 0 1 0 0 0 0 0 1
CLCN1 1 0 0 0 0 0 0 1
CLCN2 0 1 0 0 0 0 0 1
DLG3 1 0 0 0 0 0 0 1
EGFR 0 0 1 0 0 0 0 1
F8 0 0 0 0 0 1 0 1
GALC 0 0 1 0 0 0 0 1
GNB1 1 0 0 0 0 0 0 1
GRIN2B 0 1 0 0 0 0 0 1
HTT 0 0 1 0 0 0 0 1
KIDINS220 0 1 0 0 0 0 0 1
KLHL3 0 1 0 0 0 0 0 1
MFN2 0 1 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 0 1
NECTIN2 0 0 1 0 0 0 0 1
NKX2-6 0 0 0 0 0 1 0 1
NLGN3 1 0 0 0 0 0 0 1
OFD1 1 0 0 0 0 0 0 1
PDGFRB 0 1 0 0 0 0 0 1
PIEZO2 0 0 1 0 0 0 0 1
PNPLA4, PUDP, STS, VCX, VCX2, VCX3A 1 0 0 0 0 0 0 1
PROC 0 1 0 0 0 0 0 1
SETX 0 1 0 0 0 0 0 1
SLC16A2 1 0 0 0 0 0 0 1
STARD7 1 0 0 0 0 0 0 1
SYNE2 1 0 0 0 0 0 0 1
TTN 0 1 0 0 0 0 0 1
TUBA1A 1 0 0 0 0 0 0 1
TUBB4A 1 0 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
Cerebral palsy 11 18 6 0 0 7 1 43
Non-ketotic hyperglycinemia; Developmental and epileptic encephalopathy, 9 0 10 1 0 0 0 0 11
Generalized epilepsy with febrile seizures plus 0 4 4 0 0 0 0 8
Neurodevelopmental disorder with epilepsy 0 0 0 1 1 0 0 2
sporadic NAFE 0 0 0 2 0 0 0 2
Allan-Herndon-Dudley syndrome 1 0 0 0 0 0 0 1
Autistic behavior; Intellectual disability 1 0 0 0 0 0 0 1
Epilepsy, familial adult myoclonic, 2 1 0 0 0 0 0 0 1
Familial GGE 0 0 0 1 0 0 0 1
Intellectual disability, X-linked 90 1 0 0 0 0 0 0 1
Intellectual disability, X-linked, with or without seizures, arx-related 0 0 0 0 1 0 0 1
Non-lesional parietal lobe epilepsy 0 1 0 0 0 0 0 1
Periventricular nodular heterotopia and epilepsy 0 0 1 0 0 0 0 1
Pettigrew syndrome 1 0 0 0 0 0 0 1
Refractory epilepsy with Lennox Gastaut syndrome 0 1 0 0 0 0 0 1
Simpson-Golabi-Behmel syndrome type 2 1 0 0 0 0 0 0 1

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