ClinVar Miner

Variants studied for History of neurodevelopmental disorder

Coded as:
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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
92 40 1146 2178 1119 4574

Gene and significance breakdown #

Total genes and gene combinations: 183
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ARID1B 3 0 30 84 30 147
VPS13B 1 0 53 52 29 135
DYNC1H1 0 1 21 79 28 129
CACNA1A 2 1 42 42 35 122
CHD7 1 0 29 59 29 118
RAI1 0 0 21 63 26 110
FLNA 0 0 27 56 25 108
CREBBP 0 1 10 69 25 105
CNTNAP2 1 0 39 39 8 87
NRXN1 0 0 35 44 6 85
CHD8 2 0 24 32 15 73
SHANK3 3 1 16 35 16 71
CHD2 1 1 12 43 13 70
KIF1A 0 0 18 37 13 68
TRAPPC9 0 1 24 26 17 68
CACNA1C 0 0 14 29 24 67
EHMT1 0 0 11 38 18 67
SCN2A 1 2 21 30 12 66
NSD1 0 0 9 32 21 62
GRIN2B 0 1 8 37 14 60
HUWE1 0 0 10 27 23 60
ATP13A2 0 1 22 21 15 59
MAN1B1 0 1 17 23 17 58
KAT6A 2 0 13 29 12 56
SCN8A 3 1 7 35 8 54
CC2D1A 0 0 32 12 9 53
PNKP 2 1 20 24 6 53
SMARCA2 0 0 3 33 17 53
MECP2 8 0 9 15 19 51
SYNGAP1 3 1 9 24 10 47
GRIN2A 0 0 14 28 4 46
DHCR7 3 2 15 14 11 45
LOC102724058, SCN1A 9 2 10 20 4 45
POGZ 0 0 14 25 6 45
NIPBL 0 0 5 30 9 44
ATRX 0 1 10 19 13 43
ZEB2 1 0 6 28 7 42
LINS1 0 0 17 13 11 41
NEXMIF 2 0 19 11 9 41
TSC2 2 0 19 20 0 41
PCDH19 6 3 9 8 10 36
ADNP 1 0 8 20 6 35
NSUN2 0 0 11 16 8 35
MBD5 0 0 12 18 4 34
PIGN 0 0 7 10 16 33
FOXG1 1 0 4 26 1 32
HCN1 0 0 8 23 1 32
AP4B1 0 0 18 7 6 31
MED12 0 0 8 12 12 31
SLC2A1 3 1 5 13 9 31
ATP7A 1 0 7 8 14 30
SLC6A1 1 0 5 16 8 30
DNM1 0 0 7 16 6 29
GRIN1 0 0 6 16 6 28
NHS 0 0 8 7 13 28
PACS1 0 0 7 14 7 28
SCN1A 4 4 3 13 4 28
L1CAM 0 0 6 10 11 27
OFD1 1 0 8 8 10 27
IQSEC2 0 0 4 14 8 26
ABCD1 1 0 4 9 11 25
ALG13 0 0 7 7 11 25
KATNAL2 0 0 7 12 4 23
FOXP2 0 0 5 14 3 22
SLC6A8 0 0 3 11 8 22
SMC3 0 0 1 18 3 22
SNHG14, UBE3A 2 0 5 8 7 22
TCF4 1 0 5 12 4 22
FOXP1 0 0 6 13 2 21
SATB2 2 0 5 12 2 21
CDKL5 3 0 3 9 5 20
GAMT 0 1 11 6 2 20
STXBP1 1 0 2 13 4 20
KDM5C 0 1 4 11 3 19
CASK 1 0 5 6 6 18
DYRK1A 0 0 3 12 3 18
FGD1 1 0 5 5 7 18
MED23 0 0 6 10 2 18
NLGN4X 0 0 6 6 6 18
PHF8 0 0 4 8 6 18
SMC1A 0 0 6 7 5 18
SYN1 1 0 5 7 4 17
TSC1 0 0 6 11 0 17
ARHGEF9 0 0 3 12 0 15
GNAO1 0 1 1 10 3 15
TBR1 0 0 5 8 2 15
GATM 0 0 6 4 4 14
HOXA1 0 0 2 10 2 14
KCNJ10 0 0 5 7 2 14
PTCHD1 0 0 4 7 3 14
RAD21 0 0 4 8 2 14
SHROOM4 0 0 2 2 10 14
SLC9A6 0 0 2 4 8 14
ARX 0 0 3 7 3 13
BRWD3 0 0 3 4 6 13
FOLR1 0 1 6 4 2 13
HNRNPU 1 0 2 9 1 13
PURA 1 0 1 11 0 13
SLC16A2 0 0 2 6 5 13
IDS, LOC106050102 0 0 1 4 7 12
MID1 0 1 1 3 7 12
NLGN3 0 0 2 7 3 12
RPS6KA3 0 0 0 5 7 12
ST3GAL3 0 0 2 10 0 12
ZNF41 0 0 2 1 9 12
ARX, LOC109610631 2 0 3 5 1 11
OPHN1 0 1 1 2 7 11
PPT1 2 0 4 1 4 11
PRRT2 1 0 2 6 2 11
CTCF 0 0 0 9 1 10
OCRL 0 0 1 6 3 10
PIGA 0 0 4 4 2 10
TUSC3 0 0 4 6 0 10
DDX3X 2 2 2 1 2 9
DLG3 0 0 1 2 6 9
GPC3 0 1 1 2 5 9
GRIA3 0 0 4 0 5 9
LAMP2 0 0 1 3 5 9
OTC 0 0 2 2 5 9
PAK3 0 1 1 4 3 9
PTPN11 0 0 2 6 1 9
SMS 0 0 2 5 2 9
ZNF81 0 0 0 2 7 9
CA8 0 0 1 3 4 8
CDKL5, RS1 0 0 1 5 2 8
FTSJ1 0 0 1 2 5 8
MAOA 0 0 2 2 4 8
BCOR 0 0 0 3 4 7
FMR1 0 1 1 3 2 7
GDI1 0 0 2 2 3 7
MEF2C 1 1 1 4 0 7
PDHA1 0 0 1 3 3 7
SLC35A2 0 0 1 4 2 7
ACSL4 0 0 1 4 1 6
DCX 0 0 0 5 1 6
IDS 0 0 1 4 1 6
PORCN 0 0 0 3 3 6
PQBP1 0 0 4 1 1 6
SMARCA4 0 0 5 1 0 6
WDR45 1 0 1 1 3 6
FANCB 0 0 2 0 3 5
FGD1, TSR2 0 0 0 4 1 5
UPF3B 0 0 1 1 3 5
ZC4H2 0 0 1 2 2 5
ARHGEF6 0 0 0 1 3 4
ATP6AP2 0 0 0 1 3 4
GK 0 0 0 1 3 4
HDAC8 0 0 2 1 1 4
HPRT1 0 1 2 0 1 4
LOC114803470, SCN8A 0 0 2 2 0 4
RAB39B 0 0 1 3 0 4
RPL10 0 0 0 2 2 4
SOX3 0 0 0 1 3 4
AGTR2 0 0 0 1 2 3
CPLANE1, NIPBL 0 0 0 3 0 3
CUL4B 0 0 1 1 1 3
FLNA, LOC107988032 0 0 2 0 1 3
LOC108281134, SOX3 0 0 0 0 3 3
NDP 0 0 2 0 1 3
NDUFA1 0 0 0 1 2 3
PLP1, RAB9B 0 0 1 1 1 3
PTEN 0 0 3 0 0 3
SRPX2 0 0 0 3 0 3
TSPAN7 0 0 1 0 2 3
ZNF674 0 0 1 0 2 3
ZNF711 0 0 0 2 1 3
AP1S2 0 0 1 0 1 2
AP4B1, DCLRE1B 0 0 1 0 1 2
HCCS 0 0 0 1 1 2
HOXA1, HOXA2 0 0 0 0 2 2
PHF6 0 0 0 0 2 2
PRPS1 0 0 0 2 0 2
SMARCB1 0 0 1 1 0 2
SYP 0 0 1 1 0 2
UBE2A 0 0 2 0 0 2
CIZ1, DNM1 0 0 0 0 1 1
DKC1 0 0 1 0 0 1
FMR1, LOC107032825 0 0 0 0 1 1
GAMT, NDUFS7 0 0 0 0 1 1
GJB1 0 0 0 1 0 1
IL1RAPL1 0 0 0 1 0 1
LOC111721705, ZEB2 0 0 0 1 0 1
ZDHHC9 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 92 40 1146 2178 1119 4574

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