ClinVar Miner

Variants from Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan

Location: Argentina  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:

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
105 99 36 4 3441 3685

Gene and significance breakdown #

Total genes and gene combinations: 639
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DOCK8 0 0 0 0 62 62
SPINK5 0 0 0 0 49 49
PLCG2 0 0 0 0 44 44
SCN1A 12 9 0 0 19 40
PLCB1 0 0 0 0 37 37
PRKCD 0 0 0 0 35 35
CACNA1A 1 3 2 0 27 33
ERAP1 0 0 0 0 33 33
KCNT1 0 0 0 0 33 33
FAT4 0 0 0 0 29 29
COL4A4 0 0 0 0 28 28
NLRP3 0 0 0 0 28 28
VARS2 0 0 0 0 28 28
COL6A3 0 0 0 0 27 27
LOC102724058, SCN1A 11 13 0 0 3 27
DOCK2 0 0 0 0 26 26
LIG1 0 0 0 0 26 26
CHD2 1 1 0 0 23 25
STXBP2 0 0 0 0 25 25
CARD11 0 0 0 0 24 24
TPP2 0 0 0 0 24 24
SLC2A1 9 6 0 1 7 23
COL4A3, MFF-DT 0 0 0 0 22 22
TTC7A 0 0 0 0 22 22
AP3D1 0 0 0 0 21 21
ADCY5 0 0 0 0 20 20
ATP1A2 0 2 0 0 18 20
FCHO1 0 0 0 0 20 20
SCN1A, SCN9A 0 0 0 0 20 20
CRACR2A 0 0 0 0 19 19
RIGI 0 0 0 0 19 19
FERMT1 0 0 0 0 18 18
JAK1 0 0 0 0 18 18
KCNQ2 3 1 0 1 13 18
LYST 0 0 0 0 18 18
MAN2B2 0 0 0 0 18 18
SCN2A 1 2 1 0 14 18
SCN8A 0 5 1 0 12 18
WWOX 1 0 1 0 16 18
IL17RA 0 0 0 0 17 17
IL1RN 0 0 0 0 17 17
JAK3 0 0 0 0 17 17
LRBA 0 0 0 0 17 17
MYH9 0 0 0 0 17 17
PIGQ 0 0 0 0 17 17
RORC 0 0 0 0 17 17
UNC13D 0 0 0 0 17 17
​intergenic 0 0 0 0 16 16
ADA2 0 0 0 0 16 16
BRAT1 2 0 0 0 14 16
DICER1 9 5 2 0 0 16
EPG5 0 0 0 0 16 16
ERBB4 0 0 0 0 16 16
INF2 0 0 0 0 16 16
ITGB2 0 0 0 0 16 16
PI4KA 0 0 0 0 16 16
SPTAN1 0 0 0 0 16 16
SYK 0 0 0 0 16 16
TFRC 0 0 0 0 16 16
DOCK7 0 0 0 0 15 15
MAGI2 0 0 0 0 15 15
TMC6 0 0 0 0 15 15
IL12RB1 0 0 0 0 14 14
IRF7 0 0 0 0 14 14
MEFV 0 0 0 0 14 14
PLCE1 0 0 0 0 14 14
RTEL1, RTEL1-TNFRSF6B 0 0 0 0 14 14
SCN3A 1 0 0 0 13 14
ALDH7A1 0 3 2 0 8 13
ATM 0 0 0 0 13 13
GRIN2B 1 1 0 0 11 13
IFIH1 0 0 0 0 13 13
MCM10 0 0 0 0 13 13
NUP107 0 0 0 0 13 13
SLC12A5 0 0 1 0 12 13
AP3B1 0 0 0 0 12 12
CACNA1B 0 0 0 0 12 12
IL7R 0 0 0 0 12 12
MSH6 0 0 0 0 12 12
NEIL3 0 0 0 0 12 12
NOS2 0 0 0 0 12 12
SLC29A3 0 0 0 0 12 12
TMC8 0 0 0 0 12 12
ADAR 1 0 0 0 10 11
APOL1 0 0 0 0 11 11
ATP13A2 0 0 0 0 11 11
DDC 0 0 0 0 11 11
DEPDC5 0 3 1 1 6 11
FBN1 0 0 0 0 11 11
KMT2D 0 0 0 0 11 11
NBN 0 0 0 0 11 11
NLRP1 0 0 0 0 11 11
NLRP12 0 0 0 0 11 11
PIK3R1 0 0 0 0 11 11
CARS2 0 0 0 0 10 10
CCBE1 0 0 0 0 10 10
CHRNA4 0 0 0 0 10 10
FOXN1 0 0 0 0 10 10
GABRB3 0 0 1 0 9 10
IL2RB 0 0 0 0 10 10
IRF8 0 0 0 0 10 10
MVK 0 0 0 0 10 10
NOD2 0 0 0 0 10 10
POLD1 0 0 0 0 10 10
TRNT1 0 0 0 0 10 10
TYK2 0 0 0 0 10 10
WDR1 0 0 0 0 10 10
ZNFX1 0 0 0 0 10 10
ATAD3A 0 0 0 0 9 9
CD2AP 0 0 0 0 9 9
CD3E 0 0 0 0 9 9
CD4 0 0 0 0 9 9
CTC1 0 0 0 0 9 9
CYBA 0 0 0 0 9 9
DNM1 1 0 0 0 8 9
ERBIN 0 0 0 0 9 9
GRIN1 1 1 0 0 7 9
IL2RA 0 0 0 0 9 9
IL6R 0 0 0 0 9 9
ITPA 0 0 0 0 9 9
LCP2 0 0 0 0 9 9
PGM1 0 0 0 0 9 9
POLG 0 1 0 0 8 9
POU2AF1 0 0 0 0 9 9
PSTPIP1 0 0 0 0 9 9
RB1 6 2 1 0 0 9
RBCK1 0 0 0 0 9 9
SLC39A14 0 0 0 0 9 9
STAT1 0 0 0 0 9 9
SYNGAP1 2 1 0 0 6 9
TIRAP 0 0 0 0 9 9
TRIM22 0 0 0 0 9 9
ZAP70 0 0 0 0 9 9
ADAM17, IAH1 0 0 0 0 8 8
AIRE 0 0 0 0 8 8
AP1S3 0 0 0 0 8 8
ASNS, CZ1P-ASNS 0 0 0 0 8 8
BLNK 0 0 0 0 8 8
COPA 0 0 0 0 8 8
COPG1 0 0 0 0 8 8
CTPS1 0 0 0 0 8 8
DBR1 0 0 2 0 6 8
GNAL 0 0 0 0 8 8
GOSR2, LRRC37A2 0 0 0 0 8 8
IFNAR2, IFNAR2-IL10RB 0 0 0 0 8 8
IFNGR1 0 0 0 0 8 8
IL12RB2 0 0 0 0 8 8
IL22RA1 0 0 0 0 8 8
IRF1 0 0 0 0 8 8
ITCH 0 0 0 0 8 8
NCF4 0 0 0 0 8 8
NFKBIA 0 0 0 0 8 8
NLRC4 0 0 0 0 8 8
POLR3F 0 0 0 0 8 8
PRKDC 0 0 0 0 8 8
PTEN 0 0 1 0 7 8
SCN9A 0 0 0 0 8 8
SIK1 0 0 0 0 8 8
SLC7A7 0 0 0 0 8 8
STING1 0 0 0 0 8 8
TCF3 0 0 0 0 8 8
TH 0 0 0 0 8 8
TPP1 1 0 0 0 7 8
TRPC6 0 0 0 0 8 8
ATM, C11orf65 0 0 0 0 7 7
BACH2 0 0 0 0 7 7
CARD14 0 0 0 0 7 7
CARMIL2 0 0 0 0 7 7
CHRNA2 0 0 1 0 6 7
CIB1 0 0 0 0 7 7
CR2 0 0 0 0 7 7
FARS2 0 0 0 0 7 7
GABRA1 0 1 0 1 5 7
HBA-LCR, NPRL3 0 1 1 0 5 7
IL17RC 0 0 0 0 7 7
ITPKB 0 0 0 0 7 7
LPIN2 0 0 0 0 7 7
NCKAP1L 0 0 0 0 7 7
OAS1 0 0 0 0 7 7
PLA2G6 0 0 2 0 5 7
PPT1 1 1 0 0 5 7
PRKN 0 0 0 0 7 7
SETBP1 0 0 0 0 7 7
SH3BP2 0 0 0 0 7 7
SLC19A3 0 0 0 0 7 7
STK4 0 0 0 0 7 7
STXBP1 2 3 0 0 2 7
TOP2B 0 0 0 0 7 7
ACTN4 0 0 0 0 6 6
APTX 1 0 0 0 5 6
ARHGEF1 0 0 0 0 6 6
CARD14, SGSH 0 0 0 0 6 6
DCAF17 0 0 0 0 6 6
DNASE1L3 0 0 0 0 6 6
FA2H 0 0 0 0 6 6
FAAP24 0 0 0 0 6 6
FNIP1 0 0 0 0 6 6
GNAO1 0 1 0 0 5 6
IKBKB 0 0 0 0 6 6
INO80 0 0 0 0 6 6
ITK 0 0 0 0 6 6
LOC126859646, VARS2 0 0 0 0 6 6
MAPK8 0 0 0 0 6 6
NFAT5 0 0 0 0 6 6
NFKB1 0 0 0 0 6 6
NHEJ1 0 0 0 0 6 6
PAX2 0 0 0 0 6 6
PIK3CD 0 0 0 0 6 6
PINK1 0 0 0 0 6 6
PRF1 0 0 0 0 6 6
RPA1 0 0 0 0 6 6
SCN1B 1 1 0 0 4 6
SP110, SP140 0 0 0 0 6 6
STIM1 0 0 0 0 6 6
TOM1 0 0 0 0 6 6
WT1 0 0 0 0 6 6
AICDA 0 0 0 0 5 5
AIMP1 0 0 0 0 5 5
ALDH5A1 0 0 0 0 5 5
AP2M1 0 0 0 0 5 5
CARD9 0 0 0 0 5 5
CASD1, SGCE 0 1 0 0 4 5
CDKL5 3 2 0 0 0 5
CLN5 0 0 1 0 4 5
CYBC1 0 0 0 0 5 5
FAS 0 0 0 0 5 5
GABRB1 0 0 0 0 5 5
GABRG2 0 0 1 0 4 5
GATA2 0 0 0 0 5 5
HEPH 0 0 0 0 5 5
IFNAR1 0 0 0 0 5 5
IFNAR2-IL10RB, IL10RB 0 0 0 0 5 5
IKZF2 0 0 0 0 5 5
IL10RA 0 0 0 0 5 5
IL23R 0 0 0 0 5 5
IL36RN 0 0 0 0 5 5
INSL6, JAK2 0 0 0 0 5 5
IRF1, LOC126807508 0 0 0 0 5 5
IRF4 0 0 0 0 5 5
ISG15 0 0 0 0 5 5
KCNA1 0 1 0 0 4 5
MAF, WWOX 0 0 0 0 5 5
NFKB2 0 0 0 0 5 5
NOP10 0 0 0 0 5 5
PDCD1 0 0 0 0 5 5
PEPD 0 0 0 0 5 5
PIK3CG 0 0 0 0 5 5
PKD1, TSC2 0 0 0 0 5 5
PNP 0 0 0 0 5 5
PSMB4 0 0 0 0 5 5
PSMB9 0 0 0 0 5 5
RASGRP1 0 0 0 0 5 5
SCARB2 0 0 0 0 5 5
SMARCAL1 0 0 0 0 5 5
SPI1 0 0 0 0 5 5
SPPL2A 0 0 0 0 5 5
TARS2 1 0 1 0 3 5
TBK1 0 0 0 0 5 5
TLR8 0 0 0 0 5 5
TNFRSF13B 0 0 0 0 5 5
TRAP1 0 0 0 0 5 5
WIPF1 0 0 0 0 5 5
ATP1A3 1 1 0 0 2 4
CASP10 0 0 0 0 4 4
CD27 0 0 0 0 4 4
COQ2 0 0 0 0 4 4
DCLRE1C 0 0 0 0 4 4
EPM2A 0 0 0 0 4 4
GATM 0 0 0 0 4 4
GCH1 2 0 0 0 2 4
IFNGR2, TMEM50B 0 0 0 0 4 4
IGH, IGHM 0 0 0 0 4 4
IKZF1 0 0 0 0 4 4
IL21R 0 0 0 0 4 4
IL6ST 0 0 0 0 4 4
IRAK1 0 0 0 0 4 4
KARS1 0 0 0 0 4 4
KCNA2 0 0 0 0 4 4
KDM6A 0 0 0 0 4 4
LMX1B 0 0 0 0 4 4
NPHS1 0 0 0 0 4 4
NPHS2 0 0 0 0 4 4
OTULIN 0 0 0 0 4 4
PARN 0 0 0 0 4 4
PCDH19 0 1 1 0 2 4
POLR3A 0 0 0 0 4 4
PRDM8 0 0 0 0 4 4
PSMB8 0 0 0 0 4 4
RAC2 0 0 0 0 4 4
RNASEH2A 0 0 0 0 4 4
RNASEH2B 0 0 0 0 4 4
SEC61A1 0 0 0 0 4 4
SLC13A5 0 0 0 0 4 4
SLC6A1 0 1 0 0 3 4
STAT3 0 0 0 0 4 4
STX1B 0 1 0 0 3 4
TET2 0 0 0 0 4 4
TGFBR1 0 0 0 0 4 4
TGFBR2 0 0 0 0 4 4
TNFRSF9 0 0 0 0 4 4
TNFSF12, TNFSF12-TNFSF13 0 0 0 0 4 4
TRAF3 0 0 0 0 4 4
TRAF3IP2 0 0 0 0 4 4
TSC1 0 0 0 0 4 4
USP18 0 0 0 0 4 4
ZEB2 0 0 0 0 4 4
AARS1 0 0 0 0 3 3
ACD 0 0 0 0 3 3
ACP5 0 0 0 0 3 3
BTK 0 0 0 0 3 3
CACNA2D2 0 0 0 0 3 3
CARD14, LOC126862662, SGSH 0 0 0 0 3 3
CASP8 0 0 0 0 3 3
CD247 0 0 0 0 3 3
CD3D 0 0 0 0 3 3
CD93 0 0 0 0 3 3
CHUK 0 0 0 0 3 3
COASY 0 0 0 0 3 3
COL4A5 0 0 0 0 3 3
COQ6, ENTPD5 0 0 0 0 3 3
COQ8B 0 0 0 0 3 3
CXCR4 0 0 0 0 3 3
DIAPH1 0 0 0 0 3 3
FCGR3A 0 0 0 0 3 3
FOXP3 0 0 0 0 3 3
GABRA5 0 0 0 0 3 3
GBA1, LOC106627981 0 0 0 0 3 3
HAVCR2 0 0 0 0 3 3
ICOS 0 0 0 0 3 3
IFNGR2 0 0 0 0 3 3
IKZF3 0 0 0 0 3 3
IL10, IL19 0 0 0 0 3 3
IL12B 0 0 0 0 3 3
IL4I1, NUP62 0 0 0 0 3 3
IRAK4 0 0 0 0 3 3
KCNQ3 0 0 0 0 3 3
LOC107982234, WT1 0 0 0 0 3 3
LOC126862264, MEFV 0 0 0 0 3 3
LOC130065345, PANK2 0 0 0 0 3 3
MECP2 2 0 0 0 1 3
MFSD8 1 0 1 0 1 3
NCF2 0 0 0 0 3 3
NEXMIF 3 0 0 0 0 3
NME1, NME1-NME2 0 0 0 0 3 3
PIGA 0 1 0 0 2 3
PNKP 0 0 0 0 3 3
PSMG2 0 0 0 0 3 3
QARS1 0 0 0 0 3 3
RNF31 0 0 0 0 3 3
RUNX3 0 0 0 0 3 3
TERT 0 0 0 0 3 3
TICAM1 0 0 0 0 3 3
TLR3 0 0 0 0 3 3
TNFAIP3 0 0 0 0 3 3
TNFRSF1A 0 0 0 0 3 3
TNFSF12-TNFSF13, TNFSF13 0 0 0 0 3 3
TSC2 0 0 0 0 3 3
UBA1 0 0 0 0 3 3
UNC93B1 0 0 0 0 3 3
WRAP53 0 0 0 0 3 3
ZNF341 0 0 0 0 3 3
ACTA2, FAS, LOC130004294 0 0 0 0 2 2
ADA 0 0 0 0 2 2
ADAR, LOC126805874 0 0 0 0 2 2
ADSL 0 0 0 0 2 2
ALPI 0 0 0 0 2 2
ARPC1B 0 0 0 0 2 2
ATG4A 0 0 0 0 2 2
AXDND1, NPHS2 0 0 0 0 2 2
BCL11B 0 0 0 0 2 2
C19orf12 0 0 0 0 2 2
C4B 0 0 0 0 2 2
CASK 0 0 0 0 2 2
CD19 0 0 0 0 2 2
CD40 0 0 0 0 2 2
CD40, LOC127893450 0 0 0 0 2 2
CD40LG 0 0 0 0 2 2
CD70 0 0 0 0 2 2
CD79B, GH-LCR 0 0 0 0 2 2
CHRNA4, LOC126863087 0 0 0 0 2 2
COL6A3, LOC126806573 0 0 0 0 2 2
COQ6 0 0 0 0 2 2
CTNNBL1 0 0 0 0 2 2
DCLRE1C, SUV39H2 0 0 0 0 2 2
DEF6 0 0 0 0 2 2
DKC1 0 0 0 0 2 2
DNASE1 0 0 0 0 2 2
DNM1, LOC113839516 0 0 0 0 2 2
DOCK7, LOC129930655 0 0 0 0 2 2
DOCK8, LOC126860552 0 0 0 0 2 2
DOCK8, LOC130001435 0 0 0 0 2 2
ERAP1, LOC126807458 0 0 0 0 2 2
FBXL3 0 0 0 0 2 2
GAMT 0 0 0 0 2 2
GIMAP6 0 0 0 0 2 2
GINS1 0 0 0 0 2 2
GRIN2A 0 0 0 0 2 2
HCN1 1 0 0 0 1 2
IGH 0 0 0 0 2 2
IL10 0 0 0 0 2 2
IL10RB 0 0 0 0 2 2
IL17RA, LOC130066894 0 0 0 0 2 2
IL24 0 0 0 0 2 2
IRF3 0 0 0 0 2 2
ITPKB, LOC129932672 0 0 0 0 2 2
KCNMA1 1 0 1 0 0 2
KCTD7 0 0 0 0 2 2
KMT2A 0 0 0 0 2 2
LOC105378353, SLC29A3 0 0 0 0 2 2
LOC106029312, NCF1 0 0 0 0 2 2
LOC121815964, NFKB2 0 0 0 0 2 2
LOC126859871, PRKN 0 0 0 0 2 2
LOC126860278 0 0 0 0 2 2
LOC129992246, WDR1 0 0 0 0 2 2
LOC130067355, RAC2 0 0 0 0 2 2
MAP1LC3B2 0 0 0 0 2 2
MAP3K14 0 0 0 0 2 2
MBD5 0 0 0 0 2 2
MVP-DT, PRRT2 1 0 0 0 1 2
NECAP1 0 0 0 0 2 2
NOC3L, PLCE1 0 0 0 0 2 2
NPRL2 0 0 0 0 2 2
ORAI1 0 0 0 0 2 2
PARS2 0 0 0 0 2 2
PIGS 0 1 1 0 0 2
PLPBP 0 0 1 0 1 2
PNPO 0 0 0 0 2 2
POLA1 0 0 0 0 2 2
POMP 0 0 0 0 2 2
PSMA3 0 0 0 0 2 2
PTPN23 0 1 1 0 0 2
RAB27A 0 0 0 0 2 2
RAG1 0 0 0 0 2 2
RARS2 1 1 0 0 0 2
REL 0 0 0 0 2 2
RELA 0 0 0 0 2 2
RELB 0 0 0 0 2 2
RFXANK 0 0 0 0 2 2
RIPK1 0 0 0 0 2 2
RUVBL1, SEC61A1 0 0 0 0 2 2
SAMD9 0 0 0 0 2 2
SAMHD1 0 0 0 0 2 2
SASH3 0 0 0 0 2 2
SLC30A10 0 0 0 0 2 2
SLC35A2 0 0 0 0 2 2
SMC1A 1 0 0 0 1 2
SP110 0 0 0 0 2 2
TAF1 0 0 0 0 2 2
TOR1A 0 0 0 0 2 2
XIAP 0 0 0 0 2 2
ACOX1 0 1 0 0 0 1
ACTA2, FAS, LOC130004293 0 0 0 0 1 1
ACTN4, LOC130064361 0 0 0 0 1 1
ADA, LOC107303343 0 0 0 0 1 1
ADAM17 0 0 0 0 1 1
ADAR, LOC129931512 0 0 0 0 1 1
AIFM1, RAB33A 0 0 1 0 0 1
ALG11, UTP14C 0 0 0 0 1 1
ALG13 1 0 0 0 0 1
AP4B1, DCLRE1B 0 0 0 0 1 1
APBA2, ARHGAP11B, ARHGAP11B-DT, ATP10A, ATP10A-DT, CHRFAM7A, CHRNA7, CYFIP1, ENTREP2, FAN1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA6L24, GOLGA6L25, GOLGA6L26, GOLGA6L7, GOLGA8F, GOLGA8G, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8Q, GOLGA8R, GOLGA8S, GOLGA8T, HERC2, IPW, KLF13, LCIIAR, LINC00929, LINC02249, LINC02250, LINC02346, LINC02352, LINC03034, LOC106736464, LOC106736465, LOC106736468, LOC106736476, LOC106736477, LOC106736480, LOC106783506, LOC110121498, LOC112272575, LOC112272576, LOC112272578, LOC112272579, LOC112272580, LOC112272581, LOC112272582, LOC121847940, LOC121847941, LOC125078046, LOC125078047, LOC125078048, LOC125078049, LOC125078051, LOC125078052, LOC125078053, LOC126862074, LOC126862075, LOC126862076, LOC126862077, LOC126862078, LOC126862079, LOC126862080, LOC126862081, LOC126862082, LOC126862083, LOC126862084, LOC126862085, LOC126862086, LOC126862087, LOC126862088, LOC126862089, LOC127829159, LOC128772394, LOC128899998, LOC128899999, LOC129390675, LOC129390676, LOC129390677, LOC129390678, LOC129390679, LOC129390680, LOC130056707, LOC130056708, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC130056719, LOC130056720, LOC130056721, LOC130056722, LOC130056723, LOC130056724, LOC130056725, LOC130056726, LOC130056727, LOC132090298, LOC132090299, LOC283683, MAGEL2, MIR211, MIR4508, MIR4509-1, MIR4509-2, MIR4509-3, MIR4715, MKRN3, MTMR10, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, OTUD7A, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PWRN3, PWRN4, SNHG14, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-45, SNORD115-46, SNORD115-47, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-30, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD64, SNRPN, SNURF, TJP1, TRE-TTC2-2, TRPM1, TUBGCP5, UBE3A 1 0 0 0 0 1
APBA2, ATP10A, ATP10A-DT, CYFIP1, ENTREP2, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA6L24, GOLGA6L25, GOLGA6L26, GOLGA6L7, GOLGA8F, GOLGA8G, GOLGA8M, GOLGA8S, HERC2, IPW, LCIIAR, LINC00929, LINC02250, LINC02346, LOC112272575, LOC112272576, LOC112272578, LOC112272579, LOC112272580, LOC112272581, LOC121847940, LOC125078046, LOC125078047, LOC125078048, LOC125078049, LOC125078051, LOC125078052, LOC126862074, LOC126862075, LOC126862076, LOC126862077, LOC126862078, LOC126862079, LOC126862080, LOC126862081, LOC126862082, LOC126862083, LOC126862084, LOC126862085, LOC126862086, LOC126862087, LOC128772394, LOC129390675, LOC129390676, LOC129390677, LOC129390678, LOC130056707, LOC130056708, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC130056719, LOC130056720, LOC130056721, LOC130056722, LOC130056723, LOC130056724, LOC130056725, LOC132090298, LOC132090299, LOC283683, MAGEL2, MIR4508, MIR4509-1, MIR4509-2, MIR4509-3, MIR4715, MKRN3, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PWRN3, PWRN4, SNHG14, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-45, SNORD115-46, SNORD115-47, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-30, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD64, SNRPN, SNURF, TJP1, TRE-TTC2-2, TUBGCP5, UBE3A 1 0 0 0 0 1
ARX, LOC109610631 1 0 0 0 0 1
ATP10A, ATP10A-DT, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA6L24, GOLGA6L26, GOLGA8F, GOLGA8S, HERC2, IPW, LINC00929, LINC02250, LINC02346, LOC112272575, LOC112272576, LOC112272578, LOC112272579, LOC112272580, LOC121847940, LOC125078046, LOC125078047, LOC125078048, LOC125078049, LOC126862074, LOC126862075, LOC126862076, LOC126862077, LOC126862078, LOC126862079, LOC126862080, LOC126862081, LOC126862082, LOC126862083, LOC126862084, LOC128772394, LOC129390675, LOC129390676, LOC130056707, LOC130056708, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC130056719, LOC130056720, LOC130056721, LOC130056722, LOC130056723, LOC130056724, LOC132090298, LOC132090299, LOC283683, MAGEL2, MIR4508, MIR4509-1, MIR4509-2, MIR4715, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PWRN3, PWRN4, SNHG14, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-45, SNORD115-46, SNORD115-47, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-30, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD64, SNRPN, SNURF, TRE-TTC2-2, TUBGCP5, UBE3A 1 0 0 0 0 1
ATP1A2, LOC126805890 0 0 0 0 1 1
ATP2B2 1 0 0 0 0 1
ATP6V0A1 0 0 1 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 0 0 0 1 1
B3GALT1, CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC122847309, LOC126806396, LOC126806397, LOC129388938, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, SCN1A, SCN2A, SCN7A, SCN9A, TTC21B, XIRP2 1 0 0 0 0 1
BLNK, ZNF518A 0 0 0 0 1 1
BOLA2, CORO1A 0 0 0 0 1 1
BTK, LOC130068496 0 0 0 0 1 1
C12orf57 0 0 0 0 1 1
C12orf57, RNU7-1 0 0 0 0 1 1
C1QA 0 0 0 0 1 1
C5orf58, LCP2 0 0 0 0 1 1
C6orf89, PPIL1 0 1 0 0 0 1
CACNA1A, LOC108663985 0 0 0 0 1 1
CACNA1A, LOC126862864 0 1 0 0 0 1
CACNA1A, LOC126862865 0 0 0 0 1 1
CACNA1B, LOC101928786 0 0 0 0 1 1
CACNA2D2, LOC127898564 0 0 0 0 1 1
CARD9, LOC130003002 0 0 0 0 1 1
CASP8, LOC128772255 0 0 0 0 1 1
CCDC122, LACC1 0 0 0 0 1 1
CCND2 1 0 0 0 0 1
CD247, LOC126805905 0 0 0 0 1 1
CD247, LOC129931851 0 0 0 0 1 1
CD27, LOC130007243 0 0 0 0 1 1
CD28 0 0 0 0 1 1
CD70, LOC130063317 0 0 0 0 1 1
CHD1, LOC126807465 1 0 0 0 0 1
CHD2, LOC126862230 0 0 0 0 1 1
CHRNA4, LOC100130587 0 0 0 0 1 1
CIB1, LOC130057907 0 0 0 0 1 1
CIB1, LOC130057908 0 0 0 0 1 1
CLN6 0 0 0 0 1 1
CLN8 0 0 0 0 1 1
CNKSR2 0 1 0 0 0 1
COPG1, MIR6826 0 0 0 0 1 1
COQ2, LOC112997540 0 0 0 0 1 1
CRELD1, IL17RC, LOC129936144 0 0 0 0 1 1
CSNK2B 0 1 0 0 0 1
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN2A, SCN3A, TTC21B 1 0 0 0 0 1
CTC1, LOC130060238, PFAS 0 0 0 0 1 1
CTLA4 0 0 0 0 1 1
CTPS1, LOC126805717 0 0 0 0 1 1
CTPS1, LOC129930292 0 0 0 0 1 1
CTSD 0 0 0 0 1 1
CXCR2 0 0 0 0 1 1
CYFIP2, NIPAL4-DT 0 0 1 0 0 1
DCLRE1B 0 0 0 0 1 1
DDX27 0 0 0 0 1 1
DNASE1, TRAP1 0 0 0 0 1 1
DNASE2 0 0 0 0 1 1
DOCK2, INSYN2B 0 0 0 0 1 1
ELF4 0 0 0 0 1 1
EPM2A, EPM2A-DT, LOC129997381 0 0 0 0 1 1
FA2H, LOC130059394 0 0 0 0 1 1
FADD 0 0 0 0 1 1
FANCI, POLG 0 0 0 0 1 1
FASLG 0 0 0 0 1 1
FBXO11, MSH6 0 0 0 0 1 1
FCHO1, LOC130063960 0 0 0 0 1 1
FGFR3 1 0 0 0 0 1
FTL 0 0 0 0 1 1
GABRB2 0 0 0 0 1 1
GOSR2, LOC126862578, LRRC37A2 0 0 0 0 1 1
GRIN2D, LOC130064857 0 1 0 0 0 1
HECW2 0 0 1 0 0 1
IARS2 0 1 0 0 0 1
IFNAR2, IFNAR2-IL10RB, IL10RB 0 0 0 0 1 1
IFNAR2-IL10RB, IL10RB, LOC130066558 0 0 0 0 1 1
IGF1 1 0 0 0 0 1
IGLL1 0 0 0 0 1 1
IKBKB, LOC130000299 0 0 0 0 1 1
IL12RB1, LOC130063972 0 0 0 0 1 1
IL17A 0 0 0 0 1 1
IL17RA, LOC130066893 0 0 0 0 1 1
IL18BP 0 0 0 0 1 1
IL21 0 0 0 0 1 1
IL22RA1, LOC122056794 0 0 0 0 1 1
IL2RG 0 0 0 0 1 1
IL7 0 0 0 0 1 1
IRF2BP2 0 0 0 0 1 1
IRF2BP2, LOC129932810 0 0 0 0 1 1
IRF2BP2, LOC129932812 0 0 0 0 1 1
ITPA, LOC130065322 0 0 0 0 1 1
KCNA5 0 0 0 0 1 1
KCNC1 1 0 0 0 0 1
KCNH1 0 0 1 0 0 1
KCTD7, LOC129998533 0 0 0 0 1 1
KIF1A 1 0 0 0 0 1
KMT2A, TTC36 0 0 0 0 1 1
KMT2D, LOC126861520 0 0 0 0 1 1
KRAS 0 0 0 0 1 1
LAMB2 0 0 0 0 1 1
LCK 0 0 0 0 1 1
LIG4 0 0 0 0 1 1
LOC101060445, RIGI 0 0 0 0 1 1
LOC109286563, TBX21 0 0 0 0 1 1
LOC112533672, UNC13D 0 0 0 0 1 1
LOC113788277, PLPBP 0 0 0 0 1 1
LOC121832795, UNC93B1 0 0 0 0 1 1
LOC126805612, PIK3CD 0 0 0 0 1 1
LOC126806063, LYST 0 0 0 0 1 1
LOC126806211, TTC7A 0 0 0 0 1 1
LOC126807094, PRDM8 0 0 0 0 1 1
LOC126859807, TNFAIP3 0 0 0 0 1 1
LOC126862065, TRAF3 0 0 0 0 1 1
LOC126862575, MAP3K14 0 0 0 0 1 1
LOC126863253, UBA1 0 0 0 0 1 1
LOC126863256, WDR45 0 0 0 0 1 1
LOC129930669, PGM1 0 0 0 0 1 1
LOC129933372, MPV17 1 0 0 0 0 1
LOC129933707, MSH6 0 0 0 0 1 1
LOC129933708, MSH6 0 0 0 0 1 1
LOC129935691 0 0 0 0 1 1
LOC129935748, SP110, SP140 0 0 0 0 1 1
LOC129993410, NEIL3 0 0 0 0 1 1
LOC129995145, LSM11 0 0 0 0 1 1
LOC130001628 0 0 0 0 1 1
LOC130001628, RIGI 0 0 0 0 1 1
LOC130002772, TOR1A 0 0 0 0 1 1
LOC130004025, SLC29A3 0 0 0 0 1 1
LOC130004599, NFKB2 0 0 0 0 1 1
LOC130007232, TNFRSF1A 0 0 0 0 1 1
LOC130009810, RNASEH2B 0 0 0 0 1 1
LOC130055495, NFKBIA 0 0 0 0 1 1
LOC130056750, NOP10 0 0 0 0 1 1
LOC130056800, RASGRP1 0 0 0 0 1 1
LOC130058352, TRAP1 0 0 0 0 1 1
LOC130058480, SOCS1 0 0 0 0 1 1
LOC130059894, RPA1 0 0 0 0 1 1
LOC130061784, TMC6 0 0 0 0 1 1
LOC130061793, TMC6, TMC8 0 0 0 0 1 1
LOC130065694, ZNF341 0 0 0 0 1 1
LOC132090427, LOC132090428, LOC132090429, LOC132090888, WWOX 1 0 0 0 0 1
LONP1 0 1 0 0 0 1
MALT1 0 0 0 0 1 1
MCM4 0 0 0 0 1 1
MECR 0 0 1 0 0 1
MEF2C 0 1 0 0 0 1
MIR6084, PINK1 0 0 0 0 1 1
MOCS1 0 0 0 0 1 1
MT-CYB 0 1 0 0 0 1
MT-ND3 0 1 0 0 0 1
MT-TY 0 1 0 0 0 1
NAXD 0 0 1 0 0 1
NDUFAF5 0 1 0 0 0 1
NHLRC1 0 0 0 0 1 1
NPRL3 0 0 0 0 1 1
NRAS 0 0 0 0 1 1
OGDH 0 1 0 0 0 1
OPA1 0 1 0 0 0 1
PDHA1 0 1 0 0 0 1
PDSS2 0 0 0 0 1 1
POLG, POLGARF 0 0 0 0 1 1
POLR3C 0 0 0 0 1 1
PPIL1 0 1 0 0 0 1
PPP3CA 1 0 0 0 0 1
RGS10 0 0 0 0 1 1
SLC6A8 0 0 0 0 1 1
SLC9A6 0 0 0 0 1 1
STAT2 0 0 0 0 1 1
SUOX 0 0 0 0 1 1
TBC1D24 0 0 0 0 1 1
TBX21 0 0 0 0 1 1
TERC 0 0 0 0 1 1
TGFB1 0 0 0 0 1 1
THAP1 0 0 0 0 1 1
TINF2 0 0 0 0 1 1
TK2 1 0 0 0 0 1
TLR7 0 0 0 0 1 1
TMC6, TMC8 0 0 0 0 1 1
UGDH 0 1 0 0 0 1
UNG 0 0 0 0 1 1
WDR45 0 1 0 0 0 1
ZMYND11 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 66
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 0 3 3441 3444
Severe myoclonic epilepsy in infancy 25 19 0 0 0 44
Developmental and epileptic encephalopathy 9 12 7 0 0 28
Epileptic encephalopathy 5 12 6 0 0 23
DICER1-related tumor predisposition 9 5 2 0 0 16
Encephalopathy due to GLUT1 deficiency 6 4 0 1 0 11
West syndrome 6 4 0 0 0 10
Retinoblastoma 6 2 1 0 0 9
Early-infantile developmental and epileptic encephalopathy 7 1 0 0 0 8
Developmental and epileptic encephalopathy, 1 1 3 3 0 0 7
Epilepsy with myoclonic atonic seizures 5 2 0 0 0 7
Epilepsy of infancy with migrating focal seizures 2 2 0 0 0 4
Lennox-Gastaut syndrome 3 1 0 0 0 4
15q11q13 microduplication syndrome 3 0 0 0 0 3
Focal epilepsy 0 2 1 0 0 3
Movement disorder 0 2 1 0 0 3
Combined oxidative phosphorylation defect type 21 1 0 1 0 0 2
Dystonia 9 1 1 0 0 0 2
Dystonic disorder 2 0 0 0 0 2
Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 0 0 2 0 0 2
Glycosylphosphatidylinositol biosynthesis defect 18 0 1 1 0 0 2
Infantile neuroaxonal dystrophy 0 0 2 0 0 2
Intellectual disability, autosomal dominant 5 1 1 0 0 0 2
MELAS syndrome 0 2 0 0 0 2
Neuronal ceroid lipofuscinosis 7 1 0 1 0 0 2
Pontocerebellar hypoplasia, type 14 0 2 0 0 0 2
Pyridoxine-dependent epilepsy 0 2 0 0 0 2
Aicardi-Goutieres syndrome 6 1 0 0 0 0 1
Alternating hemiplegia of childhood 0 1 0 0 0 1
Continuous spike and waves during slow sleep 0 1 0 0 0 1
Developmental and epileptic encephalopathy 104 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 11 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 13 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 4 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 7 1 0 0 0 0 1
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 0 1 0 0 1
Epilepsy 1 0 0 0 0 1
Epilepsy, early-onset, vitamin B6-dependent 0 0 1 0 0 1
Familial sleep-related hypermotor epilepsy 0 1 0 0 0 1
Febrile seizure (within the age range of 3 months to 6 years) 0 1 0 0 0 1
Focal epilepsy; Cortical dysplasia 0 1 0 0 0 1
Growth delay due to insulin-like growth factor type 1 deficiency 1 0 0 0 0 1
Intellectual disability, X-linked, syndromic, Houge type 0 1 0 0 0 1
Leigh syndrome 0 1 0 0 0 1
Malignant migrating partial seizures of infancy 1 0 0 0 0 1
Mitchell syndrome 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome, myopathic form 1 0 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 16 0 1 0 0 0 1
Mitochondrial disease 0 1 0 0 0 1
Myoclonic epilepsy in non-progressive encephalopathies 1 0 0 0 0 1
NAD(P)HX dehydratase deficiency 0 0 1 0 0 1
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis (NDEEMA) 0 1 0 0 0 1
Neurodegeneration with brain iron accumulation 5 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 0 1 0 0 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 1 0 0 0 0 1
Neuronal ceroid lipofuscinosis 1 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 2 1 0 0 0 0 1
Neuronal ceroid lipofuscinosis 5 0 0 1 0 0 1
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 0 1 0 0 0 1
Oxoglutaricaciduria 0 1 0 0 0 1
Progressive sclerosing poliodystrophy; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 0 1 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 1 0 0 0 1
Rett syndrome 1 0 0 0 0 1
Severe X-linked mitochondrial encephalomyopathy 0 0 1 0 0 1
West syndrome; Lennox-Gastaut syndrome 1 0 0 0 0 1

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