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:
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
50 27 14 4 2297 2392

Gene and significance breakdown #

Total genes and gene combinations: 443
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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
PRKCD 0 0 0 0 35 35
ERAP1 0 0 0 0 33 33
FAT4 0 0 0 0 29 29
NLRP3 0 0 0 0 28 28
DOCK2 0 0 0 0 26 26
LIG1 0 0 0 0 26 26
STXBP2 0 0 0 0 25 25
CARD11 0 0 0 0 24 24
TPP2 0 0 0 0 24 24
TTC7A 0 0 0 0 22 22
AP3D1 0 0 0 0 21 21
FCHO1 0 0 0 0 20 20
RIGI 0 0 0 0 20 20
CRACR2A 0 0 0 0 19 19
FERMT1 0 0 0 0 18 18
JAK1 0 0 0 0 18 18
LYST 0 0 0 0 18 18
MAN2B2 0 0 0 0 18 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
RORC 0 0 0 0 17 17
UNC13D 0 0 0 0 17 17
ADA2 0 0 0 0 16 16
EPG5 0 0 0 0 16 16
ITGB2 0 0 0 0 16 16
PI4KA 0 0 0 0 16 16
SYK 0 0 0 0 16 16
TFRC 0 0 0 0 16 16
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
RTEL1, RTEL1-TNFRSF6B 0 0 0 0 14 14
SLC29A3 0 0 0 0 14 14
ATM 0 0 0 0 13 13
IFIH1 0 0 0 0 13 13
MCM10 0 0 0 0 13 13
MSH6 0 0 0 0 13 13
AP3B1 0 0 0 0 12 12
IL7R 0 0 0 0 12 12
NEIL3 0 0 0 0 12 12
NOS2 0 0 0 0 12 12
TMC8 0 0 0 0 12 12
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
ADAR 0 0 0 0 10 10
CCBE1 0 0 0 0 10 10
FOXN1 0 0 0 0 10 10
IL2RB 0 0 0 0 10 10
IRF8 0 0 0 0 10 10
LOC102724058, SCN1A 7 3 0 0 0 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
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
ERBIN 0 0 0 0 9 9
IL2RA 0 0 0 0 9 9
IL6R 0 0 0 0 9 9
LCP2 0 0 0 0 9 9
PGM1 0 0 0 0 9 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
STAT1 0 0 0 0 9 9
TIRAP 0 0 0 0 9 9
TRIM22 0 0 0 0 9 9
ZAP70 0 0 0 0 9 9
​intergenic 0 0 0 0 8 8
ADAM17, IAH1 0 0 0 0 8 8
AIRE 0 0 0 0 8 8
AP1S3 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
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
SLC7A7 0 0 0 0 8 8
STING1 0 0 0 0 8 8
TCF3 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
CIB1 0 0 0 0 7 7
CR2 0 0 0 0 7 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
SCN1A 7 0 0 0 0 7
SH3BP2 0 0 0 0 7 7
STK4 0 0 0 0 7 7
TOP2B 0 0 0 0 7 7
ARHGEF1 0 0 0 0 6 6
CARD14, SGSH 0 0 0 0 6 6
DBR1 0 0 0 0 6 6
DNASE1L3 0 0 0 0 6 6
FAAP24 0 0 0 0 6 6
FNIP1 0 0 0 0 6 6
IKBKB 0 0 0 0 6 6
INO80 0 0 0 0 6 6
ITK 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
PIK3CD 0 0 0 0 6 6
PRF1 0 0 0 0 6 6
RPA1 0 0 0 0 6 6
SP110, SP140 0 0 0 0 6 6
STIM1 0 0 0 0 6 6
TOM1 0 0 0 0 6 6
AICDA 0 0 0 0 5 5
CARD9 0 0 0 0 5 5
CYBC1 0 0 0 0 5 5
FAS 0 0 0 0 5 5
GATA2 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
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
PNP 0 0 0 0 5 5
PSMB9 0 0 0 0 5 5
RASGRP1 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
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
CASP10 0 0 0 0 4 4
CD27 0 0 0 0 4 4
DCLRE1C 0 0 0 0 4 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
KDM6A 0 0 0 0 4 4
OTULIN 0 0 0 0 4 4
PARN 0 0 0 0 4 4
POLR3A 0 0 0 0 4 4
PSMB4 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
SLC2A1 3 0 0 1 0 4
STAT3 0 0 0 0 4 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
USP18 0 0 0 0 4 4
ACD 0 0 0 0 3 3
ACP5 0 0 0 0 3 3
BTK 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
CDKL5 1 2 0 0 0 3
CHUK 0 0 0 0 3 3
CXCR4 0 0 0 0 3 3
DEPDC5 0 1 1 1 0 3
DIAPH1 0 0 0 0 3 3
FCGR3A 0 0 0 0 3 3
FOXP3 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
IRAK4 0 0 0 0 3 3
KCNQ2 1 1 0 1 0 3
LOC126862264, MEFV 0 0 0 0 3 3
NCF2 0 0 0 0 3 3
NME1, NME1-NME2 0 0 0 0 3 3
PSMG2 0 0 0 0 3 3
RNF31 0 0 0 0 3 3
RUNX3 0 0 0 0 3 3
SCN8A 0 3 0 0 0 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
UBA1 0 0 0 0 3 3
UNC93B1 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
ALDH7A1 0 0 2 0 0 2
ALPI 0 0 0 0 2 2
ARPC1B 0 0 0 0 2 2
ATG4A 0 0 0 0 2 2
BCL11B 0 0 0 0 2 2
C4B 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
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
DOCK8, LOC126860552 0 0 0 0 2 2
DOCK8, LOC130001435 0 0 0 0 2 2
ERAP1, LOC126807458 0 0 0 0 2 2
GABRA1 0 1 0 1 0 2
GCH1 2 0 0 0 0 2
GIMAP6 0 0 0 0 2 2
GINS1 0 0 0 0 2 2
GRIN1 1 1 0 0 0 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
KMT2A 0 0 0 0 2 2
LOC106029312, NCF1 0 0 0 0 2 2
LOC121815964, NFKB2 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
MFSD8 1 0 1 0 0 2
ORAI1 0 0 0 0 2 2
PCDH19 0 1 1 0 0 2
PLA2G6 0 0 2 0 0 2
POLA1 0 0 0 0 2 2
POMP 0 0 0 0 2 2
PSMA3 0 0 0 0 2 2
RAB27A 0 0 0 0 2 2
RAG1 0 0 0 0 2 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
SCN1B 1 1 0 0 0 2
SCN2A 1 1 0 0 0 2
SP110 0 0 0 0 2 2
STXBP1 1 1 0 0 0 2
SYNGAP1 1 1 0 0 0 2
TP53, WRAP53 0 0 0 0 2 2
XIAP 0 0 0 0 2 2
ACTA2, FAS, LOC130004293 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
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
APTX 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
ATP1A3 0 1 0 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
CACNA1A 0 0 1 0 0 1
CARD9, LOC130003002 0 0 0 0 1 1
CASD1, SGCE 0 1 0 0 0 1
CASP8, LOC128772255 0 0 0 0 1 1
CCDC122, LACC1 0 0 0 0 1 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
CHD2 1 0 0 0 0 1
CIB1, LOC130057907 0 0 0 0 1 1
CIB1, LOC130057908 0 0 0 0 1 1
CLN5 0 0 1 0 0 1
COPG1, MIR6826 0 0 0 0 1 1
CRELD1, IL17RC, LOC129936144 0 0 0 0 1 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
CXCR2 0 0 0 0 1 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
DNM1 1 0 0 0 0 1
DOCK2, INSYN2B 0 0 0 0 1 1
ELF4 0 0 0 0 1 1
FADD 0 0 0 0 1 1
FASLG 0 0 0 0 1 1
FCHO1, LOC130063960 0 0 0 0 1 1
GABRB3 0 0 1 0 0 1
GNAO1 0 1 0 0 0 1
HBA-LCR, NPRL3 0 0 1 0 0 1
IFNAR2, IFNAR2-IL10RB, IL10RB 0 0 0 0 1 1
IFNAR2-IL10RB, IL10RB, LOC130066558 0 0 0 0 1 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
KCNA1 0 1 0 0 0 1
KCNA5 0 0 0 0 1 1
KMT2A, TTC36 0 0 0 0 1 1
KMT2D, LOC126861520 0 0 0 0 1 1
KRAS 0 0 0 0 1 1
LCK 0 0 0 0 1 1
LIG4 0 0 0 0 1 1
LOC109286563, TBX21 0 0 0 0 1 1
LOC112533672, UNC13D 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
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
LOC129930669, PGM1 0 0 0 0 1 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, RIGI 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
MALT1 0 0 0 0 1 1
MCM4 0 0 0 0 1 1
MECP2 1 0 0 0 0 1
MT-CYB 0 1 0 0 0 1
NRAS 0 0 0 0 1 1
PDHA1 1 0 0 0 0 1
PIGA 0 1 0 0 0 1
POLR3C 0 0 0 0 1 1
PPP3CA 1 0 0 0 0 1
RGS10 0 0 0 0 1 1
SLC12A5 0 0 1 0 0 1
SMC1A 1 0 0 0 0 1
STAT2 0 0 0 0 1 1
STX1B 0 1 0 0 0 1
TBX21 0 0 0 0 1 1
TERC 0 0 0 0 1 1
TGFB1 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
TPP1 1 0 0 0 0 1
UGDH 0 1 0 0 0 1
UNG 0 0 0 0 1 1
WRAP53 0 0 0 0 1 1
WWOX 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 33
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 0 3 2297 2300
Epileptic encephalopathy 3 10 3 0 0 16
Severe myoclonic epilepsy in infancy 14 0 0 0 0 14
West syndrome 6 4 0 0 0 10
Retinoblastoma 6 2 1 0 0 9
Developmental and epileptic encephalopathy, 1 1 3 3 0 0 7
15q11q13 microduplication syndrome 3 0 0 0 0 3
Movement disorder 0 2 1 0 0 3
Dystonic disorder 2 0 0 0 0 2
Epilepsy of infancy with migrating focal seizures 1 1 0 0 0 2
Infantile neuroaxonal dystrophy 0 0 2 0 0 2
Neuronal ceroid lipofuscinosis 7 1 0 1 0 0 2
SYNGAP1-related developmental and epileptic encephalopathy 1 1 0 0 0 2
Alternating hemiplegia of childhood 0 1 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 0 0 1 0 0 1
Continuous spike and waves during slow sleep 0 1 0 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 9 1 0 0 0 0 1
Encephalopathy due to GLUT1 deficiency 0 0 0 1 0 1
Epilepsy 1 0 0 0 0 1
Focal epilepsy 0 0 1 0 0 1
Intellectual disability, autosomal dominant 8 1 0 0 0 0 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 1 0 0 0 1
Lennox-Gastaut syndrome 1 0 0 0 0 1
Malignant migrating partial seizures of infancy 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome, myopathic form 1 0 0 0 0 1
Myoclonic-astatic epilepsy 1 0 0 0 0 1
Neuronal ceroid lipofuscinosis 2 1 0 0 0 0 1
Neuronal ceroid lipofuscinosis 5 0 0 1 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 0 1
Rett syndrome 1 0 0 0 0 1
West syndrome; Lennox-Gastaut syndrome 1 0 0 0 0 1

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