Variants from AiLife Diagnostics, AiLife Diagnostics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

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
246	485	1853	0	0	2584

Gene and significance breakdown #

Total genes and gene combinations: 851

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
TTN	10	43	103	156
RYR2	0	2	67	69
SCN5A	4	7	46	57
FBN2	0	1	47	48
MYH6	0	0	46	46
LDLR	10	15	16	41
KCNQ1	9	8	22	39
MYBPC3	11	5	20	36
GAA	14	14	3	31
MYH7	2	2	25	29
MYH11	0	3	24	27
FBN1	3	1	21	25
MIB1	0	11	14	25
KCNH2	0	3	21	24
ANK2	0	3	19	22
CACNA1C	0	0	20	20
DSP	1	1	17	19
DSG2	2	4	11	17
RYR1	5	9	3	17
COL5A2	0	0	16	16
NOTCH1	0	1	15	16
PKP2	6	3	7	16
TRPM4	0	0	16	16
AKAP9	0	0	15	15
CFTR	10	4	1	15
LAMA4	0	0	15	15
COL5A1	0	0	14	14
DES	0	4	10	14
TNNT2	0	2	12	14
KCNA5	0	1	12	13
LMNA	3	3	7	13
MYLK	0	6	7	13
MYPN	0	2	11	13
ABCA7	0	8	4	12
CACNB2	0	0	12	12
CSRP3	0	1	11	12
HCN4	0	0	12	12
MYO6	0	1	11	12
POLG	2	6	4	12
ABCC9	0	0	11	11
ACTN2	0	2	9	11
TNNI3	2	2	7	11
ATP7B	3	7	0	10
JAG1	0	0	10	10
MAP2K2	0	0	10	10
MYH11, NDE1	0	1	9	10
TRDN	2	7	1	10
APOB	2	0	7	9
CBL	0	0	9	9
DCTN1	0	0	9	9
DSC2	0	6	3	9
GBA1, LOC106627981	2	5	2	9
KCNJ5	0	0	9	9
SCN1B	0	3	6	9
APOA5	1	5	2	8
CRYAB	0	2	6	8
KCNE1	1	1	6	8
LMF1	0	8	0	8
NEXN	0	1	7	8
PTPN11	4	2	2	8
SNTA1	0	2	6	8
VCL	0	2	6	8
ATM	2	3	2	7
CREB3L3	0	5	2	7
DTNA	0	0	7	7
GCKR	0	1	6	7
LPL	0	5	2	7
NKX2-5	0	0	7	7
NOTCH3	0	0	7	7
NPC1	2	5	0	7
PRKN	4	2	1	7
SOS1	0	0	7	7
TNNC1	0	0	7	7
ABCG8	1	4	1	6
ACTA2	0	0	6	6
ATP1A3	0	1	5	6
COL5A1, LOC101448202	0	0	6	6
DMD	0	1	5	6
EYA4, TARID	0	0	6	6
KCND3	0	0	6	6
LOC114827851, MYH6	0	0	6	6
LOC126861898, MYH7	1	2	3	6
PCSK9	0	0	6	6
SMAD3	0	0	6	6
TGFBR2	0	0	6	6
ABCC9, KCNJ8	0	0	5	5
ACTC1, GJD2-DT	0	2	3	5
BRAF	0	1	4	5
BRCA1	4	0	1	5
BRCA2	2	2	1	5
COL3A1	0	0	5	5
DNAH5	3	1	1	5
FLNC	0	0	5	5
GPD1L	0	0	5	5
HSPG2	0	0	5	5
JUP	0	1	4	5
KCNJ2	0	0	5	5
LDB3	0	0	5	5
LOC110121269, SCN5A	1	1	3	5
LOC126861897, MHRT, MYH7	0	0	5	5
MUTYH	3	1	1	5
MYL2	0	2	3	5
MYOZ2	0	0	5	5
NPHP4	0	0	5	5
PLA2G6	0	2	3	5
PSEN2	0	0	5	5
RELN	0	1	4	5
SDHA	2	1	2	5
TGFB3	0	0	5	5
TGFBR1	0	0	5	5
USH2A	1	2	2	5
ABCG5, DYNC2LI1	1	3	0	4
ATP13A2	1	2	1	4
C3	0	1	3	4
CDH23	0	0	4	4
CEL	0	0	4	4
DCHS1	0	1	3	4
DNAH1	0	1	3	4
ELN	0	3	1	4
JPH2	0	1	3	4
LDLRAP1	2	2	0	4
LOC126861896, MYH6	0	0	4	4
MYLK2	0	0	4	4
PCDH15	0	4	0	4
POLA1	0	0	4	4
PTPRQ	0	0	4	4
RBM20	1	1	2	4
SBF1	0	0	4	4
SCN10A	0	0	4	4
SCN3B	0	0	4	4
SMAD4	0	0	4	4
SPG11	2	1	1	4
TMEM43	0	0	4	4
TPM1	0	1	3	4
ABCC8	0	0	3	3
ABL1	2	0	1	3
AGL	3	0	0	3
APC	0	1	2	3
APOE	0	1	2	3
APP	0	1	2	3
ASNS, CZ1P-ASNS	0	0	3	3
ATM, C11orf65	1	1	1	3
BLM	0	2	1	3
CALR3	0	0	3	3
CAV3, OXTR	0	0	3	3
CDKN2A	0	3	0	3
CHD7	1	0	2	3
CHEK2	2	0	1	3
COL11A1	0	0	3	3
COL6A1	0	1	2	3
CSF1R	0	1	2	3
CUBN	0	2	1	3
DPP6	0	0	3	3
DUOX2	0	1	2	3
ERCC6L2	0	2	1	3
FBXO7	0	3	0	3
FGA	1	1	1	3
FLNA	0	0	3	3
FUS	0	1	2	3
GLA, RPL36A-HNRNPH2	0	2	1	3
GRN	1	0	2	3
HBB, LOC106099062, LOC107133510	2	1	0	3
HEPHL1	0	1	2	3
HFE	2	1	0	3
HNF4A	0	0	3	3
ILK, TAF10	0	0	3	3
INTS1	0	0	3	3
KRAS	0	1	2	3
LOC101927055, TTN	0	1	2	3
LOC114827850, MYL2	1	1	1	3
LOC126806067, RYR2	0	0	3	3
LOC126806422, TTN	0	0	3	3
LRP4	0	0	3	3
MAP2K1	0	0	3	3
MYH3	0	1	2	3
MYL3	0	1	2	3
NEB	0	0	3	3
PALB2	1	1	1	3
POLG, POLGARF	0	3	0	3
PROC	1	1	1	3
RET	1	0	2	3
RMRP	2	0	1	3
RNF213	0	0	3	3
SETX	0	1	2	3
SGCD	0	1	2	3
SLC26A4	1	0	2	3
TBX20	0	0	3	3
TP63	1	1	1	3
VPS13B	0	0	3	3
ABCA4	1	1	0	2
ACADSB	0	1	1	2
ADAMTS13	0	1	1	2
AGXT	0	1	1	2
AHI1	0	1	1	2
AIRE	2	0	0	2
ALMS1	0	1	1	2
ANK3	0	0	2	2
AP5Z1	0	0	2	2
ARID1A	0	0	2	2
ASPM	0	1	1	2
ATP7A	0	1	1	2
ATRX	0	0	2	2
BMPR2	0	0	2	2
BNC2	0	0	2	2
BRCA1, LOC126862571	1	0	1	2
BRIP1	0	1	1	2
BTK	0	0	2	2
C6	0	2	0	2
CACNA1S	0	0	2	2
CAPN15	0	0	2	2
CASQ2	1	0	1	2
CAV1	0	0	2	2
CAV3	0	0	2	2
CCDC40	2	0	0	2
CCDC88C	0	0	2	2
CEP135	0	1	1	2
CEP290	0	0	2	2
CHD3	0	0	2	2
COL4A2	0	0	2	2
COMP	0	1	1	2
COQ8B	0	0	2	2
CREBBP	0	0	2	2
CRELD1	0	0	2	2
CTBP1	0	0	2	2
CTSC	0	0	2	2
CYP21A2, LOC106780800	2	0	0	2
DDX3X	0	0	2	2
DNAH10	0	0	2	2
DNAH8	0	0	2	2
DNASE1	0	0	2	2
DNMT1	0	0	2	2
DOCK8	0	1	1	2
DSG2, LOC130062340	1	0	1	2
EP300	0	0	2	2
FBN1, LOC113939944	0	0	2	2
FKTN	0	2	0	2
FOXP3	0	0	2	2
G6PD	1	0	1	2
GATA4	0	0	2	2
GBA1	2	0	0	2
GCH1	0	0	2	2
GCK	0	2	0	2
GNAS	0	1	1	2
GPC4	0	0	2	2
GUCY2C	0	0	2	2
H6PD	0	0	2	2
HCN4, LOC105370890, LOC126862173	0	0	2	2
HGSNAT	1	0	1	2
HNF1A	0	0	2	2
HRAS, LRRC56	0	0	2	2
HYDIN	0	2	0	2
IFIH1	0	1	1	2
IFT140	0	0	2	2
INPPL1	0	0	2	2
KAT8	0	0	2	2
KCNB1	0	2	0	2
KCNE3	0	0	2	2
KDM3B	1	0	1	2
KIF15	0	0	2	2
KMT2A	1	0	1	2
KMT2D	0	1	1	2
LAMA3	0	0	2	2
LOC102724058, SCN1A	1	0	1	2
LOC106694316, MPO	0	2	0	2
LOC126806068, RYR2	0	0	2	2
LOC126806420, TTN	0	2	0	2
LOC126806423, TTN	0	0	2	2
LOC126806428, TTN	0	1	1	2
LRBA	0	0	2	2
LRRK2	0	0	2	2
MAPT	0	0	2	2
MED12	0	0	2	2
MED13L	0	0	2	2
MHRT, MYH7	0	0	2	2
MITF	1	0	1	2
MLC1	1	0	1	2
MME	0	0	2	2
MSH6	1	0	1	2
MUC5B	0	0	2	2
MYH9	1	0	1	2
MYOM1	0	0	2	2
NBAS	0	0	2	2
NF1	0	1	1	2
NHEJ1	0	1	1	2
NLRC4	0	0	2	2
NOD2	0	0	2	2
NSD1	0	2	0	2
NSD2	1	1	0	2
PAH	2	0	0	2
PANK2	0	0	2	2
PGAP1	0	1	1	2
PHKA1	0	0	2	2
PHKB	0	0	2	2
PIEZO1	0	0	2	2
PLCG2	0	0	2	2
PLXNA1	0	0	2	2
PMS2	1	0	1	2
POLR2A	0	0	2	2
POMC	0	0	2	2
PRKAR1A	0	0	2	2
PRKG1	0	0	2	2
RAF1	0	0	2	2
RECQL4	0	0	2	2
RERE	0	0	2	2
SCN1A	1	0	1	2
SCN2A	1	1	0	2
SCN2B	0	0	2	2
SCN4B	0	0	2	2
SELENON	1	1	0	2
SERPINA1	2	0	0	2
SERPINC1	0	1	1	2
SETD5	1	0	1	2
SKI	0	1	1	2
SLC25A22	0	0	2	2
SLC2A10	0	2	0	2
SLCO2A1	0	1	1	2
SLX4	0	1	1	2
SMARCA2	0	0	2	2
SMPD4	0	0	2	2
SNCA	0	0	2	2
SOD1	0	0	2	2
SPG7	0	0	2	2
SRCAP	0	0	2	2
STAT5B	0	0	2	2
SUMF2	0	0	2	2
TBCEL-TECTA, TECTA	0	0	2	2
TCIRG1	1	0	1	2
TCTN1	0	0	2	2
THOC2	0	0	2	2
TNFRSF13B	2	0	0	2
TNS2	0	0	2	2
TOGARAM1	0	0	2	2
TSC1	0	0	2	2
TSC2	0	0	2	2
TTC21B	0	0	2	2
TTR	2	0	0	2
UBR1	0	0	2	2
UNC80	0	0	2	2
VPS13C	0	2	0	2
WASHC5	0	0	2	2
XPNPEP3	0	1	1	2
ZMYND10	0	2	0	2
A2ML1	0	0	1	1
ABCA2	0	0	1	1
ABCA2, LOC126860796	0	0	1	1
ABCA3	0	1	0	1
ABCA5	0	0	1	1
ABCG5, ABCG8	0	1	0	1
ACAD9	0	0	1	1
ACP5	0	1	0	1
ADA	0	0	1	1
ADA2	0	1	0	1
ADAMTS20	0	0	1	1
ADSL	1	0	0	1
AHDC1	0	0	1	1
AIFM1, RAB33A	0	1	0	1
AK2	0	0	1	1
ALB	0	0	1	1
ALDH18A1	0	1	0	1
ALG12	0	0	1	1
ALG3	0	0	1	1
ALMS1, LOC126806252	0	0	1	1
ANK1, LOC130000286	0	0	1	1
ANKRD1	0	0	1	1
ANKRD11	0	0	1	1
AP4B1, PTPN22	0	0	1	1
AP4M1	0	1	0	1
APOB, LOC106560211	0	0	1	1
APOM	0	0	1	1
AR	0	1	0	1
ARHGEF18	0	0	1	1
ARHGEF9	0	1	0	1
ARID1B	0	0	1	1
ASH1L	0	1	0	1
ASXL3	0	0	1	1
ATP1A2	0	0	1	1
ATP6AP2	0	0	1	1
ATP6V1B2	0	0	1	1
ATR	0	1	0	1
ATRIP, ATRIP-TREX1, TREX1	1	0	0	1
BBS10	1	0	0	1
BCL11B	0	0	1	1
BCORL1	0	0	1	1
BIVM-ERCC5, ERCC5, LOC126861834	1	0	0	1
BMP2	0	0	1	1
BMP4	0	0	1	1
BMPR1B	0	0	1	1
BPTF	0	0	1	1
BRAF, LOC126860202	0	0	1	1
BRAT1	0	0	1	1
BRPF1	1	0	0	1
BRWD3	0	0	1	1
BTNL2, TSBP1	0	0	1	1
C17orf107, CHRNE	0	1	0	1
C2	0	1	0	1
C8B	0	1	0	1
C9	0	1	0	1
C9orf72	0	0	1	1
CACNA1E	0	0	1	1
CACNA1F	0	0	1	1
CACNA1H	0	1	0	1
CALM1	0	0	1	1
CAPN1	0	1	0	1
CAPN5	0	0	1	1
CARD14	0	0	1	1
CARMIL2	0	1	0	1
CASP10	0	0	1	1
CASR	0	0	1	1
CAST, LOC101929710, PCSK1	0	0	1	1
CCDC39	0	1	0	1
CCDC40, GAA	1	0	0	1
CCDST, FLG	0	0	1	1
CCS	0	0	1	1
CD99L2	0	0	1	1
CDC42	0	0	1	1
CDC7	0	0	1	1
CDH1	0	0	1	1
CDH8	0	0	1	1
CEP85L, PLN	0	0	1	1
CFB	0	0	1	1
CFHR1	0	0	1	1
CFTR, LOC113633877	1	0	0	1
CHAT	0	0	1	1
CHD1	0	0	1	1
CHD5	0	0	1	1
CHD8	0	0	1	1
CIC	0	0	1	1
CLIC2	0	0	1	1
CNNM2	0	0	1	1
CNOT1	0	0	1	1
COG1	0	1	0	1
COG6	0	1	0	1
COL11A2	0	0	1	1
COL12A1, LOC126859712	0	0	1	1
COL13A1	0	0	1	1
COL27A1	0	0	1	1
COL4A1	0	0	1	1
COL4A3, MFF-DT	0	1	0	1
COL4A4	0	0	1	1
COL4A5	0	0	1	1
COL6A2	0	1	0	1
COL6A3	0	0	1	1
COL9A1	0	0	1	1
COLEC10	0	0	1	1
CR2	0	1	0	1
CSF3R	0	1	0	1
CSNK1G1	0	0	1	1
CSPP1	0	0	1	1
CTNNB1	0	0	1	1
CTPS1	1	0	0	1
CUX2	0	0	1	1
CYB5R4, RIPPLY2-CYB5R4	0	0	1	1
CYBB	0	0	1	1
CYLD, NOD2	1	0	0	1
CYP21A2, LOC106780800, TNXB	1	0	0	1
DDOST	0	0	1	1
DDX59	0	0	1	1
DDX6	0	0	1	1
DEPDC5	0	0	1	1
DHPS	0	1	0	1
DHX30	0	0	1	1
DHX37	0	0	1	1
DIAPH3	0	0	1	1
DIPK1A, RPL5	0	0	1	1
DLGAP4, MYL9	0	0	1	1
DMXL2	0	0	1	1
DNAJC21	0	1	0	1
DNM2, LOC130063529, MIR638	0	0	1	1
DOCK9	0	0	1	1
DRD4	0	0	1	1
DYNC2I2, LOC126860772	0	0	1	1
DYRK1A	0	1	0	1
EBF3	0	0	1	1
ECEL1	1	0	0	1
ECHS1	1	0	0	1
EDA	0	1	0	1
EFEMP1	0	0	1	1
EFHC1	0	0	1	1
EFTUD2	0	1	0	1
EHMT1	0	0	1	1
EIF2B2	1	0	0	1
ENG	0	1	0	1
EP400	0	0	1	1
EPG5	0	1	0	1
ERCC6	0	0	1	1
ETV6	0	0	1	1
EVC2	0	0	1	1
EVC2, LOC126806961	1	0	0	1
EYA1	0	1	0	1
EYA4, LOC126859796, TARID	0	0	1	1
F8	1	0	0	1
FAM20A, PRKAR1A	0	1	0	1
FAM50A	0	0	1	1
FANCA	0	1	0	1
FANCE, LOC129996245	0	0	1	1
FANCI	1	0	0	1
FANCI, POLG	0	0	1	1
FANCM, LOC130055524	0	0	1	1
FAS	0	0	1	1
FAT2	0	0	1	1
FAT4	0	0	1	1
FBN2, LOC126807501	0	0	1	1
FGFR2	0	1	0	1
FHL1	0	0	1	1
FKBP14	1	0	0	1
FKRP	1	0	0	1
FLNB	0	0	1	1
FLRT3, MACROD2	0	0	1	1
FMO3, LOC126805916	1	0	0	1
FN1	0	0	1	1
FREM1	0	0	1	1
FTSJ1	0	0	1	1
FXN	0	0	1	1
GAMT	0	0	1	1
GAMT, LOC130062945	0	0	1	1
GANAB	0	0	1	1
GATA2	0	0	1	1
GBE1	0	0	1	1
GCH1, LOC130055692	0	0	1	1
GH-LCR, SCN4A	0	0	1	1
GIGYF2	0	0	1	1
GJA5	0	0	1	1
GLI2	0	0	1	1
GLI3	0	1	0	1
GNAO1	0	0	1	1
GNE	0	0	1	1
GPIHBP1	1	0	0	1
GPR179	0	1	0	1
GREB1L	0	0	1	1
GRIN2B	1	0	0	1
GRIN2D	0	0	1	1
GRM1	0	0	1	1
GYS2	0	1	0	1
H19, HOTS, MRPL23	0	0	1	1
HAX1	1	0	0	1
HCN1	0	0	1	1
HDAC8	0	0	1	1
HEXA	0	1	0	1
HIBCH	0	0	1	1
HIVEP1	0	0	1	1
HK1	0	1	0	1
HNF1B	0	0	1	1
HPSE2	0	1	0	1
HSD11B1	0	0	1	1
HSD3B7	0	0	1	1
HSPG2, LDLRAD2	0	0	1	1
HTR2A	0	0	1	1
HUWE1	0	0	1	1
IFNGR1	0	0	1	1
IFT172	0	0	1	1
IFT172, LOC126806174	0	0	1	1
IGSF22	0	0	1	1
IGSF3	0	1	0	1
IKZF1	0	0	1	1
IKZF1, LOC129998437	0	0	1	1
IKZF3	0	0	1	1
IL12RB1	1	0	0	1
IL17RD	0	0	1	1
IL1RAPL1	1	0	0	1
IL1RN	0	0	1	1
IL20	0	0	1	1
IL21R	0	0	1	1
IL2RA, LOC130003232	0	0	1	1
IL36RN	0	1	0	1
INF2, LOC130056630	0	0	1	1
IQSEC2	0	0	1	1
IRF5	0	0	1	1
IRS4	0	1	0	1
ITCH	0	0	1	1
ITGB4	0	0	1	1
ITPR1	0	1	0	1
JAGN1	0	0	1	1
JAK1	0	0	1	1
KANK1	0	0	1	1
KATNIP	0	0	1	1
KCNE2, LOC105372791	0	0	1	1
KCNH6	0	0	1	1
KCNMA1	0	0	1	1
KCNQ2	1	0	0	1
KDM1A	0	0	1	1
KDM6A	0	0	1	1
KIDINS220	0	1	0	1
KIF14	0	1	0	1
KIF21A	0	0	1	1
KIF4A	0	0	1	1
KIF7	0	1	0	1
KMT2E	0	0	1	1
KRIT1	0	0	1	1
LAMA1	0	1	0	1
LAMA5	0	0	1	1
LAS1L	0	0	1	1
LDLRAP1, LOC129929773	1	0	0	1
LEMD3	0	1	0	1
LHCGR, STON1-GTF2A1L	0	0	1	1
LIPC	0	0	1	1
LMNA, LOC126805877	0	0	1	1
LOC107303340, VHL	0	0	1	1
LOC108903148, OPTN	0	0	1	1
LOC110011216, PHOX2B	1	0	0	1
LOC126806316, PAX8	0	1	0	1
LOC126806421, TTN	0	0	1	1
LOC126806430, TTN	0	0	1	1
LOC126806431, TTN	0	1	0	1
LOC126806432, TTN	0	0	1	1
LOC126806433, TTN	0	0	1	1
LOC126807124, MTTP	0	0	1	1
LOC126807125, SLC39A8	0	0	1	1
LOC126859651, VARS1	0	0	1	1
LOC126860498, WASHC5	0	0	1	1
LOC126861356, SCN4B	0	0	1	1
LOC126863212, OFD1	0	0	1	1
LOC129391106, RYR1	0	0	1	1
LOC129935026, TBR1	0	0	1	1
LOC129999660, PRKAG2	0	0	1	1
LOC130057222, TPM1	0	0	1	1
LOC130064467, SPTBN4	0	0	1	1
LOC130068202, RP2	0	0	1	1
LOX, SRFBP1	0	0	1	1
LPIN2	0	0	1	1
LPO, MPO	0	1	0	1
LRP5	0	0	1	1
LTBP2	0	1	0	1
MACF1	0	0	1	1
MAF	0	1	0	1
MAN1B1	0	0	1	1
MAP3K15, PDHA1	0	0	1	1
MAPK8IP3	0	0	1	1
MAPKBP1	0	0	1	1
MARS1	0	0	1	1
MASP2	0	1	0	1
MASP2, TARDBP	0	1	0	1
MAX	0	0	1	1
MCFD2, TTC7A	0	0	1	1
MED13	0	0	1	1
MEFV	0	1	0	1
MID1	0	0	1	1
MLH1	0	1	0	1
MMAB	1	0	0	1
MSH2	0	0	1	1
MSN	0	0	1	1
MSX1	0	0	1	1
MSX2	0	0	1	1
MTM1	0	0	1	1
MTOR	0	0	1	1
MTRR	0	0	1	1
MTTP	0	0	1	1
NALCN	0	0	1	1
NBEA	0	0	1	1
NCAPH2, SCO2	1	0	0	1
NDP	0	0	1	1
NDUFS7	0	0	1	1
NEB, RIF1	0	0	1	1
NEFH	0	0	1	1
NEXMIF	0	0	1	1
NFE2L2	0	0	1	1
NFKB1	0	0	1	1
NIPBL	0	0	1	1
NODAL	0	0	1	1
NOS3	0	0	1	1
NPHP3, NPHP3-ACAD11	1	0	0	1
NRAS	1	0	0	1
NRL	0	0	1	1
NRXN1	0	1	0	1
NTRK2	0	0	1	1
NUP93	0	0	1	1
NXF5	0	0	1	1
OBSL1	0	1	0	1
OCRL	0	0	1	1
OGG1	0	0	1	1
OPTN	1	0	0	1
OTOF	1	0	0	1
OTOG	1	0	0	1
OXCT1	0	1	0	1
PACS2	1	0	0	1
PARK7	1	0	0	1
PARN	0	1	0	1
PAX2	0	1	0	1
PCLO	0	0	1	1
PDGFB	0	0	1	1
PDZD9, UQCRC2	0	1	0	1
PEX2	1	0	0	1
PGM3	0	1	0	1
PHF6	0	0	1	1
PHOX2B	0	0	1	1
PIGL	0	0	1	1
PIGT	0	1	0	1
PIK3CA	0	0	1	1
PIK3R1	0	0	1	1
PINK1	1	0	0	1
PKD1	0	0	1	1
PKD1L1	0	0	1	1
PLCE1	0	0	1	1
PLEC	0	0	1	1
PLEKHG2	0	0	1	1
PLG	0	1	0	1
PLK4	0	1	0	1
PLP1, RAB9B	0	0	1	1
PLXNA3	0	0	1	1
PLXNB1	0	0	1	1
PMPCB	0	0	1	1
POLE	0	0	1	1
POMK	0	0	1	1
PON1	0	0	1	1
PPARG	0	0	1	1
PPP1R3A	0	0	1	1
PPP2R1A	0	0	1	1
PPP2R5D	1	0	0	1
PRF1	0	1	0	1
PRKAG2	0	0	1	1
PROK2	0	0	1	1
PROKR2	0	0	1	1
PROM1	0	0	1	1
PRP4K	0	0	1	1
PRPF8	0	1	0	1
PSEN1	0	0	1	1
PSMB9	0	0	1	1
PTCH1	0	0	1	1
PTCH2	0	0	1	1
PTPN23	0	0	1	1
PTPN3	0	0	1	1
PTPRS	0	0	1	1
RAB10	0	0	1	1
RAD51D, RAD51L3-RFFL	0	1	0	1
RAG1	0	1	0	1
RANGRF, SLC25A35	0	0	1	1
RBMX	0	0	1	1
RCBTB1	0	1	0	1
RDX	0	1	0	1
RIF1	0	0	1	1
RLIM	0	0	1	1
RNASEH2B	0	1	0	1
RNF13	0	0	1	1
ROBO4	0	1	0	1
ROR2	0	0	1	1
RPS6KA3	0	1	0	1
RPS7	0	0	1	1
RRAS	0	0	1	1
RREB1	0	0	1	1
RSPH1	0	1	0	1
RTEL1, RTEL1-TNFRSF6B	0	0	1	1
RUBCN	0	0	1	1
RUVBL1, SEC61A1	0	0	1	1
SALL1	0	0	1	1
SALL2	0	0	1	1
SAMD9	0	0	1	1
SAMHD1	0	1	0	1
SARS2	0	1	0	1
SCN11A	0	0	1	1
SCN4A	0	0	1	1
SCN7A	0	0	1	1
SCN8A	0	1	0	1
SCN9A	0	0	1	1
SCNN1B	0	0	1	1
SCNN1G	0	0	1	1
SDHD	0	0	1	1
SETBP1	0	1	0	1
SETD1A	0	0	1	1
SETD2	0	0	1	1
SF3B3	0	0	1	1
SFTPB	0	0	1	1
SGCB	1	0	0	1
SH3PXD2B	0	0	1	1
SHANK3	0	0	1	1
SHROOM4	0	0	1	1
SLC12A5	0	0	1	1
SLC16A2	0	1	0	1
SLC25A26	0	0	1	1
SLC25A4	0	1	0	1
SLC2A2	0	0	1	1
SLC34A1	0	0	1	1
SLC39A8	0	0	1	1
SLC40A1	0	0	1	1
SLC4A1	0	0	1	1
SMARCAL1	0	0	1	1
SMARCD1	0	0	1	1
SMC1A	0	0	1	1
SMCHD1	0	0	1	1
SMPD1	0	1	0	1
SNCB	0	0	1	1
SNHG14, UBE3A	0	1	0	1
SNX14	0	0	1	1
SON	0	0	1	1
SORL1	0	0	1	1
SOX11	0	0	1	1
SPAST	0	0	1	1
SPTAN1	0	0	1	1
SPTBN4	0	0	1	1
STAT1	0	0	1	1
STAT3	0	0	1	1
STAT4	0	0	1	1
SYNE2	0	0	1	1
SYNJ1	0	0	1	1
TAF1	0	0	1	1
TAFAZZIN	0	1	0	1
TAPBP	0	1	0	1
TARDBP	0	1	0	1
TBK1	0	0	1	1
TBX18	0	0	1	1
TBX5	0	0	1	1
TCAP	0	1	0	1
TCF12	1	0	0	1
TET2	0	0	1	1
TET3	0	0	1	1
TFEB	0	0	1	1
TFRC	0	0	1	1
TGFB1	0	1	0	1
THRA	0	0	1	1
TK2	0	1	0	1
TLR3	0	0	1	1
TMC1	0	0	1	1
TMEM240	0	0	1	1
TMEM260	0	1	0	1
TMEM38B	0	0	1	1
TMEM67	0	0	1	1
TMPRSS3	0	1	0	1
TOP3A	1	0	0	1
TRAPPC12	0	0	1	1
TRAPPC9	0	0	1	1
TRIO	0	0	1	1
TRPM7	0	0	1	1
TRPV4	0	0	1	1
TRRAP	0	0	1	1
TTC7A	0	1	0	1
UBAP1	1	0	0	1
UBQLN2	0	0	1	1
UCP2	0	0	1	1
UCP3	0	0	1	1
USB1	0	1	0	1
USP27X	0	0	1	1
USP34	0	0	1	1
USP9X	0	0	1	1
VARS1	0	0	1	1
VHL	0	1	0	1
VPS13A	0	0	1	1
VWA3B	0	0	1	1
WDR19	0	0	1	1
WDR26	0	0	1	1
WFS1	0	0	1	1
WNT1	0	0	1	1
WNT10B	0	0	1	1
WT1	1	0	0	1
YWHAE	0	0	1	1
ZAP70	0	0	1	1
ZDHHC9	0	0	1	1
ZMPSTE24	0	0	1	1
ZNF292	1	0	0	1
ZNF341	0	1	0	1
ZNF408	0	0	1	1
ZNF462	0	0	1	1
ZNF699	0	0	1	1
ZNF711	0	0	1	1

Condition and significance breakdown #

Total conditions: 2

Download table as spreadsheet

Condition	pathogenic	likely pathogenic	uncertain significance	total
not provided	244	485	1852	2581
Congenital heart defects and skeletal malformations syndrome	2	0	1	3

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