Variants from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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
438	104	799	186	392	1914

Gene and significance breakdown #

Total genes and gene combinations: 800

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
LOC107303340, VHL	67	21	19	4	0	110
VHL	54	14	15	3	2	88
FOXL2	38	8	13	1	2	62
FLCN	41	4	12	1	2	60
FH	36	8	10	0	0	54
GJB2	24	4	13	2	5	48
CHD7	26	4	6	0	7	42
FGFR2	31	8	1	0	0	40
CYLD	23	0	6	0	0	29
BRCA2	0	0	9	11	8	28
APOB	0	0	14	3	7	24
DSP	0	0	13	4	3	20
APC	0	0	11	1	6	18
MECP2	8	0	7	0	3	18
ALK	12	1	2	0	0	15
RYR1	0	0	12	0	2	14
PMS2	0	0	5	2	6	13
TTN	0	0	10	0	1	11
ABCC8	10	0	0	0	0	10
BRCA1	0	0	5	2	3	10
GATA1	10	0	0	0	0	10
TSC2	0	0	4	1	5	10
CDKL5	4	0	3	0	2	9
RYR2	0	0	5	1	3	9
SCN5A	0	0	5	2	3	9
ZEB2	5	0	1	2	1	9
MLH1	0	0	4	1	3	8
FGFR3	3	0	4	0	0	7
HERC2	0	0	3	0	4	7
KCNH2	0	0	4	2	1	7
LDLR	0	0	3	3	1	7
NEB	0	0	5	1	2	7
ANK3	0	0	3	0	3	6
DSC2	0	0	5	0	1	6
DSG2	0	0	4	1	1	6
FMN2	0	0	5	0	1	6
MSH2	0	0	3	0	3	6
MSH6	0	0	5	0	1	6
MYH11, NDE1	0	1	5	1	0	6
PKP2	0	0	3	3	0	6
SNHG14, UBE3A	2	1	3	0	0	6
WFS1	1	0	2	1	2	6
ADGRV1	0	0	4	1	0	5
EFNB1	1	2	1	0	1	5
FBN1	0	0	2	0	3	5
FLNB	0	0	5	0	0	5
KDM6B	0	0	1	1	3	5
MUTYH	1	0	2	1	1	5
MYLK	0	0	5	0	0	5
TP53	2	0	1	0	2	5
TRIOBP	0	0	1	3	1	5
TSC1	0	0	1	0	4	5
ABCD1, PLXNB3	0	0	0	2	2	4
ALG8	0	0	0	3	1	4
ALMS1	0	0	1	0	3	4
CREBBP	0	0	2	0	2	4
DDX11	1	0	3	0	0	4
DPP6	0	0	3	1	0	4
FANCD2, LOC107303338	0	0	3	1	0	4
FOXG1	1	1	0	2	0	4
GABRG2	0	1	3	0	0	4
GLA, RPL36A-HNRNPH2	0	1	2	0	1	4
KMT2A	1	0	2	0	1	4
KMT2C	0	0	1	0	3	4
LOC106029240, VCX3A	0	0	0	1	3	4
MYO6	0	0	2	2	0	4
NOTCH2	0	0	0	2	2	4
POLG	0	0	3	0	1	4
RECQL4	0	0	4	0	0	4
RET	0	0	1	0	3	4
TGFBR2	0	0	3	1	0	4
USH2A	1	0	3	0	0	4
VPS13B	0	0	1	2	1	4
ANKRD11	0	0	2	1	0	3
AP4B1	2	0	0	1	0	3
AP4S1	0	0	3	0	0	3
ATM	0	0	1	0	2	3
CBL	0	0	2	1	0	3
CDH23	1	0	2	0	0	3
COL3A1	0	0	1	0	2	3
HUWE1	0	0	2	1	0	3
KIF7	0	0	1	1	1	3
KMT2D	0	0	0	1	2	3
LRP2	0	0	0	1	2	3
MED13L	1	0	1	1	0	3
MUC4	0	0	1	0	2	3
MYBPC3	0	0	2	0	1	3
MYH11	0	0	3	0	0	3
MYH7	0	0	1	1	1	3
MYO15A	1	0	2	0	0	3
NBPF1	0	0	3	0	0	3
NOD2	0	0	3	0	0	3
NSD1	0	0	1	0	2	3
OTOA	1	0	2	0	0	3
OTOG	0	0	3	0	0	3
PCDH15	0	0	0	2	1	3
PCSK9	0	0	1	1	1	3
PIGT	0	0	1	0	2	3
RAI1	0	0	0	0	3	3
SYNE2	0	0	2	0	1	3
TLR5	0	0	0	0	3	3
TUBGCP6	0	0	3	0	0	3
ZSWIM6	0	0	1	1	1	3
AASS	0	0	2	0	0	2
ADSL	0	0	2	0	0	2
AHCY	0	0	1	1	0	2
AMT	0	0	2	0	0	2
AOPEP, FANCC	1	0	1	0	0	2
ARHGAP29	0	0	2	0	0	2
ARID1B	0	1	1	0	0	2
ARX	0	0	1	1	0	2
ASXL3	0	0	1	0	1	2
ATP1A3	1	1	0	0	0	2
ATP6V0A4	0	0	0	0	2	2
ATP8A2	0	0	1	1	0	2
ATRX	0	0	0	1	1	2
B3GLCT	0	0	1	0	1	2
BCKDHA	0	0	1	0	1	2
BDP1	0	0	1	1	0	2
BRAF	0	0	1	0	1	2
BRCA1, LOC126862571	0	0	2	0	0	2
CACNA1S	0	0	1	0	1	2
CACNA2D2	0	0	1	0	1	2
CBFA2T3	2	0	0	0	0	2
CCDC40	0	0	0	0	2	2
CDK5RAP2	0	0	2	0	0	2
CEL	0	0	0	1	1	2
CEP290	0	0	2	0	0	2
CFI	0	0	1	0	1	2
CHD7, LOC126860403	0	0	1	0	1	2
CLCN1	0	0	0	0	2	2
CLCN2	0	0	0	0	2	2
CNKSR1	0	0	1	0	1	2
CNTN6	0	0	2	0	0	2
COG1	0	0	0	0	2	2
COG1, LOC126862634	0	0	1	0	1	2
COL2A1	0	0	1	1	0	2
COL4A4	0	0	1	1	0	2
COL6A3	0	0	1	0	1	2
CTCF	0	2	0	0	0	2
DAAM1	0	0	2	0	0	2
DACH1	0	0	2	0	0	2
DNAAF3	0	0	2	0	0	2
EHMT1	0	0	2	0	0	2
EPG5	0	0	2	0	0	2
FANCF	0	0	1	1	0	2
FGF8	0	0	1	0	1	2
FLNA	0	0	1	0	1	2
FUCA1	1	0	1	0	0	2
GATAD1, PEX1	0	0	1	1	0	2
GNAS	0	0	2	0	0	2
GRIA3	0	0	0	1	1	2
GTF3C5	0	0	2	0	0	2
HLA-DRB5	0	0	0	0	2	2
HS6ST1	0	0	1	0	1	2
ITGB6	0	0	0	0	2	2
KANK1	0	0	2	0	0	2
KCNMA1	0	0	1	1	0	2
KCNQ1	0	1	1	0	0	2
KIF1B	0	0	0	0	2	2
LAMA2	0	0	1	0	1	2
LARS2	0	1	0	0	1	2
LBR	0	0	2	0	0	2
LOC106780803, TNXB	0	0	0	0	2	2
LRBA	0	0	1	0	1	2
LRPPRC	0	0	2	0	0	2
MED13	0	0	1	0	1	2
MED23	0	0	1	0	1	2
MEGF10	0	0	2	0	0	2
METTL23	0	0	1	0	1	2
MOGS	0	0	0	0	2	2
MT-ND1	0	0	0	1	1	2
MYO1C	0	0	0	0	2	2
MYO7A	0	0	1	0	1	2
MYO9B	0	0	2	0	0	2
NCAPG2	0	0	2	0	0	2
NEB, RIF1	0	0	2	0	0	2
NF1	1	0	0	0	1	2
NKX2-5	0	0	0	0	2	2
NOTCH4	0	0	0	0	2	2
OBSCN	0	0	2	0	0	2
OTOF	0	0	0	1	1	2
OTOGL	0	0	0	2	0	2
PCLO	0	0	0	1	1	2
PCNT	0	0	0	0	2	2
PDGFRB	0	0	2	0	0	2
PHC1	0	0	2	0	0	2
PIGN	0	0	1	0	1	2
PLEC	2	0	0	0	0	2
PNPT1	0	0	2	0	0	2
POLE	0	0	2	0	0	2
POLG, POLGARF	0	0	0	1	1	2
PROKR2	0	0	1	1	0	2
PTPN23	0	0	1	0	1	2
RASA2	0	0	1	0	1	2
RB1	0	0	1	0	1	2
SALL1	0	0	0	1	1	2
SALL4	0	0	1	0	1	2
SBDS	1	0	0	0	1	2
SCN1A, SCN9A	0	0	0	1	1	2
SDHB	1	0	0	0	1	2
SDHD	0	0	1	0	1	2
SEMA3E	0	0	1	0	1	2
SETD2	0	2	0	0	0	2
SETD5	0	0	2	0	0	2
SHANK3	0	0	1	0	1	2
SLC6A8	0	0	0	1	1	2
SLX4	0	0	2	0	0	2
SMARCA2	0	0	0	1	1	2
SPTBN4	0	0	2	0	0	2
SRCAP	0	0	0	0	2	2
STK11	0	0	2	0	0	2
SYNE1	0	0	0	1	1	2
TENM4	0	0	2	0	0	2
TGFB1	0	0	0	0	2	2
TRAPPC9	0	0	2	0	0	2
TUBB2A	0	0	0	1	1	2
TYK2	0	0	2	0	0	2
WASHC5	0	0	2	0	0	2
WHRN	0	0	2	0	0	2
WIPF1	0	0	1	1	0	2
ZBTB24	0	0	1	0	1	2
ZIC5	0	0	0	0	2	2
intergenic	0	1	0	0	0	1
A2ML1	0	0	0	0	1	1
ABCA13	0	0	1	0	0	1
ABCA7	0	0	1	0	0	1
ABCB1	0	0	0	0	1	1
ABHD14A-ACY1, ACY1	0	0	1	0	0	1
ACP6	0	0	0	0	1	1
ADARB1	0	0	1	0	0	1
ADNP	0	0	0	0	1	1
AFDN	0	0	1	0	0	1
AGPS	0	0	1	0	0	1
AGRN	0	0	1	0	0	1
AHDC1	0	0	1	0	0	1
AHI1	0	0	0	0	1	1
AIRE	0	0	1	0	0	1
AKAP9	0	0	1	0	0	1
ALDH5A1	0	0	0	0	1	1
ALDOA, LOC112694756	0	0	1	0	0	1
ALG11	0	0	0	0	1	1
ALG13	0	0	1	0	0	1
ALG2	0	0	1	0	0	1
ALG6	0	0	0	0	1	1
ALX1, LOC124629423	0	0	0	0	1	1
ALX4	0	0	1	0	0	1
ANK2	0	0	1	0	0	1
AP4B1, PTPN22	0	0	1	0	0	1
AP4M1	0	0	1	0	0	1
APTX	0	0	0	0	1	1
AQP4	0	0	1	0	0	1
ARID2	0	0	1	0	0	1
ARX, LOC109610631	1	0	0	0	0	1
ATF2	0	0	1	0	0	1
ATM, C11orf65	0	0	1	0	0	1
ATP10A	0	0	1	0	0	1
ATP5F1A	0	0	1	0	0	1
ATP5MF-PTCD1, PTCD1	0	0	1	0	0	1
ATP6V1B1	0	0	1	0	0	1
ATR	0	0	1	0	0	1
ATXN1, LOC108663993	0	0	0	1	0	1
ATXN2, LOC130008792	0	0	0	0	1	1
ATXN3, LOC108663987	0	0	0	0	1	1
BCL11B	0	0	0	0	1	1
BCL3	0	0	1	0	0	1
BCR	0	0	1	0	0	1
BCR, LOC107963955	0	0	0	0	1	1
BHLHE22	0	0	0	1	0	1
BLM	0	0	1	0	0	1
BLNK	0	0	0	1	0	1
BLTP1	0	0	1	0	0	1
BMP2K, PAQR3	0	0	0	0	1	1
BMPR1B	0	0	0	0	1	1
BMPR2	0	0	0	0	1	1
BNC2	0	0	0	0	1	1
BNC2, LOC126860585	0	0	0	0	1	1
BPI	0	0	1	0	0	1
BRD2	0	0	1	0	0	1
BRF1	0	0	1	0	0	1
BRWD3	0	0	0	0	1	1
C10orf105, CDH23	0	0	1	0	0	1
C12orf57	0	0	0	1	0	1
C17orf67	0	0	1	0	0	1
C2CD3	0	0	1	0	0	1
C2orf42, LOC129934040	0	0	1	0	0	1
C3	0	0	1	0	0	1
CA4	0	0	0	0	1	1
CACNA1A, LOC108663985	0	0	0	0	1	1
CACNA1D	0	0	1	0	0	1
CACNA1F, LOC126863257	1	0	0	0	0	1
CACNA1I	0	0	1	0	0	1
CACNA2D1	0	0	0	0	1	1
CACNB1	0	0	0	1	0	1
CACNB2	0	0	0	1	0	1
CACNG2	0	0	1	0	0	1
CAMK2A	0	0	1	0	0	1
CAMTA1	0	0	1	0	0	1
CARD8	0	0	1	0	0	1
CASK	1	0	0	0	0	1
CAST, LOC101929710, PCSK1	0	0	1	0	0	1
CAVIN1	0	0	1	0	0	1
CCDC198	0	0	0	0	1	1
CCDC22	0	0	0	1	0	1
CCDC33	0	0	0	1	0	1
CCDST, FLG	1	0	0	0	0	1
CCNF, TBC1D24	0	0	1	0	0	1
CD3D	0	0	1	0	0	1
CD79A	0	0	1	0	0	1
CDH15	0	0	1	0	0	1
CDHR1	0	0	0	1	0	1
CDKL5, RS1	0	0	0	0	1	1
CDX1	0	0	1	0	0	1
CEACAM1, LIPE	0	0	1	0	0	1
CEACAM16	0	0	1	0	0	1
CENPE	0	0	0	1	0	1
CEP128, TSHR	0	0	0	0	1	1
CHD2	0	0	1	0	0	1
CHD6	0	0	0	0	1	1
CHD8	0	0	1	0	0	1
CHEK2	0	1	0	0	0	1
CHKB, CHKB-CPT1B	0	0	1	0	0	1
CHRNA7	0	0	1	0	0	1
CHRNB1	0	0	1	0	0	1
CIC	0	0	1	0	0	1
CLPTM1L	0	0	1	0	0	1
CLTCL1	0	0	1	0	0	1
CNGA2	0	0	1	0	0	1
COG6	0	0	1	0	0	1
COL11A1	0	0	0	0	1	1
COL18A1	0	0	1	0	0	1
COL1A1	0	0	0	0	1	1
COL5A3	0	0	1	0	0	1
COL6A1	0	0	1	0	0	1
COL6A2	0	0	0	0	1	1
COL9A3	0	0	0	0	1	1
COQ2, LOC112997540	0	0	1	0	0	1
COQ8A	0	0	0	0	1	1
COX10, LOC105943586	0	0	1	0	0	1
COX15, ENTPD7	0	0	1	0	0	1
CPT1A	0	0	1	0	0	1
CR2	0	0	1	0	0	1
CSTB	0	0	0	1	0	1
CTNNB1	1	0	0	0	0	1
CTTNBP2	0	0	1	0	0	1
CXCR2	0	0	0	1	0	1
CYB5A, LOC132090521	0	0	1	0	0	1
CYB5R3	0	0	1	0	0	1
CYBA	0	0	0	1	0	1
CYP2R1, PDE3B	0	0	1	0	0	1
CYSLTR2	0	0	1	0	0	1
D2HGDH, LOC129936031	0	0	1	0	0	1
DCAF17	0	0	1	0	0	1
DCHS1	0	0	1	0	0	1
DDX10	0	0	0	0	1	1
DENND1C	0	0	1	0	0	1
DENND2B	0	0	1	0	0	1
DHFR, MSH3	0	0	1	0	0	1
DHTKD1	0	1	0	0	0	1
DISP1	0	0	1	0	0	1
DLC1	0	0	1	0	0	1
DLG2	0	0	0	1	0	1
DLG5	0	0	1	0	0	1
DM1, LOC107075317, SIX5	0	0	1	0	0	1
DMD	0	0	0	0	1	1
DMP1, DSPP	0	0	1	0	0	1
DNAH11	0	0	1	0	0	1
DNAJC5B	0	0	1	0	0	1
DNASE1	0	0	1	0	0	1
DNMT1	0	0	0	0	1	1
DOCK7	0	0	0	0	1	1
DOCK8	0	0	0	0	1	1
DOK1	0	0	1	0	0	1
DOK7	1	0	0	0	0	1
DOK7, LOC129992118	0	0	1	0	0	1
DOP1A, PGM3	0	0	1	0	0	1
EBP	0	0	0	0	1	1
ECI1	0	0	1	0	0	1
EDNRA	0	0	1	0	0	1
EEF1A2	0	0	1	0	0	1
EFHC1	0	0	1	0	0	1
EGR2	0	0	1	0	0	1
ELP2	0	0	1	0	0	1
EMG1	0	0	0	0	1	1
ENAH	0	0	0	0	1	1
ENDOG, KYAT1-SPOUT1, SPOUT1	0	0	0	0	1	1
EOMES, LOC129936390	0	0	1	0	0	1
EP300	0	0	0	0	1	1
EPOR	0	1	0	0	0	1
EPS8	0	0	1	0	0	1
ERCC3	0	0	1	0	0	1
ERCC4	0	0	0	1	0	1
ERCC6	0	0	1	0	0	1
ERCC8	0	0	1	0	0	1
ERMARD	0	0	1	0	0	1
ESRRB	0	0	0	1	0	1
ETS1	0	0	1	0	0	1
EXOC6B	0	0	1	0	0	1
EXOSC8	0	0	1	0	0	1
EYS, PHF3	0	0	0	1	0	1
FAAH2	0	0	0	1	0	1
FANCA, ZNF276	0	0	1	0	0	1
FANCC	0	0	0	0	1	1
FANCG	0	0	1	0	0	1
FANCM	0	0	0	0	1	1
FAT4	0	0	0	1	0	1
FBN2	0	0	0	0	1	1
FBXO17	0	0	1	0	0	1
FGFR1	0	0	0	1	0	1
FIGNL1	0	0	1	0	0	1
FIZ1	0	0	1	0	0	1
FKBP10	0	0	1	0	0	1
FOLH1	0	0	0	0	1	1
FOXH1	0	0	0	0	1	1
FOXI1	0	0	1	0	0	1
FOXL1	0	0	1	0	0	1
FOXP1	0	0	1	0	0	1
FREM1	0	0	1	0	0	1
FREM1, LOC126860582	0	0	1	0	0	1
GAA	0	0	1	0	0	1
GABRB3	0	0	0	1	0	1
GABRD	0	0	1	0	0	1
GAL3ST2	0	0	1	0	0	1
GAS2L2	0	0	1	0	0	1
GBA2	0	0	1	0	0	1
GDI1	0	0	0	0	1	1
GH-LCR, SCN4A	0	0	0	0	1	1
GIPC3	0	0	1	0	0	1
GJB4	0	0	0	0	1	1
GLYCTK	0	0	1	0	0	1
GNS	0	0	1	0	0	1
GPC3	0	0	0	0	1	1
GPD1L	0	0	1	0	0	1
GPR161	0	0	0	0	1	1
GPR39, LYPD1	0	0	1	0	0	1
GRB14	0	0	1	0	0	1
GRHL3, STPG1	0	0	0	0	1	1
GRIA1	0	0	0	0	1	1
GRIK2	0	0	1	0	0	1
GRIK3	0	0	1	0	0	1
GRIN2A	0	0	1	0	0	1
GRIN2B	1	0	0	0	0	1
GRM1	0	0	1	0	0	1
GRM5	0	0	1	0	0	1
GRM6, ZNF454	0	0	1	0	0	1
GRXCR2	0	0	1	0	0	1
GSDME	0	0	0	0	1	1
GSE1	0	0	0	1	0	1
GTF2IRD2, LOC106029312	0	0	1	0	0	1
GUCY2C	0	0	1	0	0	1
HACD1, LOC130003454	0	0	1	0	0	1
HAND1	0	0	0	1	0	1
HCN2	0	0	0	0	1	1
HESX1	0	0	0	0	1	1
HFE	1	0	0	0	0	1
HIF1A	0	0	1	0	0	1
HIP1	0	0	0	0	1	1
HNRNPU	0	0	1	0	0	1
HOXB, HOXB6, LOC130061087	0	0	1	0	0	1
HOXB, HOXB6, LOC130061089	0	0	1	0	0	1
HOXD13	0	0	0	0	1	1
HSALR1, PIEZO1	0	0	1	0	0	1
HSD17B4	0	0	1	0	0	1
HSPG2	0	0	0	1	0	1
IARS2	0	0	1	0	0	1
ICE2	0	0	0	0	1	1
IDUA	0	0	1	0	0	1
IFIH1	0	0	1	0	0	1
IFRD1	0	0	0	0	1	1
IFT122	0	0	0	1	0	1
IFT172	0	0	0	1	0	1
IFT80, TRIM59-IFT80	0	0	0	1	0	1
IGF2, INS-IGF2	0	0	1	0	0	1
IGF2R	0	0	0	0	1	1
IGHMBP2	0	0	1	0	0	1
IL10RA	0	0	1	0	0	1
IL21R	0	0	1	0	0	1
IL4I1, NUP62	0	0	1	0	0	1
INO80	0	0	1	0	0	1
INSR	0	0	0	0	1	1
IPO9, NAV1	0	0	1	0	0	1
IQGAP2	0	0	1	0	0	1
ITCH	0	0	1	0	0	1
ITGA4	0	0	1	0	0	1
ITGA7, LOC126861535	0	1	0	0	0	1
ITPK1	0	0	1	0	0	1
JAK1	0	1	0	0	0	1
JAK3	0	0	1	0	0	1
JPH2	0	0	1	0	0	1
KARS1	0	0	0	0	1	1
KAT6A	1	0	0	0	0	1
KCNAB2	0	0	1	0	0	1
KCNC1	0	0	1	0	0	1
KCNJ1	0	0	0	0	1	1
KCNJ10	0	0	0	0	1	1
KCNK9	1	0	0	0	0	1
KCNN4	1	0	0	0	0	1
KCNQ3	0	0	1	0	0	1
KDM5A, NUP98	1	0	0	0	0	1
KDM5C	0	0	0	0	1	1
KIF1A	0	0	1	0	0	1
KLF8	0	0	0	0	1	1
KLHL41	0	0	1	0	0	1
KMT2A, MLLT6	1	0	0	0	0	1
KPTN	0	0	1	0	0	1
KRTAP1-1	0	0	0	0	1	1
LAMB1	0	0	1	0	0	1
LAMB2	0	0	1	0	0	1
LAMB3	0	0	1	0	0	1
LAMC2	0	0	0	1	0	1
LARP7	0	0	1	0	0	1
LDB3	0	0	1	0	0	1
LHX4	0	0	1	0	0	1
LIN7A	0	0	0	0	1	1
LINS1	0	0	0	0	1	1
LMOD3	0	0	1	0	0	1
LOC100131626, UBE4A	0	0	0	0	1	1
LOC107832851, SIRT1	0	0	1	0	0	1
LOC107982234, WT1	0	0	0	1	0	1
LOC108660405, PPP2R2B	0	0	1	0	0	1
LOC110120671, LOC111721705, LOC112806051, ZEB2	1	0	0	0	0	1
LOC112533671, TSEN54	0	0	1	0	0	1
LOC122152296, USH2A	0	0	1	0	0	1
LOC126806427, TTN	0	0	1	0	0	1
LOC126806529, PAX3	0	0	1	0	0	1
LOC126807343, PDZD2	0	0	1	0	0	1
LOC126860392, RP1	0	0	1	0	0	1
LOC126860646, PCSK5	0	0	1	0	0	1
LOC126861339, SDHD	0	0	0	0	1	1
LOC126861509, PRICKLE1	0	0	1	0	0	1
LOC126861897, MHRT, MYH7	0	0	1	0	0	1
LOC126862902, RYR1	0	0	0	0	1	1
LOC126863160, NAGA	0	0	1	0	0	1
LOC129929140, MIB2	0	0	0	1	0	1
LOC129933770, PNPT1	0	0	0	1	0	1
LOC129937686, RASA2	0	0	1	0	0	1
LOC130009266, POLE	0	0	0	1	0	1
LOC130056709, NIPA1	0	0	1	0	0	1
LOC130059892, SERPINF1	0	0	1	0	0	1
LOC130067862, TYMP	0	0	1	0	0	1
LOC130068854, MECP2	0	0	1	0	0	1
LOC613266, MACROD2	0	0	0	1	0	1
LOXHD1	0	0	1	0	0	1
LRP5	0	0	0	0	1	1
LRSAM1	0	0	0	0	1	1
LZTR1	0	0	0	1	0	1
MAG	0	0	0	0	1	1
MAGEL2	0	1	0	0	0	1
MAN1B1	0	0	0	0	1	1
MAN2B1	0	0	0	0	1	1
MAP2	0	0	1	0	0	1
MAP2K3	0	0	1	0	0	1
MAP3K1	0	0	0	1	0	1
MAP3K15	0	0	1	0	0	1
MAP6	0	0	0	1	0	1
MASP2	0	0	0	0	1	1
MBD4	0	0	1	0	0	1
MBNL1	0	0	0	0	1	1
MCIDAS	0	0	1	0	0	1
MDGA1	0	0	1	0	0	1
MED12	0	0	0	0	1	1
MEGF8	0	0	1	0	0	1
MEN1	0	0	0	0	1	1
MERTK	0	0	1	0	0	1
MESP2	0	0	0	1	0	1
MFF	0	0	1	0	0	1
MFSD11, SRSF2	0	1	0	0	0	1
MGAT2	0	0	0	0	1	1
MHRT, MYH7	0	0	0	0	1	1
MIA2	0	0	0	0	1	1
MICA	0	0	0	0	1	1
MILR1, POLG2	0	0	1	0	0	1
MIR3936HG, SLC22A4	0	0	1	0	0	1
MKKS	0	0	0	0	1	1
MKS1	0	0	1	0	0	1
MLXIPL	0	0	0	0	1	1
MLYCD	0	0	0	0	1	1
MMADHC	0	0	0	1	0	1
MOCS2	0	0	1	0	0	1
MPZL2	0	1	0	0	0	1
MR1	0	0	1	0	0	1
MRRF	0	0	1	0	0	1
MSRB3	0	0	0	1	0	1
MT-CYB	0	0	0	0	1	1
MTFMT	0	0	0	1	0	1
MTHFD1	0	0	1	0	0	1
MTM1	0	0	1	0	0	1
MTMR14	0	0	0	1	0	1
MTOR	0	0	1	0	0	1
MTRFR	0	0	1	0	0	1
MUC2	0	0	0	0	1	1
MYH14	0	0	0	0	1	1
MYH3	0	0	1	0	0	1
MYH6	0	0	1	0	0	1
MYH8, MYHAS	0	0	0	1	0	1
MYL2	0	0	1	0	0	1
MYL3	0	0	1	0	0	1
MYO1A	0	0	0	0	1	1
MYO5B	0	0	0	0	1	1
NAA10	0	0	1	0	0	1
NAGA	0	0	1	0	0	1
NAT1	0	0	0	0	1	1
NBAS	0	0	1	0	0	1
NBEA	0	0	1	0	0	1
NDUFA6	0	0	0	1	0	1
NDUFA9	0	0	1	0	0	1
NDUFB3	0	1	0	0	0	1
NDUFS6	0	0	1	0	0	1
NEBL	0	0	0	1	0	1
NECTIN1	0	0	0	0	1	1
NEDD4	0	0	0	0	1	1
NES	0	0	0	0	1	1
NF2	0	0	1	0	0	1
NGLY1	0	0	1	0	0	1
NID1	0	0	1	0	0	1
NLGN1	0	0	0	1	0	1
NLRP12	0	0	1	0	0	1
NLRP3	0	0	0	0	1	1
NPC1	0	0	1	0	0	1
NPHP3, NPHP3-ACAD11	0	0	0	1	0	1
NPL	0	0	1	0	0	1
NR3C2	1	0	0	0	0	1
NRAS	0	1	0	0	0	1
NRG1	0	0	0	1	0	1
NRP2	0	0	0	0	1	1
NRXN1	0	0	1	0	0	1
OPRM1	0	0	0	0	1	1
OTC	0	0	0	0	1	1
OVGP1	0	0	0	0	1	1
PALB2	0	0	0	0	1	1
PALM2AKAP2	0	0	0	0	1	1
PAPSS2	0	0	0	0	1	1
PASK	0	0	1	0	0	1
PAX6	0	0	0	0	1	1
PC	0	0	1	0	0	1
PCSK5	0	0	0	1	0	1
PDGFRA	0	0	1	0	0	1
PDZD7	0	0	0	0	1	1
PER3	0	0	1	0	0	1
PEX12	0	0	0	1	0	1
PGM1	0	0	1	0	0	1
PHKB	0	0	0	0	1	1
PI4KA	0	0	1	0	0	1
PIEZO1	0	0	0	0	1	1
PIEZO2	0	0	1	0	0	1
PIGA	0	0	0	1	0	1
PIGO	0	0	0	0	1	1
PIK3CD	0	0	0	1	0	1
PKHD1	0	0	0	1	0	1
PKM	0	0	1	0	0	1
PLK4	0	0	1	0	0	1
PMM2	0	0	0	0	1	1
PNPLA2	0	0	0	0	1	1
POGZ	0	1	0	0	0	1
POLD1	0	0	0	0	1	1
POMT1	0	0	1	0	0	1
PPIB, SNX22	0	0	1	0	0	1
PPP2R2B	0	0	1	0	0	1
PPT2, PPT2-EGFL8	0	0	1	0	0	1
PRDM16	0	0	0	0	1	1
PREPL	0	0	1	0	0	1
PRKCD	0	0	1	0	0	1
PRNP	0	0	0	0	1	1
PROM1	0	0	1	0	0	1
PRSS1, TRB	0	0	0	0	1	1
PRSS12	0	0	1	0	0	1
PRX	0	0	1	0	0	1
PTCH2	0	0	0	1	0	1
PTEN	0	0	1	0	0	1
PTGER4	0	0	0	0	1	1
PTPN11	0	1	0	0	0	1
PTPRQ	0	0	0	1	0	1
PTPRT	0	0	1	0	0	1
PURA	1	0	0	0	0	1
PYGM	0	0	1	0	0	1
RAB3GAP2	0	0	0	0	1	1
RAD21	0	1	0	0	0	1
RAD50	0	0	1	0	0	1
RAD51C	0	0	0	0	1	1
RAD51D, RAD51L3-RFFL	0	0	1	0	0	1
RASAL1	0	0	0	1	0	1
RBFOX1	0	0	1	0	0	1
RBFOX3	0	0	1	0	0	1
RELN	0	0	0	0	1	1
RELN, SLC26A5	0	0	1	0	0	1
REV3L	0	0	0	1	0	1
RFT1	0	0	1	0	0	1
RFXANK	0	0	0	1	0	1
RIN2	0	0	1	0	0	1
RIPK3	0	0	1	0	0	1
RNF168	0	0	0	0	1	1
ROR2	1	0	0	0	0	1
RORC	0	0	1	0	0	1
RRM2B	0	0	0	0	1	1
RUBCN	0	0	1	0	0	1
RXYLT1	0	0	1	0	0	1
RYK	0	0	0	0	1	1
SACS	0	0	0	1	0	1
SBF1	0	0	1	0	0	1
SCN1A	1	0	0	0	0	1
SCN3A	0	0	0	1	0	1
SCN4A	0	0	0	0	1	1
SDHC	0	0	0	0	1	1
SFTPD	0	0	1	0	0	1
SH3TC2	0	0	1	0	0	1
SHOC2	0	0	1	0	0	1
SIL1	0	0	1	0	0	1
SLC12A6	0	0	1	0	0	1
SLC26A4	1	0	0	0	0	1
SLC2A10	0	0	1	0	0	1
SLC34A1	0	0	0	0	1	1
SLC35C1	0	0	0	1	0	1
SLC46A1	0	0	1	0	0	1
SLC9A9	0	0	0	1	0	1
SLCO1B3, SLCO1B3-SLCO1B7	0	0	1	0	0	1
SMAD3	0	0	1	0	0	1
SMARCA4	0	0	0	0	1	1
SMCHD1	0	0	1	0	0	1
SMPD1	0	0	1	0	0	1
SMPD4	0	0	1	0	0	1
SNIP1	0	0	1	0	0	1
SOX7	0	0	1	0	0	1
SPART	0	0	1	0	0	1
SPDL1	0	0	1	0	0	1
SPEN	0	0	1	0	0	1
SPOCK1	0	0	0	0	1	1
SPTLC1	0	0	0	0	1	1
STAT1	0	0	0	0	1	1
STAT5B	0	0	1	0	0	1
SUCLG1	0	0	1	0	0	1
SUZ12	0	1	0	0	0	1
SYN1	0	0	1	0	0	1
SYNE4	0	0	1	0	0	1
SYNGAP1	0	0	0	0	1	1
SYP	0	0	1	0	0	1
SZT2	0	0	1	0	0	1
TBC1D7, TBC1D7-LOC100130357	0	0	0	1	0	1
TBK1	0	0	1	0	0	1
TBL1XR1	0	0	1	0	0	1
TBXAS1	0	1	0	0	0	1
TBXT	0	0	1	0	0	1
TCF3	0	0	1	0	0	1
TCF4	0	0	0	0	1	1
TCTN3	0	0	0	0	1	1
TDP2	0	0	1	0	0	1
TGFBR1	0	0	0	1	0	1
TGIF1	0	0	1	0	0	1
TM4SF19, TM4SF19-DYNLT2B	0	0	1	0	0	1
TMC3	0	0	0	0	1	1
TMEM132E	0	0	1	0	0	1
TMEM70	0	0	0	0	1	1
TNC	0	0	0	0	1	1
TNFAIP3	0	0	1	0	0	1
TNFRSF8	0	0	1	0	0	1
TNFRSF9	0	0	0	0	1	1
TNNI3	0	0	0	1	0	1
TNNT3	0	0	1	0	0	1
TOP2A	0	0	1	0	0	1
TPO	0	0	1	0	0	1
TPRN	0	0	1	0	0	1
TRAF3	0	0	1	0	0	1
TRPM6	0	0	0	1	0	1
TRPS1	0	0	1	0	0	1
TSHR	0	0	0	1	0	1
TSPEAR	0	0	1	0	0	1
TSPYL2	0	0	0	1	0	1
TTBK1	0	0	1	0	0	1
TTC21B	0	0	0	0	1	1
UBE3A	0	0	0	1	0	1
UBE3B	0	0	0	0	1	1
UCHL1	0	0	1	0	0	1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9	0	0	1	0	0	1
UGT1A, UGT1A10, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9	0	0	1	0	0	1
UROC1	0	0	1	0	0	1
USF3	0	0	0	1	0	1
USH1C	0	0	0	0	1	1
USP27X	0	0	1	0	0	1
VARS2	0	0	1	0	0	1
VIPAS39	0	0	1	0	0	1
VPS33B	0	0	1	0	0	1
VPS45	0	0	1	0	0	1
WAS	0	0	0	0	1	1
WDR11	0	0	1	0	0	1
WDR19	0	0	0	1	0	1
WDR62	0	0	0	0	1	1
WNK1	0	0	0	0	1	1
WNT1	0	0	0	1	0	1
WNT2B	0	0	1	0	0	1
WWOX	0	0	0	0	1	1
XIRP1	0	0	0	0	1	1
ZBTB20	0	0	0	0	1	1
ZC4H2	0	1	0	0	0	1
ZCCHC8	0	0	1	0	0	1
ZDHHC15	0	0	0	0	1	1
ZMYM3	0	0	1	0	0	1
ZNF292	0	0	1	0	0	1
ZNF407	0	0	0	0	1	1
ZNF674	0	0	0	0	1	1
ZNF778	0	0	0	0	1	1
ZNF804A	0	0	0	0	1	1

Condition and significance breakdown #

Total conditions: 83

Download table as spreadsheet

Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not specified	0	0	532	125	288	944
Von Hippel-Lindau syndrome	120	35	34	7	2	198
not provided	59	13	11	3	3	89
Blepharophimosis, ptosis, and epicanthus inversus syndrome	38	8	13	1	2	62
Birt-Hogg-Dube syndrome	41	4	12	1	2	60
Hereditary leiomyomatosis and renal cell cancer	36	8	10	0	0	54
Autosomal recessive nonsyndromic hearing loss 1A	23	4	13	2	5	47
CHARGE syndrome	26	3	6	0	6	41
Hereditary breast ovarian cancer syndrome	0	0	16	13	10	39
Arrhythmogenic right ventricular cardiomyopathy	0	0	24	7	5	36
Lynch syndrome	0	0	16	2	13	31
Hypercholesterolemia, familial, 1	0	0	17	5	8	30
Familial cylindromatosis	18	0	4	0	0	22
Crouzon syndrome	14	2	0	0	0	16
Familial multiple polyposis syndrome	0	0	9	1	6	16
Pfeiffer syndrome	12	4	0	0	0	16
Acute megakaryoblastic leukemia in down syndrome	6	8	0	0	0	14
Malignant hypothermia	0	0	11	0	3	14
Neuroblastoma, susceptibility to, 3	12	1	1	0	0	14
Tuberous sclerosis 2	0	0	4	1	5	10
Aortic aneurysm, familial thoracic 4	0	0	7	1	0	8
Acute megakaryoblastic leukemia without down syndrome	4	3	0	0	0	7
Long QT syndrome 2	0	0	4	2	1	7
Brooke-Spiegler syndrome	5	0	1	0	0	6
Craniosynostosis, nonspecific	0	1	4	1	0	6
Loeys-Dietz syndrome	0	0	4	2	0	6
Long QT syndrome 3; Brugada syndrome	0	0	4	0	2	6
Catecholaminergic polymorphic ventricular tachycardia	0	0	3	1	1	5
Craniofrontonasal syndrome	1	2	1	0	1	5
Marfan syndrome	0	0	2	0	3	5
Multiple endocrine neoplasia	0	0	1	0	4	5
Tuberous sclerosis 1	0	0	1	0	4	5
Brugada syndrome 1; Long QT syndrome 3	0	0	1	2	1	4
Catecholaminergic polymorphic ventricular tachycardia 1	0	0	2	0	2	4
FOXG1 disorder	1	1	0	2	0	4
Fabry disease	0	1	2	0	1	4
Familial adenomatous polyposis 2	1	0	1	1	1	4
Familial thoracic aortic aneurysm and aortic dissection	0	0	4	0	0	4
Hypertrophic cardiomyopathy 1	0	0	1	1	2	4
Transient myeloproliferative syndrome	4	0	0	0	0	4
Acrocephalosyndactyly type I	2	1	0	0	0	3
CBL-related disorder	0	0	2	1	0	3
Dilated cardiomyopathy 1A	0	0	2	0	1	3
Ehlers-Danlos syndrome, type 4	0	0	1	0	2	3
Hypercholesterolemia, autosomal dominant, 3	0	0	1	1	1	3
Li-Fraumeni syndrome 1	0	0	1	0	2	3
Pheochromocytoma/paraganglioma syndrome 1	0	0	1	0	2	3
Cardiomyopathy	0	0	1	1	0	2
Crouzon syndrome-acanthosis nigricans syndrome	1	0	1	0	0	2
Jackson-Weiss syndrome	2	0	0	0	0	2
Li-Fraumeni syndrome	2	0	0	0	0	2
Long QT syndrome 1	0	1	1	0	0	2
Malignant hyperthermia of anesthesia	0	0	1	0	1	2
Multisystem developmental disorder	0	0	2	0	0	2
Peutz-Jeghers syndrome	0	0	2	0	0	2
Pheochromocytoma/paraganglioma syndrome 4	1	0	0	0	1	2
Retinoblastoma	0	0	1	0	1	2
Angiosarcoma	0	1	0	0	0	1
Autosomal dominant nonsyndromic hearing loss 3A	1	0	0	0	0	1
Autosomal recessive nonsyndromic hearing loss 28	0	0	0	1	0	1
Beare-Stevenson cutis gyrata syndrome	1	0	0	0	0	1
Breast and colorectal cancer, susceptibility to	0	1	0	0	0	1
Chuvash polycythemia	1	0	0	0	0	1
Esophageal and colonic dysmotility	0	1	0	0	0	1
Familial medullary thyroid carcinoma	0	0	0	0	1	1
Familial multiple trichoepitheliomata	0	0	1	0	0	1
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome	0	0	0	0	1	1
Frontonasal dysplasia with alopecia and genital anomaly	0	0	1	0	0	1
Hearing loss, autosomal recessive 111	0	1	0	0	0	1
Hemochromatosis type 1	1	0	0	0	0	1
Hypertrophic cardiomyopathy 10	0	0	1	0	0	1
Ichthyosis vulgaris	1	0	0	0	0	1
Muenke syndrome	1	0	0	0	0	1
Neurofibromatosis, type 2	0	0	1	0	0	1
PTEN hamartoma tumor syndrome	0	0	1	0	0	1
Pheochromocytoma/paraganglioma syndrome 3	0	0	0	0	1	1
Pseudohypoaldosteronism	1	0	0	0	0	1
Severe X-linked myotubular myopathy	0	0	1	0	0	1
Shwachman-Diamond syndrome 1	1	0	0	0	0	1
Syndromic X-linked intellectual disability Najm type	1	0	0	0	0	1
Syndromic intellectual disability	1	0	0	0	0	1
Thanatophoric dysplasia type 1	1	0	0	0	0	1
Wilms tumor 1	0	0	0	1	0	1

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