Variants from Centre of Medical Genetics, University Hospital Muenster

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
346	213	507	22	3	1091

Gene and significance breakdown #

Total genes and gene combinations: 649

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
LDLR	15	2	0	1	0	18
FBN1	5	3	7	1	0	16
NF1	10	4	1	0	0	15
PKHD1	5	3	3	0	0	11
USH2A	9	0	2	0	0	11
COL1A1	5	2	2	1	0	10
ABCA4	8	0	0	0	0	8
CBL	1	0	7	0	0	8
DMD	7	1	0	0	0	8
PTPN11	6	1	0	0	0	7
RNF213	0	2	5	0	0	7
NOTCH3	0	0	5	1	0	6
RPGR	6	0	0	0	0	6
OPA1	2	3	0	0	0	5
PAH	3	1	1	0	0	5
PKD1	3	0	2	0	0	5
SOS1	1	0	4	0	0	5
TRRAP	0	1	4	0	0	5
ACADM	3	1	0	0	0	4
ACAN	0	3	1	0	0	4
AHI1	1	1	2	0	0	4
ANKRD11	0	2	2	0	0	4
CDC42BPB	0	0	4	0	0	4
CIC	0	0	4	0	0	4
COL1A2	0	3	1	0	0	4
COL2A1	1	3	0	0	0	4
COL3A1	1	1	2	0	0	4
COL4A2	0	0	3	1	0	4
CPLANE1	3	0	1	0	0	4
EDA	0	2	2	0	0	4
ENG	1	1	2	0	0	4
FGA	1	1	2	0	0	4
FGFR1	1	0	3	0	0	4
FLNA	0	0	4	0	0	4
IFIH1	0	0	4	0	0	4
KCNQ2	0	1	3	0	0	4
KDM3B	0	1	3	0	0	4
KMT2A	0	0	4	0	0	4
KMT2C	0	0	4	0	0	4
MECP2	4	0	0	0	0	4
MYH7	2	0	2	0	0	4
POLG	2	0	2	0	0	4
SCN2A	1	2	1	0	0	4
SETBP1	0	1	3	0	0	4
SETD5	2	1	1	0	0	4
TSC2	1	1	2	0	0	4
ZEB2	2	1	1	0	0	4
ZMIZ1	0	1	3	0	0	4
ACADVL	3	0	0	0	0	3
ADAMTS13	0	0	3	0	0	3
APOB	0	1	2	0	0	3
ASPM	2	1	0	0	0	3
ASS1	0	3	0	0	0	3
ATM	3	0	0	0	0	3
BCL11B	2	0	1	0	0	3
CAPN3	0	2	1	0	0	3
CBS	3	0	0	0	0	3
CEP290	2	1	0	0	0	3
CFTR	2	1	0	0	0	3
CHD7	3	0	0	0	0	3
CREBBP	0	0	2	1	0	3
CUBN	1	0	2	0	0	3
DYNC1H1	0	1	2	0	0	3
FGB	0	1	2	0	0	3
GATAD2B	2	0	1	0	0	3
GNRHR	2	1	0	0	0	3
GRIA4	0	2	1	0	0	3
GRIN2A	0	1	2	0	0	3
GRIN2D	0	0	3	0	0	3
KMT2E	1	0	2	0	0	3
LZTR1	1	0	2	0	0	3
MED13	0	1	2	0	0	3
MED13L	0	0	3	0	0	3
MTHFR	0	0	2	0	1	3
MYH11	0	0	3	0	0	3
MYH11, NDE1	0	0	2	1	0	3
MYO7A	2	1	0	0	0	3
MYT1L	1	0	2	0	0	3
PHEX	3	0	0	0	0	3
RYR1	0	2	1	0	0	3
SAMD9	1	1	1	0	0	3
SCN8A	0	1	2	0	0	3
SLC12A1	0	2	1	0	0	3
SMARCAL1	0	1	2	0	0	3
SPG11	1	1	1	0	0	3
SURF1	0	3	0	0	0	3
TCF20	1	0	2	0	0	3
TGFBR1	1	0	2	0	0	3
TSC1	2	1	0	0	0	3
ZMYND11	1	0	2	0	0	3
ABCA3	0	0	2	0	0	2
ABCB11	1	0	1	0	0	2
ABCC6	0	0	2	0	0	2
ABCC8	1	1	0	0	0	2
ABHD14A-ACY1, ACY1	0	0	2	0	0	2
ALDH5A1	1	0	1	0	0	2
ALDH7A1	1	1	0	0	0	2
ALPL	1	1	0	0	0	2
ANOS1	0	1	1	0	0	2
AR	2	0	0	0	0	2
ARID1B	1	1	0	0	0	2
ARID2	0	0	2	0	0	2
ARSA	1	0	1	0	0	2
ASXL3	0	0	2	0	0	2
ATIC	0	1	1	0	0	2
AUTS2	1	0	1	0	0	2
BEST1	0	2	0	0	0	2
BTD	2	0	0	0	0	2
CACNA1E	0	0	2	0	0	2
CASR	0	0	2	0	0	2
CCDC174	0	0	2	0	0	2
CCDC40	0	0	2	0	0	2
CD36	1	0	1	0	0	2
CDK5RAP2	0	0	2	0	0	2
CHAT	0	2	0	0	0	2
CHD3	0	0	2	0	0	2
CHD5	0	0	2	0	0	2
CNGB1	1	1	0	0	0	2
CNOT1	0	1	1	0	0	2
COL4A5	2	0	0	0	0	2
COL5A1	0	0	1	1	0	2
COL7A1	2	0	0	0	0	2
CPT2	0	0	2	0	0	2
CTCF	0	0	2	0	0	2
CTSC	0	2	0	0	0	2
CTU2	0	0	2	0	0	2
CYP21A2, LOC106780800	2	0	0	0	0	2
DEPDC5	1	0	1	0	0	2
DHCR7	2	0	0	0	0	2
DLL1	1	0	1	0	0	2
DNAH5	1	0	0	1	0	2
DNAI1	1	1	0	0	0	2
DNMT3A	1	1	0	0	0	2
EPHB4	0	0	2	0	0	2
F8	0	2	0	0	0	2
FECH	1	1	0	0	0	2
FGFR2	2	0	0	0	0	2
FN1	0	1	1	0	0	2
FOXF1	1	1	0	0	0	2
G6PD	0	2	0	0	0	2
GAA	1	1	0	0	0	2
GALC	0	2	0	0	0	2
GJB2	2	0	0	0	0	2
GK	1	0	1	0	0	2
GNAS	2	0	0	0	0	2
GNB4	0	0	2	0	0	2
GRIK2	0	0	2	0	0	2
GRIN1	0	0	2	0	0	2
GRIN2D, LOC130064855	0	0	1	1	0	2
HEXB	0	2	0	0	0	2
HGD	2	0	0	0	0	2
HPS4	2	0	0	0	0	2
INSR	0	0	2	0	0	2
JAG1	0	0	2	0	0	2
KCNMA1	0	0	2	0	0	2
KCNQ5	1	0	1	0	0	2
KDM5C	0	1	1	0	0	2
KDM6A	0	0	2	0	0	2
KMT2B	0	0	2	0	0	2
KMT5B	1	0	1	0	0	2
KRAS	1	0	1	0	0	2
KRIT1	0	1	1	0	0	2
LMNA	1	1	0	0	0	2
LOC107303340, VHL	1	0	1	0	0	2
LOC126859690, PKHD1	1	0	1	0	0	2
LOX, SRFBP1	0	1	1	0	0	2
MACF1	0	0	1	1	0	2
MAPK8IP3	0	0	2	0	0	2
MC3R	0	0	2	0	0	2
MC4R	1	0	1	0	0	2
MCPH1	2	0	0	0	0	2
MED12	0	2	0	0	0	2
MLH1	2	0	0	0	0	2
NBEA	0	0	2	0	0	2
PAK1	0	1	1	0	0	2
PCNT	0	0	2	0	0	2
PDHA1	0	0	1	1	0	2
PGAP1	0	0	2	0	0	2
PHIP	0	0	2	0	0	2
PIK3CG	0	0	2	0	0	2
PTCH1	1	1	0	0	0	2
PTH1R	1	0	1	0	0	2
RAF1	1	0	1	0	0	2
RAG1	1	1	0	0	0	2
RELN	0	0	2	0	0	2
RET	1	0	1	0	0	2
RORA	1	0	0	1	0	2
RTEL1, RTEL1-TNFRSF6B	2	0	0	0	0	2
SACS	1	0	1	0	0	2
SCN1A	1	0	1	0	0	2
SEC23B	1	1	0	0	0	2
SELENON	0	1	1	0	0	2
SERPINC1	0	0	2	0	0	2
SETD1A	0	0	2	0	0	2
SETD2	0	0	2	0	0	2
SGSH	0	2	0	0	0	2
SIN3A	0	0	2	0	0	2
SKIC3	0	2	0	0	0	2
SLC2A10	1	1	0	0	0	2
SMARCA4	0	1	1	0	0	2
SOS2	0	0	2	0	0	2
SPEN	0	0	2	0	0	2
SPTBN1	0	0	2	0	0	2
SPTBN5	0	0	2	0	0	2
SRCAP	1	0	1	0	0	2
STAG3	0	0	2	0	0	2
STAT3	1	0	1	0	0	2
STK11	0	0	2	0	0	2
STK36	0	0	2	0	0	2
STXBP1	1	0	1	0	0	2
SZT2	0	0	2	0	0	2
TET3	0	1	1	0	0	2
TGFB3	0	0	2	0	0	2
TRIO	0	0	2	0	0	2
TRIP12	1	0	1	0	0	2
TTC7A	2	0	0	0	0	2
VWF	0	1	1	0	0	2
WWOX	1	0	1	0	0	2
ZMYM2	0	0	2	0	0	2
ZNF292	0	0	2	0	0	2
ABCB4	0	0	1	0	0	1
ABCC9, KCNJ8	0	0	1	0	0	1
ABHD12	1	0	0	0	0	1
ACAD9	0	1	0	0	0	1
ACP5	0	1	0	0	0	1
ACSL4	1	0	0	0	0	1
ACTA2	1	0	0	0	0	1
ACTB	0	0	1	0	0	1
ACVRL1	1	0	0	0	0	1
ADA2	1	0	0	0	0	1
ADCY5	1	0	0	0	0	1
ADNP	1	0	0	0	0	1
AFF3	0	1	0	0	0	1
AHDC1	0	0	0	1	0	1
AKT1	0	0	1	0	0	1
ALAS2	0	1	0	0	0	1
ALG14	1	0	0	0	0	1
ALG14, LOC129930989	0	0	1	0	0	1
ALOX12B	0	1	0	0	0	1
ANKRD17	0	1	0	0	0	1
ANO5	0	1	0	0	0	1
AP1G1	0	1	0	0	0	1
AP2M1	0	0	1	0	0	1
AR, LOC109504725	0	0	1	0	0	1
ARCN1	1	0	0	0	0	1
ARF3	1	0	0	0	0	1
ARFGEF1	0	0	1	0	0	1
ARFGEF1-DT, CPA6	0	0	1	0	0	1
ARHGAP31	0	0	1	0	0	1
ARX	0	0	1	0	0	1
ASH1L	0	0	1	0	0	1
ASH1L, MIR555	0	0	1	0	0	1
ASPA, SPATA22	1	0	0	0	0	1
ATL1	0	0	1	0	0	1
ATM, C11orf65	1	0	0	0	0	1
ATP1A2	0	0	1	0	0	1
ATP1A3	0	1	0	0	0	1
ATP2B3	0	0	1	0	0	1
ATP7A	1	0	0	0	0	1
ATP7B	1	0	0	0	0	1
ATRX	0	0	1	0	0	1
ATXN7	0	0	1	0	0	1
AVPR2	0	1	0	0	0	1
B3GAT3	0	0	1	0	0	1
BAG3	0	0	1	0	0	1
BAP1	1	0	0	0	0	1
BCKDHB	0	0	1	0	0	1
BCOR, LOC126863239	1	0	0	0	0	1
BCORL1	0	0	1	0	0	1
BICC1	0	0	1	0	0	1
BLOC1S1-RDH5, RDH5	0	1	0	0	0	1
BPTF	1	0	0	0	0	1
BRPF1	0	1	0	0	0	1
BRSK2	0	0	1	0	0	1
BSCL2, HNRNPUL2-BSCL2	0	0	1	0	0	1
BSND	1	0	0	0	0	1
C1R	0	0	1	0	0	1
C1S	0	0	1	0	0	1
CACNA1A	1	0	0	0	0	1
CACNA1F	1	0	0	0	0	1
CACNA1H	0	0	1	0	0	1
CAVIN1	0	0	1	0	0	1
CC2D2A	1	0	0	0	0	1
CDHR1	0	0	0	0	1	1
CDK13	0	1	0	0	0	1
CERKL	1	0	0	0	0	1
CHAMP1	1	0	0	0	0	1
CHD1	0	1	0	0	0	1
CHD2	0	0	1	0	0	1
CHD4	0	0	1	0	0	1
CHD8	0	0	1	0	0	1
CHM	1	0	0	0	0	1
CHRNB1	1	0	0	0	0	1
CHST6	0	1	0	0	0	1
CIT	0	0	1	0	0	1
CLCN6	0	0	1	0	0	1
CLIC2	0	0	1	0	0	1
CNOT3	1	0	0	0	0	1
CNTNAP1	0	0	1	0	0	1
COL10A1, NT5DC1	1	0	0	0	0	1
COL11A2	0	0	1	0	0	1
COL1A1, LOC126862586	1	0	0	0	0	1
COL4A1	0	0	1	0	0	1
COL4A4	0	0	1	0	0	1
COL9A1	0	1	0	0	0	1
COMP	0	1	0	0	0	1
COPA	0	0	1	0	0	1
COQ8B	0	1	0	0	0	1
CPAMD8	0	0	1	0	0	1
CPT1A	0	1	0	0	0	1
CPT1A, LOC126861244	0	1	0	0	0	1
CRADD	0	0	1	0	0	1
CRX	1	0	0	0	0	1
CSDE1	0	0	1	0	0	1
CSRP3	0	1	0	0	0	1
CUBN, LOC129390143	1	0	0	0	0	1
CUX1	0	0	1	0	0	1
CYFIP2	0	0	1	0	0	1
CYFIP2, NIPAL4-DT	0	0	1	0	0	1
DARS2	1	0	0	0	0	1
DDX3X	0	0	1	0	0	1
DEAF1	0	0	1	0	0	1
DHX30	0	1	0	0	0	1
DIS3L2	0	1	0	0	0	1
DNA2	0	0	1	0	0	1
DNM1	0	0	1	0	0	1
DNM2	1	0	0	0	0	1
DOK7	1	0	0	0	0	1
DPY19L2	0	1	0	0	0	1
DRC4	0	0	1	0	0	1
DSP	0	0	1	0	0	1
DUOX2	0	0	1	0	0	1
DVL1	0	0	1	0	0	1
EBF3	1	0	0	0	0	1
ECHS1	0	0	1	0	0	1
EEF1A2	0	0	1	0	0	1
EHMT1	0	0	1	0	0	1
EIF1AX	0	0	1	0	0	1
EIF2B1	1	0	0	0	0	1
EIF2B1, LOC126861664	0	1	0	0	0	1
ELN	0	0	1	0	0	1
ENAM	0	0	1	0	0	1
EP300	1	0	0	0	0	1
EXOSC3	0	1	0	0	0	1
F13A1	1	0	0	0	0	1
F7	0	1	0	0	0	1
F9	0	1	0	0	0	1
FAH	1	0	0	0	0	1
FAM111A	1	0	0	0	0	1
FBP1	1	0	0	0	0	1
FBXO11	0	0	0	1	0	1
FECH, LOC130062555	0	0	1	0	0	1
FGF23	0	0	1	0	0	1
FGFR3	1	0	0	0	0	1
FGG	0	0	1	0	0	1
FH	1	0	0	0	0	1
FIG4	0	1	0	0	0	1
FKRP	1	0	0	0	0	1
FLCN	0	0	1	0	0	1
FLNC	0	0	1	0	0	1
FLRT3, MACROD2	0	0	1	0	0	1
FLVCR1	1	0	0	0	0	1
FMR1	0	0	1	0	0	1
FOXL2	0	0	1	0	0	1
FOXP1	0	0	1	0	0	1
FOXP2	1	0	0	0	0	1
FRA10AC1	0	0	1	0	0	1
FTL	1	0	0	0	0	1
GABRB3	1	0	0	0	0	1
GABRG2	0	0	1	0	0	1
GAN	0	1	0	0	0	1
GARS1	0	0	1	0	0	1
GCDH	1	0	0	0	0	1
GCK	0	1	0	0	0	1
GJB1	1	0	0	0	0	1
GJC2	1	0	0	0	0	1
GLA, RPL36A-HNRNPH2	0	0	1	0	0	1
GLB1	0	1	0	0	0	1
GLI2	0	0	1	0	0	1
GNA11	0	1	0	0	0	1
GNB1	0	0	0	1	0	1
GPC4	0	0	1	0	0	1
GPHN, RDH12	1	0	0	0	0	1
GRIA3	0	0	1	0	0	1
GRIN2B	0	1	0	0	0	1
GRM7	0	1	0	0	0	1
GUCA1A, GUCA1ANB-GUCA1A	0	1	0	0	0	1
HEXA	1	0	0	0	0	1
HFE	1	0	0	0	0	1
HIVEP2	0	0	0	1	0	1
HK1	1	0	0	0	0	1
HK1, LOC130003980	0	0	1	0	0	1
HNF1B	1	0	0	0	0	1
HNF4A	0	0	1	0	0	1
HNRNPDL	0	0	1	0	0	1
HNRNPU	0	1	0	0	0	1
HS6ST1	0	0	1	0	0	1
HSD17B3, SLC35D2-HSD17B3	0	0	1	0	0	1
HUWE1	0	0	1	0	0	1
IDS	1	0	0	0	0	1
IDUA	1	0	0	0	0	1
IDUA, SLC26A1	1	0	0	0	0	1
IGF1R	0	0	1	0	0	1
IL1RAPL1	0	0	1	0	0	1
INSL6, JAK2	0	1	0	0	0	1
IQSEC2	1	0	0	0	0	1
IRAK1BP1, PHIP	1	0	0	0	0	1
IRF2BPL	0	0	1	0	0	1
ITPR1	0	0	1	0	0	1
JUP	0	0	1	0	0	1
KANSL1	0	1	0	0	0	1
KARS1	1	0	0	0	0	1
KAT6A	0	0	1	0	0	1
KAT6B	0	1	0	0	0	1
KCNC1	0	0	1	0	0	1
KCNH2	0	0	1	0	0	1
KCNJ6	0	0	1	0	0	1
KCNQ3	1	0	0	0	0	1
KCNT1	0	0	1	0	0	1
KCNT2	0	1	0	0	0	1
KDF1	0	0	1	0	0	1
KDM1A	0	0	1	0	0	1
KDM4B	0	0	1	0	0	1
KDM6B	0	0	1	0	0	1
KIDINS220	0	0	1	0	0	1
KIF1A	1	0	0	0	0	1
KIF22	1	0	0	0	0	1
KISS1R	0	0	1	0	0	1
KLHL20	0	1	0	0	0	1
KMT2D	1	0	0	0	0	1
KRT10, LOC126862559	0	1	0	0	0	1
LAMA1	0	1	0	0	0	1
LDLR, MIR6886	1	0	0	0	0	1
LDLRAP1	1	0	0	0	0	1
LEMD3	1	0	0	0	0	1
LGR4	0	0	1	0	0	1
LHCGR, STON1-GTF2A1L	0	0	1	0	0	1
LIPE, LOC101930071	0	0	0	0	1	1
LMBRD2	0	1	0	0	0	1
LMNB2	1	0	0	0	0	1
LOC102724058, SCN1A	0	0	1	0	0	1
LOC105369149, SBF2	0	0	1	0	0	1
LOC111811965, MIR4733HG, NF1	1	0	0	0	0	1
LOC112533672, UNC13D	0	0	1	0	0	1
LOC121627832, TCF4	0	0	0	1	0	1
LOC126807619, NSD1	1	0	0	0	0	1
LOC126859807, TNFAIP3	0	0	1	0	0	1
LOC126862987, SEC23B	1	0	0	0	0	1
LOC129936056, SUMF1	0	0	1	0	0	1
LOC129995965, SOX4	0	0	1	0	0	1
LOC130005368, RRAS2	0	0	1	0	0	1
LOC130057104, PIGB	0	0	1	0	0	1
LOC130060218, VAMP2	0	0	1	0	0	1
LONP1	0	0	1	0	0	1
LRP5	0	0	1	0	0	1
LRP6	0	0	1	0	0	1
MAN1B1	1	0	0	0	0	1
MAP3K1	0	1	0	0	0	1
MARVELD2	0	0	1	0	0	1
MAT1A	0	0	1	0	0	1
MCM9	0	0	1	0	0	1
MED27	0	0	1	0	0	1
MEN1	1	0	0	0	0	1
MKRN3	0	0	1	0	0	1
MMAA	1	0	0	0	0	1
MMACHC	1	0	0	0	0	1
MME	1	0	0	0	0	1
MORC2	0	0	1	0	0	1
MSH6	0	0	1	0	0	1
MSX1	0	0	1	0	0	1
MT-TL1	1	0	0	0	0	1
MTOR	0	0	1	0	0	1
MUTYH	0	0	1	0	0	1
MVP-DT, PRRT2	1	0	0	0	0	1
MYBPC3	1	0	0	0	0	1
MYH14	0	1	0	0	0	1
MYLK	0	0	1	0	0	1
MYLK2	0	0	1	0	0	1
MYPN	0	0	1	0	0	1
NAA15	0	0	1	0	0	1
NAGLU	0	1	0	0	0	1
NDST1	0	1	0	0	0	1
NDUFS4	1	0	0	0	0	1
NEDD4L	0	0	1	0	0	1
NF2	0	1	0	0	0	1
NFIB	0	1	0	0	0	1
NIPA2	0	0	1	0	0	1
NIPBL	1	0	0	0	0	1
NKX2-1, SFTA3	1	0	0	0	0	1
NLGN1	0	0	1	0	0	1
NLRP3	0	1	0	0	0	1
NONO	0	0	1	0	0	1
NOTCH1	0	1	0	0	0	1
NOTCH2	0	0	1	0	0	1
NPC1	0	0	1	0	0	1
NPHP1	0	0	1	0	0	1
NPHS2	1	0	0	0	0	1
NR5A1	0	0	1	0	0	1
NRAS	0	0	1	0	0	1
NSD1	1	0	0	0	0	1
NTRK2	0	0	1	0	0	1
NUP188	1	0	0	0	0	1
OCA2	0	0	1	0	0	1
OFD1	0	1	0	0	0	1
OPLAH	0	0	1	0	0	1
OTC	0	1	0	0	0	1
OXCT1	0	1	0	0	0	1
PACS1	0	0	1	0	0	1
PACS2	0	0	1	0	0	1
PAFAH1B1	0	0	1	0	0	1
PAX3	1	0	0	0	0	1
PAX6	0	1	0	0	0	1
PAX7	0	0	1	0	0	1
PCDH19	0	1	0	0	0	1
PCSK9	0	0	1	0	0	1
PDE6B	1	0	0	0	0	1
PDGFRB	0	1	0	0	0	1
PHEX, PTCHD1	1	0	0	0	0	1
PHF21A	1	0	0	0	0	1
PI4KA, SERPIND1	0	0	1	0	0	1
PIEZO1	0	0	1	0	0	1
PIGN	1	0	0	0	0	1
PIK3CA	0	1	0	0	0	1
PLCB4	0	0	1	0	0	1
PLVAP	0	1	0	0	0	1
POGZ	0	0	1	0	0	1
POLD1	0	0	0	1	0	1
POLR2A	0	0	1	0	0	1
POMGNT1, TSPAN1	0	0	1	0	0	1
POT1	0	1	0	0	0	1
POU3F3	0	0	1	0	0	1
PPP2R1A	0	0	1	0	0	1
PPT1	1	0	0	0	0	1
PROK2	0	0	1	0	0	1
PROP1	1	0	0	0	0	1
PRPF31	1	0	0	0	0	1
PRPH2	1	0	0	0	0	1
PSMD12	0	0	1	0	0	1
PTEN	0	0	1	0	0	1
QARS1	0	0	1	0	0	1
RAB23	0	1	0	0	0	1
RAB33B	1	0	0	0	0	1
RAB3GAP2	0	0	1	0	0	1
RANBP2	0	1	0	0	0	1
REEP1	1	0	0	0	0	1
RERE	0	0	1	0	0	1
RHO	0	1	0	0	0	1
RP1	1	0	0	0	0	1
RP1L1	0	0	1	0	0	1
RPS28	1	0	0	0	0	1
RPS6KA3	0	1	0	0	0	1
RRAGC	0	1	0	0	0	1
RTN4IP1	0	0	1	0	0	1
SAG	0	0	1	0	0	1
SATB2	0	0	1	0	0	1
SBF1	0	0	1	0	0	1
SCN11A	0	1	0	0	0	1
SCN4A	0	0	1	0	0	1
SCNN1B	0	0	1	0	0	1
SDHA	0	1	0	0	0	1
SEMA3A	0	0	1	0	0	1
SEMA6B	0	0	1	0	0	1
SERPINA1	0	1	0	0	0	1
SERPINF1	0	0	1	0	0	1
SETD1B	1	0	0	0	0	1
SETX	0	0	1	0	0	1
SF3B1	0	1	0	0	0	1
SHANK3	1	0	0	0	0	1
SIK1	0	1	0	0	0	1
SKIC2	0	0	1	0	0	1
SLC12A2	0	0	1	0	0	1
SLC22A5	1	0	0	0	0	1
SLC25A10	0	1	0	0	0	1
SLC26A4	0	0	1	0	0	1
SLC6A1	0	1	0	0	0	1
SLC9A7	0	0	1	0	0	1
SMAD2	0	0	1	0	0	1
SMAD3	0	0	1	0	0	1
SMARCA2	0	0	0	1	0	1
SMARCD1	0	1	0	0	0	1
SNHG14, UBE3A	0	0	1	0	0	1
SON	0	0	1	0	0	1
SOX9	0	1	0	0	0	1
SPAG1	0	0	1	0	0	1
SPECC1L, SPECC1L-ADORA2A	0	0	1	0	0	1
SPRED1	1	0	0	0	0	1
SPRY4	0	0	1	0	0	1
SPTB	1	0	0	0	0	1
SPTBN2	0	0	1	0	0	1
SQSTM1	1	0	0	0	0	1
SRD5A2	1	0	0	0	0	1
STAG1	0	0	1	0	0	1
STAG2	0	1	0	0	0	1
STT3A	0	0	1	0	0	1
STX1B	0	0	1	0	0	1
SUFU	0	0	1	0	0	1
SUPT16H	0	0	1	0	0	1
SYN1	0	0	1	0	0	1
SYNE1	0	0	1	0	0	1
SYNGAP1	1	0	0	0	0	1
TACR3	1	0	0	0	0	1
TAF1	1	0	0	0	0	1
TANC2	0	0	1	0	0	1
TAOK1	0	0	1	0	0	1
TARDBP	0	1	0	0	0	1
TBCEL-TECTA, TECTA	0	1	0	0	0	1
TBR1	1	0	0	0	0	1
TBX19	0	1	0	0	0	1
TBX5	1	0	0	0	0	1
TCF4	0	0	1	0	0	1
TCOF1	1	0	0	0	0	1
TCTN3	0	0	1	0	0	1
TFE3	0	1	0	0	0	1
TG	0	0	1	0	0	1
THBD	0	1	0	0	0	1
THPO	0	0	1	0	0	1
THRB	0	0	1	0	0	1
TJP1	0	0	1	0	0	1
TLR3	0	0	1	0	0	1
TMEM70	0	1	0	0	0	1
TNFAIP3	0	0	1	0	0	1
TNNT2	0	0	1	0	0	1
TNXB	0	0	1	0	0	1
TONSL	0	0	1	0	0	1
TP53	1	0	0	0	0	1
TPP1	0	1	0	0	0	1
TRIM63	1	0	0	0	0	1
TRIP11	1	0	0	0	0	1
TRPC6	0	0	1	0	0	1
TRPS1	0	0	1	0	0	1
TUBB3	0	1	0	0	0	1
TULP1	1	0	0	0	0	1
TYR	1	0	0	0	0	1
USP14	1	0	0	0	0	1
USP9X	0	0	1	0	0	1
VPS13B	1	0	0	0	0	1
VPS13D	0	0	1	0	0	1
WAC	1	0	0	0	0	1
WARS1	0	0	0	1	0	1
WDFY3	0	0	1	0	0	1
WDR11	0	0	1	0	0	1
WFS1	0	1	0	0	0	1
WNK3	0	0	1	0	0	1
WNT1	1	0	0	0	0	1
WNT10A	1	0	0	0	0	1
WT1	0	1	0	0	0	1
YWHAG	0	0	0	1	0	1
ZBTB18	0	0	1	0	0	1
ZMPSTE24	1	0	0	0	0	1

Condition and significance breakdown #

Total conditions: 143

Download table as spreadsheet

Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
See cases	273	170	447	16	1	907
Marfan syndrome	1	2	4	2	0	9
Hypercholesterolemia, familial, 1	4	0	0	1	0	5
Neurofibromatosis, type 1	4	1	0	0	0	5
Cystic fibrosis	1	0	2	0	0	3
Familial dysfibrinogenemia	1	0	2	0	0	3
Polycystic kidney disease; Hypoplastic aortic arch	1	1	1	0	0	3
Retinitis pigmentosa 39	1	0	2	0	0	3
Aminoacylase 1 deficiency	0	0	2	0	0	2
Arterial tortuosity syndrome	1	1	0	0	0	2
Biotinidase deficiency	2	0	0	0	0	2
Carnitine palmitoyl transferase 1A deficiency	0	2	0	0	0	2
Charcot-Marie-Tooth disease X-linked dominant 1	1	0	1	0	0	2
Developmental and epileptic encephalopathy, 46	0	0	1	1	0	2
Dystonia 12	0	2	0	0	0	2
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	0	0	2	0	0	2
Hereditary factor VIII deficiency disease	0	2	0	0	0	2
Hypogonadotropic hypogonadism 7 with or without anosmia	2	0	0	0	0	2
Moyamoya disease 2	0	1	1	0	0	2
Phenylketonuria	1	0	1	0	0	2
Protoporphyria, erythropoietic, 1	0	1	1	0	0	2
Retinitis pigmentosa 3	2	0	0	0	0	2
Severe early-childhood-onset retinal dystrophy	2	0	0	0	0	2
Spermatogenic failure, Y-linked, 2	1	1	0	0	0	2
Trichohepatoenteric syndrome 1	0	2	0	0	0	2
Vitelliform macular dystrophy 2	0	2	0	0	0	2
Abnormal lymph node morphology; Increased nuchal translucency; Cervical lymphadenopathy	1	0	0	0	0	1
Achondrogenesis type II; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Platyspondylic dysplasia, Torrance type; Spondyloepimetaphyseal dysplasia, Strudwick type	0	1	0	0	0	1
Alagille syndrome due to a JAG1 point mutation	0	0	1	0	0	1
Amyotrophic lateral sclerosis type 10	0	1	0	0	0	1
Aortic aneurysm, familial thoracic 10	0	1	0	0	0	1
Aortic aneurysm, familial thoracic 4	0	0	1	0	0	1
Aortic aneurysm, familial thoracic 7	0	0	1	0	0	1
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	0	1	0	0	0	1
Auriculocondylar syndrome 2	0	0	1	0	0	1
Autism spectrum disorder due to AUTS2 deficiency	1	0	0	0	0	1
Autism; Global developmental delay; Seizure	0	0	1	0	0	1
Autosomal dominant centronuclear myopathy	1	0	0	0	0	1
Autosomal dominant optic atrophy classic form	0	1	0	0	0	1
Autosomal recessive limb-girdle muscular dystrophy type 2I	1	0	0	0	0	1
Autosomal recessive nonsyndromic hearing loss 89	1	0	0	0	0	1
Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28	1	0	0	0	0	1
Bartter disease type 4A	1	0	0	0	0	1
Beck-Fahrner syndrome	0	1	0	0	0	1
CBL-related disorder	0	0	1	0	0	1
CHARGE syndrome	1	0	0	0	0	1
Cerebellar ataxia; Tremor; Moderate global developmental delay	1	0	0	0	0	1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	0	0	1	0	0	1
Charcot-Marie-Tooth disease type 4B2	0	0	1	0	0	1
Choroideremia	1	0	0	0	0	1
Coffin-Siris syndrome 1	1	0	0	0	0	1
Cone-rod dystrophy 15	0	0	0	0	1	1
Congenital dyserythropoietic anemia, type II	0	1	0	0	0	1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	0	1	0	0	0	1
Crouzon syndrome	1	0	0	0	0	1
Developmental and epileptic encephalopathy, 56	0	0	0	1	0	1
Developmental cataract; Microphthalmia; Microcephaly; Persistent pupillary membrane	0	0	1	0	0	1
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	1	0	0	0	0	1
Duchenne muscular dystrophy	1	0	0	0	0	1
Ehlers-Danlos syndrome due to tenascin-X deficiency	0	0	1	0	0	1
Ehlers-Danlos syndrome, type 4	0	0	1	0	0	1
Epicanthus; Short stature; Abnormal cardiovascular system morphology; Abnormal pinna morphology; Wide nasal bridge; Microcephaly; Depressed nasal ridge	1	0	0	0	0	1
Epilepsy, familial focal, with variable foci 1	1	0	0	0	0	1
Factor XIII, A subunit, deficiency of	1	0	0	0	0	1
Familial episodic pain syndrome with predominantly lower limb involvement	0	1	0	0	0	1
Familial partial lipodystrophy, Dunnigan type	0	1	0	0	0	1
Febrile seizures, familial, 8	0	0	1	0	0	1
Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	1	0	0	0	0	1
Focal segmental glomerulosclerosis 2	0	0	1	0	0	1
Fragile X syndrome	0	0	1	0	0	1
Galactosylceramide beta-galactosidase deficiency	0	1	0	0	0	1
Generalized dominant dystrophic epidermolysis bullosa	1	0	0	0	0	1
Global developmental delay; Language disorder	0	1	0	0	0	1
Global developmental delay; Seizure	0	0	1	0	0	1
Heparin cofactor II deficiency	0	0	1	0	0	1
Hereditary factor IX deficiency disease	0	1	0	0	0	1
Hereditary spastic paraplegia 31	1	0	0	0	0	1
Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	0	0	1	0	0	1
Holt-Oram syndrome	1	0	0	0	0	1
Homocystinuria due to methylene tetrahydrofolate reductase deficiency	0	0	0	0	1	1
Immunodeficiency 49	0	0	1	0	0	1
Inborn glycerol kinase deficiency	1	0	0	0	0	1
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	0	1	0	0	0	1
Intellectual developmental disorder, autosomal dominant 64	0	0	1	0	0	1
Intellectual disability, X-linked 63	1	0	0	0	0	1
Intellectual disability, X-linked syndromic, Turner type	0	0	1	0	0	1
Intellectual disability, autosomal dominant 22	0	0	1	0	0	1
Intellectual disability, autosomal dominant 46	1	0	0	0	0	1
Intellectual disability, autosomal dominant 51	1	0	0	0	0	1
Intellectual disability-severe speech delay-mild dysmorphism syndrome	0	0	1	0	0	1
Lethal tight skin contracture syndrome	1	0	0	0	0	1
Lissencephaly; Microcephaly	1	0	0	0	0	1
Loeys-Dietz syndrome 1	1	0	0	0	0	1
Medium-chain acyl-coenzyme A dehydrogenase deficiency	1	0	0	0	0	1
Microcephaly 5, primary, autosomal recessive	0	1	0	0	0	1
Mowat-Wilson syndrome	0	0	1	0	0	1
Mucopolysaccharidosis, MPS-III-B	0	1	0	0	0	1
Multiple congenital anomalies-hypotonia-seizures syndrome 1	1	0	0	0	0	1
Multiple endocrine neoplasia, type 1	1	0	0	0	0	1
Muscular dystrophy, limb-girdle, autosomal dominant 4	0	1	0	0	0	1
Nephronophthisis 1	0	0	1	0	0	1
Nephrotic syndrome, type 4	0	1	0	0	0	1
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	1	0	0	0	0	1
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	0	0	1	0	0	1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	1	0	0	0	0	1
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	0	1	0	0	0	1
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	0	0	1	0	0	1
Noonan syndrome 1	1	0	0	0	0	1
Noonan syndrome 3	1	0	0	0	0	1
Noonan syndrome 9	0	0	1	0	0	1
Obesity; Global developmental delay; Specific learning disability; Macrocephaly; Optic disc pallor; Large for gestational age	1	0	0	0	0	1
Oculofaciocardiodental syndrome	1	0	0	0	0	1
Osteogenesis imperfecta type I	1	0	0	0	0	1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Osteogenesis imperfecta type I	1	0	0	0	0	1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	0	0	1	0	0	1
Perlman syndrome	0	1	0	0	0	1
Pes planus; Arachnodactyly; Mitral valve prolapse; Lens luxation; Aortic aneurysm	0	0	1	0	0	1
Pheochromocytoma/paraganglioma syndrome 5	0	1	0	0	0	1
Pontocerebellar hypoplasia type 1B	0	1	0	0	0	1
Primary ciliary dyskinesia 3	1	0	0	0	0	1
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Mitochondrial DNA depletion syndrome 4b	1	0	0	0	0	1
Prolonged QT interval	0	0	1	0	0	1
Retinitis pigmentosa 1	1	0	0	0	0	1
Rubinstein-Taybi syndrome due to CREBBP mutations	0	0	0	1	0	1
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	0	1	0	0	0	1
Sifrim-Hitz-Weiss syndrome	0	0	1	0	0	1
Singleton-Merten syndrome 1	0	0	1	0	0	1
Snijders Blok-Campeau syndrome	0	0	1	0	0	1
Snijders blok-fisher syndrome	0	0	1	0	0	1
Spinocerebellar ataxia 7	0	0	1	0	0	1
Spongy degeneration of central nervous system	1	0	0	0	0	1
Succinyl-CoA acetoacetate transferase deficiency	0	1	0	0	0	1
Tay-Sachs disease	1	0	0	0	0	1
Tooth agenesis, selective, 1	0	0	1	0	0	1
Tooth agenesis, selective, X-linked, 1	0	0	1	0	0	1
Tuberous sclerosis 1	1	0	0	0	0	1
Usher syndrome type 2A	1	0	0	0	0	1
Very long chain acyl-CoA dehydrogenase deficiency	1	0	0	0	0	1
Wiedemann-Steiner syndrome	0	0	1	0	0	1
Wilson disease	1	0	0	0	0	1
X-linked Alport syndrome	0	0	1	0	0	1
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	0	0	1	0	0	1
von Willebrand disease type 1	0	1	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.