Variants from Centre of Medical Genetics, University of Antwerp

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
227	147	158	0	0	529

Gene and significance breakdown #

Total genes and gene combinations: 64

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
FBN1	164	107	24	295
NOTCH1	8	2	20	30
DLL4	12	1	3	15
BGN	3	10	3	14
SMAD6	4	1	4	9
CTR9	0	6	2	8
FBN1, LOC126862124	6	1	1	8
FBN2	0	0	8	8
IPO8	8	0	0	8
MYLK	0	0	8	8
FLNA	0	0	7	7
LOX, SRFBP1	4	0	2	6
TGFBR2	0	2	4	6
ELN	0	0	5	5
EMILIN1	0	0	5	5
MYH11	0	0	5	5
MYH11, NDE1	0	0	5	5
SMAD3	0	0	5	5
THSD4	0	3	2	5
ACTA2	0	0	4	4
EOGT	4	0	0	4
PLOD1	0	0	4	4
TBX20	0	0	4	4
TGFBR1	0	0	4	4
COL3A1	0	0	3	3
CTR9, LOC126861140	0	3	0	3
FBN1, LOC113939944	0	2	1	3
FBN1, LOC130057019	0	0	3	3
LOC126860794, NOTCH1	0	0	3	3
ATP2B3, BGN, LOC130068823, LOC130068824	2	0	0	2
DOCK6	0	0	2	2
JAG1	0	2	0	2
KCNMA1	1	1	0	2
RBPJ	0	2	0	2
SCN5A	1	1	0	2
TGFB2	0	0	2	2
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NTAN1, PDXDC1, PLA2G10, RRN3	0	0	1	1
ABCC6, NOMO3	0	0	1	1
ARF1, BTNL10, C1orf35, GJC2, GUK1, H2AC25, H2BC26, H3-4, IBA57, MRPL55, OBSCN, RHOU, RNF187, TRIM11, TRIM17, WNT3A	0	0	1	1
ARHGAP31	1	0	0	1
BRCC3, FLNA	0	0	1	1
CCDC116, GGTLC2, MAPK1, MIR130B, PPIL2, PPM1F, PRAME, RIMBP3C, SDF2L1, TMEM191C, TOP3B, UBE2L3, VPREB1, YDJC, YPEL1, ZNF280A, ZNF280B	1	0	0	1
CEP57	1	0	0	1
COL2A1	1	0	0	1
DES	1	0	0	1
DGCR6, PRODH, USP18	0	0	1	1
DPY19L1, NPSR1, TBX20	0	0	1	1
DSG2	0	1	0	1
ELAC2	1	0	0	1
FBN3	0	0	1	1
FGFR4, LMAN2, MXD3, NSD1, PRELID1, RAB24	1	0	0	1
FLNA, OPN1LW, OPN1MW, OPN1MW2, TEX28, TKTL1	0	0	1	1
HNRNPH1, LOC128966623	0	1	0	1
KCNQ1, KCNQ1OT1	0	0	1	1
KLF12	0	0	1	1
LCTL, SMAD3, SMAD6, ZWILCH	1	0	0	1
LOC126807011, RBPJ	0	1	0	1
LOC126861443, MFAP5	0	0	1	1
RNASEH2B	1	0	0	1
SAMHD1	1	0	0	1
SKI	0	0	1	1
SLC2A10	0	0	1	1
TGFB3	0	0	1	1
ZNF626	0	0	1	1

Condition and significance breakdown #

Total conditions: 33

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Condition	pathogenic	likely pathogenic	uncertain significance	total
Marfan syndrome	170	110	14	294
Familial thoracic aortic aneurysm and aortic dissection	5	1	100	106
Adams-Oliver syndrome 5	8	2	9	19
Aortic valve disease 1	3	1	15	19
Meester-Loeys syndrome	0	10	3	13
CTR9-related neurodevelopmental disorder	0	9	2	11
Adams-Oliver syndrome	9	0	0	9
IPO8-related aortopathy	8	0	0	8
Adams-Oliver syndrome 6	3	1	3	7
Aortic aneurysm, familial thoracic 10	4	0	1	5
Aortic aneurysm, familial thoracic 12	0	3	2	5
Adams-Oliver syndrome 4	4	0	0	4
Loeys-Dietz syndrome 2	0	2	2	4
Adams-Oliver syndrome 3	0	3	0	3
Heterotopia, periventricular, X-linked dominant	0	0	3	3
Adams-Oliver syndrome 2	0	0	2	2
Brugada syndrome	1	1	0	2
Cerebral palsy	2	0	0	2
Craniosynostosis 7	2	0	0	2
Sudden cardiac death	0	1	1	2
5q35 microduplication syndrome	1	0	0	1
Adams-Oliver syndrome 1	1	0	0	1
Alagille syndrome due to a JAG1 point mutation	0	1	0	1
Aneurysm-osteoarthritis syndrome	0	0	1	1
Aortic aneurysm, familial thoracic 6	0	0	1	1
Chromosome 22q11.2 deletion syndrome, distal	1	0	0	1
Combined oxidative phosphorylation defect type 17	1	0	0	1
Desmin-related myofibrillar myopathy	1	0	0	1
Intellectual disability, X-linked, syndromic, Bain type	0	1	0	1
KCNMA1-related disorder	1	0	0	1
Liang-Wang syndrome	0	1	0	1
Mosaic variegated aneuploidy syndrome 2	1	0	0	1
Type 2 collagenopathy	1	0	0	1

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