Variants studied for Connective tissue disorder

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
28	41	450	588	268	1356

Gene and significance breakdown #

Total genes and gene combinations: 86

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
HSPG2	0	0	32	29	27	88
FBN2	0	0	24	46	24	82
COL2A1	5	14	13	24	17	72
NOTCH1	0	1	6	55	0	62
COL11A2	0	0	11	40	8	59
FLNB	0	2	27	15	15	59
FBN1	5	4	16	23	10	55
COL11A1	0	1	17	26	10	51
TRIP11	1	2	12	13	19	47
FLNA	0	0	2	38	0	40
MYLK	0	0	10	26	0	36
COL5A1	0	1	9	23	0	33
COL5A2	0	1	11	18	0	30
LIFR	0	0	17	3	7	27
TRPV4	0	1	10	5	10	26
COL1A2	0	0	12	12	0	24
FGFR3	5	0	9	3	7	24
TTC21B	0	1	7	8	8	24
WDR19	1	1	15	2	5	24
COL9A3	0	2	5	3	13	23
MYH11	0	0	5	18	0	23
MYH11, NDE1	0	0	5	17	0	22
COL9A2	0	0	7	6	8	21
IFT122	0	0	11	4	6	21
COL1A1	0	0	7	13	0	20
NEK1	1	0	11	4	3	19
COL3A1	0	0	6	11	0	17
SLC26A2	3	1	6	2	5	17
LBR	0	0	11	1	4	16
ARSL	0	0	5	5	5	15
COL9A1	1	1	6	4	3	15
IFT80, TRIM59-IFT80	0	0	5	7	3	15
COMP	0	0	6	4	3	13
PTH1R	0	0	7	5	1	13
WDR35	0	0	7	2	4	13
CBS	1	0	7	1	3	12
EIF2AK3	0	0	6	5	1	12
PRKG1	0	0	3	9	0	12
NKX3-2	0	1	4	2	4	11
SOX9	1	2	4	1	3	11
DDR2	0	0	2	4	3	9
DYM	0	0	2	2	4	8
HSPG2, LDLRAD2	0	0	2	5	1	8
MATN3	0	0	5	1	2	8
SLC39A13	0	0	5	1	2	8
FBN2, LOC126807501	0	0	3	2	2	7
NSDHL	0	0	2	2	3	7
COL9A3, LOC126863084	0	0	0	2	4	6
PEX7	1	0	3	1	1	6
SLC35D1	0	0	4	1	1	6
SMAD3	2	0	1	3	0	6
ACTA2	0	0	1	4	0	5
HSPG2, LOC126805655	0	0	3	0	2	5
SHOX	0	0	1	1	3	5
TGFBR3	0	0	1	4	0	5
COL5A1, LOC101448202	0	0	2	2	0	4
EBP	0	1	2	1	0	4
IFT43	0	0	4	0	0	4
MATN3, WDR35-DT	0	0	1	1	2	4
NTM	0	0	0	3	0	3
TGFB2	0	0	0	3	0	3
TGFBR2	1	0	0	2	0	3
FLNB, LOC129936935	0	0	0	2	0	2
LOC107652445, SHOX	0	1	0	0	1	2
LOC108021846, SOX9	0	1	1	0	0	2
LOC126860794, NOTCH1	0	0	0	2	0	2
ALPL	0	0	1	0	0	1
CLCN7	0	0	0	1	0	1
COL11A1, LOC126805814	0	0	0	1	0	1
COL1A1, LOC126862586	0	0	0	1	0	1
EFEMP1	0	1	0	0	0	1
FBN1, LOC113939944	0	0	1	0	0	1
FLNA, LOC107988032	0	0	0	1	0	1
IFT122, LOC126806810	0	0	0	0	1	1
LOC126806791, MYLK	0	0	0	1	0	1
LOC126863212, OFD1, TRAPPC2	0	0	1	0	0	1
LOX, SRFBP1	0	0	1	0	0	1
MFAP5	0	0	1	0	0	1
OFD1, TRAPPC2	0	1	0	0	0	1
PKD1	0	0	1	0	0	1
PRDM5	0	0	1	0	0	1
TGFBR1	0	0	0	1	0	1
TNFRSF11B	0	0	1	0	0	1
WNK4	0	0	1	0	0	1
WNT1	0	0	1	0	0	1
ZNF469	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 6

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Genome Diagnostics Laboratory, The Hospital for Sick Children	24	35	335	208	268	870
Center for Human Genetics, Inc, Center for Human Genetics, Inc	3	5	112	390	0	510
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations	0	0	3	0	0	3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	1	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	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.