Variants studied for Jeune thoracic dystrophy

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)
		ClinVar version:

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
368	218	777	1968	176	3334

Gene and significance breakdown #

Total genes and gene combinations: 34

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
DYNC2H1	292	148	493	1768	144	2722
IFT80, TRIM59-IFT80	34	12	246	199	31	516
WDR19	10	9	9	0	0	19
TTC21B	0	5	10	1	1	15
IFT80	5	1	5	0	0	11
EVC2	4	5	1	0	0	5
IFT140, LOC105371046	4	4	0	0	0	4
WDR35	4	4	0	0	0	4
GRK2	1	2	0	0	0	3
C2CD3	0	0	2	0	0	2
DYNC2I1	2	2	0	0	0	2
DYNC2I2	2	2	0	0	0	2
DYNC2I2, LOC126860772	2	2	0	0	0	2
IFT43	0	1	2	0	0	2
IFT74	0	2	1	0	0	2
KIAA0753	1	1	0	0	0	2
LBR	2	2	0	0	0	2
RAB34	0	2	0	0	0	2
TRAF3IP1	2	2	0	0	0	2
ANGPTL5, BIRC2, BIRC3, CEP126, CFAP300, DCUN1D5, DYNC2H1, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, TMEM123, TRPC6, YAP1	1	0	0	0	0	1
B9D1	0	0	1	0	0	1
DYNC2I2, SPTAN1	1	1	0	0	0	1
FLVCR1, LOC129932486	0	1	0	0	0	1
FUZ	0	1	1	0	0	1
IFT140	1	1	0	0	0	1
IFT52	0	1	1	0	0	1
IFT81	0	1	0	0	0	1
IFT88	0	1	1	0	0	1
INTU	0	1	1	0	0	1
INTU, LOC126807151	0	1	1	0	0	1
KIAA0586	0	1	0	0	0	1
LOC112939934, WDR19	0	0	1	0	0	1
NEK1	0	1	1	0	0	1
SLTM	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	293	103	662	1951	175	3184
Illumina Laboratory Services, Illumina	0	0	94	17	7	118
University of Washington Center for Mendelian Genomics, University of Washington	1	110	0	0	0	111
Dan Cohn Lab, University Of California Los Angeles	89	4	12	0	0	105
Rare Disease Group, Clinical Genetics, Karolinska Institutet	10	9	17	0	0	36
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	1

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