Variants from Center for Human Genetics, University of Leuven

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
75	74	106	3	0	258

Gene and significance breakdown #

Total genes and gene combinations: 74

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
MYBPC3	21	13	17	0	51
TTN	3	25	1	0	29
MYH7	9	6	10	0	25
FLNC	9	6	6	0	21
RYR2	0	1	7	0	8
TNNI3	3	2	1	0	6
KCNH2	1	1	3	0	5
LMNB1	5	0	0	0	5
POLA1	5	0	0	0	5
TNNT2	1	2	2	0	5
TPM1	0	2	3	0	5
LOC126861898, MYH7	2	2	0	0	4
MYH6	0	0	4	0	4
CSRP3	0	0	3	0	3
DSP	0	0	3	0	3
HCN4	0	0	3	0	3
MAGT1	3	0	0	0	3
PRKAG2	2	1	0	0	3
SCN5A	0	0	3	0	3
VCL	0	0	2	1	3
ACTN2	0	0	2	0	2
AKAP9	0	0	2	0	2
CASQ2	0	2	0	0	2
DDX3X	0	2	0	0	2
KCNQ1	1	0	1	0	2
LMNA	0	1	1	0	2
MYL3	1	0	1	0	2
MYLK2	0	0	2	0	2
MYPN	0	0	2	0	2
TRPM4	0	0	2	0	2
ABCC9	0	0	1	0	1
ACTC1, GJD2-DT	0	0	1	0	1
ANK2	0	0	1	0	1
ANK2, LOC126807136	0	0	1	0	1
CACNB2	0	0	1	0	1
CALR3	0	0	1	0	1
CRYAB	0	0	1	0	1
DES	1	0	0	0	1
DSC2	0	0	1	0	1
EP300	0	1	0	0	1
GJA5, LOC122128420	0	0	1	0	1
HDAC8	0	0	1	0	1
KCNE1	0	0	1	0	1
KCNE2, LOC105372791	0	0	1	0	1
KCNJ5	0	0	1	0	1
KLF12, ZNF462	1	0	0	0	1
LDB3	0	0	1	0	1
LOC114827850, MYL2	1	0	0	0	1
LOC126806067, RYR2	0	0	1	0	1
LOC126806068, RYR2	0	0	1	0	1
LOC126806422, TTN	1	0	0	0	1
LOC126806423, TTN	0	1	0	0	1
LOC126806425, TTN	0	1	0	0	1
LOC126861896, MYH6	0	0	1	0	1
LOC126861897, MYH7	0	0	1	0	1
LOC126863275, MED12	0	0	1	0	1
MECP2	0	1	0	0	1
MEN1	0	1	0	0	1
MYOZ2	0	0	1	0	1
NHS	0	1	0	0	1
NLRC4	1	0	0	0	1
RBM20	1	0	0	0	1
SCN2B	0	0	1	0	1
SIX3	1	0	0	0	1
SMC1A	0	1	0	0	1
SNTA1	0	0	0	1	1
SYNGAP1	0	1	0	0	1
TAF9B	0	0	1	0	1
TCAP	0	0	0	1	1
TET2	1	0	0	0	1
TGFB3	0	0	1	0	1
TMPO	0	0	1	0	1
TNNC1	1	0	0	0	1
WDR45	0	0	1	0	1

Condition and significance breakdown #

Total conditions: 29

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Hypertrophic cardiomyopathy	41	28	85	1	155
Primary dilated cardiomyopathy	5	28	7	1	41
Primary familial dilated cardiomyopathy	9	6	0	0	15
Syndrome with microcephaly as major feature	5	0	0	0	5
X-linked intellectual disability, van Esch type	5	0	0	0	5
Long QT syndrome 2	2	1	0	1	4
Prolonged QT interval	0	0	4	0	4
Catecholaminergic polymorphic ventricular tachycardia 2	0	3	0	0	3
not specified	0	0	3	0	3
Brugada syndrome 1	0	0	2	0	2
Congenital disorder of glycosylation	2	0	0	0	2
Intellectual disability, X-linked 102	0	2	0	0	2
Brugada syndrome	0	0	1	0	1
Catecholaminergic polymorphic ventricular tachycardia	0	0	1	0	1
Clonal hematopoiesis	1	0	0	0	1
Congenital muscular hypertrophy-cerebral syndrome	0	1	0	0	1
Dilated cardiomyopathy 1DD	1	0	0	0	1
Intellectual disability, autosomal dominant 5	0	1	0	0	1
Multiple endocrine neoplasia, type 1	0	1	0	0	1
Nance-Horan syndrome	0	1	0	0	1
Neurodegeneration with brain iron accumulation 5	0	0	1	0	1
Periodic fever-infantile enterocolitis-autoinflammatory syndrome	1	0	0	0	1
Rett syndrome	0	1	0	0	1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	0	1	0	0	1
Solitary median maxillary central incisor syndrome	1	0	0	0	1
Sudden cardiac death	0	0	1	0	1
Sudden cardiac death; Sinus bradycardia	0	0	1	0	1
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	1	0	0	0	1
not provided	1	0	0	0	1

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