GenTIGS

Lists of Rare Genetic Disorders

Left Ventricular Noncompaction Cardiomyopathy(LVNC) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive, X-linked recessive, MT inheritance mode(s) within the Cardiovascular disorders category

Reported Pathogenic variants

Candidate Gene Information

S.No.	Name/GeneID	Description	Cytogentic Band	Gene Location on genomic DNA	Gene Length	Exons	Details	Gene Cross-References
1	MYH7/4625	myosin heavy chain 7	14q11.2	Chr14, NC_000014.9 (23412740..23435660, complement)	22921 nt	40	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
2	TTN/7273	titin	2q31.2	Chr2, NC_000002.12 (178525989..178807423, complement)	281435 nt	364	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
3	RYR2/6262	ryanodine receptor 2	1q43	Chr1, NC_000001.11 (237042184..237833988)	791805 nt	107	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
4	DSP/1832	desmoplakin	6p24.3	Chr6, NC_000006.12 (7541671..7586714)	45044 nt	24	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
5	MYBPC3/4607	myosin binding protein C3	11p11.2	Chr11, NC_000011.10 (47331406..47352702, complement)	21297 nt	35	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
6	SCN5A/6331	sodium voltage-gated channel alpha subunit 5	3p22.2	Chr3, NC_000003.12 (38548062..38649687, complement)	101626 nt	29	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
7	LAMA4/3910	laminin subunit alpha 4	6q21	Chr6, NC_000006.12 (112107931..112254985, complement)	147055 nt	41	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
8	DMD/1756	dystrophin	Xp21.1	ChrX, NC_000023.11 (31119222..33339388, complement)	2220167 nt	89	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
9	LDB3/11155	LIM domain binding 3	10q23.2	Chr10, NC_000010.11 (86666788..86736072)	69285 nt	18	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
10	ACTC1/70	actin alpha cardiac muscle 1	15q14	Chr15, NC_000015.10 (34790230..34795549, complement)	5320 nt	8	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
11	DTNA/1837	dystrobrevin alpha	18q12.1	Chr18, NC_000018.10 (34493312..34891844)	398533 nt	33	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
12	TAFAZZIN/6901	tafazzin, phospholipid-lysophospholipid transacylase	Xq28	ChrX, NC_000023.11 (154411539..154421726)	10188 nt	12	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
13	TPM1/7168	tropomyosin 1	15q22.2	Chr15, NC_000015.10 (63042747..63071915)	29169 nt	15	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
14	DSG2/1829	desmoglein 2	18q12.1	Chr18, NC_000018.10 (31498177..31549008)	50832 nt	16	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
15	TBX5/6910	T-box transcription factor 5	12q24.21	Chr12, NC_000012.12 (114353911..114408442, complement)	54532 nt	10	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
16	PKP2/5318	plakophilin 2	12p11.21	Chr12, NC_000012.12 (32790755..32896777, complement)	106023 nt	15	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
17	HCN4/10021	hyperpolarization activated cyclic nucleotide gated potassium channel 4	15q24.1	Chr15, NC_000015.10 (73319859..73368958, complement)	49100 nt	9	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
18	PRDM16/63976	PR/SET domain 16	1p36.32	Chr1, NC_000001.11 (3069203..3438621)	369419 nt	17	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
19	RAF1/5894	Raf-1 proto-oncogene, serine/threonine kinase	3p25.2	Chr3, NC_000003.12 (12583601..12664117, complement)	80517 nt	23	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
Variant Information
Disorder Cross-References: GARD GTR MedGen MalaCards Human Phenotype Ontology NORD

Reported Pathogenic variants

Patient care services

Clinical Symptoms & Disabilities