Total 38 pathogenic variants reported for Restrictive cardiomyopathy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) SNV
Germline		 Chr19:55151892 Pathogenic Cardiomyopathy, familial restrictive, 1
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Primary familial hypertrophic cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Restrictive cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Dilated cardiomyopathy 2A		 Reviewed By Expert Panel
 CA021957 rs_104894729

14 SubmittersRCV000013237RCV000154212RCV000157534RCV000159242RCV000629012RCV000619328RCV000852483RCV003147282RCV003388566
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) SNV
Germline		 Chr19:55154146 Pathogenic/Likely pathogenic Cardiomyopathy, familial restrictive, 1
Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
TNNI3-related disorder
Dilated cardiomyopathy 1FF
Dilated cardiomyopathy 2A
Hypertrophic cardiomyopathy 7
Cardiomyopathy, familial restrictive, 1
Hypertrophic cardiomyopathy 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA021667 rs_104894724

21 SubmittersRCV000013239RCV000159222RCV000498333RCV001170617RCV001254730RCV001787387RCV004549357RCV004795401RCV005867745
NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu) SNV
Germline		 Chr14:23424935 Pathogenic Condition: not provided
Restrictive cardiomyopathy
Hypertrophic cardiomyopathy
Dilated cardiomyopathy 1S		 Reviewed By Expert Panel
 CA012515 rs_397516153

7 SubmittersRCV000373365RCV000758065RCV001221142RCV001253340
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) SNV
Germline		 Chr19:55151910 Pathogenic/Likely pathogenic Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy 7
Restrictive cardiomyopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA021907 rs_397516357

14 SubmittersRCV000157533RCV000167988RCV000223924RCV000620207RCV000770565RCV001258033RCV006646398
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) SNV
Germline		 Chr6:7580679 Conflicting classifications of pathogenicity not specified
Arrhythmogenic right ventricular cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Restrictive cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
DSP-related disorder		 Criteria Provided
Conflicting Classifications
 CA004497 rs_148041814

14 SubmittersRCV000038045RCV000202877RCV000619831RCV000845533RCV000770246RCV000852995RCV001080732RCV003952433
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) SNV
Germline		 Chr12:2679502 Conflicting classifications of pathogenicity Condition: not provided
not specified
Restrictive cardiomyopathy
Long QT syndrome
Brugada syndrome
Long QT syndrome
Cardiovascular phenotype
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
CACNA1C-related disorder		 Criteria Provided
Conflicting Classifications
 CA285379 rs_201492706

13 SubmittersRCV000079296RCV000212340RCV000157124RCV000288792RCV001081791RCV002336232RCV003224137RCV003952497
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) SNV
Germline		 Chr1:201365292 Pathogenic/Likely pathogenic Restrictive cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1D
Hypertrophic cardiomyopathy 2
Cardiomyopathy, familial restrictive, 3
Cardiovascular phenotype
Primary familial hypertrophic cardiomyopathy
Dilated cardiomyopathy 1D
Hypertrophic cardiomyopathy 2
Cardiomyopathy, familial restrictive, 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA004288 rs_727503513

7 SubmittersRCV000152104RCV000159282RCV000533469RCV000619541RCV001193334RCV003453110RCV003453109RCV003453111
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) SNV
Germline		 Chr14:23425403 Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 1
Cardiovascular phenotype
Cardiomyopathy
Primary familial hypertrophic cardiomyopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA012108 rs_727503260

10 SubmittersRCV000151276RCV000158526RCV000462424RCV000578019RCV000621337RCV003149920RCV005888354
NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) SNV
Germline		 Chr14:23429329 Likely pathogenic Hypertrophic cardiomyopathy
Left ventricular noncompaction
Restrictive cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy		 Reviewed By Expert Panel
 CA010299 rs_727503269

3 SubmittersRCV000151296RCV000522095RCV006439671
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) SNV
Germline		 Chr19:55151893 Likely pathogenic Restrictive cardiomyopathy
Hypertrophic cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy 7
Cardiomyopathy, familial restrictive, 1
Dilated cardiomyopathy 1FF
Dilated cardiomyopathy 2A
Hypertrophic cardiomyopathy 7
Cardiomyopathy, familial restrictive, 1		 Reviewed By Expert Panel
 CA021951 rs_727503499

10 SubmittersRCV000152072RCV001066777RCV001092522RCV003326361RCV003224802RCV004584615
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp) SNV
Germline		 Chr19:55154071 Pathogenic/Likely pathogenic Restrictive cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy, familial restrictive, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA021778 rs_727503504

7 SubmittersRCV000157530RCV000159231RCV000456293RCV001254049
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) SNV
Germline		 Chr19:55154070 Pathogenic/Likely pathogenic Restrictive cardiomyopathy
Hypertrophic cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA021784 rs_727503503

7 SubmittersRCV000152076RCV000159232RCV000540068RCV003343657RCV006704574
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) SNV
Germline		 Chr6:7576437 Conflicting classifications of pathogenicity not specified
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular dysplasia 8
Woolly hair-skin fragility syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Familial restrictive cardiomyopathy
Cardiomyopathy
Condition: not provided
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma		 Criteria Provided
Conflicting Classifications
 CA005594 rs_139799237

13 SubmittersRCV000181307RCV000283495RCV000291383RCV000327634RCV000456401RCV000621213RCV000853132RCV000777766RCV001256832RCV004806171
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala) SNV
Germline		 ChrX:32518027 Conflicting classifications of pathogenicity Duchenne muscular dystrophy
Familial restrictive cardiomyopathy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype
Condition: not provided
not specified
DMD-related disorder		 Criteria Provided
Conflicting Classifications
 CA308419 rs_750526692

9 SubmittersRCV000555681RCV000853164RCV001168047RCV001833105RCV001852355RCV002444741RCV005230047RCV005237669RCV004539712
NM_001100.4(ACTA1):c.867C>T (p.Ile289=) SNV
Germline		 Chr1:229431844 Conflicting classifications of pathogenicity not specified
Familial restrictive cardiomyopathy
Actin accumulation myopathy
Congenital myopathy with fiber type disproportion
ACTA1-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA208117 rs_140074813

5 SubmittersRCV000194143RCV001099821RCV001099822RCV001099823RCV003947591RCV006731833
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp) SNV
Germline		 Chr2:71526325 Conflicting classifications of pathogenicity Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
not specified
Restrictive cardiomyopathy		 Criteria Provided
Conflicting Classifications
 CA1705660 rs_527435707

9 SubmittersRCV000726094RCV001139795RCV001833380RCV003155152RCV006646447
NM_001100.4(ACTA1):c.108C>T (p.Ile36=) SNV
Germline		 Chr1:229433008 Conflicting classifications of pathogenicity Actin accumulation myopathy
Familial restrictive cardiomyopathy
Congenital myopathy with fiber type disproportion		 Criteria Provided
Conflicting Classifications
 CA1442937 rs_143948837

2 SubmittersRCV000289010RCV000325221RCV000378765
NM_000432.4(MYL2):c.3G>A (p.Met1Ile) SNV
Germline		 Chr12:110920527 Conflicting classifications of pathogenicity Familial isolated restrictive cardiomyopathy
Hypertrophic cardiomyopathy 10		 Criteria Provided
Conflicting Classifications
 CA386700390 rs_1555258369

2 SubmittersRCV000513098RCV000639673
NM_032578.4(MYPN):c.802C>T (p.Pro268Ser) SNV
Germline		 Chr10:68122240 Conflicting classifications of pathogenicity Restrictive cardiomyopathy
Dilated cardiomyopathy 1KK
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5522337 rs_201454261

4 SubmittersRCV000513324RCV001436243RCV003302750RCV005235370
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=) SNV
Germline		 Chr1:229431508 Conflicting classifications of pathogenicity Actin accumulation myopathy
Familial restrictive cardiomyopathy
Congenital myopathy with fiber type disproportion		 Criteria Provided
Conflicting Classifications
 CA1442703 rs_142311664

2 SubmittersRCV000546819RCV001096304RCV001096305
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg) SNV
Germline		 Chr7:128852854 Conflicting classifications of pathogenicity Restrictive cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy 26
Condition: not provided
Hypertrophic cardiomyopathy 26
Myofibrillar myopathy 5
Distal myopathy with posterior leg and anterior hand involvement		 Criteria Provided
Conflicting Classifications
 CA369210984 rs_1554400962

7 SubmittersRCV000850350RCV001770467RCV004024197RCV006257303RCV006606673
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met) SNV
Germline		 Chr6:7585379 Conflicting classifications of pathogenicity Condition: not provided
Primary dilated cardiomyopathy
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
6 conditions
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Restrictive cardiomyopathy		 Criteria Provided
Conflicting Classifications
 CA051545 rs_537588390

10 SubmittersRCV000587494RCV000678706RCV000772488RCV000804647RCV002497237RCV003159999RCV004002439RCV006646472
NM_001458.5(FLNC):c.6893C>T (p.Pro2298Leu) SNV
Germline		 Chr7:128854578 Conflicting classifications of pathogenicity Restrictive cardiomyopathy
Myofibrillar myopathy 5
Distal myopathy with posterior leg and anterior hand involvement
Hypertrophic cardiomyopathy 26
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA369214090 rs_1382734231

2 SubmittersRCV000714271RCV006607678
NM_001458.5(FLNC):c.7688A>G (p.Tyr2563Cys) SNV
Germline		 Chr7:128857244 Pathogenic Restrictive cardiomyopathy Criteria Provided
Single Submitter
 CA369219679 rs_1563005534

1 SubmittersRCV000714272
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met) SNV
Germline		 Chr7:128854574 Pathogenic/Likely pathogenic Condition: not provided
Cardiovascular phenotype
Restrictive cardiomyopathy
Hypertrophic cardiomyopathy 26
Condition: not provided
Myofibrillar myopathy 5
Distal myopathy with posterior leg and anterior hand involvement
Hypertrophic cardiomyopathy 26		 Criteria Provided
Multiple Submitters
No Conflicts
 CA369214072 rs_1420394583

7 SubmittersRCV001268782RCV003166124RCV005250114RCV004594120RCV006606870
NM_004006.3(DMD):c.8996C>T (p.Ala2999Val) SNV
Germline		 ChrX:31444569 Conflicting classifications of pathogenicity Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype
Familial restrictive cardiomyopathy		 Criteria Provided
Conflicting Classifications
 CA10377940 rs_762577093

4 SubmittersRCV000823007RCV001825669RCV002372356RCV000853172
NM_014476.6(PDLIM3):c.365G>A (p.Arg122Gln) SNV
Germline		 Chr4:185514303 Conflicting classifications of pathogenicity Restrictive cardiomyopathy
not specified		 Criteria Provided
Conflicting Classifications
 CA3159805 rs_751951109

2 SubmittersRCV000852988RCV004029274
NM_001267550.2(TTN):c.25064-4A>G SNV
Germline		 Chr2:178717814 Conflicting classifications of pathogenicity Familial restrictive cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J		 Criteria Provided
Conflicting Classifications
 CA2000286 rs_747247583

2 SubmittersRCV000853153RCV000863734
NM_001100.4(ACTA1):c.786G>C (p.Thr262=) SNV
Germline		 Chr1:229432016 Conflicting classifications of pathogenicity Actin accumulation myopathy
Congenital myopathy with fiber type disproportion
Familial restrictive cardiomyopathy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1442804 rs_141030526

3 SubmittersRCV000877200RCV001099824RCV001099825RCV001545990
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=) SNV
Germline		 Chr1:229431823 Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion
Familial restrictive cardiomyopathy
Actin accumulation myopathy		 Criteria Provided
Conflicting Classifications
 CA1442756 rs_770931836

2 SubmittersRCV001098049RCV001098050RCV001098051
NM_001100.4(ACTA1):c.*248G>A SNV
Germline		 Chr1:229431251 Conflicting classifications of pathogenicity Familial restrictive cardiomyopathy
Congenital myopathy with fiber type disproportion
Actin accumulation myopathy		 Criteria Provided
Conflicting Classifications
 CA38814493 rs_551585351

1 SubmittersRCV001101716RCV001101717RCV001101718
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=) SNV
Germline		 Chr1:229431505 Conflicting classifications of pathogenicity Actin accumulation myopathy
Congenital myopathy with fiber type disproportion
Familial restrictive cardiomyopathy		 Criteria Provided
Conflicting Classifications
 CA423754785 rs_1659932688

2 SubmittersRCV001096303RCV001101723RCV001101722
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=) SNV
Germline		 Chr1:229432575 Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion
Familial restrictive cardiomyopathy
Actin accumulation myopathy		 Criteria Provided
Conflicting Classifications
 CA1442882 rs_371410845

2 SubmittersRCV001098139RCV001098140RCV001098141
NM_001458.5(FLNC):c.4861A>T (p.Ile1621Phe) SNV
Unknown		 Chr7:128848916 Likely pathogenic Restrictive cardiomyopathy No Assertion Criteria Provided
 CA369203385 rs_1808685364

1 SubmittersRCV001328491