Total 29 pathogenic variants reported for Cardiomyopathy, familial restrictive, 1 
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.586G>A (p.Asp196Asn) SNV
Germline		 Chr19:55151881 Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 7
Primary familial hypertrophic cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A
Cardiomyopathy, familial restrictive, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA022006 rs_104894727

13 SubmittersRCV000013234RCV000148897RCV000159246RCV000461416RCV000777480RCV002354157RCV002496340
NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly) SNV
Germline		 Chr19:55151898 Pathogenic Cardiomyopathy, familial restrictive, 1
Hypertrophic cardiomyopathy 7		 No Assertion Criteria Provided
 CA021945 rs_104894728

1 SubmittersRCV000013236RCV000013235
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) SNV
Germline		 Chr19:55151892 Pathogenic Cardiomyopathy, familial restrictive, 1
Primary familial hypertrophic cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Dilated cardiomyopathy 2A
SUDDEN INFANT DEATH SYNDROME		 Criteria Provided
Multiple Submitters
No Conflicts
 CA021957 rs_104894729

11 SubmittersRCV000013237RCV000157534RCV000159242RCV000154212RCV000619328RCV000629012RCV000852483RCV003388566RCV003147282
NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu) SNV
Germline		 Chr19:55154047 Pathogenic Cardiomyopathy, familial restrictive, 1
Hypertrophic cardiomyopathy 7		 Criteria Provided
Single Submitter
 CA021835 rs_104894730

2 SubmittersRCV000013238RCV001331172
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) SNV
Germline		 Chr19:55154146 Pathogenic Cardiomyopathy, familial restrictive, 1
Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy
TNNI3-related disorder
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A
Cardiomyopathy, familial restrictive, 1
SUDDEN INFANT DEATH SYNDROME		 Criteria Provided
Multiple Submitters
No Conflicts
 CA021667 rs_104894724

19 SubmittersRCV000013239RCV000159222RCV000498333RCV001170617RCV004549357RCV001254730RCV004795401RCV001787387
NM_000363.5(TNNI3):c.431T>A (p.Leu144Gln) SNV
Germline		 Chr19:55154148 Pathogenic Cardiomyopathy, familial restrictive, 1 No Assertion Criteria Provided
 CA021648 rs_121917760

1 SubmittersRCV000013241
NM_000363.5(TNNI3):c.151-6C>G SNV
Germline		 Chr19:55156338 Conflicting classifications of pathogenicity not specified
Condition: not provided
Cardiomyopathy, familial restrictive, 1
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Cardiomyopathy		 Criteria Provided
Conflicting Classifications
 CA021312 rs_377258542

8 SubmittersRCV000036271RCV000488330RCV001130708RCV001086336RCV001129999RCV001129998RCV001130709RCV001189932
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) SNV
Germline		 Chr19:55156248 Conflicting classifications of pathogenicity Cardiovascular phenotype
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 1
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 2A
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Cardiomyopathy, familial restrictive, 1
Hypertrophic cardiomyopathy 7
not specified		 Criteria Provided
Conflicting Classifications
 CA021395 rs_3729712

14 SubmittersRCV000253834RCV000464815RCV000991060RCV000721099RCV001170622RCV001135030RCV001135032RCV001135029RCV001135031RCV000036275
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) SNV
Germline		 Chr19:55156210 Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Cardiomyopathy, familial restrictive, 1
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA021456 rs_75491697

11 SubmittersRCV000233339RCV001133537RCV001133538RCV001133539RCV001133536RCV001188353RCV002433496RCV001711099RCV000036281
NM_000363.5(TNNI3):c.373-15C>G SNV
Germline		 Chr19:55154221 Conflicting classifications of pathogenicity not specified
Cardiomyopathy, familial restrictive, 1
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A
Cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy		 Criteria Provided
Conflicting Classifications
 CA021581 rs_192630178

10 SubmittersRCV000036286RCV001129878RCV001129879RCV001130592RCV001130591RCV001183233RCV001711100RCV002054585
NM_000363.5(TNNI3):c.373-4C>G SNV
Germline		 Chr19:55154210 Conflicting classifications of pathogenicity not specified
Condition: not provided
Cardiomyopathy, familial restrictive, 1
Hypertrophic cardiomyopathy 7
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Cardiomyopathy
Dilated cardiomyopathy 2A
Hypertrophic cardiomyopathy
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA021587 rs_2288530

6 SubmittersRCV000036287RCV000537053RCV001129872RCV001134901RCV001134902RCV001178608RCV001129873RCV001465278RCV002345286
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) SNV
Germline		 Chr19:55154157 Pathogenic/Likely pathogenic Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy
Hypertrophic cardiomyopathy 7
Cardiovascular phenotype
Dilated cardiomyopathy 2A
Cardiomyopathy, familial restrictive, 1
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA021635 rs_397516347

15 SubmittersRCV000159220RCV000465349RCV000777481RCV002051801RCV002326734RCV002477081
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) SNV
Germline		 Chr19:55154145 Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy
Primary familial hypertrophic cardiomyopathy
Condition: not provided
Cardiomyopathy, familial restrictive, 1
Dilated cardiomyopathy 2A
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy 7
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA021673 rs_397516349

16 SubmittersRCV000200141RCV000208273RCV000159223RCV000763057RCV000621089RCV001178632RCV001807758
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) SNV
Germline		 Chr19:55154094 Pathogenic/Likely pathogenic Primary familial hypertrophic cardiomyopathy
Condition: not provided
Cardiomyopathy, familial restrictive, 1
Dilated cardiomyopathy 2A
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy 7
Hypertrophic cardiomyopathy
TNNI3-related disorder
Hypertrophic cardiomyopathy 7
Cardiovascular phenotype
Dilated cardiomyopathy 1FF
Cardiomyopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA021744 rs_397516354

26 SubmittersRCV000208428RCV000159229RCV000477941RCV000197981RCV004549442RCV001807759RCV000620118RCV000850015RCV001170614
NM_000363.5(TNNI3):c.139T>C (p.Leu47=) SNV
Germline		 Chr19:55156614 Conflicting classifications of pathogenicity not specified
Cardiomyopathy
Hypertrophic cardiomyopathy
Cardiomyopathy, familial restrictive, 1
Dilated cardiomyopathy 2A
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Hypertrophic cardiomyopathy 7
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA021292 rs_587780967

6 SubmittersRCV000125561RCV000771892RCV000867108RCV001130713RCV001130714RCV001133663RCV001133664RCV002390281
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) SNV
Germline		 Chr19:55154095 Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 7
Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 2A
Cardiomyopathy, familial restrictive, 1
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 1FF		 Criteria Provided
Conflicting Classifications
 CA021738 rs_368861241

19 SubmittersRCV000148896RCV000709765RCV000159228RCV000475238RCV001170615RCV000722122RCV002498682
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) SNV
Germline		 Chr19:55151893 Pathogenic/Likely pathogenic Restrictive cardiomyopathy
Condition: not provided
Cardiomyopathy, familial restrictive, 1
Dilated cardiomyopathy 2A
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy 7
Cardiomyopathy, familial restrictive, 1
Hypertrophic cardiomyopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA021951 rs_727503499

9 SubmittersRCV000152072RCV001092522RCV003224802RCV003326361RCV004584615RCV001066777
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

6 SubmittersRCV000157530RCV000159231RCV000456293RCV001254049
NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) SNV
Germline		 Chr19:55154071 Conflicting classifications of pathogenicity not specified
Cardiomyopathy, familial restrictive, 1
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy 7
Hypertrophic cardiomyopathy		 Criteria Provided
Conflicting Classifications
 CA021769 rs_727503504

3 SubmittersRCV000152077RCV000197009RCV001850072
NM_000363.5(TNNI3):c.372+7C>T SNV
Germline		 Chr19:55154734 Conflicting classifications of pathogenicity Dilated cardiomyopathy 2A
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Hypertrophic cardiomyopathy 7
Cardiomyopathy, familial restrictive, 1
not specified
Hypertrophic cardiomyopathy		 Criteria Provided
Conflicting Classifications
 CA021562 rs_367809676

5 SubmittersRCV000280620RCV000340334RCV000305310RCV000392099RCV000152085RCV001416946
NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter) SNV
Germline		 Chr19:55154821 Conflicting classifications of pathogenicity Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 2A
Hypertrophic cardiomyopathy 7
Cardiomyopathy, familial restrictive, 1
Dilated cardiomyopathy 1FF
Dilated cardiomyopathy 2A		 Criteria Provided
Conflicting Classifications
 CA021463 rs_730881068

10 SubmittersRCV000159212RCV000628957RCV001170620RCV003162667RCV002478481RCV004786433
NM_000363.5(TNNI3):c.*35C>T SNV
Germline		 Chr19:55151799 Conflicting classifications of pathogenicity Dilated cardiomyopathy 2A
Hypertrophic cardiomyopathy 7
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Cardiomyopathy, familial restrictive, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021540 rs_375447438

2 SubmittersRCV000386757RCV000292526RCV000327605RCV000333521RCV001651039
NM_000363.5(TNNI3):c.-47C>T SNV
Germline		 Chr19:55157636 Conflicting classifications of pathogenicity Dilated cardiomyopathy 2A
Hypertrophic cardiomyopathy 7
Cardiomyopathy, familial restrictive, 1
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Cardiomyopathy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021732 rs_202159627

5 SubmittersRCV001130830RCV001130133RCV001130134RCV001130829RCV001170846RCV001640259
NM_000363.5(TNNI3):c.-98C>A SNV
Germline		 Chr19:55157687 Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A
Cardiomyopathy, familial restrictive, 1
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022133 rs_12973773

2 SubmittersRCV001130831RCV001130832RCV001130833RCV001130834RCV001636708
NM_000363.5(TNNI3):c.109-15A>G SNV
Germline		 Chr19:55156659 Conflicting classifications of pathogenicity not specified
Cardiomyopathy, familial restrictive, 1
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A
Cardiomyopathy
Hypertrophic cardiomyopathy		 Criteria Provided
Conflicting Classifications
 CA050006 rs_779144176

5 SubmittersRCV000218638RCV001133665RCV001133666RCV001133667RCV001133668RCV001190732RCV002518212
NM_000363.5(TNNI3):c.379G>T (p.Asp127Tyr) SNV
Germline		 Chr19:55154200 Likely pathogenic Cardiomyopathy, familial restrictive, 1 No Assertion Criteria Provided
 CA407440799 rs_1114167340

1 SubmittersRCV000490996
NM_000363.5(TNNI3):c.283-9C>T SNV
Germline		 Chr19:55154839 Conflicting classifications of pathogenicity Cardiomyopathy, familial restrictive, 1
Dilated cardiomyopathy 2A
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 7
Cardiomyopathy
not specified		 Criteria Provided
Conflicting Classifications
 CA051102 rs_759922995

4 SubmittersRCV000307195RCV000360725RCV000392101RCV000366570RCV001094590RCV001178099RCV003230476
NM_000363.5(TNNI3):c.108+2T>G SNV
Germline		 Chr19:55157048 Conflicting classifications of pathogenicity Condition: not provided
Dilated cardiomyopathy 1FF
Dilated cardiomyopathy 2A
Cardiomyopathy, familial restrictive, 1
Hypertrophic cardiomyopathy 7
Hypertrophic cardiomyopathy		 Criteria Provided
Conflicting Classifications
 CA16608392 rs_1057520417

3 SubmittersRCV000436600RCV002502489RCV003766205
NM_000363.5(TNNI3):c.130T>G (p.Ser44Ala) SNV
Germline		 Chr19:55156623 Pathogenic Cardiomyopathy, familial restrictive, 1 Criteria Provided
Single Submitter
 rs_2147285302

1 SubmittersRCV002246776