Indigenome VS ClinVar IDs Relevant information available in ClinVar
Variant Identifiers ClinVar Name Variant Type Clinical Significance Phenotype Condition Review Status Variation/condition record
IndiGenomes: chr2:178528773:G>A
 
ClinVar:           chr2:178528773:G>A 		NM_001267550.2(TTN):c.106978C>T (p.Gln35660Ter) SNV
Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G		 Criteria Provided
Single Submitter

1 SubmittersRCV002651566
IndiGenomes: chr2:178532100:G>T
 
ClinVar:           chr2:178532100:G>A 		NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter) SNV
Likely pathogenic Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy		 Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV000642787RCV001784217RCV002397233RCV003486902
IndiGenomes: chr2:178546680:C>A
 
ClinVar:           chr2:178546680:ACG>A 		NM_001267550.2(TTN):c.94747_94748del (p.Arg31583fs) Deletion
Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G		 Criteria Provided
Single Submitter

1 SubmittersRCV001203192
IndiGenomes: chr2:178547654:T>C
 
ClinVar:           chr2:178547654:T>C 		NM_001267550.2(TTN):c.93972A>G (p.Glu31324=) SNV
Conflicting classifications of pathogenicity Cardiovascular phenotype
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided		 Criteria Provided
Conflicting Classifications

6 SubmittersRCV000249570RCV000155678RCV001081058RCV000725871
IndiGenomes: chr2:178549337:G>T
 
ClinVar:           chr2:178549337:G>GCTTTT 		NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs) Microsatellite
Pathogenic/Likely pathogenic Primary dilated cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G		 Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV000208988RCV000479332RCV001379492RCV002363048RCV003389244
IndiGenomes: chr2:178549342:T>TGCTCAGCTGC
 
ClinVar:           chr2:178549342:T>A 		NM_001267550.2(TTN):c.92284A>T (p.Lys30762Ter) SNV
Likely pathogenic Primary dilated cardiomyopathy Criteria Provided
Single Submitter

1 SubmittersRCV004018059
IndiGenomes: chr2:178549348:C>CTAGTAATTCTTAGATTTTG
 
ClinVar:           chr2:178549348:TC>T 		NM_001267550.2(TTN):c.92278del (p.Glu30760fs) Deletion
Likely pathogenic Dilated cardiomyopathy 1G No Assertion Criteria Provided

1 SubmittersRCV004765214
IndiGenomes: chr2:178551799:ATTTC>A
 
ClinVar:           chr2:178551799:A>ATTTC 		NM_001267550.2(TTN):c.91097_91100dup (p.Asn30367fs) Microsatellite
Likely pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter

1 SubmittersRCV005507588
IndiGenomes: chr2:178552081:C>A
 
ClinVar:           chr2:178552081:TC>T 		NM_001267550.2(TTN):c.90819del (p.Met30274fs) Deletion
Likely pathogenic Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J		 Criteria Provided
Single Submitter

1 SubmittersRCV005221675
IndiGenomes: chr2:178569617:T>A
 
ClinVar:           chr2:178569617:T>TAA 		NM_001267550.2(TTN):c.76513_76514dup (p.Leu25505fs) Duplication
Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G		 Criteria Provided
Single Submitter

1 SubmittersRCV003803822
IndiGenomes: chr2:178573140:C>CAGTACCTATATACAGATTCTATCTTCAGCATA
 
ClinVar:           chr2:178573140:C>T 		NM_001267550.2(TTN):c.72992G>A (p.Arg24331His) SNV
Conflicting classifications of pathogenicity Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV000735174RCV001086989RCV002334128
IndiGenomes: chr2:178573722:G>T
 
ClinVar:           chr2:178573722:G>T 		NM_001267550.2(TTN):c.72410C>A (p.Ser24137Ter) SNV
Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G		 Criteria Provided
Single Submitter

1 SubmittersRCV003805060
IndiGenomes: chr2:178576651:C>T
 
ClinVar:           chr2:178576651:C>CTGAGATCGGAAACTGGTGTTTT 		NM_001267550.2(TTN):c.69571_69592dup (p.Arg23198fs) Duplication
Likely pathogenic Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002010809RCV003170538
IndiGenomes: chr2:178584751:G>A
 
ClinVar:           chr2:178584751:G>T 		NM_001267550.2(TTN):c.64890C>A (p.Tyr21630Ter) SNV
Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G		 Criteria Provided
Single Submitter

1 SubmittersRCV003003240
IndiGenomes: chr2:178586782:T>G
 
ClinVar:           chr2:178586782:T>G 		NM_001267550.2(TTN):c.64119A>C (p.Leu21373Phe) SNV
Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy		 Criteria Provided
Conflicting Classifications

1 SubmittersRCV000279668RCV000280410RCV000319635RCV000351056RCV000400184
IndiGenomes: chr2:178599655:A>G
 
ClinVar:           chr2:178599655:A>T 		NM_001267550.2(TTN):c.56246T>A (p.Leu18749Ter) SNV
Likely pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter

1 SubmittersRCV004991075
IndiGenomes: chr2:178607647:C>T
 
ClinVar:           chr2:178607647:C>A 		NM_001267550.2(TTN):c.53041G>T (p.Gly17681Ter) SNV
Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G		 Criteria Provided
Single Submitter

1 SubmittersRCV003807187
IndiGenomes: chr2:178608371:G>A
 
ClinVar:           chr2:178608371:G>C 		NM_001267550.2(TTN):c.52512C>G (p.Tyr17504Ter) SNV
Likely pathogenic Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J		 Criteria Provided
Single Submitter

1 SubmittersRCV000686946
IndiGenomes: chr2:178608688:G>A
 
ClinVar:           chr2:178608688:G>A 		NM_001267550.2(TTN):c.52323C>T (p.Tyr17441=) SNV
Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV000557556RCV000591969RCV004024033
IndiGenomes: chr2:178613239:G>A
 
ClinVar:           chr2:178613239:G>A 		NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys) SNV
Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Limb-girdle muscular dystrophy		 Criteria Provided
Conflicting Classifications

7 SubmittersRCV001700579RCV002425026RCV005626463
IndiGenomes: chr2:178620473:T>G
 
ClinVar:           chr2:178620473:T>A 		NM_001267550.2(TTN):c.46048A>T (p.Arg15350Ter) SNV
Likely pathogenic Dilated cardiomyopathy 1G No Assertion Criteria Provided

1 SubmittersRCV004765270
IndiGenomes: chr2:178634025:T>G
 
ClinVar:           chr2:178634025:CT>C 		NM_001267550.2(TTN):c.42474del (p.Ala14159fs) Deletion
Likely pathogenic Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J		 Criteria Provided
Single Submitter

1 SubmittersRCV001039129
IndiGenomes: chr2:178682837:C>T
 
ClinVar:           chr2:178682837:C>T 		NM_001267550.2(TTN):c.32954G>A (p.Arg10985Gln) SNV
Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV000152373RCV003137658
IndiGenomes: chr2:178702530:C>G
 
ClinVar:           chr2:178702530:C>T 		NM_001267550.2(TTN):c.30357G>A (p.Glu10119=) SNV
Conflicting classifications of pathogenicity Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV000729328RCV002535116
IndiGenomes: chr2:178705276:T>C
 
ClinVar:           chr2:178705276:T>C 		NM_001267550.2(TTN):c.29502A>G (p.Glu9834=) SNV
Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV000536126RCV000611230
IndiGenomes: chr2:178712594:C>A
 
ClinVar:           chr2:178712594:GC>G 		NM_001267550.2(TTN):c.27329-1del Deletion
Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related myopathy		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003790757RCV005356535
IndiGenomes: chr2:178717729:C>A
 
ClinVar:           chr2:178717729:C>T 		NM_001267550.2(TTN):c.25145G>A (p.Arg8382His) SNV
Conflicting classifications of pathogenicity Condition: not provided
6 conditions
not specified		 Criteria Provided
Conflicting Classifications

5 SubmittersRCV000728837RCV005396561RCV004998392
IndiGenomes: chr2:178723594:T>C
 
ClinVar:           chr2:178723594:T>G 		NM_001267550.2(TTN):c.21506A>C (p.Asn7169Thr) SNV
Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV001131547RCV001131548RCV001134541RCV001134542RCV001134543RCV005405497
IndiGenomes: chr2:178730329:T>C
 
ClinVar:           chr2:178730329:T>C 		NM_001267550.2(TTN):c.18071A>G (p.Asn6024Ser) SNV
Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications

2 SubmittersRCV001721181
IndiGenomes: chr2:178731759:C>G
 
ClinVar:           chr2:178731759:C>T 		NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) SNV
Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications

7 SubmittersRCV000643455RCV000611089RCV000727862
IndiGenomes: chr2:178731972:C>A
 
ClinVar:           chr2:178731972:C>T 		NM_001267550.2(TTN):c.16904-1G>A SNV
Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G		 Criteria Provided
Single Submitter

1 SubmittersRCV005214029
IndiGenomes: chr2:178740065:C>T
 
ClinVar:           chr2:178740065:C>A 		NM_001267550.2(TTN):c.13168G>T (p.Glu4390Ter) SNV
Likely pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter

1 SubmittersRCV005295233
IndiGenomes: chr2:178771352:G>C
 
ClinVar:           chr2:178771352:G>C 		NM_001267550.2(TTN):c.7975C>G (p.Leu2659Val) SNV
Conflicting classifications of pathogenicity not specified
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV001293605RCV001545864RCV002411934
IndiGenomes: chr2:178776071:C>T
 
ClinVar:           chr2:178776071:TC>T 		NM_001267550.2(TTN):c.5793del (p.Arg1932fs) Deletion
Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G		 Criteria Provided
Single Submitter

1 SubmittersRCV002848207
IndiGenomes: chr2:178776842:G>C
 
ClinVar:           chr2:178776842:G>C 		NM_001267550.2(TTN):c.5022C>G (p.Ala1674=) SNV
Conflicting classifications of pathogenicity not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV000433039RCV000731595RCV002522637
IndiGenomes: chr2:178789977:C>A
 
ClinVar:           chr2:178789977:C>A 		NM_001267550.2(TTN):c.1938+1G>T SNV
Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV000528221RCV004017673RCV004992337
IndiGenomes: chr2:178576387:C>T
 
ClinVar:           chr2:178576387:AC>A 		NM_001267550.2(TTN):c.69745del (p.Val23249fs) Deletion
Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006265062
IndiGenomes: chr2:178601722:T>C
 
ClinVar:           chr2:178601722:ATT>A 		NM_001267550.2(TTN):c.55367_55368del (p.Lys18456fs) Deletion
Likely pathogenic Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J		 Criteria Provided
Single Submitter

1 SubmittersRCV006591144