TNNI3K (TNNI3 interacting kinase) - Rat Genome Database

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Gene: TNNI3K (TNNI3 interacting kinase) Homo sapiens
Analyze
Symbol: TNNI3K
Name: TNNI3 interacting kinase
RGD ID: 1345235
HGNC Page HGNC:19661
Description: Enables protein kinase activity. Involved in peptidyl-serine autophosphorylation and regulation of heart contraction. Located in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cardiac ankyrin repeat kinase; cardiac troponin I-interacting kinase; CARK; CCDD; MGC142099; MGC33828; serine/threonine-protein kinase TNNI3K; TNNI3-interacting kinase
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38174,235,387 - 74,544,428 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl174,235,387 - 74,544,428 (+)EnsemblGRCh38hg38GRCh38
GRCh37174,701,071 - 75,010,112 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36174,473,673 - 74,782,696 (+)NCBINCBI36Build 36hg18NCBI36
Build 34174,413,105 - 74,722,129NCBI
Celera172,909,510 - 73,255,421 (+)NCBICelera
Cytogenetic Map1p31.1NCBI
HuRef172,835,865 - 73,144,630 (+)NCBIHuRef
CHM1_1174,816,721 - 75,125,605 (+)NCBICHM1_1
T2T-CHM13v2.0174,076,908 - 74,385,812 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
nucleus  (IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. Cloning and characterization of a novel cardiac-specific kinase that interacts specifically with cardiac troponin I. Zhao Y, etal., J Mol Med 2003 May;81(5):297-304. Epub 2003 Apr 30.
Additional References at PubMed
PMID:11329013   PMID:12477932   PMID:15489334   PMID:15815621   PMID:17660584   PMID:18029348   PMID:18205602   PMID:18552163   PMID:19359327   PMID:19913121   PMID:19925440   PMID:20569525  
PMID:20628086   PMID:20808825   PMID:20935630   PMID:21314842   PMID:21873635   PMID:22939624   PMID:23085512   PMID:23236294   PMID:23369981   PMID:23449627   PMID:23563607   PMID:23669352  
PMID:24899531   PMID:24925317   PMID:25231870   PMID:25791106   PMID:28135716   PMID:28744816   PMID:29355681   PMID:30334579   PMID:31586073   PMID:31589606   PMID:32272798   PMID:32296183  
PMID:32529721   PMID:32707033   PMID:33664309   PMID:33961781   PMID:34440456   PMID:38424693  


Genomics

Comparative Map Data
TNNI3K
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38174,235,387 - 74,544,428 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl174,235,387 - 74,544,428 (+)EnsemblGRCh38hg38GRCh38
GRCh37174,701,071 - 75,010,112 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36174,473,673 - 74,782,696 (+)NCBINCBI36Build 36hg18NCBI36
Build 34174,413,105 - 74,722,129NCBI
Celera172,909,510 - 73,255,421 (+)NCBICelera
Cytogenetic Map1p31.1NCBI
HuRef172,835,865 - 73,144,630 (+)NCBIHuRef
CHM1_1174,816,721 - 75,125,605 (+)NCBICHM1_1
T2T-CHM13v2.0174,076,908 - 74,385,812 (+)NCBIT2T-CHM13v2.0
Tnni3k
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393154,491,928 - 154,761,044 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3154,491,928 - 154,761,044 (-)EnsemblGRCm39 Ensembl
GRCm383154,786,291 - 155,055,407 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3154,786,291 - 155,055,407 (-)EnsemblGRCm38mm10GRCm38
MGSCv373154,449,255 - 154,718,371 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363154,721,595 - 154,990,700 (-)NCBIMGSCv36mm8
Celera3161,244,354 - 161,513,160 (-)NCBICelera
Cytogenetic Map3H4NCBI
cM Map379.32NCBI
Tnni3k
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82246,397,051 - 246,665,000 (-)NCBIGRCr8
mRatBN7.22243,737,346 - 244,005,319 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2243,710,950 - 244,005,268 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2251,567,799 - 251,835,409 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02249,461,629 - 249,729,221 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02244,362,150 - 244,636,856 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02261,069,210 - 261,337,294 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2261,069,203 - 261,337,163 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02279,730,855 - 279,999,134 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42252,627,444 - 252,824,416 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12252,942,037 - 252,962,090 (+)NCBI
Celera2235,659,697 - 235,927,289 (-)NCBICelera
Cytogenetic Map2q45NCBI
LOC100990811
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21152,335,419 - 152,681,099 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11151,495,855 - 151,840,275 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0173,464,364 - 73,772,977 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1175,440,781 - 75,747,682 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl175,403,555 - 75,747,240 (+)Ensemblpanpan1.1panPan2
TNNI3K
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1671,825,853 - 72,107,832 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl671,815,734 - 72,119,476 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha674,489,520 - 74,761,768 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0672,463,781 - 72,703,848 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl672,419,208 - 72,703,805 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1671,913,206 - 72,224,860 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0671,904,267 - 72,144,070 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0672,399,222 - 72,639,531 (-)NCBIUU_Cfam_GSD_1.0
Tnni3k
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505886,154,293 - 86,333,794 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365711,559,956 - 1,843,688 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365711,559,845 - 1,843,985 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TNNI3K
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6138,634,274 - 138,914,115 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16138,634,770 - 138,914,194 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26128,498,341 - 128,553,755 (-)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in TNNI3K
1001 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015978.3(TNNI3K):c.736G>C (p.Gly246Arg) single nucleotide variant Primary dilated cardiomyopathy [RCV003319252] Chr1:74342895 [GRCh38]
Chr1:74808579 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.2(TNNI3K):c.334-3286C>A single nucleotide variant Lung cancer [RCV000090958] Chr1:74268312 [GRCh38]
Chr1:74733996 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1		 pathogenic
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3		 pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1 copy number loss See cases [RCV000053842] Chr1:59632500..76730877 [GRCh38]
Chr1:60098172..77196562 [GRCh37]
Chr1:59870760..76969150 [NCBI36]
Chr1:1p32.1-31.1		 pathogenic
NM_015978.3(TNNI3K):c.1628C>T (p.Ser543Leu) single nucleotide variant not provided [RCV003675002] Chr1:74369546 [GRCh38]
Chr1:74835230 [GRCh37]
Chr1:74607818 [NCBI36]
Chr1:1p31.1		 uncertain significance|not provided
NM_015978.2(TNNI3K):c.2441C>T (p.Ser814Phe) single nucleotide variant Malignant melanoma [RCV000064889] Chr1:74543915 [GRCh38]
Chr1:75009599 [GRCh37]
Chr1:74782187 [NCBI36]
Chr1:1p31.1		 not provided
NM_015978.3(TNNI3K):c.965T>G (p.Val322Gly) single nucleotide variant not provided [RCV001302859] Chr1:74353298 [GRCh38]
Chr1:74818982 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 copy number loss See cases [RCV000136913] Chr1:58819605..86098611 [GRCh38]
Chr1:59285277..86564294 [GRCh37]
Chr1:59057865..86336882 [NCBI36]
Chr1:1p32.1-22.3		 pathogenic
GRCh38/hg38 1p31.1(chr1:74320173-74823743)x3 copy number gain See cases [RCV000141222] Chr1:74320173..74823743 [GRCh38]
Chr1:74785857..75289427 [GRCh37]
Chr1:74558445..75062015 [NCBI36]
Chr1:1p31.1		 uncertain significance
GRCh38/hg38 1p31.1(chr1:74261660-75056208)x3 copy number gain See cases [RCV000142355] Chr1:74261660..75056208 [GRCh38]
Chr1:74727344..75521892 [GRCh37]
Chr1:74499932..75294480 [NCBI36]
Chr1:1p31.1		 uncertain significance
GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3 copy number gain See cases [RCV000142452] Chr1:64072618..75518432 [GRCh38]
Chr1:64538290..75984117 [GRCh37]
Chr1:64310878..75756705 [NCBI36]
Chr1:1p31.3-31.1		 pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1 copy number loss See cases [RCV000143129] Chr1:66865125..77123381 [GRCh38]
Chr1:67330808..77589066 [GRCh37]
Chr1:67103396..77361654 [NCBI36]
Chr1:1p31.3-31.1		 pathogenic
NM_015978.3(TNNI3K):c.1577G>A (p.Gly526Asp) single nucleotide variant Atrial conduction disease [RCV000148950]|not provided [RCV001850021] Chr1:74369495 [GRCh38]
Chr1:74835179 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|not provided
NM_015978.3(TNNI3K):c.1615A>G (p.Thr539Ala) single nucleotide variant Atrial conduction disease [RCV000721145]|not provided [RCV002534994] Chr1:74369533 [GRCh38]
Chr1:74835217 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p31.3-31.1(chr1:63252828-77402595)x1 copy number loss See cases [RCV000446378] Chr1:63252828..77402595 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1 copy number loss See cases [RCV000510161] Chr1:72044544..92505091 [GRCh37]
Chr1:1p31.1-22.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1 copy number loss See cases [RCV000511392] Chr1:64321264..88153669 [GRCh37]
Chr1:1p31.3-22.3		 pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3 copy number gain See cases [RCV000510973] Chr1:74848936..80324850 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.997A>T (p.Ile333Phe) single nucleotide variant Inborn genetic diseases [RCV003283093] Chr1:74353330 [GRCh38]
Chr1:74819014 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:72578280-77429541)x3 copy number gain not provided [RCV000585144] Chr1:72578280..77429541 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1 copy number loss See cases [RCV000512152] Chr1:61351024..79583933 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p31.1(chr1:72103442-77186974)x3 copy number gain not provided [RCV000684586] Chr1:72103442..77186974 [GRCh37]
Chr1:1p31.1		 likely pathogenic
GRCh37/hg19 1p31.1(chr1:72859282-75395703)x3 copy number gain not provided [RCV000684587] Chr1:72859282..75395703 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:74125095-75208561)x1 copy number loss not provided [RCV000684588] Chr1:74125095..75208561 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.333+2T>C single nucleotide variant Atrial conduction disease [RCV000721146]|not provided [RCV003727814] Chr1:74250771 [GRCh38]
Chr1:74716455 [GRCh37]
Chr1:1p31.1		 pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p31.1(chr1:74492543-74716443)x3 copy number gain not provided [RCV000749030] Chr1:74492543..74716443 [GRCh37]
Chr1:1p31.1		 benign
GRCh37/hg19 1p31.1(chr1:74535130-74704513)x3 copy number gain not provided [RCV000749031] Chr1:74535130..74704513 [GRCh37]
Chr1:1p31.1		 benign
GRCh37/hg19 1p31.1(chr1:74575139-74702475)x3 copy number gain not provided [RCV000749032] Chr1:74575139..74702475 [GRCh37]
Chr1:1p31.1		 benign
GRCh37/hg19 1p31.1(chr1:74671519-74730853)x1 copy number loss not provided [RCV000749033] Chr1:74671519..74730853 [GRCh37]
Chr1:1p31.1		 benign
GRCh37/hg19 1p31.1(chr1:74743034-74905205)x1 copy number loss not provided [RCV000749034] Chr1:74743034..74905205 [GRCh37]
Chr1:1p31.1		 benign
GRCh37/hg19 1p31.1(chr1:74893793-75074719)x3 copy number gain not provided [RCV000749035] Chr1:74893793..75074719 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.2131G>A (p.Glu711Lys) single nucleotide variant not provided [RCV001907818] Chr1:74489198 [GRCh38]
Chr1:74954882 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.512T>C (p.Leu171Ser) single nucleotide variant TNNI3K-related disorder [RCV003968488]|not provided [RCV002073290]|not specified [RCV001700640] Chr1:74331517 [GRCh38]
Chr1:74797201 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_015978.3(TNNI3K):c.2225C>T (p.Pro742Leu) single nucleotide variant not provided [RCV001700912] Chr1:74492140 [GRCh38]
Chr1:74957824 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.682+31A>G single nucleotide variant not provided [RCV001725487] Chr1:74336180 [GRCh38]
Chr1:74801864 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1027+300_1027+301del deletion not provided [RCV001669314] Chr1:74353645..74353646 [GRCh38]
Chr1:74819329..74819330 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.682+290C>T single nucleotide variant not provided [RCV001709915] Chr1:74336439 [GRCh38]
Chr1:74802123 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.236-46C>A single nucleotide variant not provided [RCV001680380] Chr1:74250626 [GRCh38]
Chr1:74716310 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1620A>G (p.Gln540=) single nucleotide variant not provided [RCV000967917] Chr1:74369538 [GRCh38]
Chr1:74835222 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1573G>A (p.Val525Met) single nucleotide variant not provided [RCV000788869] Chr1:74369491 [GRCh38]
Chr1:74835175 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.969A>G (p.Lys323=) single nucleotide variant Atrial conduction disease [RCV003344118]|TNNI3K-related disorder [RCV003895431]|not provided [RCV000886279] Chr1:74353302 [GRCh38]
Chr1:74818986 [GRCh37]
Chr1:1p31.1		 likely benign
GRCh37/hg19 1p31.1(chr1:71410579-78131158) copy number gain not provided [RCV000767771] Chr1:71410579..78131158 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_015978.3(TNNI3K):c.323C>T (p.Ala108Val) single nucleotide variant TNNI3K-related disorder [RCV003926149]|not provided [RCV000961284] Chr1:74250759 [GRCh38]
Chr1:74716443 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) single nucleotide variant Atrial conduction disease [RCV000768402]|not provided [RCV001869062] Chr1:74492217 [GRCh38]
Chr1:74957901 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_015978.3(TNNI3K):c.1560C>T (p.Cys520=) single nucleotide variant not provided [RCV000940853] Chr1:74369478 [GRCh38]
Chr1:74835162 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.762G>T (p.Leu254=) single nucleotide variant TNNI3K-related disorder [RCV003910742]|not provided [RCV000900528] Chr1:74342921 [GRCh38]
Chr1:74808605 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.334-8C>T single nucleotide variant Atrial conduction disease [RCV003346236]|not provided [RCV000973111]|not specified [RCV001724200] Chr1:74271590 [GRCh38]
Chr1:74737274 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.720_721insGGGACTCCAT (p.Phe241fs) insertion not provided [RCV000964108] Chr1:74342872..74342873 [GRCh38]
Chr1:74808556..74808557 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1788C>G (p.Leu596=) single nucleotide variant not provided [RCV000964109] Chr1:74436095 [GRCh38]
Chr1:74901779 [GRCh37]
Chr1:1p31.1		 likely benign
GRCh37/hg19 1p31.1(chr1:74767843-74919485)x1 copy number loss not provided [RCV000848965] Chr1:74767843..74919485 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1 copy number loss not provided [RCV000847457] Chr1:66868168..77106425 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p31.1(chr1:74690540-74796514)x1 copy number loss not provided [RCV000846750] Chr1:74690540..74796514 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.235G>A (p.Gly79Ser) single nucleotide variant not provided [RCV000788779] Chr1:74249544 [GRCh38]
Chr1:74715228 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1 copy number loss not provided [RCV000846441] Chr1:67851233..86101340 [GRCh37]
Chr1:1p31.3-22.3		 pathogenic
Single allele deletion not provided [RCV000844927] Chr1:66085524..88429789 [GRCh37]
Chr1:1p31.3-22.2		 not provided
NM_015978.3(TNNI3K):c.2149A>G (p.Met717Val) single nucleotide variant TNNI3K-related disorder [RCV003958391]|not provided [RCV000916727] Chr1:74489216 [GRCh38]
Chr1:74954900 [GRCh37]
Chr1:1p31.1		 likely benign
GRCh37/hg19 1p31.1(chr1:74675385-74892635)x1 copy number loss not provided [RCV000849790] Chr1:74675385..74892635 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.500T>C (p.Phe167Ser) single nucleotide variant Primary dilated cardiomyopathy [RCV000850353]|not provided [RCV002538354] Chr1:74331505 [GRCh38]
Chr1:74797189 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:74969395-75264251)x3 copy number gain not provided [RCV001005112] Chr1:74969395..75264251 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.149+56T>A single nucleotide variant not provided [RCV001673758] Chr1:74236266 [GRCh38]
Chr1:74701950 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.682+131T>G single nucleotide variant not provided [RCV001678558] Chr1:74336280 [GRCh38]
Chr1:74801964 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.445-271A>G single nucleotide variant not provided [RCV001561376] Chr1:74331179 [GRCh38]
Chr1:74796863 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1825+13A>C single nucleotide variant Atrial conduction disease [RCV003346655]|not provided [RCV001707230] Chr1:74436145 [GRCh38]
Chr1:74901829 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1772+152T>A single nucleotide variant not provided [RCV001652165] Chr1:74370544 [GRCh38]
Chr1:74836228 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.777G>C (p.Leu259Phe) single nucleotide variant TNNI3K-related disorder [RCV003931284]|not provided [RCV001699684] Chr1:74342936 [GRCh38]
Chr1:74808620 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.465A>G (p.Gln155=) single nucleotide variant TNNI3K-related disorder [RCV003910975]|not provided [RCV001723478] Chr1:74331470 [GRCh38]
Chr1:74797154 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_015978.3(TNNI3K):c.444+205A>G single nucleotide variant not provided [RCV001651714] Chr1:74271913 [GRCh38]
Chr1:74737597 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.333+78del deletion not provided [RCV001663338] Chr1:74250832 [GRCh38]
Chr1:74716516 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1878+34A>G single nucleotide variant not provided [RCV001669070] Chr1:74436560 [GRCh38]
Chr1:74902244 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1838T>C (p.Leu613Pro) single nucleotide variant not provided [RCV001889109] Chr1:74436486 [GRCh38]
Chr1:74902170 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.*33T>C single nucleotide variant not provided [RCV001694679] Chr1:74544015 [GRCh38]
Chr1:75009699 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1772+78T>G single nucleotide variant not provided [RCV001673423] Chr1:74370470 [GRCh38]
Chr1:74836154 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.788C>T (p.Pro263Leu) single nucleotide variant Atrial conduction disease [RCV003346226]|not provided [RCV000952809] Chr1:74342947 [GRCh38]
Chr1:74808631 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_015978.3(TNNI3K):c.1878+10T>C single nucleotide variant not provided [RCV000887911] Chr1:74436536 [GRCh38]
Chr1:74902220 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1668-184T>C single nucleotide variant not provided [RCV001539495] Chr1:74370104 [GRCh38]
Chr1:74835788 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.451G>C (p.Asp151His) single nucleotide variant not provided [RCV000910453] Chr1:74331456 [GRCh38]
Chr1:74797140 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1910C>T (p.Thr637Met) single nucleotide variant TNNI3K-related disorder [RCV003910725]|not provided [RCV000899809] Chr1:74439521 [GRCh38]
Chr1:74905205 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.933-78G>A single nucleotide variant not provided [RCV001597853] Chr1:74353188 [GRCh38]
Chr1:74818872 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1921C>T (p.Arg641Trp) single nucleotide variant Atrial conduction disease [RCV002465034]|not provided [RCV003111566] Chr1:74439532 [GRCh38]
Chr1:74905216 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1773-5del deletion not provided [RCV001637628] Chr1:74436056 [GRCh38]
Chr1:74901740 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.491A>G (p.Asp164Gly) single nucleotide variant not provided [RCV003549044]|not specified [RCV004298643] Chr1:74331496 [GRCh38]
Chr1:74797180 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:74734130-75521892)x3 copy number gain not provided [RCV002473645] Chr1:74734130..75521892 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2431+79G>A single nucleotide variant not provided [RCV001597601] Chr1:74540392 [GRCh38]
Chr1:75006076 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1722G>C (p.Met574Ile) single nucleotide variant not provided [RCV001723315] Chr1:74370342 [GRCh38]
Chr1:74836026 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1879-72A>G single nucleotide variant not provided [RCV001721640] Chr1:74439418 [GRCh38]
Chr1:74905102 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.334-201A>G single nucleotide variant not provided [RCV001696697] Chr1:74271397 [GRCh38]
Chr1:74737081 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1772+128C>T single nucleotide variant not provided [RCV001617375] Chr1:74370520 [GRCh38]
Chr1:74836204 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.2182-85A>G single nucleotide variant not provided [RCV001677046] Chr1:74492012 [GRCh38]
Chr1:74957696 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.41-135A>T single nucleotide variant not provided [RCV001671265] Chr1:74235967 [GRCh38]
Chr1:74701651 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1051G>A (p.Gly351Ser) single nucleotide variant not provided [RCV001169987] Chr1:74354003 [GRCh38]
Chr1:74819687 [GRCh37]
Chr1:1p31.1		 likely benign|conflicting interpretations of pathogenicity
NM_015978.3(TNNI3K):c.333+78dup duplication not provided [RCV001669059] Chr1:74250831..74250832 [GRCh38]
Chr1:74716515..74716516 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1878+68C>T single nucleotide variant not provided [RCV001684888] Chr1:74436594 [GRCh38]
Chr1:74902278 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.40+120T>A single nucleotide variant not provided [RCV001684953] Chr1:74235611 [GRCh38]
Chr1:74701295 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.334-116A>C single nucleotide variant not provided [RCV001681900] Chr1:74271482 [GRCh38]
Chr1:74737166 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1178-183A>G single nucleotide variant not provided [RCV001707935] Chr1:74367073 [GRCh38]
Chr1:74832757 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.2182-10C>T single nucleotide variant not provided [RCV001725235]|not specified [RCV001699987] Chr1:74492087 [GRCh38]
Chr1:74957771 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_015978.3(TNNI3K):c.2431+30A>G single nucleotide variant Atrial conduction disease [RCV001838752]|not provided [RCV001667518] Chr1:74540343 [GRCh38]
Chr1:75006027 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1773-20_1773-19insC insertion Atrial conduction disease [RCV003346649]|not provided [RCV001682270] Chr1:74436060..74436061 [GRCh38]
Chr1:74901744..74901745 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1773-6_1773-5del deletion not provided [RCV001649447] Chr1:74436056..74436057 [GRCh38]
Chr1:74901740..74901741 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.333+71T>C single nucleotide variant not provided [RCV001694770] Chr1:74250840 [GRCh38]
Chr1:74716524 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.2351+144C>T single nucleotide variant not provided [RCV001668784] Chr1:74492410 [GRCh38]
Chr1:74958094 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.2431+308del deletion not provided [RCV001667657] Chr1:74540607 [GRCh38]
Chr1:75006291 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.2352-142A>G single nucleotide variant not provided [RCV001707062] Chr1:74540092 [GRCh38]
Chr1:75005776 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1027+33T>G single nucleotide variant Atrial conduction disease [RCV001838726]|not provided [RCV001645624] Chr1:74353393 [GRCh38]
Chr1:74819077 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.656T>C (p.Leu219Ser) single nucleotide variant not provided [RCV001724394]|not specified [RCV001700847] Chr1:74336123 [GRCh38]
Chr1:74801807 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_001112808.3(FPGT-TNNI3K):c.2508C>A (p.Asn836Lys) single nucleotide variant Atrial conduction disease [RCV001198229] Chr1:74492120 [GRCh38]
Chr1:74957804 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:74129905-74702475)x3 copy number gain See cases [RCV001007449] Chr1:74129905..74702475 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2157dup (p.Glu720fs) duplication Atrial conduction disease [RCV003346354]|See cases [RCV001196812]|not provided [RCV001863110] Chr1:74489223..74489224 [GRCh38]
Chr1:74954907..74954908 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1995C>A (p.Phe665Leu) single nucleotide variant Atrial conduction disease [RCV003346353]|not provided [RCV001196541] Chr1:74439606 [GRCh38]
Chr1:74905290 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2057T>C (p.Ile686Thr) single nucleotide variant Atrial conduction disease [RCV003346428]|TNNI3K-related disorder [RCV003918838]|not provided [RCV001290403] Chr1:74463486 [GRCh38]
Chr1:74929170 [GRCh37]
Chr1:1p31.1		 benign|likely benign|not provided
GRCh37/hg19 1p31.1(chr1:74091361-74706387)x3 copy number gain not provided [RCV001259072] Chr1:74091361..74706387 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2110G>A (p.Ala704Thr) single nucleotide variant not provided [RCV002001981] Chr1:74463539 [GRCh38]
Chr1:74929223 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.350T>A (p.Ile117Asn) single nucleotide variant not provided [RCV001311637] Chr1:74271614 [GRCh38]
Chr1:74737298 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.187C>T (p.Arg63Cys) single nucleotide variant Meniere disease [RCV004570863]|not provided [RCV001355907] Chr1:74249496 [GRCh38]
Chr1:74715180 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001112808.3(FPGT-TNNI3K):c.1479A>C (p.Lys493Asn) single nucleotide variant not provided [RCV001354713] Chr1:74354128 [GRCh38]
Chr1:74819812 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.827+4A>C single nucleotide variant not provided [RCV001354326] Chr1:74342990 [GRCh38]
Chr1:74808674 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1178-1G>A single nucleotide variant not provided [RCV001356756] Chr1:74367255 [GRCh38]
Chr1:74832939 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.663A>T (p.Glu221Asp) single nucleotide variant Inborn genetic diseases [RCV003295189] Chr1:74336130 [GRCh38]
Chr1:74801814 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1773-7_1773-5del deletion not provided [RCV001715275] Chr1:74436056..74436058 [GRCh38]
Chr1:74901740..74901742 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1878+195G>T single nucleotide variant not provided [RCV001680381] Chr1:74436721 [GRCh38]
Chr1:74902405 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.2181+137T>G single nucleotide variant not provided [RCV001715265] Chr1:74489385 [GRCh38]
Chr1:74955069 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.2254C>T (p.Arg752Trp) single nucleotide variant not provided [RCV001699715] Chr1:74492169 [GRCh38]
Chr1:74957853 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2012-50T>C single nucleotide variant not provided [RCV001652351] Chr1:74463391 [GRCh38]
Chr1:74929075 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1349C>T (p.Ala450Val) single nucleotide variant not provided [RCV001730322] Chr1:74369049 [GRCh38]
Chr1:74834733 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2308G>C (p.Glu770Gln) single nucleotide variant Inborn genetic diseases [RCV004040010]|not provided [RCV001725910] Chr1:74492223 [GRCh38]
Chr1:74957907 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1528G>T (p.Val510Leu) single nucleotide variant Meniere disease [RCV004571071]|not provided [RCV001725890] Chr1:74369446 [GRCh38]
Chr1:74835130 [GRCh37]
Chr1:1p31.1		 likely benign|uncertain significance
NM_015978.3(TNNI3K):c.1561G>A (p.Val521Ile) single nucleotide variant Atrial conduction disease [RCV003346675]|not provided [RCV001772656] Chr1:74369479 [GRCh38]
Chr1:74835163 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2012C>T (p.Ala671Val) single nucleotide variant Atrial conduction disease [RCV003346677]|not provided [RCV001763422] Chr1:74463441 [GRCh38]
Chr1:74929125 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1668G>A (p.Arg556=) single nucleotide variant not provided [RCV001755082] Chr1:74370288 [GRCh38]
Chr1:74835972 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1435A>G (p.Lys479Glu) single nucleotide variant not provided [RCV001755089] Chr1:74369227 [GRCh38]
Chr1:74834911 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.503del (p.Phe168fs) deletion Atrial conduction disease [RCV003346676]|TNNI3K-related disorder [RCV003394240]|not provided [RCV001772657] Chr1:74331502 [GRCh38]
Chr1:74797186 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1839A>G (p.Leu613=) single nucleotide variant TNNI3K-related disorder [RCV003956375]|not provided [RCV001796928]|not specified [RCV001795518] Chr1:74436487 [GRCh38]
Chr1:74902171 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_015978.3(TNNI3K):c.1153T>C (p.Cys385Arg) single nucleotide variant Atrial conduction disease [RCV003346663]|not provided [RCV001754299] Chr1:74354105 [GRCh38]
Chr1:74819789 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1538T>C (p.Leu513Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 2 [RCV001807868] Chr1:74369456 [GRCh38]
Chr1:74835140 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_015978.3(TNNI3K):c.440T>A (p.Leu147Gln) single nucleotide variant not provided [RCV001929151] Chr1:74271704 [GRCh38]
Chr1:74737388 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.730C>T (p.Arg244Ter) single nucleotide variant not provided [RCV001950011] Chr1:74342889 [GRCh38]
Chr1:74808573 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1487C>G (p.Thr496Ser) single nucleotide variant not provided [RCV001895935] Chr1:74369405 [GRCh38]
Chr1:74835089 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1178-6A>G single nucleotide variant not provided [RCV001971737] Chr1:74367250 [GRCh38]
Chr1:74832934 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1213A>G (p.Lys405Glu) single nucleotide variant not provided [RCV001984366] Chr1:74367291 [GRCh38]
Chr1:74832975 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2273G>C (p.Ser758Thr) single nucleotide variant not provided [RCV001988596] Chr1:74492188 [GRCh38]
Chr1:74957872 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957) copy number loss not specified [RCV002053392] Chr1:68180293..92731957 [GRCh37]
Chr1:1p31.3-22.1		 pathogenic
NM_015978.3(TNNI3K):c.1415-5T>C single nucleotide variant not provided [RCV001970872] Chr1:74369202 [GRCh38]
Chr1:74834886 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1759C>G (p.Arg587Gly) single nucleotide variant not provided [RCV001895122] Chr1:74370379 [GRCh38]
Chr1:74836063 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.149+5A>T single nucleotide variant not provided [RCV002025068] Chr1:74236215 [GRCh38]
Chr1:74701899 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.504C>A (p.Phe168Leu) single nucleotide variant not provided [RCV001896791] Chr1:74331509 [GRCh38]
Chr1:74797193 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.77T>C (p.Ile26Thr) single nucleotide variant not provided [RCV001950748] Chr1:74236138 [GRCh38]
Chr1:74701822 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1490A>G (p.Tyr497Cys) single nucleotide variant not provided [RCV001895233] Chr1:74369408 [GRCh38]
Chr1:74835092 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1672C>T (p.Leu558Phe) single nucleotide variant not provided [RCV001874572] Chr1:74370292 [GRCh38]
Chr1:74835976 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2033_2034insAT (p.Tyr679fs) insertion not provided [RCV001970299] Chr1:74463462..74463463 [GRCh38]
Chr1:74929146..74929147 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2159A>G (p.Glu720Gly) single nucleotide variant not provided [RCV002025503] Chr1:74489226 [GRCh38]
Chr1:74954910 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.929A>T (p.His310Leu) single nucleotide variant not provided [RCV001929678] Chr1:74343176 [GRCh38]
Chr1:74808860 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1535T>C (p.Ile512Thr) single nucleotide variant not provided [RCV001965409] Chr1:74369453 [GRCh38]
Chr1:74835137 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1286C>T (p.Pro429Leu) single nucleotide variant not provided [RCV001895587] Chr1:74367929 [GRCh38]
Chr1:74833613 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1088G>C (p.Gly363Ala) single nucleotide variant not provided [RCV002008845] Chr1:74354040 [GRCh38]
Chr1:74819724 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74715123)_(74737412_?)del deletion not provided [RCV001871132] Chr1:74715123..74737412 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.368G>C (p.Ser123Thr) single nucleotide variant not provided [RCV002021408] Chr1:74271632 [GRCh38]
Chr1:74737316 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1609A>G (p.Ile537Val) single nucleotide variant not provided [RCV002022350] Chr1:74369527 [GRCh38]
Chr1:74835211 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.499T>C (p.Phe167Leu) single nucleotide variant not provided [RCV001893996] Chr1:74331504 [GRCh38]
Chr1:74797188 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1321G>A (p.Glu441Lys) single nucleotide variant not provided [RCV002021693] Chr1:74367964 [GRCh38]
Chr1:74833648 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1667+1G>A single nucleotide variant not provided [RCV002022009] Chr1:74369586 [GRCh38]
Chr1:74835270 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.164T>G (p.Phe55Cys) single nucleotide variant Inborn genetic diseases [RCV003355639]|not provided [RCV001910172] Chr1:74249473 [GRCh38]
Chr1:74715157 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1523G>A (p.Arg508Gln) single nucleotide variant not provided [RCV001945416] Chr1:74369441 [GRCh38]
Chr1:74835125 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1084A>G (p.Asn362Asp) single nucleotide variant not provided [RCV001966486] Chr1:74354036 [GRCh38]
Chr1:74819720 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2119G>T (p.Glu707Ter) single nucleotide variant not provided [RCV001891434] Chr1:74463548 [GRCh38]
Chr1:74929232 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1437del (p.Gly480fs) deletion not provided [RCV002039641] Chr1:74369227 [GRCh38]
Chr1:74834911 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:73209151-74812480)x3 copy number gain not provided [RCV001834427] Chr1:73209151..74812480 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2432G>C (p.Gly811Ala) single nucleotide variant not provided [RCV002023170] Chr1:74543906 [GRCh38]
Chr1:75009590 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.865A>G (p.Ile289Val) single nucleotide variant not provided [RCV001889410] Chr1:74343112 [GRCh38]
Chr1:74808796 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.245C>G (p.Ser82Ter) single nucleotide variant not provided [RCV001910692] Chr1:74250681 [GRCh38]
Chr1:74716365 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.40+2T>C single nucleotide variant not provided [RCV002040970] Chr1:74235493 [GRCh38]
Chr1:74701177 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1536T>G (p.Ile512Met) single nucleotide variant not provided [RCV001910864] Chr1:74369454 [GRCh38]
Chr1:74835138 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1417T>G (p.Ser473Ala) single nucleotide variant not provided [RCV002039487] Chr1:74369209 [GRCh38]
Chr1:74834893 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1691T>A (p.Leu564Ter) single nucleotide variant not provided [RCV002041277] Chr1:74370311 [GRCh38]
Chr1:74835995 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1645T>A (p.Ser549Thr) single nucleotide variant not provided [RCV001984262] Chr1:74369563 [GRCh38]
Chr1:74835247 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2352-3C>T single nucleotide variant not provided [RCV001967211] Chr1:74540231 [GRCh38]
Chr1:75005915 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.834C>A (p.Cys278Ter) single nucleotide variant not provided [RCV001872861] Chr1:74343081 [GRCh38]
Chr1:74808765 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2053C>T (p.Pro685Ser) single nucleotide variant Atrial conduction disease [RCV003886534]|not provided [RCV001926428] Chr1:74463482 [GRCh38]
Chr1:74929166 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2121A>C (p.Glu707Asp) single nucleotide variant not provided [RCV001863358] Chr1:74463550 [GRCh38]
Chr1:74929234 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.771T>A (p.Ser257Arg) single nucleotide variant not provided [RCV002005821] Chr1:74342930 [GRCh38]
Chr1:74808614 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1826-1G>A single nucleotide variant not provided [RCV001927752] Chr1:74436473 [GRCh38]
Chr1:74902157 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1668-1G>A single nucleotide variant not provided [RCV002024351] Chr1:74370287 [GRCh38]
Chr1:74835971 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.596T>C (p.Val199Ala) single nucleotide variant not provided [RCV001895347] Chr1:74336063 [GRCh38]
Chr1:74801747 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:74691980-74799045) copy number loss not specified [RCV002053414] Chr1:74691980..74799045 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1459G>C (p.Val487Leu) single nucleotide variant not provided [RCV001945297] Chr1:74369251 [GRCh38]
Chr1:74834935 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2240A>G (p.Asp747Gly) single nucleotide variant not provided [RCV001912837] Chr1:74492155 [GRCh38]
Chr1:74957839 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1028-3C>T single nucleotide variant not provided [RCV001970245] Chr1:74353977 [GRCh38]
Chr1:74819661 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1171G>T (p.Glu391Ter) single nucleotide variant not provided [RCV002002531] Chr1:74354123 [GRCh38]
Chr1:74819807 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.333+3A>C single nucleotide variant not provided [RCV001983808] Chr1:74250772 [GRCh38]
Chr1:74716456 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2477G>A (p.Arg826Gln) single nucleotide variant not provided [RCV002022023] Chr1:74543951 [GRCh38]
Chr1:75009635 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:74989355-75124878) copy number loss not specified [RCV002053425] Chr1:74989355..75124878 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.150-5T>C single nucleotide variant not provided [RCV002021015] Chr1:74249454 [GRCh38]
Chr1:74715138 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2258G>A (p.Gly753Glu) single nucleotide variant not provided [RCV002006154] Chr1:74492173 [GRCh38]
Chr1:74957857 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2013G>A (p.Ala671=) single nucleotide variant not provided [RCV001948197] Chr1:74463442 [GRCh38]
Chr1:74929126 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.457C>G (p.Leu153Val) single nucleotide variant not provided [RCV001969712] Chr1:74331462 [GRCh38]
Chr1:74797146 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2314G>A (p.Ala772Thr) single nucleotide variant not provided [RCV002039258] Chr1:74492229 [GRCh38]
Chr1:74957913 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.622_627del (p.Ser208_Ala209del) deletion not provided [RCV001871412] Chr1:74336086..74336091 [GRCh38]
Chr1:74801770..74801775 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1885C>T (p.Arg629Cys) single nucleotide variant not provided [RCV001913549] Chr1:74439496 [GRCh38]
Chr1:74905180 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1076T>G (p.Leu359Ter) single nucleotide variant not provided [RCV002043863] Chr1:74354028 [GRCh38]
Chr1:74819712 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2195C>T (p.Ala732Val) single nucleotide variant not provided [RCV001946567] Chr1:74492110 [GRCh38]
Chr1:74957794 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.176A>G (p.Asn59Ser) single nucleotide variant Inborn genetic diseases [RCV004970609]|not provided [RCV001968027] Chr1:74249485 [GRCh38]
Chr1:74715169 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_015978.3(TNNI3K):c.551G>A (p.Arg184His) single nucleotide variant not provided [RCV001985129] Chr1:74336018 [GRCh38]
Chr1:74801702 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.420del (p.Ile140fs) deletion TNNI3K-related disorder [RCV003407958]|not provided [RCV001945763] Chr1:74271683 [GRCh38]
Chr1:74737367 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1417T>C (p.Ser473Pro) single nucleotide variant not provided [RCV002003138] Chr1:74369209 [GRCh38]
Chr1:74834893 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.599G>A (p.Gly200Glu) single nucleotide variant not provided [RCV001890618] Chr1:74336066 [GRCh38]
Chr1:74801750 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1834T>C (p.Phe612Leu) single nucleotide variant not provided [RCV002042754] Chr1:74436482 [GRCh38]
Chr1:74902166 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1178-2A>G single nucleotide variant not provided [RCV001967062] Chr1:74367254 [GRCh38]
Chr1:74832938 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2078C>G (p.Pro693Arg) single nucleotide variant not provided [RCV001911120] Chr1:74463507 [GRCh38]
Chr1:74929191 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.787C>T (p.Pro263Ser) single nucleotide variant not provided [RCV001892897] Chr1:74342946 [GRCh38]
Chr1:74808630 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.912C>G (p.Phe304Leu) single nucleotide variant Atrial conduction disease [RCV003348702]|Inborn genetic diseases [RCV002569341]|not provided [RCV002005445] Chr1:74343159 [GRCh38]
Chr1:74808843 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1333A>G (p.Ile445Val) single nucleotide variant TNNI3K-related disorder [RCV003402039]|not provided [RCV002042454] Chr1:74369033 [GRCh38]
Chr1:74834717 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2099G>A (p.Arg700Gln) single nucleotide variant not provided [RCV002022421] Chr1:74463528 [GRCh38]
Chr1:74929212 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1155T>G (p.Cys385Trp) single nucleotide variant not provided [RCV002041943] Chr1:74354107 [GRCh38]
Chr1:74819791 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1922G>A (p.Arg641Gln) single nucleotide variant not provided [RCV002041970] Chr1:74439533 [GRCh38]
Chr1:74905217 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1918A>G (p.Thr640Ala) single nucleotide variant not provided [RCV001889446] Chr1:74439529 [GRCh38]
Chr1:74905213 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.380T>C (p.Ile127Thr) single nucleotide variant Atrial conduction disease [RCV003994345]|not provided [RCV001912305] Chr1:74271644 [GRCh38]
Chr1:74737328 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1526A>T (p.Glu509Val) single nucleotide variant Meniere disease [RCV004571849]|not provided [RCV001968799] Chr1:74369444 [GRCh38]
Chr1:74835128 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.524C>T (p.Ala175Val) single nucleotide variant not provided [RCV002002187] Chr1:74331529 [GRCh38]
Chr1:74797213 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1264+1G>A single nucleotide variant not provided [RCV001889522] Chr1:74367343 [GRCh38]
Chr1:74833027 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1831A>C (p.Arg611=) single nucleotide variant not provided [RCV002007318] Chr1:74436479 [GRCh38]
Chr1:74902163 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1125G>C (p.Arg375Ser) single nucleotide variant not provided [RCV001965231] Chr1:74354077 [GRCh38]
Chr1:74819761 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1172A>G (p.Glu391Gly) single nucleotide variant Inborn genetic diseases [RCV004681289]|not provided [RCV001892331] Chr1:74354124 [GRCh38]
Chr1:74819808 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2038C>T (p.His680Tyr) single nucleotide variant not provided [RCV002040734] Chr1:74463467 [GRCh38]
Chr1:74929151 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:74010838-74849251)x3 copy number gain not provided [RCV001827801] Chr1:74010838..74849251 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1013G>T (p.Arg338Met) single nucleotide variant not provided [RCV002036517] Chr1:74353346 [GRCh38]
Chr1:74819030 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1629_1630del (p.Gly545fs) deletion TNNI3K-related disorder [RCV003984125]|not provided [RCV002037606] Chr1:74369547..74369548 [GRCh38]
Chr1:74835231..74835232 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74701136)_(74819833_?)del deletion not provided [RCV001943109] Chr1:74701136..74819833 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.35G>A (p.Cys12Tyr) single nucleotide variant not provided [RCV001951706] Chr1:74235486 [GRCh38]
Chr1:74701170 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1557del (p.Cys520fs) deletion not provided [RCV001944668] Chr1:74369473 [GRCh38]
Chr1:74835157 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1208A>G (p.His403Arg) single nucleotide variant not provided [RCV001993751] Chr1:74367286 [GRCh38]
Chr1:74832970 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1634G>T (p.Gly545Val) single nucleotide variant not provided [RCV001944788] Chr1:74369552 [GRCh38]
Chr1:74835236 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1003C>G (p.His335Asp) single nucleotide variant not provided [RCV001879093] Chr1:74353336 [GRCh38]
Chr1:74819020 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2033C>A (p.Ala678Asp) single nucleotide variant not provided [RCV001997300] Chr1:74463462 [GRCh38]
Chr1:74929146 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.956_966dup (p.Lys323delinsLeuThrTer) duplication not provided [RCV001944167] Chr1:74353288..74353289 [GRCh38]
Chr1:74818972..74818973 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2255G>A (p.Arg752Gln) single nucleotide variant not provided [RCV001944350] Chr1:74492170 [GRCh38]
Chr1:74957854 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.458T>C (p.Leu153Pro) single nucleotide variant not provided [RCV001903974] Chr1:74331463 [GRCh38]
Chr1:74797147 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74797114)_(74808883_?)del deletion not provided [RCV002045946] Chr1:74797114..74808883 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.278G>A (p.Arg93His) single nucleotide variant Atrial conduction disease [RCV003348652]|Inborn genetic diseases [RCV002561446]|not provided [RCV001982235] Chr1:74250714 [GRCh38]
Chr1:74716398 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2489G>C (p.Ser830Thr) single nucleotide variant not provided [RCV002039091] Chr1:74543963 [GRCh38]
Chr1:75009647 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.859A>C (p.Lys287Gln) single nucleotide variant not provided [RCV002049948] Chr1:74343106 [GRCh38]
Chr1:74808790 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1668-5T>C single nucleotide variant not provided [RCV002038656] Chr1:74370283 [GRCh38]
Chr1:74835967 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2310A>G (p.Glu770=) single nucleotide variant not provided [RCV002037398] Chr1:74492225 [GRCh38]
Chr1:74957909 [GRCh37]
Chr1:1p31.1		 likely benign|uncertain significance
NM_015978.3(TNNI3K):c.121G>T (p.Glu41Ter) single nucleotide variant not provided [RCV001940081] Chr1:74236182 [GRCh38]
Chr1:74701866 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.448G>T (p.Ala150Ser) single nucleotide variant not provided [RCV002017031] Chr1:74331453 [GRCh38]
Chr1:74797137 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1472G>A (p.Arg491His) single nucleotide variant not provided [RCV001979938] Chr1:74369264 [GRCh38]
Chr1:74834948 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1796A>G (p.Asp599Gly) single nucleotide variant not provided [RCV001962299] Chr1:74436103 [GRCh38]
Chr1:74901787 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74701136)_(74797252_?)del deletion not provided [RCV001918969] Chr1:74701136..74797252 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1760G>A (p.Arg587His) single nucleotide variant not provided [RCV001990897] Chr1:74370380 [GRCh38]
Chr1:74836064 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1652T>C (p.Leu551Pro) single nucleotide variant not provided [RCV001994936] Chr1:74369570 [GRCh38]
Chr1:74835254 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1414+19A>G single nucleotide variant not provided [RCV002011588] Chr1:74369133 [GRCh38]
Chr1:74834817 [GRCh37]
Chr1:1p31.1		 likely benign|uncertain significance
NM_015978.3(TNNI3K):c.921_932+34del deletion not provided [RCV002011635] Chr1:74343164..74343209 [GRCh38]
Chr1:74808848..74808893 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.76A>G (p.Ile26Val) single nucleotide variant not provided [RCV001870389] Chr1:74236137 [GRCh38]
Chr1:74701821 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.544-2A>C single nucleotide variant not provided [RCV001879023] Chr1:74336009 [GRCh38]
Chr1:74801693 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1331A>G (p.Asp444Gly) single nucleotide variant not provided [RCV001977374] Chr1:74369031 [GRCh38]
Chr1:74834715 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1371T>A (p.His457Gln) single nucleotide variant not provided [RCV002015591] Chr1:74369071 [GRCh38]
Chr1:74834755 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2182-7del deletion not provided [RCV001992398] Chr1:74492089 [GRCh38]
Chr1:74957773 [GRCh37]
Chr1:1p31.1		 likely benign|uncertain significance
NM_015978.3(TNNI3K):c.487C>T (p.Gln163Ter) single nucleotide variant not provided [RCV001879104] Chr1:74331492 [GRCh38]
Chr1:74797176 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1322-3del deletion not provided [RCV001932561] Chr1:74369019 [GRCh38]
Chr1:74834703 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2080A>G (p.Ile694Val) single nucleotide variant not provided [RCV001931413] Chr1:74463509 [GRCh38]
Chr1:74929193 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.316C>G (p.His106Asp) single nucleotide variant not provided [RCV001918075] Chr1:74250752 [GRCh38]
Chr1:74716436 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.800A>G (p.Asn267Ser) single nucleotide variant not provided [RCV001991410] Chr1:74342959 [GRCh38]
Chr1:74808643 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.188G>A (p.Arg63His) single nucleotide variant not provided [RCV001978714] Chr1:74249497 [GRCh38]
Chr1:74715181 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1238G>A (p.Cys413Tyr) single nucleotide variant not provided [RCV001899439] Chr1:74367316 [GRCh38]
Chr1:74833000 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1984G>A (p.Glu662Lys) single nucleotide variant not provided [RCV002047312] Chr1:74439595 [GRCh38]
Chr1:74905279 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.955A>T (p.Ile319Phe) single nucleotide variant not provided [RCV001879388] Chr1:74353288 [GRCh38]
Chr1:74818972 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1465A>G (p.Ile489Val) single nucleotide variant not provided [RCV001930245] Chr1:74369257 [GRCh38]
Chr1:74834941 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1802A>T (p.His601Leu) single nucleotide variant not provided [RCV002010899] Chr1:74436109 [GRCh38]
Chr1:74901793 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.541C>G (p.Gln181Glu) single nucleotide variant not provided [RCV001991607] Chr1:74331546 [GRCh38]
Chr1:74797230 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2389G>A (p.Glu797Lys) single nucleotide variant not provided [RCV001919650] Chr1:74540271 [GRCh38]
Chr1:75005955 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2150T>C (p.Met717Thr) single nucleotide variant not provided [RCV001972285] Chr1:74489217 [GRCh38]
Chr1:74954901 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2227TCT[3] (p.Ser746del) microsatellite not provided [RCV002013992] Chr1:74492140..74492142 [GRCh38]
Chr1:74957824..74957826 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1309A>G (p.Ser437Gly) single nucleotide variant not provided [RCV001977189] Chr1:74367952 [GRCh38]
Chr1:74833636 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1316C>A (p.Thr439Lys) single nucleotide variant not provided [RCV001995387] Chr1:74367959 [GRCh38]
Chr1:74833643 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74797114)_(74836096_?)del deletion not provided [RCV002050242] Chr1:74797114..74836096 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1378C>T (p.Leu460Phe) single nucleotide variant not provided [RCV002030377] Chr1:74369078 [GRCh38]
Chr1:74834762 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.389T>C (p.Val130Ala) single nucleotide variant not provided [RCV002014863] Chr1:74271653 [GRCh38]
Chr1:74737337 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1471C>T (p.Arg491Cys) single nucleotide variant Atrial conduction disease [RCV003348733]|Inborn genetic diseases [RCV002642021]|not provided [RCV001992045] Chr1:74369263 [GRCh38]
Chr1:74834947 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74797114)_(74808883_?)dup duplication not provided [RCV001918971] Chr1:74797114..74808883 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1679T>G (p.Leu560Trp) single nucleotide variant not provided [RCV002031929] Chr1:74370299 [GRCh38]
Chr1:74835983 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2130C>T (p.Pro710=) single nucleotide variant not provided [RCV001993338] Chr1:74489197 [GRCh38]
Chr1:74954881 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2297G>C (p.Arg766Pro) single nucleotide variant Atrial conduction disease [RCV003348559]|Inborn genetic diseases [RCV002552741]|not provided [RCV001900408] Chr1:74492212 [GRCh38]
Chr1:74957896 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_015978.3(TNNI3K):c.1624A>G (p.Ile542Val) single nucleotide variant not provided [RCV001997568] Chr1:74369542 [GRCh38]
Chr1:74835226 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2171G>C (p.Cys724Ser) single nucleotide variant not provided [RCV001884376] Chr1:74489238 [GRCh38]
Chr1:74954922 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1441C>T (p.Arg481Ter) single nucleotide variant not provided [RCV001870539] Chr1:74369233 [GRCh38]
Chr1:74834917 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.335A>T (p.Asp112Val) single nucleotide variant not provided [RCV001880304] Chr1:74271599 [GRCh38]
Chr1:74737283 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.233del (p.Gly78fs) deletion not provided [RCV002017151] Chr1:74249541 [GRCh38]
Chr1:74715225 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1501T>A (p.Ser501Thr) single nucleotide variant not provided [RCV001997106] Chr1:74369419 [GRCh38]
Chr1:74835103 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1082A>G (p.Asp361Gly) single nucleotide variant not provided [RCV001931354] Chr1:74354034 [GRCh38]
Chr1:74819718 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.878C>G (p.Ser293Ter) single nucleotide variant not provided [RCV001920666] Chr1:74343125 [GRCh38]
Chr1:74808809 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.682+3A>T single nucleotide variant not provided [RCV002031006] Chr1:74336152 [GRCh38]
Chr1:74801836 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1411T>C (p.Ser471Pro) single nucleotide variant not provided [RCV001956843] Chr1:74369111 [GRCh38]
Chr1:74834795 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.361C>T (p.Leu121Phe) single nucleotide variant not provided [RCV002033039] Chr1:74271625 [GRCh38]
Chr1:74737309 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1522C>T (p.Arg508Ter) single nucleotide variant not provided [RCV002015457] Chr1:74369440 [GRCh38]
Chr1:74835124 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1028-2A>G single nucleotide variant not provided [RCV001978852] Chr1:74353978 [GRCh38]
Chr1:74819662 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.550C>T (p.Arg184Cys) single nucleotide variant not provided [RCV001996572] Chr1:74336017 [GRCh38]
Chr1:74801701 [GRCh37]
Chr1:1p31.1		 likely benign|uncertain significance
NM_015978.3(TNNI3K):c.2352-9A>G single nucleotide variant TNNI3K-related disorder [RCV004744184]|not provided [RCV001959257] Chr1:74540225 [GRCh38]
Chr1:75005909 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.777G>T (p.Leu259Phe) single nucleotide variant not provided [RCV001973174] Chr1:74342936 [GRCh38]
Chr1:74808620 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.544-9A>G single nucleotide variant not provided [RCV001932792] Chr1:74336002 [GRCh38]
Chr1:74801686 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1097T>C (p.Met366Thr) single nucleotide variant Atrial conduction disease [RCV003348606]|Inborn genetic diseases [RCV002557606]|not provided [RCV001918195] Chr1:74354049 [GRCh38]
Chr1:74819733 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1478G>A (p.Arg493Gln) single nucleotide variant Inborn genetic diseases [RCV004042552]|not provided [RCV001897057] Chr1:74369396 [GRCh38]
Chr1:74835080 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1807G>A (p.Val603Met) single nucleotide variant not provided [RCV002033310] Chr1:74436114 [GRCh38]
Chr1:74901798 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.248A>G (p.His83Arg) single nucleotide variant not provided [RCV001907217] Chr1:74250684 [GRCh38]
Chr1:74716368 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1631G>A (p.Gly544Glu) single nucleotide variant not provided [RCV001869961] Chr1:74369549 [GRCh38]
Chr1:74835233 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2012-2A>G single nucleotide variant not provided [RCV002014907] Chr1:74463439 [GRCh38]
Chr1:74929123 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1442G>A (p.Arg481Gln) single nucleotide variant not provided [RCV001972152] Chr1:74369234 [GRCh38]
Chr1:74834918 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1492T>G (p.Cys498Gly) single nucleotide variant not provided [RCV001973520] Chr1:74369410 [GRCh38]
Chr1:74835094 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1450A>T (p.Asn484Tyr) single nucleotide variant not provided [RCV002030291] Chr1:74369242 [GRCh38]
Chr1:74834926 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1060C>T (p.Arg354Cys) single nucleotide variant not provided [RCV001998598] Chr1:74354012 [GRCh38]
Chr1:74819696 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1264+1G>T single nucleotide variant not provided [RCV002019736] Chr1:74367343 [GRCh38]
Chr1:74833027 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1178-2A>C single nucleotide variant not provided [RCV001897376] Chr1:74367254 [GRCh38]
Chr1:74832938 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2432G>T (p.Gly811Val) single nucleotide variant not provided [RCV001878339] Chr1:74543906 [GRCh38]
Chr1:75009590 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1414G>A (p.Gly472Ser) single nucleotide variant not provided [RCV001933340] Chr1:74369114 [GRCh38]
Chr1:74834798 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.431C>T (p.Ala144Val) single nucleotide variant not provided [RCV001994420] Chr1:74271695 [GRCh38]
Chr1:74737379 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.680A>T (p.Asp227Val) single nucleotide variant Atrial conduction disease [RCV002243473]|not provided [RCV001870183] Chr1:74336147 [GRCh38]
Chr1:74801831 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74701136)_(74819833_?)dup duplication not provided [RCV001902546] Chr1:74701136..74819833 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.250A>G (p.Ile84Val) single nucleotide variant not provided [RCV001958354] Chr1:74250686 [GRCh38]
Chr1:74716370 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.436C>A (p.His146Asn) single nucleotide variant not provided [RCV001884893] Chr1:74271700 [GRCh38]
Chr1:74737384 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2476C>T (p.Arg826Ter) single nucleotide variant not provided [RCV001878515] Chr1:74543950 [GRCh38]
Chr1:75009634 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.993A>G (p.Ile331Met) single nucleotide variant not provided [RCV001875689] Chr1:74353326 [GRCh38]
Chr1:74819010 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.175A>G (p.Asn59Asp) single nucleotide variant Atrial conduction disease [RCV003348763]|Inborn genetic diseases [RCV002548797]|not provided [RCV002029272] Chr1:74249484 [GRCh38]
Chr1:74715168 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74701136)_(74836096_?)dup duplication not provided [RCV001885599] Chr1:74701136..74836096 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1481C>T (p.Ala494Val) single nucleotide variant not provided [RCV001899626] Chr1:74369399 [GRCh38]
Chr1:74835083 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.325G>A (p.Val109Ile) single nucleotide variant Inborn genetic diseases [RCV004043862]|not provided [RCV002012128] Chr1:74250761 [GRCh38]
Chr1:74716445 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1606G>A (p.Ala536Thr) single nucleotide variant not provided [RCV002046701] Chr1:74369524 [GRCh38]
Chr1:74835208 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2351G>T (p.Ser784Ile) single nucleotide variant not provided [RCV001973680] Chr1:74492266 [GRCh38]
Chr1:74957950 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2038C>A (p.His680Asn) single nucleotide variant not provided [RCV002017115] Chr1:74463467 [GRCh38]
Chr1:74929151 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1893G>C (p.Met631Ile) single nucleotide variant not provided [RCV002036087] Chr1:74439504 [GRCh38]
Chr1:74905188 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.731G>A (p.Arg244Gln) single nucleotide variant not provided [RCV002018266] Chr1:74342890 [GRCh38]
Chr1:74808574 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2420T>C (p.Ile807Thr) single nucleotide variant not provided [RCV001924078] Chr1:74540302 [GRCh38]
Chr1:75005986 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.944A>G (p.Tyr315Cys) single nucleotide variant not provided [RCV001960340] Chr1:74353277 [GRCh38]
Chr1:74818961 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.156T>A (p.Asp52Glu) single nucleotide variant not provided [RCV001998821] Chr1:74249465 [GRCh38]
Chr1:74715149 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1498A>G (p.Lys500Glu) single nucleotide variant not provided [RCV002018665] Chr1:74369416 [GRCh38]
Chr1:74835100 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.287G>A (p.Arg96Gln) single nucleotide variant not provided [RCV001938776] Chr1:74250723 [GRCh38]
Chr1:74716407 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2269C>T (p.Arg757Trp) single nucleotide variant Atrial conduction disease [RCV003348705]|Inborn genetic diseases [RCV003170310]|not provided [RCV001998295] Chr1:74492184 [GRCh38]
Chr1:74957868 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1477C>T (p.Arg493Ter) single nucleotide variant Meniere disease [RCV004571484]|not provided [RCV001885569] Chr1:74369395 [GRCh38]
Chr1:74835079 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74929105)_(75009666_?)dup duplication not provided [RCV002018438] Chr1:74929105..75009666 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2098C>T (p.Arg700Ter) single nucleotide variant not provided [RCV001940663] Chr1:74463527 [GRCh38]
Chr1:74929211 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.406A>G (p.Thr136Ala) single nucleotide variant not provided [RCV001997465] Chr1:74271670 [GRCh38]
Chr1:74737354 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1433A>G (p.Tyr478Cys) single nucleotide variant Inborn genetic diseases [RCV004046795]|not provided [RCV002018581] Chr1:74369225 [GRCh38]
Chr1:74834909 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2122-3C>G single nucleotide variant not provided [RCV001939789] Chr1:74489186 [GRCh38]
Chr1:74954870 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.186C>A (p.Tyr62Ter) single nucleotide variant not provided [RCV002035825] Chr1:74249495 [GRCh38]
Chr1:74715179 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2160A>C (p.Glu720Asp) single nucleotide variant not provided [RCV001940130] Chr1:74489227 [GRCh38]
Chr1:74954911 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1602G>C (p.Gln534His) single nucleotide variant not provided [RCV001959681] Chr1:74369520 [GRCh38]
Chr1:74835204 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.688G>C (p.Ala230Pro) single nucleotide variant not provided [RCV001960268] Chr1:74342847 [GRCh38]
Chr1:74808531 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.404T>C (p.Leu135Pro) single nucleotide variant not provided [RCV002018977] Chr1:74271668 [GRCh38]
Chr1:74737352 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1799G>C (p.Gly600Ala) single nucleotide variant not provided [RCV001885462] Chr1:74436106 [GRCh38]
Chr1:74901790 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2140G>C (p.Glu714Gln) single nucleotide variant not provided [RCV002019525] Chr1:74489207 [GRCh38]
Chr1:74954891 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1408G>A (p.Gly470Ser) single nucleotide variant not provided [RCV001998591] Chr1:74369108 [GRCh38]
Chr1:74834792 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2161G>C (p.Glu721Gln) single nucleotide variant not provided [RCV001901603] Chr1:74489228 [GRCh38]
Chr1:74954912 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.482A>G (p.Asn161Ser) single nucleotide variant not provided [RCV001919400] Chr1:74331487 [GRCh38]
Chr1:74797171 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1668-10T>G single nucleotide variant not provided [RCV001957805] Chr1:74370278 [GRCh38]
Chr1:74835962 [GRCh37]
Chr1:1p31.1		 likely benign|uncertain significance
NM_015978.3(TNNI3K):c.681T>C (p.Asp227=) single nucleotide variant Atrial conduction disease [RCV002471191]|not provided [RCV001972062] Chr1:74336148 [GRCh38]
Chr1:74801832 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.356C>A (p.Ser119Tyr) single nucleotide variant not provided [RCV001973093] Chr1:74271620 [GRCh38]
Chr1:74737304 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1625T>C (p.Ile542Thr) single nucleotide variant not provided [RCV001875436] Chr1:74369543 [GRCh38]
Chr1:74835227 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74701136)_(74701914_?)dup duplication not provided [RCV001990222] Chr1:74701136..74701914 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2381C>T (p.Ser794Phe) single nucleotide variant not provided [RCV001956866] Chr1:74540263 [GRCh38]
Chr1:75005947 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2297G>A (p.Arg766His) single nucleotide variant Inborn genetic diseases [RCV004968346]|not provided [RCV001866482] Chr1:74492212 [GRCh38]
Chr1:74957896 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1400A>G (p.Glu467Gly) single nucleotide variant not provided [RCV001931701] Chr1:74369100 [GRCh38]
Chr1:74834784 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.901G>T (p.Glu301Ter) single nucleotide variant not provided [RCV001898488] Chr1:74343148 [GRCh38]
Chr1:74808832 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2496_2497delinsAT (p.Asp833Tyr) indel not provided [RCV001977886] Chr1:74543970..74543971 [GRCh38]
Chr1:75009654..75009655 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74832920)_(74836096_?)del deletion not provided [RCV001923027] Chr1:74832920..74836096 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2374G>C (p.Gly792Arg) single nucleotide variant not provided [RCV001930523] Chr1:74540256 [GRCh38]
Chr1:75005940 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1415-1G>A single nucleotide variant not provided [RCV002027385] Chr1:74369206 [GRCh38]
Chr1:74834890 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2419A>G (p.Ile807Val) single nucleotide variant not provided [RCV001883139] Chr1:74540301 [GRCh38]
Chr1:75005985 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2018C>T (p.Ala673Val) single nucleotide variant not provided [RCV001976782] Chr1:74463447 [GRCh38]
Chr1:74929131 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74701136)_(74929254_?)dup duplication not provided [RCV001923029] Chr1:74701136..74929254 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.580A>G (p.Asn194Asp) single nucleotide variant not provided [RCV002012810] Chr1:74336047 [GRCh38]
Chr1:74801731 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.832T>G (p.Cys278Gly) single nucleotide variant not provided [RCV002028538] Chr1:74343079 [GRCh38]
Chr1:74808763 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1778A>G (p.Asn593Ser) single nucleotide variant not provided [RCV001978152] Chr1:74436085 [GRCh38]
Chr1:74901769 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.142A>G (p.Ile48Val) single nucleotide variant not provided [RCV001995212] Chr1:74236203 [GRCh38]
Chr1:74701887 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1581T>C (p.Ala527=) single nucleotide variant not provided [RCV002085112] Chr1:74369499 [GRCh38]
Chr1:74835183 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.444+5G>A single nucleotide variant not provided [RCV002109876] Chr1:74271713 [GRCh38]
Chr1:74737397 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.334-16A>T single nucleotide variant not provided [RCV002090082] Chr1:74271582 [GRCh38]
Chr1:74737266 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.544-6C>T single nucleotide variant not provided [RCV002144950] Chr1:74336005 [GRCh38]
Chr1:74801689 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1177+18G>A single nucleotide variant not provided [RCV002125725] Chr1:74354147 [GRCh38]
Chr1:74819831 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1773-8T>C single nucleotide variant not provided [RCV002190469] Chr1:74436072 [GRCh38]
Chr1:74901756 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.525G>A (p.Ala175=) single nucleotide variant not provided [RCV002073625] Chr1:74331530 [GRCh38]
Chr1:74797214 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.682+12T>C single nucleotide variant not provided [RCV002087437] Chr1:74336161 [GRCh38]
Chr1:74801845 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.445-10T>C single nucleotide variant TNNI3K-related disorder [RCV003933364]|not provided [RCV002087914] Chr1:74331440 [GRCh38]
Chr1:74797124 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_015978.3(TNNI3K):c.827+11T>C single nucleotide variant not provided [RCV002206186] Chr1:74342997 [GRCh38]
Chr1:74808681 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1472+21dup duplication not provided [RCV002127416] Chr1:74369279..74369280 [GRCh38]
Chr1:74834963..74834964 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1996G>A (p.Ala666Thr) single nucleotide variant TNNI3K-related disorder [RCV003958634]|not provided [RCV002110965] Chr1:74439607 [GRCh38]
Chr1:74905291 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1584C>T (p.Cys528=) single nucleotide variant not provided [RCV002126072] Chr1:74369502 [GRCh38]
Chr1:74835186 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.201G>A (p.Gly67=) single nucleotide variant not provided [RCV002167348] Chr1:74249510 [GRCh38]
Chr1:74715194 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.933-4del deletion not provided [RCV002092139] Chr1:74353253 [GRCh38]
Chr1:74818937 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1407T>C (p.Ile469=) single nucleotide variant not provided [RCV002191721] Chr1:74369107 [GRCh38]
Chr1:74834791 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1472+8A>G single nucleotide variant not provided [RCV002148739] Chr1:74369272 [GRCh38]
Chr1:74834956 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1287A>G (p.Pro429=) single nucleotide variant not provided [RCV002107014] Chr1:74367930 [GRCh38]
Chr1:74833614 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.543+14T>C single nucleotide variant not provided [RCV002149288] Chr1:74331562 [GRCh38]
Chr1:74797246 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1278G>A (p.Val426=) single nucleotide variant not provided [RCV002145381] Chr1:74367921 [GRCh38]
Chr1:74833605 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1632G>A (p.Gly544=) single nucleotide variant not provided [RCV002146920] Chr1:74369550 [GRCh38]
Chr1:74835234 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1879-6G>A single nucleotide variant not provided [RCV002190608] Chr1:74439484 [GRCh38]
Chr1:74905168 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.683-20T>C single nucleotide variant not provided [RCV002166562] Chr1:74342822 [GRCh38]
Chr1:74808506 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.41-15G>C single nucleotide variant not provided [RCV002166818] Chr1:74236087 [GRCh38]
Chr1:74701771 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2181+20A>C single nucleotide variant not provided [RCV002104634] Chr1:74489268 [GRCh38]
Chr1:74954952 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1472+20A>C single nucleotide variant not provided [RCV002169413] Chr1:74369284 [GRCh38]
Chr1:74834968 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.149+9G>A single nucleotide variant not provided [RCV002189880] Chr1:74236219 [GRCh38]
Chr1:74701903 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.699T>C (p.Asn233=) single nucleotide variant not provided [RCV002165780] Chr1:74342858 [GRCh38]
Chr1:74808542 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.932+17G>A single nucleotide variant not provided [RCV002125432] Chr1:74343196 [GRCh38]
Chr1:74808880 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2019G>A (p.Ala673=) single nucleotide variant not provided [RCV002109746] Chr1:74463448 [GRCh38]
Chr1:74929132 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.827+12G>A single nucleotide variant not provided [RCV002108717] Chr1:74342998 [GRCh38]
Chr1:74808682 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2196A>G (p.Ala732=) single nucleotide variant not provided [RCV002187863] Chr1:74492111 [GRCh38]
Chr1:74957795 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2431+6T>C single nucleotide variant TNNI3K-related disorder [RCV003913560]|not provided [RCV002187519] Chr1:74540319 [GRCh38]
Chr1:75006003 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.874A>G (p.Ile292Val) single nucleotide variant TNNI3K-related disorder [RCV003923641]|not provided [RCV002115903] Chr1:74343121 [GRCh38]
Chr1:74808805 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_015978.3(TNNI3K):c.1667+10T>A single nucleotide variant not provided [RCV002081128] Chr1:74369595 [GRCh38]
Chr1:74835279 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.934G>A (p.Ala312Thr) single nucleotide variant not provided [RCV002076677] Chr1:74353267 [GRCh38]
Chr1:74818951 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1322-12T>C single nucleotide variant not provided [RCV002114563] Chr1:74369010 [GRCh38]
Chr1:74834694 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.960C>G (p.Asp320Glu) single nucleotide variant not provided [RCV002195806] Chr1:74353293 [GRCh38]
Chr1:74818977 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1667+19G>A single nucleotide variant not provided [RCV002194944] Chr1:74369604 [GRCh38]
Chr1:74835288 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2124A>G (p.Gly708=) single nucleotide variant not provided [RCV002171791] Chr1:74489191 [GRCh38]
Chr1:74954875 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2157A>G (p.Leu719=) single nucleotide variant not provided [RCV002204952] Chr1:74489224 [GRCh38]
Chr1:74954908 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1605T>C (p.Phe535=) single nucleotide variant not provided [RCV002078768] Chr1:74369523 [GRCh38]
Chr1:74835207 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.933-17A>T single nucleotide variant not provided [RCV002092591] Chr1:74353249 [GRCh38]
Chr1:74818933 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.41-19A>G single nucleotide variant not provided [RCV002111365] Chr1:74236083 [GRCh38]
Chr1:74701767 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2361A>G (p.Gln787=) single nucleotide variant not provided [RCV002213587] Chr1:74540243 [GRCh38]
Chr1:75005927 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1068T>C (p.Val356=) single nucleotide variant not provided [RCV002174400] Chr1:74354020 [GRCh38]
Chr1:74819704 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1322-5T>C single nucleotide variant not provided [RCV002132882] Chr1:74369017 [GRCh38]
Chr1:74834701 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1110T>C (p.Ala370=) single nucleotide variant not provided [RCV002212126] Chr1:74354062 [GRCh38]
Chr1:74819746 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1028-12T>C single nucleotide variant not provided [RCV002116738] Chr1:74353968 [GRCh38]
Chr1:74819652 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1983C>T (p.Gly661=) single nucleotide variant not provided [RCV002117076] Chr1:74439594 [GRCh38]
Chr1:74905278 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1473-9C>T single nucleotide variant not provided [RCV002097377] Chr1:74369382 [GRCh38]
Chr1:74835066 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.933-4dup duplication not provided [RCV002134753] Chr1:74353252..74353253 [GRCh38]
Chr1:74818936..74818937 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.41-12C>T single nucleotide variant not provided [RCV002170010] Chr1:74236090 [GRCh38]
Chr1:74701774 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1414+20T>C single nucleotide variant not provided [RCV002134271] Chr1:74369134 [GRCh38]
Chr1:74834818 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.933-14G>T single nucleotide variant not provided [RCV002174916] Chr1:74353252 [GRCh38]
Chr1:74818936 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1773-19T>C single nucleotide variant not provided [RCV002094880] Chr1:74436061 [GRCh38]
Chr1:74901745 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.426A>G (p.Thr142=) single nucleotide variant FPGT-TNNI3K-related disorder [RCV003903400]|not provided [RCV002115868] Chr1:74271690 [GRCh38]
Chr1:74737374 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_015978.3(TNNI3K):c.2122-17C>T single nucleotide variant not provided [RCV002134889] Chr1:74489172 [GRCh38]
Chr1:74954856 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.192T>C (p.Thr64=) single nucleotide variant not provided [RCV002173530] Chr1:74249501 [GRCh38]
Chr1:74715185 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1772G>C (p.Ser591Thr) single nucleotide variant Atrial conduction disease [RCV003348788]|TNNI3K-related disorder [RCV003950893]|not provided [RCV002174737] Chr1:74370392 [GRCh38]
Chr1:74836076 [GRCh37]
Chr1:1p31.1		 likely benign|conflicting interpretations of pathogenicity
NM_015978.3(TNNI3K):c.1322-13T>A single nucleotide variant not provided [RCV002115124] Chr1:74369009 [GRCh38]
Chr1:74834693 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.591T>C (p.Gly197=) single nucleotide variant not provided [RCV002194779] Chr1:74336058 [GRCh38]
Chr1:74801742 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_015978.3(TNNI3K):c.345A>G (p.Glu115=) single nucleotide variant not provided [RCV002173628] Chr1:74271609 [GRCh38]
Chr1:74737293 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1170T>C (p.Tyr390=) single nucleotide variant not provided [RCV002147834] Chr1:74354122 [GRCh38]
Chr1:74819806 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1023C>T (p.His341=) single nucleotide variant not provided [RCV002093930] Chr1:74353356 [GRCh38]
Chr1:74819040 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1028-12T>G single nucleotide variant not provided [RCV002208225] Chr1:74353968 [GRCh38]
Chr1:74819652 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.279C>T (p.Arg93=) single nucleotide variant not provided [RCV002195527] Chr1:74250715 [GRCh38]
Chr1:74716399 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.828-19A>C single nucleotide variant not provided [RCV002170631] Chr1:74343056 [GRCh38]
Chr1:74808740 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1992A>G (p.Pro664=) single nucleotide variant not provided [RCV002171953] Chr1:74439603 [GRCh38]
Chr1:74905287 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2182-4T>G single nucleotide variant not provided [RCV002145040] Chr1:74492093 [GRCh38]
Chr1:74957777 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1668-15A>G single nucleotide variant not provided [RCV002213449] Chr1:74370273 [GRCh38]
Chr1:74835957 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.609C>G (p.Pro203=) single nucleotide variant not provided [RCV002094932] Chr1:74336076 [GRCh38]
Chr1:74801760 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.933-3dup duplication not provided [RCV002080289] Chr1:74353262..74353263 [GRCh38]
Chr1:74818946..74818947 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.141T>C (p.Asn47=) single nucleotide variant not provided [RCV002113119] Chr1:74236202 [GRCh38]
Chr1:74701886 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.2018C>A (p.Ala673Glu) single nucleotide variant TNNI3K-related disorder [RCV003951042]|not provided [RCV002116814] Chr1:74463447 [GRCh38]
Chr1:74929131 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.193G>T (p.Glu65Ter) single nucleotide variant Atrial conduction disease [RCV002500027]|not provided [RCV002116071] Chr1:74249502 [GRCh38]
Chr1:74715186 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_015978.3(TNNI3K):c.1879-11T>C single nucleotide variant not provided [RCV002212441] Chr1:74439479 [GRCh38]
Chr1:74905163 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.333+9C>T single nucleotide variant not provided [RCV002095842] Chr1:74250778 [GRCh38]
Chr1:74716462 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2351G>A (p.Ser784Asn) single nucleotide variant not provided [RCV002127367] Chr1:74492266 [GRCh38]
Chr1:74957950 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.398G>T (p.Gly133Val) single nucleotide variant not provided [RCV002114414] Chr1:74271662 [GRCh38]
Chr1:74737346 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1738C>T (p.Leu580=) single nucleotide variant not provided [RCV002177104] Chr1:74370358 [GRCh38]
Chr1:74836042 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1550A>G (p.Asn517Ser) single nucleotide variant Inborn genetic diseases [RCV003015297]|not provided [RCV002103673] Chr1:74369468 [GRCh38]
Chr1:74835152 [GRCh37]
Chr1:1p31.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015978.3(TNNI3K):c.763C>T (p.Leu255=) single nucleotide variant not provided [RCV002201807] Chr1:74342922 [GRCh38]
Chr1:74808606 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2190T>A (p.Ser730=) single nucleotide variant not provided [RCV002159763] Chr1:74492105 [GRCh38]
Chr1:74957789 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2409A>G (p.Gln803=) single nucleotide variant not provided [RCV002118083] Chr1:74540291 [GRCh38]
Chr1:75005975 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.2337T>C (p.Ala779=) single nucleotide variant not provided [RCV002200177] Chr1:74492252 [GRCh38]
Chr1:74957936 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1414+9AAAT[5] microsatellite not provided [RCV002137921] Chr1:74369122..74369123 [GRCh38]
Chr1:74834806..74834807 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2122-11dup duplication not provided [RCV002141805] Chr1:74489172..74489173 [GRCh38]
Chr1:74954856..74954857 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1177+17C>T single nucleotide variant not provided [RCV002200652] Chr1:74354146 [GRCh38]
Chr1:74819830 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.236-18T>C single nucleotide variant not provided [RCV002181982] Chr1:74250654 [GRCh38]
Chr1:74716338 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.293C>A (p.Thr98Lys) single nucleotide variant not provided [RCV002178051] Chr1:74250729 [GRCh38]
Chr1:74716413 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1322-18G>A single nucleotide variant not provided [RCV002138237] Chr1:74369004 [GRCh38]
Chr1:74834688 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.519T>C (p.Ile173=) single nucleotide variant not provided [RCV002178305] Chr1:74331524 [GRCh38]
Chr1:74797208 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2352-9A>C single nucleotide variant not provided [RCV002155358] Chr1:74540225 [GRCh38]
Chr1:75005909 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.459G>A (p.Leu153=) single nucleotide variant not provided [RCV002120898] Chr1:74331464 [GRCh38]
Chr1:74797148 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1878+8G>A single nucleotide variant not provided [RCV002202952] Chr1:74436534 [GRCh38]
Chr1:74902218 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1878+7T>C single nucleotide variant not provided [RCV002217871] Chr1:74436533 [GRCh38]
Chr1:74902217 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1911G>A (p.Thr637=) single nucleotide variant TNNI3K-related disorder [RCV003913528]|not provided [RCV002176955] Chr1:74439522 [GRCh38]
Chr1:74905206 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1879-17T>A single nucleotide variant not provided [RCV002101880] Chr1:74439473 [GRCh38]
Chr1:74905157 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.235+20T>C single nucleotide variant not provided [RCV002218850] Chr1:74249564 [GRCh38]
Chr1:74715248 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1265-14A>T single nucleotide variant not provided [RCV002141517] Chr1:74367894 [GRCh38]
Chr1:74833578 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2449A>G (p.Met817Val) single nucleotide variant FPGT-TNNI3K-related disorder [RCV003951308]|not provided [RCV002181710] Chr1:74543923 [GRCh38]
Chr1:75009607 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_015978.3(TNNI3K):c.1879-18A>T single nucleotide variant not provided [RCV002204422] Chr1:74439472 [GRCh38]
Chr1:74905156 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1825+19G>A single nucleotide variant not provided [RCV002164048] Chr1:74436151 [GRCh38]
Chr1:74901835 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2121+7526_2121+7529dup duplication Atrial conduction disease [RCV002227732] Chr1:74471075..74471076 [GRCh38]
Chr1:74936759..74936760 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1667+15T>G single nucleotide variant not provided [RCV002176143] Chr1:74369600 [GRCh38]
Chr1:74835284 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.397G>A (p.Gly133Ser) single nucleotide variant Inborn genetic diseases [RCV004047046]|not provided [RCV002164064] Chr1:74271661 [GRCh38]
Chr1:74737345 [GRCh37]
Chr1:1p31.1		 likely benign|uncertain significance
NM_015978.3(TNNI3K):c.2067C>T (p.Ser689=) single nucleotide variant not provided [RCV002136498] Chr1:74463496 [GRCh38]
Chr1:74929180 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2377C>T (p.Leu793=) single nucleotide variant not provided [RCV002176331] Chr1:74540259 [GRCh38]
Chr1:75005943 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1095T>C (p.Asp365=) single nucleotide variant not provided [RCV002198909] Chr1:74354047 [GRCh38]
Chr1:74819731 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2448C>T (p.Pro816=) single nucleotide variant not provided [RCV002162793] Chr1:74543922 [GRCh38]
Chr1:75009606 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.933-12T>C single nucleotide variant not provided [RCV002140488] Chr1:74353254 [GRCh38]
Chr1:74818938 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1773-18T>C single nucleotide variant not provided [RCV002161179] Chr1:74436062 [GRCh38]
Chr1:74901746 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1027+14G>A single nucleotide variant not provided [RCV002201229] Chr1:74353374 [GRCh38]
Chr1:74819058 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1178-14A>G single nucleotide variant not provided [RCV002160739] Chr1:74367242 [GRCh38]
Chr1:74832926 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.334-13T>C single nucleotide variant not provided [RCV002122642] Chr1:74271585 [GRCh38]
Chr1:74737269 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.683-18C>G single nucleotide variant not provided [RCV002144191] Chr1:74342824 [GRCh38]
Chr1:74808508 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2011+7C>T single nucleotide variant not provided [RCV002144201] Chr1:74439629 [GRCh38]
Chr1:74905313 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2287T>C (p.Leu763=) single nucleotide variant not provided [RCV002220489] Chr1:74492202 [GRCh38]
Chr1:74957886 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.945T>C (p.Tyr315=) single nucleotide variant not provided [RCV002179509] Chr1:74353278 [GRCh38]
Chr1:74818962 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.149+21_149+23del microsatellite not provided [RCV002217473] Chr1:74236228..74236230 [GRCh38]
Chr1:74701912..74701914 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.21A>G (p.Arg7=) single nucleotide variant not provided [RCV002202485] Chr1:74235472 [GRCh38]
Chr1:74701156 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.654C>A (p.Leu218=) single nucleotide variant not provided [RCV002183558] Chr1:74336121 [GRCh38]
Chr1:74801805 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2352-18G>A single nucleotide variant not provided [RCV002140422] Chr1:74540216 [GRCh38]
Chr1:75005900 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2476C>G (p.Arg826Gly) single nucleotide variant TNNI3K-related disorder [RCV003418392]|not provided [RCV002142989] Chr1:74543950 [GRCh38]
Chr1:75009634 [GRCh37]
Chr1:1p31.1		 likely benign|uncertain significance
NM_015978.3(TNNI3K):c.445-20A>G single nucleotide variant not provided [RCV002201619] Chr1:74331430 [GRCh38]
Chr1:74797114 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.1472+15G>T single nucleotide variant not provided [RCV002216649] Chr1:74369279 [GRCh38]
Chr1:74834963 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.444+11C>T single nucleotide variant not provided [RCV002136057] Chr1:74271719 [GRCh38]
Chr1:74737403 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2181+17C>T single nucleotide variant not provided [RCV002184075] Chr1:74489265 [GRCh38]
Chr1:74954949 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.933-13T>G single nucleotide variant not provided [RCV002138693] Chr1:74353253 [GRCh38]
Chr1:74818937 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2128C>A (p.Pro710Thr) single nucleotide variant Inborn genetic diseases [RCV003289423]|not provided [RCV002180202] Chr1:74489195 [GRCh38]
Chr1:74954879 [GRCh37]
Chr1:1p31.1		 likely benign|uncertain significance
NM_015978.3(TNNI3K):c.2276A>G (p.His759Arg) single nucleotide variant not provided [RCV003118098] Chr1:74492191 [GRCh38]
Chr1:74957875 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2432-5T>G single nucleotide variant not provided [RCV003115515] Chr1:74543901 [GRCh38]
Chr1:75009585 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.311C>G (p.Ala104Gly) single nucleotide variant not provided [RCV003112975] Chr1:74250747 [GRCh38]
Chr1:74716431 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_75005898)_(75006017_?)del deletion not provided [RCV003119686] Chr1:75005898..75006017 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74701136)_(74701914_?)del deletion not provided [RCV003119687] Chr1:74701136..74701914 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74808506)_(74808883_?)del deletion not provided [RCV003119689] Chr1:74808506..74808883 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74701136)_(74954952_?)dup duplication not provided [RCV003119690] Chr1:74701136..74954952 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74701136)_(74737412_?)dup duplication not provided [RCV003119691] Chr1:74701136..74737412 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74701136)_(74797252_?)dup duplication not provided [RCV003119692] Chr1:74701136..74797252 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74737262)_(75009666_?)dup duplication not provided [RCV003119693] Chr1:74737262..75009666 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74808506)_(74808883_?)dup duplication not provided [RCV003119694] Chr1:74808506..74808883 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.40+1G>C single nucleotide variant not provided [RCV004776806] Chr1:74235492 [GRCh38]
Chr1:74701176 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.333+1G>A single nucleotide variant not provided [RCV003234443] Chr1:74250770 [GRCh38]
Chr1:74716454 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001382280.1(LRRC53):c.1026T>C (p.Ala342=) single nucleotide variant not provided [RCV002262238] Chr1:74475689 [GRCh38]
Chr1:74941373 [GRCh37]
Chr1:1p31.1		 likely benign
Single allele duplication not specified [RCV002286371] Chr1:66885559..77949895 [GRCh38]
Chr1:1p31.3-31.1		 uncertain significance
NM_015978.3(TNNI3K):c.935C>T (p.Ala312Val) single nucleotide variant not provided [RCV002297407] Chr1:74353268 [GRCh38]
Chr1:74818952 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1772+141G>A single nucleotide variant not provided [RCV002285657] Chr1:74370533 [GRCh38]
Chr1:74836217 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1696A>G (p.Ile566Val) single nucleotide variant not provided [RCV002297560] Chr1:74370316 [GRCh38]
Chr1:74836000 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1223A>G (p.Gln408Arg) single nucleotide variant not provided [RCV002727246] Chr1:74367301 [GRCh38]
Chr1:74832985 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:74501101-74706387)x3 copy number gain not provided [RCV002472768] Chr1:74501101..74706387 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.538G>T (p.Glu180Ter) single nucleotide variant Atrial conduction disease [RCV002465038]|not provided [RCV002573562] Chr1:74331543 [GRCh38]
Chr1:74797227 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
GRCh37/hg19 1p31.1(chr1:74796513-74918340)x1 copy number loss not provided [RCV002474869] Chr1:74796513..74918340 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.907A>C (p.Ile303Leu) single nucleotide variant not provided [RCV002303115] Chr1:74343154 [GRCh38]
Chr1:74808838 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.914G>A (p.Ser305Asn) single nucleotide variant not provided [RCV002303881] Chr1:74343161 [GRCh38]
Chr1:74808845 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1798G>A (p.Gly600Arg) single nucleotide variant not provided [RCV002300090] Chr1:74436105 [GRCh38]
Chr1:74901789 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2375G>A (p.Gly792Asp) single nucleotide variant not provided [RCV002299797] Chr1:74540257 [GRCh38]
Chr1:75005941 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1202T>C (p.Leu401Pro) single nucleotide variant not provided [RCV002298971] Chr1:74367280 [GRCh38]
Chr1:74832964 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2503A>G (p.Ser835Gly) single nucleotide variant not provided [RCV002299601] Chr1:74543977 [GRCh38]
Chr1:75009661 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.172G>C (p.Val58Leu) single nucleotide variant not provided [RCV002301867] Chr1:74249481 [GRCh38]
Chr1:74715165 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1395C>G (p.Phe465Leu) single nucleotide variant not provided [RCV002294805] Chr1:74369095 [GRCh38]
Chr1:74834779 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2377C>G (p.Leu793Val) single nucleotide variant not provided [RCV002294966] Chr1:74540259 [GRCh38]
Chr1:75005943 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.171A>T (p.Lys57Asn) single nucleotide variant Inborn genetic diseases [RCV002772969] Chr1:74249480 [GRCh38]
Chr1:74715164 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1772+19A>G single nucleotide variant not provided [RCV002614634] Chr1:74370411 [GRCh38]
Chr1:74836095 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.505A>T (p.Thr169Ser) single nucleotide variant not provided [RCV003011869] Chr1:74331510 [GRCh38]
Chr1:74797194 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001112808.3(FPGT-TNNI3K):c.435A>T (p.Glu145Asp) single nucleotide variant not specified [RCV004117283] Chr1:74236193 [GRCh38]
Chr1:74701877 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1816G>T (p.Asp606Tyr) single nucleotide variant not provided [RCV002726510] Chr1:74436123 [GRCh38]
Chr1:74901807 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2301C>T (p.Phe767=) single nucleotide variant not provided [RCV002970641] Chr1:74492216 [GRCh38]
Chr1:74957900 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.581A>T (p.Asn194Ile) single nucleotide variant not provided [RCV002993873] Chr1:74336048 [GRCh38]
Chr1:74801732 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1028-7A>G single nucleotide variant not provided [RCV003013381] Chr1:74353973 [GRCh38]
Chr1:74819657 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1995C>G (p.Phe665Leu) single nucleotide variant not provided [RCV003033609] Chr1:74439606 [GRCh38]
Chr1:74905290 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.827+15G>A single nucleotide variant not provided [RCV002991651] Chr1:74343001 [GRCh38]
Chr1:74808685 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.975T>G (p.Leu325=) single nucleotide variant not provided [RCV002775171] Chr1:74353308 [GRCh38]
Chr1:74818992 [GRCh37]
Chr1:1p31.1		 likely benign
NM_001112808.3(FPGT-TNNI3K):c.1361T>C (p.Ile454Thr) single nucleotide variant not specified [RCV004085454] Chr1:74354010 [GRCh38]
Chr1:74819694 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2389G>C (p.Glu797Gln) single nucleotide variant not provided [RCV002815329] Chr1:74540271 [GRCh38]
Chr1:75005955 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.127A>G (p.Thr43Ala) single nucleotide variant not provided [RCV002727348] Chr1:74236188 [GRCh38]
Chr1:74701872 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2432-19A>C single nucleotide variant not provided [RCV002838896] Chr1:74543887 [GRCh38]
Chr1:75009571 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.205T>A (p.Ser69Thr) single nucleotide variant not provided [RCV002685970] Chr1:74249514 [GRCh38]
Chr1:74715198 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2122-1G>A single nucleotide variant not provided [RCV002618344] Chr1:74489188 [GRCh38]
Chr1:74954872 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2306del (p.Leu769fs) deletion not provided [RCV002862970] Chr1:74492220 [GRCh38]
Chr1:74957904 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.435C>A (p.Gly145=) single nucleotide variant not provided [RCV003017197] Chr1:74271699 [GRCh38]
Chr1:74737383 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1154G>T (p.Cys385Phe) single nucleotide variant not provided [RCV002818987] Chr1:74354106 [GRCh38]
Chr1:74819790 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2268C>A (p.Gly756=) single nucleotide variant not provided [RCV002617900] Chr1:74492183 [GRCh38]
Chr1:74957867 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1805C>T (p.Ala602Val) single nucleotide variant not provided [RCV003016869] Chr1:74436112 [GRCh38]
Chr1:74901796 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.182A>G (p.Asn61Ser) single nucleotide variant not provided [RCV002903830] Chr1:74249491 [GRCh38]
Chr1:74715175 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.166_167insATTCA (p.Ser56fs) insertion not provided [RCV003013176] Chr1:74249471..74249472 [GRCh38]
Chr1:74715155..74715156 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001112808.3(FPGT-TNNI3K):c.439A>G (p.Arg147Gly) single nucleotide variant not specified [RCV004090837] Chr1:74236197 [GRCh38]
Chr1:74701881 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1317A>C (p.Thr439=) single nucleotide variant not provided [RCV002861386] Chr1:74367960 [GRCh38]
Chr1:74833644 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1878+18T>C single nucleotide variant not provided [RCV002727238] Chr1:74436544 [GRCh38]
Chr1:74902228 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.330C>G (p.Tyr110Ter) single nucleotide variant not provided [RCV002863281] Chr1:74250766 [GRCh38]
Chr1:74716450 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2136T>C (p.Phe712=) single nucleotide variant not provided [RCV002685670] Chr1:74489203 [GRCh38]
Chr1:74954887 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.883del (p.Thr295fs) deletion not provided [RCV002994284] Chr1:74343129 [GRCh38]
Chr1:74808813 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2012-20_2015dup duplication not provided [RCV003014906] Chr1:74463420..74463421 [GRCh38]
Chr1:74929104..74929105 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1595C>A (p.Pro532His) single nucleotide variant not provided [RCV002726831] Chr1:74369513 [GRCh38]
Chr1:74835197 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.289C>G (p.Leu97Val) single nucleotide variant not provided [RCV003013610] Chr1:74250725 [GRCh38]
Chr1:74716409 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.316C>T (p.His106Tyr) single nucleotide variant not provided [RCV002815594] Chr1:74250752 [GRCh38]
Chr1:74716436 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.638_639insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTCGATCTCCTGTCCTATTGATCCAACCTCCTCGGCCTACCAAAGTGCTGGGATTTCAGGCGTTAGCCTCCTCGCCCGGCCAGGATTCTT (p.Leu213fs) insertion not provided [RCV003032715] Chr1:74336096..74336097 [GRCh38]
Chr1:74801780..74801781 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1567C>G (p.Gln523Glu) single nucleotide variant not provided [RCV002861752] Chr1:74369485 [GRCh38]
Chr1:74835169 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1318A>C (p.Lys440Gln) single nucleotide variant Atrial conduction disease [RCV003348998]|Inborn genetic diseases [RCV003051309]|not provided [RCV003076528] Chr1:74367961 [GRCh38]
Chr1:74833645 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1990C>A (p.Pro664Thr) single nucleotide variant not provided [RCV002727053] Chr1:74439601 [GRCh38]
Chr1:74905285 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.660G>A (p.Met220Ile) single nucleotide variant not provided [RCV002903784] Chr1:74336127 [GRCh38]
Chr1:74801811 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2178T>A (p.Ile726=) single nucleotide variant not provided [RCV002731005] Chr1:74489245 [GRCh38]
Chr1:74954929 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1021C>T (p.His341Tyr) single nucleotide variant not provided [RCV002819807]|not specified [RCV004064896] Chr1:74353354 [GRCh38]
Chr1:74819038 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1913A>G (p.Gln638Arg) single nucleotide variant not provided [RCV002880986] Chr1:74439524 [GRCh38]
Chr1:74905208 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.85G>A (p.Glu29Lys) single nucleotide variant not provided [RCV003016494] Chr1:74236146 [GRCh38]
Chr1:74701830 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1169A>T (p.Tyr390Phe) single nucleotide variant not provided [RCV002730572] Chr1:74354121 [GRCh38]
Chr1:74819805 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1231T>A (p.Leu411Met) single nucleotide variant not provided [RCV002755557] Chr1:74367309 [GRCh38]
Chr1:74832993 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1264+6C>G single nucleotide variant not provided [RCV002975165] Chr1:74367348 [GRCh38]
Chr1:74833032 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.236-2A>G single nucleotide variant not provided [RCV002775808] Chr1:74250670 [GRCh38]
Chr1:74716354 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.290T>G (p.Leu97Arg) single nucleotide variant Atrial conduction disease [RCV003348871]|Inborn genetic diseases [RCV002634434]|not provided [RCV002617724] Chr1:74250726 [GRCh38]
Chr1:74716410 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.941C>T (p.Thr314Ile) single nucleotide variant not provided [RCV002622423] Chr1:74353274 [GRCh38]
Chr1:74818958 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1028-14C>A single nucleotide variant not provided [RCV002593087] Chr1:74353966 [GRCh38]
Chr1:74819650 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.708T>G (p.His236Gln) single nucleotide variant not provided [RCV002658755] Chr1:74342867 [GRCh38]
Chr1:74808551 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.543G>A (p.Gln181=) single nucleotide variant not provided [RCV002871339] Chr1:74331548 [GRCh38]
Chr1:74797232 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2258G>C (p.Gly753Ala) single nucleotide variant Atrial conduction disease [RCV003348980]|not provided [RCV003053522]|not specified [RCV004068694] Chr1:74492173 [GRCh38]
Chr1:74957857 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2352-2A>G single nucleotide variant not provided [RCV002953058] Chr1:74540232 [GRCh38]
Chr1:75005916 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1354T>G (p.Leu452Val) single nucleotide variant not provided [RCV002949479] Chr1:74369054 [GRCh38]
Chr1:74834738 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2181+3A>G single nucleotide variant not provided [RCV002622635] Chr1:74489251 [GRCh38]
Chr1:74954935 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.41-6dup duplication not provided [RCV002740319] Chr1:74236093..74236094 [GRCh38]
Chr1:74701777..74701778 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1316C>T (p.Thr439Ile) single nucleotide variant not provided [RCV002825566] Chr1:74367959 [GRCh38]
Chr1:74833643 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1599C>T (p.Ser533=) single nucleotide variant not provided [RCV002740431] Chr1:74369517 [GRCh38]
Chr1:74835201 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2177T>C (p.Ile726Thr) single nucleotide variant Atrial conduction disease [RCV003348891]|Inborn genetic diseases [RCV003308236]|not provided [RCV002706156] Chr1:74489244 [GRCh38]
Chr1:74954928 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1028-14C>T single nucleotide variant not provided [RCV002740401] Chr1:74353966 [GRCh38]
Chr1:74819650 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2423A>T (p.Asp808Val) single nucleotide variant not provided [RCV003055353] Chr1:74540305 [GRCh38]
Chr1:75005989 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2507G>A (p.Ter836=) single nucleotide variant not provided [RCV003018542] Chr1:74543981 [GRCh38]
Chr1:75009665 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.318T>A (p.His106Gln) single nucleotide variant not provided [RCV003019109] Chr1:74250754 [GRCh38]
Chr1:74716438 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1053T>G (p.Gly351=) single nucleotide variant not provided [RCV002824269] Chr1:74354005 [GRCh38]
Chr1:74819689 [GRCh37]
Chr1:1p31.1		 likely benign
NM_001112808.3(FPGT-TNNI3K):c.764T>C (p.Leu255Ser) single nucleotide variant not specified [RCV004203197] Chr1:74331466 [GRCh38]
Chr1:74797150 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1993T>G (p.Phe665Val) single nucleotide variant not provided [RCV002824826] Chr1:74439604 [GRCh38]
Chr1:74905288 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1526A>G (p.Glu509Gly) single nucleotide variant Inborn genetic diseases [RCV002781972] Chr1:74369444 [GRCh38]
Chr1:74835128 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1224A>G (p.Gln408=) single nucleotide variant not provided [RCV002705276] Chr1:74367302 [GRCh38]
Chr1:74832986 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1504G>A (p.Asp502Asn) single nucleotide variant not provided [RCV003053477] Chr1:74369422 [GRCh38]
Chr1:74835106 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1061G>A (p.Arg354His) single nucleotide variant Inborn genetic diseases [RCV004963311]|not provided [RCV002975891] Chr1:74354013 [GRCh38]
Chr1:74819697 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.254G>A (p.Arg85Gln) single nucleotide variant not provided [RCV002910085] Chr1:74250690 [GRCh38]
Chr1:74716374 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1274A>G (p.Tyr425Cys) single nucleotide variant not provided [RCV002866692] Chr1:74367917 [GRCh38]
Chr1:74833601 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.467del (p.His156fs) deletion not provided [RCV003036791] Chr1:74331472 [GRCh38]
Chr1:74797156 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2255G>T (p.Arg752Leu) single nucleotide variant not provided [RCV003054074] Chr1:74492170 [GRCh38]
Chr1:74957854 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1360T>C (p.Ser454Pro) single nucleotide variant not provided [RCV002735548] Chr1:74369060 [GRCh38]
Chr1:74834744 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2483G>T (p.Ser828Ile) single nucleotide variant not provided [RCV003018438] Chr1:74543957 [GRCh38]
Chr1:75009641 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.531T>A (p.Tyr177Ter) single nucleotide variant not provided [RCV003037693] Chr1:74331536 [GRCh38]
Chr1:74797220 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2120A>T (p.Glu707Val) single nucleotide variant not provided [RCV003053991] Chr1:74463549 [GRCh38]
Chr1:74929233 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.933-16T>C single nucleotide variant not provided [RCV002927333] Chr1:74353250 [GRCh38]
Chr1:74818934 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2029A>G (p.Met677Val) single nucleotide variant not provided [RCV003036922] Chr1:74463458 [GRCh38]
Chr1:74929142 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1415-16_1415-12del deletion not provided [RCV002592882] Chr1:74369187..74369191 [GRCh38]
Chr1:74834871..74834875 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.607C>A (p.Pro203Thr) single nucleotide variant not provided [RCV002590708] Chr1:74336074 [GRCh38]
Chr1:74801758 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.149+18A>C single nucleotide variant not provided [RCV002705566] Chr1:74236228 [GRCh38]
Chr1:74701912 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2113T>C (p.Cys705Arg) single nucleotide variant not provided [RCV002639746] Chr1:74463542 [GRCh38]
Chr1:74929226 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.583G>A (p.Val195Ile) single nucleotide variant not provided [RCV003053470] Chr1:74336050 [GRCh38]
Chr1:74801734 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1077A>G (p.Leu359=) single nucleotide variant not provided [RCV002638828] Chr1:74354029 [GRCh38]
Chr1:74819713 [GRCh37]
Chr1:1p31.1		 likely benign
NM_001112808.3(FPGT-TNNI3K):c.1859C>T (p.Pro620Leu) single nucleotide variant not specified [RCV004150510] Chr1:74369474 [GRCh38]
Chr1:74835158 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2220C>G (p.Leu740=) single nucleotide variant not provided [RCV002866576] Chr1:74492135 [GRCh38]
Chr1:74957819 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1260A>G (p.Gly420=) single nucleotide variant not provided [RCV002797214] Chr1:74367338 [GRCh38]
Chr1:74833022 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.933-1G>A single nucleotide variant not provided [RCV002781091] Chr1:74353265 [GRCh38]
Chr1:74818949 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1978A>G (p.Thr660Ala) single nucleotide variant not provided [RCV002948612] Chr1:74439589 [GRCh38]
Chr1:74905273 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2168T>C (p.Leu723Pro) single nucleotide variant not provided [RCV003038763] Chr1:74489235 [GRCh38]
Chr1:74954919 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1952A>G (p.Tyr651Cys) single nucleotide variant not provided [RCV002795693] Chr1:74439563 [GRCh38]
Chr1:74905247 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.300T>C (p.Asn100=) single nucleotide variant not provided [RCV002979620] Chr1:74250736 [GRCh38]
Chr1:74716420 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1622A>G (p.Tyr541Cys) single nucleotide variant not provided [RCV002927456] Chr1:74369540 [GRCh38]
Chr1:74835224 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1930A>G (p.Ile644Val) single nucleotide variant not provided [RCV002658544] Chr1:74439541 [GRCh38]
Chr1:74905225 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1487C>T (p.Thr496Ile) single nucleotide variant not provided [RCV002796949] Chr1:74369405 [GRCh38]
Chr1:74835089 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2270G>A (p.Arg757Gln) single nucleotide variant not provided [RCV002662569] Chr1:74492185 [GRCh38]
Chr1:74957869 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.863A>C (p.Glu288Ala) single nucleotide variant not provided [RCV003043628] Chr1:74343110 [GRCh38]
Chr1:74808794 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1916G>T (p.Cys639Phe) single nucleotide variant not provided [RCV002667552] Chr1:74439527 [GRCh38]
Chr1:74905211 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1879-5T>A single nucleotide variant not provided [RCV002829480] Chr1:74439485 [GRCh38]
Chr1:74905169 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2458A>G (p.Met820Val) single nucleotide variant not provided [RCV002627156] Chr1:74543932 [GRCh38]
Chr1:75009616 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1473-8A>G single nucleotide variant not provided [RCV002626300] Chr1:74369383 [GRCh38]
Chr1:74835067 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.997A>G (p.Ile333Val) single nucleotide variant not provided [RCV002741902] Chr1:74353330 [GRCh38]
Chr1:74819014 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2265T>G (p.Pro755=) single nucleotide variant not provided [RCV003057271] Chr1:74492180 [GRCh38]
Chr1:74957864 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.467A>G (p.His156Arg) single nucleotide variant not provided [RCV002597379] Chr1:74331472 [GRCh38]
Chr1:74797156 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.333+16T>A single nucleotide variant not provided [RCV003043616] Chr1:74250785 [GRCh38]
Chr1:74716469 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.930T>C (p.His310=) single nucleotide variant not provided [RCV002645796] Chr1:74343177 [GRCh38]
Chr1:74808861 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2000A>C (p.His667Pro) single nucleotide variant not provided [RCV003043254] Chr1:74439611 [GRCh38]
Chr1:74905295 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1699G>T (p.Ala567Ser) single nucleotide variant not provided [RCV003008166] Chr1:74370319 [GRCh38]
Chr1:74836003 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2099G>C (p.Arg700Pro) single nucleotide variant not provided [RCV002851267] Chr1:74463528 [GRCh38]
Chr1:74929212 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2303A>G (p.Glu768Gly) single nucleotide variant not provided [RCV003043376] Chr1:74492218 [GRCh38]
Chr1:74957902 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1774C>T (p.His592Tyr) single nucleotide variant TNNI3K-related disorder [RCV004725344]|not provided [RCV002666868] Chr1:74436081 [GRCh38]
Chr1:74901765 [GRCh37]
Chr1:1p31.1		 pathogenic|uncertain significance
NM_015978.3(TNNI3K):c.806A>G (p.Tyr269Cys) single nucleotide variant not provided [RCV002829855] Chr1:74342965 [GRCh38]
Chr1:74808649 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.236-9C>T single nucleotide variant not provided [RCV003005175] Chr1:74250663 [GRCh38]
Chr1:74716347 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1999C>T (p.His667Tyr) single nucleotide variant not provided [RCV002626657] Chr1:74439610 [GRCh38]
Chr1:74905294 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1415-6T>G single nucleotide variant not provided [RCV002851987] Chr1:74369201 [GRCh38]
Chr1:74834885 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2380T>C (p.Ser794Pro) single nucleotide variant not provided [RCV002595085] Chr1:74540262 [GRCh38]
Chr1:75005946 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1327_1328delinsTA (p.Ala443Ter) indel not provided [RCV002710832] Chr1:74369027..74369028 [GRCh38]
Chr1:74834711..74834712 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1349C>A (p.Ala450Asp) single nucleotide variant not provided [RCV002711621] Chr1:74369049 [GRCh38]
Chr1:74834733 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1574T>G (p.Val525Gly) single nucleotide variant not provided [RCV002828222] Chr1:74369492 [GRCh38]
Chr1:74835176 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.683-1G>A single nucleotide variant not provided [RCV003039864] Chr1:74342841 [GRCh38]
Chr1:74808525 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1602G>A (p.Gln534=) single nucleotide variant not provided [RCV002593959] Chr1:74369520 [GRCh38]
Chr1:74835204 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2123G>C (p.Gly708Ala) single nucleotide variant not provided [RCV003022917] Chr1:74489190 [GRCh38]
Chr1:74954874 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1856A>G (p.Asp619Gly) single nucleotide variant not provided [RCV003024406] Chr1:74436504 [GRCh38]
Chr1:74902188 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2197T>G (p.Ser733Ala) single nucleotide variant not provided [RCV002663776] Chr1:74492112 [GRCh38]
Chr1:74957796 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2333A>G (p.Tyr778Cys) single nucleotide variant not provided [RCV003041331] Chr1:74492248 [GRCh38]
Chr1:74957932 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.457_464delinsTG (p.Leu153_Gln155delinsTer) indel not provided [RCV002957192] Chr1:74331462..74331469 [GRCh38]
Chr1:74797146..74797153 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1415-6T>C single nucleotide variant not provided [RCV003025255] Chr1:74369201 [GRCh38]
Chr1:74834885 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2340T>A (p.Ala780=) single nucleotide variant not provided [RCV003042547] Chr1:74492255 [GRCh38]
Chr1:74957939 [GRCh37]
Chr1:1p31.1		 likely benign
NM_001112808.3(FPGT-TNNI3K):c.1814A>G (p.Asp605Gly) single nucleotide variant not specified [RCV004074173] Chr1:74369429 [GRCh38]
Chr1:74835113 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.682+9A>G single nucleotide variant not provided [RCV002701422] Chr1:74336158 [GRCh38]
Chr1:74801842 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1787T>C (p.Leu596Pro) single nucleotide variant not provided [RCV002740984] Chr1:74436094 [GRCh38]
Chr1:74901778 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.748A>G (p.Ile250Val) single nucleotide variant not provided [RCV002573875] Chr1:74342907 [GRCh38]
Chr1:74808591 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.106C>T (p.Gln36Ter) single nucleotide variant not provided [RCV002740997] Chr1:74236167 [GRCh38]
Chr1:74701851 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1131T>G (p.Ser377Arg) single nucleotide variant not provided [RCV002711782] Chr1:74354083 [GRCh38]
Chr1:74819767 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1924T>C (p.Tyr642His) single nucleotide variant not provided [RCV002765868] Chr1:74439535 [GRCh38]
Chr1:74905219 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1252C>T (p.Gln418Ter) single nucleotide variant not provided [RCV002626952] Chr1:74367330 [GRCh38]
Chr1:74833014 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.368G>A (p.Ser123Asn) single nucleotide variant Atrial conduction disease [RCV003348893]|Inborn genetic diseases [RCV002710394]|not provided [RCV002710395] Chr1:74271632 [GRCh38]
Chr1:74737316 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1848G>A (p.Leu616=) single nucleotide variant not provided [RCV002711328] Chr1:74436496 [GRCh38]
Chr1:74902180 [GRCh37]
Chr1:1p31.1		 likely benign|uncertain significance
NM_015978.3(TNNI3K):c.682+5G>A single nucleotide variant not provided [RCV002643814] Chr1:74336154 [GRCh38]
Chr1:74801838 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1886G>A (p.Arg629His) single nucleotide variant Inborn genetic diseases [RCV004963373]|not provided [RCV003058962] Chr1:74439497 [GRCh38]
Chr1:74905181 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.797T>C (p.Val266Ala) single nucleotide variant not provided [RCV002575554] Chr1:74342956 [GRCh38]
Chr1:74808640 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.224G>T (p.Cys75Phe) single nucleotide variant not provided [RCV002594963] Chr1:74249533 [GRCh38]
Chr1:74715217 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.450_463dup (p.Gln155fs) duplication not provided [RCV002871738] Chr1:74331451..74331452 [GRCh38]
Chr1:74797135..74797136 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.534A>T (p.Gly178=) single nucleotide variant not provided [RCV002851364] Chr1:74331539 [GRCh38]
Chr1:74797223 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1364A>C (p.His455Pro) single nucleotide variant not provided [RCV002872829] Chr1:74369064 [GRCh38]
Chr1:74834748 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1322-8C>T single nucleotide variant not provided [RCV002765628] Chr1:74369014 [GRCh38]
Chr1:74834698 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2352-1G>A single nucleotide variant not provided [RCV003042947] Chr1:74540233 [GRCh38]
Chr1:75005917 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.235+1G>A single nucleotide variant not provided [RCV003022399] Chr1:74249545 [GRCh38]
Chr1:74715229 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1530G>A (p.Val510=) single nucleotide variant not provided [RCV003042642] Chr1:74369448 [GRCh38]
Chr1:74835132 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.150-9T>A single nucleotide variant not provided [RCV002593800] Chr1:74249450 [GRCh38]
Chr1:74715134 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2T>A (p.Met1Lys) single nucleotide variant not provided [RCV002745264] Chr1:74235453 [GRCh38]
Chr1:74701137 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.22C>T (p.Pro8Ser) single nucleotide variant not provided [RCV002594413] Chr1:74235473 [GRCh38]
Chr1:74701157 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.456G>T (p.Val152=) single nucleotide variant not provided [RCV002917368] Chr1:74331461 [GRCh38]
Chr1:74797145 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1825+9C>T single nucleotide variant not provided [RCV002790098] Chr1:74436141 [GRCh38]
Chr1:74901825 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1560C>A (p.Cys520Ter) single nucleotide variant not provided [RCV002650586] Chr1:74369478 [GRCh38]
Chr1:74835162 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.469G>T (p.Gly157Ter) single nucleotide variant not provided [RCV002676542] Chr1:74331474 [GRCh38]
Chr1:74797158 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1265-20T>C single nucleotide variant not provided [RCV003028173] Chr1:74367888 [GRCh38]
Chr1:74833572 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.846A>C (p.Lys282Asn) single nucleotide variant not provided [RCV003047377] Chr1:74343093 [GRCh38]
Chr1:74808777 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1677T>A (p.Asp559Glu) single nucleotide variant not provided [RCV002650676] Chr1:74370297 [GRCh38]
Chr1:74835981 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.530A>G (p.Tyr177Cys) single nucleotide variant Atrial conduction disease [RCV003348903]|Inborn genetic diseases [RCV003250576]|not provided [RCV002717052] Chr1:74331535 [GRCh38]
Chr1:74797219 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.933-11T>A single nucleotide variant not provided [RCV003064173] Chr1:74353255 [GRCh38]
Chr1:74818939 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2122-11del deletion not provided [RCV003031979] Chr1:74489173 [GRCh38]
Chr1:74954857 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.683-18C>A single nucleotide variant not provided [RCV002676341] Chr1:74342824 [GRCh38]
Chr1:74808508 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.748A>T (p.Ile250Leu) single nucleotide variant not provided [RCV002941897] Chr1:74342907 [GRCh38]
Chr1:74808591 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.11:g.74463442_74463462del deletion not provided [RCV002938762] Chr1:74463440..74463460 [GRCh38]
Chr1:74929124..74929144 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.396C>T (p.Tyr132=) single nucleotide variant not provided [RCV002676391] Chr1:74271660 [GRCh38]
Chr1:74737344 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1927A>G (p.Thr643Ala) single nucleotide variant not provided [RCV003031184] Chr1:74439538 [GRCh38]
Chr1:74905222 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.827+15G>C single nucleotide variant not provided [RCV002576468] Chr1:74343001 [GRCh38]
Chr1:74808685 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2309A>T (p.Glu770Val) single nucleotide variant Atrial conduction disease [RCV003341527]|Inborn genetic diseases [RCV002651517]|not provided [RCV002651516] Chr1:74492224 [GRCh38]
Chr1:74957908 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2060G>A (p.Gly687Asp) single nucleotide variant not provided [RCV003048971] Chr1:74463489 [GRCh38]
Chr1:74929173 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1135G>A (p.Glu379Lys) single nucleotide variant not provided [RCV002602443] Chr1:74354087 [GRCh38]
Chr1:74819771 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1133G>A (p.Gly378Asp) single nucleotide variant not provided [RCV002966940] Chr1:74354085 [GRCh38]
Chr1:74819769 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2454C>T (p.Ser818=) single nucleotide variant not provided [RCV003031195] Chr1:74543928 [GRCh38]
Chr1:75009612 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1259G>A (p.Gly420Glu) single nucleotide variant not provided [RCV002746023] Chr1:74367337 [GRCh38]
Chr1:74833021 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.149+17C>A single nucleotide variant not provided [RCV002716727] Chr1:74236227 [GRCh38]
Chr1:74701911 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.478G>A (p.Val160Ile) single nucleotide variant not provided [RCV002715126] Chr1:74331483 [GRCh38]
Chr1:74797167 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.444+20C>T single nucleotide variant not provided [RCV002833158] Chr1:74271728 [GRCh38]
Chr1:74737412 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.10_16del (p.Tyr4fs) deletion not provided [RCV002833159] Chr1:74235457..74235463 [GRCh38]
Chr1:74701141..74701147 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.391G>A (p.Gly131Arg) single nucleotide variant not provided [RCV003046849] Chr1:74271655 [GRCh38]
Chr1:74737339 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2065T>A (p.Ser689Thr) single nucleotide variant not provided [RCV003046537] Chr1:74463494 [GRCh38]
Chr1:74929178 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1894G>A (p.Ala632Thr) single nucleotide variant Inborn genetic diseases [RCV004963319]|not provided [RCV002963337] Chr1:74439505 [GRCh38]
Chr1:74905189 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1747C>T (p.Pro583Ser) single nucleotide variant Atrial conduction disease [RCV003348942]|Inborn genetic diseases [RCV003167954]|not provided [RCV002922334] Chr1:74370367 [GRCh38]
Chr1:74836051 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001112808.3(FPGT-TNNI3K):c.554T>G (p.Ile185Ser) single nucleotide variant not specified [RCV004158484] Chr1:74250687 [GRCh38]
Chr1:74716371 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2431+16C>A single nucleotide variant not provided [RCV003029279] Chr1:74540329 [GRCh38]
Chr1:75006013 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1177+10T>A single nucleotide variant not provided [RCV002895424] Chr1:74354139 [GRCh38]
Chr1:74819823 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.235+3G>A single nucleotide variant not provided [RCV002627414] Chr1:74249547 [GRCh38]
Chr1:74715231 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1415-13T>C single nucleotide variant not provided [RCV003026786] Chr1:74369194 [GRCh38]
Chr1:74834878 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1878+1G>T single nucleotide variant not provided [RCV002627475] Chr1:74436527 [GRCh38]
Chr1:74902211 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.525G>T (p.Ala175=) single nucleotide variant not provided [RCV002933834] Chr1:74331530 [GRCh38]
Chr1:74797214 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.333+20A>G single nucleotide variant not provided [RCV002646869] Chr1:74250789 [GRCh38]
Chr1:74716473 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.392G>T (p.Gly131Val) single nucleotide variant TNNI3K-related disorder [RCV003404017]|not provided [RCV003045703] Chr1:74271656 [GRCh38]
Chr1:74737340 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2296C>A (p.Arg766Ser) single nucleotide variant Inborn genetic diseases [RCV002748233] Chr1:74492211 [GRCh38]
Chr1:74957895 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.150-3C>T single nucleotide variant not provided [RCV002962719] Chr1:74249456 [GRCh38]
Chr1:74715140 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1706A>G (p.Asp569Gly) single nucleotide variant not provided [RCV002645989] Chr1:74370326 [GRCh38]
Chr1:74836010 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1772+11C>T single nucleotide variant not provided [RCV002899772] Chr1:74370403 [GRCh38]
Chr1:74836087 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1052G>T (p.Gly351Val) single nucleotide variant not provided [RCV002632098] Chr1:74354004 [GRCh38]
Chr1:74819688 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.333+8A>T single nucleotide variant not provided [RCV002671774] Chr1:74250777 [GRCh38]
Chr1:74716461 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1140A>G (p.Lys380=) single nucleotide variant not provided [RCV002630378] Chr1:74354092 [GRCh38]
Chr1:74819776 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.982C>G (p.Gln328Glu) single nucleotide variant not provided [RCV002720054] Chr1:74353315 [GRCh38]
Chr1:74818999 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1792G>A (p.Glu598Lys) single nucleotide variant not provided [RCV002581282] Chr1:74436099 [GRCh38]
Chr1:74901783 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.334-3C>G single nucleotide variant not provided [RCV002715207] Chr1:74271595 [GRCh38]
Chr1:74737279 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1442G>T (p.Arg481Leu) single nucleotide variant not provided [RCV002578908] Chr1:74369234 [GRCh38]
Chr1:74834918 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.326_333del (p.Val109fs) deletion not provided [RCV002600332] Chr1:74250760..74250767 [GRCh38]
Chr1:74716444..74716451 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1370A>G (p.His457Arg) single nucleotide variant not provided [RCV002963376] Chr1:74369070 [GRCh38]
Chr1:74834754 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1729C>G (p.Leu577Val) single nucleotide variant Inborn genetic diseases [RCV003340511]|not provided [RCV002577434] Chr1:74370349 [GRCh38]
Chr1:74836033 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2431+8G>A single nucleotide variant not provided [RCV003027850] Chr1:74540321 [GRCh38]
Chr1:75006005 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.426A>C (p.Thr142=) single nucleotide variant not provided [RCV002649547] Chr1:74271690 [GRCh38]
Chr1:74737374 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1668-11T>G single nucleotide variant not provided [RCV002646000] Chr1:74370277 [GRCh38]
Chr1:74835961 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.152C>T (p.Ser51Phe) single nucleotide variant not provided [RCV003011540] Chr1:74249461 [GRCh38]
Chr1:74715145 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2011+5dup duplication not provided [RCV002833413] Chr1:74439626..74439627 [GRCh38]
Chr1:74905310..74905311 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.378T>C (p.Asp126=) single nucleotide variant not provided [RCV002811700] Chr1:74271642 [GRCh38]
Chr1:74737326 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.235+12A>C single nucleotide variant not provided [RCV002899724] Chr1:74249556 [GRCh38]
Chr1:74715240 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1037C>G (p.Ser346Cys) single nucleotide variant not provided [RCV002598445] Chr1:74353989 [GRCh38]
Chr1:74819673 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1183del (p.Asp395fs) deletion not provided [RCV002810055] Chr1:74367261 [GRCh38]
Chr1:74832945 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1595C>T (p.Pro532Leu) single nucleotide variant Atrial conduction disease [RCV003348855]|Inborn genetic diseases [RCV002580260]|not provided [RCV002580259] Chr1:74369513 [GRCh38]
Chr1:74835197 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.929A>G (p.His310Arg) single nucleotide variant not provided [RCV002676240] Chr1:74343176 [GRCh38]
Chr1:74808860 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1840_1841del (p.Gln614fs) deletion not provided [RCV003027419] Chr1:74436487..74436488 [GRCh38]
Chr1:74902171..74902172 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1165G>C (p.Ala389Pro) single nucleotide variant TNNI3K-related disorder [RCV003409877]|not provided [RCV002577878] Chr1:74354117 [GRCh38]
Chr1:74819801 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2071C>T (p.Pro691Ser) single nucleotide variant not provided [RCV002597430] Chr1:74463500 [GRCh38]
Chr1:74929184 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1848G>T (p.Leu616=) single nucleotide variant not provided [RCV002835314] Chr1:74436496 [GRCh38]
Chr1:74902180 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.28C>A (p.Gln10Lys) single nucleotide variant not provided [RCV002922940] Chr1:74235479 [GRCh38]
Chr1:74701163 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1928C>T (p.Thr643Ile) single nucleotide variant not provided [RCV002717337] Chr1:74439539 [GRCh38]
Chr1:74905223 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.856G>T (p.Ala286Ser) single nucleotide variant not provided [RCV003063345] Chr1:74343103 [GRCh38]
Chr1:74808787 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.731G>T (p.Arg244Leu) single nucleotide variant Atrial conduction disease [RCV003348886]|Primary dilated cardiomyopathy [RCV003327575]|not provided [RCV002653518] Chr1:74342890 [GRCh38]
Chr1:74808574 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.277C>T (p.Arg93Cys) single nucleotide variant not provided [RCV002722025] Chr1:74250713 [GRCh38]
Chr1:74716397 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1825+19G>T single nucleotide variant not provided [RCV002605736] Chr1:74436151 [GRCh38]
Chr1:74901835 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.253C>T (p.Arg85Ter) single nucleotide variant not provided [RCV002582622] Chr1:74250689 [GRCh38]
Chr1:74716373 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2012-7T>A single nucleotide variant not provided [RCV002635543] Chr1:74463434 [GRCh38]
Chr1:74929118 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1389T>G (p.Ile463Met) single nucleotide variant Atrial conduction disease [RCV003349040]|Inborn genetic diseases [RCV003161923]|Meniere disease [RCV004572792]|not provided [RCV002605900] Chr1:74369089 [GRCh38]
Chr1:74834773 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2352-8T>G single nucleotide variant not provided [RCV002654321] Chr1:74540226 [GRCh38]
Chr1:75005910 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1648C>T (p.Leu550Phe) single nucleotide variant not provided [RCV002633219] Chr1:74369566 [GRCh38]
Chr1:74835250 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1179G>T (p.Gly393=) single nucleotide variant not provided [RCV002604268] Chr1:74367257 [GRCh38]
Chr1:74832941 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1493G>A (p.Cys498Tyr) single nucleotide variant not provided [RCV002585651] Chr1:74369411 [GRCh38]
Chr1:74835095 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2351+15A>G single nucleotide variant not provided [RCV002721535] Chr1:74492281 [GRCh38]
Chr1:74957965 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2002C>T (p.Leu668Phe) single nucleotide variant not provided [RCV003071509] Chr1:74439613 [GRCh38]
Chr1:74905297 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2363A>G (p.Tyr788Cys) single nucleotide variant Inborn genetic diseases [RCV004681508]|not provided [RCV002609420] Chr1:74540245 [GRCh38]
Chr1:75005929 [GRCh37]
Chr1:1p31.1		 likely benign|uncertain significance
NM_015978.3(TNNI3K):c.641A>G (p.Asn214Ser) single nucleotide variant not provided [RCV002721716] Chr1:74336108 [GRCh38]
Chr1:74801792 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1667+3A>G single nucleotide variant not provided [RCV002608752] Chr1:74369588 [GRCh38]
Chr1:74835272 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.661G>A (p.Glu221Lys) single nucleotide variant not provided [RCV002610245] Chr1:74336128 [GRCh38]
Chr1:74801812 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2392A>G (p.Met798Val) single nucleotide variant Inborn genetic diseases [RCV004066649]|not provided [RCV002657919] Chr1:74540274 [GRCh38]
Chr1:75005958 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.11:g.74336011del deletion not provided [RCV002635738] Chr1:74336010 [GRCh38]
Chr1:74801694 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2011+6A>G single nucleotide variant not provided [RCV002585414] Chr1:74439628 [GRCh38]
Chr1:74905312 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.42T>A (p.Asp14Glu) single nucleotide variant not provided [RCV002606266] Chr1:74236103 [GRCh38]
Chr1:74701787 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2308G>A (p.Glu770Lys) single nucleotide variant not provided [RCV003049803] Chr1:74492223 [GRCh38]
Chr1:74957907 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.773A>G (p.Asp258Gly) single nucleotide variant not provided [RCV002721696] Chr1:74342932 [GRCh38]
Chr1:74808616 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1397A>G (p.His466Arg) single nucleotide variant not provided [RCV002587418] Chr1:74369097 [GRCh38]
Chr1:74834781 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1575_1577dup (p.Gly526_Ala527insGly) duplication not provided [RCV003051871] Chr1:74369492..74369493 [GRCh38]
Chr1:74835176..74835177 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.899A>T (p.Lys300Met) single nucleotide variant not provided [RCV002610288] Chr1:74343146 [GRCh38]
Chr1:74808830 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.165C>A (p.Phe55Leu) single nucleotide variant not provided [RCV002586226] Chr1:74249474 [GRCh38]
Chr1:74715158 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.236-3A>G single nucleotide variant not provided [RCV003073187] Chr1:74250669 [GRCh38]
Chr1:74716353 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.441A>C (p.Leu147=) single nucleotide variant not provided [RCV002676929] Chr1:74271705 [GRCh38]
Chr1:74737389 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1143T>A (p.Asp381Glu) single nucleotide variant not provided [RCV002607053] Chr1:74354095 [GRCh38]
Chr1:74819779 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1589A>G (p.Asn530Ser) single nucleotide variant not provided [RCV002586401] Chr1:74369507 [GRCh38]
Chr1:74835191 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001112808.3(FPGT-TNNI3K):c.1653T>G (p.Ala551=) single nucleotide variant not specified [RCV004261951] Chr1:74369050 [GRCh38]
Chr1:74834734 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1012A>G (p.Arg338Gly) single nucleotide variant Inborn genetic diseases [RCV003214336] Chr1:74353345 [GRCh38]
Chr1:74819029 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1667+1G>T single nucleotide variant not provided [RCV003228290] Chr1:74369586 [GRCh38]
Chr1:74835270 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001112808.3(FPGT-TNNI3K):c.2392C>A (p.Leu798Met) single nucleotide variant not specified [RCV004331224] Chr1:74463518 [GRCh38]
Chr1:74929202 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2121+7442G>A single nucleotide variant Atrial conduction disease [RCV003336039] Chr1:74470992 [GRCh38]
Chr1:74936676 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001112808.3(FPGT-TNNI3K):c.428T>G (p.Leu143Arg) single nucleotide variant not specified [RCV004342654] Chr1:74236186 [GRCh38]
Chr1:74701870 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2261G>A (p.Gly754Glu) single nucleotide variant Inborn genetic diseases [RCV003359921] Chr1:74492176 [GRCh38]
Chr1:74957860 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.263T>A (p.Met88Lys) single nucleotide variant not provided [RCV003543132] Chr1:74250699 [GRCh38]
Chr1:74716383 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2505C>G (p.Ser835Arg) single nucleotide variant not provided [RCV003873163] Chr1:74543979 [GRCh38]
Chr1:75009663 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1108G>A (p.Ala370Thr) single nucleotide variant not provided [RCV003569417] Chr1:74354060 [GRCh38]
Chr1:74819744 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.635del (p.Phe212fs) deletion not provided [RCV003569766] Chr1:74336101 [GRCh38]
Chr1:74801785 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2044A>T (p.Ile682Phe) single nucleotide variant not provided [RCV003686289] Chr1:74463473 [GRCh38]
Chr1:74929157 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.770G>A (p.Ser257Asn) single nucleotide variant not provided [RCV003569999] Chr1:74342929 [GRCh38]
Chr1:74808613 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1265-12T>A single nucleotide variant not provided [RCV003569981] Chr1:74367896 [GRCh38]
Chr1:74833580 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.235+3_235+6del deletion not provided [RCV003543267] Chr1:74249545..74249548 [GRCh38]
Chr1:74715229..74715232 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1572T>A (p.Phe524Leu) single nucleotide variant not provided [RCV003569056] Chr1:74369490 [GRCh38]
Chr1:74835174 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:74993063-75580191)x3 copy number gain not provided [RCV003484019] Chr1:74993063..75580191 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1310G>T (p.Ser437Ile) single nucleotide variant not provided [RCV003691006] Chr1:74367953 [GRCh38]
Chr1:74833637 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1661A>G (p.Gln554Arg) single nucleotide variant not provided [RCV003406554] Chr1:74369579 [GRCh38]
Chr1:74835263 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2121+6858C>T single nucleotide variant not provided [RCV003406555] Chr1:74470408 [GRCh38]
Chr1:74936092 [GRCh37]
Chr1:1p31.1		 likely benign
NM_001382280.1(LRRC53):c.1441AGA[2] (p.Arg483del) microsatellite not provided [RCV003406556] Chr1:74472173..74472175 [GRCh38]
Chr1:74937857..74937859 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1392G>T (p.Glu464Asp) single nucleotide variant Atrial conduction disease [RCV003391155] Chr1:74369092 [GRCh38]
Chr1:74834776 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1855G>A (p.Asp619Asn) single nucleotide variant not provided [RCV003738969]|not specified [RCV004917880] Chr1:74436503 [GRCh38]
Chr1:74902187 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1631G>T (p.Gly544Val) single nucleotide variant not provided [RCV003572556] Chr1:74369549 [GRCh38]
Chr1:74835233 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1050C>T (p.His350=) single nucleotide variant not provided [RCV003828459] Chr1:74354002 [GRCh38]
Chr1:74819686 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.964del (p.Val322fs) deletion not provided [RCV003829641] Chr1:74353297 [GRCh38]
Chr1:74818981 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.815C>T (p.Thr272Ile) single nucleotide variant not provided [RCV003694455] Chr1:74342974 [GRCh38]
Chr1:74808658 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.149+11_149+19del deletion not provided [RCV003578337] Chr1:74236220..74236228 [GRCh38]
Chr1:74701904..74701912 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1321+19A>G single nucleotide variant not provided [RCV003878156] Chr1:74367983 [GRCh38]
Chr1:74833667 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1667+14G>T single nucleotide variant not provided [RCV003827405] Chr1:74369599 [GRCh38]
Chr1:74835283 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2072C>T (p.Pro691Leu) single nucleotide variant not provided [RCV003829606] Chr1:74463501 [GRCh38]
Chr1:74929185 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.166A>T (p.Ser56Cys) single nucleotide variant not provided [RCV003828642] Chr1:74249475 [GRCh38]
Chr1:74715159 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.192T>G (p.Thr64=) single nucleotide variant not provided [RCV003576478] Chr1:74249501 [GRCh38]
Chr1:74715185 [GRCh37]
Chr1:1p31.1		 benign
NM_015978.3(TNNI3K):c.2305T>C (p.Leu769=) single nucleotide variant not provided [RCV003849320] Chr1:74492220 [GRCh38]
Chr1:74957904 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.995A>C (p.Asn332Thr) single nucleotide variant not provided [RCV003688128] Chr1:74353328 [GRCh38]
Chr1:74819012 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.862G>A (p.Glu288Lys) single nucleotide variant not provided [RCV003573630] Chr1:74343109 [GRCh38]
Chr1:74808793 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1016A>T (p.Asp339Val) single nucleotide variant not provided [RCV003691712] Chr1:74353349 [GRCh38]
Chr1:74819033 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.790C>T (p.His264Tyr) single nucleotide variant not provided [RCV003688803] Chr1:74342949 [GRCh38]
Chr1:74808633 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.358C>T (p.Leu120=) single nucleotide variant not provided [RCV003576460] Chr1:74271622 [GRCh38]
Chr1:74737306 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1243G>T (p.Glu415Ter) single nucleotide variant not provided [RCV003715852] Chr1:74367321 [GRCh38]
Chr1:74833005 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1666A>T (p.Arg556Trp) single nucleotide variant not provided [RCV003659999] Chr1:74369584 [GRCh38]
Chr1:74835268 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.933-19T>C single nucleotide variant not provided [RCV003576634] Chr1:74353247 [GRCh38]
Chr1:74818931 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.201_204dup (p.Ser69fs) duplication not provided [RCV003713357] Chr1:74249508..74249509 [GRCh38]
Chr1:74715192..74715193 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.682+19_682+29delinsTGATATATA indel not provided [RCV003688458] Chr1:74336168..74336178 [GRCh38]
Chr1:74801852..74801862 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1321+16G>A single nucleotide variant not provided [RCV003826350] Chr1:74367980 [GRCh38]
Chr1:74833664 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1453A>G (p.Lys485Glu) single nucleotide variant not provided [RCV003573399] Chr1:74369245 [GRCh38]
Chr1:74834929 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.27C>A (p.Thr9=) single nucleotide variant not provided [RCV003575485] Chr1:74235478 [GRCh38]
Chr1:74701162 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2351+13A>G single nucleotide variant not provided [RCV003881596] Chr1:74492279 [GRCh38]
Chr1:74957963 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1864A>G (p.Thr622Ala) single nucleotide variant not provided [RCV003572792] Chr1:74436512 [GRCh38]
Chr1:74902196 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.333+3A>G single nucleotide variant not provided [RCV003715603] Chr1:74250772 [GRCh38]
Chr1:74716456 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2351+8G>T single nucleotide variant not provided [RCV003573189] Chr1:74492274 [GRCh38]
Chr1:74957958 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.828-20G>A single nucleotide variant not provided [RCV003830507] Chr1:74343055 [GRCh38]
Chr1:74808739 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2116C>A (p.Pro706Thr) single nucleotide variant not provided [RCV003578993] Chr1:74463545 [GRCh38]
Chr1:74929229 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2247G>T (p.Leu749=) single nucleotide variant not provided [RCV003578992] Chr1:74492162 [GRCh38]
Chr1:74957846 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2011+1G>A single nucleotide variant not provided [RCV003877963] Chr1:74439623 [GRCh38]
Chr1:74905307 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1809G>A (p.Val603=) single nucleotide variant not provided [RCV003547391] Chr1:74436116 [GRCh38]
Chr1:74901800 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1520G>C (p.Cys507Ser) single nucleotide variant not provided [RCV003878001] Chr1:74369438 [GRCh38]
Chr1:74835122 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.38_40+3del deletion not provided [RCV003878783] Chr1:74235486..74235491 [GRCh38]
Chr1:74701170..74701175 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.543+6T>A single nucleotide variant not provided [RCV003716063] Chr1:74331554 [GRCh38]
Chr1:74797238 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.249T>C (p.His83=) single nucleotide variant not provided [RCV003574103] Chr1:74250685 [GRCh38]
Chr1:74716369 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.89G>T (p.Arg30Ile) single nucleotide variant not provided [RCV003716026] Chr1:74236150 [GRCh38]
Chr1:74701834 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1563A>C (p.Val521=) single nucleotide variant not provided [RCV003578331] Chr1:74369481 [GRCh38]
Chr1:74835165 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.81A>G (p.Thr27=) single nucleotide variant not provided [RCV003544726] Chr1:74236142 [GRCh38]
Chr1:74701826 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1221A>G (p.Pro407=) single nucleotide variant not provided [RCV003694868] Chr1:74367299 [GRCh38]
Chr1:74832983 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1144G>A (p.Glu382Lys) single nucleotide variant not provided [RCV003826263] Chr1:74354096 [GRCh38]
Chr1:74819780 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1178-17T>C single nucleotide variant not provided [RCV003713681] Chr1:74367239 [GRCh38]
Chr1:74832923 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1630G>T (p.Gly544Trp) single nucleotide variant not provided [RCV003695051] Chr1:74369548 [GRCh38]
Chr1:74835232 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1797T>C (p.Asp599=) single nucleotide variant not provided [RCV003877104] Chr1:74436104 [GRCh38]
Chr1:74901788 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1759_1760del (p.His586_Arg587insTer) deletion not provided [RCV003661439] Chr1:74370379..74370380 [GRCh38]
Chr1:74836063..74836064 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1218A>G (p.Arg406=) single nucleotide variant not provided [RCV003882477] Chr1:74367296 [GRCh38]
Chr1:74832980 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1893G>A (p.Met631Ile) single nucleotide variant not provided [RCV003663027] Chr1:74439504 [GRCh38]
Chr1:74905188 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1751T>C (p.Ile584Thr) single nucleotide variant not provided [RCV003692001] Chr1:74370371 [GRCh38]
Chr1:74836055 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1028-17A>G single nucleotide variant not provided [RCV003662295] Chr1:74353963 [GRCh38]
Chr1:74819647 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1687A>G (p.Lys563Glu) single nucleotide variant not provided [RCV003689133] Chr1:74370307 [GRCh38]
Chr1:74835991 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.630A>G (p.Lys210=) single nucleotide variant not provided [RCV003691285] Chr1:74336097 [GRCh38]
Chr1:74801781 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1707T>C (p.Asp569=) single nucleotide variant not provided [RCV003686630] Chr1:74370327 [GRCh38]
Chr1:74836011 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1217G>T (p.Arg406Ile) single nucleotide variant Inborn genetic diseases [RCV004368980]|not provided [RCV003575295] Chr1:74367295 [GRCh38]
Chr1:74832979 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2351+15A>C single nucleotide variant not provided [RCV003659624] Chr1:74492281 [GRCh38]
Chr1:74957965 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.312C>A (p.Ala104=) single nucleotide variant not provided [RCV003851346] Chr1:74250748 [GRCh38]
Chr1:74716432 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2351+3G>A single nucleotide variant not provided [RCV003699758] Chr1:74492269 [GRCh38]
Chr1:74957953 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2296_2298del (p.Arg766del) deletion not provided [RCV003850498] Chr1:74492209..74492211 [GRCh38]
Chr1:74957893..74957895 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1027+1G>C single nucleotide variant not provided [RCV003852855] Chr1:74353361 [GRCh38]
Chr1:74819045 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.894_897del (p.Thr299fs) deletion not provided [RCV003832183] Chr1:74343139..74343142 [GRCh38]
Chr1:74808823..74808826 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2012-18T>C single nucleotide variant not provided [RCV003850871] Chr1:74463423 [GRCh38]
Chr1:74929107 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1074C>A (p.Phe358Leu) single nucleotide variant not provided [RCV003850078] Chr1:74354026 [GRCh38]
Chr1:74819710 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1200C>T (p.Leu400=) single nucleotide variant not provided [RCV003580258] Chr1:74367278 [GRCh38]
Chr1:74832962 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.878C>T (p.Ser293Leu) single nucleotide variant not provided [RCV003813783] Chr1:74343125 [GRCh38]
Chr1:74808809 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.682+11A>G single nucleotide variant not provided [RCV003851039] Chr1:74336160 [GRCh38]
Chr1:74801844 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2398del (p.Arg800fs) deletion not provided [RCV003549706] Chr1:74540277 [GRCh38]
Chr1:75005961 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.827+17A>T single nucleotide variant not provided [RCV003557885] Chr1:74343003 [GRCh38]
Chr1:74808687 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2431+13A>G single nucleotide variant not provided [RCV003832368] Chr1:74540326 [GRCh38]
Chr1:75006010 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1492T>C (p.Cys498Arg) single nucleotide variant not provided [RCV003674185] Chr1:74369410 [GRCh38]
Chr1:74835094 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.845A>G (p.Lys282Arg) single nucleotide variant not provided [RCV003725623] Chr1:74343092 [GRCh38]
Chr1:74808776 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.548C>T (p.Thr183Ile) single nucleotide variant not provided [RCV003839258] Chr1:74336015 [GRCh38]
Chr1:74801699 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1825+10C>T single nucleotide variant not provided [RCV003833893] Chr1:74436142 [GRCh38]
Chr1:74901826 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.334-16A>G single nucleotide variant not provided [RCV003674511] Chr1:74271582 [GRCh38]
Chr1:74737266 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.682+20A>T single nucleotide variant not provided [RCV003700139] Chr1:74336169 [GRCh38]
Chr1:74801853 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2432-3C>T single nucleotide variant not provided [RCV003697451] Chr1:74543903 [GRCh38]
Chr1:75009587 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1507G>A (p.Val503Met) single nucleotide variant not provided [RCV003550080] Chr1:74369425 [GRCh38]
Chr1:74835109 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.149+13G>C single nucleotide variant not provided [RCV003674424] Chr1:74236223 [GRCh38]
Chr1:74701907 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2012-4G>T single nucleotide variant not provided [RCV003835384] Chr1:74463437 [GRCh38]
Chr1:74929121 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV003697554] Chr1:74235452 [GRCh38]
Chr1:74701136 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1467A>G (p.Ile489Met) single nucleotide variant not provided [RCV003723932] Chr1:74369259 [GRCh38]
Chr1:74834943 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.590G>A (p.Gly197Asp) single nucleotide variant not provided [RCV003725719] Chr1:74336057 [GRCh38]
Chr1:74801741 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.41A>G (p.Asp14Gly) single nucleotide variant not provided [RCV003673396] Chr1:74236102 [GRCh38]
Chr1:74701786 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1910C>G (p.Thr637Arg) single nucleotide variant not provided [RCV003664725] Chr1:74439521 [GRCh38]
Chr1:74905205 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.19A>G (p.Arg7Gly) single nucleotide variant Atrial conduction disease [RCV003994775] Chr1:74235470 [GRCh38]
Chr1:74701154 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2009C>T (p.Pro670Leu) single nucleotide variant not provided [RCV003674165] Chr1:74439620 [GRCh38]
Chr1:74905304 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1982G>C (p.Gly661Ala) single nucleotide variant not provided [RCV003850762] Chr1:74439593 [GRCh38]
Chr1:74905277 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1829C>A (p.Ser610Ter) single nucleotide variant not provided [RCV003699220] Chr1:74436477 [GRCh38]
Chr1:74902161 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2160A>G (p.Glu720=) single nucleotide variant not provided [RCV003667567] Chr1:74489227 [GRCh38]
Chr1:74954911 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2182-6A>C single nucleotide variant not provided [RCV003813732] Chr1:74492091 [GRCh38]
Chr1:74957775 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1235C>T (p.Pro412Leu) single nucleotide variant not provided [RCV003701197] Chr1:74367313 [GRCh38]
Chr1:74832997 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2253C>T (p.Asn751=) single nucleotide variant not provided [RCV003672890] Chr1:74492168 [GRCh38]
Chr1:74957852 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.983A>G (p.Gln328Arg) single nucleotide variant not provided [RCV003560833] Chr1:74353316 [GRCh38]
Chr1:74819000 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1194C>G (p.Val398=) single nucleotide variant not provided [RCV003659403] Chr1:74367272 [GRCh38]
Chr1:74832956 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1812G>A (p.Val604=) single nucleotide variant not provided [RCV003723317] Chr1:74436119 [GRCh38]
Chr1:74901803 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1466T>C (p.Ile489Thr) single nucleotide variant not provided [RCV003723461] Chr1:74369258 [GRCh38]
Chr1:74834942 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.738A>G (p.Gly246=) single nucleotide variant not provided [RCV003673548] Chr1:74342897 [GRCh38]
Chr1:74808581 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1043G>A (p.Cys348Tyr) single nucleotide variant not provided [RCV003560724] Chr1:74353995 [GRCh38]
Chr1:74819679 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1158G>T (p.Leu386Phe) single nucleotide variant not provided [RCV003723580] Chr1:74354110 [GRCh38]
Chr1:74819794 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2436T>A (p.Tyr812Ter) single nucleotide variant not provided [RCV003816286] Chr1:74543910 [GRCh38]
Chr1:75009594 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.772G>T (p.Asp258Tyr) single nucleotide variant not provided [RCV003560759] Chr1:74342931 [GRCh38]
Chr1:74808615 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.43G>A (p.Glu15Lys) single nucleotide variant not provided [RCV003701591] Chr1:74236104 [GRCh38]
Chr1:74701788 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1729C>T (p.Leu577Phe) single nucleotide variant not provided [RCV003672682] Chr1:74370349 [GRCh38]
Chr1:74836033 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.933-3C>A single nucleotide variant not provided [RCV003851358] Chr1:74353263 [GRCh38]
Chr1:74818947 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.543+6T>C single nucleotide variant not provided [RCV003666475] Chr1:74331554 [GRCh38]
Chr1:74797238 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.57A>T (p.Lys19Asn) single nucleotide variant not provided [RCV003723995] Chr1:74236118 [GRCh38]
Chr1:74701802 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.574G>C (p.Asp192His) single nucleotide variant not provided [RCV003838780] Chr1:74336041 [GRCh38]
Chr1:74801725 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.351C>A (p.Ile117=) single nucleotide variant not provided [RCV003666091] Chr1:74271615 [GRCh38]
Chr1:74737299 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.601G>A (p.Asp201Asn) single nucleotide variant not provided [RCV003672127] Chr1:74336068 [GRCh38]
Chr1:74801752 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.444+14T>C single nucleotide variant not provided [RCV003699276] Chr1:74271722 [GRCh38]
Chr1:74737406 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.840T>C (p.Asn280=) single nucleotide variant not provided [RCV003851872] Chr1:74343087 [GRCh38]
Chr1:74808771 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2182-3C>T single nucleotide variant not provided [RCV003672582] Chr1:74492094 [GRCh38]
Chr1:74957778 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.236-4del deletion not provided [RCV003560438] Chr1:74250666 [GRCh38]
Chr1:74716350 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.810A>C (p.Gly270=) single nucleotide variant not provided [RCV003855047] Chr1:74342969 [GRCh38]
Chr1:74808653 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.667G>A (p.Gly223Ser) single nucleotide variant not provided [RCV003671985] Chr1:74336134 [GRCh38]
Chr1:74801818 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1186G>T (p.Ala396Ser) single nucleotide variant not provided [RCV003663671] Chr1:74367264 [GRCh38]
Chr1:74832948 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.989T>C (p.Val330Ala) single nucleotide variant not provided [RCV003664109] Chr1:74353322 [GRCh38]
Chr1:74819006 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2189C>G (p.Ser730Cys) single nucleotide variant not provided [RCV003549741] Chr1:74492104 [GRCh38]
Chr1:74957788 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.624T>C (p.Ser208=) single nucleotide variant not provided [RCV003835334] Chr1:74336091 [GRCh38]
Chr1:74801775 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.388G>A (p.Val130Ile) single nucleotide variant not provided [RCV003698535] Chr1:74271652 [GRCh38]
Chr1:74737336 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.632G>T (p.Gly211Val) single nucleotide variant not provided [RCV003700902] Chr1:74336099 [GRCh38]
Chr1:74801783 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.235+12A>G single nucleotide variant not provided [RCV003837751] Chr1:74249556 [GRCh38]
Chr1:74715240 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1902G>A (p.Glu634=) single nucleotide variant not provided [RCV003814810] Chr1:74439513 [GRCh38]
Chr1:74905197 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1759C>T (p.Arg587Cys) single nucleotide variant not provided [RCV003671967] Chr1:74370379 [GRCh38]
Chr1:74836063 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.543+14T>G single nucleotide variant not provided [RCV003849646] Chr1:74331562 [GRCh38]
Chr1:74797246 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1878+16T>G single nucleotide variant not provided [RCV003836421] Chr1:74436542 [GRCh38]
Chr1:74902226 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1321+18C>T single nucleotide variant not provided [RCV003666581] Chr1:74367982 [GRCh38]
Chr1:74833666 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1264+11T>C single nucleotide variant not provided [RCV003846365] Chr1:74367353 [GRCh38]
Chr1:74833037 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.616C>G (p.Leu206Val) single nucleotide variant not provided [RCV003845483] Chr1:74336083 [GRCh38]
Chr1:74801767 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1905G>A (p.Val635=) single nucleotide variant not provided [RCV003864781] Chr1:74439516 [GRCh38]
Chr1:74905200 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.150-4T>C single nucleotide variant not provided [RCV003563220] Chr1:74249455 [GRCh38]
Chr1:74715139 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.211C>T (p.Leu71Phe) single nucleotide variant not provided [RCV003679364] Chr1:74249520 [GRCh38]
Chr1:74715204 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.204G>T (p.Leu68=) single nucleotide variant not provided [RCV003680247] Chr1:74249513 [GRCh38]
Chr1:74715197 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.937T>C (p.Cys313Arg) single nucleotide variant not provided [RCV003708844] Chr1:74353270 [GRCh38]
Chr1:74818954 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1321+7A>G single nucleotide variant not provided [RCV003728497] Chr1:74367971 [GRCh38]
Chr1:74833655 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.189C>T (p.Arg63=) single nucleotide variant not provided [RCV003566588] Chr1:74249498 [GRCh38]
Chr1:74715182 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.906C>T (p.Asn302=) single nucleotide variant not provided [RCV003822760] Chr1:74343153 [GRCh38]
Chr1:74808837 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.195_196insTTT (p.Glu65_Asn66insPhe) insertion not provided [RCV003680245] Chr1:74249504..74249505 [GRCh38]
Chr1:74715188..74715189 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1878G>A (p.Gly626=) single nucleotide variant not provided [RCV003682158] Chr1:74436526 [GRCh38]
Chr1:74902210 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.62_69del (p.Ser21fs) deletion not provided [RCV003670727] Chr1:74236120..74236127 [GRCh38]
Chr1:74701804..74701811 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2432-14C>G single nucleotide variant not provided [RCV003704595] Chr1:74543892 [GRCh38]
Chr1:75009576 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.457C>T (p.Leu153=) single nucleotide variant not provided [RCV003566444] Chr1:74331462 [GRCh38]
Chr1:74797146 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2432-4G>A single nucleotide variant not provided [RCV003823624] Chr1:74543902 [GRCh38]
Chr1:75009586 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2221_2222dup (p.Pro742fs) microsatellite not provided [RCV003678846] Chr1:74492129..74492130 [GRCh38]
Chr1:74957813..74957814 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.253C>G (p.Arg85Gly) single nucleotide variant not provided [RCV003863312] Chr1:74250689 [GRCh38]
Chr1:74716373 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2008C>A (p.Pro670Thr) single nucleotide variant not provided [RCV003732403] Chr1:74439619 [GRCh38]
Chr1:74905303 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.195A>T (p.Glu65Asp) single nucleotide variant not provided [RCV003680520] Chr1:74249504 [GRCh38]
Chr1:74715188 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1808T>C (p.Val603Ala) single nucleotide variant not provided [RCV003682338] Chr1:74436115 [GRCh38]
Chr1:74901799 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1790A>G (p.Tyr597Cys) single nucleotide variant not provided [RCV003858025] Chr1:74436097 [GRCh38]
Chr1:74901781 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1061del (p.Arg354fs) deletion not provided [RCV003566097] Chr1:74354013 [GRCh38]
Chr1:74819697 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1878+9C>T single nucleotide variant not provided [RCV003846960] Chr1:74436535 [GRCh38]
Chr1:74902219 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2187G>T (p.Met729Ile) single nucleotide variant not provided [RCV003853116] Chr1:74492102 [GRCh38]
Chr1:74957786 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.444+14_444+15del deletion not provided [RCV003847284] Chr1:74271721..74271722 [GRCh38]
Chr1:74737405..74737406 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1667+9C>A single nucleotide variant not provided [RCV003683067] Chr1:74369594 [GRCh38]
Chr1:74835278 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.23C>A (p.Pro8Gln) single nucleotide variant not provided [RCV003567327] Chr1:74235474 [GRCh38]
Chr1:74701158 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2181+7G>T single nucleotide variant not provided [RCV003846603] Chr1:74489255 [GRCh38]
Chr1:74954939 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1434T>C (p.Tyr478=) single nucleotide variant not provided [RCV003719135] Chr1:74369226 [GRCh38]
Chr1:74834910 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.201_204del (p.Ser69fs) deletion not provided [RCV003680246] Chr1:74249509..74249512 [GRCh38]
Chr1:74715193..74715196 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1984G>C (p.Glu662Gln) single nucleotide variant not provided [RCV003685287] Chr1:74439595 [GRCh38]
Chr1:74905279 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1346G>A (p.Arg449Lys) single nucleotide variant not provided [RCV003557628] Chr1:74369046 [GRCh38]
Chr1:74834730 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.534A>G (p.Gly178=) single nucleotide variant not provided [RCV003867680] Chr1:74331539 [GRCh38]
Chr1:74797223 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1592A>T (p.Asp531Val) single nucleotide variant not provided [RCV003737662] Chr1:74369510 [GRCh38]
Chr1:74835194 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2403T>C (p.Ser801=) single nucleotide variant not provided [RCV003840839] Chr1:74540285 [GRCh38]
Chr1:75005969 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2087C>A (p.Ser696Tyr) single nucleotide variant not provided [RCV003550616] Chr1:74463516 [GRCh38]
Chr1:74929200 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1422del (p.Phe474fs) deletion not provided [RCV003853599] Chr1:74369211 [GRCh38]
Chr1:74834895 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2210G>A (p.Ser737Asn) single nucleotide variant not provided [RCV003864123] Chr1:74492125 [GRCh38]
Chr1:74957809 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1322-14A>G single nucleotide variant not provided [RCV003866224] Chr1:74369008 [GRCh38]
Chr1:74834692 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1418C>A (p.Ser473Tyr) single nucleotide variant not provided [RCV003712448] Chr1:74369210 [GRCh38]
Chr1:74834894 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.827+6_827+15del deletion not provided [RCV003712455] Chr1:74342990..74342999 [GRCh38]
Chr1:74808674..74808683 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.912C>A (p.Phe304Leu) single nucleotide variant not provided [RCV003712456] Chr1:74343159 [GRCh38]
Chr1:74808843 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.41-15G>T single nucleotide variant not provided [RCV003684280] Chr1:74236087 [GRCh38]
Chr1:74701771 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.754_755delinsGG (p.Lys252Gly) indel not provided [RCV003675060] Chr1:74342913..74342914 [GRCh38]
Chr1:74808597..74808598 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1948A>C (p.Ser650Arg) single nucleotide variant not provided [RCV003677682] Chr1:74439559 [GRCh38]
Chr1:74905243 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2028C>T (p.Asp676=) single nucleotide variant not provided [RCV003868318] Chr1:74463457 [GRCh38]
Chr1:74929141 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2260G>A (p.Gly754Arg) single nucleotide variant not provided [RCV003867538] Chr1:74492175 [GRCh38]
Chr1:74957859 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1772+10T>C single nucleotide variant not provided [RCV003846044] Chr1:74370402 [GRCh38]
Chr1:74836086 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2414C>T (p.Thr805Ile) single nucleotide variant not provided [RCV003681788] Chr1:74540296 [GRCh38]
Chr1:75005980 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:74742161-74907436)x1 copy number loss not specified [RCV003986316] Chr1:74742161..74907436 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.569G>A (p.Gly190Asp) single nucleotide variant not provided [RCV003867994] Chr1:74336036 [GRCh38]
Chr1:74801720 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1670T>C (p.Ile557Thr) single nucleotide variant not provided [RCV003676607] Chr1:74370290 [GRCh38]
Chr1:74835974 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1414+10A>C single nucleotide variant not provided [RCV003709088] Chr1:74369124 [GRCh38]
Chr1:74834808 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1063C>T (p.Leu355=) single nucleotide variant not provided [RCV003730593] Chr1:74354015 [GRCh38]
Chr1:74819699 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.786A>T (p.Gln262His) single nucleotide variant not provided [RCV003857942] Chr1:74342945 [GRCh38]
Chr1:74808629 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1332T>C (p.Asp444=) single nucleotide variant not provided [RCV003721460] Chr1:74369032 [GRCh38]
Chr1:74834716 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1659G>A (p.Glu553=) single nucleotide variant TNNI3K-related disorder [RCV004741738]|not provided [RCV003845078] Chr1:74369577 [GRCh38]
Chr1:74835261 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1179G>A (p.Gly393=) single nucleotide variant not provided [RCV003863355] Chr1:74367257 [GRCh38]
Chr1:74832941 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1302G>A (p.Lys434=) single nucleotide variant not provided [RCV003682472] Chr1:74367945 [GRCh38]
Chr1:74833629 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1968G>A (p.Trp656Ter) single nucleotide variant not provided [RCV003721146] Chr1:74439579 [GRCh38]
Chr1:74905263 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1471C>G (p.Arg491Gly) single nucleotide variant not provided [RCV003861450] Chr1:74369263 [GRCh38]
Chr1:74834947 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.689C>T (p.Ala230Val) single nucleotide variant not provided [RCV003723092] Chr1:74342848 [GRCh38]
Chr1:74808532 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.776T>C (p.Leu259Ser) single nucleotide variant not provided [RCV003677393] Chr1:74342935 [GRCh38]
Chr1:74808619 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.472G>A (p.Ala158Thr) single nucleotide variant not provided [RCV003706692] Chr1:74331477 [GRCh38]
Chr1:74797161 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2351+18C>T single nucleotide variant not provided [RCV003845355] Chr1:74492284 [GRCh38]
Chr1:74957968 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2121+5G>C single nucleotide variant not provided [RCV003853544] Chr1:74463555 [GRCh38]
Chr1:74929239 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1697T>C (p.Ile566Thr) single nucleotide variant not provided [RCV003720482] Chr1:74370317 [GRCh38]
Chr1:74836001 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.421G>T (p.Ala141Ser) single nucleotide variant not provided [RCV003712261] Chr1:74271685 [GRCh38]
Chr1:74737369 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2432-11T>G single nucleotide variant not provided [RCV003869991] Chr1:74543895 [GRCh38]
Chr1:75009579 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2351+19_2351+23dup duplication not provided [RCV003841158] Chr1:74492283..74492284 [GRCh38]
Chr1:74957967..74957968 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1169A>G (p.Tyr390Cys) single nucleotide variant not provided [RCV003550867] Chr1:74354121 [GRCh38]
Chr1:74819805 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.235+5G>A single nucleotide variant not provided [RCV003843964] Chr1:74249549 [GRCh38]
Chr1:74715233 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1522C>A (p.Arg508=) single nucleotide variant not provided [RCV003867799] Chr1:74369440 [GRCh38]
Chr1:74835124 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.544-20C>A single nucleotide variant not provided [RCV003867890] Chr1:74335991 [GRCh38]
Chr1:74801675 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2182-4T>C single nucleotide variant not provided [RCV003683636] Chr1:74492093 [GRCh38]
Chr1:74957777 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2432-11T>C single nucleotide variant not provided [RCV003677854] Chr1:74543895 [GRCh38]
Chr1:75009579 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1804G>A (p.Ala602Thr) single nucleotide variant not provided [RCV003709917] Chr1:74436111 [GRCh38]
Chr1:74901795 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2122-20G>T single nucleotide variant not provided [RCV003841459] Chr1:74489169 [GRCh38]
Chr1:74954853 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.445-6G>T single nucleotide variant not provided [RCV003682181] Chr1:74331444 [GRCh38]
Chr1:74797128 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.2351+17G>A single nucleotide variant not provided [RCV003845633] Chr1:74492283 [GRCh38]
Chr1:74957967 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1205A>G (p.Lys402Arg) single nucleotide variant not provided [RCV003681187] Chr1:74367283 [GRCh38]
Chr1:74832967 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1793A>C (p.Glu598Ala) single nucleotide variant not provided [RCV003711443] Chr1:74436100 [GRCh38]
Chr1:74901784 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2468A>T (p.His823Leu) single nucleotide variant not provided [RCV003859444] Chr1:74543942 [GRCh38]
Chr1:75009626 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1056C>T (p.His352=) single nucleotide variant not provided [RCV003674690] Chr1:74354008 [GRCh38]
Chr1:74819692 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1137A>G (p.Glu379=) single nucleotide variant not provided [RCV003565759] Chr1:74354089 [GRCh38]
Chr1:74819773 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1384G>A (p.Glu462Lys) single nucleotide variant not provided [RCV003844378] Chr1:74369084 [GRCh38]
Chr1:74834768 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1156T>A (p.Leu386Met) single nucleotide variant not provided [RCV003705150] Chr1:74354108 [GRCh38]
Chr1:74819792 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.90A>G (p.Arg30=) single nucleotide variant not provided [RCV003706374] Chr1:74236151 [GRCh38]
Chr1:74701835 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1548C>T (p.Leu516=) single nucleotide variant not provided [RCV003677212] Chr1:74369466 [GRCh38]
Chr1:74835150 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.200G>A (p.Gly67Glu) single nucleotide variant not provided [RCV003707996] Chr1:74249509 [GRCh38]
Chr1:74715193 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.37A>G (p.Thr13Ala) single nucleotide variant not provided [RCV003860676] Chr1:74235488 [GRCh38]
Chr1:74701172 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.677C>A (p.Ala226Glu) single nucleotide variant not provided [RCV003563869] Chr1:74336144 [GRCh38]
Chr1:74801828 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1840C>A (p.Gln614Lys) single nucleotide variant not provided [RCV003677337] Chr1:74436488 [GRCh38]
Chr1:74902172 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1620A>T (p.Gln540His) single nucleotide variant not provided [RCV003841044] Chr1:74369538 [GRCh38]
Chr1:74835222 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2085A>T (p.Ser695=) single nucleotide variant not provided [RCV003858445] Chr1:74463514 [GRCh38]
Chr1:74929198 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.315G>A (p.Leu105=) single nucleotide variant not provided [RCV003564997] Chr1:74250751 [GRCh38]
Chr1:74716435 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.990C>T (p.Val330=) single nucleotide variant not provided [RCV003678484] Chr1:74353323 [GRCh38]
Chr1:74819007 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.1960T>C (p.Cys654Arg) single nucleotide variant not provided [RCV003729905] Chr1:74439571 [GRCh38]
Chr1:74905255 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1027+11G>A single nucleotide variant not provided [RCV003861341] Chr1:74353371 [GRCh38]
Chr1:74819055 [GRCh37]
Chr1:1p31.1		 likely benign
NM_015978.3(TNNI3K):c.209dup (p.Leu71fs) duplication not provided [RCV003708084] Chr1:74249517..74249518 [GRCh38]
Chr1:74715201..74715202 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2122-31_2122-15del deletion not provided [RCV003679361] Chr1:74489153..74489169 [GRCh38]
Chr1:74954837..74954853 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1714A>G (p.Lys572Glu) single nucleotide variant not provided [RCV003859129] Chr1:74370334 [GRCh38]
Chr1:74836018 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.908T>A (p.Ile303Asn) single nucleotide variant not provided [RCV003736242] Chr1:74343155 [GRCh38]
Chr1:74808839 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1 copy number loss not provided [RCV003885448] Chr1:73616197..87012961 [GRCh37]
Chr1:1p31.1-22.3		 likely pathogenic
NM_015978.3(TNNI3K):c.92T>G (p.Leu31Ter) single nucleotide variant Primary dilated cardiomyopathy [RCV003994683] Chr1:74236153 [GRCh38]
Chr1:74701837 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001112808.3(FPGT-TNNI3K):c.2799G>A (p.Glu933=) single nucleotide variant FPGT-TNNI3K-related disorder [RCV003944664] Chr1:74543970 [GRCh38]
Chr1:75009654 [GRCh37]
Chr1:1p31.1		 likely benign
NM_001112808.3(FPGT-TNNI3K):c.1742G>A (p.Gly581Glu) single nucleotide variant not specified [RCV004394508] Chr1:74369231 [GRCh38]
Chr1:74834915 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74701070)_(74701895_?)dup duplication Atrial conduction disease [RCV004018396] Chr1:74701070..74701895 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2222C>A (p.Ser741Ter) single nucleotide variant Atrial conduction disease [RCV004547273] Chr1:74492137 [GRCh38]
Chr1:74957821 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_001112808.3(FPGT-TNNI3K):c.1481G>T (p.Gly494Val) single nucleotide variant not specified [RCV004394506] Chr1:74367256 [GRCh38]
Chr1:74832940 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001112808.3(FPGT-TNNI3K):c.1592C>A (p.Ser531Ter) single nucleotide variant not specified [RCV004394507] Chr1:74367932 [GRCh38]
Chr1:74833616 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.791A>T (p.His264Leu) single nucleotide variant Atrial conduction disease [RCV004577170] Chr1:74342950 [GRCh38]
Chr1:74808634 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1795G>A (p.Asp599Asn) single nucleotide variant Inborn genetic diseases [RCV004475416] Chr1:74436102 [GRCh38]
Chr1:74901786 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2176A>G (p.Ile726Val) single nucleotide variant Inborn genetic diseases [RCV004475417] Chr1:74489243 [GRCh38]
Chr1:74954927 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1327G>T (p.Ala443Ser) single nucleotide variant Inborn genetic diseases [RCV004475414] Chr1:74369027 [GRCh38]
Chr1:74834711 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1328C>A (p.Ala443Glu) single nucleotide variant Inborn genetic diseases [RCV004475415] Chr1:74369028 [GRCh38]
Chr1:74834712 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74737262)_(74737412_?)del deletion not provided [RCV004579164] Chr1:74737262..74737412 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74701136)_(75009666_?)dup duplication not provided [RCV004579165] Chr1:74701136..75009666 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74701136)_(74715248_?)dup duplication not provided [RCV004579166] Chr1:74701136..74715248 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_74954853)_(75009666_?)dup duplication not provided [RCV004579167] Chr1:74954853..75009666 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.2451G>T (p.Met817Ile) single nucleotide variant Inborn genetic diseases [RCV004682248] Chr1:74543925 [GRCh38]
Chr1:75009609 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1916G>A (p.Cys639Tyr) single nucleotide variant not provided [RCV004698177] Chr1:74439527 [GRCh38]
Chr1:74905211 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1818T>A (p.Asp606Glu) single nucleotide variant not provided [RCV004781436] Chr1:74436125 [GRCh38]
Chr1:74901809 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.197del (p.Asn66fs) deletion not provided [RCV004778807] Chr1:74249503 [GRCh38]
Chr1:74715187 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001112808.3(FPGT-TNNI3K):c.2616T>G (p.Tyr872Ter) single nucleotide variant not specified [RCV004919478] Chr1:74492228 [GRCh38]
Chr1:74957912 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1940A>T (p.Asp647Val) single nucleotide variant not provided [RCV005052439] Chr1:74439551 [GRCh38]
Chr1:74905235 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.46T>C (p.Trp16Arg) single nucleotide variant Inborn genetic diseases [RCV004967027] Chr1:74236107 [GRCh38]
Chr1:74701791 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p34.1-22.2(chr1:44475302-89585894)x3 copy number gain not provided [RCV004819297] Chr1:44475302..89585894 [GRCh37]
Chr1:1p34.1-22.2		 pathogenic
NM_015978.3(TNNI3K):c.2352T>G (p.Ser784Arg) single nucleotide variant Inborn genetic diseases [RCV004967029] Chr1:74540234 [GRCh38]
Chr1:75005918 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.1401G>C (p.Glu467Asp) single nucleotide variant Inborn genetic diseases [RCV004967026] Chr1:74369101 [GRCh38]
Chr1:74834785 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_015978.3(TNNI3K):c.847T>C (p.Phe283Leu) single nucleotide variant Inborn genetic diseases [RCV004967028] Chr1:74343094 [GRCh38]
Chr1:74808778 [GRCh37]
Chr1:1p31.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1258
Count of miRNA genes:743
Interacting mature miRNAs:837
Transcripts:ENST00000326637, ENST00000370889, ENST00000370891, ENST00000370893, ENST00000465473, ENST00000497284, ENST00000525480, ENST00000526236, ENST00000530184, ENST00000533006, ENST00000534020
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597162646GWAS1258720_Hlipid measurement QTL GWAS1258720 (human)0.000003lipid measurementblood lipid measurement (CMO:0000050)17442691874426919Human
407009857GWAS658833_Hobesity QTL GWAS658833 (human)1e-08obesity17452737974527380Human
597070226GWAS1166300_Hsmoking behavior, body mass index QTL GWAS1166300 (human)0.0000003smoking behavior, body mass indexbody mass index (BMI) (CMO:0000105)17453650974536510Human
597399454GWAS1495528_Hbody mass index QTL GWAS1495528 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)17451815174518152Human
597472665GWAS1568739_Hbody mass index QTL GWAS1568739 (human)1e-17body mass indexbody mass index (BMI) (CMO:0000105)17453207874532079Human
597070227GWAS1166301_Hsmoking behavior, body mass index QTL GWAS1166301 (human)2e-08smoking behavior, body mass indexbody mass index (BMI) (CMO:0000105)17453650974536510Human
597399443GWAS1495517_Hbody mass index QTL GWAS1495517 (human)0.000002body mass indexbody mass index (BMI) (CMO:0000105)17451815174518152Human
597399441GWAS1495515_Hbody mass index QTL GWAS1495515 (human)5e-08body mass indexbody mass index (BMI) (CMO:0000105)17451815174518152Human
597399440GWAS1495514_Hbody mass index QTL GWAS1495514 (human)0.0000004body mass indexbody mass index (BMI) (CMO:0000105)17451815174518152Human
597362325GWAS1458399_Hbody mass index QTL GWAS1458399 (human)2e-10body mass indexbody mass index (BMI) (CMO:0000105)17453781674537817Human
597389707GWAS1485781_Hobesity QTL GWAS1485781 (human)2e-11obesity17451815174518152Human
597064581GWAS1160655_Hphysical activity measurement, body mass index QTL GWAS1160655 (human)4e-09wellness/fitness trait (VT:1000152)body mass index (BMI) (CMO:0000105)17452763474527635Human
407228752GWAS877728_Hbody mass index QTL GWAS877728 (human)1e-11body mass indexbody mass index (BMI) (CMO:0000105)17453650974536510Human
597519240GWAS1615314_Hbody mass index QTL GWAS1615314 (human)1e-33body mass indexbody mass index (BMI) (CMO:0000105)17454034374540344Human
597360258GWAS1456332_Hage at menarche QTL GWAS1456332 (human)2e-12age at menarche17451218674512187Human
597027725GWAS1123799_Hbody mass index QTL GWAS1123799 (human)8e-30body mass indexbody mass index (BMI) (CMO:0000105)17452571874525719Human
407163998GWAS812974_Hage at menarche QTL GWAS812974 (human)2e-16age at menarche17454103674541037Human
2292793PRSTS24_HProstate tumor susceptibility QTL 24 (human)Prostate tumor susceptibilitylate onset16853299294532992Human
597479298GWAS1575372_Hsmoking status measurement QTL GWAS1575372 (human)8e-14smoking status measurement17452591274525913Human
597399481GWAS1495555_Hbody mass index QTL GWAS1495555 (human)0.0000001body mass indexbody mass index (BMI) (CMO:0000105)17451815174518152Human
597299385GWAS1395459_Hbody mass index QTL GWAS1395459 (human)1e-26body mass indexbody mass index (BMI) (CMO:0000105)17452954174529542Human
597064639GWAS1160713_Hphysical activity measurement, body mass index QTL GWAS1160713 (human)2e-08wellness/fitness trait (VT:1000152)body mass index (BMI) (CMO:0000105)17452954174529542Human
597070015GWAS1166089_Hsmoking behavior, body mass index QTL GWAS1166089 (human)0.0000008smoking behavior, body mass indexbody mass index (BMI) (CMO:0000105)17453650974536510Human
597398962GWAS1495036_Hbody mass index QTL GWAS1495036 (human)9e-14body mass indexbody mass index (BMI) (CMO:0000105)17453955474539555Human
407132527GWAS781503_Hbody mass index QTL GWAS781503 (human)2e-15body mass indexbody mass index (BMI) (CMO:0000105)17453650974536510Human
597529520GWAS1625594_Hbody mass index QTL GWAS1625594 (human)3e-19body mass indexbody mass index (BMI) (CMO:0000105)17453955474539555Human
596962212GWAS1081731_Hbody mass index QTL GWAS1081731 (human)3e-14body mass index17453207874532079Human
597224878GWAS1320952_Hage at first sexual intercourse measurement QTL GWAS1320952 (human)3e-12age at first sexual intercourse measurement17453579074535791Human
597069998GWAS1166072_Hsmoking behavior, body mass index QTL GWAS1166072 (human)7e-09smoking behavior, body mass indexbody mass index (BMI) (CMO:0000105)17453650974536510Human
597399970GWAS1496044_Hinsomnia QTL GWAS1496044 (human)6e-09insomnia17445038074450381Human
597065132GWAS1161206_Hbody mass index QTL GWAS1161206 (human)9e-09body mass indexbody mass index (BMI) (CMO:0000105)17452954174529542Human
407378036GWAS1027012_Hsmoking behavior QTL GWAS1027012 (human)6e-12smoking behavior17452803774528038Human
597399770GWAS1495844_Hbody mass index QTL GWAS1495844 (human)0.0000006body mass indexbody mass index (BMI) (CMO:0000105)17451815174518152Human
597437145GWAS1533219_Hlipid measurement QTL GWAS1533219 (human)0.000009lipid measurementblood lipid measurement (CMO:0000050)17452806774528068Human
597231827GWAS1327901_Hself reported educational attainment QTL GWAS1327901 (human)2e-16self reported educational attainment17439304074393041Human
597437143GWAS1533217_Hlipid measurement QTL GWAS1533217 (human)0.000001lipid measurementblood lipid measurement (CMO:0000050)17452806774528068Human
597064411GWAS1160485_Hphysical activity measurement, body mass index QTL GWAS1160485 (human)3e-10wellness/fitness trait (VT:1000152)body mass index (BMI) (CMO:0000105)17452763474527635Human
596958917GWAS1078436_Hmetabolic syndrome QTL GWAS1078436 (human)2e-12metabolic syndrome17453207874532079Human
597347019GWAS1443093_Hbody mass index QTL GWAS1443093 (human)9e-62body mass indexbody mass index (BMI) (CMO:0000105)17454103674541037Human
597065666GWAS1161740_Hphysical activity measurement, body mass index QTL GWAS1161740 (human)4e-10wellness/fitness trait (VT:1000152)body mass index (BMI) (CMO:0000105)17452763474527635Human
597531077GWAS1627151_Hsmoking initiation QTL GWAS1627151 (human)3e-39smoking initiation17452596074525961Human
407230748GWAS879724_Hbody mass index QTL GWAS879724 (human)3e-15body mass indexbody mass index (BMI) (CMO:0000105)17453650974536510Human
596988622GWAS1108141_Hbody mass index QTL GWAS1108141 (human)1e-26body mass index17452954174529542Human
597462465GWAS1558539_Hbody mass index QTL GWAS1558539 (human)2e-28body mass indexbody mass index (BMI) (CMO:0000105)17451174174511742Human
407371045GWAS1020021_Hsmoking initiation QTL GWAS1020021 (human)5e-09smoking initiation17453955474539555Human
597477119GWAS1573193_Hcomparative body size at age 10, self-reported QTL GWAS1573193 (human)3e-84comparative body size at age 10, self-reported17453207874532079Human
406885923GWAS534899_Hbody mass index QTL GWAS534899 (human)2e-19body mass index17453955474539555Human
1578620LDLPS20_HLow density lipoprotein particle size QTL 21 (human)2.040.00046LDL particle size15253110578531105Human
597508089GWAS1604163_Hrisk-taking behaviour QTL GWAS1604163 (human)6e-10risk-taking behaviour17451815174518152Human
597168382GWAS1264456_Hbody mass index QTL GWAS1264456 (human)1e-20body mass indexbody mass index (BMI) (CMO:0000105)17453473374534734Human
597338355GWAS1434429_Hpuberty onset measurement QTL GWAS1434429 (human)0.000002puberty onset measurement17452571874525719Human
597066749GWAS1162823_Hfear of medical pain measurement QTL GWAS1162823 (human)0.0000009fear of medical pain measurement17424287574242876Human
1578602LDLPS21_HLow density lipoprotein particle size QTL 21 (human)2.050.00037LDL particle size15253110578531105Human
596958435GWAS1077954_Hsmoking initiation QTL GWAS1077954 (human)5e-09smoking initiation17453955474539555Human
2316890GLUCO302_HGlucose level QTL 302 (human)0.005Glucose level16853299294532992Human
2289499BW445_HBody weight QTL 445 (human)2.26Body morphometrywaist to hip ratio16853299294532992Human
1578594LDLPS19_HLow density lipoprotein particle size QTL 19 (human)2.560.00009LDL particle size15253110578531105Human
597382119GWAS1478193_Hage at menarche QTL GWAS1478193 (human)6e-39age at menarche17453938374539384Human
596968424GWAS1087943_Hbody mass index QTL GWAS1087943 (human)3e-19body mass index17453955474539555Human
597416677GWAS1512751_Hfat body mass QTL GWAS1512751 (human)1e-13body fat mass (VT:0010482)total body fat mass (CMO:0000305)17453781674537817Human
597398795GWAS1494869_Hbody mass index QTL GWAS1494869 (human)7e-09body mass indexbody mass index (BMI) (CMO:0000105)17451815174518152Human
597370889GWAS1466963_Hbody mass index QTL GWAS1466963 (human)1e-18body mass indexbody mass index (BMI) (CMO:0000105)17451174174511742Human
597498634GWAS1594708_Hbody mass index QTL GWAS1594708 (human)4e-28body mass indexbody mass index (BMI) (CMO:0000105)17452596074525961Human
597019918GWAS1115992_Hsex interaction measurement, body mass index, age at assessment QTL GWAS1115992 (human)1e-15sex interaction measurement, body mass index, age at assessmentbody mass index (BMI) (CMO:0000105)17452737974527380Human
597467907GWAS1563981_Hbody mass index QTL GWAS1563981 (human)4e-17body mass indexbody mass index (BMI) (CMO:0000105)17453938374539384Human
596987445GWAS1106964_Hresting heart rate QTL GWAS1106964 (human)2e-08resting heart rate17450289074502891Human
597126454GWAS1222528_Hbody mass index QTL GWAS1222528 (human)0.0000004body mass indexbody mass index (BMI) (CMO:0000105)17451344274513443Human
597115455GWAS1211529_Hcognitive function measurement QTL GWAS1211529 (human)1e-10cognitive function measurement17448937774489378Human
597378867GWAS1474941_Hbody mass index QTL GWAS1474941 (human)8e-14body mass indexbody mass index (BMI) (CMO:0000105)17452596074525961Human
597019961GWAS1116035_Hbody mass index QTL GWAS1116035 (human)4e-13body mass indexbody mass index (BMI) (CMO:0000105)17452737974527380Human
597075000GWAS1171074_Hbody mass index QTL GWAS1171074 (human)6e-19body mass indexbody mass index (BMI) (CMO:0000105)17453650974536510Human
597065510GWAS1161584_Hphysical activity measurement, body mass index QTL GWAS1161584 (human)1e-09wellness/fitness trait (VT:1000152)body mass index (BMI) (CMO:0000105)17452954174529542Human
597065511GWAS1161585_Hbody mass index QTL GWAS1161585 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)17452954174529542Human
407089904GWAS738880_Hbody height QTL GWAS738880 (human)2e-14body height17453955474539555Human
597228333GWAS1324407_Hsmoking status measurement QTL GWAS1324407 (human)5e-19smoking status measurement17453579074535791Human
596968749GWAS1088268_Hbody height QTL GWAS1088268 (human)2e-14body height17453955474539555Human
597463589GWAS1559663_Hparental longevity QTL GWAS1559663 (human)5e-08total life span (VT:0001661)17440211574402116Human
597463845GWAS1559919_Hbody mass index QTL GWAS1559919 (human)2e-19body mass indexbody mass index (BMI) (CMO:0000105)17453955474539555Human
407098105GWAS747081_Hbody mass index QTL GWAS747081 (human)3e-19body mass index17453955474539555Human
597051947GWAS1148021_Hsmoking status measurement QTL GWAS1148021 (human)9e-11smoking status measurement17452737974527380Human
597605408GWAS1662268_Heducational attainment QTL GWAS1662268 (human)1e-17educational attainment17435725374357254Human
597339172GWAS1435246_Hpuberty onset measurement QTL GWAS1435246 (human)6e-11puberty onset measurement17452571874525719Human
597373530GWAS1469604_Hbody mass index QTL GWAS1469604 (human)3e-11body mass indexbody mass index (BMI) (CMO:0000105)17452596074525961Human
596969044GWAS1088563_Hbody mass index QTL GWAS1088563 (human)9e-14body mass index17453955474539555Human
597019222GWAS1115296_Hbody mass index QTL GWAS1115296 (human)0.0000001body mass indexbody mass index (BMI) (CMO:0000105)17453650974536510Human
597242717GWAS1338791_Hsmoking status measurement QTL GWAS1338791 (human)7e-10smoking status measurement17452737974527380Human
597457498GWAS1553572_Hbody mass index QTL GWAS1553572 (human)3e-13body mass indexbody mass index (BMI) (CMO:0000105)17453579674535797Human
407135874GWAS784850_Hbody mass index QTL GWAS784850 (human)2e-10body mass indexbody mass index (BMI) (CMO:0000105)17453650974536510Human
597019716GWAS1115790_Hbody mass index, age at assessment QTL GWAS1115790 (human)0.000003body mass index, age at assessmentbody mass index (BMI) (CMO:0000105)17452737974527380Human
597374542GWAS1470616_Hinsomnia measurement QTL GWAS1470616 (human)4e-08sleep behavior trait (VT:0001501)17441256974412570Human
596952655GWAS1072174_Hbody mass index QTL GWAS1072174 (human)3e-13body mass index17453579674535797Human
597019766GWAS1115840_Hbody mass index QTL GWAS1115840 (human)3e-15body mass indexbody mass index (BMI) (CMO:0000105)17452737974527380Human
406910119GWAS559095_Hobesity QTL GWAS559095 (human)5e-09obesity17452571874525719Human
597460340GWAS1556414_Hsmoking initiation QTL GWAS1556414 (human)5e-09smoking initiation17452596074525961Human
597410160GWAS1506234_Hmetabolic syndrome QTL GWAS1506234 (human)2e-12metabolic syndrome17453207874532079Human
597389936GWAS1486010_Hsmoking initiation QTL GWAS1486010 (human)5e-09smoking initiation17453955474539555Human
597108344GWAS1204418_Hself reported educational attainment QTL GWAS1204418 (human)6e-16self reported educational attainment17439304074393041Human
596953979GWAS1073498_Hbody mass index QTL GWAS1073498 (human)2e-19body mass index17453955474539555Human
597472108GWAS1568182_Hbody mass index QTL GWAS1568182 (human)3e-14body mass indexbody mass index (BMI) (CMO:0000105)17453207874532079Human
597465710GWAS1561784_Hsmoking initiation QTL GWAS1561784 (human)2e-10smoking initiation17452596074525961Human
597469798GWAS1565872_Hmathematical ability QTL GWAS1565872 (human)2e-12mathematical ability17451867774518678Human
597247331GWAS1343405_Hage at menarche QTL GWAS1343405 (human)0.0000002age at menarche17452763474527635Human
597288035GWAS1384109_Hbody weight QTL GWAS1384109 (human)7e-15body mass (VT:0001259)body weight (CMO:0000012)17453473374534734Human
1581539BP75_HBlood pressure QTL 75 (human)2.40.001Blood pressurepulse pressure16853299294532992Human
597064813GWAS1160887_Hbody mass index QTL GWAS1160887 (human)6e-08body mass indexbody mass index (BMI) (CMO:0000105)17452763474527635Human
597062250GWAS1158324_Hphysical activity measurement, body mass index QTL GWAS1158324 (human)5e-09wellness/fitness trait (VT:1000152)body mass index (BMI) (CMO:0000105)17452954174529542Human
597613921GWAS1670781_Hbronchial disease QTL GWAS1670781 (human)9e-14bronchial disease17442143474421435Human

Markers in Region
A005C44  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,672,590 - 74,672,691UniSTSGRCh37
Build 36174,445,178 - 74,445,279RGDNCBI36
Celera172,918,143 - 72,918,244RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,807,389 - 72,807,490UniSTS
GeneMap99-GB4 RH Map1189.5UniSTS
AL009475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,866,877 - 74,866,958UniSTSGRCh37
Build 36174,639,465 - 74,639,546RGDNCBI36
Celera173,112,281 - 73,112,362RGD
Cytogenetic Map1p31.1UniSTS
HuRef173,001,421 - 73,001,502UniSTS
SGC38103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,674,038 - 74,674,286UniSTSGRCh37
Build 36174,446,626 - 74,446,874RGDNCBI36
Celera172,919,590 - 72,919,838RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,808,836 - 72,809,084UniSTS
GeneMap99-GB4 RH Map1190.59UniSTS
Whitehead-RH Map1225.8UniSTS
D1S3377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,672,560 - 74,672,812UniSTSGRCh37
Build 36174,445,148 - 74,445,400RGDNCBI36
Celera172,918,113 - 72,918,365RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,807,359 - 72,807,611UniSTS
GeneMap99-GB4 RH Map1187.68UniSTS
GeneMap99-GB4 RH Map1195.12UniSTS
Whitehead-RH Map1216.7UniSTS
Whitehead-YAC Contig Map1 UniSTS
RH92878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,706,079 - 74,706,200UniSTSGRCh37
Build 36174,478,667 - 74,478,788RGDNCBI36
Celera172,951,629 - 72,951,750RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,840,873 - 72,840,994UniSTS
GeneMap99-GB4 RH Map1191.67UniSTS
AL033647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,795,496 - 74,795,616UniSTSGRCh37
Build 36174,568,084 - 74,568,204RGDNCBI36
Celera173,040,902 - 73,041,022RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,930,113 - 72,930,233UniSTS
SHGC-82732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37175,000,495 - 75,000,768UniSTSGRCh37
Build 36174,773,083 - 74,773,356RGDNCBI36
Celera173,245,810 - 73,246,083RGD
Cytogenetic Map1p31.1UniSTS
HuRef173,135,015 - 73,135,288UniSTS
RH102630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37175,009,922 - 75,010,022UniSTSGRCh37
Build 36174,782,510 - 74,782,610RGDNCBI36
Celera173,255,235 - 73,255,335RGD
Cytogenetic Map1p31.1UniSTS
HuRef173,144,436 - 73,144,536UniSTS
GeneMap99-GB4 RH Map1197.22UniSTS
SHGC-84880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,665,428 - 74,665,727UniSTSGRCh37
Build 36174,438,016 - 74,438,315RGDNCBI36
Celera172,910,991 - 72,911,290RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,800,328 - 72,800,627UniSTS
D1S1962E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,670,916 - 74,671,006UniSTSGRCh37
Build 36174,443,504 - 74,443,594RGDNCBI36
Celera172,916,469 - 72,916,559RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,805,715 - 72,805,805UniSTS
AL009456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,919,430 - 74,919,562UniSTSGRCh37
Build 36174,692,018 - 74,692,150RGDNCBI36
Celera173,164,729 - 73,164,861RGD
Cytogenetic Map1p31.1UniSTS
HuRef173,053,969 - 73,054,101UniSTS
G65707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,829,151 - 74,829,383UniSTSGRCh37
Build 36174,601,739 - 74,601,971RGDNCBI36
Celera173,074,557 - 73,074,789RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,963,773 - 72,964,005UniSTS
FPGT_8857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,672,156 - 74,672,997UniSTSGRCh37
Build 36174,444,744 - 74,445,585RGDNCBI36
Celera172,917,709 - 72,918,550RGD
HuRef172,806,955 - 72,807,796UniSTS
SHGC-31192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,829,432 - 74,829,568UniSTSGRCh37
Build 36174,602,020 - 74,602,156RGDNCBI36
Celera173,074,838 - 73,074,974RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,964,054 - 72,964,190UniSTS
GeneMap99-GB4 RH Map1190.3UniSTS
Whitehead-RH Map1225.5UniSTS
AL009884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,954,397 - 74,954,532UniSTSGRCh37
Build 36174,726,985 - 74,727,120RGDNCBI36
Celera173,199,710 - 73,199,845RGD
Cytogenetic Map1p31.1UniSTS
HuRef173,088,939 - 73,089,074UniSTS
RH12316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,670,889 - 74,671,002UniSTSGRCh37
Build 36174,443,477 - 74,443,590RGDNCBI36
Celera172,916,442 - 72,916,555RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,805,688 - 72,805,801UniSTS
GeneMap99-GB4 RH Map1191.36UniSTS


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA758546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC119672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF116826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY303691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG187210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX470253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX502807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ822519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000326637   ⟹   ENSP00000322251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,235,387 - 74,544,428 (+)Ensembl
Ensembl Acc Id: ENST00000370889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,439,065 - 74,463,549 (+)Ensembl
Ensembl Acc Id: ENST00000465473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,540,255 - 74,544,428 (+)Ensembl
Ensembl Acc Id: ENST00000497284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,369,020 - 74,369,919 (+)Ensembl
Ensembl Acc Id: ENST00000525480   ⟹   ENSP00000433550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,369,234 - 74,418,346 (+)Ensembl
Ensembl Acc Id: ENST00000526236   ⟹   ENSP00000431465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,369,061 - 74,375,848 (+)Ensembl
Ensembl Acc Id: ENST00000530184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,336,127 - 74,346,174 (+)Ensembl
Ensembl Acc Id: ENST00000534020   ⟹   ENSP00000434975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,369,221 - 74,439,539 (+)Ensembl
RefSeq Acc Id: NM_015978   ⟹   NP_057062
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,235,387 - 74,544,428 (+)NCBI
GRCh37174,701,071 - 75,010,116 (+)ENTREZGENE
Build 36174,473,673 - 74,782,696 (+)NCBI Archive
HuRef172,835,865 - 73,144,630 (+)ENTREZGENE
CHM1_1174,816,721 - 75,125,605 (+)NCBI
T2T-CHM13v2.0174,076,908 - 74,385,812 (+)NCBI
Sequence:
RefSeq Acc Id: NP_057062   ⟸   NM_015978
- UniProtKB: Q6MZS9 (UniProtKB/Swiss-Prot),   Q49AR1 (UniProtKB/Swiss-Prot),   Q17RN0 (UniProtKB/Swiss-Prot),   Q9Y2V6 (UniProtKB/Swiss-Prot),   Q59H18 (UniProtKB/Swiss-Prot),   V9GXZ4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000434975   ⟸   ENST00000534020
Ensembl Acc Id: ENSP00000322251   ⟸   ENST00000326637
Ensembl Acc Id: ENSP00000433550   ⟸   ENST00000525480
Ensembl Acc Id: ENSP00000431465   ⟸   ENST00000526236
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q59H18-F1-model_v2 AlphaFold Q59H18 1-835 view protein structure

Promoters
RGD ID:6855896
Promoter ID:EPDNEW_H1113
Type:initiation region
Name:TNNI3K_2
Description:TNNI3 interacting kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1114  EPDNEW_H1115  EPDNEW_H1116  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,235,387 - 74,235,447EPDNEW
RGD ID:6855898
Promoter ID:EPDNEW_H1114
Type:single initiation site
Name:TNNI3K_4
Description:TNNI3 interacting kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1113  EPDNEW_H1115  EPDNEW_H1116  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,354,138 - 74,354,198EPDNEW
RGD ID:6855900
Promoter ID:EPDNEW_H1115
Type:single initiation site
Name:TNNI3K_3
Description:TNNI3 interacting kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1113  EPDNEW_H1114  EPDNEW_H1116  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,367,038 - 74,367,098EPDNEW
RGD ID:6855942
Promoter ID:EPDNEW_H1116
Type:single initiation site
Name:TNNI3K_1
Description:TNNI3 interacting kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1113  EPDNEW_H1114  EPDNEW_H1115  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,522,428 - 74,522,488EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19661 AgrOrtholog
COSMIC TNNI3K COSMIC
Ensembl Genes ENSG00000116783 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000326637 ENTREZGENE
  ENST00000326637.8 UniProtKB/Swiss-Prot
  ENST00000525480.2 UniProtKB/TrEMBL
  ENST00000526236.5 UniProtKB/TrEMBL
  ENST00000534020.5 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000116783 GTEx
HGNC ID HGNC:19661 ENTREZGENE
Human Proteome Map TNNI3K Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_Kinases-Pseudokinases UniProtKB/TrEMBL
  Ser_Thr_protein_kinase UniProtKB/TrEMBL
KEGG Report hsa:100526835 UniProtKB/Swiss-Prot
  hsa:51086 UniProtKB/Swiss-Prot
NCBI Gene 51086 ENTREZGENE
OMIM 613932 OMIM
PANTHER ANKYRIN REPEAT AND PROTEIN KINASE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
  RECEPTOR-INTERACTING SERINE_THREONINE-PROTEIN KINASE 3 UniProtKB/TrEMBL
  SERINE-THREONINE PROTEIN KINASE UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN KINASE TNNI3K-RELATED UniProtKB/TrEMBL
  SERINE_THREONINE-PROTEIN KINASE TNNI3K UniProtKB/TrEMBL
  SUPPRESSOR_ENHANCER OF LIN-12 UniProtKB/Swiss-Prot
Pfam Ank_2 UniProtKB/Swiss-Prot
  Ank_4 UniProtKB/Swiss-Prot
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134976654 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot
  ANK_REPEAT UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H0YCE9_HUMAN UniProtKB/TrEMBL
  H0YDG1_HUMAN UniProtKB/TrEMBL
  H0YE48_HUMAN UniProtKB/TrEMBL
  Q17RN0 ENTREZGENE
  Q49AR1 ENTREZGENE
  Q59H18 ENTREZGENE
  Q6MZS9 ENTREZGENE
  Q9Y2V6 ENTREZGENE
  TNI3K_HUMAN UniProtKB/Swiss-Prot
  V9GXZ4 ENTREZGENE
UniProt Secondary Q17RN0 UniProtKB/Swiss-Prot
  Q49AR1 UniProtKB/Swiss-Prot
  Q6MZS9 UniProtKB/Swiss-Prot
  Q9Y2V6 UniProtKB/Swiss-Prot