TRPM4 (transient receptor potential cation channel subfamily M member 4) - Rat Genome Database

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Gene: TRPM4 (transient receptor potential cation channel subfamily M member 4) Homo sapiens
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Symbol: TRPM4
Name: transient receptor potential cation channel subfamily M member 4
RGD ID: 1348019
HGNC Page HGNC:17993
Description: Enables calcium ion binding activity; calcium-activated cation channel activity; and identical protein binding activity. Involved in several processes, including positive regulation of canonical Wnt signaling pathway; protein homotetramerization; and regulation of heart contraction. Located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and nucleoplasm. Part of sodium channel complex. Implicated in erythrokeratodermia variabilis et progressiva 6 and progressive familial heart block type IB.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: calcium-activated non-selective cation channel 1; EKVP6; FLJ20041; hTRPM4; long transient receptor potential channel 4; LTrpC-4; LTrpC4; melastatin-4; PFHB1B; transient receptor potential cation channel, subfamily M, member 4; TRPM4B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh381949,157,792 - 49,211,836 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,157,741 - 49,211,836 (+)Ensemblhg38GRCh38
GRCh371949,661,049 - 49,715,093 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,352,864 - 54,406,905 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341954,352,863 - 54,406,903NCBI
Celera1946,527,963 - 46,581,978 (+)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1946,037,071 - 46,092,109 (+)NCBIHuRef
CHM1_11949,662,673 - 49,716,555 (+)NCBICHM1_1
T2T-CHM13v2.01952,152,347 - 52,209,191 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-dithiothreitol  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dimethoxyphenol  (EXP)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-hydroxy-TEMPO  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
9-phenanthrol  (EXP,ISO)
acetylsalicylic acid  (EXP)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
aldosterone  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
ATP  (ISO)
atrazine  (EXP)
Azoxymethane  (ISO)
benzo[a]pyrene  (ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
Bufotalin  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
chlordecone  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
clofibric acid  (ISO)
cyclosporin A  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dichloroacetic acid  (ISO)
Dichloroacetonitrile  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
flufenamic acid  (ISO)
folic acid  (ISO)
furan  (ISO)
furfural  (EXP)
genistein  (ISO)
glyburide  (ISO)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
inulin  (ISO)
ionomycin  (EXP)
ivermectin  (EXP)
L-1,4-dithiothreitol  (EXP)
L-glutamic acid  (EXP,ISO)
L-methionine  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methapyrilene  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
niclosamide  (EXP)
okadaic acid  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenylmercury acetate  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium atom  (ISO)
progesterone  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium atom  (ISO)
sodium chloride  (EXP)
streptozocin  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triphenyl phosphate  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adaptive immune response  (IEA)
calcium ion transmembrane transport  (IEA,TAS)
calcium ion transport  (IEA)
calcium-mediated signaling  (IDA)
cellular response to ATP  (IEA)
dendritic cell chemotaxis  (IEA,ISS)
immune system process  (IEA)
inorganic cation transmembrane transport  (IDA,IEA)
long-term memory  (ISO)
membrane depolarization during AV node cell action potential  (IMP)
membrane depolarization during bundle of His cell action potential  (IMP)
membrane depolarization during Purkinje myocyte cell action potential  (IMP)
metal ion transport  (IBA)
monoatomic cation transmembrane transport  (IBA)
monoatomic ion transmembrane transport  (IEA)
monoatomic ion transport  (IEA)
negative regulation of bone mineralization  (ISO,ISS)
negative regulation of osteoblast differentiation  (ISO,ISS)
positive regulation of adipose tissue development  (ISO,ISS)
positive regulation of atrial cardiac muscle cell action potential  (ISO,ISS)
positive regulation of canonical Wnt signaling pathway  (IDA)
positive regulation of cell population proliferation  (IDA)
positive regulation of cytosolic calcium ion concentration  (ISO,ISS)
positive regulation of fat cell differentiation  (ISO,ISS)
positive regulation of heart rate  (ISO,ISS)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (ISO,ISS)
positive regulation of regulation of vascular associated smooth muscle cell membrane depolarization  (ISO,ISS)
positive regulation of vasoconstriction  (ISO,ISS)
protein homotetramerization  (IDA,IEA)
protein sumoylation  (IDA)
regulation of heart rate by cardiac conduction  (IMP)
regulation of T cell cytokine production  (IDA)
regulation of ventricular cardiac muscle cell action potential  (IMP)
sodium ion import across plasma membrane  (IDA)
transmembrane transport  (IEA)

Cellular Component
endoplasmic reticulum  (IDA,IEA)
Golgi apparatus  (IDA,IEA)
membrane  (IDA,IEA)
neuronal cell body  (ISO,ISS)
nucleoplasm  (IDA)
plasma membrane  (IBA,IDA,IEA,TAS)
sodium channel complex  (IDA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. De novo expression of Trpm4 initiates secondary hemorrhage in spinal cord injury. Gerzanich V, etal., Nat Med. 2009 Feb;15(2):185-91. doi: 10.1038/nm.1899. Epub 2009 Jan 25.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Functional expression of the TRPM4 cationic current in ventricular cardiomyocytes from spontaneously hypertensive rats. Guinamard R, etal., Hypertension. 2006 Oct;48(4):587-94. Epub 2006 Sep 11.
4. Glibenclamide Improves Survival and Neurologic Outcome After Cardiac Arrest in Rats. Huang K, etal., Crit Care Med. 2015 Sep;43(9):e341-9. doi: 10.1097/CCM.0000000000001093.
5. 17ß-estradiol inhibits MMP-9 and SUR1/TrpM4 expression and activation and thereby attenuates BSCB disruption/hemorrhage after spinal cord injury in male rats. Lee JY, etal., Endocrinology. 2015 May;156(5):1838-50. doi: 10.1210/en.2014-1832. Epub 2015 Mar 12.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Inhibition of the Sur1-Trpm4 channel reduces neuroinflammation and cognitive impairment in subarachnoid hemorrhage. Tosun C, etal., Stroke. 2013 Dec;44(12):3522-8. doi: 10.1161/STROKEAHA.113.002904. Epub 2013 Oct 10.
Additional References at PubMed
PMID:11535825   PMID:12015988   PMID:12477932   PMID:12799367   PMID:12842017   PMID:14702039   PMID:14758478   PMID:15121803   PMID:15331675   PMID:15472118   PMID:15550671   PMID:15590641  
PMID:15845551   PMID:16186107   PMID:16344560   PMID:16382100   PMID:16407466   PMID:16424899   PMID:16777713   PMID:16806463   PMID:17217063   PMID:17288552   PMID:18262493   PMID:19063936  
PMID:19726882   PMID:19945433   PMID:20301690   PMID:20562447   PMID:20625999   PMID:20656926   PMID:20884614   PMID:21873635   PMID:21887725   PMID:22810586   PMID:23116477   PMID:23160238  
PMID:23382873   PMID:23796873   PMID:24333049   PMID:24518820   PMID:24866019   PMID:25001294   PMID:25047048   PMID:25192599   PMID:25231975   PMID:25909699   PMID:26071843   PMID:26110647  
PMID:26172285   PMID:26186194   PMID:26496025   PMID:26571400   PMID:26590985   PMID:26791488   PMID:26820365   PMID:27207958   PMID:28248435   PMID:28298427   PMID:28315637   PMID:28494446  
PMID:28514442   PMID:28611215   PMID:28614631   PMID:29211723   PMID:29217581   PMID:29240297   PMID:29463718   PMID:29509190   PMID:30021168   PMID:30142439   PMID:30160201   PMID:30343491  
PMID:30391667   PMID:30482841   PMID:30484364   PMID:30639242   PMID:30789900   PMID:31056421   PMID:31087102   PMID:31358308   PMID:31441200   PMID:31527615   PMID:31837246   PMID:31871319  
PMID:32147520   PMID:32301552   PMID:32320859   PMID:32484822   PMID:32681584   PMID:33047172   PMID:33058873   PMID:33562811   PMID:33845483   PMID:33853758   PMID:33959666   PMID:33961781  
PMID:34079125   PMID:34309670   PMID:34445219   PMID:34897640   PMID:35337019   PMID:35474489   PMID:35681487   PMID:35748872   PMID:36057605   PMID:36871485   PMID:37037835   PMID:37128952  
PMID:37478010   PMID:37511555   PMID:38103473   PMID:38569033   PMID:40437099  


Genomics

Comparative Map Data
TRPM4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,157,792 - 49,211,836 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,157,741 - 49,211,836 (+)Ensemblhg38GRCh38
GRCh371949,661,049 - 49,715,093 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,352,864 - 54,406,905 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341954,352,863 - 54,406,903NCBI
Celera1946,527,963 - 46,581,978 (+)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1946,037,071 - 46,092,109 (+)NCBIHuRef
CHM1_11949,662,673 - 49,716,555 (+)NCBICHM1_1
T2T-CHM13v2.01952,152,347 - 52,209,191 (+)NCBIT2T-CHM13v2.0
Trpm4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39744,952,579 - 44,983,495 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl744,952,056 - 44,983,204 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm38745,303,155 - 45,334,071 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl745,302,632 - 45,333,780 (-)Ensemblmm10GRCm38
MGSCv37752,558,525 - 52,589,150 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36745,170,674 - 45,201,784 (-)NCBIMGSCv36mm8
Celera740,759,067 - 40,790,038 (-)NCBICelera
Cytogenetic Map7B3NCBI
cM Map729.24NCBI
Trpm4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81104,918,462 - 104,949,453 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1104,918,462 - 104,948,653 (-)EnsemblGRCr8
mRatBN7.2195,781,805 - 95,812,095 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl195,782,000 - 95,812,532 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1101,167,413 - 101,197,191 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01109,640,086 - 109,669,864 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01102,930,482 - 102,960,268 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01101,293,300 - 101,323,484 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1101,293,409 - 101,323,960 (-)Ensemblrn6Rnor6.0
Rnor_5.01102,357,043 - 102,387,010 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4195,773,485 - 95,803,542 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera190,039,848 - 90,063,911 (-)NCBICelera
RGSC_v3.1195,851,812 - 95,863,602 (-)NCBI
Cytogenetic Map1q22NCBI
Trpm4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555591,546,365 - 1,581,712 (-)Ensembl
ChiLan1.0NW_0049555591,539,036 - 1,581,800 (-)NCBIChiLan1.0ChiLan1.0
TRPM4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22055,272,183 - 55,328,155 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11957,191,713 - 57,248,153 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01946,168,301 - 46,224,726 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11955,095,029 - 55,150,464 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1955,095,029 - 55,150,464 (+)EnsemblpanPan2panpan1.1
TRPM4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11107,261,760 - 107,304,157 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1107,261,756 - 107,303,346 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1106,849,462 - 106,891,183 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01107,786,342 - 107,828,325 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1107,678,345 - 107,828,249 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11107,454,730 - 107,496,450 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01107,100,989 - 107,142,706 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01107,938,110 - 107,978,274 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Trpm4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934921,474,889 - 21,506,283 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366643,093,367 - 3,124,117 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049366643,093,258 - 3,124,473 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRPM4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl654,342,784 - 54,377,155 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1654,342,774 - 54,377,557 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2649,975,735 - 49,985,615 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TRPM4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1642,379,534 - 42,424,721 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl642,379,659 - 42,424,146 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366607322,272,664 - 22,341,345 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trpm4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248324,902,659 - 4,936,926 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248324,902,335 - 4,937,806 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in TRPM4
1707 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_017636.4(TRPM4):c.635G>A (p.Arg212Gln) single nucleotide variant Cardiovascular phenotype [RCV004023578]|Progressive familial heart block type IB [RCV001857983]|Progressive familial heart block type IB [RCV002497021]|not provided [RCV000519796] Chr19:49168575 [GRCh38]
Chr19:49671832 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1744-1G>A single nucleotide variant Progressive familial heart block type IB [RCV000551480] Chr19:49188640 [GRCh38]
Chr19:49691897 [GRCh37]
Chr19:19q13.33		 uncertain significance
Single allele duplication Progressive familial heart block type IB [RCV000543941] Chr19:49157847..49172128 [GRCh38]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2404C>T (p.Leu802Phe) single nucleotide variant Cardiovascular phenotype [RCV002456011]|Progressive familial heart block type IB [RCV001853655]|not provided [RCV000519269] Chr19:49196633 [GRCh38]
Chr19:49699890 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2335C>A (p.Pro779Thr) single nucleotide variant Progressive familial heart block type IB [RCV005091230]|not provided [RCV000519366] Chr19:49196564 [GRCh38]
Chr19:49699821 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.708_711delinsA (p.Asp236_Asp237delinsGlu) indel not provided [RCV000519636] Chr19:49168648..49168651 [GRCh38]
Chr19:49671905..49671908 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1164G>A (p.Ser388=) single nucleotide variant Cardiovascular phenotype [RCV000621064]|Progressive familial heart block type IB [RCV000559534]|not provided [RCV001584300]|not specified [RCV004586781] Chr19:49181362 [GRCh38]
Chr19:49684619 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.3361C>T (p.Leu1121=) single nucleotide variant Progressive familial heart block type IB [RCV000547297] Chr19:49210742 [GRCh38]
Chr19:49713999 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.566C>T (p.Ala189Val) single nucleotide variant Cardiovascular phenotype [RCV002350153]|Progressive familial heart block type IB [RCV001461189]|not provided [RCV000522197] Chr19:49168377 [GRCh38]
Chr19:49671634 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.3369G>A (p.Thr1123=) single nucleotide variant Cardiovascular phenotype [RCV005298532]|Progressive familial heart block type IB [RCV000557443] Chr19:49210750 [GRCh38]
Chr19:49714007 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter) single nucleotide variant Cardiomyopathy [RCV000852756]|Cardiovascular phenotype [RCV003372759]|Progressive familial heart block type IB [RCV000765457]|not provided [RCV000579014] Chr19:49167935 [GRCh38]
Chr19:49671192 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.2785G>A (p.Asp929Asn) single nucleotide variant Progressive familial heart block type IB [RCV000541796]|Progressive familial heart block type IB [RCV002491065] Chr19:49200617 [GRCh38]
Chr19:49703874 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1390T>G (p.Tyr464Asp) single nucleotide variant Progressive familial heart block type IB [RCV000547999] Chr19:49182704 [GRCh38]
Chr19:49685961 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.19G>A (p.Glu7Lys) single nucleotide variant Progressive familial heart block type IB [RCV000003968]|TRPM4-related disorder [RCV004532279] Chr19:49157885 [GRCh38]
Chr19:49661142 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) single nucleotide variant Brugada syndrome [RCV000208117]|Cardiovascular phenotype [RCV002399335]|Progressive familial heart block type IB [RCV000029158]|Progressive familial heart block, type 1A [RCV000990241]|not provided [RCV001090742]|not specified [RCV004700278] Chr19:49188641 [GRCh38]
Chr19:49691898 [GRCh37]
Chr19:19q13.33		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) single nucleotide variant Brugada syndrome [RCV000208441]|Cardiovascular phenotype [RCV002381261]|Progressive familial heart block type IB [RCV000029159]|Progressive familial heart block, type 1A [RCV000990240]|not provided [RCV001093252]|not specified [RCV004700279] Chr19:49182608 [GRCh38]
Chr19:49685865 [GRCh37]
Chr19:19q13.33		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.490C>T (p.Arg164Trp) single nucleotide variant Cardiovascular phenotype [RCV002345254]|Progressive familial heart block type IB [RCV000029160] Chr19:49168301 [GRCh38]
Chr19:49671558 [GRCh37]
Chr19:19q13.33		 pathogenic|uncertain significance
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) single nucleotide variant Cardiovascular phenotype [RCV000249699]|Progressive familial heart block type IB [RCV000029161]|TRPM4-related disorder [RCV004541017]|not provided [RCV000434894]|not specified [RCV004526600] Chr19:49196760 [GRCh38]
Chr19:49700017 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.2741A>G (p.Lys914Arg) single nucleotide variant Progressive familial heart block type IB [RCV000029162] Chr19:49200395 [GRCh38]
Chr19:49703652 [GRCh37]
Chr19:19q13.33		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_017636.3(TRPM4):c.1180C>T (p.Leu394=) single nucleotide variant Malignant melanoma [RCV000072251] Chr19:49181378 [GRCh38]
Chr19:49684635 [GRCh37]
Chr19:54376447 [NCBI36]
Chr19:19q13.33		 not provided
NM_017636.4(TRPM4):c.3556C>T (p.Leu1186=) single nucleotide variant Progressive familial heart block type IB [RCV003851753] Chr19:49211185 [GRCh38]
Chr19:49714442 [GRCh37]
Chr19:54406254 [NCBI36]
Chr19:19q13.33		 likely benign|not provided
NM_017636.4(TRPM4):c.3031dup (p.Cys1011fs) duplication Cardiovascular phenotype [RCV002438115]|Progressive familial heart block type IB [RCV003102991] Chr19:49202040..49202041 [GRCh38]
Chr19:49705297..49705298 [GRCh37]
Chr19:19q13.33		 pathogenic|uncertain significance
NM_017636.4(TRPM4):c.2546A>C (p.His849Pro) single nucleotide variant Cardiovascular phenotype [RCV004036549]|Progressive familial heart block type IB [RCV001348268] Chr19:49196775 [GRCh38]
Chr19:49700032 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1050+15_1050+16insGCGG insertion none provided [RCV001286046] Chr19:49171782..49171783 [GRCh38]
Chr19:49675039..49675040 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1321G>A (p.Val441Met) single nucleotide variant Progressive familial heart block type IB [RCV003502517]|not provided [RCV000143961] Chr19:49182635 [GRCh38]
Chr19:49685892 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.678C>G (p.Asp226Glu) single nucleotide variant Progressive familial heart block type IB [RCV002498781]|Short QT syndrome [RCV000157547]|not provided [RCV003332127] Chr19:49168618 [GRCh38]
Chr19:49671875 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1082T>G (p.Leu361Arg) single nucleotide variant Cardiovascular phenotype [RCV002415687]|Long QT syndrome [RCV000157548]|Progressive familial heart block type IB [RCV001087683]|not provided [RCV000520454] Chr19:49172040 [GRCh38]
Chr19:49675297 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000852761]|Cardiovascular phenotype [RCV000620360]|Progressive familial heart block type IB [RCV001001338]|TRPM4-related disorder [RCV004535027]|Ventricular fibrillation [RCV000157549]|not provided [RCV001812135]|not specified [RCV000438955] Chr19:49183151 [GRCh38]
Chr19:49686408 [GRCh37]
Chr19:19q13.33		 benign|likely benign|uncertain significance
NM_017636.4(TRPM4):c.712G>A (p.Gly238Ser) single nucleotide variant Cardiovascular phenotype [RCV005298738]|Progressive familial heart block type IB [RCV001223130]|Progressive familial heart block type IB [RCV002480733]|not provided [RCV003153949] Chr19:49168652 [GRCh38]
Chr19:49671909 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.58T>A (p.Cys20Ser) single nucleotide variant Progressive familial heart block type IB [RCV000204919]|not provided [RCV000786236] Chr19:49158225 [GRCh38]
Chr19:49661482 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.783G>A (p.Lys261=) single nucleotide variant Cardiovascular phenotype [RCV000618010]|Progressive familial heart block type IB [RCV000205124]|TRPM4-related disorder [RCV004541298]|not provided [RCV001812211]|not specified [RCV000430985] Chr19:49168723 [GRCh38]
Chr19:49671980 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.322C>T (p.Arg108Cys) single nucleotide variant Cardiovascular phenotype [RCV000620850]|Progressive familial heart block type IB [RCV000205328]|not provided [RCV001812212]|not specified [RCV000427911] Chr19:49167971 [GRCh38]
Chr19:49671228 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.301G>A (p.Ala101Thr) single nucleotide variant Cardiovascular phenotype [RCV000619013]|Progressive familial heart block type IB [RCV000206109]|TRPM4-related disorder [RCV004530243]|not provided [RCV003422113]|not specified [RCV000440103] Chr19:49167950 [GRCh38]
Chr19:49671207 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.306T>G (p.Val102=) single nucleotide variant Cardiovascular phenotype [RCV000621950]|Progressive familial heart block type IB [RCV000204024]|TRPM4-related disorder [RCV004530244]|not provided [RCV003422114]|not specified [RCV000422927] Chr19:49167955 [GRCh38]
Chr19:49671212 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.1069C>T (p.Arg357Trp) single nucleotide variant Cardiac arrest [RCV000208218]|Cardiovascular phenotype [RCV002408907]|Progressive familial heart block type IB [RCV001036120] Chr19:49172027 [GRCh38]
Chr19:49675284 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1826C>G (p.Ala609Gly) single nucleotide variant Cardiovascular phenotype [RCV002408908]|Progressive familial heart block type IB [RCV001853316]|Sudden cardiac death [RCV000208266] Chr19:49188723 [GRCh38]
Chr19:49691980 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg) single nucleotide variant Cardiovascular phenotype [RCV002431644]|Hypertrophic cardiomyopathy [RCV000852762]|Progressive familial heart block type IB [RCV000550136]|TRPM4-related disorder [RCV004538017]|not provided [RCV001811055]|not specified [RCV000604082] Chr19:49190772 [GRCh38]
Chr19:49694029 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_017636.4(TRPM4):c.2619C>T (p.Thr873=) single nucleotide variant Cardiovascular phenotype [RCV000621983]|Progressive familial heart block type IB [RCV000553069]|not provided [RCV004704078]|not specified [RCV000607084] Chr19:49196848 [GRCh38]
Chr19:49700105 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.3512G>A (p.Arg1171His) single nucleotide variant Cardiovascular phenotype [RCV002453752]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV000208482]|Progressive familial heart block type IB [RCV005090040] Chr19:49211065 [GRCh38]
Chr19:49714322 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys) single nucleotide variant Brugada syndrome [RCV003448288]|Cardiovascular phenotype [RCV000617330]|Progressive familial heart block type IB [RCV001082907]|TRPM4-related disorder [RCV004530252]|not provided [RCV000231318]|not specified [RCV000208070] Chr19:49167957 [GRCh38]
Chr19:49671214 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.3337C>G (p.Leu1113Val) single nucleotide variant Conduction system disorder [RCV000208097]|Long QT syndrome [RCV003318369]|Progressive familial heart block type IB [RCV001853317] Chr19:49210718 [GRCh38]
Chr19:49713975 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1637C>T (p.Ser546Leu) single nucleotide variant Progressive familial heart block type IB [RCV000558129] Chr19:49183106 [GRCh38]
Chr19:49686363 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1003A>G (p.Ile335Val) single nucleotide variant Cardiovascular phenotype [RCV002392714]|Progressive familial heart block type IB [RCV000229728]|Progressive familial heart block type IB [RCV005396814] Chr19:49171722 [GRCh38]
Chr19:49674979 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1368C>G (p.Thr456=) single nucleotide variant Cardiovascular phenotype [RCV000620174]|Progressive familial heart block type IB [RCV000999846]|not provided [RCV001722262]|not specified [RCV000420786] Chr19:49182682 [GRCh38]
Chr19:49685939 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) single nucleotide variant Cardiovascular phenotype [RCV002392715]|Progressive familial heart block type IB [RCV000227821]|Sudden cardiac death [RCV000256482]|not provided [RCV001529188]|not specified [RCV000426179] Chr19:49182889 [GRCh38]
Chr19:49686146 [GRCh37]
Chr19:19q13.33		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.449-10G>A single nucleotide variant Progressive familial heart block type IB [RCV000230373]|not provided [RCV001812650]|not specified [RCV000253828] Chr19:49168250 [GRCh38]
Chr19:49671507 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del) deletion Brugada syndrome [RCV000496011]|Cardiomyopathy [RCV000852760]|Cardiovascular phenotype [RCV000620470]|Progressive familial heart block type IB [RCV001001639]|TRPM4-related disorder [RCV004541447]|not provided [RCV001706269]|not specified [RCV003330601] Chr19:49182772..49182807 [GRCh38]
Chr19:49686029..49686064 [GRCh37]
Chr19:19q13.33		 benign|likely benign|uncertain significance
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) single nucleotide variant Cardiomyopathy [RCV000852765]|Cardiovascular phenotype [RCV002436037]|Progressive familial heart block type IB [RCV001084074]|Progressive familial heart block type IB [RCV005396815]|TRPM4-related disorder [RCV000387261]|not provided [RCV000419640] Chr19:49200394 [GRCh38]
Chr19:49703651 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) single nucleotide variant Cardiomyopathy [RCV000852759]|Cardiovascular phenotype [RCV000622072]|Progressive familial heart block type IB [RCV000228055]|not provided [RCV001812651]|not specified [RCV000426184] Chr19:49168695 [GRCh38]
Chr19:49671952 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_017636.4(TRPM4):c.3405A>C (p.Ala1135=) single nucleotide variant Cardiovascular phenotype [RCV000618865]|Progressive familial heart block type IB [RCV000234118]|not provided [RCV001812649]|not specified [RCV000607331] Chr19:49210786 [GRCh38]
Chr19:49714043 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.491G>A (p.Arg164Gln) single nucleotide variant Cardiovascular phenotype [RCV002347910]|Progressive familial heart block type IB [RCV000234283]|not specified [RCV005055782] Chr19:49168302 [GRCh38]
Chr19:49671559 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.448+6C>T single nucleotide variant Progressive familial heart block type IB [RCV000229016]|not specified [RCV000426929] Chr19:49168103 [GRCh38]
Chr19:49671360 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.1380G>C (p.Leu460=) single nucleotide variant Cardiovascular phenotype [RCV002379018]|Progressive familial heart block type IB [RCV000229266]|not provided [RCV001707563] Chr19:49182694 [GRCh38]
Chr19:49685951 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1139C>T (p.Ala380Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000852481]|Cardiovascular phenotype [RCV002325455]|Progressive familial heart block type IB [RCV001045338]|Progressive familial heart block type IB [RCV002485959]|not provided [RCV000756817] Chr19:49172097 [GRCh38]
Chr19:49675354 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.640C>T (p.Arg214Cys) single nucleotide variant Cardiovascular phenotype [RCV003303230]|Progressive familial heart block type IB [RCV001855880]|not provided [RCV000756818] Chr19:49168580 [GRCh38]
Chr19:49671837 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3304T>G (p.Ser1102Ala) single nucleotide variant Cardiovascular phenotype [RCV002325456]|Progressive familial heart block type IB [RCV002061027]|not provided [RCV000756819] Chr19:49210381 [GRCh38]
Chr19:49713638 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.689C>T (p.Ser230Leu) single nucleotide variant Cardiovascular phenotype [RCV002370006]|Progressive familial heart block type IB [RCV001855881]|not provided [RCV000756820] Chr19:49168629 [GRCh38]
Chr19:49671886 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3012T>C (p.Pro1004=) single nucleotide variant Cardiovascular phenotype [RCV000619596]|Progressive familial heart block type IB [RCV001468380]|not specified [RCV000611617] Chr19:49202022 [GRCh38]
Chr19:49705279 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1775C>T (p.Ala592Val) single nucleotide variant Cardiovascular phenotype [RCV000621401]|Progressive familial heart block type IB [RCV003609164] Chr19:49188672 [GRCh38]
Chr19:49691929 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.247dup (p.Ala83fs) duplication Cardiovascular phenotype [RCV000622127]|Progressive familial heart block type IB [RCV001314383]|not provided [RCV002223881] Chr19:49166190..49166191 [GRCh38]
Chr19:49669447..49669448 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1004T>C (p.Ile335Thr) single nucleotide variant Sudden unexplained death [RCV000999573] Chr19:49171723 [GRCh38]
Chr19:49674980 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2908C>T (p.Pro970Ser) single nucleotide variant Inborn genetic diseases [RCV000622560]|Progressive familial heart block type IB [RCV000807633] Chr19:49200740 [GRCh38]
Chr19:49703997 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3023C>T (p.Ala1008Val) single nucleotide variant Cardiovascular phenotype [RCV004992301]|Progressive familial heart block type IB [RCV000532288]|not provided [RCV000522257] Chr19:49202033 [GRCh38]
Chr19:49705290 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.-12G>A single nucleotide variant Progressive familial heart block type IB [RCV000395241]|not provided [RCV004717123]|not specified [RCV000251128] Chr19:49157855 [GRCh38]
Chr19:49661112 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.597C>T (p.Thr199=) single nucleotide variant Cardiovascular phenotype [RCV000243952] Chr19:49168408 [GRCh38]
Chr19:49671665 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1119C>A (p.Phe373Leu) single nucleotide variant Cardiovascular phenotype [RCV000244645]|Progressive familial heart block type IB [RCV001078623]|not provided [RCV000485512] Chr19:49172077 [GRCh38]
Chr19:49675334 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.2934T>C (p.Ile978=) single nucleotide variant Cardiovascular phenotype [RCV000242456]|Progressive familial heart block type IB [RCV000456969]|not provided [RCV004703567]|not specified [RCV000428549] Chr19:49200766 [GRCh38]
Chr19:49704023 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.1323G>T (p.Val441=) single nucleotide variant Cardiovascular phenotype [RCV000250397]|Progressive familial heart block type IB [RCV002059036]|not provided [RCV001753736] Chr19:49182637 [GRCh38]
Chr19:49685894 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.618G>A (p.Ser206=) single nucleotide variant Cardiovascular phenotype [RCV000243339]|Progressive familial heart block type IB [RCV000466483]|TRPM4-related disorder [RCV004535227]|not provided [RCV004703568]|not specified [RCV000442308] Chr19:49168558 [GRCh38]
Chr19:49671815 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=) single nucleotide variant Cardiovascular phenotype [RCV000619277]|Progressive familial heart block type IB [RCV000460158]|not provided [RCV001723917]|not specified [RCV000431716] Chr19:49202092 [GRCh38]
Chr19:49705349 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.375G>A (p.Ser125=) single nucleotide variant Cardiovascular phenotype [RCV000617239]|Progressive familial heart block type IB [RCV000268233]|not provided [RCV004717300]|not specified [RCV000438450] Chr19:49168024 [GRCh38]
Chr19:49671281 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.267+14C>G single nucleotide variant Progressive familial heart block type IB [RCV000269548]|not provided [RCV001812865]|not specified [RCV000432567] Chr19:49166229 [GRCh38]
Chr19:49669486 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.2954-11T>C single nucleotide variant Progressive familial heart block type IB [RCV000289362]|not provided [RCV001547231] Chr19:49201953 [GRCh38]
Chr19:49705210 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.2779-5C>T single nucleotide variant Cardiovascular phenotype [RCV000618564]|Progressive familial heart block type IB [RCV000290649]|not specified [RCV000606695] Chr19:49200606 [GRCh38]
Chr19:49703863 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.1041G>T (p.Leu347=) single nucleotide variant Cardiovascular phenotype [RCV000619015]|Progressive familial heart block type IB [RCV000293611]|not provided [RCV004717301]|not specified [RCV000421232] Chr19:49171760 [GRCh38]
Chr19:49675017 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.483C>T (p.Gly161=) single nucleotide variant Cardiovascular phenotype [RCV002328849]|Progressive familial heart block type IB [RCV000645465] Chr19:49168294 [GRCh38]
Chr19:49671551 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.250G>A (p.Gly84Ser) single nucleotide variant Cardiovascular phenotype [RCV002450894]|Progressive familial heart block type IB [RCV000309544] Chr19:49166198 [GRCh38]
Chr19:49669455 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.*119C>T single nucleotide variant Progressive familial heart block type IB [RCV000353933]|not provided [RCV004694443] Chr19:49211617 [GRCh38]
Chr19:49714874 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.136G>T (p.Ala46Ser) single nucleotide variant Progressive familial heart block type IB [RCV000366846] Chr19:49166084 [GRCh38]
Chr19:49669341 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1242T>C (p.Phe414=) single nucleotide variant Cardiovascular phenotype [RCV002379217]|Progressive familial heart block type IB [RCV000467270]|not provided [RCV001697672]|not specified [RCV000607635] Chr19:49181440 [GRCh38]
Chr19:49684697 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.92+12G>A single nucleotide variant Progressive familial heart block type IB [RCV000314484]|not specified [RCV000602795] Chr19:49158271 [GRCh38]
Chr19:49661528 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.*81G>T single nucleotide variant Progressive familial heart block type IB [RCV000397602] Chr19:49211579 [GRCh38]
Chr19:49714836 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2536G>T (p.Gly846Trp) single nucleotide variant Cardiovascular phenotype [RCV000618658]|Progressive familial heart block type IB [RCV000277661] Chr19:49196765 [GRCh38]
Chr19:49700022 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2210+11C>G single nucleotide variant Progressive familial heart block type IB [RCV000318350]|not provided [RCV004717302]|not specified [RCV000417860] Chr19:49190784 [GRCh38]
Chr19:49694041 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.748C>T (p.Arg250Cys) single nucleotide variant Cardiovascular phenotype [RCV002392886]|Progressive familial heart block type IB [RCV000866194]|not provided [RCV001532389] Chr19:49168688 [GRCh38]
Chr19:49671945 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.956_958del (p.Leu319_Ala320delinsPro) deletion Cardiovascular phenotype [RCV002379215]|Progressive familial heart block [RCV000352126]|Progressive familial heart block type IB [RCV002057521]|not specified [RCV005055891] Chr19:49171675..49171677 [GRCh38]
Chr19:49674932..49674934 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys) single nucleotide variant Cardiovascular phenotype [RCV002379216]|Progressive familial heart block type IB [RCV000864968]|TRPM4-related disorder [RCV004544598]|not provided [RCV001705496]|not specified [RCV000431456] Chr19:49171707 [GRCh38]
Chr19:49674964 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.3024G>A (p.Ala1008=) single nucleotide variant Cardiovascular phenotype [RCV000618414]|Progressive familial heart block type IB [RCV000461229]|not provided [RCV004717305]|not specified [RCV000435564] Chr19:49202034 [GRCh38]
Chr19:49705291 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys) single nucleotide variant Cardiovascular phenotype [RCV002429294]|Progressive familial heart block type IB [RCV000469849]|not provided [RCV001561513] Chr19:49200328 [GRCh38]
Chr19:49703585 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.2380C>T (p.Leu794=) single nucleotide variant Cardiovascular phenotype [RCV000617920]|Progressive familial heart block type IB [RCV000387953]|not provided [RCV004717303]|not specified [RCV000427152] Chr19:49196609 [GRCh38]
Chr19:49699866 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.2229G>A (p.Glu743=) single nucleotide variant Progressive familial heart block type IB [RCV000356793] Chr19:49196458 [GRCh38]
Chr19:49699715 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_017636.3(TRPM4):c.-107G>T single nucleotide variant Progressive familial heart block [RCV000336563]|not provided [RCV002263047] Chr19:49157760 [GRCh38]
Chr19:49661017 [GRCh37]
Chr19:19q13.33		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.1532T>A (p.Leu511Gln) single nucleotide variant Cardiovascular phenotype [RCV002402049]|Progressive familial heart block type IB [RCV000687706]|Progressive familial heart block type IB [RCV002487456] Chr19:49182846 [GRCh38]
Chr19:49686103 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2085C>T (p.Leu695=) single nucleotide variant Cardiovascular phenotype [RCV002418193]|Progressive familial heart block type IB [RCV000357569]|not provided [RCV001697823] Chr19:49190273 [GRCh38]
Chr19:49693530 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.2231A>T (p.Lys744Met) single nucleotide variant Cardiovascular phenotype [RCV004992177]|Progressive familial heart block type IB [RCV000645470]|TRPM4-related disorder [RCV004537835]|not specified [RCV005238913] Chr19:49196460 [GRCh38]
Chr19:49699717 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.*12G>A single nucleotide variant Progressive familial heart block type IB [RCV000340959] Chr19:49211510 [GRCh38]
Chr19:49714767 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.243G>A (p.Thr81=) single nucleotide variant Cardiovascular phenotype [RCV002450893]|Progressive familial heart block type IB [RCV000395249] Chr19:49166191 [GRCh38]
Chr19:49669448 [GRCh37]
Chr19:19q13.33		 benign|likely benign|uncertain significance
NM_017636.4(TRPM4):c.2982G>A (p.Ser994=) single nucleotide variant Cardiovascular phenotype [RCV000617912]|Progressive familial heart block type IB [RCV000460396]|not provided [RCV004717304]|not specified [RCV000421049] Chr19:49201992 [GRCh38]
Chr19:49705249 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.2133-9C>G single nucleotide variant Progressive familial heart block type IB [RCV000265621]|not specified [RCV000616586] Chr19:49190687 [GRCh38]
Chr19:49693944 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.*84C>T single nucleotide variant Progressive familial heart block type IB [RCV000301447] Chr19:49211582 [GRCh38]
Chr19:49714839 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1473A>G (p.Leu491=) single nucleotide variant Cardiovascular phenotype [RCV002392887]|Progressive familial heart block type IB [RCV000363825]|TRPM4-related disorder [RCV004544599] Chr19:49182787 [GRCh38]
Chr19:49686044 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.1817C>G (p.Ala606Gly) single nucleotide variant Cardiovascular phenotype [RCV003168491]|Progressive familial heart block type IB [RCV000305085]|Progressive familial heart block type IB [RCV002480170] Chr19:49188714 [GRCh38]
Chr19:49691971 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2987_3014del (p.Glu996fs) deletion Cardiovascular phenotype [RCV002433921]|Progressive familial heart block type IB [RCV000490487]|not provided [RCV000870012] Chr19:49201995..49202022 [GRCh38]
Chr19:49705252..49705279 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.1050+13_1050+16dup duplication Progressive familial heart block [RCV000346248]|Progressive familial heart block type IB [RCV002057522]|not provided [RCV001613068]|not specified [RCV001700062] Chr19:49171781..49171782 [GRCh38]
Chr19:49675038..49675039 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.2358C>T (p.Asn786=) single nucleotide variant Progressive familial heart block type IB [RCV000317075] Chr19:49196587 [GRCh38]
Chr19:49699844 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.2790G>A (p.Val930=) single nucleotide variant Progressive familial heart block type IB [RCV000347645] Chr19:49200622 [GRCh38]
Chr19:49703879 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.251G>T (p.Gly84Val) single nucleotide variant Progressive familial heart block type IB [RCV000366511] Chr19:49166199 [GRCh38]
Chr19:49669456 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.721G>A (p.Gly241Ser) single nucleotide variant Cardiovascular phenotype [RCV002374561]|Progressive familial heart block type IB [RCV000818243]|not provided [RCV004591122] Chr19:49168661 [GRCh38]
Chr19:49671918 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.49154455ATC[13] microsatellite Progressive familial heart block [RCV000397811] Chr19:49154454..49154456 [GRCh38]
Chr19:49657711..49657713 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1150+1G>A single nucleotide variant Cardiovascular phenotype [RCV003302965]|Progressive familial heart block type IB [RCV000625948]|Progressive familial heart block type IB [RCV002499017]|not provided [RCV000728368] Chr19:49172109 [GRCh38]
Chr19:49675366 [GRCh37]
Chr19:19q13.33		 likely pathogenic|uncertain significance
NM_017636.4(TRPM4):c.291G>A (p.Thr97=) single nucleotide variant Progressive familial heart block type IB [RCV001036936] Chr19:49167940 [GRCh38]
Chr19:49671197 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.1311dup (p.Pro438fs) duplication Cardiovascular phenotype [RCV000621491]|Progressive familial heart block type IB [RCV001860372]|not provided [RCV004696956] Chr19:49182623..49182624 [GRCh38]
Chr19:49685880..49685881 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.12G>A (p.Pro4=) single nucleotide variant Cardiovascular phenotype [RCV002384333]|Progressive familial heart block type IB [RCV002063320]|not specified [RCV000601024] Chr19:49157878 [GRCh38]
Chr19:49661135 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.582C>A (p.Val194=) single nucleotide variant Cardiovascular phenotype [RCV000617205]|Progressive familial heart block type IB [RCV002491315]|Progressive familial heart block type IB [RCV005091759] Chr19:49168393 [GRCh38]
Chr19:49671650 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2978G>T (p.Cys993Phe) single nucleotide variant Cardiovascular phenotype [RCV000617514]|not provided [RCV004767440] Chr19:49201988 [GRCh38]
Chr19:49705245 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.342C>G (p.Ala114=) single nucleotide variant Cardiovascular phenotype [RCV000617585]|Progressive familial heart block type IB [RCV001514200]|not provided [RCV001698081]|not specified [RCV005418246] Chr19:49167991 [GRCh38]
Chr19:49671248 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.2479G>A (p.Glu827Lys) single nucleotide variant Cardiovascular phenotype [RCV002448580]|Progressive familial heart block type IB [RCV001342045]|not provided [RCV000521218] Chr19:49196708 [GRCh38]
Chr19:49699965 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2228AGA[1] (p.Lys744del) microsatellite not provided [RCV000599231] Chr19:49196457..49196459 [GRCh38]
Chr19:49699714..49699716 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2508C>T (p.Gly836=) single nucleotide variant Cardiovascular phenotype [RCV002456020]|Progressive familial heart block type IB [RCV001853688]|not provided [RCV000521696] Chr19:49196737 [GRCh38]
Chr19:49699994 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1971G>A (p.Leu657=) single nucleotide variant not specified [RCV000604843] Chr19:49189043 [GRCh38]
Chr19:49692300 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.246G>T (p.Gly82=) single nucleotide variant Cardiovascular phenotype [RCV002454253]|Progressive familial heart block type IB [RCV001001283] Chr19:49166194 [GRCh38]
Chr19:49669451 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.169G>C (p.Val57Leu) single nucleotide variant Progressive familial heart block type IB [RCV001002622] Chr19:49166117 [GRCh38]
Chr19:49669374 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2520C>A (p.Leu840=) single nucleotide variant Progressive familial heart block type IB [RCV000528411] Chr19:49196749 [GRCh38]
Chr19:49700006 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1645T>A (p.Ser549Thr) single nucleotide variant Progressive familial heart block type IB [RCV000536729] Chr19:49183114 [GRCh38]
Chr19:49686371 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1376G>A (p.Arg459His) single nucleotide variant Cardiovascular phenotype [RCV002384174]|Progressive familial heart block type IB [RCV000538128]|TRPM4-related disorder [RCV004541720]|not provided [RCV003317271]|not specified [RCV005404678] Chr19:49182690 [GRCh38]
Chr19:49685947 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2426C>T (p.Pro809Leu) single nucleotide variant not specified [RCV000413578] Chr19:49196655 [GRCh38]
Chr19:49699912 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2778+11G>T single nucleotide variant not specified [RCV000413748] Chr19:49200443 [GRCh38]
Chr19:49703700 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter) single nucleotide variant Cardiovascular phenotype [RCV000618995]|Progressive familial heart block type IB [RCV000645473]|TRPM4-related disorder [RCV004544727]|not provided [RCV003422382]|not specified [RCV000414033] Chr19:49196483 [GRCh38]
Chr19:49699740 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.2891G>A (p.Arg964His) single nucleotide variant Progressive familial heart block type IB [RCV000553986]|not provided [RCV000523573] Chr19:49200723 [GRCh38]
Chr19:49703980 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.24+6C>G single nucleotide variant Progressive familial heart block type IB [RCV000645460]|not provided [RCV001700114] Chr19:49157896 [GRCh38]
Chr19:49661153 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3641-19C>G single nucleotide variant Progressive familial heart block type IB [RCV002062406]|Progressive familial heart block type IB [RCV002481306]|not provided [RCV001723992]|not specified [RCV000434333] Chr19:49211475 [GRCh38]
Chr19:49714732 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.1873+13C>G single nucleotide variant Progressive familial heart block type IB [RCV001128901]|not specified [RCV000444967] Chr19:49188783 [GRCh38]
Chr19:49692040 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.1803C>G (p.Arg601=) single nucleotide variant Cardiovascular phenotype [RCV004022450]|Progressive familial heart block type IB [RCV002522528]|not specified [RCV000423923] Chr19:49188700 [GRCh38]
Chr19:49691957 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2912A>G (p.Tyr971Cys) single nucleotide variant Cardiovascular phenotype [RCV002436362]|Progressive familial heart block type IB [RCV001851097]|Progressive familial heart block type IB [RCV002481348]|not provided [RCV000417826] Chr19:49200744 [GRCh38]
Chr19:49704001 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3329-13C>T single nucleotide variant Progressive familial heart block type IB [RCV002060003]|not provided [RCV001721423] Chr19:49210697 [GRCh38]
Chr19:49713954 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3641-17T>G single nucleotide variant Progressive familial heart block type IB [RCV002059936]|not provided [RCV001810938]|not specified [RCV000428158] Chr19:49211477 [GRCh38]
Chr19:49714734 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg) single nucleotide variant Cardiovascular phenotype [RCV002429383]|Long QT syndrome [RCV003318376]|Progressive familial heart block type IB [RCV000538303]|TRPM4-related disorder [RCV004533001]|not provided [RCV001703669]|not specified [RCV003488591] Chr19:49196790 [GRCh38]
Chr19:49700047 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) single nucleotide variant Cardiovascular phenotype [RCV000617186]|Conduction disorder of the heart [RCV001256813]|Family history of sudden cardiac death [RCV000852766]|Progressive familial heart block type IB [RCV000476994]|not provided [RCV001810920]|not specified [RCV000435459] Chr19:49211240 [GRCh38]
Chr19:49714497 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_017636.4(TRPM4):c.3450C>T (p.Arg1150=) single nucleotide variant Cardiovascular phenotype [RCV000618280]|Progressive familial heart block type IB [RCV001312760]|TRPM4-related disorder [RCV004732882]|not provided [RCV000438995] Chr19:49210831 [GRCh38]
Chr19:49714088 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.25-10C>T single nucleotide variant Progressive familial heart block type IB [RCV000864661]|not provided [RCV001704534] Chr19:49158182 [GRCh38]
Chr19:49661439 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1151-20T>A single nucleotide variant Progressive familial heart block type IB [RCV002064971]|not specified [RCV000443691] Chr19:49181329 [GRCh38]
Chr19:49684586 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.23A>T (p.Gln8Leu) single nucleotide variant Progressive familial heart block type IB [RCV002506057]|not provided [RCV000440150] Chr19:49157889 [GRCh38]
Chr19:49661146 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1215C>T (p.Arg405=) single nucleotide variant Cardiovascular phenotype [RCV002356609]|Progressive familial heart block type IB [RCV001423723]|not specified [RCV000429896] Chr19:49181413 [GRCh38]
Chr19:49684670 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.870C>T (p.Asn290=) single nucleotide variant Cardiovascular phenotype [RCV000617666]|Progressive familial heart block type IB [RCV001000470]|not provided [RCV001721279]|not specified [RCV000436808] Chr19:49171589 [GRCh38]
Chr19:49674846 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_017636.4(TRPM4):c.1150+15C>G single nucleotide variant Progressive familial heart block type IB [RCV002063526]|not provided [RCV001698375] Chr19:49172123 [GRCh38]
Chr19:49675380 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.2020-8C>T single nucleotide variant Progressive familial heart block type IB [RCV002064973]|not specified [RCV000437308] Chr19:49190200 [GRCh38]
Chr19:49693457 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.33(chr19:49640430-49703840)x3 copy number gain See cases [RCV000448232] Chr19:49640430..49703840 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.269TCC[1] (p.Leu91del) microsatellite Progressive familial heart block type IB [RCV000463052] Chr19:49167918..49167920 [GRCh38]
Chr19:49671175..49671177 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.3563G>T (p.Trp1188Leu) single nucleotide variant Cardiovascular phenotype [RCV002341151]|Progressive familial heart block type IB [RCV001040353]|Progressive familial heart block type IB [RCV002481538]|not provided [RCV000483627] Chr19:49211192 [GRCh38]
Chr19:49714449 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.923C>T (p.Ala308Val) single nucleotide variant Brugada syndrome [RCV000523091]|Cardiovascular phenotype [RCV002374785]|Progressive familial heart block type IB [RCV000470793]|not provided [RCV001753892] Chr19:49171642 [GRCh38]
Chr19:49674899 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2863C>T (p.Arg955Trp) single nucleotide variant Cardiovascular phenotype [RCV004022730]|Progressive familial heart block type IB [RCV000463974] Chr19:49200695 [GRCh38]
Chr19:49703952 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3315C>A (p.Ala1105=) single nucleotide variant Cardiovascular phenotype [RCV002323799]|Progressive familial heart block type IB [RCV000466231]|not specified [RCV000601876] Chr19:49210392 [GRCh38]
Chr19:49713649 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3367A>C (p.Thr1123Pro) single nucleotide variant Cardiovascular phenotype [RCV002451115]|Progressive familial heart block type IB [RCV000467378]|not provided [RCV005054196] Chr19:49210748 [GRCh38]
Chr19:49714005 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.249C>T (p.Ala83=) single nucleotide variant Cardiovascular phenotype [RCV000618066]|Progressive familial heart block type IB [RCV001087968]|not provided [RCV000835832]|not specified [RCV004701522] Chr19:49166197 [GRCh38]
Chr19:49669454 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.379G>A (p.Gly127Ser) single nucleotide variant Progressive familial heart block type IB [RCV000477849] Chr19:49168028 [GRCh38]
Chr19:49671285 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.354G>C (p.Val118=) single nucleotide variant Cardiovascular phenotype [RCV002455881]|Progressive familial heart block type IB [RCV000456719]|not provided [RCV001565738]|not specified [RCV005056041] Chr19:49168003 [GRCh38]
Chr19:49671260 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.1552A>G (p.Arg518Gly) single nucleotide variant Cardiovascular phenotype [RCV003298491]|Progressive familial heart block type IB [RCV000468283] Chr19:49182866 [GRCh38]
Chr19:49686123 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1]) deletion Cardiovascular phenotype [RCV000621486]|Progressive familial heart block type IB [RCV000468287]|Restrictive cardiomyopathy [RCV000852764]|not provided [RCV001653851]|not specified [RCV000623427] Chr19:49196502..49196513 [GRCh38]
Chr19:49699759..49699770 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.2638G>A (p.Gly880Ser) single nucleotide variant Cardiovascular phenotype [RCV002429514]|Progressive familial heart block type IB [RCV000457178]|Progressive familial heart block type IB [RCV002496774] Chr19:49196867 [GRCh38]
Chr19:49700124 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3427A>G (p.Ser1143Gly) single nucleotide variant Cardiovascular phenotype [RCV000620172]|Progressive familial heart block type IB [RCV000465359]|not provided [RCV001707705] Chr19:49210808 [GRCh38]
Chr19:49714065 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.2665del (p.His889fs) deletion Cardiovascular phenotype [RCV002455933]|Long QT syndrome [RCV003318377]|Progressive familial heart block type IB [RCV000645471]|Progressive familial heart block type IB [RCV002489168]|not provided [RCV000486592] Chr19:49200318 [GRCh38]
Chr19:49703575 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1371G>A (p.Pro457=) single nucleotide variant Progressive familial heart block type IB [RCV001450605] Chr19:49182685 [GRCh38]
Chr19:49685942 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3419A>G (p.Lys1140Arg) single nucleotide variant Progressive familial heart block type IB [RCV000476882] Chr19:49210800 [GRCh38]
Chr19:49714057 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1453G>A (p.Gly485Ser) single nucleotide variant Cardiovascular phenotype [RCV002393132]|Progressive familial heart block type IB [RCV000462175] Chr19:49182767 [GRCh38]
Chr19:49686024 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3489A>G (p.Gly1163=) single nucleotide variant Cardiovascular phenotype [RCV003372724]|Progressive familial heart block type IB [RCV000473162] Chr19:49211042 [GRCh38]
Chr19:49714299 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity
NM_017636.4(TRPM4):c.623del (p.Pro208fs) deletion Cardiovascular phenotype [RCV002367660]|Progressive familial heart block type IB [RCV001342881]|not provided [RCV000487104] Chr19:49168561 [GRCh38]
Chr19:49671818 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2534C>T (p.Pro845Leu) single nucleotide variant Cardiovascular phenotype [RCV002451116]|Progressive familial heart block type IB [RCV001460760]|not provided [RCV000458803] Chr19:49196763 [GRCh38]
Chr19:49700020 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3073G>A (p.Val1025Ile) single nucleotide variant Cardiovascular phenotype [RCV002319503]|Progressive familial heart block type IB [RCV000477508]|not specified [RCV000604033] Chr19:49202083 [GRCh38]
Chr19:49705340 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1603G>A (p.Glu535Lys) single nucleotide variant Cardiovascular phenotype [RCV002404287]|Hypertrophic cardiomyopathy [RCV000497912]|Progressive familial heart block type IB [RCV001851329]|not provided [RCV004760531] Chr19:49182917 [GRCh38]
Chr19:49686174 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.739A>T (p.Asn247Tyr) single nucleotide variant Hypertrophic cardiomyopathy [RCV000498985] Chr19:49168679 [GRCh38]
Chr19:49671936 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.371dup (p.Ser125fs) duplication Progressive familial heart block type IB [RCV000496992]|not provided [RCV002223217] Chr19:49168014..49168015 [GRCh38]
Chr19:49671271..49671272 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1599C>G (p.Phe533Leu) single nucleotide variant not provided [RCV000493886] Chr19:49182913 [GRCh38]
Chr19:49686170 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1690C>T (p.Leu564Phe) single nucleotide variant Brugada syndrome [RCV000578094]|Cardiovascular phenotype [RCV004992360] Chr19:49183159 [GRCh38]
Chr19:49686416 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2053G>A (p.Ala685Thr) single nucleotide variant Cardiovascular phenotype [RCV002420260]|not provided [RCV000494062] Chr19:49190241 [GRCh38]
Chr19:49693498 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.415C>T (p.Arg139Cys) single nucleotide variant Cardiovascular phenotype [RCV002327481]|Progressive familial heart block type IB [RCV001209819] Chr19:49168064 [GRCh38]
Chr19:49671321 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.93-18C>T single nucleotide variant Progressive familial heart block type IB [RCV002060620]|not specified [RCV000607209] Chr19:49166023 [GRCh38]
Chr19:49669280 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.449-14C>T single nucleotide variant Progressive familial heart block type IB [RCV001128796]|not provided [RCV003736840]|not specified [RCV000603527] Chr19:49168246 [GRCh38]
Chr19:49671503 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.657C>T (p.Asp219=) single nucleotide variant Cardiovascular phenotype [RCV002377112]|Progressive familial heart block type IB [RCV000545677]|not provided [RCV001571103] Chr19:49168597 [GRCh38]
Chr19:49671854 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_017636.4(TRPM4):c.2129T>G (p.Phe710Cys) single nucleotide variant Cardiovascular phenotype [RCV002422337]|Progressive familial heart block type IB [RCV000645462] Chr19:49190317 [GRCh38]
Chr19:49693574 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1726A>G (p.Met576Val) single nucleotide variant Progressive familial heart block type IB [RCV000645463]|not provided [RCV000786240] Chr19:49183195 [GRCh38]
Chr19:49686452 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1475A>G (p.Lys492Arg) single nucleotide variant Progressive familial heart block type IB [RCV000645464] Chr19:49182789 [GRCh38]
Chr19:49686046 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2214G>A (p.Thr738=) single nucleotide variant Cardiovascular phenotype [RCV002424475]|Progressive familial heart block type IB [RCV000645468]|not provided [RCV000786237] Chr19:49196443 [GRCh38]
Chr19:49699700 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.556A>G (p.Met186Val) single nucleotide variant Progressive familial heart block type IB [RCV000530929] Chr19:49168367 [GRCh38]
Chr19:49671624 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.267+10G>A single nucleotide variant Progressive familial heart block type IB [RCV000531651] Chr19:49166225 [GRCh38]
Chr19:49669482 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2259G>T (p.Ser753=) single nucleotide variant Cardiovascular phenotype [RCV003301666]|Progressive familial heart block type IB [RCV003609277] Chr19:49196488 [GRCh38]
Chr19:49699745 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1919G>A (p.Arg640His) single nucleotide variant Cardiovascular phenotype [RCV003301667] Chr19:49188991 [GRCh38]
Chr19:49692248 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.18G>C (p.Lys6Asn) single nucleotide variant Cardiovascular phenotype [RCV003301670] Chr19:49157884 [GRCh38]
Chr19:49661141 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2634C>T (p.Gly878=) single nucleotide variant Cardiovascular phenotype [RCV003301671] Chr19:49196863 [GRCh38]
Chr19:49700120 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.332G>A (p.Gly111Asp) single nucleotide variant Cardiovascular phenotype [RCV003301672] Chr19:49167981 [GRCh38]
Chr19:49671238 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NC_000019.10:g.(?_49166021)_(49172128_?)del deletion Progressive familial heart block type IB [RCV000558874] Chr19:49166021..49172128 [GRCh38]
Chr19:49669278..49675385 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1332C>T (p.Leu444=) single nucleotide variant Progressive familial heart block type IB [RCV005091611]|not specified [RCV000600525] Chr19:49182646 [GRCh38]
Chr19:49685903 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1951G>A (p.Asp651Asn) single nucleotide variant Progressive familial heart block type IB [RCV000539656] Chr19:49189023 [GRCh38]
Chr19:49692280 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3329-4G>A single nucleotide variant not specified [RCV000601146] Chr19:49210706 [GRCh38]
Chr19:49713963 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.24+7G>A single nucleotide variant Progressive familial heart block type IB [RCV001412990]|not specified [RCV000606598] Chr19:49157897 [GRCh38]
Chr19:49661154 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.829C>T (p.Leu277=) single nucleotide variant not specified [RCV000601245] Chr19:49171389 [GRCh38]
Chr19:49674646 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3199C>T (p.Arg1067Trp) single nucleotide variant Cardiovascular phenotype [RCV003305542] Chr19:49210276 [GRCh38]
Chr19:49713533 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_017636.4(TRPM4):c.1636T>C (p.Ser546Pro) single nucleotide variant Cardiovascular phenotype [RCV003301657] Chr19:49183105 [GRCh38]
Chr19:49686362 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2953+1G>A single nucleotide variant Cardiovascular phenotype [RCV003301658]|Progressive familial heart block type IB [RCV003502719] Chr19:49200786 [GRCh38]
Chr19:49704043 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2817G>A (p.Val939=) single nucleotide variant Cardiovascular phenotype [RCV003301660] Chr19:49200649 [GRCh38]
Chr19:49703906 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.830T>C (p.Leu277Pro) single nucleotide variant Cardiovascular phenotype [RCV003301673] Chr19:49171390 [GRCh38]
Chr19:49674647 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.344C>T (p.Pro115Leu) single nucleotide variant Cardiovascular phenotype [RCV004299406]|not provided [RCV004794633] Chr19:49167993 [GRCh38]
Chr19:49671250 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2527G>C (p.Gly843Arg) single nucleotide variant Cardiovascular phenotype [RCV002456365]|Progressive familial heart block type IB [RCV003609162]|not provided [RCV001697958] Chr19:49196756 [GRCh38]
Chr19:49700013 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2208C>T (p.Val736=) single nucleotide variant Cardiovascular phenotype [RCV002431772]|Progressive familial heart block type IB [RCV001491400]|not specified [RCV000609724] Chr19:49190771 [GRCh38]
Chr19:49694028 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.168C>T (p.Ala56=) single nucleotide variant Cardiovascular phenotype [RCV004024914]|Progressive familial heart block type IB [RCV001515768]|not provided [RCV005427139]|not specified [RCV000612377] Chr19:49166116 [GRCh38]
Chr19:49669373 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.92+12G>C single nucleotide variant Progressive familial heart block type IB [RCV003502539]|not specified [RCV000615314] Chr19:49158271 [GRCh38]
Chr19:49661528 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2646-17A>T single nucleotide variant Progressive familial heart block type IB [RCV002062176]|not provided [RCV004717683]|not specified [RCV000601784] Chr19:49200283 [GRCh38]
Chr19:49703540 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.984A>G (p.Gln328=) single nucleotide variant not specified [RCV000612936] Chr19:49171703 [GRCh38]
Chr19:49674960 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2953+15G>A single nucleotide variant Progressive familial heart block type IB [RCV001129016]|not provided [RCV004704105]|not specified [RCV000612956] Chr19:49200800 [GRCh38]
Chr19:49704057 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.3449G>T (p.Arg1150Leu) single nucleotide variant Cardiovascular phenotype [RCV000619108]|Progressive familial heart block type IB [RCV002491310]|Progressive familial heart block type IB [RCV002531740] Chr19:49210830 [GRCh38]
Chr19:49714087 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2020-4A>C single nucleotide variant Cardiovascular phenotype [RCV002420643]|Progressive familial heart block type IB [RCV001131572]|not provided [RCV001698476]|not specified [RCV000607497] Chr19:49190204 [GRCh38]
Chr19:49693461 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.2374C>A (p.Leu792Met) single nucleotide variant Cardiovascular phenotype [RCV003296105] Chr19:49196603 [GRCh38]
Chr19:49699860 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.796+16C>G single nucleotide variant Progressive familial heart block type IB [RCV002062912]|not specified [RCV000613374] Chr19:49168752 [GRCh38]
Chr19:49672009 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1756G>C (p.Val586Leu) single nucleotide variant Cardiovascular phenotype [RCV002404489]|Progressive familial heart block type IB [RCV000524939]|Progressive familial heart block type IB [RCV002491064]|TRPM4-related disorder [RCV004538016]|not provided [RCV001539138] Chr19:49188653 [GRCh38]
Chr19:49691910 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.240C>T (p.Phe80=) single nucleotide variant Cardiovascular phenotype [RCV002448868]|Progressive familial heart block type IB [RCV002063248]|not specified [RCV000608222] Chr19:49166188 [GRCh38]
Chr19:49669445 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3131+17C>T single nucleotide variant Progressive familial heart block type IB [RCV002062169]|not specified [RCV000608489] Chr19:49202158 [GRCh38]
Chr19:49705415 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.3315C>T (p.Ala1105=) single nucleotide variant Cardiovascular phenotype [RCV003302936]|not specified [RCV000608727] Chr19:49210392 [GRCh38]
Chr19:49713649 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2156G>A (p.Arg719Gln) single nucleotide variant Cardiovascular phenotype [RCV002431781]|Progressive familial heart block type IB [RCV000645472]|TRPM4-related disorder [RCV004530788]|not provided [RCV004704117]|not specified [RCV000614256] Chr19:49190719 [GRCh38]
Chr19:49693976 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3167T>C (p.Leu1056Pro) single nucleotide variant Long QT syndrome [RCV003318454] Chr19:49210244 [GRCh38]
Chr19:49713501 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1051G>A (p.Val351Met) single nucleotide variant Cardiovascular phenotype [RCV002395416]|Progressive familial heart block type IB [RCV000532661] Chr19:49172009 [GRCh38]
Chr19:49675266 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3329-14G>C single nucleotide variant Progressive familial heart block type IB [RCV002063205]|not specified [RCV000612066] Chr19:49210696 [GRCh38]
Chr19:49713953 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.860G>T (p.Arg287Leu) single nucleotide variant Cardiovascular phenotype [RCV000618635] Chr19:49171579 [GRCh38]
Chr19:49674836 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.651G>A (p.Pro217=) single nucleotide variant Cardiovascular phenotype [RCV003160078]|Progressive familial heart block type IB [RCV005091609]|not specified [RCV000601999] Chr19:49168591 [GRCh38]
Chr19:49671848 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.243G>C (p.Thr81=) single nucleotide variant Cardiovascular phenotype [RCV000620495]|Progressive familial heart block type IB [RCV001408995] Chr19:49166191 [GRCh38]
Chr19:49669448 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3561del (p.Trp1188fs) deletion Progressive familial heart block type IB [RCV000645461]|not provided [RCV000627554] Chr19:49211187 [GRCh38]
Chr19:49714444 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.742C>T (p.Arg248Cys) single nucleotide variant Cardiovascular phenotype [RCV000619512]|Progressive familial heart block type IB [RCV001131449]|not specified [RCV005240332] Chr19:49168682 [GRCh38]
Chr19:49671939 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.268-19C>T single nucleotide variant Progressive familial heart block type IB [RCV002066588]|not specified [RCV000600058] Chr19:49167898 [GRCh38]
Chr19:49671155 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3513C>T (p.Arg1171=) single nucleotide variant not specified [RCV000600039] Chr19:49211066 [GRCh38]
Chr19:49714323 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.385G>A (p.Val129Ile) single nucleotide variant Cardiovascular phenotype [RCV000621179]|Progressive familial heart block type IB [RCV001492540]|not provided [RCV004722978] Chr19:49168034 [GRCh38]
Chr19:49671291 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.359C>T (p.Ser120Leu) single nucleotide variant Cardiovascular phenotype [RCV000621666] Chr19:49168008 [GRCh38]
Chr19:49671265 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.206A>G (p.Glu69Gly) single nucleotide variant Inborn genetic diseases [RCV000623391]|Progressive familial heart block type IB [RCV003609165] Chr19:49166154 [GRCh38]
Chr19:49669411 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2513dup (p.Ser839fs) duplication Cardiovascular phenotype [RCV003303045]|Progressive familial heart block type IB [RCV000645458]|Progressive familial heart block type IB [RCV002493027] Chr19:49196737..49196738 [GRCh38]
Chr19:49699994..49699995 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3130A>T (p.Ser1044Cys) single nucleotide variant Cardiovascular phenotype [RCV003303046]|Progressive familial heart block type IB [RCV000645459]|Progressive familial heart block type IB [RCV002477431] Chr19:49202140 [GRCh38]
Chr19:49705397 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3386A>T (p.Lys1129Met) single nucleotide variant Cardiovascular phenotype [RCV002458088]|Progressive familial heart block type IB [RCV000645466] Chr19:49210767 [GRCh38]
Chr19:49714024 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3034G>A (p.Val1012Ile) single nucleotide variant Cardiovascular phenotype [RCV002440312]|Progressive familial heart block type IB [RCV000645467]|not provided [RCV001310424] Chr19:49202044 [GRCh38]
Chr19:49705301 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.127G>A (p.Ala43Thr) single nucleotide variant Cardiovascular phenotype [RCV002369709]|Progressive familial heart block type IB [RCV000645469]|Progressive familial heart block type IB [RCV002483861]|not provided [RCV002469231] Chr19:49166075 [GRCh38]
Chr19:49669332 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.448G>T (p.Gly150Ter) single nucleotide variant not provided [RCV000513325] Chr19:49168097 [GRCh38]
Chr19:49671354 [GRCh37]
Chr19:19q13.33		 likely pathogenic|uncertain significance
NM_017636.4(TRPM4):c.1873+4C>T single nucleotide variant Cardiovascular phenotype [RCV002413715]|Progressive familial heart block type IB [RCV001128900]|not specified [RCV000606608] Chr19:49188774 [GRCh38]
Chr19:49692031 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.2732C>T (p.Thr911Met) single nucleotide variant Cardiovascular phenotype [RCV003302897]|Progressive familial heart block type IB [RCV001853830]|Progressive familial heart block type IB [RCV002491146]|Wolff-Parkinson-White pattern [RCV000656191] Chr19:49200386 [GRCh38]
Chr19:49703643 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3260T>C (p.Leu1087Pro) single nucleotide variant Cardiovascular phenotype [RCV000617263]|Progressive familial heart block type IB [RCV005091761] Chr19:49210337 [GRCh38]
Chr19:49713594 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.856A>G (p.Thr286Ala) single nucleotide variant Cardiovascular phenotype [RCV002442502]|Progressive familial heart block type IB [RCV000701226]|not provided [RCV000996958]|not specified [RCV004800547] Chr19:49171416 [GRCh38]
Chr19:49674673 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1009C>T (p.Arg337Cys) single nucleotide variant Cardiovascular phenotype [RCV002424559]|Progressive familial heart block type IB [RCV001344483]|not provided [RCV000658849] Chr19:49171728 [GRCh38]
Chr19:49674985 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:49645600-49891280)x3 copy number gain not provided [RCV000684076] Chr19:49645600..49891280 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.11C>G (p.Pro4Arg) single nucleotide variant Progressive familial heart block type IB [RCV000700318]|Progressive familial heart block type IB [RCV002485716]|not provided [RCV001592896] Chr19:49157877 [GRCh38]
Chr19:49661134 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3323A>G (p.His1108Arg) single nucleotide variant Progressive familial heart block type IB [RCV000686523] Chr19:49210400 [GRCh38]
Chr19:49713657 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.935C>T (p.Ala312Val) single nucleotide variant Cardiovascular phenotype [RCV002369924]|Progressive familial heart block type IB [RCV000700722]|Progressive familial heart block type IB [RCV002477609] Chr19:49171654 [GRCh38]
Chr19:49674911 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.823C>T (p.Leu275Phe) single nucleotide variant Cardiovascular phenotype [RCV004678792]|Progressive familial heart block type IB [RCV000686424] Chr19:49171383 [GRCh38]
Chr19:49674640 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2843C>G (p.Thr948Arg) single nucleotide variant Progressive familial heart block type IB [RCV000687290] Chr19:49200675 [GRCh38]
Chr19:49703932 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3462-9C>A single nucleotide variant Progressive familial heart block type IB [RCV000695261] Chr19:49211006 [GRCh38]
Chr19:49714263 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2575_2580del (p.Tyr859_Leu860del) deletion Progressive familial heart block type IB [RCV000700073] Chr19:49196800..49196805 [GRCh38]
Chr19:49700057..49700062 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.194C>T (p.Ala65Val) single nucleotide variant Progressive familial heart block type IB [RCV000693947] Chr19:49166142 [GRCh38]
Chr19:49669399 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1687CTT[3] (p.Leu564dup) microsatellite Cardiovascular phenotype [RCV002406558]|Progressive familial heart block type IB [RCV000691269]|not provided [RCV000996961]|not specified [RCV004800541] Chr19:49183155..49183156 [GRCh38]
Chr19:49686412..49686413 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2904C>G (p.Tyr968Ter) single nucleotide variant Progressive familial heart block type IB [RCV000685836]|Progressive familial heart block type IB [RCV002493143] Chr19:49200736 [GRCh38]
Chr19:49703993 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:49635951-49675233)x3 copy number gain not provided [RCV000752728] Chr19:49635951..49675233 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19q13.33(chr19:49635951-49678085)x3 copy number gain not provided [RCV000752729] Chr19:49635951..49678085 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19q13.33(chr19:49640002-49675233)x3 copy number gain not provided [RCV000752730] Chr19:49640002..49675233 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1409A>G (p.Asn470Ser) single nucleotide variant Cardiovascular phenotype [RCV002391072]|Progressive familial heart block type IB [RCV001001981]|Progressive familial heart block type IB [RCV002479192] Chr19:49182723 [GRCh38]
Chr19:49685980 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1264-330_1264-329insTGTCCATC insertion not provided [RCV001546169] Chr19:49182242..49182243 [GRCh38]
Chr19:49685499..49685500 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1264-126CCAT[9] microsatellite not provided [RCV001571056] Chr19:49182452..49182463 [GRCh38]
Chr19:49685709..49685720 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_017636.4(TRPM4):c.1051-89G>A single nucleotide variant not provided [RCV001725777] Chr19:49171920 [GRCh38]
Chr19:49675177 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.268-23G>A single nucleotide variant Erythrokeratodermia variabilis et progressiva 6 [RCV001838684]|Progressive familial heart block type IB [RCV001838683]|not provided [RCV001541878] Chr19:49167894 [GRCh38]
Chr19:49671151 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1496G>A (p.Arg499Gln) single nucleotide variant Cardiomyopathy [RCV001541906] Chr19:49182810 [GRCh38]
Chr19:49686067 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.658G>A (p.Gly220Arg) single nucleotide variant Cardiomyopathy [RCV000852758]|Cardiovascular phenotype [RCV002363201] Chr19:49168598 [GRCh38]
Chr19:49671855 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2264G>A (p.Arg755His) single nucleotide variant Cardiovascular phenotype [RCV002442789]|Progressive familial heart block type IB [RCV001858513]|Ventricular tachycardia [RCV000852763] Chr19:49196493 [GRCh38]
Chr19:49699750 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3364C>T (p.Leu1122=) single nucleotide variant Cardiovascular phenotype [RCV002454035]|Progressive familial heart block type IB [RCV001437164] Chr19:49210745 [GRCh38]
Chr19:49714002 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3545G>A (p.Cys1182Tyr) single nucleotide variant Cardiovascular phenotype [RCV002451336]|Progressive familial heart block type IB [RCV001132710]|not provided [RCV001760095] Chr19:49211174 [GRCh38]
Chr19:49714431 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3043T>G (p.Tyr1015Asp) single nucleotide variant Cardiovascular phenotype [RCV002445376]|Progressive familial heart block type IB [RCV001319592]|Progressive familial heart block type IB [RCV002480455]|not provided [RCV004720760] Chr19:49202053 [GRCh38]
Chr19:49705310 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3316C>T (p.Leu1106Phe) single nucleotide variant not provided [RCV001090746] Chr19:49210393 [GRCh38]
Chr19:49713650 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.345G>A (p.Pro115=) single nucleotide variant Cardiovascular phenotype [RCV002458522]|Progressive familial heart block type IB [RCV002072046]|Progressive familial heart block type IB [RCV002501890]|not provided [RCV001551271] Chr19:49167994 [GRCh38]
Chr19:49671251 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.858+51A>G single nucleotide variant not provided [RCV001570750] Chr19:49171469 [GRCh38]
Chr19:49674726 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.875C>T (p.Thr292Ile) single nucleotide variant Progressive familial heart block type IB [RCV002958106] Chr19:49171594 [GRCh38]
Chr19:49674851 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2503G>A (p.Gly835Arg) single nucleotide variant not provided [RCV000996962] Chr19:49196732 [GRCh38]
Chr19:49699989 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1514A>G (p.His505Arg) single nucleotide variant Cardiovascular phenotype [RCV002393363]|Progressive familial heart block type IB [RCV001135904]|not provided [RCV004783902] Chr19:49182828 [GRCh38]
Chr19:49686085 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3534+27A>G single nucleotide variant not provided [RCV001725066] Chr19:49211114 [GRCh38]
Chr19:49714371 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2646-85C>T single nucleotide variant not provided [RCV001725067] Chr19:49200215 [GRCh38]
Chr19:49703472 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2645+74A>G single nucleotide variant not provided [RCV001645293] Chr19:49196948 [GRCh38]
Chr19:49700205 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1264-325_1264-322del deletion not provided [RCV001612726] Chr19:49182251..49182254 [GRCh38]
Chr19:49685508..49685511 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2953+219_2953+220insCT insertion not provided [RCV001645538] Chr19:49201003..49201004 [GRCh38]
Chr19:49704260..49704261 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.3093C>A (p.Ala1031=) single nucleotide variant Progressive familial heart block type IB [RCV001480405] Chr19:49202103 [GRCh38]
Chr19:49705360 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2210+9A>C single nucleotide variant not provided [RCV000883260] Chr19:49190782 [GRCh38]
Chr19:49694039 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3329-8C>G single nucleotide variant Progressive familial heart block type IB [RCV001487095]|Progressive familial heart block type IB [RCV002505303]|not provided [RCV004726728] Chr19:49210702 [GRCh38]
Chr19:49713959 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.2535C>G (p.Pro845=) single nucleotide variant Cardiovascular phenotype [RCV002427116]|Progressive familial heart block type IB [RCV002064498]|Progressive familial heart block type IB [RCV002495244]|TRPM4-related disorder [RCV004538219]|not provided [RCV000864646] Chr19:49196764 [GRCh38]
Chr19:49700021 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.2361G>A (p.Val787=) single nucleotide variant Cardiovascular phenotype [RCV002453955]|Progressive familial heart block type IB [RCV001498313] Chr19:49196590 [GRCh38]
Chr19:49699847 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.786G>T (p.Thr262=) single nucleotide variant Cardiovascular phenotype [RCV005286247]|not provided [RCV000899408] Chr19:49168726 [GRCh38]
Chr19:49671983 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1874-9C>T single nucleotide variant Progressive familial heart block type IB [RCV001128902]|not provided [RCV001576859] Chr19:49188937 [GRCh38]
Chr19:49692194 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.3600C>G (p.Pro1200=) single nucleotide variant Progressive familial heart block type IB [RCV001407745] Chr19:49211229 [GRCh38]
Chr19:49714486 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2645+9C>A single nucleotide variant Progressive familial heart block type IB [RCV001413429] Chr19:49196883 [GRCh38]
Chr19:49700140 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.878A>G (p.Gln293Arg) single nucleotide variant Cardiovascular phenotype [RCV002442820]|Progressive familial heart block type IB [RCV001131451] Chr19:49171597 [GRCh38]
Chr19:49674854 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3072C>T (p.Leu1024=) single nucleotide variant Cardiovascular phenotype [RCV002319597]|Progressive familial heart block type IB [RCV000866230] Chr19:49202082 [GRCh38]
Chr19:49705339 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
NM_017636.4(TRPM4):c.3530G>A (p.Arg1177Gln) single nucleotide variant Progressive familial heart block type IB [RCV001052912] Chr19:49211083 [GRCh38]
Chr19:49714340 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2432G>C (p.Gly811Ala) single nucleotide variant Cardiovascular phenotype [RCV003160527]|Progressive familial heart block type IB [RCV001064309] Chr19:49196661 [GRCh38]
Chr19:49699918 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.30G>A (p.Trp10Ter) single nucleotide variant Progressive familial heart block type IB [RCV001038669] Chr19:49158197 [GRCh38]
Chr19:49661454 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.344del (p.Pro115fs) deletion Cardiovascular phenotype [RCV002458391]|Progressive familial heart block type IB [RCV000779263] Chr19:49167990 [GRCh38]
Chr19:49671247 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1050+1G>A single nucleotide variant Cardiovascular phenotype [RCV002397556]|Progressive familial heart block type IB [RCV000779264]|Progressive familial heart block type IB [RCV002487601]|not provided [RCV001766616] Chr19:49171770 [GRCh38]
Chr19:49675027 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2645+1G>A single nucleotide variant Cardiovascular phenotype [RCV002458392]|Progressive familial heart block type IB [RCV000779265]|Progressive familial heart block type IB [RCV002501013] Chr19:49196875 [GRCh38]
Chr19:49700132 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3328+1G>A single nucleotide variant Progressive familial heart block type IB [RCV000779266] Chr19:49210406 [GRCh38]
Chr19:49713663 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1272T>C (p.His424=) single nucleotide variant Cardiovascular phenotype [RCV002372592]|Progressive familial heart block type IB [RCV001496707] Chr19:49182586 [GRCh38]
Chr19:49685843 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3441T>C (p.Arg1147=) single nucleotide variant Progressive familial heart block type IB [RCV001468941] Chr19:49210822 [GRCh38]
Chr19:49714079 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2779-8C>T single nucleotide variant not provided [RCV000876996] Chr19:49200603 [GRCh38]
Chr19:49703860 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2985G>A (p.Ser995=) single nucleotide variant Cardiovascular phenotype [RCV003307595]|Progressive familial heart block type IB [RCV001503584] Chr19:49201995 [GRCh38]
Chr19:49705252 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1051-9A>G single nucleotide variant Progressive familial heart block type IB [RCV001513937] Chr19:49172000 [GRCh38]
Chr19:49675257 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2211-5C>A single nucleotide variant Cardiovascular phenotype [RCV003380784]|Progressive familial heart block type IB [RCV001464480] Chr19:49196435 [GRCh38]
Chr19:49699692 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1371G>T (p.Pro457=) single nucleotide variant Progressive familial heart block type IB [RCV001463100] Chr19:49182685 [GRCh38]
Chr19:49685942 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2247C>T (p.Val749=) single nucleotide variant Progressive familial heart block type IB [RCV001417583] Chr19:49196476 [GRCh38]
Chr19:49699733 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1710C>T (p.Asn570=) single nucleotide variant Progressive familial heart block type IB [RCV000940899] Chr19:49183179 [GRCh38]
Chr19:49686436 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1488G>A (p.Ala496=) single nucleotide variant Progressive familial heart block type IB [RCV001416631] Chr19:49182802 [GRCh38]
Chr19:49686059 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3007C>G (p.Pro1003Ala) single nucleotide variant Cardiovascular phenotype [RCV004309870] Chr19:49202017 [GRCh38]
Chr19:49705274 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3131+110C>A single nucleotide variant not provided [RCV000839504] Chr19:49202251 [GRCh38]
Chr19:49705508 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.3(TRPM4):c.-235A>G single nucleotide variant not provided [RCV000834153] Chr19:49157632 [GRCh38]
Chr19:49660889 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.92+66T>C single nucleotide variant not provided [RCV000834154] Chr19:49158325 [GRCh38]
Chr19:49661582 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.613-39C>T single nucleotide variant not provided [RCV000835808] Chr19:49168514 [GRCh38]
Chr19:49671771 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1150+91C>T single nucleotide variant not provided [RCV000835809] Chr19:49172199 [GRCh38]
Chr19:49675456 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.970G>T (p.Gly324Trp) single nucleotide variant Cardiovascular phenotype [RCV002372329]|Progressive familial heart block type IB [RCV000819268]|not provided [RCV003329347] Chr19:49171689 [GRCh38]
Chr19:49674946 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3329-99G>A single nucleotide variant not provided [RCV000834172] Chr19:49210611 [GRCh38]
Chr19:49713868 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.3(TRPM4):c.-262C>T single nucleotide variant not provided [RCV000832027] Chr19:49157605 [GRCh38]
Chr19:49660862 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.634C>T (p.Arg212Trp) single nucleotide variant Cardiovascular phenotype [RCV002363161]|Progressive familial heart block type IB [RCV000821421]|Progressive familial heart block type IB [RCV002487841]|not provided [RCV001541685] Chr19:49168574 [GRCh38]
Chr19:49671831 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NC_000019.10:g.49211016del deletion Progressive familial heart block type IB [RCV000800149] Chr19:49211014 [GRCh38]
Chr19:49714271 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.267+89C>G single nucleotide variant not provided [RCV000834776] Chr19:49166304 [GRCh38]
Chr19:49669561 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.93-110T>C single nucleotide variant not provided [RCV000834779] Chr19:49165931 [GRCh38]
Chr19:49669188 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.3132-213A>G single nucleotide variant not provided [RCV000834780] Chr19:49209996 [GRCh38]
Chr19:49713253 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.3498C>T (p.Arg1166=) single nucleotide variant Progressive familial heart block type IB [RCV001858849] Chr19:49211051 [GRCh38]
Chr19:49714308 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1611G>A (p.Met537Ile) single nucleotide variant Cardiovascular phenotype [RCV002397689]|Progressive familial heart block type IB [RCV000814986]|not provided [RCV001776030] Chr19:49183080 [GRCh38]
Chr19:49686337 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2020-347A>G single nucleotide variant not provided [RCV000844225] Chr19:49189861 [GRCh38]
Chr19:49693118 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1308C>A (p.Asp436Glu) single nucleotide variant Cardiovascular phenotype [RCV002386383]|Progressive familial heart block type IB [RCV000793089]|Progressive familial heart block type IB [RCV002477801] Chr19:49182622 [GRCh38]
Chr19:49685879 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2953+5G>C single nucleotide variant Cardiovascular phenotype [RCV002433984]|Progressive familial heart block type IB [RCV000815487]|Progressive familial heart block type IB [RCV002495151]|not provided [RCV001766714] Chr19:49200790 [GRCh38]
Chr19:49704047 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2020-117G>T single nucleotide variant not provided [RCV000838343] Chr19:49190091 [GRCh38]
Chr19:49693348 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2289C>G (p.Cys763Trp) single nucleotide variant Cardiovascular phenotype [RCV002442654]|Long QT syndrome [RCV003318385]|Progressive familial heart block type IB [RCV000800286]|not provided [RCV004693287] Chr19:49196518 [GRCh38]
Chr19:49699775 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1051-33C>T single nucleotide variant not provided [RCV000834777] Chr19:49171976 [GRCh38]
Chr19:49675233 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1010G>A (p.Arg337His) single nucleotide variant Cardiovascular phenotype [RCV002325534]|Progressive familial heart block type IB [RCV000800542] Chr19:49171729 [GRCh38]
Chr19:49674986 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.418C>T (p.Arg140Cys) single nucleotide variant Cardiovascular phenotype [RCV003372886]|Progressive familial heart block type IB [RCV000822962]|not provided [RCV002281139] Chr19:49168067 [GRCh38]
Chr19:49671324 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3434C>G (p.Ser1145Cys) single nucleotide variant Cardiovascular phenotype [RCV002453899]|Progressive familial heart block type IB [RCV000822994]|not provided [RCV001585764] Chr19:49210815 [GRCh38]
Chr19:49714072 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3066G>A (p.Leu1022=) single nucleotide variant not provided [RCV000841716] Chr19:49202076 [GRCh38]
Chr19:49705333 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1697C>T (p.Ala566Val) single nucleotide variant Cardiovascular phenotype [RCV003169054]|Progressive familial heart block type IB [RCV000823625] Chr19:49183166 [GRCh38]
Chr19:49686423 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.590G>A (p.Arg197Lys) single nucleotide variant Progressive familial heart block type IB [RCV000797557] Chr19:49168401 [GRCh38]
Chr19:49671658 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1783C>G (p.Leu595Val) single nucleotide variant Cardiovascular phenotype [RCV002397742]|Progressive familial heart block type IB [RCV000824083]|not provided [RCV001766756] Chr19:49188680 [GRCh38]
Chr19:49691937 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3090G>A (p.Val1030=) single nucleotide variant Progressive familial heart block type IB [RCV000814477] Chr19:49202100 [GRCh38]
Chr19:49705357 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1163C>T (p.Ser388Leu) single nucleotide variant Cardiovascular phenotype [RCV002319907]|Progressive familial heart block type IB [RCV000821476] Chr19:49181361 [GRCh38]
Chr19:49684618 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.982C>T (p.Gln328Ter) single nucleotide variant Progressive familial heart block type IB [RCV000798209] Chr19:49171701 [GRCh38]
Chr19:49674958 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.936G>A (p.Ala312=) single nucleotide variant Cardiovascular phenotype [RCV002372371]|Progressive familial heart block type IB [RCV001078770]|not provided [RCV000827495] Chr19:49171655 [GRCh38]
Chr19:49674912 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.2403G>T (p.Leu801=) single nucleotide variant Cardiovascular phenotype [RCV003163289]|Progressive familial heart block type IB [RCV001132607] Chr19:49196632 [GRCh38]
Chr19:49699889 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.*6G>A single nucleotide variant Progressive familial heart block type IB [RCV001132711] Chr19:49211504 [GRCh38]
Chr19:49714761 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1727T>C (p.Met576Thr) single nucleotide variant Cardiovascular phenotype [RCV002411642]|Progressive familial heart block type IB [RCV001135905] Chr19:49183196 [GRCh38]
Chr19:49686453 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3119T>C (p.Ile1040Thr) single nucleotide variant Erythrokeratodermia variabilis et progressiva 6 [RCV000808167]|Progressive familial heart block type IB [RCV001386316]|not provided [RCV001759549] Chr19:49202129 [GRCh38]
Chr19:49705386 [GRCh37]
Chr19:19q13.33		 pathogenic|uncertain significance
NM_017636.4(TRPM4):c.743G>A (p.Arg248His) single nucleotide variant Cardiovascular phenotype [RCV004678824]|Progressive familial heart block type IB [RCV000791911]|not provided [RCV001355221] Chr19:49168683 [GRCh38]
Chr19:49671940 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2779-14A>G single nucleotide variant not provided [RCV000826951] Chr19:49200597 [GRCh38]
Chr19:49703854 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3099C>G (p.Ile1033Met) single nucleotide variant Erythrokeratodermia variabilis et progressiva 6 [RCV000808168] Chr19:49202109 [GRCh38]
Chr19:49705366 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_017636.4(TRPM4):c.2529G>C (p.Gly843=) single nucleotide variant Progressive familial heart block type IB [RCV001135989] Chr19:49196758 [GRCh38]
Chr19:49700015 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.3578T>C (p.Leu1193Pro) single nucleotide variant Progressive familial heart block type IB [RCV000815254] Chr19:49211207 [GRCh38]
Chr19:49714464 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3377C>G (p.Ser1126Trp) single nucleotide variant Cardiovascular phenotype [RCV002453950]|Progressive familial heart block type IB [RCV000864593]|not provided [RCV001570880] Chr19:49210758 [GRCh38]
Chr19:49714015 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.92+17T>C single nucleotide variant Progressive familial heart block type IB [RCV002538292]|not provided [RCV000840692] Chr19:49158276 [GRCh38]
Chr19:49661533 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2583C>G (p.Ala861=) single nucleotide variant Progressive familial heart block type IB [RCV001493494] Chr19:49196812 [GRCh38]
Chr19:49700069 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2895C>T (p.Arg965=) single nucleotide variant Progressive familial heart block type IB [RCV001464319]|Progressive familial heart block type IB [RCV002501200] Chr19:49200727 [GRCh38]
Chr19:49703984 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2761G>A (p.Val921Ile) single nucleotide variant Cardiovascular phenotype [RCV002433974]|Progressive familial heart block type IB [RCV000814369]|not provided [RCV001540576]|not specified [RCV005405322] Chr19:49200415 [GRCh38]
Chr19:49703672 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3131+98C>T single nucleotide variant not provided [RCV000835833] Chr19:49202239 [GRCh38]
Chr19:49705496 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.3131+105C>G single nucleotide variant not provided [RCV000835834] Chr19:49202246 [GRCh38]
Chr19:49705503 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.797-125A>G single nucleotide variant not provided [RCV000839318] Chr19:49171232 [GRCh38]
Chr19:49674489 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2132+91G>A single nucleotide variant not provided [RCV000839334] Chr19:49190411 [GRCh38]
Chr19:49693668 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2133-87C>T single nucleotide variant not provided [RCV000839335] Chr19:49190609 [GRCh38]
Chr19:49693866 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.24+5G>A single nucleotide variant Progressive familial heart block type IB [RCV000815366] Chr19:49157895 [GRCh38]
Chr19:49661152 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2210+10G>T single nucleotide variant Progressive familial heart block type IB [RCV003106080]|not provided [RCV000842556] Chr19:49190783 [GRCh38]
Chr19:49694040 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1466C>T (p.Pro489Leu) single nucleotide variant Progressive familial heart block type IB [RCV001134433]|Progressive familial heart block type IB [RCV002480512] Chr19:49182780 [GRCh38]
Chr19:49686037 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3328+2T>C single nucleotide variant not provided [RCV000996963] Chr19:49210407 [GRCh38]
Chr19:49713664 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2154A>C (p.Thr718=) single nucleotide variant Cardiovascular phenotype [RCV003293894]|Progressive familial heart block type IB [RCV001131573] Chr19:49190717 [GRCh38]
Chr19:49693974 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.*234C>T single nucleotide variant Progressive familial heart block type IB [RCV001136114] Chr19:49211732 [GRCh38]
Chr19:49714989 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3446A>G (p.Lys1149Arg) single nucleotide variant Cardiovascular phenotype [RCV002454244]|Progressive familial heart block type IB [RCV001869397]|not provided [RCV000996964] Chr19:49210827 [GRCh38]
Chr19:49714084 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.974G>C (p.Gly325Ala) single nucleotide variant not provided [RCV000996960] Chr19:49171693 [GRCh38]
Chr19:49674950 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.62C>T (p.Thr21Met) single nucleotide variant Cardiovascular phenotype [RCV004033661]|Progressive familial heart block type IB [RCV001205894] Chr19:49158229 [GRCh38]
Chr19:49661486 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2774A>C (p.Lys925Thr) single nucleotide variant Cardiovascular phenotype [RCV002434394]|Progressive familial heart block type IB [RCV001001978]|Progressive familial heart block type IB [RCV002505530] Chr19:49200428 [GRCh38]
Chr19:49703685 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.912_913del (p.Gly306fs) deletion Progressive familial heart block type IB [RCV001212099] Chr19:49171631..49171632 [GRCh38]
Chr19:49674888..49674889 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2840C>A (p.Ala947Asp) single nucleotide variant Cardiovascular phenotype [RCV002436823]|Progressive familial heart block type IB [RCV001214630]|Progressive familial heart block type IB [RCV002491663] Chr19:49200672 [GRCh38]
Chr19:49703929 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
NM_017636.4(TRPM4):c.1150+5A>T single nucleotide variant Cardiovascular phenotype [RCV002451478]|Progressive familial heart block type IB [RCV001216292] Chr19:49172113 [GRCh38]
Chr19:49675370 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3461A>G (p.Lys1154Arg) single nucleotide variant Cardiovascular phenotype [RCV002339642]|Progressive familial heart block type IB [RCV001233370]|not provided [RCV004720808] Chr19:49210842 [GRCh38]
Chr19:49714099 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1987G>A (p.Ala663Thr) single nucleotide variant Cardiovascular phenotype [RCV004032605]|Progressive familial heart block type IB [RCV001227557] Chr19:49189059 [GRCh38]
Chr19:49692316 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.612+1G>A single nucleotide variant Progressive familial heart block type IB [RCV001235178]|not provided [RCV002224030] Chr19:49168424 [GRCh38]
Chr19:49671681 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2011G>A (p.Gly671Arg) single nucleotide variant Progressive familial heart block type IB [RCV001203575] Chr19:49189083 [GRCh38]
Chr19:49692340 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.131A>G (p.His44Arg) single nucleotide variant Progressive familial heart block type IB [RCV001237168] Chr19:49166079 [GRCh38]
Chr19:49669336 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.617C>T (p.Ser206Leu) single nucleotide variant Cardiovascular phenotype [RCV004678991]|Progressive familial heart block type IB [RCV001205130] Chr19:49168557 [GRCh38]
Chr19:49671814 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1039C>G (p.Leu347Val) single nucleotide variant Cardiomyopathy [RCV000852480] Chr19:49171758 [GRCh38]
Chr19:49675015 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3 copy number gain not provided [RCV000847250] Chr19:49600909..51366070 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.730G>C (p.Gly244Arg) single nucleotide variant Cardiovascular phenotype [RCV004308363]|not provided [RCV005422289] Chr19:49168670 [GRCh38]
Chr19:49671927 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2038T>G (p.Trp680Gly) single nucleotide variant Progressive familial heart block type IB [RCV004813526] Chr19:49190226 [GRCh38]
Chr19:49693483 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2275T>G (p.Cys759Gly) single nucleotide variant Cardiovascular phenotype [RCV002445395]|Progressive familial heart block type IB [RCV001132605] Chr19:49196504 [GRCh38]
Chr19:49699761 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1870G>T (p.Val624Phe) single nucleotide variant Progressive familial heart block type IB [RCV001198795] Chr19:49188767 [GRCh38]
Chr19:49692024 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2020-3C>G single nucleotide variant Progressive familial heart block type IB [RCV001237797] Chr19:49190205 [GRCh38]
Chr19:49693462 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1490A>G (p.Glu497Gly) single nucleotide variant Cardiovascular phenotype [RCV002393588]|Progressive familial heart block type IB [RCV001234188] Chr19:49182804 [GRCh38]
Chr19:49686061 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3473C>T (p.Ala1158Val) single nucleotide variant Cardiovascular phenotype [RCV004679029]|Progressive familial heart block type IB [RCV001238554] Chr19:49211026 [GRCh38]
Chr19:49714283 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1006A>G (p.Arg336Gly) single nucleotide variant Cardiovascular phenotype [RCV002418590]|Progressive familial heart block type IB [RCV001134432] Chr19:49171725 [GRCh38]
Chr19:49674982 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2835C>T (p.Gly945=) single nucleotide variant Progressive familial heart block type IB [RCV001129015] Chr19:49200667 [GRCh38]
Chr19:49703924 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3292A>C (p.Ser1098Arg) single nucleotide variant not provided [RCV001090745] Chr19:49210369 [GRCh38]
Chr19:49713626 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.588T>A (p.Asn196Lys) single nucleotide variant Progressive familial heart block type IB [RCV001198131] Chr19:49168399 [GRCh38]
Chr19:49671656 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.959C>T (p.Ala320Val) single nucleotide variant Progressive familial heart block type IB [RCV001242657] Chr19:49171678 [GRCh38]
Chr19:49674935 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3512G>T (p.Arg1171Leu) single nucleotide variant Cardiovascular phenotype [RCV002451573]|Progressive familial heart block type IB [RCV001237341] Chr19:49211065 [GRCh38]
Chr19:49714322 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1867G>A (p.Gly623Ser) single nucleotide variant not provided [RCV003234403] Chr19:49188764 [GRCh38]
Chr19:49692021 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1561T>A (p.Ser521Thr) single nucleotide variant not provided [RCV004787535] Chr19:49182875 [GRCh38]
Chr19:49686132 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1356C>T (p.Gly452=) single nucleotide variant Progressive familial heart block type IB [RCV003502714]|not specified [RCV003230790] Chr19:49182670 [GRCh38]
Chr19:49685927 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1380G>T (p.Leu460=) single nucleotide variant Cardiovascular phenotype [RCV004681222]|Progressive familial heart block type IB [RCV002072040]|not provided [RCV001550489] Chr19:49182694 [GRCh38]
Chr19:49685951 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3131+55T>G single nucleotide variant not provided [RCV001545429] Chr19:49202196 [GRCh38]
Chr19:49705453 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1263+86_1263+90dup duplication not provided [RCV001569234] Chr19:49181530..49181531 [GRCh38]
Chr19:49684787..49684788 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1264-126CCAT[10] microsatellite not provided [RCV001566110] Chr19:49182452..49182459 [GRCh38]
Chr19:49685709..49685716 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1264-141CATC[4] microsatellite not provided [RCV001551746] Chr19:49182436..49182437 [GRCh38]
Chr19:49685693..49685694 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3131+242G>A single nucleotide variant not provided [RCV001670788] Chr19:49202383 [GRCh38]
Chr19:49705640 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1802G>T (p.Arg601Leu) single nucleotide variant Progressive familial heart block type IB [RCV001866116]|not provided [RCV001583389] Chr19:49188699 [GRCh38]
Chr19:49691956 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1263+89_1263+90dup duplication not provided [RCV001638668] Chr19:49181530..49181531 [GRCh38]
Chr19:49684787..49684788 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2132+174T>C single nucleotide variant not provided [RCV001555319] Chr19:49190494 [GRCh38]
Chr19:49693751 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2953+226dup duplication not provided [RCV001684506] Chr19:49201000..49201001 [GRCh38]
Chr19:49704257..49704258 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1743+246G>T single nucleotide variant not provided [RCV001569115] Chr19:49183458 [GRCh38]
Chr19:49686715 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.797-161A>G single nucleotide variant not provided [RCV001576758] Chr19:49171196 [GRCh38]
Chr19:49674453 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1264-325T>C single nucleotide variant not provided [RCV001674221] Chr19:49182253 [GRCh38]
Chr19:49685510 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2133-129A>G single nucleotide variant not provided [RCV001639145] Chr19:49190567 [GRCh38]
Chr19:49693824 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.797-119C>A single nucleotide variant not provided [RCV001645682] Chr19:49171238 [GRCh38]
Chr19:49674495 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2953+46C>G single nucleotide variant not provided [RCV001576903] Chr19:49200831 [GRCh38]
Chr19:49704088 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1264-126CCAT[13] microsatellite not provided [RCV001562454] Chr19:49182451..49182452 [GRCh38]
Chr19:49685708..49685709 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1263+88_1263+90dup duplication not provided [RCV001682512] Chr19:49181530..49181531 [GRCh38]
Chr19:49684787..49684788 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.267+97C>T single nucleotide variant not provided [RCV001571861] Chr19:49166312 [GRCh38]
Chr19:49669569 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1263+87_1263+90dup duplication not provided [RCV001578058] Chr19:49181530..49181531 [GRCh38]
Chr19:49684787..49684788 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3131+72C>T single nucleotide variant not provided [RCV001546848] Chr19:49202213 [GRCh38]
Chr19:49705470 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.859-64T>C single nucleotide variant not provided [RCV001552356] Chr19:49171514 [GRCh38]
Chr19:49674771 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1264-126CCAT[8] microsatellite not provided [RCV001541662] Chr19:49182452..49182467 [GRCh38]
Chr19:49685709..49685724 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.92+31A>G single nucleotide variant Erythrokeratodermia variabilis et progressiva 6 [RCV001838767]|Progressive familial heart block type IB [RCV001838766]|not provided [RCV001684155] Chr19:49158290 [GRCh38]
Chr19:49661547 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2132+172del deletion not provided [RCV001540434] Chr19:49190486 [GRCh38]
Chr19:49693743 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.641G>A (p.Arg214His) single nucleotide variant Cardiovascular phenotype [RCV002363200]|Hypertrophic cardiomyopathy [RCV000852757]|Progressive familial heart block type IB [RCV001247868]|not specified [RCV005405346] Chr19:49168581 [GRCh38]
Chr19:49671838 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3462-8C>T single nucleotide variant Progressive familial heart block type IB [RCV001429663] Chr19:49211007 [GRCh38]
Chr19:49714264 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1787T>C (p.Leu596Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV000852482]|Progressive familial heart block type IB [RCV001869299]|not provided [RCV002223961] Chr19:49188684 [GRCh38]
Chr19:49691941 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1873+3G>T single nucleotide variant Brugada syndrome [RCV000853593]|Cardiovascular phenotype [RCV002409009]|Progressive familial heart block type IB [RCV002536199] Chr19:49188773 [GRCh38]
Chr19:49692030 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2629C>T (p.Leu877=) single nucleotide variant Cardiovascular phenotype [RCV002427261]|Progressive familial heart block type IB [RCV000904535]|not specified [RCV005405398] Chr19:49196858 [GRCh38]
Chr19:49700115 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1442C>G (p.Ser481Cys) single nucleotide variant Cardiovascular phenotype [RCV002390762]|Progressive familial heart block type IB [RCV001510197]|not provided [RCV004717718] Chr19:49182756 [GRCh38]
Chr19:49686013 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.3209A>T (p.His1070Leu) single nucleotide variant Progressive familial heart block type IB [RCV001041361] Chr19:49210286 [GRCh38]
Chr19:49713543 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1243C>T (p.Arg415Trp) single nucleotide variant Progressive familial heart block type IB [RCV001058517]|not provided [RCV002272400] Chr19:49181441 [GRCh38]
Chr19:49684698 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.242C>T (p.Thr81Met) single nucleotide variant Progressive familial heart block type IB [RCV001060506] Chr19:49166190 [GRCh38]
Chr19:49669447 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3366A>G (p.Leu1122=) single nucleotide variant Progressive familial heart block type IB [RCV001131697] Chr19:49210747 [GRCh38]
Chr19:49714004 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.952A>C (p.Thr318Pro) single nucleotide variant Progressive familial heart block type IB [RCV001060763] Chr19:49171671 [GRCh38]
Chr19:49674928 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1324C>T (p.Arg442Cys) single nucleotide variant Cardiovascular phenotype [RCV002379602]|Progressive familial heart block type IB [RCV001067180]|Progressive familial heart block type IB [RCV002505647]|not provided [RCV001759840] Chr19:49182638 [GRCh38]
Chr19:49685895 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2274C>G (p.Cys758Trp) single nucleotide variant Cardiovascular phenotype [RCV002445394]|Progressive familial heart block type IB [RCV001132604] Chr19:49196503 [GRCh38]
Chr19:49699760 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.*15C>G single nucleotide variant Progressive familial heart block type IB [RCV001132712]|not specified [RCV005419007] Chr19:49211513 [GRCh38]
Chr19:49714770 [GRCh37]
Chr19:19q13.33		 benign|uncertain significance
NM_017636.4(TRPM4):c.1836G>A (p.Arg612=) single nucleotide variant Cardiovascular phenotype [RCV002411637]|Progressive familial heart block type IB [RCV001128898] Chr19:49188733 [GRCh38]
Chr19:49691990 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.1843C>T (p.Leu615=) single nucleotide variant Cardiovascular phenotype [RCV002411638]|Progressive familial heart block type IB [RCV001128899] Chr19:49188740 [GRCh38]
Chr19:49691997 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.1908G>C (p.Val636=) single nucleotide variant Progressive familial heart block type IB [RCV001128903] Chr19:49188980 [GRCh38]
Chr19:49692237 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.2020-11A>T single nucleotide variant Progressive familial heart block type IB [RCV001128904] Chr19:49190197 [GRCh38]
Chr19:49693454 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2712G>T (p.Val904=) single nucleotide variant Cardiovascular phenotype [RCV002429770]|Progressive familial heart block type IB [RCV001129013]|TRPM4-related disorder [RCV004545075] Chr19:49200366 [GRCh38]
Chr19:49703623 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.2760C>G (p.Ile920Met) single nucleotide variant Progressive familial heart block type IB [RCV001129014] Chr19:49200414 [GRCh38]
Chr19:49703671 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3575C>T (p.Ala1192Val) single nucleotide variant Progressive familial heart block type IB [RCV001211300] Chr19:49211204 [GRCh38]
Chr19:49714461 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.*316G>A single nucleotide variant Progressive familial heart block type IB [RCV001136115]|Progressive familial heart block type IB [RCV002491406] Chr19:49211814 [GRCh38]
Chr19:49715071 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3602C>T (p.Pro1201Leu) single nucleotide variant Cardiovascular phenotype [RCV002454266]|Progressive familial heart block type IB [RCV001035829] Chr19:49211231 [GRCh38]
Chr19:49714488 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3630T>G (p.Pro1210=) single nucleotide variant Cardiovascular phenotype [RCV004678868]|Progressive familial heart block type IB [RCV002544465] Chr19:49211259 [GRCh38]
Chr19:49714516 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1151-338A>G single nucleotide variant not provided [RCV001563132] Chr19:49181011 [GRCh38]
Chr19:49684268 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1264-141CATC[2] microsatellite not provided [RCV001582339] Chr19:49182437..49182440 [GRCh38]
Chr19:49685694..49685697 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2646-156T>C single nucleotide variant not provided [RCV001719609] Chr19:49200144 [GRCh38]
Chr19:49703401 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.3131+280G>A single nucleotide variant not provided [RCV001559603] Chr19:49202421 [GRCh38]
Chr19:49705678 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1263+90dup duplication not provided [RCV001571795] Chr19:49181530..49181531 [GRCh38]
Chr19:49684787..49684788 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2815G>T (p.Val939Leu) single nucleotide variant Cardiovascular phenotype [RCV002440806]|Progressive familial heart block type IB [RCV003609184]|not provided [RCV001568556] Chr19:49200647 [GRCh38]
Chr19:49703904 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1264-323TCCA[5] microsatellite not provided [RCV001555288] Chr19:49182254..49182255 [GRCh38]
Chr19:49685511..49685512 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1609-38G>A single nucleotide variant not provided [RCV001555355] Chr19:49183040 [GRCh38]
Chr19:49686297 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2546A>G (p.His849Arg) single nucleotide variant Progressive familial heart block type IB [RCV001865975]|not provided [RCV001560708] Chr19:49196775 [GRCh38]
Chr19:49700032 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1264-126CCAT[14] microsatellite not provided [RCV001555587] Chr19:49182451..49182452 [GRCh38]
Chr19:49685708..49685709 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2646-190A>C single nucleotide variant not provided [RCV001550635] Chr19:49200110 [GRCh38]
Chr19:49703367 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1751A>G (p.Asn584Ser) single nucleotide variant Cardiovascular phenotype [RCV004995951]|Progressive familial heart block type IB [RCV002568493]|not provided [RCV001576774] Chr19:49188648 [GRCh38]
Chr19:49691905 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1263+216G>A single nucleotide variant not provided [RCV001556458] Chr19:49181677 [GRCh38]
Chr19:49684934 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2953+227C>T single nucleotide variant not provided [RCV001619591] Chr19:49201012 [GRCh38]
Chr19:49704269 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1264-330_1264-329insTGTC insertion not provided [RCV001674573] Chr19:49182246..49182247 [GRCh38]
Chr19:49685503..49685504 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2954-101del deletion not provided [RCV001597583] Chr19:49201860 [GRCh38]
Chr19:49705117 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.268-85C>T single nucleotide variant not provided [RCV001659387] Chr19:49167832 [GRCh38]
Chr19:49671089 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2778+75A>G single nucleotide variant not provided [RCV001654793] Chr19:49200507 [GRCh38]
Chr19:49703764 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1744-76T>C single nucleotide variant not provided [RCV001597748] Chr19:49188565 [GRCh38]
Chr19:49691822 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.*80C>T single nucleotide variant not provided [RCV001590859] Chr19:49211578 [GRCh38]
Chr19:49714835 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2778+58G>C single nucleotide variant not provided [RCV001717439] Chr19:49200490 [GRCh38]
Chr19:49703747 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.797-51C>G single nucleotide variant not provided [RCV001717440] Chr19:49171306 [GRCh38]
Chr19:49674563 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1264-324G>A single nucleotide variant not provided [RCV001719613] Chr19:49182254 [GRCh38]
Chr19:49685511 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1264-82C>A single nucleotide variant not provided [RCV001658553] Chr19:49182496 [GRCh38]
Chr19:49685753 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2019+25C>G single nucleotide variant Erythrokeratodermia variabilis et progressiva 6 [RCV001838751]|Progressive familial heart block type IB [RCV001838750]|not provided [RCV001674483] Chr19:49189116 [GRCh38]
Chr19:49692373 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.3132-63C>A single nucleotide variant not provided [RCV001592019] Chr19:49210146 [GRCh38]
Chr19:49713403 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1264-102_1264-101del deletion not provided [RCV001718268] Chr19:49182476..49182477 [GRCh38]
Chr19:49685733..49685734 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1264-99_1264-86del deletion not provided [RCV001636130] Chr19:49182479..49182492 [GRCh38]
Chr19:49685736..49685749 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2999G>A (p.Trp1000Ter) single nucleotide variant not provided [RCV001700936] Chr19:49202009 [GRCh38]
Chr19:49705266 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2954-136C>G single nucleotide variant not provided [RCV001636301] Chr19:49201828 [GRCh38]
Chr19:49705085 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2369A>G (p.Tyr790Cys) single nucleotide variant Progressive familial heart block type IB [RCV001034854] Chr19:49196598 [GRCh38]
Chr19:49699855 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2260G>C (p.Gly754Arg) single nucleotide variant Cardiovascular phenotype [RCV003160443]|Progressive familial heart block type IB [RCV001055381] Chr19:49196489 [GRCh38]
Chr19:49699746 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1150+6A>G single nucleotide variant Progressive familial heart block type IB [RCV001057701] Chr19:49172114 [GRCh38]
Chr19:49675371 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.287G>A (p.Arg96Gln) single nucleotide variant Cardiovascular phenotype [RCV002436665]|Progressive familial heart block type IB [RCV001066986] Chr19:49167936 [GRCh38]
Chr19:49671193 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.837T>C (p.Asp279=) single nucleotide variant Cardiovascular phenotype [RCV003163288]|Progressive familial heart block type IB [RCV001131450] Chr19:49171397 [GRCh38]
Chr19:49674654 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017636.4(TRPM4):c.1264-223TCCA[10] microsatellite not provided [RCV001647831] Chr19:49182354..49182355 [GRCh38]
Chr19:49685611..49685612 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2529G>A (p.Gly843=) single nucleotide variant Cardiovascular phenotype [RCV002427453]|Progressive familial heart block type IB [RCV001001185] Chr19:49196758 [GRCh38]
Chr19:49700015 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2767G>A (p.Val923Met) single nucleotide variant Cardiovascular phenotype [RCV002436560]|Progressive familial heart block type IB [RCV001042934]|not provided [RCV004693493]|not specified [RCV005405481] Chr19:49200421 [GRCh38]
Chr19:49703678 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.277C>G (p.Leu93Val) single nucleotide variant Progressive familial heart block type IB [RCV001054433] Chr19:49167926 [GRCh38]
Chr19:49671183 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2646-246C>T single nucleotide variant not provided [RCV001725776] Chr19:49200054 [GRCh38]
Chr19:49703311 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.92+162G>C single nucleotide variant not provided [RCV001665750] Chr19:49158421 [GRCh38]
Chr19:49661678 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2749G>A (p.Gly917Arg) single nucleotide variant Cardiovascular phenotype [RCV004030647]|Progressive familial heart block type IB [RCV001067342]|not provided [RCV001585972] Chr19:49200403 [GRCh38]
Chr19:49703660 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.885G>C (p.Gln295His) single nucleotide variant Progressive familial heart block type IB [RCV001070867] Chr19:49171604 [GRCh38]
Chr19:49674861 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1743+224G>A single nucleotide variant not provided [RCV001589588] Chr19:49183436 [GRCh38]
Chr19:49686693 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1744-306G>T single nucleotide variant not provided [RCV001694832] Chr19:49188335 [GRCh38]
Chr19:49691592 [GRCh37]
Chr19:19q13.33		 benign
NC_000019.10:g.(?_49166031)_(49172118_?)del deletion Progressive familial heart block type IB [RCV001031562] Chr19:49669288..49675375 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.449-74GT[8] microsatellite not provided [RCV001643288] Chr19:49168185..49168186 [GRCh38]
Chr19:49671442..49671443 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1151-247A>G single nucleotide variant not provided [RCV001679661] Chr19:49181102 [GRCh38]
Chr19:49684359 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2020-287A>G single nucleotide variant not provided [RCV001690790] Chr19:49189921 [GRCh38]
Chr19:49693178 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1264-126CCAT[11] microsatellite not provided [RCV001684075] Chr19:49182452..49182455 [GRCh38]
Chr19:49685709..49685712 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.338G>A (p.Arg113His) single nucleotide variant Cardiovascular phenotype [RCV002451481]|Progressive familial heart block type IB [RCV001216480]|Progressive familial heart block type IB [RCV002480714]|not provided [RCV001567753] Chr19:49167987 [GRCh38]
Chr19:49671244 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2858G>A (p.Arg953Lys) single nucleotide variant Cardiovascular phenotype [RCV005286350]|Progressive familial heart block type IB [RCV001223716] Chr19:49200690 [GRCh38]
Chr19:49703947 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.487G>A (p.Gly163Ser) single nucleotide variant Cardiovascular phenotype [RCV004033225]|Progressive familial heart block type IB [RCV001234013] Chr19:49168298 [GRCh38]
Chr19:49671555 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.298G>T (p.Ala100Ser) single nucleotide variant Cardiovascular phenotype [RCV002436881]|Progressive familial heart block type IB [RCV001227558] Chr19:49167947 [GRCh38]
Chr19:49671204 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3184C>A (p.Arg1062Ser) single nucleotide variant Cardiovascular phenotype [RCV004678909]|Progressive familial heart block type IB [RCV001046631] Chr19:49210261 [GRCh38]
Chr19:49713518 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1495C>T (p.Arg499Trp) single nucleotide variant Cardiovascular phenotype [RCV004032303]|Progressive familial heart block type IB [RCV001135903]|Progressive familial heart block type IB [RCV002482259]|not provided [RCV004590104] Chr19:49182809 [GRCh38]
Chr19:49686066 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2564G>T (p.Arg855Leu) single nucleotide variant Cardiovascular phenotype [RCV004994261]|Progressive familial heart block type IB [RCV001135990]|Progressive familial heart block type IB [RCV002497545] Chr19:49196793 [GRCh38]
Chr19:49700050 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1050G>A (p.Gln350=) single nucleotide variant Cardiovascular phenotype [RCV004034566]|Progressive familial heart block type IB [RCV001238008]|Progressive familial heart block type IB [RCV002491771] Chr19:49171769 [GRCh38]
Chr19:49675026 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1138G>A (p.Ala380Thr) single nucleotide variant Cardiovascular phenotype [RCV002320356]|Progressive familial heart block type IB [RCV001071309] Chr19:49172096 [GRCh38]
Chr19:49675353 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2778+8del deletion Progressive familial heart block type IB [RCV001001075] Chr19:49200440 [GRCh38]
Chr19:49703697 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1244G>A (p.Arg415Gln) single nucleotide variant Cardiovascular phenotype [RCV003284107]|Progressive familial heart block type IB [RCV001240254] Chr19:49181442 [GRCh38]
Chr19:49684699 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3237del (p.Phe1079fs) deletion Cardiovascular phenotype [RCV005286367]|Progressive familial heart block type IB [RCV001240454] Chr19:49210312 [GRCh38]
Chr19:49713569 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.255C>T (p.Arg85=) single nucleotide variant Progressive familial heart block type IB [RCV001213460]|not provided [RCV001760188] Chr19:49166203 [GRCh38]
Chr19:49669460 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:49640430-49703884)x3 copy number gain not provided [RCV001249236] Chr19:49640430..49703884 [GRCh37]
Chr19:19q13.33		 not provided
NM_017636.4(TRPM4):c.2474T>C (p.Leu825Pro) single nucleotide variant Progressive familial heart block type IB [RCV001132608] Chr19:49196703 [GRCh38]
Chr19:49699960 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2749G>C (p.Gly917Arg) single nucleotide variant Progressive familial heart block type IB [RCV001248263]|Progressive familial heart block type IB [RCV002480856] Chr19:49200403 [GRCh38]
Chr19:49703660 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1894C>G (p.Arg632Gly) single nucleotide variant Progressive familial heart block type IB [RCV001217291] Chr19:49188966 [GRCh38]
Chr19:49692223 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3215G>A (p.Arg1072Gln) single nucleotide variant Progressive familial heart block type IB [RCV001218317] Chr19:49210292 [GRCh38]
Chr19:49713549 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2563C>T (p.Arg855Cys) single nucleotide variant Progressive familial heart block type IB [RCV001226486] Chr19:49196792 [GRCh38]
Chr19:49700049 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2844G>A (p.Thr948=) single nucleotide variant Cardiovascular phenotype [RCV002436597]|Progressive familial heart block type IB [RCV001049999] Chr19:49200676 [GRCh38]
Chr19:49703933 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3184C>G (p.Arg1062Gly) single nucleotide variant Cardiovascular phenotype [RCV002320282]|Progressive familial heart block type IB [RCV001050865]|Progressive familial heart block type IB [RCV002497399]|not provided [RCV001776109] Chr19:49210261 [GRCh38]
Chr19:49713518 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2709G>A (p.Thr903=) single nucleotide variant Progressive familial heart block type IB [RCV001054411] Chr19:49200363 [GRCh38]
Chr19:49703620 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2116C>T (p.Arg706Cys) single nucleotide variant Cardiovascular phenotype [RCV002418530]|Progressive familial heart block type IB [RCV001063223]|Progressive familial heart block type IB [RCV002482075]|not provided [RCV001759825] Chr19:49190304 [GRCh38]
Chr19:49693561 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3224T>C (p.Leu1075Pro) single nucleotide variant Cardiovascular phenotype [RCV002320334]|Progressive familial heart block type IB [RCV001065996]|not provided [RCV005235517] Chr19:49210301 [GRCh38]
Chr19:49713558 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2330G>A (p.Gly777Asp) single nucleotide variant Cardiovascular phenotype [RCV002445396]|Progressive familial heart block type IB [RCV001132606]|Progressive familial heart block type IB [RCV002491400] Chr19:49196559 [GRCh38]
Chr19:49699816 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.*116G>C single nucleotide variant Progressive familial heart block type IB [RCV001132713] Chr19:49211614 [GRCh38]
Chr19:49714871 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3329-2A>G single nucleotide variant Progressive familial heart block type IB [RCV001205208]|not provided [RCV001815997] Chr19:49210708 [GRCh38]
Chr19:49713965 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1969C>A (p.Leu657Met) single nucleotide variant Progressive familial heart block type IB [RCV001217850] Chr19:49189041 [GRCh38]
Chr19:49692298 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.272T>C (p.Leu91Pro) single nucleotide variant Cardiovascular phenotype [RCV005298707]|Progressive familial heart block type IB [RCV001135788] Chr19:49167921 [GRCh38]
Chr19:49671178 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.*180G>A single nucleotide variant Progressive familial heart block type IB [RCV001136113] Chr19:49211678 [GRCh38]
Chr19:49714935 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3200G>T (p.Arg1067Leu) single nucleotide variant Cardiovascular phenotype [RCV002447144]|Progressive familial heart block type IB [RCV001228335] Chr19:49210277 [GRCh38]
Chr19:49713534 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2725A>G (p.Ile909Val) single nucleotide variant Progressive familial heart block type IB [RCV001228718] Chr19:49200379 [GRCh38]
Chr19:49703636 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1A>G (p.Met1Val) single nucleotide variant Progressive familial heart block type IB [RCV001134313] Chr19:49157867 [GRCh38]
Chr19:49661124 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.(?_49181339)_(49181471_?)del deletion Progressive familial heart block type IB [RCV001031277] Chr19:49684596..49684728 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.(?_49157857)_(49166225_?)del deletion Progressive familial heart block type IB [RCV001032208] Chr19:49661114..49669482 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1931G>A (p.Arg644His) single nucleotide variant not provided [RCV001090743] Chr19:49189003 [GRCh38]
Chr19:49692260 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.65C>T (p.Thr22Met) single nucleotide variant Progressive familial heart block type IB [RCV001043152] Chr19:49158232 [GRCh38]
Chr19:49661489 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3418A>T (p.Lys1140Ter) single nucleotide variant Progressive familial heart block type IB [RCV001253259] Chr19:49210799 [GRCh38]
Chr19:49714056 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_017636.4(TRPM4):c.1608+1G>C single nucleotide variant Progressive familial heart block type IB [RCV001253598] Chr19:49182923 [GRCh38]
Chr19:49686180 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1600G>C (p.Gly534Arg) single nucleotide variant Cardiovascular phenotype [RCV004679066]|Progressive familial heart block type IB [RCV001320331] Chr19:49182914 [GRCh38]
Chr19:49686171 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1958C>G (p.Thr653Ser) single nucleotide variant Cardiovascular phenotype [RCV002420751]|Progressive familial heart block type IB [RCV001348658]|not provided [RCV003234054] Chr19:49189030 [GRCh38]
Chr19:49692287 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.217G>A (p.Asp73Asn) single nucleotide variant Cardiovascular phenotype [RCV004035424]|Progressive familial heart block type IB [RCV001880123] Chr19:49166165 [GRCh38]
Chr19:49669422 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.216C>T (p.Thr72=) single nucleotide variant Cardiovascular phenotype [RCV003166583]|not specified [RCV001256814] Chr19:49166164 [GRCh38]
Chr19:49669421 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2806T>A (p.Phe936Ile) single nucleotide variant Cardiovascular phenotype [RCV003294296]|Progressive familial heart block type IB [RCV001324766] Chr19:49200638 [GRCh38]
Chr19:49703895 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2791TTC[2] (p.Phe933del) microsatellite Cardiovascular phenotype [RCV002438783]|Progressive familial heart block type IB [RCV001342172] Chr19:49200623..49200625 [GRCh38]
Chr19:49703880..49703882 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.735C>T (p.Gly245=) single nucleotide variant Progressive familial heart block type IB [RCV001325182]|Progressive familial heart block type IB [RCV002499639] Chr19:49168675 [GRCh38]
Chr19:49671932 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NC_000019.9:g.(?_49661114)_(49669482_?)del deletion Progressive familial heart block type IB [RCV001316438] Chr19:49661114..49669482 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2957C>A (p.Ala986Asp) single nucleotide variant Progressive familial heart block type IB [RCV001296945] Chr19:49201967 [GRCh38]
Chr19:49705224 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3568G>A (p.Ala1190Thr) single nucleotide variant Cardiovascular phenotype [RCV003169605]|Progressive familial heart block type IB [RCV001339741]|not provided [RCV001751665] Chr19:49211197 [GRCh38]
Chr19:49714454 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.290C>T (p.Thr97Met) single nucleotide variant Cardiovascular phenotype [RCV003166832]|Progressive familial heart block type IB [RCV001317753] Chr19:49167939 [GRCh38]
Chr19:49671196 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2704T>C (p.Phe902Leu) single nucleotide variant Progressive familial heart block type IB [RCV001313231] Chr19:49200358 [GRCh38]
Chr19:49703615 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2295dup (p.Arg766fs) duplication Cardiovascular phenotype [RCV002447354]|Progressive familial heart block type IB [RCV001320440]|not provided [RCV001569749] Chr19:49196518..49196519 [GRCh38]
Chr19:49699775..49699776 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.268-1G>A single nucleotide variant Cardiovascular phenotype [RCV002438703]|Progressive familial heart block type IB [RCV001314021] Chr19:49167916 [GRCh38]
Chr19:49671173 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.498T>A (p.Val166=) single nucleotide variant Cardiovascular phenotype [RCV002350609]|Progressive familial heart block type IB [RCV001326980] Chr19:49168309 [GRCh38]
Chr19:49671566 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3400C>T (p.Leu1134=) single nucleotide variant not provided [RCV001310425] Chr19:49210781 [GRCh38]
Chr19:49714038 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1035G>T (p.Glu345Asp) single nucleotide variant Cardiovascular phenotype [RCV004036414]|Progressive familial heart block type IB [RCV001343984] Chr19:49171754 [GRCh38]
Chr19:49675011 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2906G>A (p.Arg969His) single nucleotide variant Cardiovascular phenotype [RCV004035849]|Progressive familial heart block type IB [RCV001337928] Chr19:49200738 [GRCh38]
Chr19:49703995 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2944G>A (p.Asp982Asn) single nucleotide variant Cardiovascular phenotype [RCV003382502]|Progressive familial heart block type IB [RCV001297412]|not provided [RCV004778046] Chr19:49200776 [GRCh38]
Chr19:49704033 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.727C>T (p.Leu243=) single nucleotide variant Cardiovascular phenotype [RCV002384554]|Progressive familial heart block type IB [RCV001392139] Chr19:49168667 [GRCh38]
Chr19:49671924 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.9:g.(?_49705211)_(49705408_?)del deletion Progressive familial heart block type IB [RCV001305356] Chr19:49705211..49705408 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2954-83G>A single nucleotide variant not provided [RCV001538141] Chr19:49201881 [GRCh38]
Chr19:49705138 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2849_2850insACAC (p.Leu951fs) insertion Progressive familial heart block type IB [RCV002042805] Chr19:49200681..49200682 [GRCh38]
Chr19:49703938..49703939 [GRCh37]
Chr19:19q13.33		 pathogenic|uncertain significance
NM_017636.4(TRPM4):c.2915T>A (p.Leu972Gln) single nucleotide variant Progressive familial heart block type IB [RCV001368489]|Progressive familial heart block type IB [RCV002488144] Chr19:49200747 [GRCh38]
Chr19:49704004 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2583C>T (p.Ala861=) single nucleotide variant Cardiovascular phenotype [RCV002456689]|Progressive familial heart block type IB [RCV001422836]|not specified [RCV005405599] Chr19:49196812 [GRCh38]
Chr19:49700069 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.18G>A (p.Lys6=) single nucleotide variant Cardiovascular phenotype [RCV002413990]|Progressive familial heart block type IB [RCV001414303] Chr19:49157884 [GRCh38]
Chr19:49661141 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.575G>A (p.Gly192Asp) single nucleotide variant Progressive familial heart block type IB [RCV001369864] Chr19:49168386 [GRCh38]
Chr19:49671643 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2894G>A (p.Arg965His) single nucleotide variant Cardiovascular phenotype [RCV002437071]|Progressive familial heart block type IB [RCV001313027]|Progressive familial heart block type IB [RCV002476445]|not provided [RCV001560007] Chr19:49200726 [GRCh38]
Chr19:49703983 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2011G>C (p.Gly671Arg) single nucleotide variant Progressive familial heart block type IB [RCV001312610] Chr19:49189083 [GRCh38]
Chr19:49692340 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1144G>A (p.Val382Met) single nucleotide variant Progressive familial heart block type IB [RCV001371614] Chr19:49172102 [GRCh38]
Chr19:49675359 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1261C>T (p.Arg421Trp) single nucleotide variant Cardiovascular phenotype [RCV002413862]|Progressive familial heart block type IB [RCV001362649]|Progressive familial heart block type IB [RCV005394982] Chr19:49181459 [GRCh38]
Chr19:49684716 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2822dup (p.Val942fs) duplication Progressive familial heart block type IB [RCV001303931] Chr19:49200653..49200654 [GRCh38]
Chr19:49703910..49703911 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3062T>A (p.Val1021Glu) single nucleotide variant Cardiovascular phenotype [RCV002447439]|Progressive familial heart block type IB [RCV001351810]|Progressive familial heart block type IB [RCV002486455]|not provided [RCV005414602] Chr19:49202072 [GRCh38]
Chr19:49705329 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2341A>C (p.Thr781Pro) single nucleotide variant Cardiovascular phenotype [RCV004681155]|Progressive familial heart block type IB [RCV001373601]|not provided [RCV004770126] Chr19:49196570 [GRCh38]
Chr19:49699827 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.754C>T (p.Arg252Cys) single nucleotide variant Cardiovascular phenotype [RCV002395746]|Progressive familial heart block type IB [RCV001342064]|Progressive familial heart block type IB [RCV002476579]|not provided [RCV003332325] Chr19:49168694 [GRCh38]
Chr19:49671951 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.650C>T (p.Pro217Leu) single nucleotide variant Cardiovascular phenotype [RCV002368199]|Progressive familial heart block type IB [RCV001371231]|Progressive familial heart block type IB [RCV002499762] Chr19:49168590 [GRCh38]
Chr19:49671847 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2860_2861del (p.Pro954fs) deletion Progressive familial heart block type IB [RCV001336379] Chr19:49200692..49200693 [GRCh38]
Chr19:49703949..49703950 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_017636.4(TRPM4):c.1244G>C (p.Arg415Pro) single nucleotide variant Progressive familial heart block type IB [RCV001371717] Chr19:49181442 [GRCh38]
Chr19:49684699 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49684596)_(49694040_?)dup duplication Progressive familial heart block type IB [RCV001365092] Chr19:49684596..49694040 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1672C>T (p.Pro558Ser) single nucleotide variant Progressive familial heart block type IB [RCV001320333] Chr19:49183141 [GRCh38]
Chr19:49686398 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.294T>A (p.Asp98Glu) single nucleotide variant Cardiovascular phenotype [RCV002438812]|Progressive familial heart block type IB [RCV001349612] Chr19:49167943 [GRCh38]
Chr19:49671200 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1050+2T>G single nucleotide variant Progressive familial heart block type IB [RCV001341061] Chr19:49171771 [GRCh38]
Chr19:49675028 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1981G>C (p.Ala661Pro) single nucleotide variant Progressive familial heart block type IB [RCV001314197] Chr19:49189053 [GRCh38]
Chr19:49692310 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.13G>A (p.Glu5Lys) single nucleotide variant Cardiovascular phenotype [RCV003375202]|Progressive familial heart block type IB [RCV001307890] Chr19:49157879 [GRCh38]
Chr19:49661136 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1263+1G>A single nucleotide variant Cardiovascular phenotype [RCV002447414]|Progressive familial heart block type IB [RCV001344368]|not provided [RCV003169661] Chr19:49181462 [GRCh38]
Chr19:49684719 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3007C>T (p.Pro1003Ser) single nucleotide variant Progressive familial heart block type IB [RCV001373093] Chr19:49202017 [GRCh38]
Chr19:49705274 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2249C>G (p.Pro750Arg) single nucleotide variant Progressive familial heart block type IB [RCV001363789] Chr19:49196478 [GRCh38]
Chr19:49699735 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2778+1G>A single nucleotide variant Cardiovascular phenotype [RCV002438867]|Progressive familial heart block type IB [RCV001371039]|Progressive familial heart block type IB [RCV002493887] Chr19:49200433 [GRCh38]
Chr19:49703690 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1492C>A (p.Leu498Ile) single nucleotide variant Progressive familial heart block type IB [RCV001319760] Chr19:49182806 [GRCh38]
Chr19:49686063 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1934G>A (p.Arg645His) single nucleotide variant Cardiovascular phenotype [RCV003169854]|Progressive familial heart block type IB [RCV001366475]|not provided [RCV002276714] Chr19:49189006 [GRCh38]
Chr19:49692263 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.351G>C (p.Leu117=) single nucleotide variant Progressive familial heart block type IB [RCV001413733] Chr19:49168000 [GRCh38]
Chr19:49671257 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2857del (p.Arg953fs) deletion Progressive familial heart block type IB [RCV001336378] Chr19:49200689 [GRCh38]
Chr19:49703946 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_017636.4(TRPM4):c.2194G>A (p.Gly732Arg) single nucleotide variant Cardiovascular phenotype [RCV004037464]|Progressive familial heart block type IB [RCV001370255] Chr19:49190757 [GRCh38]
Chr19:49694014 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2766C>A (p.Ile922=) single nucleotide variant Cardiovascular phenotype [RCV003294186]|Progressive familial heart block type IB [RCV003770445]|not provided [RCV001813038] Chr19:49200420 [GRCh38]
Chr19:49703677 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1634C>A (p.Thr545Asn) single nucleotide variant Progressive familial heart block type IB [RCV001360447] Chr19:49183103 [GRCh38]
Chr19:49686360 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3050A>G (p.Asn1017Ser) single nucleotide variant Cardiovascular phenotype [RCV004036768]|Progressive familial heart block type IB [RCV001360518]|not provided [RCV004728669] Chr19:49202060 [GRCh38]
Chr19:49705317 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2086G>A (p.Ala696Thr) single nucleotide variant Cardiovascular phenotype [RCV002418976]|Progressive familial heart block type IB [RCV001325676] Chr19:49190274 [GRCh38]
Chr19:49693531 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1216G>A (p.Val406Met) single nucleotide variant Cardiovascular phenotype [RCV002357249]|Progressive familial heart block type IB [RCV001367759]|not provided [RCV004692651] Chr19:49181414 [GRCh38]
Chr19:49684671 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2953+5G>T single nucleotide variant Progressive familial heart block type IB [RCV001340742] Chr19:49200790 [GRCh38]
Chr19:49704047 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2932A>G (p.Ile978Val) single nucleotide variant Progressive familial heart block type IB [RCV001318750]|Progressive familial heart block type IB [RCV002486259] Chr19:49200764 [GRCh38]
Chr19:49704021 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.268-6C>T single nucleotide variant Progressive familial heart block type IB [RCV001413479] Chr19:49167911 [GRCh38]
Chr19:49671168 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2984C>T (p.Ser995Leu) single nucleotide variant Cardiovascular phenotype [RCV002438821]|Progressive familial heart block type IB [RCV001352517]|not provided [RCV003159204] Chr19:49201994 [GRCh38]
Chr19:49705251 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2642G>C (p.Cys881Ser) single nucleotide variant Progressive familial heart block type IB [RCV001360915] Chr19:49196871 [GRCh38]
Chr19:49700128 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2575T>C (p.Tyr859His) single nucleotide variant Progressive familial heart block type IB [RCV001360991] Chr19:49196804 [GRCh38]
Chr19:49700061 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.299C>A (p.Ala100Asp) single nucleotide variant Cardiovascular phenotype [RCV002437063]|Progressive familial heart block type IB [RCV001871764] Chr19:49167948 [GRCh38]
Chr19:49671205 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2249C>T (p.Pro750Leu) single nucleotide variant Cardiovascular phenotype [RCV002430123]|Progressive familial heart block type IB [RCV002070135] Chr19:49196478 [GRCh38]
Chr19:49699735 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2378T>G (p.Phe793Cys) single nucleotide variant not provided [RCV001358479] Chr19:49196607 [GRCh38]
Chr19:49699864 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3351del (p.Glu1118fs) deletion Progressive familial heart block type IB [RCV001370585] Chr19:49210731 [GRCh38]
Chr19:49713988 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2886C>A (p.Ile962=) single nucleotide variant Progressive familial heart block type IB [RCV001399476] Chr19:49200718 [GRCh38]
Chr19:49703975 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1050+10T>A single nucleotide variant Progressive familial heart block type IB [RCV001492454] Chr19:49171779 [GRCh38]
Chr19:49675036 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.9:g.(?_49661114)_(49675375_?)dup duplication Progressive familial heart block type IB [RCV001488310] Chr19:49661114..49675375 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2715G>A (p.Arg905=) single nucleotide variant Progressive familial heart block type IB [RCV001476582] Chr19:49200369 [GRCh38]
Chr19:49703626 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3339T>C (p.Leu1113=) single nucleotide variant Progressive familial heart block type IB [RCV001475818] Chr19:49210720 [GRCh38]
Chr19:49713977 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1881T>C (p.Phe627=) single nucleotide variant Cardiovascular phenotype [RCV002414007]|Progressive familial heart block type IB [RCV001423750] Chr19:49188953 [GRCh38]
Chr19:49692210 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2733G>C (p.Thr911=) single nucleotide variant Cardiovascular phenotype [RCV004681178]|Progressive familial heart block type IB [RCV001435086] Chr19:49200387 [GRCh38]
Chr19:49703644 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.159C>T (p.Phe53=) single nucleotide variant Cardiovascular phenotype [RCV002405052]|Progressive familial heart block type IB [RCV001446549] Chr19:49166107 [GRCh38]
Chr19:49669364 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1150+9T>A single nucleotide variant Progressive familial heart block type IB [RCV001403475] Chr19:49172117 [GRCh38]
Chr19:49675374 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2502C>G (p.Ser834Arg) single nucleotide variant Progressive familial heart block type IB [RCV001416087] Chr19:49196731 [GRCh38]
Chr19:49699988 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1569C>T (p.Gly523=) single nucleotide variant Cardiovascular phenotype [RCV003375303]|Progressive familial heart block type IB [RCV001445317] Chr19:49182883 [GRCh38]
Chr19:49686140 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3570C>G (p.Ala1190=) single nucleotide variant Cardiovascular phenotype [RCV002456626]|Progressive familial heart block type IB [RCV001398790] Chr19:49211199 [GRCh38]
Chr19:49714456 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1263+94G>A single nucleotide variant not provided [RCV001681401] Chr19:49181555 [GRCh38]
Chr19:49684812 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1264-341T>C single nucleotide variant not provided [RCV001539683] Chr19:49182237 [GRCh38]
Chr19:49685494 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1167G>A (p.Glu389=) single nucleotide variant Cardiovascular phenotype [RCV004995842]|Progressive familial heart block type IB [RCV001457227] Chr19:49181365 [GRCh38]
Chr19:49684622 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.796+274AAT[9] microsatellite not provided [RCV001588450] Chr19:49169009..49169010 [GRCh38]
Chr19:49672266..49672267 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.267+105A>G single nucleotide variant not provided [RCV001669118] Chr19:49166320 [GRCh38]
Chr19:49669577 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1264-334_1264-333insTGTC insertion not provided [RCV001717431] Chr19:49182242..49182243 [GRCh38]
Chr19:49685499..49685500 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.613-5C>T single nucleotide variant Cardiovascular phenotype [RCV002359143]|Progressive familial heart block type IB [RCV001516010] Chr19:49168548 [GRCh38]
Chr19:49671805 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_017636.4(TRPM4):c.594C>T (p.Asp198=) single nucleotide variant Cardiovascular phenotype [RCV003298793]|Progressive familial heart block type IB [RCV001459137] Chr19:49168405 [GRCh38]
Chr19:49671662 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1264-223TCCA[11] microsatellite not provided [RCV001585084] Chr19:49182354..49182355 [GRCh38]
Chr19:49685611..49685612 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.723C>T (p.Gly241=) single nucleotide variant Cardiovascular phenotype [RCV002377792]|Progressive familial heart block type IB [RCV001467460] Chr19:49168663 [GRCh38]
Chr19:49671920 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.462C>T (p.Val154=) single nucleotide variant Progressive familial heart block type IB [RCV001501606] Chr19:49168273 [GRCh38]
Chr19:49671530 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3282G>A (p.Arg1094=) single nucleotide variant Progressive familial heart block type IB [RCV001457582] Chr19:49210359 [GRCh38]
Chr19:49713616 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2937C>G (p.Pro979=) single nucleotide variant Cardiovascular phenotype [RCV002439084]|Progressive familial heart block type IB [RCV001458586]|not provided [RCV001580596] Chr19:49200769 [GRCh38]
Chr19:49704026 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1953T>C (p.Asp651=) single nucleotide variant Cardiovascular phenotype [RCV002421160]|Progressive familial heart block type IB [RCV001506387] Chr19:49189025 [GRCh38]
Chr19:49692282 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2838G>C (p.Val946=) single nucleotide variant Cardiovascular phenotype [RCV002439111]|Progressive familial heart block type IB [RCV001467596] Chr19:49200670 [GRCh38]
Chr19:49703927 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2645+9C>T single nucleotide variant Progressive familial heart block type IB [RCV001459144] Chr19:49196883 [GRCh38]
Chr19:49700140 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.786G>A (p.Thr262=) single nucleotide variant Cardiovascular phenotype [RCV002414172]|Progressive familial heart block type IB [RCV001483433] Chr19:49168726 [GRCh38]
Chr19:49671983 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2446C>T (p.Leu816=) single nucleotide variant Progressive familial heart block type IB [RCV001423618] Chr19:49196675 [GRCh38]
Chr19:49699932 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.93-4C>A single nucleotide variant Cardiovascular phenotype [RCV002377873]|Progressive familial heart block type IB [RCV001499466] Chr19:49166037 [GRCh38]
Chr19:49669294 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3534+9T>C single nucleotide variant Progressive familial heart block type IB [RCV001397700] Chr19:49211096 [GRCh38]
Chr19:49714353 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1365G>C (p.Leu455=) single nucleotide variant Progressive familial heart block type IB [RCV001459334] Chr19:49182679 [GRCh38]
Chr19:49685936 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2887C>T (p.Leu963=) single nucleotide variant Cardiovascular phenotype [RCV002438975]|Progressive familial heart block type IB [RCV001418355] Chr19:49200719 [GRCh38]
Chr19:49703976 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.885G>T (p.Gln295His) single nucleotide variant Cardiovascular phenotype [RCV002377681]|Progressive familial heart block type IB [RCV001426408]|not provided [RCV001558690] Chr19:49171604 [GRCh38]
Chr19:49674861 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2436C>T (p.Ser812=) single nucleotide variant Cardiovascular phenotype [RCV004037195]|Progressive familial heart block type IB [RCV001479535] Chr19:49196665 [GRCh38]
Chr19:49699922 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.165A>G (p.Ala55=) single nucleotide variant Cardiovascular phenotype [RCV002396171]|Progressive familial heart block type IB [RCV001489558] Chr19:49166113 [GRCh38]
Chr19:49669370 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1073A>C (p.Lys358Thr) single nucleotide variant Progressive familial heart block type IB [RCV003109215] Chr19:49172031 [GRCh38]
Chr19:49675288 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2614C>G (p.Leu872Val) single nucleotide variant not provided [RCV001755410] Chr19:49196843 [GRCh38]
Chr19:49700100 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1421G>A (p.Arg474His) single nucleotide variant Progressive familial heart block type IB [RCV002300586]|not provided [RCV001755613] Chr19:49182735 [GRCh38]
Chr19:49685992 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.554C>T (p.Ala185Val) single nucleotide variant Cardiovascular phenotype [RCV004299407] Chr19:49168365 [GRCh38]
Chr19:49671622 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2393C>T (p.Ser798Leu) single nucleotide variant Progressive familial heart block type IB [RCV003502605]|not provided [RCV001777043] Chr19:49196622 [GRCh38]
Chr19:49699879 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1515T>A (p.His505Gln) single nucleotide variant Cardiovascular phenotype [RCV002388660]|not provided [RCV001768414] Chr19:49182829 [GRCh38]
Chr19:49686086 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2738A>G (p.Asn913Ser) single nucleotide variant Cardiovascular phenotype [RCV002440864]|Progressive familial heart block type IB [RCV002477997]|Progressive familial heart block type IB [RCV003502603]|not provided [RCV001766255] Chr19:49200392 [GRCh38]
Chr19:49703649 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.477C>A (p.His159Gln) single nucleotide variant not provided [RCV001774910] Chr19:49168288 [GRCh38]
Chr19:49671545 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2820G>T (p.Trp940Cys) single nucleotide variant Cardiovascular phenotype [RCV002440869]|Progressive familial heart block type IB [RCV001885130]|TRPM4-related disorder [RCV004733379]|not provided [RCV001776411] Chr19:49200652 [GRCh38]
Chr19:49703909 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1568G>T (p.Gly523Val) single nucleotide variant not provided [RCV001776514] Chr19:49182882 [GRCh38]
Chr19:49686139 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1679_1680delinsAA (p.Ser560Lys) indel Progressive familial heart block type IB [RCV001868749]|not provided [RCV001768428] Chr19:49183148..49183149 [GRCh38]
Chr19:49686405..49686406 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1603G>T (p.Glu535Ter) single nucleotide variant Progressive familial heart block type IB [RCV002488615]|not provided [RCV001766071] Chr19:49182917 [GRCh38]
Chr19:49686174 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.776A>G (p.Gln259Arg) single nucleotide variant Progressive familial heart block type IB [RCV005095061]|not provided [RCV001766061] Chr19:49168716 [GRCh38]
Chr19:49671973 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.893G>A (p.Cys298Tyr) single nucleotide variant Progressive familial heart block type IB [RCV001868697]|not provided [RCV001758876] Chr19:49171612 [GRCh38]
Chr19:49674869 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.994C>T (p.Arg332Ter) single nucleotide variant Cardiovascular phenotype [RCV002386544]|Progressive familial heart block type IB [RCV002489815]|Progressive familial heart block type IB [RCV003502604]|not provided [RCV001759106] Chr19:49171713 [GRCh38]
Chr19:49674970 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.749G>A (p.Arg250His) single nucleotide variant Cardiovascular phenotype [RCV002388667]|Progressive familial heart block type IB [RCV002503259]|Progressive familial heart block type IB [RCV003502607]|not provided [RCV001779740] Chr19:49168689 [GRCh38]
Chr19:49671946 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3412A>G (p.Arg1138Gly) single nucleotide variant not provided [RCV001758904] Chr19:49210793 [GRCh38]
Chr19:49714050 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2992G>A (p.Gly998Ser) single nucleotide variant Cardiovascular phenotype [RCV002440879]|Progressive familial heart block type IB [RCV002034652]|Progressive familial heart block type IB [RCV002503280]|not provided [RCV001795498] Chr19:49202002 [GRCh38]
Chr19:49705259 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3252C>G (p.His1084Gln) single nucleotide variant Cardiovascular phenotype [RCV004996003]|not provided [RCV001757441] Chr19:49210329 [GRCh38]
Chr19:49713586 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1192C>T (p.Arg398Cys) single nucleotide variant Progressive familial heart block type IB [RCV005095055]|not provided [RCV001757329] Chr19:49181390 [GRCh38]
Chr19:49684647 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.377G>C (p.Gly126Ala) single nucleotide variant Progressive familial heart block type IB [RCV005095108]|not provided [RCV001776797] Chr19:49168026 [GRCh38]
Chr19:49671283 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1476del (p.Gly494fs) deletion not provided [RCV001757605] Chr19:49182787 [GRCh38]
Chr19:49686044 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.268-11T>A single nucleotide variant not provided [RCV001776998] Chr19:49167906 [GRCh38]
Chr19:49671163 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.916G>A (p.Gly306Arg) single nucleotide variant not provided [RCV001757407] Chr19:49171635 [GRCh38]
Chr19:49674892 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1212C>A (p.Asn404Lys) single nucleotide variant Cardiovascular phenotype [RCV002359252]|Progressive familial heart block type IB [RCV002482297]|Progressive familial heart block type IB [RCV002541082]|not provided [RCV001776895] Chr19:49181410 [GRCh38]
Chr19:49684667 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.722G>T (p.Gly241Val) single nucleotide variant Cardiovascular phenotype [RCV002370305]|not provided [RCV001759115] Chr19:49168662 [GRCh38]
Chr19:49671919 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1944C>G (p.Leu648=) single nucleotide variant not provided [RCV001811759] Chr19:49189016 [GRCh38]
Chr19:49692273 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1943T>C (p.Leu648Pro) single nucleotide variant Progressive familial heart block type IB [RCV001889390] Chr19:49189015 [GRCh38]
Chr19:49692272 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2161G>A (p.Glu721Lys) single nucleotide variant Progressive familial heart block type IB [RCV001988782] Chr19:49190724 [GRCh38]
Chr19:49693981 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2374C>G (p.Leu792Val) single nucleotide variant Cardiovascular phenotype [RCV005301069]|Progressive familial heart block type IB [RCV002022483] Chr19:49196603 [GRCh38]
Chr19:49699860 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.395C>G (p.Thr132Ser) single nucleotide variant Cardiovascular phenotype [RCV002352604]|Progressive familial heart block type IB [RCV001950028] Chr19:49168044 [GRCh38]
Chr19:49671301 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1559_1560del (p.Pro520fs) deletion Progressive familial heart block type IB [RCV001966059] Chr19:49182871..49182872 [GRCh38]
Chr19:49686128..49686129 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.8T>C (p.Val3Ala) single nucleotide variant Progressive familial heart block type IB [RCV001988119] Chr19:49157874 [GRCh38]
Chr19:49661131 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1263+2T>G single nucleotide variant Progressive familial heart block type IB [RCV001874896]|Progressive familial heart block type IB [RCV002490069] Chr19:49181463 [GRCh38]
Chr19:49684720 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.99C>T (p.Thr33=) single nucleotide variant Cardiovascular phenotype [RCV004046096]|Progressive familial heart block type IB [RCV002025774] Chr19:49166047 [GRCh38]
Chr19:49669304 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.24G>A (p.Gln8=) single nucleotide variant Progressive familial heart block type IB [RCV002025812]|Progressive familial heart block type IB [RCV002486649] Chr19:49157890 [GRCh38]
Chr19:49661147 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3027C>T (p.Gly1009=) single nucleotide variant Progressive familial heart block type IB [RCV001889746] Chr19:49202037 [GRCh38]
Chr19:49705294 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.431G>A (p.Arg144Gln) single nucleotide variant Cardiovascular phenotype [RCV005298925]|Progressive familial heart block type IB [RCV001912791]|not provided [RCV003136275] Chr19:49168080 [GRCh38]
Chr19:49671337 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.652G>C (p.Glu218Gln) single nucleotide variant Cardiovascular phenotype [RCV004041318]|Progressive familial heart block type IB [RCV001895862] Chr19:49168592 [GRCh38]
Chr19:49671849 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1010G>T (p.Arg337Leu) single nucleotide variant Progressive familial heart block type IB [RCV001970698] Chr19:49171729 [GRCh38]
Chr19:49674986 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3190C>G (p.Arg1064Gly) single nucleotide variant Cardiovascular phenotype [RCV004990530]|Progressive familial heart block type IB [RCV002025313] Chr19:49210267 [GRCh38]
Chr19:49713524 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3607G>A (p.Gly1203Arg) single nucleotide variant Cardiovascular phenotype [RCV002458820]|Progressive familial heart block type IB [RCV001929111]|Progressive familial heart block type IB [RCV002503621] Chr19:49211236 [GRCh38]
Chr19:49714493 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.434C>T (p.Ala145Val) single nucleotide variant Cardiovascular phenotype [RCV004046830]|Progressive familial heart block type IB [RCV002020943]|Progressive familial heart block type IB [RCV002492376]|not provided [RCV002290840] Chr19:49168083 [GRCh38]
Chr19:49671340 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2981C>T (p.Ser994Leu) single nucleotide variant Cardiovascular phenotype [RCV002441051]|Progressive familial heart block type IB [RCV001929301]|Progressive familial heart block type IB [RCV002484594] Chr19:49201991 [GRCh38]
Chr19:49705248 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.845AGA[1] (p.Lys283del) microsatellite Progressive familial heart block type IB [RCV001914956]|Progressive familial heart block type IB [RCV002503466] Chr19:49171405..49171407 [GRCh38]
Chr19:49674662..49674664 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1494_1520del (p.Pro500_Arg508del) deletion Progressive familial heart block type IB [RCV001863302] Chr19:49182805..49182831 [GRCh38]
Chr19:49686062..49686088 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1400C>G (p.Ala467Gly) single nucleotide variant Cardiovascular phenotype [RCV004039634]|Progressive familial heart block type IB [RCV001863915] Chr19:49182714 [GRCh38]
Chr19:49685971 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2896G>A (p.Val966Ile) single nucleotide variant Progressive familial heart block type IB [RCV001914827] Chr19:49200728 [GRCh38]
Chr19:49703985 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3256C>G (p.Arg1086Gly) single nucleotide variant Cardiovascular phenotype [RCV002324443]|Progressive familial heart block type IB [RCV002003356] Chr19:49210333 [GRCh38]
Chr19:49713590 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2849G>A (p.Gly950Glu) single nucleotide variant Progressive familial heart block type IB [RCV001912349] Chr19:49200681 [GRCh38]
Chr19:49703938 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1374G>T (p.Met458Ile) single nucleotide variant Cardiovascular phenotype [RCV002386793]|Progressive familial heart block type IB [RCV001985284] Chr19:49182688 [GRCh38]
Chr19:49685945 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2733G>A (p.Thr911=) single nucleotide variant Cardiovascular phenotype [RCV002441121]|Progressive familial heart block type IB [RCV001966297]|Progressive familial heart block type IB [RCV002497906] Chr19:49200387 [GRCh38]
Chr19:49703644 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1376G>T (p.Arg459Leu) single nucleotide variant Progressive familial heart block type IB [RCV001968255] Chr19:49182690 [GRCh38]
Chr19:49685947 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2428C>T (p.Pro810Ser) single nucleotide variant Cardiovascular phenotype [RCV005301018]|Progressive familial heart block type IB [RCV001926639] Chr19:49196657 [GRCh38]
Chr19:49699914 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1397C>T (p.Ala466Val) single nucleotide variant Cardiovascular phenotype [RCV004043864]|Progressive familial heart block type IB [RCV002002228] Chr19:49182711 [GRCh38]
Chr19:49685968 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3226G>A (p.Ala1076Thr) single nucleotide variant Cardiovascular phenotype [RCV002324274]|Progressive familial heart block type IB [RCV001892018] Chr19:49210303 [GRCh38]
Chr19:49713560 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2446C>A (p.Leu816Met) single nucleotide variant Cardiovascular phenotype [RCV002458968]|Progressive familial heart block type IB [RCV002042483] Chr19:49196675 [GRCh38]
Chr19:49699932 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.920C>T (p.Ala307Val) single nucleotide variant Cardiovascular phenotype [RCV003164286]|Progressive familial heart block type IB [RCV001890364] Chr19:49171639 [GRCh38]
Chr19:49674896 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3026G>A (p.Gly1009Asp) single nucleotide variant Cardiovascular phenotype [RCV002440968]|Progressive familial heart block type IB [RCV001890258] Chr19:49202036 [GRCh38]
Chr19:49705293 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3292A>G (p.Ser1098Gly) single nucleotide variant Progressive familial heart block type IB [RCV002021293] Chr19:49210369 [GRCh38]
Chr19:49713626 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1789C>T (p.Arg597Trp) single nucleotide variant Progressive familial heart block type IB [RCV002039762]|not provided [RCV004591596] Chr19:49188686 [GRCh38]
Chr19:49691943 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2700G>A (p.Met900Ile) single nucleotide variant Progressive familial heart block type IB [RCV002003381] Chr19:49200354 [GRCh38]
Chr19:49703611 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2879C>T (p.Pro960Leu) single nucleotide variant Progressive familial heart block type IB [RCV002042940] Chr19:49200711 [GRCh38]
Chr19:49703968 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.184G>A (p.Asp62Asn) single nucleotide variant Cardiovascular phenotype [RCV002407010]|Progressive familial heart block type IB [RCV001889640] Chr19:49166132 [GRCh38]
Chr19:49669389 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3422G>A (p.Arg1141Gln) single nucleotide variant Cardiovascular phenotype [RCV004043410]|Progressive familial heart block type IB [RCV001945134] Chr19:49210803 [GRCh38]
Chr19:49714060 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1449C>G (p.Ser483Arg) single nucleotide variant Progressive familial heart block type IB [RCV001966396] Chr19:49182763 [GRCh38]
Chr19:49686020 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2893C>T (p.Arg965Cys) single nucleotide variant Progressive familial heart block type IB [RCV001947992] Chr19:49200725 [GRCh38]
Chr19:49703982 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1051-8T>C single nucleotide variant Progressive familial heart block type IB [RCV002006012] Chr19:49172001 [GRCh38]
Chr19:49675258 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3226del (p.Ala1076fs) deletion Progressive familial heart block type IB [RCV001927532] Chr19:49210302 [GRCh38]
Chr19:49713559 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.969T>A (p.Ser323Arg) single nucleotide variant Progressive familial heart block type IB [RCV001872730] Chr19:49171688 [GRCh38]
Chr19:49674945 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1613A>G (p.Tyr538Cys) single nucleotide variant Progressive familial heart block type IB [RCV001965138] Chr19:49183082 [GRCh38]
Chr19:49686339 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2787C>A (p.Asp929Glu) single nucleotide variant Progressive familial heart block type IB [RCV002040979] Chr19:49200619 [GRCh38]
Chr19:49703876 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1895G>A (p.Arg632His) single nucleotide variant Progressive familial heart block type IB [RCV002002802] Chr19:49188967 [GRCh38]
Chr19:49692224 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1885G>A (p.Glu629Lys) single nucleotide variant Cardiovascular phenotype [RCV002407193]|Progressive familial heart block type IB [RCV001968534]|Progressive familial heart block type IB [RCV002507711] Chr19:49188957 [GRCh38]
Chr19:49692214 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.987C>T (p.Gly329=) single nucleotide variant Cardiovascular phenotype [RCV002386876]|Progressive familial heart block type IB [RCV002042614] Chr19:49171706 [GRCh38]
Chr19:49674963 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2444T>A (p.Leu815Gln) single nucleotide variant Progressive familial heart block type IB [RCV001891076] Chr19:49196673 [GRCh38]
Chr19:49699930 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2294G>A (p.Gly765Glu) single nucleotide variant Progressive familial heart block type IB [RCV001964673] Chr19:49196523 [GRCh38]
Chr19:49699780 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1915G>A (p.Ala639Thr) single nucleotide variant Progressive familial heart block type IB [RCV001889616] Chr19:49188987 [GRCh38]
Chr19:49692244 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.386T>A (p.Val129Asp) single nucleotide variant Progressive familial heart block type IB [RCV001927860] Chr19:49168035 [GRCh38]
Chr19:49671292 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.416G>A (p.Arg139His) single nucleotide variant Cardiovascular phenotype [RCV002331618]|Progressive familial heart block type IB [RCV002040560]|Progressive familial heart block type IB [RCV002498038]|not provided [RCV004721005] Chr19:49168065 [GRCh38]
Chr19:49671322 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1874-19A>G single nucleotide variant Progressive familial heart block type IB [RCV001968316] Chr19:49188927 [GRCh38]
Chr19:49692184 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1160G>A (p.Ser387Asn) single nucleotide variant Cardiovascular phenotype [RCV002370628]|Progressive familial heart block type IB [RCV001966602] Chr19:49181358 [GRCh38]
Chr19:49684615 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1609-12T>G single nucleotide variant Progressive familial heart block type IB [RCV001979839] Chr19:49183066 [GRCh38]
Chr19:49686323 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.905C>T (p.Ala302Val) single nucleotide variant Progressive familial heart block type IB [RCV002027021] Chr19:49171624 [GRCh38]
Chr19:49674881 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2831A>G (p.Tyr944Cys) single nucleotide variant Progressive familial heart block type IB [RCV001888115] Chr19:49200663 [GRCh38]
Chr19:49703920 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1481del (p.Gly494fs) deletion Progressive familial heart block type IB [RCV001936851] Chr19:49182791 [GRCh38]
Chr19:49686048 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.697T>C (p.Phe233Leu) single nucleotide variant Cardiovascular phenotype [RCV003161304]|Progressive familial heart block type IB [RCV002036132] Chr19:49168637 [GRCh38]
Chr19:49671894 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.433G>T (p.Ala145Ser) single nucleotide variant Cardiovascular phenotype [RCV004046186]|Progressive familial heart block type IB [RCV002038181] Chr19:49168082 [GRCh38]
Chr19:49671339 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2216C>T (p.Ala739Val) single nucleotide variant Cardiovascular phenotype [RCV002425250]|Progressive familial heart block type IB [RCV001940439] Chr19:49196445 [GRCh38]
Chr19:49699702 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2019+5G>A single nucleotide variant Cardiovascular phenotype [RCV002423091]|Progressive familial heart block type IB [RCV001944220] Chr19:49189096 [GRCh38]
Chr19:49692353 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2167G>C (p.Glu723Gln) single nucleotide variant Progressive familial heart block type IB [RCV002037068]|not provided [RCV004694168] Chr19:49190730 [GRCh38]
Chr19:49693987 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1480G>A (p.Gly494Arg) single nucleotide variant Cardiovascular phenotype [RCV004044828]|Progressive familial heart block type IB [RCV002031298] Chr19:49182794 [GRCh38]
Chr19:49686051 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.962C>T (p.Pro321Leu) single nucleotide variant Progressive familial heart block type IB [RCV001888574] Chr19:49171681 [GRCh38]
Chr19:49674938 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.965G>A (p.Gly322Glu) single nucleotide variant Cardiovascular phenotype [RCV002386868]|Progressive familial heart block type IB [RCV002035521] Chr19:49171684 [GRCh38]
Chr19:49674941 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.10C>T (p.Pro4Ser) single nucleotide variant Progressive familial heart block type IB [RCV002036852] Chr19:49157876 [GRCh38]
Chr19:49661133 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2497C>G (p.Leu833Val) single nucleotide variant Cardiovascular phenotype [RCV002425406]|Progressive familial heart block type IB [RCV001999546] Chr19:49196726 [GRCh38]
Chr19:49699983 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.69C>G (p.Phe23Leu) single nucleotide variant Progressive familial heart block type IB [RCV002012074] Chr19:49158236 [GRCh38]
Chr19:49661493 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3367_3368del (p.Thr1123fs) deletion Progressive familial heart block type IB [RCV002037273] Chr19:49210748..49210749 [GRCh38]
Chr19:49714005..49714006 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1608+25_1608+26insAGGGGGG microsatellite Progressive familial heart block type IB [RCV001956422] Chr19:49182941..49182942 [GRCh38]
Chr19:49686198..49686199 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3387G>C (p.Lys1129Asn) single nucleotide variant Progressive familial heart block type IB [RCV001962130] Chr19:49210768 [GRCh38]
Chr19:49714025 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3629C>G (p.Pro1210Arg) single nucleotide variant Progressive familial heart block type IB [RCV002031663] Chr19:49211258 [GRCh38]
Chr19:49714515 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.172G>A (p.Val58Met) single nucleotide variant Progressive familial heart block type IB [RCV002038336] Chr19:49166120 [GRCh38]
Chr19:49669377 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1840G>T (p.Asp614Tyr) single nucleotide variant Progressive familial heart block type IB [RCV001936025] Chr19:49188737 [GRCh38]
Chr19:49691994 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1822G>A (p.Glu608Lys) single nucleotide variant Progressive familial heart block type IB [RCV001936067] Chr19:49188719 [GRCh38]
Chr19:49691976 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2285G>C (p.Arg762Pro) single nucleotide variant Progressive familial heart block type IB [RCV002012664] Chr19:49196514 [GRCh38]
Chr19:49699771 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2126C>T (p.Thr709Ile) single nucleotide variant Progressive familial heart block type IB [RCV001960409]|not provided [RCV002562847] Chr19:49190314 [GRCh38]
Chr19:49693571 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1391A>G (p.Tyr464Cys) single nucleotide variant Cardiovascular phenotype [RCV002388845]|Progressive familial heart block type IB [RCV001943803]|not provided [RCV002290801] Chr19:49182705 [GRCh38]
Chr19:49685962 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1395C>A (p.Ser465Arg) single nucleotide variant Progressive familial heart block type IB [RCV002034444] Chr19:49182709 [GRCh38]
Chr19:49685966 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1894C>T (p.Arg632Cys) single nucleotide variant Cardiovascular phenotype [RCV004043711]|Progressive familial heart block type IB [RCV001958185] Chr19:49188966 [GRCh38]
Chr19:49692223 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2671G>C (p.Gly891Arg) single nucleotide variant Progressive familial heart block type IB [RCV001952937] Chr19:49200325 [GRCh38]
Chr19:49703582 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2311C>T (p.Arg771Cys) single nucleotide variant Progressive familial heart block type IB [RCV001922408]|not provided [RCV004774517] Chr19:49196540 [GRCh38]
Chr19:49699797 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2734G>A (p.Val912Ile) single nucleotide variant Cardiovascular phenotype [RCV003164097]|Progressive familial heart block type IB [RCV001878685] Chr19:49200388 [GRCh38]
Chr19:49703645 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1612T>C (p.Tyr538His) single nucleotide variant Cardiovascular phenotype [RCV002398003]|Progressive familial heart block type IB [RCV001989745] Chr19:49183081 [GRCh38]
Chr19:49686338 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1070G>A (p.Arg357Gln) single nucleotide variant Cardiovascular phenotype [RCV003170361]|Progressive familial heart block type IB [RCV001994430]|not provided [RCV003227055] Chr19:49172028 [GRCh38]
Chr19:49675285 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3145A>G (p.Lys1049Glu) single nucleotide variant Progressive familial heart block type IB [RCV001933994] Chr19:49210222 [GRCh38]
Chr19:49713479 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.692C>G (p.Ala231Gly) single nucleotide variant Progressive familial heart block type IB [RCV002016864] Chr19:49168632 [GRCh38]
Chr19:49671889 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1993_1999del (p.Ala665fs) deletion Progressive familial heart block type IB [RCV001933811]|Progressive familial heart block type IB [RCV002507599] Chr19:49189064..49189070 [GRCh38]
Chr19:49692321..49692327 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1658_1659insAG (p.Leu554fs) insertion Progressive familial heart block type IB [RCV001976933] Chr19:49183126..49183127 [GRCh38]
Chr19:49686383..49686384 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3339_3342del (p.Ser1114fs) deletion Cardiovascular phenotype [RCV003303366]|Progressive familial heart block type IB [RCV001937695]|Progressive familial heart block type IB [RCV002507020] Chr19:49210718..49210721 [GRCh38]
Chr19:49713975..49713978 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3419A>T (p.Lys1140Met) single nucleotide variant Cardiovascular phenotype [RCV003375447]|Progressive familial heart block type IB [RCV001916878] Chr19:49210800 [GRCh38]
Chr19:49714057 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2560C>G (p.Gln854Glu) single nucleotide variant Progressive familial heart block type IB [RCV002013138] Chr19:49196789 [GRCh38]
Chr19:49700046 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2210+6T>C single nucleotide variant Progressive familial heart block type IB [RCV001990238] Chr19:49190779 [GRCh38]
Chr19:49694036 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2362G>A (p.Val788Ile) single nucleotide variant Progressive familial heart block type IB [RCV001900745] Chr19:49196591 [GRCh38]
Chr19:49699848 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1127T>C (p.Ile376Thr) single nucleotide variant Cardiovascular phenotype [RCV003303498]|Progressive familial heart block type IB [RCV001950888] Chr19:49172085 [GRCh38]
Chr19:49675342 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_017636.4(TRPM4):c.1862G>T (p.Gly621Val) single nucleotide variant Progressive familial heart block type IB [RCV002009675] Chr19:49188759 [GRCh38]
Chr19:49692016 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2117G>A (p.Arg706His) single nucleotide variant Cardiovascular phenotype [RCV002423051]|Progressive familial heart block type IB [RCV001952337] Chr19:49190305 [GRCh38]
Chr19:49693562 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1744G>T (p.Gly582Cys) single nucleotide variant Progressive familial heart block type IB [RCV001931747] Chr19:49188641 [GRCh38]
Chr19:49691898 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49519325)_(50366015_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV002030046] Chr19:49519325..50366015 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1487C>G (p.Ala496Gly) single nucleotide variant Progressive familial heart block type IB [RCV001935504] Chr19:49182801 [GRCh38]
Chr19:49686058 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2713C>T (p.Arg905Trp) single nucleotide variant Progressive familial heart block type IB [RCV001902263]|not provided [RCV002224100] Chr19:49200367 [GRCh38]
Chr19:49703624 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2020-7C>A single nucleotide variant Progressive familial heart block type IB [RCV001978235] Chr19:49190201 [GRCh38]
Chr19:49693458 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1940C>T (p.Pro647Leu) single nucleotide variant Cardiovascular phenotype [RCV002406912]|Progressive familial heart block type IB [RCV002030156] Chr19:49189012 [GRCh38]
Chr19:49692269 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2645+4_2645+7del deletion Progressive familial heart block type IB [RCV001957415] Chr19:49196875..49196878 [GRCh38]
Chr19:49700132..49700135 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.38A>G (p.Lys13Arg) single nucleotide variant Cardiovascular phenotype [RCV003303336]|Progressive familial heart block type IB [RCV001922819] Chr19:49158205 [GRCh38]
Chr19:49661462 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1553_1555dup (p.Arg518_Tyr519insTrp) duplication Progressive familial heart block type IB [RCV001904142] Chr19:49182866..49182867 [GRCh38]
Chr19:49686123..49686124 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1249del (p.Asp417fs) deletion Cardiovascular phenotype [RCV002398126]|Progressive familial heart block type IB [RCV002048913]|Progressive familial heart block type IB [RCV002479823] Chr19:49181442 [GRCh38]
Chr19:49684699 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1169C>G (p.Ala390Gly) single nucleotide variant Progressive familial heart block type IB [RCV001921621] Chr19:49181367 [GRCh38]
Chr19:49684624 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.484A>G (p.Ile162Val) single nucleotide variant Progressive familial heart block type IB [RCV002010039] Chr19:49168295 [GRCh38]
Chr19:49671552 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3383A>C (p.His1128Pro) single nucleotide variant Cardiovascular phenotype [RCV004044880]|Progressive familial heart block type IB [RCV002050305] Chr19:49210764 [GRCh38]
Chr19:49714021 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2155C>T (p.Arg719Trp) single nucleotide variant Progressive familial heart block type IB [RCV002016720] Chr19:49190718 [GRCh38]
Chr19:49693975 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.121C>T (p.Arg41Trp) single nucleotide variant Cardiovascular phenotype [RCV002361404]|Progressive familial heart block type IB [RCV002026710] Chr19:49166069 [GRCh38]
Chr19:49669326 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.858+3A>G single nucleotide variant Progressive familial heart block type IB [RCV001980531] Chr19:49171421 [GRCh38]
Chr19:49674678 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2453A>G (p.Tyr818Cys) single nucleotide variant Progressive familial heart block type IB [RCV001921415] Chr19:49196682 [GRCh38]
Chr19:49699939 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2513G>T (p.Gly838Val) single nucleotide variant Progressive familial heart block type IB [RCV001979957] Chr19:49196742 [GRCh38]
Chr19:49699999 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.448+11G>T single nucleotide variant Progressive familial heart block type IB [RCV001981125] Chr19:49168108 [GRCh38]
Chr19:49671365 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2206G>T (p.Val736Phe) single nucleotide variant Progressive familial heart block type IB [RCV001906396] Chr19:49190769 [GRCh38]
Chr19:49694026 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49699697)_(49705398_?)del deletion Progressive familial heart block type IB [RCV001992414] Chr19:49699697..49705398 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3550C>T (p.Arg1184Cys) single nucleotide variant Cardiovascular phenotype [RCV004045299]|Progressive familial heart block type IB [RCV001980725]|Progressive familial heart block type IB [RCV002492265] Chr19:49211179 [GRCh38]
Chr19:49714436 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1570G>C (p.Ala524Pro) single nucleotide variant Cardiovascular phenotype [RCV002398036]|Progressive familial heart block type IB [RCV001977809] Chr19:49182884 [GRCh38]
Chr19:49686141 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1933C>T (p.Arg645Cys) single nucleotide variant Cardiovascular phenotype [RCV004681378]|Progressive familial heart block type IB [RCV001995876] Chr19:49189005 [GRCh38]
Chr19:49692262 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3574G>T (p.Ala1192Ser) single nucleotide variant Cardiovascular phenotype [RCV002458804]|Progressive familial heart block type IB [RCV001954642] Chr19:49211203 [GRCh38]
Chr19:49714460 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.45C>A (p.Phe15Leu) single nucleotide variant Cardiovascular phenotype [RCV004681273]|Progressive familial heart block type IB [RCV001930222]|not provided [RCV005054378] Chr19:49158212 [GRCh38]
Chr19:49661469 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2714G>A (p.Arg905Gln) single nucleotide variant Cardiovascular phenotype [RCV003375554]|Progressive familial heart block type IB [RCV002013470] Chr19:49200368 [GRCh38]
Chr19:49703625 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3329-3C>G single nucleotide variant Progressive familial heart block type IB [RCV001906605] Chr19:49210707 [GRCh38]
Chr19:49713964 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49684586)_(49686489_?)dup duplication Progressive familial heart block type IB [RCV001992904] Chr19:49684586..49686489 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1412C>T (p.Ser471Leu) single nucleotide variant Cardiovascular phenotype [RCV002388771]|Progressive familial heart block type IB [RCV001906036] Chr19:49182726 [GRCh38]
Chr19:49685983 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.323G>A (p.Arg108His) single nucleotide variant Cardiovascular phenotype [RCV002449586]|Progressive familial heart block type IB [RCV001921052] Chr19:49167972 [GRCh38]
Chr19:49671229 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2300G>A (p.Arg767Gln) single nucleotide variant Cardiovascular phenotype [RCV004045272]|Progressive familial heart block type IB [RCV001980305] Chr19:49196529 [GRCh38]
Chr19:49699786 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1795A>G (p.Met599Val) single nucleotide variant Cardiovascular phenotype [RCV002397946]|Progressive familial heart block type IB [RCV001982096]|not specified [RCV003490954] Chr19:49188692 [GRCh38]
Chr19:49691949 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.574G>C (p.Gly192Arg) single nucleotide variant Progressive familial heart block type IB [RCV001958224] Chr19:49168385 [GRCh38]
Chr19:49671642 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.858G>A (p.Thr286=) single nucleotide variant Progressive familial heart block type IB [RCV001877108]|Progressive familial heart block type IB [RCV002482570] Chr19:49171418 [GRCh38]
Chr19:49674675 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1991G>A (p.Arg664His) single nucleotide variant Cardiovascular phenotype [RCV002423154]|Progressive familial heart block type IB [RCV001998029] Chr19:49189063 [GRCh38]
Chr19:49692320 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2866G>C (p.Asp956His) single nucleotide variant Progressive familial heart block type IB [RCV001961343] Chr19:49200698 [GRCh38]
Chr19:49703955 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_48618906)_(50921204_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] Chr19:48618906..50921204 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1547C>T (p.Ala516Val) single nucleotide variant Progressive familial heart block type IB [RCV002026647] Chr19:49182861 [GRCh38]
Chr19:49686118 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.47AGA[2] (p.Lys18del) microsatellite Progressive familial heart block type IB [RCV001900211] Chr19:49158213..49158215 [GRCh38]
Chr19:49661470..49661472 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.495T>A (p.His165Gln) single nucleotide variant Progressive familial heart block type IB [RCV001923171] Chr19:49168306 [GRCh38]
Chr19:49671563 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2654C>T (p.Pro885Leu) single nucleotide variant Cardiovascular phenotype [RCV003375528]|Progressive familial heart block type IB [RCV001980483] Chr19:49200308 [GRCh38]
Chr19:49703565 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1309C>T (p.Arg437Trp) single nucleotide variant Progressive familial heart block type IB [RCV002036019]|not provided [RCV004774608] Chr19:49182623 [GRCh38]
Chr19:49685880 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.354G>A (p.Val118=) single nucleotide variant Progressive familial heart block type IB [RCV001870213] Chr19:49168003 [GRCh38]
Chr19:49671260 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3224T>G (p.Leu1075Arg) single nucleotide variant Cardiovascular phenotype [RCV002324337]|Long QT syndrome [RCV003318408]|Progressive familial heart block type IB [RCV001923652] Chr19:49210301 [GRCh38]
Chr19:49713558 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2510G>A (p.Gly837Glu) single nucleotide variant Progressive familial heart block type IB [RCV001883789] Chr19:49196739 [GRCh38]
Chr19:49699996 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3076A>C (p.Ile1026Leu) single nucleotide variant Cardiovascular phenotype [RCV002319732]|Progressive familial heart block type IB [RCV001904993] Chr19:49202086 [GRCh38]
Chr19:49705343 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2618C>T (p.Thr873Ile) single nucleotide variant Progressive familial heart block type IB [RCV001885604] Chr19:49196847 [GRCh38]
Chr19:49700104 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1815C>A (p.Asp605Glu) single nucleotide variant Cardiovascular phenotype [RCV004996101]|Progressive familial heart block type IB [RCV001925556] Chr19:49188712 [GRCh38]
Chr19:49691969 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2227G>C (p.Glu743Gln) single nucleotide variant Cardiovascular phenotype [RCV002425159]|Progressive familial heart block type IB [RCV001885611] Chr19:49196456 [GRCh38]
Chr19:49699713 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2123T>C (p.Ile708Thr) single nucleotide variant Progressive familial heart block type IB [RCV001906843] Chr19:49190311 [GRCh38]
Chr19:49693568 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1325G>A (p.Arg442His) single nucleotide variant Progressive familial heart block type IB [RCV001957691] Chr19:49182639 [GRCh38]
Chr19:49685896 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2278G>C (p.Gly760Arg) single nucleotide variant Progressive familial heart block type IB [RCV001919447] Chr19:49196507 [GRCh38]
Chr19:49699764 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2420C>T (p.Pro807Leu) single nucleotide variant Cardiovascular phenotype [RCV002458797]|Progressive familial heart block type IB [RCV001921265]|Progressive familial heart block type IB [RCV002484511]|not provided [RCV003229068] Chr19:49196649 [GRCh38]
Chr19:49699906 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.267+7C>T single nucleotide variant Progressive familial heart block type IB [RCV002029012] Chr19:49166222 [GRCh38]
Chr19:49669479 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49661124)_(49669492_?)del deletion Progressive familial heart block type IB [RCV001923061] Chr19:49661124..49669492 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49713446)_(49714755_?)del deletion Progressive familial heart block type IB [RCV001923062] Chr19:49713446..49714755 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1335T>G (p.Ile445Met) single nucleotide variant Progressive familial heart block type IB [RCV001883006] Chr19:49182649 [GRCh38]
Chr19:49685906 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1126A>G (p.Ile376Val) single nucleotide variant Progressive familial heart block type IB [RCV002012873] Chr19:49172084 [GRCh38]
Chr19:49675341 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.865G>A (p.Glu289Lys) single nucleotide variant Cardiovascular phenotype [RCV002449447]|Progressive familial heart block type IB [RCV002050064]|Progressive familial heart block type IB [RCV002478087]|not provided [RCV003324834] Chr19:49171584 [GRCh38]
Chr19:49674841 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.857C>T (p.Thr286Met) single nucleotide variant Cardiovascular phenotype [RCV002443042]|Progressive familial heart block type IB [RCV002013822]|Progressive familial heart block type IB [RCV002498035] Chr19:49171417 [GRCh38]
Chr19:49674674 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.790G>A (p.Val264Met) single nucleotide variant Cardiovascular phenotype [RCV002423227]|Progressive familial heart block type IB [RCV002015991]|not provided [RCV003170527] Chr19:49168730 [GRCh38]
Chr19:49671987 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3644G>A (p.Ter1215=) single nucleotide variant Progressive familial heart block type IB [RCV002105409] Chr19:49211497 [GRCh38]
Chr19:49714754 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.687C>T (p.Tyr229=) single nucleotide variant Progressive familial heart block type IB [RCV002110413] Chr19:49168627 [GRCh38]
Chr19:49671884 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1941G>A (p.Pro647=) single nucleotide variant Progressive familial heart block type IB [RCV002108200] Chr19:49189013 [GRCh38]
Chr19:49692270 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2292G>C (p.Gly764=) single nucleotide variant Progressive familial heart block type IB [RCV002192325] Chr19:49196521 [GRCh38]
Chr19:49699778 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2211-14C>G single nucleotide variant Progressive familial heart block type IB [RCV002075505] Chr19:49196426 [GRCh38]
Chr19:49699683 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2513del (p.Gly838fs) deletion Cardiovascular phenotype [RCV002427729]|Progressive familial heart block type IB [RCV005095758]|not provided [RCV002224367] Chr19:49196738 [GRCh38]
Chr19:49699995 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3201G>T (p.Arg1067=) single nucleotide variant Progressive familial heart block type IB [RCV002188935] Chr19:49210278 [GRCh38]
Chr19:49713535 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1311G>A (p.Arg437=) single nucleotide variant Progressive familial heart block type IB [RCV002185151] Chr19:49182625 [GRCh38]
Chr19:49685882 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2684T>A (p.Leu895His) single nucleotide variant Progressive familial heart block type IB [RCV003089171]|not provided [RCV002224473] Chr19:49200338 [GRCh38]
Chr19:49703595 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3535-19C>T single nucleotide variant Progressive familial heart block type IB [RCV002185026] Chr19:49211145 [GRCh38]
Chr19:49714402 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2779-15C>G single nucleotide variant Progressive familial heart block type IB [RCV002108760] Chr19:49200596 [GRCh38]
Chr19:49703853 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1141del (p.Leu381_Val382insTer) deletion not provided [RCV002224450] Chr19:49172097 [GRCh38]
Chr19:49675354 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2132+5G>A single nucleotide variant Progressive familial heart block type IB [RCV002090642] Chr19:49190325 [GRCh38]
Chr19:49693582 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.24+10G>A single nucleotide variant Progressive familial heart block type IB [RCV002109370] Chr19:49157900 [GRCh38]
Chr19:49661157 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2787C>T (p.Asp929=) single nucleotide variant Cardiovascular phenotype [RCV004681424]|Progressive familial heart block type IB [RCV002186774]|not provided [RCV004704689] Chr19:49200619 [GRCh38]
Chr19:49703876 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2778+7C>G single nucleotide variant Progressive familial heart block type IB [RCV002072498] Chr19:49200439 [GRCh38]
Chr19:49703696 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3388G>A (p.Glu1130Lys) single nucleotide variant not provided [RCV002223402] Chr19:49210769 [GRCh38]
Chr19:49714026 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.380del (p.Gly127fs) deletion Progressive familial heart block type IB [RCV003093876]|not provided [RCV002223442] Chr19:49168024 [GRCh38]
Chr19:49671281 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3328+12G>T single nucleotide variant Progressive familial heart block type IB [RCV002086987] Chr19:49210417 [GRCh38]
Chr19:49713674 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2258C>A (p.Ser753Ter) single nucleotide variant not provided [RCV002223522] Chr19:49196487 [GRCh38]
Chr19:49699744 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.859-4G>A single nucleotide variant Cardiovascular phenotype [RCV002443098]|Progressive familial heart block type IB [RCV002167165] Chr19:49171574 [GRCh38]
Chr19:49674831 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3461+19C>A single nucleotide variant Progressive familial heart block type IB [RCV002147649] Chr19:49210861 [GRCh38]
Chr19:49714118 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2664C>G (p.Tyr888Ter) single nucleotide variant Progressive familial heart block type IB [RCV002496160]|Progressive familial heart block type IB [RCV003609196]|not provided [RCV002223470] Chr19:49200318 [GRCh38]
Chr19:49703575 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3389A>G (p.Glu1130Gly) single nucleotide variant not provided [RCV002223475] Chr19:49210770 [GRCh38]
Chr19:49714027 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2132+19G>T single nucleotide variant Progressive familial heart block type IB [RCV002072732] Chr19:49190339 [GRCh38]
Chr19:49693596 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1264-1G>C single nucleotide variant not provided [RCV002223514] Chr19:49182577 [GRCh38]
Chr19:49685834 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1113G>A (p.Glu371=) single nucleotide variant Progressive familial heart block type IB [RCV002205372] Chr19:49172071 [GRCh38]
Chr19:49675328 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3352G>T (p.Glu1118Ter) single nucleotide variant Cardiovascular phenotype [RCV003308068]|not provided [RCV002223578] Chr19:49210733 [GRCh38]
Chr19:49713990 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3329-10G>A single nucleotide variant Progressive familial heart block type IB [RCV002145287] Chr19:49210700 [GRCh38]
Chr19:49713957 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1464C>A (p.Ala488=) single nucleotide variant Progressive familial heart block type IB [RCV002192630] Chr19:49182778 [GRCh38]
Chr19:49686035 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2430C>T (p.Pro810=) single nucleotide variant Progressive familial heart block type IB [RCV002146758] Chr19:49196659 [GRCh38]
Chr19:49699916 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.357G>T (p.Val119=) single nucleotide variant Cardiovascular phenotype [RCV002460186]|Progressive familial heart block type IB [RCV002126968] Chr19:49168006 [GRCh38]
Chr19:49671263 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2541T>G (p.Pro847=) single nucleotide variant Progressive familial heart block type IB [RCV002185553] Chr19:49196770 [GRCh38]
Chr19:49700027 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3039C>A (p.Ser1013=) single nucleotide variant Cardiovascular phenotype [RCV002443106]|Progressive familial heart block type IB [RCV002168135] Chr19:49202049 [GRCh38]
Chr19:49705306 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.448+12T>C single nucleotide variant Progressive familial heart block type IB [RCV002166211] Chr19:49168109 [GRCh38]
Chr19:49671366 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1275C>T (p.Leu425=) single nucleotide variant Cardiovascular phenotype [RCV002372890]|Progressive familial heart block type IB [RCV002088231] Chr19:49182589 [GRCh38]
Chr19:49685846 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3641-16T>C single nucleotide variant Progressive familial heart block type IB [RCV002075123] Chr19:49211478 [GRCh38]
Chr19:49714735 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2931G>A (p.Gln977=) single nucleotide variant Progressive familial heart block type IB [RCV002169634] Chr19:49200763 [GRCh38]
Chr19:49704020 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.449-8_449-7dup duplication Progressive familial heart block type IB [RCV002075459] Chr19:49168250..49168251 [GRCh38]
Chr19:49671507..49671508 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.600C>G (p.Leu200=) single nucleotide variant Progressive familial heart block type IB [RCV002165377] Chr19:49168411 [GRCh38]
Chr19:49671668 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.839G>A (p.Gly280Asp) single nucleotide variant not provided [RCV002224442] Chr19:49171399 [GRCh38]
Chr19:49674656 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1608+10G>T single nucleotide variant Progressive familial heart block type IB [RCV002105387] Chr19:49182932 [GRCh38]
Chr19:49686189 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.531C>T (p.Ser177=) single nucleotide variant Progressive familial heart block type IB [RCV002153869] Chr19:49168342 [GRCh38]
Chr19:49671599 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.24+15A>G single nucleotide variant Progressive familial heart block type IB [RCV002110722] Chr19:49157905 [GRCh38]
Chr19:49661162 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.81C>T (p.Ser27=) single nucleotide variant Cardiovascular phenotype [RCV002427606]|Progressive familial heart block type IB [RCV002080928] Chr19:49158248 [GRCh38]
Chr19:49661505 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3461+13C>T single nucleotide variant Progressive familial heart block type IB [RCV002211989] Chr19:49210855 [GRCh38]
Chr19:49714112 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2019+12C>T single nucleotide variant Progressive familial heart block type IB [RCV002097305] Chr19:49189103 [GRCh38]
Chr19:49692360 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2754C>G (p.Pro918=) single nucleotide variant Cardiovascular phenotype [RCV002434477]|Progressive familial heart block type IB [RCV002111151]|TRPM4-related disorder [RCV004531354] Chr19:49200408 [GRCh38]
Chr19:49703665 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2645+17C>T single nucleotide variant Progressive familial heart block type IB [RCV002097452] Chr19:49196891 [GRCh38]
Chr19:49700148 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.327A>G (p.Thr109=) single nucleotide variant Progressive familial heart block type IB [RCV002189962] Chr19:49167976 [GRCh38]
Chr19:49671233 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1050+11G>C single nucleotide variant Progressive familial heart block type IB [RCV002166055] Chr19:49171780 [GRCh38]
Chr19:49675037 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3075C>T (p.Val1025=) single nucleotide variant Progressive familial heart block type IB [RCV002194047] Chr19:49202085 [GRCh38]
Chr19:49705342 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.858+13G>A single nucleotide variant Progressive familial heart block type IB [RCV002085065] Chr19:49171431 [GRCh38]
Chr19:49674688 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3369G>T (p.Thr1123=) single nucleotide variant Progressive familial heart block type IB [RCV002197344] Chr19:49210750 [GRCh38]
Chr19:49714007 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.642C>T (p.Arg214=) single nucleotide variant Cardiovascular phenotype [RCV004046343]|Progressive familial heart block type IB [RCV002135085] Chr19:49168582 [GRCh38]
Chr19:49671839 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3535-4G>T single nucleotide variant Progressive familial heart block type IB [RCV002216128] Chr19:49211160 [GRCh38]
Chr19:49714417 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2757G>A (p.Lys919=) single nucleotide variant Cardiovascular phenotype [RCV004046344]|Progressive familial heart block type IB [RCV002135093] Chr19:49200411 [GRCh38]
Chr19:49703668 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3443T>C (p.Leu1148Pro) single nucleotide variant Cardiovascular phenotype [RCV002454569]|Progressive familial heart block type IB [RCV002190933]|not provided [RCV003161668]|not specified [RCV005239308] Chr19:49210824 [GRCh38]
Chr19:49714081 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2811C>T (p.Leu937=) single nucleotide variant Cardiovascular phenotype [RCV002434491]|Progressive familial heart block type IB [RCV002096432] Chr19:49200643 [GRCh38]
Chr19:49703900 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.711C>T (p.Asp237=) single nucleotide variant Cardiovascular phenotype [RCV002363621]|Progressive familial heart block type IB [RCV002152278] Chr19:49168651 [GRCh38]
Chr19:49671908 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2778+17G>A single nucleotide variant Progressive familial heart block type IB [RCV002114580] Chr19:49200449 [GRCh38]
Chr19:49703706 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2202G>A (p.Gly734=) single nucleotide variant Progressive familial heart block type IB [RCV002113228] Chr19:49190765 [GRCh38]
Chr19:49694022 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2769G>A (p.Val923=) single nucleotide variant Cardiovascular phenotype [RCV004046588]|Progressive familial heart block type IB [RCV002126426] Chr19:49200423 [GRCh38]
Chr19:49703680 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.92+11C>A single nucleotide variant Progressive familial heart block type IB [RCV002132012] Chr19:49158270 [GRCh38]
Chr19:49661527 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.2214G>T (p.Thr738=) single nucleotide variant Cardiovascular phenotype [RCV002416514]|Progressive familial heart block type IB [RCV002171921] Chr19:49196443 [GRCh38]
Chr19:49699700 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1620C>T (p.Leu540=) single nucleotide variant Cardiovascular phenotype [RCV002398258]|Progressive familial heart block type IB [RCV002079664] Chr19:49183089 [GRCh38]
Chr19:49686346 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.93-13C>T single nucleotide variant Progressive familial heart block type IB [RCV002116632] Chr19:49166028 [GRCh38]
Chr19:49669285 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3255G>A (p.Leu1085=) single nucleotide variant Cardiovascular phenotype [RCV002325640]|Progressive familial heart block type IB [RCV002146802] Chr19:49210332 [GRCh38]
Chr19:49713589 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2076C>T (p.Ala692=) single nucleotide variant Progressive familial heart block type IB [RCV002193911] Chr19:49190264 [GRCh38]
Chr19:49693521 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1494C>T (p.Leu498=) single nucleotide variant Cardiovascular phenotype [RCV002391163]|Progressive familial heart block type IB [RCV002172623] Chr19:49182808 [GRCh38]
Chr19:49686065 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2232G>A (p.Lys744=) single nucleotide variant Progressive familial heart block type IB [RCV002214953] Chr19:49196461 [GRCh38]
Chr19:49699718 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1566G>A (p.Gly522=) single nucleotide variant Progressive familial heart block type IB [RCV002166626]|TRPM4-related disorder [RCV004531524] Chr19:49182880 [GRCh38]
Chr19:49686137 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1212C>T (p.Asn404=) single nucleotide variant Cardiovascular phenotype [RCV002352808]|Progressive familial heart block type IB [RCV002207407] Chr19:49181410 [GRCh38]
Chr19:49684667 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1893T>C (p.Tyr631=) single nucleotide variant Cardiovascular phenotype [RCV004045579]|Progressive familial heart block type IB [RCV002209074]|Progressive familial heart block type IB [RCV002494101] Chr19:49188965 [GRCh38]
Chr19:49692222 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.613-15C>G single nucleotide variant Progressive familial heart block type IB [RCV002137042] Chr19:49168538 [GRCh38]
Chr19:49671795 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1119C>T (p.Phe373=) single nucleotide variant Progressive familial heart block type IB [RCV002119398] Chr19:49172077 [GRCh38]
Chr19:49675334 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2953+16G>A single nucleotide variant Progressive familial heart block type IB [RCV002135600] Chr19:49200801 [GRCh38]
Chr19:49704058 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.375G>T (p.Ser125=) single nucleotide variant Cardiovascular phenotype [RCV002361447]|Progressive familial heart block type IB [RCV002199911] Chr19:49168024 [GRCh38]
Chr19:49671281 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.448+20G>T single nucleotide variant Progressive familial heart block type IB [RCV002102237] Chr19:49168117 [GRCh38]
Chr19:49671374 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1743+19C>G single nucleotide variant Progressive familial heart block type IB [RCV002118516] Chr19:49183231 [GRCh38]
Chr19:49686488 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2976C>T (p.Asn992=) single nucleotide variant Progressive familial heart block type IB [RCV002202929]|not provided [RCV003443004] Chr19:49201986 [GRCh38]
Chr19:49705243 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.384C>T (p.Pro128=) single nucleotide variant Cardiovascular phenotype [RCV003161587]|Progressive familial heart block type IB [RCV002123110] Chr19:49168033 [GRCh38]
Chr19:49671290 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1873+17G>T single nucleotide variant Progressive familial heart block type IB [RCV002083322] Chr19:49188787 [GRCh38]
Chr19:49692044 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1986C>T (p.Asp662=) single nucleotide variant Cardiovascular phenotype [RCV002416508]|Progressive familial heart block type IB [RCV002156038] Chr19:49189058 [GRCh38]
Chr19:49692315 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.796+11G>A single nucleotide variant Progressive familial heart block type IB [RCV002160082] Chr19:49168747 [GRCh38]
Chr19:49672004 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1743+17C>T single nucleotide variant Progressive familial heart block type IB [RCV002175620] Chr19:49183229 [GRCh38]
Chr19:49686486 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2645+16C>A single nucleotide variant Progressive familial heart block type IB [RCV002143128] Chr19:49196890 [GRCh38]
Chr19:49700147 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1608+10G>A single nucleotide variant Progressive familial heart block type IB [RCV002137865] Chr19:49182932 [GRCh38]
Chr19:49686189 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1443C>A (p.Ser481=) single nucleotide variant Progressive familial heart block type IB [RCV002100593] Chr19:49182757 [GRCh38]
Chr19:49686014 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.858+14G>A single nucleotide variant Progressive familial heart block type IB [RCV002082170] Chr19:49171432 [GRCh38]
Chr19:49674689 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2205T>C (p.Pro735=) single nucleotide variant Cardiovascular phenotype [RCV004681458]|Progressive familial heart block type IB [RCV002159289]|Progressive familial heart block type IB [RCV002481009] Chr19:49190768 [GRCh38]
Chr19:49694025 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3641-12C>G single nucleotide variant Progressive familial heart block type IB [RCV002143962] Chr19:49211482 [GRCh38]
Chr19:49714739 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2133-5G>A single nucleotide variant Cardiovascular phenotype [RCV002416496]|Progressive familial heart block type IB [RCV002140781] Chr19:49190691 [GRCh38]
Chr19:49693948 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3534+19G>T single nucleotide variant Progressive familial heart block type IB [RCV002175742] Chr19:49211106 [GRCh38]
Chr19:49714363 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3462-7T>G single nucleotide variant Progressive familial heart block type IB [RCV002217004] Chr19:49211008 [GRCh38]
Chr19:49714265 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2778+18C>G single nucleotide variant Progressive familial heart block type IB [RCV002219131] Chr19:49200450 [GRCh38]
Chr19:49703707 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3288C>T (p.Pro1096=) single nucleotide variant Cardiovascular phenotype [RCV002443146]|Progressive familial heart block type IB [RCV002219086] Chr19:49210365 [GRCh38]
Chr19:49713622 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.249C>G (p.Ala83=) single nucleotide variant Cardiovascular phenotype [RCV003161523]|Progressive familial heart block type IB [RCV002141454] Chr19:49166197 [GRCh38]
Chr19:49669454 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.858+11C>T single nucleotide variant Progressive familial heart block type IB [RCV002118725] Chr19:49171429 [GRCh38]
Chr19:49674686 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.449-11C>T single nucleotide variant Progressive familial heart block type IB [RCV002158790] Chr19:49168249 [GRCh38]
Chr19:49671506 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1401G>A (p.Ala467=) single nucleotide variant Progressive familial heart block type IB [RCV002141619] Chr19:49182715 [GRCh38]
Chr19:49685972 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.321A>G (p.Thr107=) single nucleotide variant Progressive familial heart block type IB [RCV002199152] Chr19:49167970 [GRCh38]
Chr19:49671227 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1293C>T (p.Asp431=) single nucleotide variant Cardiovascular phenotype [RCV002382463]|Progressive familial heart block type IB [RCV002203545] Chr19:49182607 [GRCh38]
Chr19:49685864 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1869C>A (p.Gly623=) single nucleotide variant Cardiovascular phenotype [RCV002409615]|Progressive familial heart block type IB [RCV002203554] Chr19:49188766 [GRCh38]
Chr19:49692023 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2916G>T (p.Leu972=) single nucleotide variant Cardiovascular phenotype [RCV003382829]|Progressive familial heart block type IB [RCV002202086] Chr19:49200748 [GRCh38]
Chr19:49704005 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2136A>G (p.Lys712=) single nucleotide variant Cardiovascular phenotype [RCV003303735]|Progressive familial heart block type IB [RCV002200383] Chr19:49190699 [GRCh38]
Chr19:49693956 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.1609-18C>T single nucleotide variant Progressive familial heart block type IB [RCV002162190] Chr19:49183060 [GRCh38]
Chr19:49686317 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2779-16C>T single nucleotide variant Progressive familial heart block type IB [RCV002119907] Chr19:49200595 [GRCh38]
Chr19:49703852 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1665G>A (p.Gly555=) single nucleotide variant Cardiovascular phenotype [RCV005288730]|Progressive familial heart block type IB [RCV002084058] Chr19:49183134 [GRCh38]
Chr19:49686391 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2259G>C (p.Ser753=) single nucleotide variant Progressive familial heart block type IB [RCV002103989] Chr19:49196488 [GRCh38]
Chr19:49699745 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2778+9G>A single nucleotide variant Progressive familial heart block type IB [RCV002083870] Chr19:49200441 [GRCh38]
Chr19:49703698 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.268-18G>A single nucleotide variant Progressive familial heart block type IB [RCV002098754] Chr19:49167899 [GRCh38]
Chr19:49671156 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2268G>A (p.Pro756=) single nucleotide variant Cardiovascular phenotype [RCV002443261]|Progressive familial heart block type IB [RCV002183721] Chr19:49196497 [GRCh38]
Chr19:49699754 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1363C>T (p.Leu455=) single nucleotide variant Progressive familial heart block type IB [RCV002160538] Chr19:49182677 [GRCh38]
Chr19:49685934 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.612+15C>T single nucleotide variant Progressive familial heart block type IB [RCV002157376] Chr19:49168438 [GRCh38]
Chr19:49671695 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3274T>C (p.Leu1092=) single nucleotide variant Progressive familial heart block type IB [RCV002118852] Chr19:49210351 [GRCh38]
Chr19:49713608 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3624C>T (p.Asp1208=) single nucleotide variant Cardiovascular phenotype [RCV003307939]|Progressive familial heart block type IB [RCV002103173] Chr19:49211253 [GRCh38]
Chr19:49714510 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2020-13C>T single nucleotide variant Progressive familial heart block type IB [RCV002181958] Chr19:49190195 [GRCh38]
Chr19:49693452 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2779-13C>T single nucleotide variant Progressive familial heart block type IB [RCV002083052] Chr19:49200598 [GRCh38]
Chr19:49703855 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2802C>T (p.Leu934=) single nucleotide variant Progressive familial heart block type IB [RCV003110667] Chr19:49200634 [GRCh38]
Chr19:49703891 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.181T>A (p.Trp61Arg) single nucleotide variant Progressive familial heart block type IB [RCV003111873] Chr19:49166129 [GRCh38]
Chr19:49669386 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2319C>T (p.Phe773=) single nucleotide variant Cardiovascular phenotype [RCV003294633]|Progressive familial heart block type IB [RCV003117130] Chr19:49196548 [GRCh38]
Chr19:49699805 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1874-11C>A single nucleotide variant Progressive familial heart block type IB [RCV003118143] Chr19:49188935 [GRCh38]
Chr19:49692192 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.9:g.(?_49472545)_(49714755_?)del deletion Progressive familial heart block type IB [RCV003119771] Chr19:49472545..49714755 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49713446)_(49714755_?)dup duplication Progressive familial heart block type IB [RCV003119772] Chr19:49713446..49714755 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49705201)_(49705418_?)del deletion Progressive familial heart block type IB [RCV003119773] Chr19:49705201..49705418 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49684586)_(49694050_?)dup duplication Progressive familial heart block type IB [RCV003119774] Chr19:49684586..49694050 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1443C>G (p.Ser481=) single nucleotide variant Progressive familial heart block type IB [RCV003119106] Chr19:49182757 [GRCh38]
Chr19:49686014 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3311C>A (p.Pro1104Gln) single nucleotide variant not specified [RCV004783408] Chr19:49210388 [GRCh38]
Chr19:49713645 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.716C>T (p.Thr239Ile) single nucleotide variant not provided [RCV003129221] Chr19:49168656 [GRCh38]
Chr19:49671913 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1424A>G (p.Asn475Ser) single nucleotide variant Progressive familial heart block type IB [RCV003609199]|not provided [RCV002274599] Chr19:49182738 [GRCh38]
Chr19:49685995 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1140C>T (p.Ala380=) single nucleotide variant Cardiovascular phenotype [RCV002452119] Chr19:49172098 [GRCh38]
Chr19:49675355 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3416_3417delinsGA (p.Asp1139Gly) indel Cardiovascular phenotype [RCV002452194] Chr19:49210797..49210798 [GRCh38]
Chr19:49714054..49714055 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3621del (p.Asp1208fs) deletion Cardiovascular phenotype [RCV002452306] Chr19:49211250 [GRCh38]
Chr19:49714507 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2806T>C (p.Phe936Leu) single nucleotide variant not provided [RCV002263184] Chr19:49200638 [GRCh38]
Chr19:49703895 [GRCh37]
Chr19:19q13.33		 uncertain significance
Single allele duplication not provided [RCV002266854] Chr19:49131439..49174442 [GRCh38]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2829_2843del (p.Tyr944_Thr948del) deletion Cardiovascular phenotype [RCV002435057]|Progressive familial heart block type IB [RCV003102761] Chr19:49200660..49200674 [GRCh38]
Chr19:49703917..49703931 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3004C>T (p.His1002Tyr) single nucleotide variant Cardiovascular phenotype [RCV002435700]|Progressive familial heart block type IB [RCV003108117]|not provided [RCV003227072] Chr19:49202014 [GRCh38]
Chr19:49705271 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3403G>C (p.Ala1135Pro) single nucleotide variant Cardiovascular phenotype [RCV002452109]|Progressive familial heart block type IB [RCV003102368] Chr19:49210784 [GRCh38]
Chr19:49714041 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2853C>T (p.Leu951=) single nucleotide variant Cardiovascular phenotype [RCV002435392]|not provided [RCV004546732] Chr19:49200685 [GRCh38]
Chr19:49703942 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2991C>T (p.Pro997=) single nucleotide variant Cardiovascular phenotype [RCV002435501]|Progressive familial heart block type IB [RCV003102954]|not provided [RCV004703274] Chr19:49202001 [GRCh38]
Chr19:49705258 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3298C>A (p.Gln1100Lys) single nucleotide variant not provided [RCV002278878] Chr19:49210375 [GRCh38]
Chr19:49713632 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2827G>A (p.Ala943Thr) single nucleotide variant Cardiovascular phenotype [RCV002435044]|not provided [RCV003443058] Chr19:49200659 [GRCh38]
Chr19:49703916 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2828C>A (p.Ala943Asp) single nucleotide variant Cardiovascular phenotype [RCV002435050] Chr19:49200660 [GRCh38]
Chr19:49703917 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2830T>A (p.Tyr944Asn) single nucleotide variant Cardiovascular phenotype [RCV002435123] Chr19:49200662 [GRCh38]
Chr19:49703919 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2657G>T (p.Gly886Val) single nucleotide variant Cardiovascular phenotype [RCV002453107] Chr19:49200311 [GRCh38]
Chr19:49703568 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3301C>A (p.Pro1101Thr) single nucleotide variant Cardiovascular phenotype [RCV002454702] Chr19:49210378 [GRCh38]
Chr19:49713635 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2309G>T (p.Arg770Leu) single nucleotide variant Cardiovascular phenotype [RCV002443300]|Progressive familial heart block type IB [RCV002297430] Chr19:49196538 [GRCh38]
Chr19:49699795 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.178G>C (p.Val60Leu) single nucleotide variant Progressive familial heart block type IB [RCV002297663] Chr19:49166126 [GRCh38]
Chr19:49669383 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3033C>T (p.Cys1011=) single nucleotide variant Cardiovascular phenotype [RCV002438128]|Progressive familial heart block type IB [RCV005098394] Chr19:49202043 [GRCh38]
Chr19:49705300 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3016del (p.Ala1006fs) deletion Cardiovascular phenotype [RCV002435830]|Progressive familial heart block type IB [RCV003609249] Chr19:49202023 [GRCh38]
Chr19:49705280 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.714C>A (p.Gly238=) single nucleotide variant Cardiovascular phenotype [RCV002367520] Chr19:49168654 [GRCh38]
Chr19:49671911 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2596del (p.Gln866fs) deletion Cardiovascular phenotype [RCV002437110] Chr19:49196824 [GRCh38]
Chr19:49700081 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2612C>G (p.Ala871Gly) single nucleotide variant Cardiovascular phenotype [RCV002437186] Chr19:49196841 [GRCh38]
Chr19:49700098 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2621G>A (p.Cys874Tyr) single nucleotide variant Cardiovascular phenotype [RCV002437237] Chr19:49196850 [GRCh38]
Chr19:49700107 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2020-5C>A single nucleotide variant Cardiovascular phenotype [RCV002419575]|Progressive familial heart block type IB [RCV003502670] Chr19:49190203 [GRCh38]
Chr19:49693460 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.626C>T (p.Ala209Val) single nucleotide variant Cardiovascular phenotype [RCV002368650]|Progressive familial heart block type IB [RCV003502648] Chr19:49168566 [GRCh38]
Chr19:49671823 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3570C>T (p.Ala1190=) single nucleotide variant Cardiovascular phenotype [RCV002455004]|Progressive familial heart block type IB [RCV003099587] Chr19:49211199 [GRCh38]
Chr19:49714456 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.505G>A (p.Ala169Thr) single nucleotide variant Cardiovascular phenotype [RCV002351441]|Progressive familial heart block type IB [RCV003096594] Chr19:49168316 [GRCh38]
Chr19:49671573 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2882G>A (p.Ser961Asn) single nucleotide variant Cardiovascular phenotype [RCV002437818]|Progressive familial heart block type IB [RCV003102826] Chr19:49200714 [GRCh38]
Chr19:49703971 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3552C>T (p.Arg1184=) single nucleotide variant Cardiovascular phenotype [RCV002454877]|Progressive familial heart block type IB [RCV003099570] Chr19:49211181 [GRCh38]
Chr19:49714438 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.667T>C (p.Phe223Leu) single nucleotide variant Cardiovascular phenotype [RCV002367016] Chr19:49168607 [GRCh38]
Chr19:49671864 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.671C>T (p.Pro224Leu) single nucleotide variant Cardiovascular phenotype [RCV002367240] Chr19:49168611 [GRCh38]
Chr19:49671868 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.708C>T (p.Asp236=) single nucleotide variant Cardiovascular phenotype [RCV002367264]|Progressive familial heart block type IB [RCV003502653]|TRPM4-related disorder [RCV004534070] Chr19:49168648 [GRCh38]
Chr19:49671905 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2502C>A (p.Ser834Arg) single nucleotide variant Cardiovascular phenotype [RCV003301659] Chr19:49196731 [GRCh38]
Chr19:49699988 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.764C>T (p.Ser255Phe) single nucleotide variant Cardiovascular phenotype [RCV003301662] Chr19:49168704 [GRCh38]
Chr19:49671961 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1341C>T (p.His447=) single nucleotide variant Cardiovascular phenotype [RCV003301663] Chr19:49182655 [GRCh38]
Chr19:49685912 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1797G>T (p.Met599Ile) single nucleotide variant Cardiovascular phenotype [RCV003305842] Chr19:49188694 [GRCh38]
Chr19:49691951 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.546G>A (p.Lys182=) single nucleotide variant Cardiovascular phenotype [RCV003305844] Chr19:49168357 [GRCh38]
Chr19:49671614 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.901G>A (p.Val301Met) single nucleotide variant Cardiovascular phenotype [RCV003305845]|Progressive familial heart block type IB [RCV003609278] Chr19:49171620 [GRCh38]
Chr19:49674877 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1863G>C (p.Gly621=) single nucleotide variant Cardiovascular phenotype [RCV003305846] Chr19:49188760 [GRCh38]
Chr19:49692017 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.873C>T (p.Ala291=) single nucleotide variant Cardiovascular phenotype [RCV003305847] Chr19:49171592 [GRCh38]
Chr19:49674849 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.575G>T (p.Gly192Val) single nucleotide variant Cardiovascular phenotype [RCV003305848] Chr19:49168386 [GRCh38]
Chr19:49671643 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1884C>T (p.Gly628=) single nucleotide variant Cardiovascular phenotype [RCV002415361] Chr19:49188956 [GRCh38]
Chr19:49692213 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1918C>T (p.Arg640Cys) single nucleotide variant Cardiovascular phenotype [RCV002410640]|Progressive familial heart block type IB [RCV003097350] Chr19:49188990 [GRCh38]
Chr19:49692247 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2111A>G (p.Tyr704Cys) single nucleotide variant Cardiovascular phenotype [RCV002417491] Chr19:49190299 [GRCh38]
Chr19:49693556 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2543G>T (p.Gly848Val) single nucleotide variant Myoepithelial tumor [RCV002463973] Chr19:49196772 [GRCh38]
Chr19:49700029 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3393C>G (p.Asn1131Lys) single nucleotide variant Cardiovascular phenotype [RCV004156475]|Progressive familial heart block type IB [RCV003777908] Chr19:49210774 [GRCh38]
Chr19:49714031 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.12G>C (p.Pro4=) single nucleotide variant Cardiovascular phenotype [RCV002380809] Chr19:49157878 [GRCh38]
Chr19:49661135 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3527A>C (p.Glu1176Ala) single nucleotide variant Cardiovascular phenotype [RCV002459361] Chr19:49211080 [GRCh38]
Chr19:49714337 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2132+5G>T single nucleotide variant Cardiovascular phenotype [RCV002417798]|Progressive familial heart block type IB [RCV003101073] Chr19:49190325 [GRCh38]
Chr19:49693582 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1526T>C (p.Met509Thr) single nucleotide variant Cardiovascular phenotype [RCV002392534]|Progressive familial heart block type IB [RCV003095293] Chr19:49182840 [GRCh38]
Chr19:49686097 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2425C>T (p.Pro809Ser) single nucleotide variant Cardiovascular phenotype [RCV002459830]|Progressive familial heart block type IB [RCV005098129] Chr19:49196654 [GRCh38]
Chr19:49699911 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3217C>A (p.Pro1073Thr) single nucleotide variant Cardiovascular phenotype [RCV002324647] Chr19:49210294 [GRCh38]
Chr19:49713551 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1553G>A (p.Arg518Lys) single nucleotide variant Cardiovascular phenotype [RCV002403414] Chr19:49182867 [GRCh38]
Chr19:49686124 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3584G>C (p.Arg1195Pro) single nucleotide variant Cardiovascular phenotype [RCV002460286] Chr19:49211213 [GRCh38]
Chr19:49714470 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2906G>T (p.Arg969Leu) single nucleotide variant Cardiovascular phenotype [RCV002439766] Chr19:49200738 [GRCh38]
Chr19:49703995 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.226G>A (p.Gly76Arg) single nucleotide variant Cardiovascular phenotype [RCV002443869] Chr19:49166174 [GRCh38]
Chr19:49669431 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1120G>C (p.Glu374Gln) single nucleotide variant Cardiovascular phenotype [RCV002440007] Chr19:49172078 [GRCh38]
Chr19:49675335 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3047C>T (p.Ala1016Val) single nucleotide variant Cardiovascular phenotype [RCV002444048] Chr19:49202057 [GRCh38]
Chr19:49705314 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.643G>A (p.Gly215Ser) single nucleotide variant Cardiovascular phenotype [RCV002361782]|Progressive familial heart block type IB [RCV003502649] Chr19:49168583 [GRCh38]
Chr19:49671840 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.343C>T (p.Pro115Ser) single nucleotide variant Cardiovascular phenotype [RCV002457103] Chr19:49167992 [GRCh38]
Chr19:49671249 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1492C>T (p.Leu498Phe) single nucleotide variant Cardiovascular phenotype [RCV002389730] Chr19:49182806 [GRCh38]
Chr19:49686063 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2222C>G (p.Pro741Arg) single nucleotide variant Cardiovascular phenotype [RCV002428094]|Progressive familial heart block type IB [RCV003502674] Chr19:49196451 [GRCh38]
Chr19:49699708 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3164A>G (p.Asp1055Gly) single nucleotide variant Cardiovascular phenotype [RCV002322547] Chr19:49210241 [GRCh38]
Chr19:49713498 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2365A>G (p.Ser789Gly) single nucleotide variant Cardiovascular phenotype [RCV002457719] Chr19:49196594 [GRCh38]
Chr19:49699851 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.789C>T (p.Gly263=) single nucleotide variant Cardiovascular phenotype [RCV002416612] Chr19:49168729 [GRCh38]
Chr19:49671986 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3308C>T (p.Ser1103Phe) single nucleotide variant Cardiovascular phenotype [RCV002326263]|Progressive familial heart block type IB [RCV003099384]|not provided [RCV003149024] Chr19:49210385 [GRCh38]
Chr19:49713642 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1994C>A (p.Ala665Asp) single nucleotide variant Cardiovascular phenotype [RCV002416960] Chr19:49189066 [GRCh38]
Chr19:49692323 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1994C>T (p.Ala665Val) single nucleotide variant Cardiovascular phenotype [RCV002416962] Chr19:49189066 [GRCh38]
Chr19:49692323 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1829C>T (p.Ala610Val) single nucleotide variant Progressive familial heart block type IB [RCV002305297] Chr19:49188726 [GRCh38]
Chr19:49691983 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.597C>A (p.Thr199=) single nucleotide variant Cardiovascular phenotype [RCV002356115] Chr19:49168408 [GRCh38]
Chr19:49671665 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2006A>G (p.Gln669Arg) single nucleotide variant Cardiovascular phenotype [RCV002417259] Chr19:49189078 [GRCh38]
Chr19:49692335 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1771G>C (p.Gly591Arg) single nucleotide variant Cardiovascular phenotype [RCV002401836]|Progressive familial heart block type IB [RCV005097746] Chr19:49188668 [GRCh38]
Chr19:49691925 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2211-5C>T single nucleotide variant Cardiovascular phenotype [RCV002425866] Chr19:49196435 [GRCh38]
Chr19:49699692 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3293G>C (p.Ser1098Thr) single nucleotide variant Progressive familial heart block type IB [RCV002295935]|not provided [RCV004694216] Chr19:49210370 [GRCh38]
Chr19:49713627 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1302G>A (p.Leu434=) single nucleotide variant Cardiovascular phenotype [RCV002380879] Chr19:49182616 [GRCh38]
Chr19:49685873 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.768C>T (p.Tyr256=) single nucleotide variant Cardiovascular phenotype [RCV002400518] Chr19:49168708 [GRCh38]
Chr19:49671965 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2780T>A (p.Met927Lys) single nucleotide variant Cardiovascular phenotype [RCV002439734] Chr19:49200612 [GRCh38]
Chr19:49703869 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.759G>A (p.Leu253=) single nucleotide variant Cardiovascular phenotype [RCV002394199] Chr19:49168699 [GRCh38]
Chr19:49671956 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2299C>T (p.Arg767Trp) single nucleotide variant Cardiovascular phenotype [RCV002446281]|Progressive familial heart block type IB [RCV005058771] Chr19:49196528 [GRCh38]
Chr19:49699785 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2977T>C (p.Cys993Arg) single nucleotide variant Cardiovascular phenotype [RCV002442155] Chr19:49201987 [GRCh38]
Chr19:49705244 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2708C>T (p.Thr903Met) single nucleotide variant Cardiovascular phenotype [RCV002429056]|Progressive familial heart block type IB [RCV003102130] Chr19:49200362 [GRCh38]
Chr19:49703619 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.859C>T (p.Arg287Ter) single nucleotide variant Cardiovascular phenotype [RCV002447953]|Progressive familial heart block type IB [RCV003099983] Chr19:49171578 [GRCh38]
Chr19:49674835 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1574G>A (p.Trp525Ter) single nucleotide variant Cardiovascular phenotype [RCV002405689]|Progressive familial heart block type IB [RCV003100731] Chr19:49182888 [GRCh38]
Chr19:49686145 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2584G>A (p.Asp862Asn) single nucleotide variant Cardiovascular phenotype [RCV002426081] Chr19:49196813 [GRCh38]
Chr19:49700070 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.94G>A (p.Gly32Arg) single nucleotide variant Cardiovascular phenotype [RCV002374134] Chr19:49166042 [GRCh38]
Chr19:49669299 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2245G>A (p.Val749Ile) single nucleotide variant Cardiovascular phenotype [RCV002428401]|Progressive familial heart block type IB [RCV005058763] Chr19:49196474 [GRCh38]
Chr19:49699731 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.860G>A (p.Arg287Gln) single nucleotide variant Cardiovascular phenotype [RCV002448015]|Progressive familial heart block type IB [RCV003502659] Chr19:49171579 [GRCh38]
Chr19:49674836 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.379G>C (p.Gly127Arg) single nucleotide variant Cardiovascular phenotype [RCV002363945] Chr19:49168028 [GRCh38]
Chr19:49671285 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.900C>T (p.Leu300=) single nucleotide variant Cardiovascular phenotype [RCV002376379]|Progressive familial heart block type IB [RCV003100078] Chr19:49171619 [GRCh38]
Chr19:49674876 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.690G>A (p.Ser230=) single nucleotide variant Cardiovascular phenotype [RCV002362338]|Progressive familial heart block type IB [RCV003502652] Chr19:49168630 [GRCh38]
Chr19:49671887 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1611G>C (p.Met537Ile) single nucleotide variant Cardiovascular phenotype [RCV002400911] Chr19:49183080 [GRCh38]
Chr19:49686337 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2420C>A (p.Pro807Gln) single nucleotide variant Cardiovascular phenotype [RCV002459789] Chr19:49196649 [GRCh38]
Chr19:49699906 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2332G>T (p.Ala778Ser) single nucleotide variant Cardiovascular phenotype [RCV002448214]|Progressive familial heart block type IB [RCV003098809] Chr19:49196561 [GRCh38]
Chr19:49699818 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.479C>T (p.Thr160Met) single nucleotide variant Cardiovascular phenotype [RCV002330729]|Progressive familial heart block type IB [RCV003096469] Chr19:49168290 [GRCh38]
Chr19:49671547 [GRCh37]
Chr19:19q13.33		 benign|uncertain significance
NM_017636.4(TRPM4):c.2430C>G (p.Pro810=) single nucleotide variant Cardiovascular phenotype [RCV002459884] Chr19:49196659 [GRCh38]
Chr19:49699916 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2717T>C (p.Leu906Pro) single nucleotide variant Cardiovascular phenotype [RCV002431230] Chr19:49200371 [GRCh38]
Chr19:49703628 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3596T>C (p.Leu1199Pro) single nucleotide variant Cardiovascular phenotype [RCV002339848]|Progressive familial heart block type IB [RCV005058317] Chr19:49211225 [GRCh38]
Chr19:49714482 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3349G>T (p.Ala1117Ser) single nucleotide variant Cardiovascular phenotype [RCV002320956] Chr19:49210730 [GRCh38]
Chr19:49713987 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2438T>G (p.Leu813Arg) single nucleotide variant Cardiovascular phenotype [RCV002459972] Chr19:49196667 [GRCh38]
Chr19:49699924 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.733G>A (p.Gly245Ser) single nucleotide variant Cardiovascular phenotype [RCV002380199] Chr19:49168673 [GRCh38]
Chr19:49671930 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2533C>G (p.Pro845Ala) single nucleotide variant Cardiovascular phenotype [RCV002433187] Chr19:49196762 [GRCh38]
Chr19:49700019 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3453G>A (p.Thr1151=) single nucleotide variant Cardiovascular phenotype [RCV002457218]|Progressive familial heart block type IB [RCV003099495] Chr19:49210834 [GRCh38]
Chr19:49714091 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2587A>G (p.Ser863Gly) single nucleotide variant Cardiovascular phenotype [RCV002426098]|Progressive familial heart block type IB [RCV005058815] Chr19:49196816 [GRCh38]
Chr19:49700073 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3171C>T (p.Tyr1057=) single nucleotide variant Cardiovascular phenotype [RCV002322638]|Progressive familial heart block type IB [RCV003099260] Chr19:49210248 [GRCh38]
Chr19:49713505 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2515_2532del (p.Ser839_Gly844del) deletion Cardiovascular phenotype [RCV002432979] Chr19:49196736..49196753 [GRCh38]
Chr19:49699993..49700010 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1759T>G (p.Ser587Ala) single nucleotide variant Cardiovascular phenotype [RCV002407591] Chr19:49188656 [GRCh38]
Chr19:49691913 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1120G>A (p.Glu374Lys) single nucleotide variant Cardiovascular phenotype [RCV002439973]|Progressive familial heart block type IB [RCV003609248] Chr19:49172078 [GRCh38]
Chr19:49675335 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3351C>G (p.Ala1117=) single nucleotide variant Cardiovascular phenotype [RCV002320987] Chr19:49210732 [GRCh38]
Chr19:49713989 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.160G>A (p.Gly54Arg) single nucleotide variant Cardiovascular phenotype [RCV002394819] Chr19:49166108 [GRCh38]
Chr19:49669365 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.323G>T (p.Arg108Leu) single nucleotide variant Cardiovascular phenotype [RCV002324783] Chr19:49167972 [GRCh38]
Chr19:49671229 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.734G>A (p.Gly245Asp) single nucleotide variant Cardiovascular phenotype [RCV002380241]|Progressive familial heart block type IB [RCV003098551] Chr19:49168674 [GRCh38]
Chr19:49671931 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1630G>T (p.Ala544Ser) single nucleotide variant Cardiovascular phenotype [RCV002401284]|Progressive familial heart block type IB [RCV003609237] Chr19:49183099 [GRCh38]
Chr19:49686356 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.236A>G (p.Asp79Gly) single nucleotide variant Cardiovascular phenotype [RCV002450161]|Progressive familial heart block type IB [RCV003101763]|not provided [RCV004725281] Chr19:49166184 [GRCh38]
Chr19:49669441 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2295G>A (p.Gly765=) single nucleotide variant Cardiovascular phenotype [RCV002457507]|Progressive familial heart block type IB [RCV005098055] Chr19:49196524 [GRCh38]
Chr19:49699781 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3586T>A (p.Ser1196Thr) single nucleotide variant Cardiovascular phenotype [RCV002460294]|Progressive familial heart block type IB [RCV003102399] Chr19:49211215 [GRCh38]
Chr19:49714472 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2098C>A (p.Pro700Thr) single nucleotide variant Cardiovascular phenotype [RCV002424134]|Progressive familial heart block type IB [RCV003101053] Chr19:49190286 [GRCh38]
Chr19:49693543 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2421G>A (p.Pro807=) single nucleotide variant Cardiovascular phenotype [RCV002459797]|Progressive familial heart block type IB [RCV003101798] Chr19:49196650 [GRCh38]
Chr19:49699907 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2424G>A (p.Ala808=) single nucleotide variant Cardiovascular phenotype [RCV002459816] Chr19:49196653 [GRCh38]
Chr19:49699910 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2353G>A (p.Gly785Ser) single nucleotide variant Cardiovascular phenotype [RCV002448446] Chr19:49196582 [GRCh38]
Chr19:49699839 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3293G>T (p.Ser1098Ile) single nucleotide variant Cardiovascular phenotype [RCV002326174]|Progressive familial heart block type IB [RCV003609205] Chr19:49210370 [GRCh38]
Chr19:49713627 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3254T>G (p.Leu1085Trp) single nucleotide variant Cardiovascular phenotype [RCV002445631] Chr19:49210331 [GRCh38]
Chr19:49713588 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.420T>A (p.Arg140=) single nucleotide variant Cardiovascular phenotype [RCV002327952] Chr19:49168069 [GRCh38]
Chr19:49671326 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3304T>C (p.Ser1102Pro) single nucleotide variant Cardiovascular phenotype [RCV002326248] Chr19:49210381 [GRCh38]
Chr19:49713638 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.846G>A (p.Glu282=) single nucleotide variant Cardiovascular phenotype [RCV002447588]|Progressive familial heart block type IB [RCV003103508]|TRPM4-related disorder [RCV004534074] Chr19:49171406 [GRCh38]
Chr19:49674663 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2153C>G (p.Thr718Arg) single nucleotide variant Cardiovascular phenotype [RCV002432503]|Progressive familial heart block type IB [RCV003101090] Chr19:49190716 [GRCh38]
Chr19:49693973 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2790_2801del (p.Phe933_Phe936del) deletion Cardiovascular phenotype [RCV002441409]|Progressive familial heart block type IB [RCV003502680] Chr19:49200621..49200632 [GRCh38]
Chr19:49703878..49703889 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.31A>G (p.Ile11Val) single nucleotide variant Cardiovascular phenotype [RCV002322949] Chr19:49158198 [GRCh38]
Chr19:49661455 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2145G>C (p.Glu715Asp) single nucleotide variant Cardiovascular phenotype [RCV002430610] Chr19:49190708 [GRCh38]
Chr19:49693965 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1362C>A (p.Phe454Leu) single nucleotide variant Cardiovascular phenotype [RCV002383516] Chr19:49182676 [GRCh38]
Chr19:49685933 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2484A>G (p.Glu828=) single nucleotide variant Cardiovascular phenotype [RCV002430828] Chr19:49196713 [GRCh38]
Chr19:49699970 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.427G>C (p.Val143Leu) single nucleotide variant Cardiovascular phenotype [RCV002330112]|Progressive familial heart block type IB [RCV005096531] Chr19:49168076 [GRCh38]
Chr19:49671333 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3329-3C>T single nucleotide variant Cardiovascular phenotype [RCV002326449] Chr19:49210707 [GRCh38]
Chr19:49713964 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1368C>A (p.Thr456=) single nucleotide variant Cardiovascular phenotype [RCV002383621]|Progressive familial heart block type IB [RCV003095040] Chr19:49182682 [GRCh38]
Chr19:49685939 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1902T>C (p.Ser634=) single nucleotide variant Cardiovascular phenotype [RCV002408289] Chr19:49188974 [GRCh38]
Chr19:49692231 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2489G>T (p.Arg830Leu) single nucleotide variant Cardiovascular phenotype [RCV002430901] Chr19:49196718 [GRCh38]
Chr19:49699975 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3243C>T (p.Val1081=) single nucleotide variant Cardiovascular phenotype [RCV002445606]|Progressive familial heart block type IB [RCV003502621] Chr19:49210320 [GRCh38]
Chr19:49713577 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.910T>A (p.Ser304Thr) single nucleotide variant Cardiovascular phenotype [RCV002378674] Chr19:49171629 [GRCh38]
Chr19:49674886 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.641G>T (p.Arg214Leu) single nucleotide variant Cardiovascular phenotype [RCV002361672] Chr19:49168581 [GRCh38]
Chr19:49671838 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1559C>G (p.Pro520Arg) single nucleotide variant Cardiovascular phenotype [RCV002405363]|Progressive familial heart block type IB [RCV003502666] Chr19:49182873 [GRCh38]
Chr19:49686130 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.606C>T (p.Asn202=) single nucleotide variant Cardiovascular phenotype [RCV002358360]|Progressive familial heart block type IB [RCV003502647] Chr19:49168417 [GRCh38]
Chr19:49671674 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2280G>A (p.Gly760=) single nucleotide variant Cardiovascular phenotype [RCV002446084]|Progressive familial heart block type IB [RCV005098048]|not specified [RCV005405916] Chr19:49196509 [GRCh38]
Chr19:49699766 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2767G>C (p.Val923Leu) single nucleotide variant Cardiovascular phenotype [RCV002439562]|Progressive familial heart block type IB [RCV005098278] Chr19:49200421 [GRCh38]
Chr19:49703678 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2953+5G>A single nucleotide variant Cardiovascular phenotype [RCV002441894]|Progressive familial heart block type IB [RCV003102917] Chr19:49200790 [GRCh38]
Chr19:49704047 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2956G>A (p.Ala986Thr) single nucleotide variant Cardiovascular phenotype [RCV002441921]|Progressive familial heart block type IB [RCV003102920] Chr19:49201966 [GRCh38]
Chr19:49705223 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1809G>T (p.Glu603Asp) single nucleotide variant Cardiovascular phenotype [RCV002410123] Chr19:49188706 [GRCh38]
Chr19:49691963 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.508G>A (p.Val170Ile) single nucleotide variant Cardiovascular phenotype [RCV002335924] Chr19:49168319 [GRCh38]
Chr19:49671576 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.6G>T (p.Val2=) single nucleotide variant Cardiovascular phenotype [RCV002364789] Chr19:49157872 [GRCh38]
Chr19:49661129 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1655C>G (p.Ala552Gly) single nucleotide variant Cardiovascular phenotype [RCV002403717]|Progressive familial heart block type IB [RCV003609240] Chr19:49183124 [GRCh38]
Chr19:49686381 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1353G>A (p.Leu451=) single nucleotide variant Cardiovascular phenotype [RCV002383308]|Progressive familial heart block type IB [RCV003609233] Chr19:49182667 [GRCh38]
Chr19:49685924 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1626C>G (p.Asp542Glu) single nucleotide variant Cardiovascular phenotype [RCV002401154] Chr19:49183095 [GRCh38]
Chr19:49686352 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1141C>T (p.Leu381Phe) single nucleotide variant Cardiovascular phenotype [RCV002457100]|Progressive familial heart block type IB [RCV003099485] Chr19:49172099 [GRCh38]
Chr19:49675356 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1214G>C (p.Arg405Pro) single nucleotide variant Cardiovascular phenotype [RCV002358217]|Progressive familial heart block type IB [RCV003502646] Chr19:49181412 [GRCh38]
Chr19:49684669 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1996_1997delinsGC (p.Phe666Ala) indel Progressive familial heart block type IB [RCV002295423] Chr19:49189068..49189069 [GRCh38]
Chr19:49692325..49692326 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1668G>A (p.Gln556=) single nucleotide variant Cardiovascular phenotype [RCV002403935] Chr19:49183137 [GRCh38]
Chr19:49686394 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.117C>T (p.Arg39=) single nucleotide variant Cardiovascular phenotype [RCV002342302] Chr19:49166065 [GRCh38]
Chr19:49669322 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1875C>G (p.Asp625Glu) single nucleotide variant Cardiovascular phenotype [RCV002415178] Chr19:49188947 [GRCh38]
Chr19:49692204 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2270G>A (p.Gly757Asp) single nucleotide variant Progressive familial heart block type IB [RCV002298363] Chr19:49196499 [GRCh38]
Chr19:49699756 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3417C>T (p.Asp1139=) single nucleotide variant Cardiovascular phenotype [RCV002333001]|Progressive familial heart block type IB [RCV003502623] Chr19:49210798 [GRCh38]
Chr19:49714055 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.101T>G (p.Leu34Trp) single nucleotide variant Progressive familial heart block type IB [RCV002298368] Chr19:49166049 [GRCh38]
Chr19:49669306 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.785C>T (p.Thr262Met) single nucleotide variant Cardiovascular phenotype [RCV002412227] Chr19:49168725 [GRCh38]
Chr19:49671982 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2098C>T (p.Pro700Ser) single nucleotide variant Cardiovascular phenotype [RCV002424137] Chr19:49190286 [GRCh38]
Chr19:49693543 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2333C>T (p.Ala778Val) single nucleotide variant Cardiovascular phenotype [RCV002457644]|Progressive familial heart block type IB [RCV003101744] Chr19:49196562 [GRCh38]
Chr19:49699819 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1991G>T (p.Arg664Leu) single nucleotide variant Cardiovascular phenotype [RCV002423850]|not specified [RCV004526200] Chr19:49189063 [GRCh38]
Chr19:49692320 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.696C>T (p.Phe232=) single nucleotide variant Cardiovascular phenotype [RCV002362508] Chr19:49168636 [GRCh38]
Chr19:49671893 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1608C>G (p.Ser536Arg) single nucleotide variant Cardiovascular phenotype [RCV002400888] Chr19:49182922 [GRCh38]
Chr19:49686179 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1785G>A (p.Leu595=) single nucleotide variant Cardiovascular phenotype [RCV002407716] Chr19:49188682 [GRCh38]
Chr19:49691939 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.145A>C (p.Met49Leu) single nucleotide variant Cardiovascular phenotype [RCV002394769] Chr19:49166093 [GRCh38]
Chr19:49669350 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3293G>A (p.Ser1098Asn) single nucleotide variant Cardiovascular phenotype [RCV002326173]|Progressive familial heart block type IB [RCV003775580] Chr19:49210370 [GRCh38]
Chr19:49713627 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2317T>C (p.Phe773Leu) single nucleotide variant Cardiovascular phenotype [RCV002448067] Chr19:49196546 [GRCh38]
Chr19:49699803 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3099C>T (p.Ile1033=) single nucleotide variant Cardiovascular phenotype [RCV002325881] Chr19:49202109 [GRCh38]
Chr19:49705366 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.255C>A (p.Arg85=) single nucleotide variant Cardiovascular phenotype [RCV002433361] Chr19:49166203 [GRCh38]
Chr19:49669460 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1869C>T (p.Gly623=) single nucleotide variant Cardiovascular phenotype [RCV002415030] Chr19:49188766 [GRCh38]
Chr19:49692023 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1870G>A (p.Val624Ile) single nucleotide variant Cardiovascular phenotype [RCV002415102] Chr19:49188767 [GRCh38]
Chr19:49692024 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.736G>A (p.Glu246Lys) single nucleotide variant Cardiovascular phenotype [RCV002380351]|Progressive familial heart block type IB [RCV003502656] Chr19:49168676 [GRCh38]
Chr19:49671933 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1898G>A (p.Ser633Asn) single nucleotide variant Cardiovascular phenotype [RCV002408160]|Progressive familial heart block type IB [RCV003097332] Chr19:49188970 [GRCh38]
Chr19:49692227 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3314C>T (p.Ala1105Val) single nucleotide variant Cardiovascular phenotype [RCV002326339] Chr19:49210391 [GRCh38]
Chr19:49713648 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2805C>T (p.Phe935=) single nucleotide variant Cardiovascular phenotype [RCV002441629]|Progressive familial heart block type IB [RCV005098295] Chr19:49200637 [GRCh38]
Chr19:49703894 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2803TTC[1] (p.Phe936del) microsatellite Cardiovascular phenotype [RCV002441641] Chr19:49200633..49200635 [GRCh38]
Chr19:49703890..49703892 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1180C>G (p.Leu394Val) single nucleotide variant Cardiovascular phenotype [RCV002342603]|Progressive familial heart block type IB [RCV003096394]|TRPM4-related disorder [RCV004534061]|not specified [RCV004690289] Chr19:49181378 [GRCh38]
Chr19:49684635 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1000C>T (p.Arg334Ter) single nucleotide variant Cardiovascular phenotype [RCV002332231]|Progressive familial heart block type IB [RCV005096549]|not provided [RCV004725233] Chr19:49171719 [GRCh38]
Chr19:49674976 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.326C>T (p.Thr109Ile) single nucleotide variant Cardiovascular phenotype [RCV002445696]|Progressive familial heart block type IB [RCV005096216] Chr19:49167975 [GRCh38]
Chr19:49671232 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2689A>G (p.Ile897Val) single nucleotide variant Cardiovascular phenotype [RCV002428933]|Progressive familial heart block type IB [RCV005098251]|not provided [RCV004593025] Chr19:49200343 [GRCh38]
Chr19:49703600 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.408C>A (p.Asp136Glu) single nucleotide variant Cardiovascular phenotype [RCV002323185] Chr19:49168057 [GRCh38]
Chr19:49671314 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1841A>T (p.Asp614Val) single nucleotide variant Cardiovascular phenotype [RCV002412853] Chr19:49188738 [GRCh38]
Chr19:49691995 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1639C>T (p.Pro547Ser) single nucleotide variant Cardiovascular phenotype [RCV002394916]|Progressive familial heart block type IB [RCV003609239]|not provided [RCV002463208] Chr19:49183108 [GRCh38]
Chr19:49686365 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2148G>T (p.Glu716Asp) single nucleotide variant Cardiovascular phenotype [RCV002432400]|Progressive familial heart block type IB [RCV003101083] Chr19:49190711 [GRCh38]
Chr19:49693968 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.734dup (p.Glu246fs) duplication Cardiovascular phenotype [RCV002380240] Chr19:49168668..49168669 [GRCh38]
Chr19:49671925..49671926 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3496C>G (p.Arg1166Gly) single nucleotide variant Cardiovascular phenotype [RCV002459071] Chr19:49211049 [GRCh38]
Chr19:49714306 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1848G>A (p.Ala616=) single nucleotide variant Cardiovascular phenotype [RCV002412963] Chr19:49188745 [GRCh38]
Chr19:49692002 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1045G>T (p.Ala349Ser) single nucleotide variant Cardiovascular phenotype [RCV002405489] Chr19:49171764 [GRCh38]
Chr19:49675021 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.648C>A (p.Asp216Glu) single nucleotide variant Cardiovascular phenotype [RCV002356233] Chr19:49168588 [GRCh38]
Chr19:49671845 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2203C>G (p.Pro735Ala) single nucleotide variant Cardiovascular phenotype [RCV002425767] Chr19:49190766 [GRCh38]
Chr19:49694023 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2990C>A (p.Pro997His) single nucleotide variant Cardiovascular phenotype [RCV002442331]|Progressive familial heart block type IB [RCV003102953] Chr19:49202000 [GRCh38]
Chr19:49705257 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.408C>T (p.Asp136=) single nucleotide variant Cardiovascular phenotype [RCV002323197]|Progressive familial heart block type IB [RCV003094519] Chr19:49168057 [GRCh38]
Chr19:49671314 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2217G>A (p.Ala739=) single nucleotide variant Cardiovascular phenotype [RCV002425942]|Progressive familial heart block type IB [RCV005058755] Chr19:49196446 [GRCh38]
Chr19:49699703 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3535-2A>C single nucleotide variant Cardiovascular phenotype [RCV002459437] Chr19:49211162 [GRCh38]
Chr19:49714419 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3529C>G (p.Arg1177Gly) single nucleotide variant Cardiovascular phenotype [RCV002459380] Chr19:49211082 [GRCh38]
Chr19:49714339 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1880T>C (p.Phe627Ser) single nucleotide variant Cardiovascular phenotype [RCV004047725]|not provided [RCV002306327] Chr19:49188952 [GRCh38]
Chr19:49692209 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3126G>A (p.Met1042Ile) single nucleotide variant Cardiovascular phenotype [RCV002320531] Chr19:49202136 [GRCh38]
Chr19:49705393 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.827T>C (p.Leu276Pro) single nucleotide variant Cardiovascular phenotype [RCV002430239] Chr19:49171387 [GRCh38]
Chr19:49674644 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2303G>T (p.Cys768Phe) single nucleotide variant Cardiovascular phenotype [RCV002446357] Chr19:49196532 [GRCh38]
Chr19:49699789 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2173G>C (p.Asp725His) single nucleotide variant Cardiovascular phenotype [RCV002432773] Chr19:49190736 [GRCh38]
Chr19:49693993 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3149T>C (p.Val1050Ala) single nucleotide variant Cardiovascular phenotype [RCV002320786] Chr19:49210226 [GRCh38]
Chr19:49713483 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1550C>T (p.Pro517Leu) single nucleotide variant Cardiovascular phenotype [RCV002403367] Chr19:49182864 [GRCh38]
Chr19:49686121 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.247del (p.Ala83fs) deletion Cardiovascular phenotype [RCV002455596]|Progressive familial heart block type IB [RCV003101866] Chr19:49166191 [GRCh38]
Chr19:49669448 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1541T>C (p.Met514Thr) single nucleotide variant Cardiovascular phenotype [RCV002403184]|Progressive familial heart block type IB [RCV003095314] Chr19:49182855 [GRCh38]
Chr19:49686112 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1946G>T (p.Trp649Leu) single nucleotide variant Cardiovascular phenotype [RCV002413264]|Progressive familial heart block type IB [RCV005097848] Chr19:49189018 [GRCh38]
Chr19:49692275 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2438T>C (p.Leu813Pro) single nucleotide variant Cardiovascular phenotype [RCV002459970] Chr19:49196667 [GRCh38]
Chr19:49699924 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1386A>G (p.Gln462=) single nucleotide variant Cardiovascular phenotype [RCV002396527]|Progressive familial heart block type IB [RCV005097486] Chr19:49182700 [GRCh38]
Chr19:49685957 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.250G>T (p.Gly84Cys) single nucleotide variant Cardiovascular phenotype [RCV002432927] Chr19:49166198 [GRCh38]
Chr19:49669455 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.584G>A (p.Arg195Gln) single nucleotide variant Cardiovascular phenotype [RCV002353335]|Progressive familial heart block type IB [RCV003502645] Chr19:49168395 [GRCh38]
Chr19:49671652 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.720C>T (p.His240=) single nucleotide variant Cardiovascular phenotype [RCV002370903]|Progressive familial heart block type IB [RCV003098506] Chr19:49168660 [GRCh38]
Chr19:49671917 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.225C>T (p.Tyr75=) single nucleotide variant Cardiovascular phenotype [RCV002443687] Chr19:49166173 [GRCh38]
Chr19:49669430 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2758A>C (p.Ile920Leu) single nucleotide variant Cardiovascular phenotype [RCV002439436] Chr19:49200412 [GRCh38]
Chr19:49703669 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3216_3217delinsA (p.Ala1074fs) indel Cardiovascular phenotype [RCV002324637]|not provided [RCV002464649] Chr19:49210293..49210294 [GRCh38]
Chr19:49713550..49713551 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1400C>T (p.Ala467Val) single nucleotide variant Cardiovascular phenotype [RCV002389266] Chr19:49182714 [GRCh38]
Chr19:49685971 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3252C>T (p.His1084=) single nucleotide variant Cardiovascular phenotype [RCV002324900] Chr19:49210329 [GRCh38]
Chr19:49713586 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1912G>A (p.Ala638Thr) single nucleotide variant Cardiovascular phenotype [RCV002410558] Chr19:49188984 [GRCh38]
Chr19:49692241 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2778+2T>C single nucleotide variant Cardiovascular phenotype [RCV002439677] Chr19:49200434 [GRCh38]
Chr19:49703691 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2263C>T (p.Arg755Cys) single nucleotide variant Cardiovascular phenotype [RCV002443773] Chr19:49196492 [GRCh38]
Chr19:49699749 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2513G>A (p.Gly838Asp) single nucleotide variant Progressive familial heart block type IB [RCV002299502] Chr19:49196742 [GRCh38]
Chr19:49699999 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.946G>A (p.Glu316Lys) single nucleotide variant Cardiovascular phenotype [RCV002443499] Chr19:49171665 [GRCh38]
Chr19:49674922 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1759T>A (p.Ser587Thr) single nucleotide variant Cardiovascular phenotype [RCV002407589]|Progressive familial heart block type IB [RCV003097217] Chr19:49188656 [GRCh38]
Chr19:49691913 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2245G>T (p.Val749Phe) single nucleotide variant Progressive familial heart block type IB [RCV002730225] Chr19:49196474 [GRCh38]
Chr19:49699731 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3617C>T (p.Pro1206Leu) single nucleotide variant Cardiovascular phenotype [RCV004068679]|Progressive familial heart block type IB [RCV003032671] Chr19:49211246 [GRCh38]
Chr19:49714503 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2645+10C>T single nucleotide variant Progressive familial heart block type IB [RCV002995640] Chr19:49196884 [GRCh38]
Chr19:49700141 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1622C>T (p.Ser541Leu) single nucleotide variant Progressive familial heart block type IB [RCV002994995] Chr19:49183091 [GRCh38]
Chr19:49686348 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2718G>A (p.Leu906=) single nucleotide variant Progressive familial heart block type IB [RCV003074746] Chr19:49200372 [GRCh38]
Chr19:49703629 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1683C>G (p.Asp561Glu) single nucleotide variant Cardiovascular phenotype [RCV004071726]|Progressive familial heart block type IB [RCV003075054] Chr19:49183152 [GRCh38]
Chr19:49686409 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.93-17C>T single nucleotide variant Progressive familial heart block type IB [RCV003074881] Chr19:49166024 [GRCh38]
Chr19:49669281 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3131+8C>T single nucleotide variant Progressive familial heart block type IB [RCV002615283] Chr19:49202149 [GRCh38]
Chr19:49705406 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1458C>A (p.Thr486=) single nucleotide variant Progressive familial heart block type IB [RCV003017517] Chr19:49182772 [GRCh38]
Chr19:49686029 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.271C>T (p.Leu91Phe) single nucleotide variant Cardiovascular phenotype [RCV004112707] Chr19:49167920 [GRCh38]
Chr19:49671177 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1276G>A (p.Glu426Lys) single nucleotide variant Progressive familial heart block type IB [RCV002972588] Chr19:49182590 [GRCh38]
Chr19:49685847 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.796+16del deletion Progressive familial heart block type IB [RCV002837724] Chr19:49168750 [GRCh38]
Chr19:49672007 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.796+10C>T single nucleotide variant Progressive familial heart block type IB [RCV003076899] Chr19:49168746 [GRCh38]
Chr19:49672003 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.468G>A (p.Gly156=) single nucleotide variant Progressive familial heart block type IB [RCV002685798] Chr19:49168279 [GRCh38]
Chr19:49671536 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.613-12T>C single nucleotide variant Progressive familial heart block type IB [RCV002815330] Chr19:49168541 [GRCh38]
Chr19:49671798 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.850A>T (p.Met284Leu) single nucleotide variant Progressive familial heart block type IB [RCV002967900] Chr19:49171410 [GRCh38]
Chr19:49674667 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2906_2907delinsCC (p.Arg969Pro) indel Progressive familial heart block type IB [RCV002903343] Chr19:49200738..49200739 [GRCh38]
Chr19:49703995..49703996 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2697_2699dup (p.Phe899_Met900insIle) duplication Progressive familial heart block type IB [RCV002880599] Chr19:49200349..49200350 [GRCh38]
Chr19:49703606..49703607 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1050+15G>C single nucleotide variant Progressive familial heart block type IB [RCV002862938] Chr19:49171784 [GRCh38]
Chr19:49675041 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3328+10G>A single nucleotide variant Progressive familial heart block type IB [RCV002861261] Chr19:49210415 [GRCh38]
Chr19:49713672 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2453A>T (p.Tyr818Phe) single nucleotide variant Progressive familial heart block type IB [RCV003012526] Chr19:49196682 [GRCh38]
Chr19:49699939 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1137G>A (p.Lys379=) single nucleotide variant Progressive familial heart block type IB [RCV003034246] Chr19:49172095 [GRCh38]
Chr19:49675352 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.858+12C>T single nucleotide variant Progressive familial heart block type IB [RCV002755723] Chr19:49171430 [GRCh38]
Chr19:49674687 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.92+13C>T single nucleotide variant Progressive familial heart block type IB [RCV002838391] Chr19:49158272 [GRCh38]
Chr19:49661529 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.51_61del (p.Lys17fs) deletion Progressive familial heart block type IB [RCV003075759] Chr19:49158217..49158227 [GRCh38]
Chr19:49661474..49661484 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1609-20A>T single nucleotide variant Progressive familial heart block type IB [RCV003095431] Chr19:49183058 [GRCh38]
Chr19:49686315 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3432C>T (p.Asp1144=) single nucleotide variant Progressive familial heart block type IB [RCV002785983] Chr19:49210813 [GRCh38]
Chr19:49714070 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2751G>A (p.Gly917=) single nucleotide variant Progressive familial heart block type IB [RCV002889831] Chr19:49200405 [GRCh38]
Chr19:49703662 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2531del (p.Gly844fs) deletion Progressive familial heart block type IB [RCV003020904] Chr19:49196756 [GRCh38]
Chr19:49700013 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1050+15G>T single nucleotide variant Progressive familial heart block type IB [RCV002927412] Chr19:49171784 [GRCh38]
Chr19:49675041 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1944C>A (p.Leu648=) single nucleotide variant Progressive familial heart block type IB [RCV003003307] Chr19:49189016 [GRCh38]
Chr19:49692273 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1654G>A (p.Ala552Thr) single nucleotide variant Cardiovascular phenotype [RCV003162056]|Progressive familial heart block type IB [RCV002640262] Chr19:49183123 [GRCh38]
Chr19:49686380 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2267C>A (p.Pro756Gln) single nucleotide variant Progressive familial heart block type IB [RCV002623021] Chr19:49196496 [GRCh38]
Chr19:49699753 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2953G>A (p.Val985Met) single nucleotide variant Progressive familial heart block type IB [RCV002640461] Chr19:49200785 [GRCh38]
Chr19:49704042 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3462-1G>T single nucleotide variant Progressive familial heart block type IB [RCV002740433] Chr19:49211014 [GRCh38]
Chr19:49714271 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3261C>G (p.Leu1087=) single nucleotide variant Progressive familial heart block type IB [RCV002847524] Chr19:49210338 [GRCh38]
Chr19:49713595 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.100T>C (p.Leu34=) single nucleotide variant Cardiovascular phenotype [RCV004990809]|Progressive familial heart block type IB [RCV002621712] Chr19:49166048 [GRCh38]
Chr19:49669305 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3280_3281delinsCC (p.Arg1094Pro) indel Progressive familial heart block type IB [RCV003055565] Chr19:49210357..49210358 [GRCh38]
Chr19:49713614..49713615 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.248C>G (p.Ala83Gly) single nucleotide variant Progressive familial heart block type IB [RCV002695392] Chr19:49166196 [GRCh38]
Chr19:49669453 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3449G>A (p.Arg1150His) single nucleotide variant Progressive familial heart block type IB [RCV002953525] Chr19:49210830 [GRCh38]
Chr19:49714087 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1254C>G (p.Ile418Met) single nucleotide variant Cardiovascular phenotype [RCV004992480]|Progressive familial heart block type IB [RCV003079209] Chr19:49181452 [GRCh38]
Chr19:49684709 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2274C>T (p.Cys758=) single nucleotide variant Progressive familial heart block type IB [RCV002637180] Chr19:49196503 [GRCh38]
Chr19:49699760 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2226C>T (p.Ala742=) single nucleotide variant Progressive familial heart block type IB [RCV002622381] Chr19:49196455 [GRCh38]
Chr19:49699712 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3609G>C (p.Gly1203=) single nucleotide variant Progressive familial heart block type IB [RCV003035552] Chr19:49211238 [GRCh38]
Chr19:49714495 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2020-5C>G single nucleotide variant Progressive familial heart block type IB [RCV002975813] Chr19:49190203 [GRCh38]
Chr19:49693460 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1546G>C (p.Ala516Pro) single nucleotide variant Progressive familial heart block type IB [RCV003037152] Chr19:49182860 [GRCh38]
Chr19:49686117 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3558G>C (p.Leu1186=) single nucleotide variant Progressive familial heart block type IB [RCV002735485] Chr19:49211187 [GRCh38]
Chr19:49714444 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2532C>A (p.Gly844=) single nucleotide variant Progressive familial heart block type IB [RCV002795413] Chr19:49196761 [GRCh38]
Chr19:49700018 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.366G>C (p.Leu122=) single nucleotide variant Progressive familial heart block type IB [RCV003100393] Chr19:49168015 [GRCh38]
Chr19:49671272 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1195_1202del (p.Leu399fs) deletion Progressive familial heart block type IB [RCV002620737] Chr19:49181391..49181398 [GRCh38]
Chr19:49684648..49684655 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2778+7C>A single nucleotide variant Progressive familial heart block type IB [RCV002591531] Chr19:49200439 [GRCh38]
Chr19:49703696 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3002C>T (p.Ala1001Val) single nucleotide variant Cardiovascular phenotype [RCV004065233]|Progressive familial heart block type IB [RCV002998888]|not provided [RCV004784086] Chr19:49202012 [GRCh38]
Chr19:49705269 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3038C>T (p.Ser1013Phe) single nucleotide variant Progressive familial heart block type IB [RCV003019083] Chr19:49202048 [GRCh38]
Chr19:49705305 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2196G>A (p.Gly732=) single nucleotide variant Progressive familial heart block type IB [RCV002846759] Chr19:49190759 [GRCh38]
Chr19:49694016 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3329-14G>T single nucleotide variant Progressive familial heart block type IB [RCV002637323] Chr19:49210696 [GRCh38]
Chr19:49713953 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1051-3C>T single nucleotide variant Progressive familial heart block type IB [RCV002795887] Chr19:49172006 [GRCh38]
Chr19:49675263 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2535C>T (p.Pro845=) single nucleotide variant Progressive familial heart block type IB [RCV002780982] Chr19:49196764 [GRCh38]
Chr19:49700021 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2954-20C>T single nucleotide variant Progressive familial heart block type IB [RCV002690711] Chr19:49201944 [GRCh38]
Chr19:49705201 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.792G>C (p.Val264=) single nucleotide variant Cardiovascular phenotype [RCV004064763]|Progressive familial heart block type IB [RCV002781112] Chr19:49168732 [GRCh38]
Chr19:49671989 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1486G>A (p.Ala496Thr) single nucleotide variant Progressive familial heart block type IB [RCV002927348] Chr19:49182800 [GRCh38]
Chr19:49686057 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2532C>T (p.Gly844=) single nucleotide variant Progressive familial heart block type IB [RCV002953292] Chr19:49196761 [GRCh38]
Chr19:49700018 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.779A>G (p.Gln260Arg) single nucleotide variant Progressive familial heart block type IB [RCV002953303] Chr19:49168719 [GRCh38]
Chr19:49671976 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2585A>G (p.Asp862Gly) single nucleotide variant Progressive familial heart block type IB [RCV002735512] Chr19:49196814 [GRCh38]
Chr19:49700071 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3135_3138dup (p.Phe1047fs) microsatellite Progressive familial heart block type IB [RCV003035883] Chr19:49210210..49210211 [GRCh38]
Chr19:49713467..49713468 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2020-5dup duplication Progressive familial heart block type IB [RCV002785380] Chr19:49190197..49190198 [GRCh38]
Chr19:49693454..49693455 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.1435C>A (p.Gln479Lys) single nucleotide variant Progressive familial heart block type IB [RCV003037794] Chr19:49182749 [GRCh38]
Chr19:49686006 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2837T>C (p.Val946Ala) single nucleotide variant Progressive familial heart block type IB [RCV002953195] Chr19:49200669 [GRCh38]
Chr19:49703926 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.25-14G>T single nucleotide variant Progressive familial heart block type IB [RCV003054633] Chr19:49158178 [GRCh38]
Chr19:49661435 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1518G>C (p.Val506=) single nucleotide variant Progressive familial heart block type IB [RCV002823805] Chr19:49182832 [GRCh38]
Chr19:49686089 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3180G>C (p.Ala1060=) single nucleotide variant Progressive familial heart block type IB [RCV002952831] Chr19:49210257 [GRCh38]
Chr19:49713514 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1832G>A (p.Arg611Gln) single nucleotide variant Progressive familial heart block type IB [RCV002785491] Chr19:49188729 [GRCh38]
Chr19:49691986 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3557T>A (p.Leu1186Gln) single nucleotide variant Progressive familial heart block type IB [RCV002976596] Chr19:49211186 [GRCh38]
Chr19:49714443 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1500C>T (p.Pro500=) single nucleotide variant Cardiovascular phenotype [RCV004990981]|Progressive familial heart block type IB [RCV003053785] Chr19:49182814 [GRCh38]
Chr19:49686071 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.83C>T (p.Thr28Ile) single nucleotide variant Progressive familial heart block type IB [RCV002735227]|not provided [RCV004765555] Chr19:49158250 [GRCh38]
Chr19:49661507 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1050+16_1050+17insTGGC insertion Progressive familial heart block type IB [RCV002695259] Chr19:49171782..49171783 [GRCh38]
Chr19:49675039..49675040 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2226C>A (p.Ala742=) single nucleotide variant Progressive familial heart block type IB [RCV002735896] Chr19:49196455 [GRCh38]
Chr19:49699712 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2410G>A (p.Asp804Asn) single nucleotide variant Progressive familial heart block type IB [RCV002913210] Chr19:49196639 [GRCh38]
Chr19:49699896 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1051-15C>A single nucleotide variant Progressive familial heart block type IB [RCV002927550] Chr19:49171994 [GRCh38]
Chr19:49675251 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1609-16C>T single nucleotide variant Progressive familial heart block type IB [RCV003077671] Chr19:49183062 [GRCh38]
Chr19:49686319 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3051C>A (p.Asn1017Lys) single nucleotide variant Progressive familial heart block type IB [RCV003079472] Chr19:49202061 [GRCh38]
Chr19:49705318 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.479C>G (p.Thr160Arg) single nucleotide variant Progressive familial heart block type IB [RCV003019980] Chr19:49168290 [GRCh38]
Chr19:49671547 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3276G>T (p.Leu1092Phe) single nucleotide variant Progressive familial heart block type IB [RCV002636852] Chr19:49210353 [GRCh38]
Chr19:49713610 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.542C>T (p.Thr181Ile) single nucleotide variant Cardiovascular phenotype [RCV004992532]|Progressive familial heart block type IB [RCV002621007]|TRPM4-related disorder [RCV004733597] Chr19:49168353 [GRCh38]
Chr19:49671610 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3439C>T (p.Arg1147Cys) single nucleotide variant Progressive familial heart block type IB [RCV003002763] Chr19:49210820 [GRCh38]
Chr19:49714077 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3328+16G>A single nucleotide variant Progressive familial heart block type IB [RCV002949018] Chr19:49210421 [GRCh38]
Chr19:49713678 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3191G>A (p.Arg1064His) single nucleotide variant Cardiovascular phenotype [RCV004992453]|Progressive familial heart block type IB [RCV003036821] Chr19:49210268 [GRCh38]
Chr19:49713525 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1508T>C (p.Val503Ala) single nucleotide variant Progressive familial heart block type IB [RCV003017782] Chr19:49182822 [GRCh38]
Chr19:49686079 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.796+15C>T single nucleotide variant Progressive familial heart block type IB [RCV002637864] Chr19:49168751 [GRCh38]
Chr19:49672008 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2133-19G>A single nucleotide variant Progressive familial heart block type IB [RCV002952803] Chr19:49190677 [GRCh38]
Chr19:49693934 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.419G>A (p.Arg140His) single nucleotide variant Progressive familial heart block type IB [RCV002780258] Chr19:49168068 [GRCh38]
Chr19:49671325 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3641-2A>T single nucleotide variant Progressive familial heart block type IB [RCV003077258] Chr19:49211492 [GRCh38]
Chr19:49714749 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2055C>G (p.Ala685=) single nucleotide variant Cardiovascular phenotype [RCV004068504]|Progressive familial heart block type IB [RCV003007545] Chr19:49190243 [GRCh38]
Chr19:49693500 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.51G>T (p.Lys17Asn) single nucleotide variant Progressive familial heart block type IB [RCV003039863] Chr19:49158218 [GRCh38]
Chr19:49661475 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.449-13G>A single nucleotide variant Progressive familial heart block type IB [RCV002985709] Chr19:49168247 [GRCh38]
Chr19:49671504 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.405G>A (p.Gln135=) single nucleotide variant Cardiovascular phenotype [RCV004067048]|Progressive familial heart block type IB [RCV002932904] Chr19:49168054 [GRCh38]
Chr19:49671311 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2486T>G (p.Leu829Arg) single nucleotide variant Cardiovascular phenotype [RCV004108835] Chr19:49196715 [GRCh38]
Chr19:49699972 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3383A>G (p.His1128Arg) single nucleotide variant Progressive familial heart block type IB [RCV002932898] Chr19:49210764 [GRCh38]
Chr19:49714021 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2682C>T (p.Val894=) single nucleotide variant Progressive familial heart block type IB [RCV002576036] Chr19:49200336 [GRCh38]
Chr19:49703593 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3214C>T (p.Arg1072Trp) single nucleotide variant Progressive familial heart block type IB [RCV003007437] Chr19:49210291 [GRCh38]
Chr19:49713548 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3641-5C>T single nucleotide variant Progressive familial heart block type IB [RCV002596502] Chr19:49211489 [GRCh38]
Chr19:49714746 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1747T>G (p.Ser583Ala) single nucleotide variant Cardiovascular phenotype [RCV004096598]|Progressive familial heart block type IB [RCV005059241] Chr19:49188644 [GRCh38]
Chr19:49691901 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.512G>A (p.Arg171Gln) single nucleotide variant Cardiovascular phenotype [RCV004224133]|not provided [RCV005416681] Chr19:49168323 [GRCh38]
Chr19:49671580 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.448+7G>A single nucleotide variant Progressive familial heart block type IB [RCV003082454] Chr19:49168104 [GRCh38]
Chr19:49671361 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2890C>A (p.Arg964Ser) single nucleotide variant Cardiovascular phenotype [RCV004681597]|Progressive familial heart block type IB [RCV003005281] Chr19:49200722 [GRCh38]
Chr19:49703979 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.819C>T (p.Val273=) single nucleotide variant Progressive familial heart block type IB [RCV002801856] Chr19:49171379 [GRCh38]
Chr19:49674636 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.25-6C>A single nucleotide variant Progressive familial heart block type IB [RCV002643500] Chr19:49158186 [GRCh38]
Chr19:49661443 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.858+17G>A single nucleotide variant Progressive familial heart block type IB [RCV003022319] Chr19:49171435 [GRCh38]
Chr19:49674692 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2645+12G>C single nucleotide variant Progressive familial heart block type IB [RCV002802016] Chr19:49196886 [GRCh38]
Chr19:49700143 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3250C>T (p.His1084Tyr) single nucleotide variant Progressive familial heart block type IB [RCV002828984] Chr19:49210327 [GRCh38]
Chr19:49713584 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.48G>C (p.Lys16Asn) single nucleotide variant Progressive familial heart block type IB [RCV003083475] Chr19:49158215 [GRCh38]
Chr19:49661472 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1774G>A (p.Ala592Thr) single nucleotide variant Cardiovascular phenotype [RCV003308434]|Progressive familial heart block type IB [RCV003041578] Chr19:49188671 [GRCh38]
Chr19:49691928 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.144C>T (p.Ala48=) single nucleotide variant Cardiovascular phenotype [RCV004072097]|Progressive familial heart block type IB [RCV002663957] Chr19:49166092 [GRCh38]
Chr19:49669349 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3221C>T (p.Ala1074Val) single nucleotide variant Cardiovascular phenotype [RCV003308347]|Progressive familial heart block type IB [RCV002928221] Chr19:49210298 [GRCh38]
Chr19:49713555 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2675G>A (p.Arg892His) single nucleotide variant Cardiovascular phenotype [RCV004992538]|Progressive familial heart block type IB [RCV002624082] Chr19:49200329 [GRCh38]
Chr19:49703586 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1609-3C>T single nucleotide variant Progressive familial heart block type IB [RCV002642459] Chr19:49183075 [GRCh38]
Chr19:49686332 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1672C>G (p.Pro558Ala) single nucleotide variant Progressive familial heart block type IB [RCV003083682] Chr19:49183141 [GRCh38]
Chr19:49686398 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3170A>G (p.Tyr1057Cys) single nucleotide variant Cardiovascular phenotype [RCV004686753]|Progressive familial heart block type IB [RCV002982818] Chr19:49210247 [GRCh38]
Chr19:49713504 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1609-16del deletion Progressive familial heart block type IB [RCV003022325] Chr19:49183059 [GRCh38]
Chr19:49686316 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.858+9del deletion Progressive familial heart block type IB [RCV002766861] Chr19:49171424 [GRCh38]
Chr19:49674681 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.486C>T (p.Ile162=) single nucleotide variant Cardiovascular phenotype [RCV004992483]|Progressive familial heart block type IB [RCV003085446] Chr19:49168297 [GRCh38]
Chr19:49671554 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1887G>C (p.Glu629Asp) single nucleotide variant Progressive familial heart block type IB [RCV002851117] Chr19:49188959 [GRCh38]
Chr19:49692216 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2188A>T (p.Ile730Phe) single nucleotide variant Progressive familial heart block type IB [RCV003007850] Chr19:49190751 [GRCh38]
Chr19:49694008 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1835G>A (p.Arg612Lys) single nucleotide variant Progressive familial heart block type IB [RCV002594215] Chr19:49188732 [GRCh38]
Chr19:49691989 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2646-17A>G single nucleotide variant Progressive familial heart block type IB [RCV002890515] Chr19:49200283 [GRCh38]
Chr19:49703540 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1608+4A>G single nucleotide variant Progressive familial heart block type IB [RCV002876186] Chr19:49182926 [GRCh38]
Chr19:49686183 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2607A>G (p.Leu869=) single nucleotide variant Cardiovascular phenotype [RCV004676134]|Progressive familial heart block type IB [RCV003083898] Chr19:49196836 [GRCh38]
Chr19:49700093 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1051-14del deletion Progressive familial heart block type IB [RCV003057875] Chr19:49171995 [GRCh38]
Chr19:49675252 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2645+11C>T single nucleotide variant Progressive familial heart block type IB [RCV002805452] Chr19:49196885 [GRCh38]
Chr19:49700142 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2304C>T (p.Cys768=) single nucleotide variant Progressive familial heart block type IB [RCV003084526] Chr19:49196533 [GRCh38]
Chr19:49699790 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3640+16C>T single nucleotide variant Progressive familial heart block type IB [RCV003083633] Chr19:49211285 [GRCh38]
Chr19:49714542 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.707A>G (p.Asp236Gly) single nucleotide variant Cardiovascular phenotype [RCV004066224]|Progressive familial heart block type IB [RCV002918361] Chr19:49168647 [GRCh38]
Chr19:49671904 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3562dup (p.Trp1188fs) duplication Progressive familial heart block type IB [RCV003082849] Chr19:49211190..49211191 [GRCh38]
Chr19:49714447..49714448 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1873+17G>A single nucleotide variant Progressive familial heart block type IB [RCV002791013] Chr19:49188787 [GRCh38]
Chr19:49692044 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2953+14C>A single nucleotide variant Progressive familial heart block type IB [RCV002629175] Chr19:49200799 [GRCh38]
Chr19:49704056 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.371G>C (p.Gly124Ala) single nucleotide variant Progressive familial heart block type IB [RCV002941886] Chr19:49168020 [GRCh38]
Chr19:49671277 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3142G>A (p.Gly1048Ser) single nucleotide variant Progressive familial heart block type IB [RCV002649993] Chr19:49210219 [GRCh38]
Chr19:49713476 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3114G>A (p.Leu1038=) single nucleotide variant Progressive familial heart block type IB [RCV002811723] Chr19:49202124 [GRCh38]
Chr19:49705381 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.914G>C (p.Gly305Ala) single nucleotide variant Progressive familial heart block type IB [RCV002676626] Chr19:49171633 [GRCh38]
Chr19:49674890 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1963C>T (p.Leu655Phe) single nucleotide variant Cardiovascular phenotype [RCV004173284] Chr19:49189035 [GRCh38]
Chr19:49692292 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2901C>A (p.Phe967Leu) single nucleotide variant Progressive familial heart block type IB [RCV003091474] Chr19:49200733 [GRCh38]
Chr19:49703990 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1375C>T (p.Arg459Cys) single nucleotide variant Progressive familial heart block type IB [RCV003089661] Chr19:49182689 [GRCh38]
Chr19:49685946 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.612+6A>T single nucleotide variant Progressive familial heart block type IB [RCV002581674] Chr19:49168429 [GRCh38]
Chr19:49671686 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2211-11T>C single nucleotide variant Progressive familial heart block type IB [RCV002834252] Chr19:49196429 [GRCh38]
Chr19:49699686 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1512del (p.His505fs) deletion Progressive familial heart block type IB [RCV003047234] Chr19:49182823 [GRCh38]
Chr19:49686080 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3151C>T (p.Gln1051Ter) single nucleotide variant Progressive familial heart block type IB [RCV002647499] Chr19:49210228 [GRCh38]
Chr19:49713485 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1497G>A (p.Arg499=) single nucleotide variant Progressive familial heart block type IB [RCV002647759] Chr19:49182811 [GRCh38]
Chr19:49686068 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2250G>A (p.Pro750=) single nucleotide variant Progressive familial heart block type IB [RCV002962498] Chr19:49196479 [GRCh38]
Chr19:49699736 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1666C>T (p.Gln556Ter) single nucleotide variant Progressive familial heart block type IB [RCV003047006] Chr19:49183135 [GRCh38]
Chr19:49686392 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2133-11C>G single nucleotide variant Progressive familial heart block type IB [RCV003045707] Chr19:49190685 [GRCh38]
Chr19:49693942 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2321A>C (p.His774Pro) single nucleotide variant Progressive familial heart block type IB [RCV002599863] Chr19:49196550 [GRCh38]
Chr19:49699807 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.401T>G (p.Leu134Arg) single nucleotide variant Cardiovascular phenotype [RCV004140943] Chr19:49168050 [GRCh38]
Chr19:49671307 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.962_982dup (p.Arg327_Gln328insProGlySerGlyGlyAlaArg) duplication Progressive familial heart block type IB [RCV003062793] Chr19:49171679..49171680 [GRCh38]
Chr19:49674936..49674937 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.521dup (p.Met175fs) duplication Progressive familial heart block type IB [RCV002834471] Chr19:49168331..49168332 [GRCh38]
Chr19:49671588..49671589 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1609-13C>G single nucleotide variant Progressive familial heart block type IB [RCV003044260] Chr19:49183065 [GRCh38]
Chr19:49686322 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3519A>G (p.Lys1173=) single nucleotide variant Progressive familial heart block type IB [RCV003061132] Chr19:49211072 [GRCh38]
Chr19:49714329 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3462-15G>T single nucleotide variant Progressive familial heart block type IB [RCV003044011] Chr19:49211000 [GRCh38]
Chr19:49714257 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.995G>A (p.Arg332Gln) single nucleotide variant Cardiovascular phenotype [RCV004990953]|Progressive familial heart block type IB [RCV003009075] Chr19:49171714 [GRCh38]
Chr19:49674971 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.796+10C>G single nucleotide variant Progressive familial heart block type IB [RCV002937620] Chr19:49168746 [GRCh38]
Chr19:49672003 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.107dup (p.Cys37fs) duplication Progressive familial heart block type IB [RCV002578054] Chr19:49166054..49166055 [GRCh38]
Chr19:49669311..49669312 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1744-14C>T single nucleotide variant Progressive familial heart block type IB [RCV002834254] Chr19:49188627 [GRCh38]
Chr19:49691884 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.86A>G (p.Asp29Gly) single nucleotide variant Progressive familial heart block type IB [RCV003063818] Chr19:49158253 [GRCh38]
Chr19:49661510 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1609-15dup duplication Progressive familial heart block type IB [RCV003030442] Chr19:49183062..49183063 [GRCh38]
Chr19:49686319..49686320 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2673C>T (p.Gly891=) single nucleotide variant Progressive familial heart block type IB [RCV002632085] Chr19:49200327 [GRCh38]
Chr19:49703584 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1951G>T (p.Asp651Tyr) single nucleotide variant Progressive familial heart block type IB [RCV003030169] Chr19:49189023 [GRCh38]
Chr19:49692280 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1748C>A (p.Ser583Tyr) single nucleotide variant Cardiovascular phenotype [RCV004103412] Chr19:49188645 [GRCh38]
Chr19:49691902 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3472G>C (p.Ala1158Pro) single nucleotide variant Progressive familial heart block type IB [RCV003047637] Chr19:49211025 [GRCh38]
Chr19:49714282 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1874-20A>G single nucleotide variant Progressive familial heart block type IB [RCV003090857] Chr19:49188926 [GRCh38]
Chr19:49692183 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2947A>G (p.Met983Val) single nucleotide variant Progressive familial heart block type IB [RCV002857527] Chr19:49200779 [GRCh38]
Chr19:49704036 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1499_1506dup (p.Val503fs) duplication Progressive familial heart block type IB [RCV002962921] Chr19:49182811..49182812 [GRCh38]
Chr19:49686068..49686069 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2280G>T (p.Gly760=) single nucleotide variant Progressive familial heart block type IB [RCV003063331] Chr19:49196509 [GRCh38]
Chr19:49699766 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3461+9G>A single nucleotide variant Progressive familial heart block type IB [RCV002580007] Chr19:49210851 [GRCh38]
Chr19:49714108 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3329-15C>T single nucleotide variant Progressive familial heart block type IB [RCV002675899] Chr19:49210695 [GRCh38]
Chr19:49713952 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1769T>C (p.Leu590Pro) single nucleotide variant Progressive familial heart block type IB [RCV002631950] Chr19:49188666 [GRCh38]
Chr19:49691923 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2020-18C>T single nucleotide variant Progressive familial heart block type IB [RCV002676345] Chr19:49190190 [GRCh38]
Chr19:49693447 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2435C>T (p.Ser812Phe) single nucleotide variant Progressive familial heart block type IB [RCV003044536] Chr19:49196664 [GRCh38]
Chr19:49699921 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.254G>A (p.Arg85His) single nucleotide variant Progressive familial heart block type IB [RCV003091077] Chr19:49166202 [GRCh38]
Chr19:49669459 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3421C>T (p.Arg1141Trp) single nucleotide variant Progressive familial heart block type IB [RCV002650993] Chr19:49210802 [GRCh38]
Chr19:49714059 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3420_3421delinsTT (p.Lys1140_Arg1141delinsAsnTrp) indel Progressive familial heart block type IB [RCV003049080] Chr19:49210801..49210802 [GRCh38]
Chr19:49714058..49714059 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1259G>A (p.Trp420Ter) single nucleotide variant Progressive familial heart block type IB [RCV002676234] Chr19:49181457 [GRCh38]
Chr19:49684714 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.448+16T>G single nucleotide variant Progressive familial heart block type IB [RCV002963406] Chr19:49168113 [GRCh38]
Chr19:49671370 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1149G>C (p.Lys383Asn) single nucleotide variant Progressive familial heart block type IB [RCV003087590] Chr19:49172107 [GRCh38]
Chr19:49675364 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1874-7G>A single nucleotide variant Progressive familial heart block type IB [RCV002966568] Chr19:49188939 [GRCh38]
Chr19:49692196 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1950G>A (p.Gly650=) single nucleotide variant Cardiovascular phenotype [RCV004071878]|Progressive familial heart block type IB [RCV003069912] Chr19:49189022 [GRCh38]
Chr19:49692279 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2394G>A (p.Ser798=) single nucleotide variant Progressive familial heart block type IB [RCV002634088] Chr19:49196623 [GRCh38]
Chr19:49699880 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3496C>A (p.Arg1166Ser) single nucleotide variant Cardiovascular phenotype [RCV004087173] Chr19:49211049 [GRCh38]
Chr19:49714306 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1335T>C (p.Ile445=) single nucleotide variant Progressive familial heart block type IB [RCV002653241] Chr19:49182649 [GRCh38]
Chr19:49685906 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3328+8C>T single nucleotide variant Progressive familial heart block type IB [RCV002814652] Chr19:49210413 [GRCh38]
Chr19:49713670 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2296C>T (p.Arg766Cys) single nucleotide variant Progressive familial heart block type IB [RCV002654449] Chr19:49196525 [GRCh38]
Chr19:49699782 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.858+20C>T single nucleotide variant Progressive familial heart block type IB [RCV002658308] Chr19:49171438 [GRCh38]
Chr19:49674695 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2017C>G (p.Gln673Glu) single nucleotide variant Progressive familial heart block type IB [RCV003050341] Chr19:49189089 [GRCh38]
Chr19:49692346 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1373T>C (p.Met458Thr) single nucleotide variant Progressive familial heart block type IB [RCV003052561] Chr19:49182687 [GRCh38]
Chr19:49685944 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2T>C (p.Met1Thr) single nucleotide variant Progressive familial heart block type IB [RCV002587998] Chr19:49157868 [GRCh38]
Chr19:49661125 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1449C>A (p.Ser483Arg) single nucleotide variant Progressive familial heart block type IB [RCV003070908] Chr19:49182763 [GRCh38]
Chr19:49686020 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2778+13C>A single nucleotide variant Progressive familial heart block type IB [RCV003072007] Chr19:49200445 [GRCh38]
Chr19:49703702 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.430C>T (p.Arg144Trp) single nucleotide variant Cardiovascular phenotype [RCV003294417]|Progressive familial heart block type IB [RCV003070928] Chr19:49168079 [GRCh38]
Chr19:49671336 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.92+5G>C single nucleotide variant Progressive familial heart block type IB [RCV003071073] Chr19:49158264 [GRCh38]
Chr19:49661521 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3065T>C (p.Leu1022Pro) single nucleotide variant Progressive familial heart block type IB [RCV003051390] Chr19:49202075 [GRCh38]
Chr19:49705332 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3627G>A (p.Leu1209=) single nucleotide variant Progressive familial heart block type IB [RCV003071167] Chr19:49211256 [GRCh38]
Chr19:49714513 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.421G>T (p.Gly141Trp) single nucleotide variant Cardiovascular phenotype [RCV004068945]|Progressive familial heart block type IB [RCV002606271] Chr19:49168070 [GRCh38]
Chr19:49671327 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1669G>A (p.Ala557Thr) single nucleotide variant Progressive familial heart block type IB [RCV002586504] Chr19:49183138 [GRCh38]
Chr19:49686395 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3559G>C (p.Gly1187Arg) single nucleotide variant Progressive familial heart block type IB [RCV002611327] Chr19:49211188 [GRCh38]
Chr19:49714445 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2375T>A (p.Leu792Gln) single nucleotide variant Progressive familial heart block type IB [RCV002944249] Chr19:49196604 [GRCh38]
Chr19:49699861 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2562G>A (p.Gln854=) single nucleotide variant Progressive familial heart block type IB [RCV002587843] Chr19:49196791 [GRCh38]
Chr19:49700048 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.534T>G (p.Thr178=) single nucleotide variant Progressive familial heart block type IB [RCV002633253] Chr19:49168345 [GRCh38]
Chr19:49671602 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1608+11G>A single nucleotide variant Progressive familial heart block type IB [RCV003070987] Chr19:49182933 [GRCh38]
Chr19:49686190 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1051-18G>C single nucleotide variant Progressive familial heart block type IB [RCV002634606] Chr19:49171991 [GRCh38]
Chr19:49675248 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.738G>C (p.Glu246Asp) single nucleotide variant Cardiovascular phenotype [RCV004287185] Chr19:49168678 [GRCh38]
Chr19:49671935 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3025G>C (p.Gly1009Arg) single nucleotide variant Cardiovascular phenotype [RCV004283099] Chr19:49202035 [GRCh38]
Chr19:49705292 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3621_3624dup (p.Leu1209Ter) duplication Cardiovascular phenotype [RCV003216623]|Progressive familial heart block type IB [RCV003609271] Chr19:49211248..49211249 [GRCh38]
Chr19:49714505..49714506 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.924G>A (p.Ala308=) single nucleotide variant Cardiovascular phenotype [RCV003168312]|Progressive familial heart block type IB [RCV005101022] Chr19:49171643 [GRCh38]
Chr19:49674900 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3018C>G (p.Ala1006=) single nucleotide variant Cardiovascular phenotype [RCV003168313] Chr19:49202028 [GRCh38]
Chr19:49705285 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.326C>G (p.Thr109Arg) single nucleotide variant Cardiovascular phenotype [RCV003168314] Chr19:49167975 [GRCh38]
Chr19:49671232 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1715C>A (p.Ala572Glu) single nucleotide variant Cardiovascular phenotype [RCV003181814]|Progressive familial heart block type IB [RCV005101020] Chr19:49183184 [GRCh38]
Chr19:49686441 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3550C>A (p.Arg1184Ser) single nucleotide variant Cardiovascular phenotype [RCV003181815]|Progressive familial heart block type IB [RCV003609258] Chr19:49211179 [GRCh38]
Chr19:49714436 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1418T>C (p.Ile473Thr) single nucleotide variant Cardiovascular phenotype [RCV003181816]|Progressive familial heart block type IB [RCV005101021] Chr19:49182732 [GRCh38]
Chr19:49685989 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1586C>A (p.Pro529Gln) single nucleotide variant Cardiovascular phenotype [RCV003181817] Chr19:49182900 [GRCh38]
Chr19:49686157 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3484C>T (p.Leu1162=) single nucleotide variant Cardiovascular phenotype [RCV003181818] Chr19:49211037 [GRCh38]
Chr19:49714294 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2144del (p.Glu715fs) deletion Cardiovascular phenotype [RCV003181819] Chr19:49190707 [GRCh38]
Chr19:49693964 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1507G>C (p.Val503Leu) single nucleotide variant Cardiovascular phenotype [RCV003181820]|Progressive familial heart block type IB [RCV005399274] Chr19:49182821 [GRCh38]
Chr19:49686078 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.977C>T (p.Ala326Val) single nucleotide variant Cardiovascular phenotype [RCV003181821] Chr19:49171696 [GRCh38]
Chr19:49674953 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2706C>T (p.Phe902=) single nucleotide variant Cardiovascular phenotype [RCV003181822]|Progressive familial heart block type IB [RCV003778973] Chr19:49200360 [GRCh38]
Chr19:49703617 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1744G>C (p.Gly582Arg) single nucleotide variant Cardiovascular phenotype [RCV003181823] Chr19:49188641 [GRCh38]
Chr19:49691898 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1085C>T (p.Thr362Ile) single nucleotide variant Cardiovascular phenotype [RCV003181824] Chr19:49172043 [GRCh38]
Chr19:49675300 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3081C>T (p.Phe1027=) single nucleotide variant Cardiovascular phenotype [RCV003181825] Chr19:49202091 [GRCh38]
Chr19:49705348 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2043G>A (p.Trp681Ter) single nucleotide variant Cardiovascular phenotype [RCV003216622] Chr19:49190231 [GRCh38]
Chr19:49693488 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3148G>A (p.Val1050Ile) single nucleotide variant Cardiovascular phenotype [RCV003216621]|Progressive familial heart block type IB [RCV003779765] Chr19:49210225 [GRCh38]
Chr19:49713482 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2112C>T (p.Tyr704=) single nucleotide variant Cardiovascular phenotype [RCV003216619]|Progressive familial heart block type IB [RCV003502712] Chr19:49190300 [GRCh38]
Chr19:49693557 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1097C>T (p.Ser366Phe) single nucleotide variant Cardiovascular phenotype [RCV004275876] Chr19:49172055 [GRCh38]
Chr19:49675312 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2902T>C (p.Tyr968His) single nucleotide variant not provided [RCV003229358] Chr19:49200734 [GRCh38]
Chr19:49703991 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3368C>A (p.Thr1123Lys) single nucleotide variant Cardiovascular phenotype [RCV003301664] Chr19:49210749 [GRCh38]
Chr19:49714006 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3088G>A (p.Val1030Met) single nucleotide variant Cardiovascular phenotype [RCV003301665]|Progressive familial heart block type IB [RCV003609276] Chr19:49202098 [GRCh38]
Chr19:49705355 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1601_1605dup (p.Ser536fs) duplication Cardiovascular phenotype [RCV003168311] Chr19:49182913..49182914 [GRCh38]
Chr19:49686170..49686171 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2020-1G>A single nucleotide variant not provided [RCV003142842] Chr19:49190207 [GRCh38]
Chr19:49693464 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.30G>T (p.Trp10Cys) single nucleotide variant Cardiovascular phenotype [RCV004277576] Chr19:49158197 [GRCh38]
Chr19:49661454 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2260_2264dup (p.Pro756fs) duplication not provided [RCV003323135] Chr19:49196486..49196487 [GRCh38]
Chr19:49699743..49699744 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.348C>A (p.Asn116Lys) single nucleotide variant not provided [RCV003323188] Chr19:49167997 [GRCh38]
Chr19:49671254 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2379_2387dup (p.Leu796_Phe797insLeuLeuLeu) duplication not provided [RCV003323011] Chr19:49196606..49196607 [GRCh38]
Chr19:49699863..49699864 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1802G>A (p.Arg601His) single nucleotide variant Progressive familial heart block type IB [RCV003777327]|not provided [RCV003323007] Chr19:49188699 [GRCh38]
Chr19:49691956 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.337C>T (p.Arg113Cys) single nucleotide variant Primary dilated cardiomyopathy [RCV003319258]|Progressive familial heart block type IB [RCV005102472]|not specified [RCV005240734] Chr19:49167986 [GRCh38]
Chr19:49671243 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3452C>T (p.Thr1151Met) single nucleotide variant not provided [RCV003325686] Chr19:49210833 [GRCh38]
Chr19:49714090 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2267C>T (p.Pro756Leu) single nucleotide variant not provided [RCV003329782] Chr19:49196496 [GRCh38]
Chr19:49699753 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1642C>T (p.Leu548Phe) single nucleotide variant not provided [RCV003325899] Chr19:49183111 [GRCh38]
Chr19:49686368 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.852G>A (p.Met284Ile) single nucleotide variant Cardiovascular phenotype [RCV004347657]|Progressive familial heart block type IB [RCV005104106] Chr19:49171412 [GRCh38]
Chr19:49674669 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1142T>C (p.Leu381Pro) single nucleotide variant Cardiovascular phenotype [RCV004351213]|Progressive familial heart block type IB [RCV003502726] Chr19:49172100 [GRCh38]
Chr19:49675357 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1189C>T (p.Leu397=) single nucleotide variant Cardiovascular phenotype [RCV003380387] Chr19:49181387 [GRCh38]
Chr19:49684644 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1191G>C (p.Leu397=) single nucleotide variant Cardiovascular phenotype [RCV003380388] Chr19:49181389 [GRCh38]
Chr19:49684646 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.124A>G (p.Thr42Ala) single nucleotide variant Cardiovascular phenotype [RCV003380390] Chr19:49166072 [GRCh38]
Chr19:49669329 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2409G>T (p.Val803=) single nucleotide variant Cardiovascular phenotype [RCV003380391] Chr19:49196638 [GRCh38]
Chr19:49699895 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2542G>C (p.Gly848Arg) single nucleotide variant Cardiovascular phenotype [RCV003380392]|TRPM4-related disorder [RCV004529631] Chr19:49196771 [GRCh38]
Chr19:49700028 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3131+1G>T single nucleotide variant Cardiovascular phenotype [RCV003380374] Chr19:49202142 [GRCh38]
Chr19:49705399 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3042G>C (p.Gln1014His) single nucleotide variant Cardiovascular phenotype [RCV003380376] Chr19:49202052 [GRCh38]
Chr19:49705309 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3G>C (p.Met1Ile) single nucleotide variant Cardiovascular phenotype [RCV003380380] Chr19:49157869 [GRCh38]
Chr19:49661126 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1491G>T (p.Glu497Asp) single nucleotide variant Cardiovascular phenotype [RCV003380375] Chr19:49182805 [GRCh38]
Chr19:49686062 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2512G>A (p.Gly838Ser) single nucleotide variant Cardiovascular phenotype [RCV003380381]|Progressive familial heart block type IB [RCV003609290] Chr19:49196741 [GRCh38]
Chr19:49699998 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.596C>A (p.Thr199Asn) single nucleotide variant Cardiovascular phenotype [RCV003380382]|Progressive familial heart block type IB [RCV003609291]|Progressive familial heart block type IB [RCV005399358] Chr19:49168407 [GRCh38]
Chr19:49671664 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1A>C (p.Met1Leu) single nucleotide variant Cardiovascular phenotype [RCV003380383] Chr19:49157867 [GRCh38]
Chr19:49661124 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3265C>T (p.Leu1089Phe) single nucleotide variant Cardiovascular phenotype [RCV003377609] Chr19:49210342 [GRCh38]
Chr19:49713599 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3125T>G (p.Met1042Arg) single nucleotide variant Cardiovascular phenotype [RCV004358696]|Progressive familial heart block type IB [RCV003609287] Chr19:49202135 [GRCh38]
Chr19:49705392 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.267+1G>A single nucleotide variant Progressive familial heart block type IB [RCV003503732] Chr19:49166216 [GRCh38]
Chr19:49669473 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2880A>G (p.Pro960=) single nucleotide variant Progressive familial heart block type IB [RCV003503871] Chr19:49200712 [GRCh38]
Chr19:49703969 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3538C>T (p.Gln1180Ter) single nucleotide variant Progressive familial heart block type IB [RCV003503289] Chr19:49211167 [GRCh38]
Chr19:49714424 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2036A>T (p.Lys679Met) single nucleotide variant Progressive familial heart block type IB [RCV003503233] Chr19:49190224 [GRCh38]
Chr19:49693481 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.439C>G (p.Gln147Glu) single nucleotide variant Cardiovascular phenotype [RCV004369451]|Progressive familial heart block type IB [RCV003503299] Chr19:49168088 [GRCh38]
Chr19:49671345 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1263G>T (p.Arg421=) single nucleotide variant Progressive familial heart block type IB [RCV003503936] Chr19:49181461 [GRCh38]
Chr19:49684718 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2020-18C>A single nucleotide variant Progressive familial heart block type IB [RCV003504097] Chr19:49190190 [GRCh38]
Chr19:49693447 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1869C>G (p.Gly623=) single nucleotide variant Progressive familial heart block type IB [RCV003503500] Chr19:49188766 [GRCh38]
Chr19:49692023 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3142G>T (p.Gly1048Cys) single nucleotide variant Progressive familial heart block type IB [RCV003503757] Chr19:49210219 [GRCh38]
Chr19:49713476 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.502del (p.Val168fs) deletion Progressive familial heart block type IB [RCV003503633] Chr19:49168313 [GRCh38]
Chr19:49671570 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1470C>T (p.Ala490=) single nucleotide variant Progressive familial heart block type IB [RCV003504250] Chr19:49182784 [GRCh38]
Chr19:49686041 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.330G>C (p.Trp110Cys) single nucleotide variant Progressive familial heart block type IB [RCV003504260] Chr19:49167979 [GRCh38]
Chr19:49671236 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1419C>T (p.Ile473=) single nucleotide variant Progressive familial heart block type IB [RCV003504366] Chr19:49182733 [GRCh38]
Chr19:49685990 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1214G>A (p.Arg405His) single nucleotide variant Progressive familial heart block type IB [RCV003504196] Chr19:49181412 [GRCh38]
Chr19:49684669 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1320C>T (p.Phe440=) single nucleotide variant Cardiovascular phenotype [RCV004369646]|Progressive familial heart block type IB [RCV003875050] Chr19:49182634 [GRCh38]
Chr19:49685891 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2387T>C (p.Leu796Pro) single nucleotide variant Progressive familial heart block type IB [RCV003503885] Chr19:49196616 [GRCh38]
Chr19:49699873 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.371G>A (p.Gly124Glu) single nucleotide variant Progressive familial heart block type IB [RCV003503903] Chr19:49168020 [GRCh38]
Chr19:49671277 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3267C>G (p.Leu1089=) single nucleotide variant Progressive familial heart block type IB [RCV003503879] Chr19:49210344 [GRCh38]
Chr19:49713601 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2644C>T (p.Arg882Trp) single nucleotide variant Progressive familial heart block type IB [RCV003503769] Chr19:49196873 [GRCh38]
Chr19:49700130 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.652G>A (p.Glu218Lys) single nucleotide variant Progressive familial heart block type IB [RCV003504275] Chr19:49168592 [GRCh38]
Chr19:49671849 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2531G>T (p.Gly844Val) single nucleotide variant Progressive familial heart block type IB [RCV003503949] Chr19:49196760 [GRCh38]
Chr19:49700017 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.601A>C (p.Ile201Leu) single nucleotide variant Progressive familial heart block type IB [RCV003503715] Chr19:49168412 [GRCh38]
Chr19:49671669 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2814C>T (p.Gly938=) single nucleotide variant Cardiovascular phenotype [RCV004676218]|Progressive familial heart block type IB [RCV003503896] Chr19:49200646 [GRCh38]
Chr19:49703903 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1834A>C (p.Arg612=) single nucleotide variant Progressive familial heart block type IB [RCV003504404] Chr19:49188731 [GRCh38]
Chr19:49691988 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.268-7T>C single nucleotide variant Progressive familial heart block type IB [RCV003504387] Chr19:49167910 [GRCh38]
Chr19:49671167 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.93-20C>G single nucleotide variant Progressive familial heart block type IB [RCV003504306] Chr19:49166021 [GRCh38]
Chr19:49669278 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.677A>G (p.Asp226Gly) single nucleotide variant Progressive familial heart block type IB [RCV003504450] Chr19:49168617 [GRCh38]
Chr19:49671874 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2522C>T (p.Ala841Val) single nucleotide variant not provided [RCV003457043] Chr19:49196751 [GRCh38]
Chr19:49700008 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.169G>A (p.Val57Met) single nucleotide variant Cardiovascular phenotype [RCV004992653]|Progressive familial heart block type IB [RCV003504497] Chr19:49166117 [GRCh38]
Chr19:49669374 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2764A>G (p.Ile922Val) single nucleotide variant Cardiovascular phenotype [RCV004686786]|Progressive familial heart block type IB [RCV003504545] Chr19:49200418 [GRCh38]
Chr19:49703675 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1392C>T (p.Tyr464=) single nucleotide variant Progressive familial heart block type IB [RCV003504077] Chr19:49182706 [GRCh38]
Chr19:49685963 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3461+12G>A single nucleotide variant Progressive familial heart block type IB [RCV003504103] Chr19:49210854 [GRCh38]
Chr19:49714111 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.796+26_796+32del deletion Progressive familial heart block type IB [RCV003504122] Chr19:49168756..49168762 [GRCh38]
Chr19:49672013..49672019 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2075C>T (p.Ala692Val) single nucleotide variant Progressive familial heart block type IB [RCV003504116] Chr19:49190263 [GRCh38]
Chr19:49693520 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1150+9T>G single nucleotide variant Progressive familial heart block type IB [RCV003504161] Chr19:49172117 [GRCh38]
Chr19:49675374 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3535-15C>G single nucleotide variant Progressive familial heart block type IB [RCV003504162] Chr19:49211149 [GRCh38]
Chr19:49714406 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2007G>A (p.Gln669=) single nucleotide variant Progressive familial heart block type IB [RCV003504280] Chr19:49189079 [GRCh38]
Chr19:49692336 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3511C>T (p.Arg1171Cys) single nucleotide variant Cardiovascular phenotype [RCV005288991]|Progressive familial heart block type IB [RCV003504335] Chr19:49211064 [GRCh38]
Chr19:49714321 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1743+13T>G single nucleotide variant Progressive familial heart block type IB [RCV003504377] Chr19:49183225 [GRCh38]
Chr19:49686482 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1743+19C>T single nucleotide variant Progressive familial heart block type IB [RCV003504192] Chr19:49183231 [GRCh38]
Chr19:49686488 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.286C>G (p.Arg96Gly) single nucleotide variant Progressive familial heart block type IB [RCV003504569] Chr19:49167935 [GRCh38]
Chr19:49671192 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1490A>C (p.Glu497Ala) single nucleotide variant Progressive familial heart block type IB [RCV003504473] Chr19:49182804 [GRCh38]
Chr19:49686061 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.24+10G>C single nucleotide variant Progressive familial heart block type IB [RCV003504488] Chr19:49157900 [GRCh38]
Chr19:49661157 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.796+30_796+43del deletion Progressive familial heart block type IB [RCV003504505] Chr19:49168755..49168768 [GRCh38]
Chr19:49672012..49672025 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1874-9C>A single nucleotide variant Progressive familial heart block type IB [RCV003503093] Chr19:49188937 [GRCh38]
Chr19:49692194 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1096T>G (p.Ser366Ala) single nucleotide variant Progressive familial heart block type IB [RCV003502948] Chr19:49172054 [GRCh38]
Chr19:49675311 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2020-1G>C single nucleotide variant Progressive familial heart block type IB [RCV003494497] Chr19:49190207 [GRCh38]
Chr19:49693464 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3239T>G (p.Ile1080Ser) single nucleotide variant Progressive familial heart block type IB [RCV003503081] Chr19:49210316 [GRCh38]
Chr19:49713573 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2320C>T (p.His774Tyr) single nucleotide variant Progressive familial heart block type IB [RCV003503088] Chr19:49196549 [GRCh38]
Chr19:49699806 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2779-4A>G single nucleotide variant Progressive familial heart block type IB [RCV003503169] Chr19:49200607 [GRCh38]
Chr19:49703864 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2898C>G (p.Val966=) single nucleotide variant Cardiovascular phenotype [RCV005301408]|Progressive familial heart block type IB [RCV003875263] Chr19:49200730 [GRCh38]
Chr19:49703987 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2076C>A (p.Ala692=) single nucleotide variant Progressive familial heart block type IB [RCV003503542] Chr19:49190264 [GRCh38]
Chr19:49693521 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
NM_017636.4(TRPM4):c.3350C>G (p.Ala1117Gly) single nucleotide variant Progressive familial heart block type IB [RCV003825883] Chr19:49210731 [GRCh38]
Chr19:49713988 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.601A>G (p.Ile201Val) single nucleotide variant TRPM4-related disorder [RCV004528602] Chr19:49168412 [GRCh38]
Chr19:49671669 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3407G>A (p.Arg1136His) single nucleotide variant not provided [RCV003442497] Chr19:49210788 [GRCh38]
Chr19:49714045 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.380dup (p.Val129fs) duplication Cardiovascular phenotype [RCV004994466]|not provided [RCV004778444] Chr19:49168023..49168024 [GRCh38]
Chr19:49671280..49671281 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2539C>T (p.Pro847Ser) single nucleotide variant not provided [RCV003442427] Chr19:49196768 [GRCh38]
Chr19:49700025 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.135C>T (p.Pro45=) single nucleotide variant Progressive familial heart block type IB [RCV003609945] Chr19:49166083 [GRCh38]
Chr19:49669340 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1608+1G>T single nucleotide variant Progressive familial heart block type IB [RCV003610077] Chr19:49182923 [GRCh38]
Chr19:49686180 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2781G>A (p.Met927Ile) single nucleotide variant Progressive familial heart block type IB [RCV003610081] Chr19:49200613 [GRCh38]
Chr19:49703870 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2476_2477dup (p.Glu827fs) microsatellite Progressive familial heart block type IB [RCV003610197] Chr19:49196702..49196703 [GRCh38]
Chr19:49699959..49699960 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2028G>A (p.Leu676=) single nucleotide variant Progressive familial heart block type IB [RCV003831489] Chr19:49190216 [GRCh38]
Chr19:49693473 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1020C>T (p.Pro340=) single nucleotide variant Progressive familial heart block type IB [RCV003610201] Chr19:49171739 [GRCh38]
Chr19:49674996 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.215C>T (p.Thr72Ile) single nucleotide variant Cardiovascular phenotype [RCV004371701]|Progressive familial heart block type IB [RCV003610282] Chr19:49166163 [GRCh38]
Chr19:49669420 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2776A>C (p.Met926Leu) single nucleotide variant Progressive familial heart block type IB [RCV003609572] Chr19:49200430 [GRCh38]
Chr19:49703687 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2888T>C (p.Leu963Pro) single nucleotide variant Progressive familial heart block type IB [RCV003608845] Chr19:49200720 [GRCh38]
Chr19:49703977 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1876C>A (p.Leu626Ile) single nucleotide variant Progressive familial heart block type IB [RCV003609462] Chr19:49188948 [GRCh38]
Chr19:49692205 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3534+7C>G single nucleotide variant Progressive familial heart block type IB [RCV003609885] Chr19:49211094 [GRCh38]
Chr19:49714351 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1609-10T>C single nucleotide variant Progressive familial heart block type IB [RCV003609754] Chr19:49183068 [GRCh38]
Chr19:49686325 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2953+6G>C single nucleotide variant Progressive familial heart block type IB [RCV003609831] Chr19:49200791 [GRCh38]
Chr19:49704048 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3132-15C>T single nucleotide variant Progressive familial heart block type IB [RCV003610066] Chr19:49210194 [GRCh38]
Chr19:49713451 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3094A>G (p.Asn1032Asp) single nucleotide variant Progressive familial heart block type IB [RCV003610162] Chr19:49202104 [GRCh38]
Chr19:49705361 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2646-11C>A single nucleotide variant Progressive familial heart block type IB [RCV003609806] Chr19:49200289 [GRCh38]
Chr19:49703546 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.189C>T (p.Ser63=) single nucleotide variant Progressive familial heart block type IB [RCV003609987] Chr19:49166137 [GRCh38]
Chr19:49669394 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2133-5G>T single nucleotide variant Progressive familial heart block type IB [RCV003879428] Chr19:49190691 [GRCh38]
Chr19:49693948 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2567T>C (p.Leu856Pro) single nucleotide variant Progressive familial heart block type IB [RCV003609313] Chr19:49196796 [GRCh38]
Chr19:49700053 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2420del (p.Pro807fs) deletion Progressive familial heart block type IB [RCV003609833] Chr19:49196648 [GRCh38]
Chr19:49699905 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.918_919del (p.Ala307fs) deletion Progressive familial heart block type IB [RCV003610012] Chr19:49171636..49171637 [GRCh38]
Chr19:49674893..49674894 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.448+15G>A single nucleotide variant Progressive familial heart block type IB [RCV003609043] Chr19:49168112 [GRCh38]
Chr19:49671369 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.126C>T (p.Thr42=) single nucleotide variant Progressive familial heart block type IB [RCV003830752] Chr19:49166074 [GRCh38]
Chr19:49669331 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2211-19C>G single nucleotide variant Progressive familial heart block type IB [RCV003609330] Chr19:49196421 [GRCh38]
Chr19:49699678 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.93-7C>T single nucleotide variant Progressive familial heart block type IB [RCV003609432] Chr19:49166034 [GRCh38]
Chr19:49669291 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3328+17G>T single nucleotide variant Progressive familial heart block type IB [RCV003610024] Chr19:49210422 [GRCh38]
Chr19:49713679 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1608+25dup duplication Progressive familial heart block type IB [RCV003609884] Chr19:49182941..49182942 [GRCh38]
Chr19:49686198..49686199 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.268-3C>T single nucleotide variant Progressive familial heart block type IB [RCV003610033] Chr19:49167914 [GRCh38]
Chr19:49671171 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2478C>G (p.Cys826Trp) single nucleotide variant Progressive familial heart block type IB [RCV003610039] Chr19:49196707 [GRCh38]
Chr19:49699964 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.211C>T (p.Pro71Ser) single nucleotide variant Progressive familial heart block type IB [RCV003610156] Chr19:49166159 [GRCh38]
Chr19:49669416 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.908G>T (p.Gly303Val) single nucleotide variant Progressive familial heart block type IB [RCV003610296] Chr19:49171627 [GRCh38]
Chr19:49674884 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2244G>T (p.Gly748=) single nucleotide variant Progressive familial heart block type IB [RCV003610047] Chr19:49196473 [GRCh38]
Chr19:49699730 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2210+16A>T single nucleotide variant Progressive familial heart block type IB [RCV003609908] Chr19:49190789 [GRCh38]
Chr19:49694046 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2886C>T (p.Ile962=) single nucleotide variant Progressive familial heart block type IB [RCV003609312] Chr19:49200718 [GRCh38]
Chr19:49703975 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1150+15C>T single nucleotide variant Progressive familial heart block type IB [RCV003609360] Chr19:49172123 [GRCh38]
Chr19:49675380 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.25-13T>C single nucleotide variant Progressive familial heart block type IB [RCV003609930] Chr19:49158179 [GRCh38]
Chr19:49661436 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.268T>G (p.Phe90Val) single nucleotide variant Progressive familial heart block type IB [RCV003609933]|not provided [RCV004763762] Chr19:49167917 [GRCh38]
Chr19:49671174 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2376G>T (p.Leu792=) single nucleotide variant Cardiovascular phenotype [RCV004374300]|Progressive familial heart block type IB [RCV003609839] Chr19:49196605 [GRCh38]
Chr19:49699862 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1265C>T (p.Ser422Phe) single nucleotide variant Progressive familial heart block type IB [RCV003608727] Chr19:49182579 [GRCh38]
Chr19:49685836 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2058C>A (p.Ser686Arg) single nucleotide variant Cardiovascular phenotype [RCV004366810]|Progressive familial heart block type IB [RCV003829432] Chr19:49190246 [GRCh38]
Chr19:49693503 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.117C>G (p.Arg39=) single nucleotide variant Progressive familial heart block type IB [RCV003880422] Chr19:49166065 [GRCh38]
Chr19:49669322 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2801T>C (p.Leu934Pro) single nucleotide variant Progressive familial heart block type IB [RCV003608925] Chr19:49200633 [GRCh38]
Chr19:49703890 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.274C>T (p.Arg92Trp) single nucleotide variant Progressive familial heart block type IB [RCV003608931] Chr19:49167923 [GRCh38]
Chr19:49671180 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.14A>C (p.Glu5Ala) single nucleotide variant Progressive familial heart block type IB [RCV003608932] Chr19:49157880 [GRCh38]
Chr19:49661137 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1568G>A (p.Gly523Asp) single nucleotide variant Progressive familial heart block type IB [RCV003609130] Chr19:49182882 [GRCh38]
Chr19:49686139 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2727C>G (p.Ile909Met) single nucleotide variant Progressive familial heart block type IB [RCV003608964] Chr19:49200381 [GRCh38]
Chr19:49703638 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2524A>C (p.Ser842Arg) single nucleotide variant Progressive familial heart block type IB [RCV003608986] Chr19:49196753 [GRCh38]
Chr19:49700010 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3392A>C (p.Asn1131Thr) single nucleotide variant Progressive familial heart block type IB [RCV003609017] Chr19:49210773 [GRCh38]
Chr19:49714030 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2238G>T (p.Pro746=) single nucleotide variant Progressive familial heart block type IB [RCV003609449] Chr19:49196467 [GRCh38]
Chr19:49699724 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.642C>G (p.Arg214=) single nucleotide variant Progressive familial heart block type IB [RCV003609451] Chr19:49168582 [GRCh38]
Chr19:49671839 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1910G>A (p.Arg637Lys) single nucleotide variant Progressive familial heart block type IB [RCV003831134] Chr19:49188982 [GRCh38]
Chr19:49692239 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.797-13C>A single nucleotide variant Progressive familial heart block type IB [RCV003609730] Chr19:49171344 [GRCh38]
Chr19:49674601 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3641-2A>G single nucleotide variant Progressive familial heart block type IB [RCV003877862] Chr19:49211492 [GRCh38]
Chr19:49714749 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1474A>G (p.Lys492Glu) single nucleotide variant Progressive familial heart block type IB [RCV003608786] Chr19:49182788 [GRCh38]
Chr19:49686045 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.296C>T (p.Pro99Leu) single nucleotide variant Progressive familial heart block type IB [RCV003609542] Chr19:49167945 [GRCh38]
Chr19:49671202 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2010T>C (p.Asp670=) single nucleotide variant Progressive familial heart block type IB [RCV003608942] Chr19:49189082 [GRCh38]
Chr19:49692339 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2486T>C (p.Leu829Pro) single nucleotide variant Progressive familial heart block type IB [RCV003609324] Chr19:49196715 [GRCh38]
Chr19:49699972 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1106G>A (p.Gly369Glu) single nucleotide variant Progressive familial heart block type IB [RCV003876870] Chr19:49172064 [GRCh38]
Chr19:49675321 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1050+7C>A single nucleotide variant Progressive familial heart block type IB [RCV003609359] Chr19:49171776 [GRCh38]
Chr19:49675033 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.866A>G (p.Glu289Gly) single nucleotide variant Progressive familial heart block type IB [RCV003609604] Chr19:49171585 [GRCh38]
Chr19:49674842 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.997G>T (p.Asp333Tyr) single nucleotide variant Progressive familial heart block type IB [RCV003831293]|not provided [RCV004775515] Chr19:49171716 [GRCh38]
Chr19:49674973 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.136G>A (p.Ala46Thr) single nucleotide variant Progressive familial heart block type IB [RCV003609384] Chr19:49166084 [GRCh38]
Chr19:49669341 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.85G>C (p.Asp29His) single nucleotide variant Progressive familial heart block type IB [RCV003609423] Chr19:49158252 [GRCh38]
Chr19:49661509 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2926G>A (p.Gly976Arg) single nucleotide variant Progressive familial heart block type IB [RCV003609669]|not provided [RCV004723452] Chr19:49200758 [GRCh38]
Chr19:49704015 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1257A>G (p.Gln419=) single nucleotide variant Progressive familial heart block type IB [RCV003881292] Chr19:49181455 [GRCh38]
Chr19:49684712 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.914G>A (p.Gly305Glu) single nucleotide variant Progressive familial heart block type IB [RCV003824475] Chr19:49171633 [GRCh38]
Chr19:49674890 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3329-18C>G single nucleotide variant Progressive familial heart block type IB [RCV003610401] Chr19:49210692 [GRCh38]
Chr19:49713949 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2020-10C>T single nucleotide variant Progressive familial heart block type IB [RCV003610457] Chr19:49190198 [GRCh38]
Chr19:49693455 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1758T>G (p.Val586=) single nucleotide variant Progressive familial heart block type IB [RCV003610409] Chr19:49188655 [GRCh38]
Chr19:49691912 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2119C>T (p.Leu707Phe) single nucleotide variant Progressive familial heart block type IB [RCV003833225] Chr19:49190307 [GRCh38]
Chr19:49693564 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1264-3C>T single nucleotide variant Progressive familial heart block type IB [RCV003610538] Chr19:49182575 [GRCh38]
Chr19:49685832 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1051-18G>A single nucleotide variant Progressive familial heart block type IB [RCV003610542] Chr19:49171991 [GRCh38]
Chr19:49675248 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2279G>C (p.Gly760Ala) single nucleotide variant Progressive familial heart block type IB [RCV003610629] Chr19:49196508 [GRCh38]
Chr19:49699765 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.897C>G (p.Leu299=) single nucleotide variant Progressive familial heart block type IB [RCV003610595] Chr19:49171616 [GRCh38]
Chr19:49674873 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2653C>T (p.Pro885Ser) single nucleotide variant Progressive familial heart block type IB [RCV003610619] Chr19:49200307 [GRCh38]
Chr19:49703564 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1766C>T (p.Ala589Val) single nucleotide variant Progressive familial heart block type IB [RCV003610728] Chr19:49188663 [GRCh38]
Chr19:49691920 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.480G>C (p.Thr160=) single nucleotide variant Progressive familial heart block type IB [RCV003610720] Chr19:49168291 [GRCh38]
Chr19:49671548 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.928T>A (p.Cys310Ser) single nucleotide variant Progressive familial heart block type IB [RCV003610735] Chr19:49171647 [GRCh38]
Chr19:49674904 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.797-4T>A single nucleotide variant Cardiovascular phenotype [RCV004373999]|Progressive familial heart block type IB [RCV003610771] Chr19:49171353 [GRCh38]
Chr19:49674610 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3363G>C (p.Leu1121=) single nucleotide variant Progressive familial heart block type IB [RCV003850806] Chr19:49210744 [GRCh38]
Chr19:49714001 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.576T>C (p.Gly192=) single nucleotide variant Progressive familial heart block type IB [RCV003610757] Chr19:49168387 [GRCh38]
Chr19:49671644 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1151C>T (p.Ala384Val) single nucleotide variant Progressive familial heart block type IB [RCV003610809] Chr19:49181349 [GRCh38]
Chr19:49684606 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2850_2863delinsACACGCCCGTGGGACAGT (p.Leu951fs) indel Progressive familial heart block type IB [RCV003610651] Chr19:49200682..49200695 [GRCh38]
Chr19:49703939..49703952 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3008C>T (p.Pro1003Leu) single nucleotide variant Cardiovascular phenotype [RCV004676262]|Progressive familial heart block type IB [RCV003610848] Chr19:49202018 [GRCh38]
Chr19:49705275 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.198C>T (p.His66=) single nucleotide variant Progressive familial heart block type IB [RCV003610876] Chr19:49166146 [GRCh38]
Chr19:49669403 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3329-16C>T single nucleotide variant Progressive familial heart block type IB [RCV003610383] Chr19:49210694 [GRCh38]
Chr19:49713951 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.500G>T (p.Gly167Val) single nucleotide variant Progressive familial heart block type IB [RCV003502113] Chr19:49168311 [GRCh38]
Chr19:49671568 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3534+16C>T single nucleotide variant Progressive familial heart block type IB [RCV003610541] Chr19:49211103 [GRCh38]
Chr19:49714360 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1150+13C>A single nucleotide variant Progressive familial heart block type IB [RCV003610549] Chr19:49172121 [GRCh38]
Chr19:49675378 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3362T>G (p.Leu1121Arg) single nucleotide variant Progressive familial heart block type IB [RCV003833167] Chr19:49210743 [GRCh38]
Chr19:49714000 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3058G>A (p.Val1020Met) single nucleotide variant Progressive familial heart block type IB [RCV003610701] Chr19:49202068 [GRCh38]
Chr19:49705325 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3461+8C>G single nucleotide variant Progressive familial heart block type IB [RCV003832253] Chr19:49210850 [GRCh38]
Chr19:49714107 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2427G>T (p.Pro809=) single nucleotide variant Progressive familial heart block type IB [RCV003610736] Chr19:49196656 [GRCh38]
Chr19:49699913 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.970G>C (p.Gly324Arg) single nucleotide variant Progressive familial heart block type IB [RCV003610776] Chr19:49171689 [GRCh38]
Chr19:49674946 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1495_1506del (p.Arg499_Asp502del) deletion Erythrokeratodermia variabilis et progressiva 6 [RCV004771548]|Progressive familial heart block type IB [RCV003839996] Chr19:49182808..49182819 [GRCh38]
Chr19:49686065..49686076 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.125C>T (p.Thr42Ile) single nucleotide variant Progressive familial heart block type IB [RCV003610533] Chr19:49166073 [GRCh38]
Chr19:49669330 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3329-10G>T single nucleotide variant Progressive familial heart block type IB [RCV003502184] Chr19:49210700 [GRCh38]
Chr19:49713957 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1919G>T (p.Arg640Leu) single nucleotide variant Progressive familial heart block type IB [RCV003502194] Chr19:49188991 [GRCh38]
Chr19:49692248 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.119C>T (p.Pro40Leu) single nucleotide variant Progressive familial heart block type IB [RCV003817474] Chr19:49166067 [GRCh38]
Chr19:49669324 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.96G>A (p.Gly32=) single nucleotide variant Progressive familial heart block type IB [RCV003610877] Chr19:49166044 [GRCh38]
Chr19:49669301 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1496G>C (p.Arg499Pro) single nucleotide variant Progressive familial heart block type IB [RCV003502039] Chr19:49182810 [GRCh38]
Chr19:49686067 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3541C>T (p.Gln1181Ter) single nucleotide variant Progressive familial heart block type IB [RCV003610378] Chr19:49211170 [GRCh38]
Chr19:49714427 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3339T>G (p.Leu1113=) single nucleotide variant Progressive familial heart block type IB [RCV003833928] Chr19:49210720 [GRCh38]
Chr19:49713977 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2132+17G>A single nucleotide variant Progressive familial heart block type IB [RCV003502077] Chr19:49190337 [GRCh38]
Chr19:49693594 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1325G>T (p.Arg442Leu) single nucleotide variant Progressive familial heart block type IB [RCV003502296] Chr19:49182639 [GRCh38]
Chr19:49685896 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2816T>A (p.Val939Glu) single nucleotide variant Progressive familial heart block type IB [RCV003610517] Chr19:49200648 [GRCh38]
Chr19:49703905 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2325C>T (p.Phe775=) single nucleotide variant Progressive familial heart block type IB [RCV003832139] Chr19:49196554 [GRCh38]
Chr19:49699811 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1551_1561del (p.Tyr519fs) deletion Progressive familial heart block type IB [RCV003502054] Chr19:49182865..49182875 [GRCh38]
Chr19:49686122..49686132 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.89C>T (p.Pro30Leu) single nucleotide variant Progressive familial heart block type IB [RCV003816074] Chr19:49158256 [GRCh38]
Chr19:49661513 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2210+13T>C single nucleotide variant Progressive familial heart block type IB [RCV003610264] Chr19:49190786 [GRCh38]
Chr19:49694043 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.613-8T>A single nucleotide variant Progressive familial heart block type IB [RCV003610406] Chr19:49168545 [GRCh38]
Chr19:49671802 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3462-2A>C single nucleotide variant Progressive familial heart block type IB [RCV003502175] Chr19:49211013 [GRCh38]
Chr19:49714270 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2360T>C (p.Val787Ala) single nucleotide variant Progressive familial heart block type IB [RCV003610458] Chr19:49196589 [GRCh38]
Chr19:49699846 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.93-10G>A single nucleotide variant Progressive familial heart block type IB [RCV003502220] Chr19:49166031 [GRCh38]
Chr19:49669288 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2208C>G (p.Val736=) single nucleotide variant Progressive familial heart block type IB [RCV003834654] Chr19:49190771 [GRCh38]
Chr19:49694028 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3547A>G (p.Ser1183Gly) single nucleotide variant Progressive familial heart block type IB [RCV003502267] Chr19:49211176 [GRCh38]
Chr19:49714433 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3006C>A (p.His1002Gln) single nucleotide variant Progressive familial heart block type IB [RCV003846360] Chr19:49202016 [GRCh38]
Chr19:49705273 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1695G>A (p.Trp565Ter) single nucleotide variant Progressive familial heart block type IB [RCV003857171] Chr19:49183164 [GRCh38]
Chr19:49686421 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3641-3C>T single nucleotide variant Progressive familial heart block type IB [RCV003841570] Chr19:49211491 [GRCh38]
Chr19:49714748 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2772C>T (p.Ser924=) single nucleotide variant Progressive familial heart block type IB [RCV003859755] Chr19:49200426 [GRCh38]
Chr19:49703683 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.12G>T (p.Pro4=) single nucleotide variant Progressive familial heart block type IB [RCV003841076] Chr19:49157878 [GRCh38]
Chr19:49661135 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.493C>G (p.His165Asp) single nucleotide variant Progressive familial heart block type IB [RCV003860129] Chr19:49168304 [GRCh38]
Chr19:49671561 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2694C>T (p.Asp898=) single nucleotide variant Progressive familial heart block type IB [RCV003871773] Chr19:49200348 [GRCh38]
Chr19:49703605 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NM_017636.4(TRPM4):c.3198C>A (p.Ile1066=) single nucleotide variant Progressive familial heart block type IB [RCV003841517] Chr19:49210275 [GRCh38]
Chr19:49713532 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1874-6C>T single nucleotide variant Progressive familial heart block type IB [RCV003819317] Chr19:49188940 [GRCh38]
Chr19:49692197 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3502_3510del (p.Tyr1168_Gln1170del) deletion Progressive familial heart block type IB [RCV003869626] Chr19:49211053..49211061 [GRCh38]
Chr19:49714310..49714318 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.726C>T (p.Cys242=) single nucleotide variant Progressive familial heart block type IB [RCV003868242] Chr19:49168666 [GRCh38]
Chr19:49671923 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1151-10A>G single nucleotide variant Progressive familial heart block type IB [RCV003840788] Chr19:49181339 [GRCh38]
Chr19:49684596 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2954-15T>A single nucleotide variant Progressive familial heart block type IB [RCV003864622] Chr19:49201949 [GRCh38]
Chr19:49705206 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.2645+7G>T single nucleotide variant Progressive familial heart block type IB [RCV003841078] Chr19:49196881 [GRCh38]
Chr19:49700138 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.115C>T (p.Arg39Cys) single nucleotide variant Progressive familial heart block type IB [RCV003854091] Chr19:49166063 [GRCh38]
Chr19:49669320 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2020-9C>T single nucleotide variant Progressive familial heart block type IB [RCV005103190]|not specified [RCV003995182] Chr19:49190199 [GRCh38]
Chr19:49693456 [GRCh37]
Chr19:19q13.33		 likely benign
Single allele deletion PPFIA3-related disorder [RCV003991563] Chr19:49143485..49159174 [GRCh38]
Chr19:19q13.33		 likely pathogenic
NM_017636.4(TRPM4):c.2779-10C>A single nucleotide variant TRPM4-related disorder [RCV004544100] Chr19:49200601 [GRCh38]
Chr19:49703858 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3132-20T>C single nucleotide variant not specified [RCV003988539] Chr19:49210189 [GRCh38]
Chr19:49713446 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2542G>A (p.Gly848Ser) single nucleotide variant TRPM4-related disorder [RCV004536960] Chr19:49196771 [GRCh38]
Chr19:49700028 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2953+7G>A single nucleotide variant TRPM4-related disorder [RCV004544139] Chr19:49200792 [GRCh38]
Chr19:49704049 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1599C>T (p.Phe533=) single nucleotide variant Cardiovascular phenotype [RCV004522166]|Progressive familial heart block type IB [RCV005100594] Chr19:49182913 [GRCh38]
Chr19:49686170 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1630G>A (p.Ala544Thr) single nucleotide variant Cardiovascular phenotype [RCV004522167] Chr19:49183099 [GRCh38]
Chr19:49686356 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1699C>T (p.Leu567=) single nucleotide variant Cardiovascular phenotype [RCV004522170] Chr19:49183168 [GRCh38]
Chr19:49686425 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1806G>A (p.Leu602=) single nucleotide variant Cardiovascular phenotype [RCV004522171] Chr19:49188703 [GRCh38]
Chr19:49691960 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1998C>T (p.Phe666=) single nucleotide variant Cardiovascular phenotype [RCV004522172] Chr19:49189070 [GRCh38]
Chr19:49692327 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2198A>G (p.Glu733Gly) single nucleotide variant Cardiovascular phenotype [RCV004522173] Chr19:49190761 [GRCh38]
Chr19:49694018 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2382G>C (p.Leu794=) single nucleotide variant Cardiovascular phenotype [RCV004522177] Chr19:49196611 [GRCh38]
Chr19:49699868 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2406C>T (p.Leu802=) single nucleotide variant Cardiovascular phenotype [RCV004522178] Chr19:49196635 [GRCh38]
Chr19:49699892 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.25A>G (p.Ser9Gly) single nucleotide variant Cardiovascular phenotype [RCV004522183] Chr19:49158192 [GRCh38]
Chr19:49661449 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2633G>C (p.Gly878Ala) single nucleotide variant Cardiovascular phenotype [RCV004522184] Chr19:49196862 [GRCh38]
Chr19:49700119 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2685C>T (p.Leu895=) single nucleotide variant Cardiovascular phenotype [RCV004522185] Chr19:49200339 [GRCh38]
Chr19:49703596 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.485T>C (p.Ile162Thr) single nucleotide variant Cardiovascular phenotype [RCV004522197] Chr19:49168296 [GRCh38]
Chr19:49671553 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.970G>A (p.Gly324Arg) single nucleotide variant Cardiovascular phenotype [RCV004522204] Chr19:49171689 [GRCh38]
Chr19:49674946 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3219C>T (p.Pro1073=) single nucleotide variant TRPM4-related disorder [RCV004542526] Chr19:49210296 [GRCh38]
Chr19:49713553 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1149G>A (p.Lys383=) single nucleotide variant Cardiovascular phenotype [RCV004522163] Chr19:49172107 [GRCh38]
Chr19:49675364 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.155C>G (p.Ala52Gly) single nucleotide variant Cardiovascular phenotype [RCV004522165]|Progressive familial heart block type IB [RCV005059469] Chr19:49166103 [GRCh38]
Chr19:49669360 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1641G>C (p.Pro547=) single nucleotide variant Cardiovascular phenotype [RCV004522168]|Progressive familial heart block type IB [RCV005100595] Chr19:49183110 [GRCh38]
Chr19:49686367 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1670C>T (p.Ala557Val) single nucleotide variant Cardiovascular phenotype [RCV004522169] Chr19:49183139 [GRCh38]
Chr19:49686396 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2259G>A (p.Ser753=) single nucleotide variant Cardiovascular phenotype [RCV004522175] Chr19:49196488 [GRCh38]
Chr19:49699745 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2469G>T (p.Thr823=) single nucleotide variant Cardiovascular phenotype [RCV004522179] Chr19:49196698 [GRCh38]
Chr19:49699955 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2548G>C (p.Ala850Pro) single nucleotide variant Cardiovascular phenotype [RCV004522182] Chr19:49196777 [GRCh38]
Chr19:49700034 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2975A>G (p.Asn992Ser) single nucleotide variant Cardiovascular phenotype [RCV004522186] Chr19:49201985 [GRCh38]
Chr19:49705242 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3212C>G (p.Ser1071Cys) single nucleotide variant Cardiovascular phenotype [RCV004522188] Chr19:49210289 [GRCh38]
Chr19:49713546 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3246C>G (p.Ile1082Met) single nucleotide variant Cardiovascular phenotype [RCV004522189]|Progressive familial heart block type IB [RCV005100597] Chr19:49210323 [GRCh38]
Chr19:49713580 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3461+1G>A single nucleotide variant Cardiovascular phenotype [RCV004522190] Chr19:49210843 [GRCh38]
Chr19:49714100 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3547A>T (p.Ser1183Cys) single nucleotide variant Cardiovascular phenotype [RCV004522192] Chr19:49211176 [GRCh38]
Chr19:49714433 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3571G>A (p.Glu1191Lys) single nucleotide variant Cardiovascular phenotype [RCV004522193] Chr19:49211200 [GRCh38]
Chr19:49714457 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.49A>G (p.Lys17Glu) single nucleotide variant Cardiovascular phenotype [RCV004522198]|Progressive familial heart block type IB [RCV005100598] Chr19:49158216 [GRCh38]
Chr19:49661473 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.581T>C (p.Val194Ala) single nucleotide variant Cardiovascular phenotype [RCV004522199] Chr19:49168392 [GRCh38]
Chr19:49671649 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.92+3G>A single nucleotide variant Cardiovascular phenotype [RCV004522202] Chr19:49158262 [GRCh38]
Chr19:49661519 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1081C>T (p.Leu361=) single nucleotide variant Cardiovascular phenotype [RCV004522162] Chr19:49172039 [GRCh38]
Chr19:49675296 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2221C>G (p.Pro741Ala) single nucleotide variant Cardiovascular phenotype [RCV004522174] Chr19:49196450 [GRCh38]
Chr19:49699707 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2982_2984delinsATT (p.Ser995Leu) indel Cardiovascular phenotype [RCV004522187] Chr19:49201992..49201994 [GRCh38]
Chr19:49705249..49705251 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3465G>C (p.Val1155=) single nucleotide variant Cardiovascular phenotype [RCV004522191] Chr19:49211018 [GRCh38]
Chr19:49714275 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.982C>G (p.Gln328Glu) single nucleotide variant Cardiovascular phenotype [RCV004522205] Chr19:49171701 [GRCh38]
Chr19:49674958 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1151-5T>C single nucleotide variant Cardiovascular phenotype [RCV004522164] Chr19:49181344 [GRCh38]
Chr19:49684601 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.443G>A (p.Ser148Asn) single nucleotide variant Cardiovascular phenotype [RCV004522195] Chr19:49168092 [GRCh38]
Chr19:49671349 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.480G>T (p.Thr160=) single nucleotide variant Cardiovascular phenotype [RCV004522196] Chr19:49168291 [GRCh38]
Chr19:49671548 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.600C>T (p.Leu200=) single nucleotide variant Cardiovascular phenotype [RCV004522200] Chr19:49168411 [GRCh38]
Chr19:49671668 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.613-2A>G single nucleotide variant Cardiovascular phenotype [RCV004522201] Chr19:49168551 [GRCh38]
Chr19:49671808 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.920C>G (p.Ala307Gly) single nucleotide variant Cardiovascular phenotype [RCV004522203] Chr19:49171639 [GRCh38]
Chr19:49674896 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2328G>C (p.Trp776Cys) single nucleotide variant Cardiovascular phenotype [RCV004522176] Chr19:49196557 [GRCh38]
Chr19:49699814 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2494G>A (p.Gly832Ser) single nucleotide variant Cardiovascular phenotype [RCV004522180]|Progressive familial heart block type IB [RCV005100596] Chr19:49196723 [GRCh38]
Chr19:49699980 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2514C>A (p.Gly838=) single nucleotide variant Cardiovascular phenotype [RCV004522181] Chr19:49196743 [GRCh38]
Chr19:49700000 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.371del (p.Gly124fs) deletion Cardiovascular phenotype [RCV004522194] Chr19:49168015 [GRCh38]
Chr19:49671272 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1333A>G (p.Ile445Val) single nucleotide variant Cardiovascular phenotype [RCV004468721] Chr19:49182647 [GRCh38]
Chr19:49685904 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.318C>A (p.Val106=) single nucleotide variant Cardiovascular phenotype [RCV004468727] Chr19:49167967 [GRCh38]
Chr19:49671224 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.480G>A (p.Thr160=) single nucleotide variant Cardiovascular phenotype [RCV004018512]|Progressive familial heart block type IB [RCV005103371] Chr19:49168291 [GRCh38]
Chr19:49671548 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_017636.4(TRPM4):c.3556C>G (p.Leu1186Val) single nucleotide variant Cardiovascular phenotype [RCV004468729] Chr19:49211185 [GRCh38]
Chr19:49714442 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1421G>T (p.Arg474Leu) single nucleotide variant Progressive familial heart block type IB [RCV004577655] Chr19:49182735 [GRCh38]
Chr19:49685992 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1341C>A (p.His447Gln) single nucleotide variant Cardiovascular phenotype [RCV004468722] Chr19:49182655 [GRCh38]
Chr19:49685912 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.190G>A (p.Asp64Asn) single nucleotide variant Cardiovascular phenotype [RCV004468724] Chr19:49166138 [GRCh38]
Chr19:49669395 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.247G>T (p.Ala83Ser) single nucleotide variant Cardiovascular phenotype [RCV004468726]|Progressive familial heart block type IB [RCV005104760] Chr19:49166195 [GRCh38]
Chr19:49669452 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49684586)_(49714755_?)del deletion Progressive familial heart block type IB [RCV004581093] Chr19:49684586..49714755 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49699677)_(49705418_?)del deletion Progressive familial heart block type IB [RCV004581094] Chr19:49699677..49705418 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49661124)_(49675385_?)dup duplication Progressive familial heart block type IB [RCV004581096] Chr19:49661124..49675385 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.9:g.(?_49713446)_(50413064_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV004581120] Chr19:49713446..50413064 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3263T>A (p.Leu1088Gln) single nucleotide variant Cardiovascular phenotype [RCV004680107] Chr19:49210340 [GRCh38]
Chr19:49713597 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2517C>G (p.Ser839Arg) single nucleotide variant Cardiovascular phenotype [RCV004680108] Chr19:49196746 [GRCh38]
Chr19:49700003 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3217C>T (p.Pro1073Ser) single nucleotide variant Cardiovascular phenotype [RCV004680109] Chr19:49210294 [GRCh38]
Chr19:49713551 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2794TTCTTCCTC[3] (p.Leu937_Gly938insPhePheLeu) microsatellite Cardiovascular phenotype [RCV004680110] Chr19:49200623..49200624 [GRCh38]
Chr19:49703880..49703881 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2281G>C (p.Gly761Arg) single nucleotide variant Cardiovascular phenotype [RCV004680111] Chr19:49196510 [GRCh38]
Chr19:49699767 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3175A>G (p.Lys1059Glu) single nucleotide variant not provided [RCV004698196] Chr19:49210252 [GRCh38]
Chr19:49713509 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3521T>G (p.Val1174Gly) single nucleotide variant Cardiovascular phenotype [RCV004687733] Chr19:49211074 [GRCh38]
Chr19:49714331 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1501C>G (p.Pro501Ala) single nucleotide variant Cardiovascular phenotype [RCV004687734] Chr19:49182815 [GRCh38]
Chr19:49686072 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1100A>G (p.Glu367Gly) single nucleotide variant Cardiovascular phenotype [RCV004680095] Chr19:49172058 [GRCh38]
Chr19:49675315 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2478C>A (p.Cys826Ter) single nucleotide variant Cardiovascular phenotype [RCV004680097]|Progressive familial heart block type IB [RCV005103496] Chr19:49196707 [GRCh38]
Chr19:49699964 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3109A>C (p.Asn1037His) single nucleotide variant Cardiovascular phenotype [RCV004680098] Chr19:49202119 [GRCh38]
Chr19:49705376 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2446C>G (p.Leu816Val) single nucleotide variant Cardiovascular phenotype [RCV004680099] Chr19:49196675 [GRCh38]
Chr19:49699932 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3083T>C (p.Leu1028Pro) single nucleotide variant Cardiovascular phenotype [RCV004680101] Chr19:49202093 [GRCh38]
Chr19:49705350 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.337C>A (p.Arg113Ser) single nucleotide variant Cardiovascular phenotype [RCV004680102] Chr19:49167986 [GRCh38]
Chr19:49671243 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1902T>G (p.Ser634Arg) single nucleotide variant Cardiovascular phenotype [RCV004680112]|Progressive familial heart block type IB [RCV005103497] Chr19:49188974 [GRCh38]
Chr19:49692231 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1402C>T (p.Pro468Ser) single nucleotide variant Cardiovascular phenotype [RCV004680113] Chr19:49182716 [GRCh38]
Chr19:49685973 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.651G>T (p.Pro217=) single nucleotide variant Cardiovascular phenotype [RCV004680114] Chr19:49168591 [GRCh38]
Chr19:49671848 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3637A>G (p.Lys1213Glu) single nucleotide variant Cardiovascular phenotype [RCV004680115] Chr19:49211266 [GRCh38]
Chr19:49714523 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1116A>G (p.Glu372=) single nucleotide variant Cardiovascular phenotype [RCV004680116] Chr19:49172074 [GRCh38]
Chr19:49675331 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1122G>A (p.Glu374=) single nucleotide variant Cardiovascular phenotype [RCV004680117] Chr19:49172080 [GRCh38]
Chr19:49675337 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.304G>C (p.Val102Leu) single nucleotide variant Cardiovascular phenotype [RCV004680118] Chr19:49167953 [GRCh38]
Chr19:49671210 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1885G>T (p.Glu629Ter) single nucleotide variant Cardiovascular phenotype [RCV004680119] Chr19:49188957 [GRCh38]
Chr19:49692214 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2173G>T (p.Asp725Tyr) single nucleotide variant Cardiovascular phenotype [RCV004680120] Chr19:49190736 [GRCh38]
Chr19:49693993 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3246C>T (p.Ile1082=) single nucleotide variant Cardiovascular phenotype [RCV004680121] Chr19:49210323 [GRCh38]
Chr19:49713580 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3302C>T (p.Pro1101Leu) single nucleotide variant Cardiovascular phenotype [RCV004680126] Chr19:49210379 [GRCh38]
Chr19:49713636 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2788G>A (p.Val930Met) single nucleotide variant Cardiovascular phenotype [RCV004680103] Chr19:49200620 [GRCh38]
Chr19:49703877 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3216G>T (p.Arg1072=) single nucleotide variant Cardiovascular phenotype [RCV004680104] Chr19:49210293 [GRCh38]
Chr19:49713550 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1485T>C (p.Ala495=) single nucleotide variant Cardiovascular phenotype [RCV004680105] Chr19:49182799 [GRCh38]
Chr19:49686056 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1229A>G (p.Gln410Arg) single nucleotide variant Cardiovascular phenotype [RCV004680106] Chr19:49181427 [GRCh38]
Chr19:49684684 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2509G>A (p.Gly837Arg) single nucleotide variant Cardiovascular phenotype [RCV004680124] Chr19:49196738 [GRCh38]
Chr19:49699995 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.254G>C (p.Arg85Pro) single nucleotide variant Cardiovascular phenotype [RCV004680125] Chr19:49166202 [GRCh38]
Chr19:49669459 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2526C>A (p.Ser842Arg) single nucleotide variant Cardiovascular phenotype [RCV004680127] Chr19:49196755 [GRCh38]
Chr19:49700012 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3409G>T (p.Ala1137Ser) single nucleotide variant Cardiovascular phenotype [RCV004680128]|Progressive familial heart block type IB [RCV005103498] Chr19:49210790 [GRCh38]
Chr19:49714047 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3295C>G (p.Pro1099Ala) single nucleotide variant Cardiovascular phenotype [RCV004680129]|Progressive familial heart block type IB [RCV005059743] Chr19:49210372 [GRCh38]
Chr19:49713629 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2245del (p.Val749fs) deletion not provided [RCV004698194] Chr19:49196470 [GRCh38]
Chr19:49699727 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1735T>C (p.Trp579Arg) single nucleotide variant not provided [RCV004778926] Chr19:49183204 [GRCh38]
Chr19:49686461 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3212C>T (p.Ser1071Phe) single nucleotide variant not provided [RCV004775146] Chr19:49210289 [GRCh38]
Chr19:49713546 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3110A>G (p.Asn1037Ser) single nucleotide variant not provided [RCV004781040] Chr19:49202120 [GRCh38]
Chr19:49705377 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.749_750delinsTT (p.Arg250Leu) indel TRPM4-related disorder [RCV004726644] Chr19:49168689..49168690 [GRCh38]
Chr19:49671946..49671947 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1249G>A (p.Asp417Asn) single nucleotide variant Progressive familial heart block type IB [RCV005105014]|not provided [RCV004781089] Chr19:49181447 [GRCh38]
Chr19:49684704 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2648T>A (p.Leu883Gln) single nucleotide variant not provided [RCV004766273] Chr19:49200302 [GRCh38]
Chr19:49703559 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.-3A>T single nucleotide variant not provided [RCV004761764] Chr19:49157864 [GRCh38]
Chr19:49661121 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.36del (p.Lys13fs) deletion not provided [RCV004774829] Chr19:49158200 [GRCh38]
Chr19:49661457 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.802G>A (p.Gly268Arg) single nucleotide variant not provided [RCV004775224] Chr19:49171362 [GRCh38]
Chr19:49674619 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2572C>T (p.Leu858Phe) single nucleotide variant not provided [RCV004724014] Chr19:49196801 [GRCh38]
Chr19:49700058 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1129G>A (p.Val377Ile) single nucleotide variant TRPM4-related disorder [RCV004730033] Chr19:49172087 [GRCh38]
Chr19:49675344 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3512G>C (p.Arg1171Pro) single nucleotide variant not provided [RCV004769106] Chr19:49211065 [GRCh38]
Chr19:49714322 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3313G>C (p.Ala1105Pro) single nucleotide variant Cardiovascular phenotype [RCV004991034] Chr19:49210390 [GRCh38]
Chr19:49713647 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.768del (p.Ser255_Tyr256insTer) deletion Cardiovascular phenotype [RCV004991036] Chr19:49168708 [GRCh38]
Chr19:49671965 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2216C>G (p.Ala739Gly) single nucleotide variant Cardiovascular phenotype [RCV004991052] Chr19:49196445 [GRCh38]
Chr19:49699702 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2646-2A>T single nucleotide variant Cardiovascular phenotype [RCV004991053]|Progressive familial heart block type IB [RCV005109952] Chr19:49200298 [GRCh38]
Chr19:49703555 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1297C>G (p.Leu433Val) single nucleotide variant Cardiovascular phenotype [RCV004991056] Chr19:49182611 [GRCh38]
Chr19:49685868 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3023C>A (p.Ala1008Glu) single nucleotide variant Cardiovascular phenotype [RCV004991067]|Progressive familial heart block type IB [RCV005109953] Chr19:49202033 [GRCh38]
Chr19:49705290 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1775C>A (p.Ala592Asp) single nucleotide variant Cardiovascular phenotype [RCV004991035] Chr19:49188672 [GRCh38]
Chr19:49691929 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.709G>A (p.Asp237Asn) single nucleotide variant Cardiovascular phenotype [RCV004991037] Chr19:49168649 [GRCh38]
Chr19:49671906 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1742T>C (p.Met581Thr) single nucleotide variant Cardiovascular phenotype [RCV004991044] Chr19:49183211 [GRCh38]
Chr19:49686468 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1089C>T (p.Val363=) single nucleotide variant Cardiovascular phenotype [RCV004991045] Chr19:49172047 [GRCh38]
Chr19:49675304 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2839G>T (p.Ala947Ser) single nucleotide variant Cardiovascular phenotype [RCV004991040] Chr19:49200671 [GRCh38]
Chr19:49703928 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3497G>A (p.Arg1166His) single nucleotide variant Cardiovascular phenotype [RCV004991057] Chr19:49211050 [GRCh38]
Chr19:49714307 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3583C>T (p.Arg1195Cys) single nucleotide variant Cardiovascular phenotype [RCV004991062] Chr19:49211212 [GRCh38]
Chr19:49714469 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2362G>T (p.Val788Phe) single nucleotide variant Cardiovascular phenotype [RCV004991068] Chr19:49196591 [GRCh38]
Chr19:49699848 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2775G>C (p.Lys925Asn) single nucleotide variant Cardiovascular phenotype [RCV004991069] Chr19:49200429 [GRCh38]
Chr19:49703686 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2864G>A (p.Arg955Gln) single nucleotide variant Cardiovascular phenotype [RCV004991071] Chr19:49200696 [GRCh38]
Chr19:49703953 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1058G>T (p.Arg353Met) single nucleotide variant Cardiovascular phenotype [RCV004991046] Chr19:49172016 [GRCh38]
Chr19:49675273 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3605G>C (p.Gly1202Ala) single nucleotide variant Cardiovascular phenotype [RCV004991047] Chr19:49211234 [GRCh38]
Chr19:49714491 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.777G>T (p.Gln259His) single nucleotide variant Cardiovascular phenotype [RCV004991050] Chr19:49168717 [GRCh38]
Chr19:49671974 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.627G>T (p.Ala209=) single nucleotide variant Cardiovascular phenotype [RCV004991054] Chr19:49168567 [GRCh38]
Chr19:49671824 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.45C>T (p.Phe15=) single nucleotide variant Cardiovascular phenotype [RCV004991055] Chr19:49158212 [GRCh38]
Chr19:49661469 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3254T>C (p.Leu1085Ser) single nucleotide variant Cardiovascular phenotype [RCV004991061] Chr19:49210331 [GRCh38]
Chr19:49713588 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1640C>T (p.Pro547Leu) single nucleotide variant Cardiovascular phenotype [RCV004991065] Chr19:49183109 [GRCh38]
Chr19:49686366 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2056A>G (p.Ser686Gly) single nucleotide variant Cardiovascular phenotype [RCV004991070] Chr19:49190244 [GRCh38]
Chr19:49693501 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1420C>T (p.Arg474Cys) single nucleotide variant Cardiovascular phenotype [RCV004991049] Chr19:49182734 [GRCh38]
Chr19:49685991 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1320C>A (p.Phe440Leu) single nucleotide variant Cardiovascular phenotype [RCV004991051]|Progressive familial heart block type IB [RCV005109951] Chr19:49182634 [GRCh38]
Chr19:49685891 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2721T>C (p.Leu907=) single nucleotide variant Cardiovascular phenotype [RCV004991060] Chr19:49200375 [GRCh38]
Chr19:49703632 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1638G>A (p.Ser546=) single nucleotide variant Cardiovascular phenotype [RCV004991064]|Progressive familial heart block type IB [RCV005061621] Chr19:49183107 [GRCh38]
Chr19:49686364 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2263C>A (p.Arg755Ser) single nucleotide variant Cardiovascular phenotype [RCV004991033]|Progressive familial heart block type IB [RCV005061620] Chr19:49196492 [GRCh38]
Chr19:49699749 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1494C>G (p.Leu498=) single nucleotide variant Cardiovascular phenotype [RCV004991042] Chr19:49182808 [GRCh38]
Chr19:49686065 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.996A>G (p.Arg332=) single nucleotide variant Cardiovascular phenotype [RCV004991043] Chr19:49171715 [GRCh38]
Chr19:49674972 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2350A>T (p.Met784Leu) single nucleotide variant Cardiovascular phenotype [RCV004991048] Chr19:49196579 [GRCh38]
Chr19:49699836 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2458T>C (p.Trp820Arg) single nucleotide variant Cardiovascular phenotype [RCV004991063] Chr19:49196687 [GRCh38]
Chr19:49699944 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2063C>T (p.Thr688Ile) single nucleotide variant Cardiovascular phenotype [RCV004991038] Chr19:49190251 [GRCh38]
Chr19:49693508 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.624T>C (p.Pro208=) single nucleotide variant Cardiovascular phenotype [RCV004991039] Chr19:49168564 [GRCh38]
Chr19:49671821 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2265T>C (p.Arg755=) single nucleotide variant Cardiovascular phenotype [RCV004991041] Chr19:49196494 [GRCh38]
Chr19:49699751 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3480A>G (p.Lys1160=) single nucleotide variant Cardiovascular phenotype [RCV004991058] Chr19:49211033 [GRCh38]
Chr19:49714290 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2511G>A (p.Gly837=) single nucleotide variant Cardiovascular phenotype [RCV004991059] Chr19:49196740 [GRCh38]
Chr19:49699997 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.535G>A (p.Gly179Arg) single nucleotide variant Cardiovascular phenotype [RCV004991066] Chr19:49168346 [GRCh38]
Chr19:49671603 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.785C>A (p.Thr262Lys) single nucleotide variant not provided [RCV005001816] Chr19:49168725 [GRCh38]
Chr19:49671982 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1152C>T (p.Ala384=) single nucleotide variant Progressive familial heart block type IB [RCV005145324] Chr19:49181350 [GRCh38]
Chr19:49684607 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.246G>C (p.Gly82=) single nucleotide variant Progressive familial heart block type IB [RCV005175577] Chr19:49166194 [GRCh38]
Chr19:49669451 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1239C>T (p.Leu413=) single nucleotide variant Progressive familial heart block type IB [RCV005196818] Chr19:49181437 [GRCh38]
Chr19:49684694 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2872_2875del (p.Asp958fs) deletion Progressive familial heart block type IB [RCV005147740] Chr19:49200703..49200706 [GRCh38]
Chr19:49703960..49703963 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3309C>T (p.Ser1103=) single nucleotide variant Progressive familial heart block type IB [RCV005147483] Chr19:49210386 [GRCh38]
Chr19:49713643 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.475C>T (p.His159Tyr) single nucleotide variant Progressive familial heart block type IB [RCV005145669] Chr19:49168286 [GRCh38]
Chr19:49671543 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49661048)_(49675366_49684605)dup duplication not specified [RCV005088277] Chr19:49661048..49675366 [GRCh37]
Chr19:19q13.33		 benign
NM_017636.4(TRPM4):c.612+19G>C single nucleotide variant Progressive familial heart block type IB [RCV005196716] Chr19:49168442 [GRCh38]
Chr19:49671699 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2132+1G>C single nucleotide variant Progressive familial heart block type IB [RCV005196831] Chr19:49190321 [GRCh38]
Chr19:49693578 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2645+3G>T single nucleotide variant Progressive familial heart block type IB [RCV005195965] Chr19:49196877 [GRCh38]
Chr19:49700134 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.24+16G>A single nucleotide variant Progressive familial heart block type IB [RCV005195988] Chr19:49157906 [GRCh38]
Chr19:49661163 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.267+10G>T single nucleotide variant Progressive familial heart block type IB [RCV005173071] Chr19:49166225 [GRCh38]
Chr19:49669482 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3329-8C>T single nucleotide variant Progressive familial heart block type IB [RCV005173180] Chr19:49210702 [GRCh38]
Chr19:49713959 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1263+17T>C single nucleotide variant Progressive familial heart block type IB [RCV005106521] Chr19:49181478 [GRCh38]
Chr19:49684735 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1606_1608+1dup duplication Progressive familial heart block type IB [RCV005062331] Chr19:49182918..49182919 [GRCh38]
Chr19:49686175..49686176 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.916G>C (p.Gly306Arg) single nucleotide variant Progressive familial heart block type IB [RCV005195332] Chr19:49171635 [GRCh38]
Chr19:49674892 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.-4C>A single nucleotide variant not provided [RCV005054655] Chr19:49157863 [GRCh38]
Chr19:49661120 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3526G>A (p.Glu1176Lys) single nucleotide variant Progressive familial heart block type IB [RCV005172944] Chr19:49211079 [GRCh38]
Chr19:49714336 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3534+19G>A single nucleotide variant Progressive familial heart block type IB [RCV005086470] Chr19:49211106 [GRCh38]
Chr19:49714363 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1873+18C>T single nucleotide variant Progressive familial heart block type IB [RCV005085357] Chr19:49188788 [GRCh38]
Chr19:49692045 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3506A>C (p.Glu1169Ala) single nucleotide variant Progressive familial heart block type IB [RCV005064573] Chr19:49211059 [GRCh38]
Chr19:49714316 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.153T>G (p.Asp51Glu) single nucleotide variant Progressive familial heart block type IB [RCV005195953] Chr19:49166101 [GRCh38]
Chr19:49669358 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3131+17C>G single nucleotide variant Progressive familial heart block type IB [RCV005065635] Chr19:49202158 [GRCh38]
Chr19:49705415 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2890C>T (p.Arg964Cys) single nucleotide variant Progressive familial heart block type IB [RCV005229721] Chr19:49200722 [GRCh38]
Chr19:49703979 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3063_3064delinsAT (p.Val1021_Leu1022=) indel Progressive familial heart block type IB [RCV005172385] Chr19:49202073..49202074 [GRCh38]
Chr19:49705330..49705331 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.858+17_858+24del microsatellite Progressive familial heart block type IB [RCV005171262] Chr19:49171427..49171434 [GRCh38]
Chr19:49674684..49674691 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.248C>T (p.Ala83Val) single nucleotide variant not provided [RCV005065198] Chr19:49166196 [GRCh38]
Chr19:49669453 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.855G>A (p.Leu285=) single nucleotide variant Progressive familial heart block type IB [RCV005172873] Chr19:49171415 [GRCh38]
Chr19:49674672 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.228A>G (p.Gly76=) single nucleotide variant Progressive familial heart block type IB [RCV005088963] Chr19:49166176 [GRCh38]
Chr19:49669433 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1873+14G>A single nucleotide variant Progressive familial heart block type IB [RCV005084689] Chr19:49188784 [GRCh38]
Chr19:49692041 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1873+10G>T single nucleotide variant Progressive familial heart block type IB [RCV005085287] Chr19:49188780 [GRCh38]
Chr19:49692037 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3601C>G (p.Pro1201Ala) single nucleotide variant Progressive familial heart block type IB [RCV005172208] Chr19:49211230 [GRCh38]
Chr19:49714487 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.603C>T (p.Ile201=) single nucleotide variant Progressive familial heart block type IB [RCV005173239] Chr19:49168414 [GRCh38]
Chr19:49671671 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.871G>A (p.Ala291Thr) single nucleotide variant Progressive familial heart block type IB [RCV005146502] Chr19:49171590 [GRCh38]
Chr19:49674847 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.755G>C (p.Arg252Pro) single nucleotide variant Progressive familial heart block type IB [RCV005208428] Chr19:49168695 [GRCh38]
Chr19:49671952 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3294C>A (p.Ser1098Arg) single nucleotide variant Progressive familial heart block type IB [RCV005203683] Chr19:49210371 [GRCh38]
Chr19:49713628 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.966G>A (p.Gly322=) single nucleotide variant Progressive familial heart block type IB [RCV005207819] Chr19:49171685 [GRCh38]
Chr19:49674942 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2988G>A (p.Glu996=) single nucleotide variant Progressive familial heart block type IB [RCV005122999] Chr19:49201998 [GRCh38]
Chr19:49705255 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3000G>A (p.Trp1000Ter) single nucleotide variant Progressive familial heart block type IB [RCV005206476] Chr19:49202010 [GRCh38]
Chr19:49705267 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3136A>G (p.Thr1046Ala) single nucleotide variant Progressive familial heart block type IB [RCV005160908] Chr19:49210213 [GRCh38]
Chr19:49713470 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3223C>T (p.Leu1075=) single nucleotide variant Cardiovascular phenotype [RCV005303519]|Progressive familial heart block type IB [RCV005191311] Chr19:49210300 [GRCh38]
Chr19:49713557 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.13G>C (p.Glu5Gln) single nucleotide variant Progressive familial heart block type IB [RCV005177000] Chr19:49157879 [GRCh38]
Chr19:49661136 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.770T>C (p.Ile257Thr) single nucleotide variant Progressive familial heart block type IB [RCV005132753] Chr19:49168710 [GRCh38]
Chr19:49671967 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3641-11T>C single nucleotide variant Progressive familial heart block type IB [RCV005079273] Chr19:49211483 [GRCh38]
Chr19:49714740 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1273C>G (p.Leu425Val) single nucleotide variant Progressive familial heart block type IB [RCV005180920] Chr19:49182587 [GRCh38]
Chr19:49685844 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.952A>T (p.Thr318Ser) single nucleotide variant Progressive familial heart block type IB [RCV005201892] Chr19:49171671 [GRCh38]
Chr19:49674928 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.16_18del (p.Lys6del) deletion Progressive familial heart block type IB [RCV005183529] Chr19:49157880..49157882 [GRCh38]
Chr19:49661137..49661139 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3268A>G (p.Arg1090Gly) single nucleotide variant Progressive familial heart block type IB [RCV005121041] Chr19:49210345 [GRCh38]
Chr19:49713602 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1874-18C>G single nucleotide variant Progressive familial heart block type IB [RCV005137522] Chr19:49188928 [GRCh38]
Chr19:49692185 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2009A>C (p.Asp670Ala) single nucleotide variant Progressive familial heart block type IB [RCV005133183] Chr19:49189081 [GRCh38]
Chr19:49692338 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2133-10C>T single nucleotide variant Progressive familial heart block type IB [RCV005082975] Chr19:49190686 [GRCh38]
Chr19:49693943 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2540C>A (p.Pro847His) single nucleotide variant Progressive familial heart block type IB [RCV005110533] Chr19:49196769 [GRCh38]
Chr19:49700026 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1833G>A (p.Arg611=) single nucleotide variant Progressive familial heart block type IB [RCV005117052] Chr19:49188730 [GRCh38]
Chr19:49691987 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2474T>A (p.Leu825Gln) single nucleotide variant Progressive familial heart block type IB [RCV005140710] Chr19:49196703 [GRCh38]
Chr19:49699960 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1744-14C>G single nucleotide variant Progressive familial heart block type IB [RCV005148891] Chr19:49188627 [GRCh38]
Chr19:49691884 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.92+18G>A single nucleotide variant Progressive familial heart block type IB [RCV005179645] Chr19:49158277 [GRCh38]
Chr19:49661534 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1061T>A (p.Ile354Asn) single nucleotide variant Progressive familial heart block type IB [RCV005201377] Chr19:49172019 [GRCh38]
Chr19:49675276 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.927C>G (p.Asp309Glu) single nucleotide variant Progressive familial heart block type IB [RCV005116088] Chr19:49171646 [GRCh38]
Chr19:49674903 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1521G>C (p.Leu507=) single nucleotide variant Progressive familial heart block type IB [RCV005135253] Chr19:49182835 [GRCh38]
Chr19:49686092 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3117C>T (p.Leu1039=) single nucleotide variant Progressive familial heart block type IB [RCV005203742] Chr19:49202127 [GRCh38]
Chr19:49705384 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1683C>T (p.Asp561=) single nucleotide variant Progressive familial heart block type IB [RCV005161946] Chr19:49183152 [GRCh38]
Chr19:49686409 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3329-1G>A single nucleotide variant Progressive familial heart block type IB [RCV005180819] Chr19:49210709 [GRCh38]
Chr19:49713966 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1538A>G (p.Lys513Arg) single nucleotide variant Progressive familial heart block type IB [RCV005154646] Chr19:49182852 [GRCh38]
Chr19:49686109 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.92+1G>A single nucleotide variant Progressive familial heart block type IB [RCV005182397] Chr19:49158260 [GRCh38]
Chr19:49661517 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.349C>T (p.Leu117=) single nucleotide variant Progressive familial heart block type IB [RCV005133789] Chr19:49167998 [GRCh38]
Chr19:49671255 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1440G>A (p.Ala480=) single nucleotide variant Progressive familial heart block type IB [RCV005160725] Chr19:49182754 [GRCh38]
Chr19:49686011 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2655G>A (p.Pro885=) single nucleotide variant Progressive familial heart block type IB [RCV005150481] Chr19:49200309 [GRCh38]
Chr19:49703566 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1608+1G>A single nucleotide variant Progressive familial heart block type IB [RCV005073457] Chr19:49182923 [GRCh38]
Chr19:49686180 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1831C>T (p.Arg611Trp) single nucleotide variant Cardiovascular phenotype [RCV005303479]|Progressive familial heart block type IB [RCV005074777] Chr19:49188728 [GRCh38]
Chr19:49691985 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.858+6G>C single nucleotide variant Progressive familial heart block type IB [RCV005155774] Chr19:49171424 [GRCh38]
Chr19:49674681 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1441T>G (p.Ser481Ala) single nucleotide variant Cardiovascular phenotype [RCV005303520]|Progressive familial heart block type IB [RCV005186751] Chr19:49182755 [GRCh38]
Chr19:49686012 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1323G>A (p.Val441=) single nucleotide variant Progressive familial heart block type IB [RCV005122786] Chr19:49182637 [GRCh38]
Chr19:49685894 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.268-11T>C single nucleotide variant Progressive familial heart block type IB [RCV005166008] Chr19:49167906 [GRCh38]
Chr19:49671163 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.273C>T (p.Leu91=) single nucleotide variant Exertional Heat Illness [RCV005230658] Chr19:49167922 [GRCh38]
Chr19:49671179 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_017636.4(TRPM4):c.3566T>A (p.Val1189Glu) single nucleotide variant Progressive familial heart block type IB [RCV005202271] Chr19:49211195 [GRCh38]
Chr19:49714452 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2934_2935delinsCA (p.Pro979Thr) indel Progressive familial heart block type IB [RCV005136247] Chr19:49200766..49200767 [GRCh38]
Chr19:49704023..49704024 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2848G>A (p.Gly950Arg) single nucleotide variant Progressive familial heart block type IB [RCV005113062] Chr19:49200680 [GRCh38]
Chr19:49703937 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.741C>T (p.Asn247=) single nucleotide variant Progressive familial heart block type IB [RCV005155773] Chr19:49168681 [GRCh38]
Chr19:49671938 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1680C>T (p.Ser560=) single nucleotide variant Progressive familial heart block type IB [RCV005139417] Chr19:49183149 [GRCh38]
Chr19:49686406 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.781A>G (p.Lys261Glu) single nucleotide variant Progressive familial heart block type IB [RCV005139420] Chr19:49168721 [GRCh38]
Chr19:49671978 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2371C>G (p.Leu791Val) single nucleotide variant Progressive familial heart block type IB [RCV005111076] Chr19:49196600 [GRCh38]
Chr19:49699857 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1551G>A (p.Pro517=) single nucleotide variant Progressive familial heart block type IB [RCV005188376] Chr19:49182865 [GRCh38]
Chr19:49686122 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1172C>T (p.Ser391Leu) single nucleotide variant Progressive familial heart block type IB [RCV005191051] Chr19:49181370 [GRCh38]
Chr19:49684627 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1063A>G (p.Met355Val) single nucleotide variant Progressive familial heart block type IB [RCV005144284] Chr19:49172021 [GRCh38]
Chr19:49675278 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.183G>C (p.Trp61Cys) single nucleotide variant Progressive familial heart block type IB [RCV005206970] Chr19:49166131 [GRCh38]
Chr19:49669388 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1451C>A (p.Ala484Glu) single nucleotide variant Progressive familial heart block type IB [RCV005156222] Chr19:49182765 [GRCh38]
Chr19:49686022 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.569C>A (p.Pro190His) single nucleotide variant Progressive familial heart block type IB [RCV005119712] Chr19:49168380 [GRCh38]
Chr19:49671637 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.619T>A (p.Phe207Ile) single nucleotide variant Progressive familial heart block type IB [RCV005137085] Chr19:49168559 [GRCh38]
Chr19:49671816 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2645+11C>G single nucleotide variant Progressive familial heart block type IB [RCV005070056] Chr19:49196885 [GRCh38]
Chr19:49700142 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2778+13C>T single nucleotide variant Progressive familial heart block type IB [RCV005191761] Chr19:49200445 [GRCh38]
Chr19:49703702 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1151-13C>T single nucleotide variant Progressive familial heart block type IB [RCV005116089] Chr19:49181336 [GRCh38]
Chr19:49684593 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1563C>T (p.Ser521=) single nucleotide variant Progressive familial heart block type IB [RCV005148132] Chr19:49182877 [GRCh38]
Chr19:49686134 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2133-8C>T single nucleotide variant Progressive familial heart block type IB [RCV005204056] Chr19:49190688 [GRCh38]
Chr19:49693945 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1580C>G (p.Pro527Arg) single nucleotide variant Progressive familial heart block type IB [RCV005180997] Chr19:49182894 [GRCh38]
Chr19:49686151 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.548TGG[1] (p.Val184del) microsatellite Progressive familial heart block type IB [RCV005131384] Chr19:49168357..49168359 [GRCh38]
Chr19:49671614..49671616 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3482A>T (p.Gln1161Leu) single nucleotide variant Progressive familial heart block type IB [RCV005194618] Chr19:49211035 [GRCh38]
Chr19:49714292 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2851del (p.Leu951fs) deletion Progressive familial heart block type IB [RCV005176713] Chr19:49200683 [GRCh38]
Chr19:49703940 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2472G>A (p.Leu824=) single nucleotide variant Progressive familial heart block type IB [RCV005148731] Chr19:49196701 [GRCh38]
Chr19:49699958 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3474A>C (p.Ala1158=) single nucleotide variant Progressive familial heart block type IB [RCV005155068] Chr19:49211027 [GRCh38]
Chr19:49714284 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2360T>A (p.Val787Glu) single nucleotide variant Progressive familial heart block type IB [RCV005123057] Chr19:49196589 [GRCh38]
Chr19:49699846 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.302C>T (p.Ala101Val) single nucleotide variant Progressive familial heart block type IB [RCV005151103] Chr19:49167951 [GRCh38]
Chr19:49671208 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2964G>A (p.Met988Ile) single nucleotide variant Progressive familial heart block type IB [RCV005120639] Chr19:49201974 [GRCh38]
Chr19:49705231 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3641-4C>T single nucleotide variant Progressive familial heart block type IB [RCV005141674] Chr19:49211490 [GRCh38]
Chr19:49714747 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2132+9C>A single nucleotide variant Progressive familial heart block type IB [RCV005120606] Chr19:49190329 [GRCh38]
Chr19:49693586 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3234C>T (p.Pro1078=) single nucleotide variant Progressive familial heart block type IB [RCV005189857] Chr19:49210311 [GRCh38]
Chr19:49713568 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2133-8C>A single nucleotide variant Progressive familial heart block type IB [RCV005120922] Chr19:49190688 [GRCh38]
Chr19:49693945 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.796+13A>G single nucleotide variant Progressive familial heart block type IB [RCV005139100] Chr19:49168749 [GRCh38]
Chr19:49672006 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1325G>C (p.Arg442Pro) single nucleotide variant Progressive familial heart block type IB [RCV005165647] Chr19:49182639 [GRCh38]
Chr19:49685896 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1220del (p.Asp407fs) deletion Progressive familial heart block type IB [RCV005077189] Chr19:49181418 [GRCh38]
Chr19:49684675 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2211-8C>T single nucleotide variant Progressive familial heart block type IB [RCV005108933] Chr19:49196432 [GRCh38]
Chr19:49699689 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1842C>A (p.Asp614Glu) single nucleotide variant Progressive familial heart block type IB [RCV005071532] Chr19:49188739 [GRCh38]
Chr19:49691996 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3301C>G (p.Pro1101Ala) single nucleotide variant Progressive familial heart block type IB [RCV005194272] Chr19:49210378 [GRCh38]
Chr19:49713635 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3640+1_3641-61del deletion Progressive familial heart block type IB [RCV005139243] Chr19:49211268..49211431 [GRCh38]
Chr19:49714525..49714688 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.442A>G (p.Ser148Gly) single nucleotide variant Progressive familial heart block type IB [RCV005161439] Chr19:49168091 [GRCh38]
Chr19:49671348 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1289T>C (p.Met430Thr) single nucleotide variant Progressive familial heart block type IB [RCV005079391] Chr19:49182603 [GRCh38]
Chr19:49685860 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2308C>T (p.Arg770Cys) single nucleotide variant Progressive familial heart block type IB [RCV005161789] Chr19:49196537 [GRCh38]
Chr19:49699794 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3257G>T (p.Arg1086Leu) single nucleotide variant Progressive familial heart block type IB [RCV005199330] Chr19:49210334 [GRCh38]
Chr19:49713591 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1050_1050+19del deletion Progressive familial heart block type IB [RCV005185408] Chr19:49171763..49171782 [GRCh38]
Chr19:49675020..49675039 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.148G>A (p.Glu50Lys) single nucleotide variant Progressive familial heart block type IB [RCV005160255] Chr19:49166096 [GRCh38]
Chr19:49669353 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2213C>T (p.Thr738Met) single nucleotide variant Progressive familial heart block type IB [RCV005166106] Chr19:49196442 [GRCh38]
Chr19:49699699 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1713G>A (p.Arg571=) single nucleotide variant Progressive familial heart block type IB [RCV005150233] Chr19:49183182 [GRCh38]
Chr19:49686439 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2946C>A (p.Asp982Glu) single nucleotide variant Progressive familial heart block type IB [RCV005116315] Chr19:49200778 [GRCh38]
Chr19:49704035 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.403C>T (p.Gln135Ter) single nucleotide variant Progressive familial heart block type IB [RCV005193610] Chr19:49168052 [GRCh38]
Chr19:49671309 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2743C>G (p.Gln915Glu) single nucleotide variant Progressive familial heart block type IB [RCV005124793] Chr19:49200397 [GRCh38]
Chr19:49703654 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1262G>A (p.Arg421Gln) single nucleotide variant Progressive familial heart block type IB [RCV005136546] Chr19:49181460 [GRCh38]
Chr19:49684717 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3613C>T (p.Pro1205Ser) single nucleotide variant Progressive familial heart block type IB [RCV005078083] Chr19:49211242 [GRCh38]
Chr19:49714499 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1150+7G>C single nucleotide variant Progressive familial heart block type IB [RCV005191749] Chr19:49172115 [GRCh38]
Chr19:49675372 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1701G>A (p.Leu567=) single nucleotide variant Progressive familial heart block type IB [RCV005130513] Chr19:49183170 [GRCh38]
Chr19:49686427 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1955C>T (p.Ala652Val) single nucleotide variant Progressive familial heart block type IB [RCV005201994] Chr19:49189027 [GRCh38]
Chr19:49692284 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.863T>C (p.Ile288Thr) single nucleotide variant Progressive familial heart block type IB [RCV005199725] Chr19:49171582 [GRCh38]
Chr19:49674839 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.583C>T (p.Arg195Trp) single nucleotide variant Progressive familial heart block type IB [RCV005181224] Chr19:49168394 [GRCh38]
Chr19:49671651 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1743+20T>C single nucleotide variant Progressive familial heart block type IB [RCV005114551] Chr19:49183232 [GRCh38]
Chr19:49686489 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2451C>G (p.Leu817=) single nucleotide variant Progressive familial heart block type IB [RCV005124995] Chr19:49196680 [GRCh38]
Chr19:49699937 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1608+12G>A single nucleotide variant Progressive familial heart block type IB [RCV005153972] Chr19:49182934 [GRCh38]
Chr19:49686191 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3343A>T (p.Lys1115Ter) single nucleotide variant Progressive familial heart block type IB [RCV005179065] Chr19:49210724 [GRCh38]
Chr19:49713981 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2286C>G (p.Arg762=) single nucleotide variant Progressive familial heart block type IB [RCV005152859] Chr19:49196515 [GRCh38]
Chr19:49699772 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1847C>T (p.Ala616Val) single nucleotide variant Progressive familial heart block type IB [RCV005183731] Chr19:49188744 [GRCh38]
Chr19:49692001 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2778+20A>G single nucleotide variant Progressive familial heart block type IB [RCV005152847] Chr19:49200452 [GRCh38]
Chr19:49703709 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3079T>A (p.Phe1027Ile) single nucleotide variant Progressive familial heart block type IB [RCV005204442] Chr19:49202089 [GRCh38]
Chr19:49705346 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.811A>G (p.Ile271Val) single nucleotide variant Progressive familial heart block type IB [RCV005198559] Chr19:49171371 [GRCh38]
Chr19:49674628 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1908G>A (p.Val636=) single nucleotide variant Progressive familial heart block type IB [RCV005181513] Chr19:49188980 [GRCh38]
Chr19:49692237 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1609-5G>A single nucleotide variant Progressive familial heart block type IB [RCV005201280] Chr19:49183073 [GRCh38]
Chr19:49686330 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2520C>T (p.Leu840=) single nucleotide variant Progressive familial heart block type IB [RCV005181654] Chr19:49196749 [GRCh38]
Chr19:49700006 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2389T>G (p.Phe797Val) single nucleotide variant Progressive familial heart block type IB [RCV005202509] Chr19:49196618 [GRCh38]
Chr19:49699875 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.200C>T (p.Thr67Ile) single nucleotide variant Progressive familial heart block type IB [RCV005073642] Chr19:49166148 [GRCh38]
Chr19:49669405 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2691C>T (p.Ile897=) single nucleotide variant Progressive familial heart block type IB [RCV005073634] Chr19:49200345 [GRCh38]
Chr19:49703602 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2953+14C>T single nucleotide variant Progressive familial heart block type IB [RCV005183982] Chr19:49200799 [GRCh38]
Chr19:49704056 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.801T>C (p.Thr267=) single nucleotide variant Progressive familial heart block type IB [RCV005204832] Chr19:49171361 [GRCh38]
Chr19:49674618 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2210+1G>A single nucleotide variant Progressive familial heart block type IB [RCV005155523] Chr19:49190774 [GRCh38]
Chr19:49694031 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3046G>T (p.Ala1016Ser) single nucleotide variant Progressive familial heart block type IB [RCV005115139] Chr19:49202056 [GRCh38]
Chr19:49705313 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1263+19G>T single nucleotide variant Progressive familial heart block type IB [RCV005184342] Chr19:49181480 [GRCh38]
Chr19:49684737 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.796+30_796+43dup duplication Progressive familial heart block type IB [RCV005069377] Chr19:49168754..49168755 [GRCh38]
Chr19:49672011..49672012 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1928T>G (p.Leu643Arg) single nucleotide variant Progressive familial heart block type IB [RCV005203006] Chr19:49189000 [GRCh38]
Chr19:49692257 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2954-20C>G single nucleotide variant Progressive familial heart block type IB [RCV005154708] Chr19:49201944 [GRCh38]
Chr19:49705201 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2132+1G>T single nucleotide variant Progressive familial heart block type IB [RCV005197346] Chr19:49190321 [GRCh38]
Chr19:49693578 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1360T>C (p.Phe454Leu) single nucleotide variant Progressive familial heart block type IB [RCV005176431] Chr19:49182674 [GRCh38]
Chr19:49685931 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.448+1G>A single nucleotide variant Progressive familial heart block type IB [RCV005199459] Chr19:49168098 [GRCh38]
Chr19:49671355 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2954-19T>G single nucleotide variant Progressive familial heart block type IB [RCV005126703] Chr19:49201945 [GRCh38]
Chr19:49705202 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1607G>T (p.Ser536Ile) single nucleotide variant Progressive familial heart block type IB [RCV005152448] Chr19:49182921 [GRCh38]
Chr19:49686178 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2905C>T (p.Arg969Cys) single nucleotide variant Cardiovascular phenotype [RCV005296118] Chr19:49200737 [GRCh38]
Chr19:49703994 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3505G>A (p.Glu1169Lys) single nucleotide variant Cardiovascular phenotype [RCV005292678] Chr19:49211058 [GRCh38]
Chr19:49714315 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2817_2825del (p.Trp940_Val942del) deletion Cardiovascular phenotype [RCV005292683] Chr19:49200647..49200655 [GRCh38]
Chr19:49703904..49703912 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3341C>G (p.Ser1114Cys) single nucleotide variant Cardiovascular phenotype [RCV005292681] Chr19:49210722 [GRCh38]
Chr19:49713979 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1434C>T (p.Asp478=) single nucleotide variant Cardiovascular phenotype [RCV005292682] Chr19:49182748 [GRCh38]
Chr19:49686005 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1001G>A (p.Arg334Gln) single nucleotide variant Cardiovascular phenotype [RCV005296110] Chr19:49171720 [GRCh38]
Chr19:49674977 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2967G>A (p.Glu989=) single nucleotide variant Cardiovascular phenotype [RCV005292680] Chr19:49201977 [GRCh38]
Chr19:49705234 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.496G>A (p.Val166Ile) single nucleotide variant Cardiovascular phenotype [RCV005292679] Chr19:49168307 [GRCh38]
Chr19:49671564 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3632G>T (p.Gly1211Val) single nucleotide variant Cardiovascular phenotype [RCV005296113] Chr19:49211261 [GRCh38]
Chr19:49714518 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.633C>T (p.Tyr211=) single nucleotide variant Cardiovascular phenotype [RCV005296115] Chr19:49168573 [GRCh38]
Chr19:49671830 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3328+5G>C single nucleotide variant Cardiovascular phenotype [RCV005296114] Chr19:49210410 [GRCh38]
Chr19:49713667 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2337G>A (p.Pro779=) single nucleotide variant Cardiovascular phenotype [RCV005296116] Chr19:49196566 [GRCh38]
Chr19:49699823 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3066G>C (p.Leu1022=) single nucleotide variant Cardiovascular phenotype [RCV005296117] Chr19:49202076 [GRCh38]
Chr19:49705333 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1414C>G (p.Leu472Val) single nucleotide variant Cardiovascular phenotype [RCV005296121] Chr19:49182728 [GRCh38]
Chr19:49685985 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.648C>G (p.Asp216Glu) single nucleotide variant Cardiovascular phenotype [RCV005296112] Chr19:49168588 [GRCh38]
Chr19:49671845 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1135A>G (p.Lys379Glu) single nucleotide variant Cardiovascular phenotype [RCV005292687] Chr19:49172093 [GRCh38]
Chr19:49675350 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2258C>T (p.Ser753Leu) single nucleotide variant Cardiovascular phenotype [RCV005292688] Chr19:49196487 [GRCh38]
Chr19:49699744 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3491A>G (p.His1164Arg) single nucleotide variant Cardiovascular phenotype [RCV005292689] Chr19:49211044 [GRCh38]
Chr19:49714301 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.566C>A (p.Ala189Asp) single nucleotide variant Cardiovascular phenotype [RCV005292690] Chr19:49168377 [GRCh38]
Chr19:49671634 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2959C>T (p.Leu987Phe) single nucleotide variant Cardiovascular phenotype [RCV005292691] Chr19:49201969 [GRCh38]
Chr19:49705226 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2498T>A (p.Leu833Gln) single nucleotide variant Cardiovascular phenotype [RCV005292684] Chr19:49196727 [GRCh38]
Chr19:49699984 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.672C>G (p.Pro224=) single nucleotide variant Cardiovascular phenotype [RCV005292686] Chr19:49168612 [GRCh38]
Chr19:49671869 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3529C>T (p.Arg1177Trp) single nucleotide variant Cardiovascular phenotype [RCV005292685] Chr19:49211082 [GRCh38]
Chr19:49714339 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.502G>A (p.Val168Met) single nucleotide variant Cardiovascular phenotype [RCV005296122] Chr19:49168313 [GRCh38]
Chr19:49671570 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3210C>T (p.His1070=) single nucleotide variant not specified [RCV005405065] Chr19:49210287 [GRCh38]
Chr19:49713544 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3331G>T (p.Val1111Phe) single nucleotide variant not provided [RCV005414113] Chr19:49210712 [GRCh38]
Chr19:49713969 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.773C>T (p.Ser258Leu) single nucleotide variant not provided [RCV005410728] Chr19:49168713 [GRCh38]
Chr19:49671970 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.3131+12C>T single nucleotide variant not specified [RCV005418868] Chr19:49202153 [GRCh38]
Chr19:49705410 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.661G>T (p.Val221Phe) single nucleotide variant not specified [RCV005418786] Chr19:49168601 [GRCh38]
Chr19:49671858 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2040G>T (p.Trp680Cys) single nucleotide variant Cardiovascular phenotype [RCV005405193] Chr19:49190228 [GRCh38]
Chr19:49693485 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.116G>A (p.Arg39His) single nucleotide variant Cardiovascular phenotype [RCV003380386] Chr19:49166064 [GRCh38]
Chr19:49669321 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.2824G>A (p.Val942Ile) single nucleotide variant Cardiovascular phenotype [RCV003380377] Chr19:49200656 [GRCh38]
Chr19:49703913 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1744-3C>T single nucleotide variant Cardiovascular phenotype [RCV003380378] Chr19:49188638 [GRCh38]
Chr19:49691895 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1182G>A (p.Leu394=) single nucleotide variant Cardiovascular phenotype [RCV003380379] Chr19:49181380 [GRCh38]
Chr19:49684637 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.1191G>A (p.Leu397=) single nucleotide variant Cardiovascular phenotype [RCV003380384] Chr19:49181389 [GRCh38]
Chr19:49684646 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.3391A>G (p.Asn1131Asp) single nucleotide variant Cardiovascular phenotype [RCV003380385] Chr19:49210772 [GRCh38]
Chr19:49714029 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017636.4(TRPM4):c.1191G>T (p.Leu397=) single nucleotide variant Cardiovascular phenotype [RCV003380389] Chr19:49181389 [GRCh38]
Chr19:49684646 [GRCh37]
Chr19:19q13.33		 likely benign
NM_017636.4(TRPM4):c.2130C>T (p.Phe710=) single nucleotide variant Cardiovascular phenotype [RCV003380373] Chr19:49190318 [GRCh38]
Chr19:49693575 [GRCh37]
Chr19:19q13.33		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:8816
Count of miRNA genes:1189
Interacting mature miRNAs:1513
Transcripts:ENST00000252826, ENST00000355712, ENST00000427978, ENST00000594568, ENST00000595071, ENST00000595519, ENST00000595882, ENST00000596338, ENST00000597316, ENST00000598502, ENST00000598691, ENST00000598697, ENST00000599459, ENST00000599628, ENST00000601347
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
597322042GWAS1418116_Hhuman Chorionic Gonadotropin measurement QTL GWAS1418116 (human)9e-14chorionic gonadotropin secretion trait (VT:0010412)194918604749186048Human
597316618GWAS1412692_Hvaginal microbiome measurement QTL GWAS1412692 (human)0.000007vaginal microbiome measurement194919376349193764Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
SHGC-30695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,714,960 - 49,715,071UniSTSGRCh37
Build 361954,406,772 - 54,406,883RGDNCBI36
Celera1946,581,845 - 46,581,956RGD
Cytogenetic Map19q13.33UniSTS
HuRef1946,091,971 - 46,092,082UniSTS
GeneMap99-GB4 RH Map19269.45UniSTS
Whitehead-RH Map19349.4UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1656 465 2269 7011 6177 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF497623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ575813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX235185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY046396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY297044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY297045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY297046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM857470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA218254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000252826   ⟹   ENSP00000252826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,157,792 - 49,211,836 (+)Ensembl
Ensembl Acc Id: ENST00000427978   ⟹   ENSP00000407492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,157,815 - 49,211,680 (+)Ensembl
Ensembl Acc Id: ENST00000594568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,167,644 - 49,168,337 (+)Ensembl
Ensembl Acc Id: ENST00000595071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,182,526 - 49,211,836 (+)Ensembl
Ensembl Acc Id: ENST00000595519   ⟹   ENSP00000469893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,157,792 - 49,211,836 (+)Ensembl
Ensembl Acc Id: ENST00000595882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,188,868 - 49,196,716 (+)Ensembl
Ensembl Acc Id: ENST00000596338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,157,832 - 49,211,749 (+)Ensembl
Ensembl Acc Id: ENST00000597316   ⟹   ENSP00000471236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,210,734 - 49,211,834 (+)Ensembl
Ensembl Acc Id: ENST00000598502   ⟹   ENSP00000470229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,157,832 - 49,211,749 (+)Ensembl
Ensembl Acc Id: ENST00000598691   ⟹   ENSP00000473231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,157,741 - 49,171,373 (+)Ensembl
Ensembl Acc Id: ENST00000598697   ⟹   ENSP00000468989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,157,766 - 49,211,834 (+)Ensembl
Ensembl Acc Id: ENST00000599459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,210,601 - 49,211,400 (+)Ensembl
Ensembl Acc Id: ENST00000599628   ⟹   ENSP00000483753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,157,792 - 49,159,921 (+)Ensembl
Ensembl Acc Id: ENST00000601347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,168,627 - 49,182,755 (+)Ensembl
RefSeq Acc Id: NM_001195227   ⟹   NP_001182156
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,157,792 - 49,211,836 (+)NCBI
GRCh371949,661,016 - 49,715,098 (+)ENTREZGENE
HuRef1946,037,071 - 46,092,109 (+)ENTREZGENE
CHM1_11949,662,673 - 49,716,555 (+)NCBI
T2T-CHM13v2.01952,152,347 - 52,209,191 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321281   ⟹   NP_001308210
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,157,792 - 49,211,836 (+)NCBI
CHM1_11949,662,655 - 49,716,555 (+)NCBI
T2T-CHM13v2.01952,152,347 - 52,209,191 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321282   ⟹   NP_001308211
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,157,792 - 49,211,836 (+)NCBI
CHM1_11949,662,655 - 49,716,555 (+)NCBI
T2T-CHM13v2.01952,152,347 - 52,209,191 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321283   ⟹   NP_001308212
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,157,792 - 49,211,836 (+)NCBI
CHM1_11949,662,655 - 49,716,555 (+)NCBI
T2T-CHM13v2.01952,152,347 - 52,209,191 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321285   ⟹   NP_001308214
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,157,792 - 49,211,836 (+)NCBI
CHM1_11949,662,655 - 49,716,555 (+)NCBI
T2T-CHM13v2.01952,152,347 - 52,209,191 (+)NCBI
Sequence:
RefSeq Acc Id: NM_017636   ⟹   NP_060106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,157,792 - 49,211,836 (+)NCBI
GRCh371949,661,016 - 49,715,098 (+)ENTREZGENE
Build 361954,352,864 - 54,406,905 (+)NCBI Archive
HuRef1946,037,071 - 46,092,109 (+)ENTREZGENE
CHM1_11949,662,673 - 49,716,555 (+)NCBI
T2T-CHM13v2.01952,152,347 - 52,209,191 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047438992   ⟹   XP_047294948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,166,222 - 49,211,836 (+)NCBI
RefSeq Acc Id: XM_047438993   ⟹   XP_047294949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,172,013 - 49,211,836 (+)NCBI
RefSeq Acc Id: XM_054321303   ⟹   XP_054177278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,169,234 - 52,209,191 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001182156 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308210 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308211 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308212 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308214 (Get FASTA)   NCBI Sequence Viewer  
  NP_060106 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294948 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294949 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177278 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI32728 (Get FASTA)   NCBI Sequence Viewer  
  AAL02142 (Get FASTA)   NCBI Sequence Viewer  
  AAM18083 (Get FASTA)   NCBI Sequence Viewer  
  AAP44473 (Get FASTA)   NCBI Sequence Viewer  
  AAP44474 (Get FASTA)   NCBI Sequence Viewer  
  AAP44475 (Get FASTA)   NCBI Sequence Viewer  
  BAA90907 (Get FASTA)   NCBI Sequence Viewer  
  BAF85551 (Get FASTA)   NCBI Sequence Viewer  
  BAG58637 (Get FASTA)   NCBI Sequence Viewer  
  CAC69808 (Get FASTA)   NCBI Sequence Viewer  
  CAE05941 (Get FASTA)   NCBI Sequence Viewer  
  EAW52460 (Get FASTA)   NCBI Sequence Viewer  
  EAW52461 (Get FASTA)   NCBI Sequence Viewer  
  EAW52462 (Get FASTA)   NCBI Sequence Viewer  
  EAW52463 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000252826
  ENSP00000252826.4
  ENSP00000407492
  ENSP00000407492.1
GenBank Protein Q8TD43 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_060106   ⟸   NM_017636
- Peptide Label: isoform 1
- UniProtKB: Q96L84 (UniProtKB/Swiss-Prot),   Q7Z5D9 (UniProtKB/Swiss-Prot),   A2RU25 (UniProtKB/Swiss-Prot),   Q9NXV1 (UniProtKB/Swiss-Prot),   Q8TD43 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001182156   ⟸   NM_001195227
- Peptide Label: isoform 2
- UniProtKB: Q8TD43 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308211   ⟸   NM_001321282
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001308210   ⟸   NM_001321281
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001308212   ⟸   NM_001321283
- Peptide Label: isoform 5
- UniProtKB: Q8TD43 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308214   ⟸   NM_001321285
- Peptide Label: isoform 6
- UniProtKB: B4DIX5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000469893   ⟸   ENST00000595519
Ensembl Acc Id: ENSP00000252826   ⟸   ENST00000252826
Ensembl Acc Id: ENSP00000471236   ⟸   ENST00000597316
Ensembl Acc Id: ENSP00000407492   ⟸   ENST00000427978
Ensembl Acc Id: ENSP00000473231   ⟸   ENST00000598691
Ensembl Acc Id: ENSP00000468989   ⟸   ENST00000598697
Ensembl Acc Id: ENSP00000470229   ⟸   ENST00000598502
Ensembl Acc Id: ENSP00000483753   ⟸   ENST00000599628
RefSeq Acc Id: XP_047294948   ⟸   XM_047438992
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047294949   ⟸   XM_047438993
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054177278   ⟸   XM_054321303
- Peptide Label: isoform X2
Protein Domains
Ion transport   TRPM SLOG

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TD43-F1-model_v2 AlphaFold Q8TD43 1-1214 view protein structure

Promoters
RGD ID:13205089
Promoter ID:EPDNEW_H26124
Type:initiation region
Name:TRPM4_2
Description:transient receptor potential cation channel subfamily M member4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26127  EPDNEW_H26128  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,149,921 - 49,149,981EPDNEW
RGD ID:13205093
Promoter ID:EPDNEW_H26127
Type:multiple initiation site
Name:TRPM4_3
Description:transient receptor potential cation channel subfamily M member4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26124  EPDNEW_H26128  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,155,534 - 49,155,594EPDNEW
RGD ID:13205095
Promoter ID:EPDNEW_H26128
Type:initiation region
Name:TRPM4_1
Description:transient receptor potential cation channel subfamily M member4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26124  EPDNEW_H26127  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,157,792 - 49,157,852EPDNEW
RGD ID:6796147
Promoter ID:HG_KWN:30523
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562
Transcripts:ENST00000355712,   UC002PMX.1,   UC010EMU.1,   UC010EMV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,352,729 - 54,353,229 (+)MPROMDB
RGD ID:6811802
Promoter ID:HG_ACW:42235
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:TRPM4.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,395,081 - 54,395,581 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17993 AgrOrtholog
COSMIC TRPM4 COSMIC
Ensembl Genes ENSG00000130529 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000252826 ENTREZGENE
  ENST00000252826.10 UniProtKB/Swiss-Prot
  ENST00000427978 ENTREZGENE
  ENST00000427978.6 UniProtKB/Swiss-Prot
  ENST00000595071 ENTREZGENE
GTEx ENSG00000130529 GTEx
HGNC ID HGNC:17993 ENTREZGENE
Human Proteome Map TRPM4 Human Proteome Map
InterPro Ion_trans_dom UniProtKB/Swiss-Prot
  TRPM UniProtKB/Swiss-Prot
  TRPM_SLOG UniProtKB/Swiss-Prot
KEGG Report hsa:54795 UniProtKB/Swiss-Prot
NCBI Gene 54795 ENTREZGENE
OMIM 606936 OMIM
PANTHER PTHR13800:SF6 UniProtKB/Swiss-Prot
  TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 6 UniProtKB/Swiss-Prot
Pfam Ion_trans UniProtKB/Swiss-Prot
  LSDAT_euk UniProtKB/Swiss-Prot
  TRPM2 UniProtKB/Swiss-Prot
PharmGKB PA38272 PharmGKB
Superfamily-SCOP Pseudo ankyrin repeat-like UniProtKB/Swiss-Prot
UniProt A0A087X0Z3_HUMAN UniProtKB/TrEMBL
  A2RU25 ENTREZGENE
  B4DIX5 ENTREZGENE, UniProtKB/TrEMBL
  M0QX92_HUMAN UniProtKB/TrEMBL
  M0QYK7_HUMAN UniProtKB/TrEMBL
  M0QZ19_HUMAN UniProtKB/TrEMBL
  M0R0H1_HUMAN UniProtKB/TrEMBL
  M0R3H6_HUMAN UniProtKB/TrEMBL
  Q7Z5D9 ENTREZGENE
  Q8TD43 ENTREZGENE
  Q96L84 ENTREZGENE
  Q9NXV1 ENTREZGENE
  TRPM4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A2RU25 UniProtKB/Swiss-Prot
  Q7Z5D9 UniProtKB/Swiss-Prot
  Q96L84 UniProtKB/Swiss-Prot
  Q9NXV1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 TRPM4  transient receptor potential cation channel subfamily M member 4    transient receptor potential cation channel, subfamily M, member 4  Symbol and/or name change 5135510 APPROVED