PRDM16 (PR/SET domain 16) - Rat Genome Database

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Gene: PRDM16 (PR/SET domain 16) Homo sapiens
Analyze
Symbol: PRDM16
Name: PR/SET domain 16
RGD ID: 1353101
HGNC Page HGNC:14000
Description: Enables DNA-binding transcription factor binding activity; DNA-binding transcription repressor activity, RNA polymerase II-specific; and transcription cis-regulatory region binding activity. Involved in negative regulation of granulocyte differentiation; negative regulation of transforming growth factor beta receptor signaling pathway; and regulation of DNA-templated transcription. Located in aggresome; cytosol; and nucleoplasm. Implicated in dilated cardiomyopathy 1LL.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CMD1LL; histone-lysine N-methyltransferase PRDM16; KIAA1675; KMT8F; LVNC8; MDS1/EVI1-like gene 1; MEL1; MGC166915; PFM13; PR domain 16; PR domain containing 16; PR domain zinc finger protein 16; PR domain-containing protein 16; PR-domain zinc finger protein 16; transcription factor MEL1
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
GRCh3813,069,203 - 3,438,621 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13,069,168 - 3,438,621 (+)EnsemblGRCh38hg38GRCh38
GRCh3712,985,767 - 3,355,185 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612,975,604 - 3,345,045 (+)NCBINCBI36Build 36hg18NCBI36
Build 3413,008,900 - 3,378,340NCBI
Celera12,184,110 - 2,358,440 (+)NCBICelera
Cytogenetic Map1p36.32NCBI
HuRef12,280,175 - 2,647,923 (+)NCBIHuRef
CHM1_112,973,195 - 3,341,256 (+)NCBICHM1_1
T2T-CHM13v2.012,571,244 - 2,943,423 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1,1-dichloroethene  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrophenol  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
cannabidiol  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
daunorubicin  (EXP)
dexamethasone  (EXP,ISO)
dioxygen  (ISO)
dorsomorphin  (EXP,ISO)
doxorubicin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
folic acid  (EXP,ISO)
fonofos  (EXP)
fulvestrant  (EXP)
Geniposide  (ISO)
harmine  (ISO)
indometacin  (ISO)
L-methionine  (ISO)
Licarin A  (ISO)
mangiferin  (ISO)
methamphetamine  (ISO)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
mitoxantrone  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N,N-diethyl-m-toluamide  (ISO)
nickel atom  (EXP)
nicotine  (ISO)
nitrofen  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
O-methyleugenol  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
parathion  (EXP)
pentanal  (EXP)
perfluorononanoic acid  (EXP)
permethrin  (ISO)
phenylmercury acetate  (EXP)
propanal  (EXP)
resveratrol  (EXP,ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
terbufos  (EXP)
tetrachloromethane  (ISO)
thiram  (EXP)
tofacitinib  (EXP)
tributylstannane  (EXP,ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
aggresome  (IDA)
cytoplasm  (IEA)
cytosol  (IDA,TAS)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)
transcription repressor complex  (ISS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
11 pairs of ribs  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal eyebrow morphology  (IAGP)
Abnormal female external genitalia morphology  (IAGP)
Abnormal heart valve morphology  (IAGP)
Abnormal intestine morphology  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the anus  (IAGP)
Abnormality of the immune system  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the neck  (IAGP)
Abnormality of the spleen  (IAGP)
Abnormality of vision  (IAGP)
Absent speech  (IAGP)
Agenesis of corpus callosum  (IAGP)
Annular pancreas  (IAGP)
Aortic arch aneurysm  (IAGP)
Arrhythmia  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid ribs  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Cataract  (IAGP)
Cerebral cortical atrophy  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Conductive hearing impairment  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Deeply set eye  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dysphagia  (IAGP)
Edema  (IAGP)
EEG abnormality  (IAGP)
EMG abnormality  (IAGP)
Epicanthus  (IAGP)
Exertional dyspnea  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Feeding difficulties in infancy  (IAGP)
Foot polydactyly  (IAGP)
Frontal bossing  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hirsutism  (IAGP)
Global developmental delay  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hepatic steatosis  (IAGP)
High hypermetropia  (IAGP)
Hip dysplasia  (IAGP)
Horizontal eyebrow  (IAGP)
Hydronephrosis  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypospadias  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Joint stiffness  (IAGP)
Juvenile onset  (IAGP)
Kyphosis  (IAGP)
Left ventricular diastolic dysfunction  (IAGP)
Left ventricular noncompaction  (IAGP)
Left ventricular noncompaction cardiomyopathy  (IAGP)
Left ventricular systolic dysfunction  (IAGP)
Lipoatrophy  (IAGP)
Long philtrum  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lower limb asymmetry  (IAGP)
Macule  (IAGP)
Microcephaly  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Mitral regurgitation  (IAGP)
Motor stereotypy  (IAGP)
Myopathy  (IAGP)
Narrow mouth  (IAGP)
Neuroblastoma  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ocular albinism  (IAGP)
Optic atrophy  (IAGP)
Orthopnea  (IAGP)
Patent ductus arteriosus  (IAGP)
Pointed chin  (IAGP)
Polyphagia  (IAGP)
Poor speech  (IAGP)
Pyloric stenosis  (IAGP)
Renal cyst  (IAGP)
Rib fusion  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short foot  (IAGP)
Short stature  (IAGP)
Spinal canal stenosis  (IAGP)
Strabismus  (IAGP)
Telangiectasia  (IAGP)
Tetralogy of Fallot  (IAGP)
Thromboembolic stroke  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Wide nasal bridge  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Histone lysine methylation dynamics: establishment, regulation, and biological impact. Black JC, etal., Mol Cell. 2012 Nov 30;48(4):491-507. doi: 10.1016/j.molcel.2012.11.006.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:4063527   PMID:8547101   PMID:11050005   PMID:11214970   PMID:12168954   PMID:12477932   PMID:12557231   PMID:12816872   PMID:14656887   PMID:14702039   PMID:14712237   PMID:16582916  
PMID:16598304   PMID:18202228   PMID:18767145   PMID:19049980   PMID:19240061   PMID:19285866   PMID:19505873   PMID:19567523   PMID:19641492   PMID:20101261   PMID:20339536   PMID:20379614  
PMID:20634891   PMID:21516122   PMID:21666692   PMID:21873635   PMID:22039459   PMID:22050763   PMID:22072275   PMID:22383139   PMID:22939622   PMID:23454374   PMID:23524569   PMID:23768516  
PMID:23793025   PMID:24021092   PMID:24327154   PMID:24439384   PMID:24674449   PMID:24703692   PMID:24717670   PMID:24863034   PMID:24966940   PMID:24981860   PMID:25035420   PMID:25085501  
PMID:25567132   PMID:25578880   PMID:25644605   PMID:25662275   PMID:26186194   PMID:26502740   PMID:26559765   PMID:26684393   PMID:26701852   PMID:27151440   PMID:27511603   PMID:28058730  
PMID:28514442   PMID:28701693   PMID:28710806   PMID:28824327   PMID:29539416   PMID:30021884   PMID:30132554   PMID:30382894   PMID:30446899   PMID:30462309   PMID:30465343   PMID:30635810  
PMID:30683132   PMID:31270104   PMID:31557325   PMID:31753913   PMID:31965688   PMID:32251515   PMID:32296183   PMID:32513696   PMID:32902355   PMID:33086060   PMID:33127174   PMID:33961781  
PMID:34718051   PMID:35013309   PMID:35016035   PMID:35140242   PMID:35454329   PMID:35473465   PMID:35563538   PMID:35748872   PMID:36128801   PMID:36174906   PMID:36243803   PMID:36639264  
PMID:37211698   PMID:37395136   PMID:37574723   PMID:37602452   PMID:37827155   PMID:38072665   PMID:38113297   PMID:38297188  


Genomics

Comparative Map Data
PRDM16
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813,069,203 - 3,438,621 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13,069,168 - 3,438,621 (+)EnsemblGRCh38hg38GRCh38
GRCh3712,985,767 - 3,355,185 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612,975,604 - 3,345,045 (+)NCBINCBI36Build 36hg18NCBI36
Build 3413,008,900 - 3,378,340NCBI
Celera12,184,110 - 2,358,440 (+)NCBICelera
Cytogenetic Map1p36.32NCBI
HuRef12,280,175 - 2,647,923 (+)NCBIHuRef
CHM1_112,973,195 - 3,341,256 (+)NCBICHM1_1
T2T-CHM13v2.012,571,244 - 2,943,423 (+)NCBIT2T-CHM13v2.0
Prdm16
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394154,400,579 - 154,721,851 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4154,400,582 - 154,721,330 (-)EnsemblGRCm39 Ensembl
GRCm384154,316,122 - 154,637,360 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4154,316,125 - 154,636,873 (-)EnsemblGRCm38mm10GRCm38
MGSCv374153,690,234 - 154,010,982 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364153,164,092 - 153,372,731 (-)NCBIMGSCv36mm8
Celera4156,598,275 - 156,807,441 (-)NCBICelera
Cytogenetic Map4E2NCBI
cM Map483.96NCBI
Prdm16
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85170,162,275 - 170,486,371 (-)NCBIGRCr8
mRatBN7.25164,879,864 - 165,203,986 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5164,880,587 - 165,203,601 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.05171,662,277 - 171,711,561 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5171,662,277 - 171,710,316 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05175,133,484 - 175,180,206 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera5163,089,927 - 163,303,567 (-)NCBICelera
Cytogenetic Map5q36NCBI
Prdm16
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554868,137,531 - 8,327,977 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554868,139,848 - 8,327,788 (-)NCBIChiLan1.0ChiLan1.0
PRDM16
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21224,877,659 - 225,250,335 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11223,521,103 - 223,895,049 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011,730,122 - 2,100,636 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112,981,854 - 3,231,741 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12,981,667 - 3,234,251 (+)Ensemblpanpan1.1panPan2
PRDM16
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1557,805,951 - 58,018,817 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl557,730,370 - 58,017,976 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha557,715,820 - 58,029,862 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0557,906,183 - 58,220,251 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl557,906,344 - 58,217,945 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1557,897,209 - 58,231,011 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0557,789,743 - 58,103,696 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0558,179,637 - 58,493,763 (+)NCBIUU_Cfam_GSD_1.0
Prdm16
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505828,856,802 - 29,063,356 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936737404,846 - 446,985 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936737400,819 - 446,768 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRDM16
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl664,704,920 - 65,012,570 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1664,704,181 - 65,012,580 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2659,668,500 - 59,728,409 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRDM16
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120128,249,894 - 128,613,842 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605432,530,345 - 32,897,713 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prdm16
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248186,978,436 - 7,258,357 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248186,978,436 - 7,258,366 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRDM16
1223 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022114.4(PRDM16):c.49G>A (p.Val17Ile) single nucleotide variant Left ventricular noncompaction 8 [RCV000548450]|PRDM16-related disorder [RCV003935513]|not provided [RCV001696956]|not specified [RCV000615310] Chr1:3186136 [GRCh38]
Chr1:3102700 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.49G>T (p.Val17Phe) single nucleotide variant Left ventricular noncompaction 8 [RCV000528572] Chr1:3186136 [GRCh38]
Chr1:3102700 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3487G>A (p.Ala1163Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000544263] Chr1:3431074 [GRCh38]
Chr1:3347638 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2148G>A (p.Leu716=) single nucleotide variant not provided [RCV000521524] Chr1:3412345 [GRCh38]
Chr1:3328909 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3595C>T (p.Arg1199Cys) single nucleotide variant Left ventricular noncompaction 8 [RCV000545185] Chr1:3432039 [GRCh38]
Chr1:3348603 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2260G>A (p.Glu754Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV000546538]|not provided [RCV001770474] Chr1:3412457 [GRCh38]
Chr1:3329021 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3 copy number gain Distal trisomy 1p36 [RCV000519759] Chr1:852863..4203509 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_022114.4(PRDM16):c.3283C>T (p.Arg1095Trp) single nucleotide variant Left ventricular noncompaction 8 [RCV000822475]|not provided [RCV000521614] Chr1:3426224 [GRCh38]
Chr1:3342788 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2952C>T (p.Cys984=) single nucleotide variant Left ventricular noncompaction 8 [RCV000524705]|not provided [RCV000602987] Chr1:3425593 [GRCh38]
Chr1:3342157 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.2508C>T (p.Gly836=) single nucleotide variant Left ventricular noncompaction 8 [RCV000543219]|not provided [RCV001701029] Chr1:3412705 [GRCh38]
Chr1:3329269 [GRCh37]
Chr1:1p36.32
benign|likely benign|uncertain significance
NM_022114.4(PRDM16):c.3499G>A (p.Val1167Met) single nucleotide variant Left ventricular noncompaction 8 [RCV003741196]|not provided [RCV000518975] Chr1:3431086 [GRCh38]
Chr1:3347650 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3109+12G>A single nucleotide variant Left ventricular noncompaction 8 [RCV002062170]|not specified [RCV000603090] Chr1:3425762 [GRCh38]
Chr1:3342326 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.3406G>A (p.Gly1136Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV000552638]|not provided [RCV001528252] Chr1:3430993 [GRCh38]
Chr1:3347557 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1495C>T (p.Pro499Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV000549933] Chr1:3411692 [GRCh38]
Chr1:3328256 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2247G>A (p.Leu749=) single nucleotide variant Left ventricular noncompaction 8 [RCV000530963] Chr1:3412444 [GRCh38]
Chr1:3329008 [GRCh37]
Chr1:1p36.32
likely benign
NC_000001.11:g.(?_3069240)_(3433831_?)del deletion Left ventricular noncompaction 8 [RCV000544980] Chr1:3069240..3433831 [GRCh38]
Chr1:2985804..3350395 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1668G>A (p.Leu556=) single nucleotide variant Left ventricular noncompaction 8 [RCV000550818]|not provided [RCV001529370]|not specified [RCV001701046] Chr1:3411865 [GRCh38]
Chr1:3328429 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.3424A>G (p.Thr1142Ala) single nucleotide variant Left ventricular noncompaction 8 [RCV000531783] Chr1:3431011 [GRCh38]
Chr1:3347575 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2815C>A (p.Leu939Ile) single nucleotide variant Left ventricular noncompaction 8 [RCV000548693]|not provided [RCV001540935] Chr1:3417951 [GRCh38]
Chr1:3334515 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.398C>T (p.Thr133Met) single nucleotide variant Left ventricular noncompaction 8 [RCV001853652]|not provided [RCV000519955] Chr1:3244097 [GRCh38]
Chr1:3160661 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3141C>T (p.His1047=) single nucleotide variant Left ventricular noncompaction 8 [RCV000526755] Chr1:3426082 [GRCh38]
Chr1:3342646 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1573dup (p.Arg525fs) duplication Left ventricular noncompaction 8 [RCV000054519]|Left ventricular noncompaction cardiomyopathy [RCV002295279]|not provided [RCV002295278] Chr1:3411765..3411766 [GRCh38]
Chr1:3328329..3328330 [GRCh37]
Chr1:1p36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1 copy number loss See cases [RCV000050882] Chr1:844347..3712147 [GRCh38]
Chr1:779727..3628711 [GRCh37]
Chr1:769590..3618571 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1 copy number loss See cases [RCV000050642] Chr1:844347..5682587 [GRCh38]
Chr1:779727..5742647 [GRCh37]
Chr1:769590..5665234 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1 copy number loss See cases [RCV000050647] Chr1:844347..3319395 [GRCh38]
Chr1:779727..3235959 [GRCh37]
Chr1:769590..3225819 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1 copy number loss See cases [RCV000051086] Chr1:2844760..8007940 [GRCh38]
Chr1:2761325..8068000 [GRCh37]
Chr1:2751185..7990587 [NCBI36]
Chr1:1p36.32-36.23
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1 copy number loss See cases [RCV000051143] Chr1:844347..6477436 [GRCh38]
Chr1:779727..6537496 [GRCh37]
Chr1:769590..6460083 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3 copy number gain See cases [RCV000051779] Chr1:792758..5006311 [GRCh38]
Chr1:728138..5066371 [GRCh37]
Chr1:718001..4966231 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3 copy number gain See cases [RCV000051780] Chr1:826553..4719105 [GRCh38]
Chr1:761933..4779165 [GRCh37]
Chr1:751796..4679025 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|See cases [RCV000051782] Chr1:844347..6231924 [GRCh38]
Chr1:779727..6291984 [GRCh37]
Chr1:769590..6214571 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.32(chr1:2659405-3273322)x3 copy number gain See cases [RCV000051783] Chr1:2659405..3273322 [GRCh38]
Chr1:2590844..3189886 [GRCh37]
Chr1:2580704..3179746 [NCBI36]
Chr1:1p36.32
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1 copy number loss See cases [RCV000052045] Chr1:859215..8747647 [GRCh38]
Chr1:794595..8807706 [GRCh37]
Chr1:784458..8730293 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1 copy number loss See cases [RCV000052063] Chr1:870177..4426613 [GRCh38]
Chr1:805557..4486673 [GRCh37]
Chr1:795420..4386533 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1 copy number loss See cases [RCV000052066] Chr1:872305..4133409 [GRCh38]
Chr1:807685..4193469 [GRCh37]
Chr1:797548..4093329 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 copy number loss See cases [RCV000051993] Chr1:629025..8537745 [GRCh38]
Chr1:564405..8597804 [GRCh37]
Chr1:554268..8520391 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1084373-3367776)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]|See cases [RCV000052069] Chr1:1084373..3367776 [GRCh38]
Chr1:1019753..3284340 [GRCh37]
Chr1:1009616..3274200 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1 copy number loss See cases [RCV000051994] Chr1:629044..3346226 [GRCh38]
Chr1:564424..3262790 [GRCh37]
Chr1:554287..3252650 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1 copy number loss See cases [RCV000051995] Chr1:629044..7008678 [GRCh38]
Chr1:564424..7068738 [GRCh37]
Chr1:554287..6991325 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1 copy number loss See cases [RCV000052070] Chr1:1181847..5507243 [GRCh38]
Chr1:1117227..5567303 [GRCh37]
Chr1:1107090..5489890 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1482278-3152536)x1 copy number loss See cases [RCV000052071] Chr1:1482278..3152536 [GRCh38]
Chr1:1417658..3069100 [GRCh37]
Chr1:1407521..3058960 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.32(chr1:2683403-4729121)x1 copy number loss See cases [RCV000052073] Chr1:2683403..4729121 [GRCh38]
Chr1:2614842..4789181 [GRCh37]
Chr1:2604702..4689041 [NCBI36]
Chr1:1p36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1 copy number loss See cases [RCV000051996] Chr1:821713..4155674 [GRCh38]
Chr1:757093..4215734 [GRCh37]
Chr1:746956..4115594 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1 copy number loss See cases [RCV000052014] Chr1:844147..5970026 [GRCh38]
Chr1:779527..6030086 [GRCh37]
Chr1:769390..5952673 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1 copy number loss See cases [RCV000052015] Chr1:844147..5827203 [GRCh38]
Chr1:779527..5887263 [GRCh37]
Chr1:769390..5809850 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1 copy number loss See cases [RCV000052017] Chr1:844147..4598532 [GRCh38]
Chr1:779527..4658592 [GRCh37]
Chr1:769390..4558452 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1 copy number loss See cases [RCV000052018] Chr1:844147..5020772 [GRCh38]
Chr1:779527..5080832 [GRCh37]
Chr1:769390..4980692 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|See cases [RCV000052037] Chr1:844347..5363885 [GRCh38]
Chr1:779727..5423945 [GRCh37]
Chr1:769590..5323805 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] Chr1:844347..10809098 [GRCh38]
Chr1:779727..10869155 [GRCh37]
Chr1:769590..10791742 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|See cases [RCV000052039] Chr1:844347..5431639 [GRCh38]
Chr1:779727..5491699 [GRCh37]
Chr1:769590..5414286 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1 copy number loss See cases [RCV000052040] Chr1:844347..4665295 [GRCh38]
Chr1:779727..4725355 [GRCh37]
Chr1:769590..4625215 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|See cases [RCV000052042] Chr1:844347..7151129 [GRCh38]
Chr1:779727..7211189 [GRCh37]
Chr1:769590..7133776 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13
pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] Chr1:3319336..11243395 [GRCh38]
Chr1:3235900..11303452 [GRCh37]
Chr1:3225760..11226039 [NCBI36]
Chr1:1p36.32-36.22
pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:3438149-8171914)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]|See cases [RCV000053718] Chr1:3438149..8171914 [GRCh38]
Chr1:3354713..8231974 [GRCh37]
Chr1:3344573..8154561 [NCBI36]
Chr1:1p36.32-36.23
pathogenic
NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter) single nucleotide variant Left ventricular noncompaction 8 [RCV000054518]|Left ventricular noncompaction cardiomyopathy [RCV002054880] Chr1:3412301 [GRCh38]
Chr1:3328865 [GRCh37]
Chr1:1p36.32
pathogenic
NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser) single nucleotide variant Familial restrictive cardiomyopathy [RCV000853165]|Left ventricular noncompaction 8 [RCV000054520] Chr1:3412644 [GRCh38]
Chr1:3329208 [GRCh37]
Chr1:1p36.32
pathogenic|uncertain significance
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met) single nucleotide variant Cardiomyopathy, dilated, 1LL [RCV000054521]|Left ventricular noncompaction 8 [RCV000204421]|not provided [RCV001610340]|not specified [RCV000223010] Chr1:3430888 [GRCh38]
Chr1:3347452 [GRCh37]
Chr1:1p36.32
pathogenic|benign|uncertain significance
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu) single nucleotide variant Cardiomyopathy, dilated, 1LL [RCV000054522]|Left ventricular noncompaction 8 [RCV001239707]|Primary dilated cardiomyopathy [RCV001375649] Chr1:3402986 [GRCh38]
Chr1:3319550 [GRCh37]
Chr1:1p36.32
pathogenic|uncertain significance
NM_022114.4(PRDM16):c.2660T>C (p.Leu887Pro) single nucleotide variant Cardiomyopathy, dilated, 1LL [RCV000054523] Chr1:3414616 [GRCh38]
Chr1:3331180 [GRCh37]
Chr1:1p36.32
pathogenic
NM_022114.3(PRDM16):c.2786C>T (p.Pro929Leu) single nucleotide variant Malignant melanoma [RCV000060177] Chr1:3417922 [GRCh38]
Chr1:3334486 [GRCh37]
Chr1:3324346 [NCBI36]
Chr1:1p36.32
not provided
NM_022114.3(PRDM16):c.679G>A (p.Glu227Lys) single nucleotide variant Malignant melanoma [RCV000064723] Chr1:3402793 [GRCh38]
Chr1:3319357 [GRCh37]
Chr1:3309217 [NCBI36]
Chr1:1p36.32
not provided
NM_022114.3(PRDM16):c.2109C>T (p.Tyr703=) single nucleotide variant Malignant melanoma [RCV000064724] Chr1:3412306 [GRCh38]
Chr1:3328870 [GRCh37]
Chr1:3318730 [NCBI36]
Chr1:1p36.32
not provided
NM_022114.4(PRDM16):c.3284+14C>T single nucleotide variant Left ventricular noncompaction 8 [RCV002064283]|not specified [RCV000603211] Chr1:3426239 [GRCh38]
Chr1:3342803 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.884+9C>A single nucleotide variant Left ventricular noncompaction 8 [RCV000865654]|not specified [RCV000602681] Chr1:3403007 [GRCh38]
Chr1:3319571 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.2297G>T (p.Gly766Val) single nucleotide variant not provided [RCV003223879] Chr1:3412494 [GRCh38]
Chr1:3329058 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.534C>A (p.Cys178Ter) single nucleotide variant Left ventricular noncompaction 8 [RCV001331228] Chr1:3385247 [GRCh38]
Chr1:3301811 [GRCh37]
Chr1:1p36.32
pathogenic
GRCh38/hg38 1p36.32(chr1:2701929-3319395)x1 copy number loss See cases [RCV000133849] Chr1:2701929..3319395 [GRCh38]
Chr1:2633368..3235959 [GRCh37]
Chr1:2623228..3225819 [NCBI36]
Chr1:1p36.32
uncertain significance
GRCh38/hg38 1p36.32(chr1:2701929-3244518)x3 copy number gain See cases [RCV000133635] Chr1:2701929..3244518 [GRCh38]
Chr1:2633368..3161082 [GRCh37]
Chr1:2623228..3150942 [NCBI36]
Chr1:1p36.32
uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3 copy number gain See cases [RCV000133658] Chr1:911300..3614487 [GRCh38]
Chr1:846680..3531051 [GRCh37]
Chr1:836543..3520911 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1 copy number loss See cases [RCV000134211] Chr1:1118636..4179080 [GRCh38]
Chr1:1054016..4239140 [GRCh37]
Chr1:1043879..4139000 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1 copy number loss See cases [RCV000134747] Chr1:844353..3487877 [GRCh38]
Chr1:779733..3404441 [GRCh37]
Chr1:769596..3394301 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3 copy number gain See cases [RCV000134750] Chr1:844353..5827192 [GRCh38]
Chr1:779733..5887252 [GRCh37]
Chr1:769596..5809839 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1 copy number loss See cases [RCV000133943] Chr1:844347..6916587 [GRCh38]
Chr1:779727..6976647 [GRCh37]
Chr1:769590..6899234 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1 copy number loss See cases [RCV000134137] Chr1:844347..4398122 [GRCh38]
Chr1:779727..4458182 [GRCh37]
Chr1:769590..4358042 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.32(chr1:3354056-3743487)x3 copy number gain See cases [RCV000135373] Chr1:3354056..3743487 [GRCh38]
Chr1:3270620..3660051 [GRCh37]
Chr1:3260480..3649911 [NCBI36]
Chr1:1p36.32
uncertain significance
GRCh38/hg38 1p36.32(chr1:2778184-3528282)x3 copy number gain See cases [RCV000135557] Chr1:2778184..3528282 [GRCh38]
Chr1:2694731..3444846 [GRCh37]
Chr1:2684591..3434706 [NCBI36]
Chr1:1p36.32
likely benign
GRCh38/hg38 1p36.32(chr1:3319336-3614487)x1 copy number loss See cases [RCV000136588] Chr1:3319336..3614487 [GRCh38]
Chr1:3235900..3531051 [GRCh37]
Chr1:3225760..3520911 [NCBI36]
Chr1:1p36.32
uncertain significance
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1 copy number loss See cases [RCV000136554] Chr1:844347..8171914 [GRCh38]
Chr1:779727..8231974 [GRCh37]
Chr1:769590..8154561 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.32(chr1:2701912-3244554)x3 copy number gain See cases [RCV000136012] Chr1:2701912..3244554 [GRCh38]
Chr1:2633351..3161118 [GRCh37]
Chr1:2623211..3150978 [NCBI36]
Chr1:1p36.32
likely benign
GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1 copy number loss See cases [RCV000136715] Chr1:874379..4973261 [GRCh38]
Chr1:809759..5033321 [GRCh37]
Chr1:799622..4933181 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22
pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1 copy number loss See cases [RCV000137587] Chr1:2906020..5336116 [GRCh38]
Chr1:2822585..5396176 [GRCh37]
Chr1:2812445..5296036 [NCBI36]
Chr1:1p36.32-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1 copy number loss See cases [RCV000137380] Chr1:1022094..4665295 [GRCh38]
Chr1:957474..4725355 [GRCh37]
Chr1:947337..4625215 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1 copy number loss See cases [RCV000138225] Chr1:821713..3569891 [GRCh38]
Chr1:757093..3486455 [GRCh37]
Chr1:746956..3476315 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3 copy number gain See cases [RCV000138165] Chr1:821713..3928354 [GRCh38]
Chr1:757093..3823583 [GRCh37]
Chr1:746956..3834778 [NCBI36]
Chr1:1p36.33-36.32
likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1 copy number loss See cases [RCV000137978] Chr1:821713..5239643 [GRCh38]
Chr1:757093..5299703 [GRCh37]
Chr1:746956..5199563 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1 copy number loss See cases [RCV000138704] Chr1:844353..3153909 [GRCh38]
Chr1:779733..3070473 [GRCh37]
Chr1:769596..3060333 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1 copy number loss See cases [RCV000139404] Chr1:844353..6477474 [GRCh38]
Chr1:779733..6537534 [GRCh37]
Chr1:769596..6460121 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4 copy number gain See cases [RCV000138951] Chr1:1756301..3649513 [GRCh38]
Chr1:1687740..3566077 [GRCh37]
Chr1:1677600..3555937 [NCBI36]
Chr1:1p36.33-36.32
uncertain significance
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1 copy number loss See cases [RCV000138896] Chr1:821713..7000838 [GRCh38]
Chr1:757093..7060898 [GRCh37]
Chr1:746956..6983485 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1 copy number loss See cases [RCV000140164] Chr1:778698..4898439 [GRCh38]
Chr1:714078..4958499 [GRCh37]
Chr1:703941..4858359 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1 copy number loss See cases [RCV000139780] Chr1:821713..3438208 [GRCh38]
Chr1:757093..3354772 [GRCh37]
Chr1:746956..3344632 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3 copy number gain See cases [RCV000139659] Chr1:1330915..3743546 [GRCh38]
Chr1:1266295..3660110 [GRCh37]
Chr1:1256158..3649970 [NCBI36]
Chr1:1p36.33-36.32
uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1 copy number loss See cases [RCV000141318] Chr1:821713..5099990 [GRCh38]
Chr1:757093..5160050 [GRCh37]
Chr1:746956..5059910 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1 copy number loss See cases [RCV000141356] Chr1:821713..4225085 [GRCh38]
Chr1:757093..4285145 [GRCh37]
Chr1:746956..4185005 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1 copy number loss See cases [RCV000140709] Chr1:821713..5480263 [GRCh38]
Chr1:757093..5540323 [GRCh37]
Chr1:746956..5462910 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1 copy number loss See cases [RCV000140894] Chr1:914086..3305463 [GRCh38]
Chr1:849466..3222027 [GRCh37]
Chr1:839329..3211887 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 copy number loss See cases [RCV000141970] Chr1:914086..9567122 [GRCh38]
Chr1:849466..9627180 [GRCh37]
Chr1:839329..9549767 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 copy number loss See cases [RCV000141577] Chr1:902111..9556305 [GRCh38]
Chr1:837491..9616363 [GRCh37]
Chr1:827354..9538950 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.32(chr1:2688448-3286320)x3 copy number gain See cases [RCV000141721] Chr1:2688448..3286320 [GRCh38]
Chr1:2619887..3202884 [GRCh37]
Chr1:2609747..3192744 [NCBI36]
Chr1:1p36.32
conflicting data from submitters
GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1 copy number loss See cases [RCV000141668] Chr1:914086..3587042 [GRCh38]
Chr1:849466..3503606 [GRCh37]
Chr1:839329..3493466 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1 copy number loss See cases [RCV000141437] Chr1:2868477..7332569 [GRCh38]
Chr1:2785042..7392629 [GRCh37]
Chr1:2774902..7315216 [NCBI36]
Chr1:1p36.32-36.23
pathogenic
NM_022114.4(PRDM16):c.2747C>T (p.Ala916Val) single nucleotide variant Left ventricular noncompaction 8 [RCV001210888]|not provided [RCV001582701]|not specified [RCV000203205] Chr1:3417883 [GRCh38]
Chr1:3334447 [GRCh37]
Chr1:1p36.32
likely pathogenic|benign|uncertain significance
GRCh38/hg38 1p36.32(chr1:2999618-3203165)x3 copy number gain See cases [RCV000142164] Chr1:2999618..3203165 [GRCh38]
Chr1:2916182..3119729 [GRCh37]
Chr1:2906042..3109589 [NCBI36]
Chr1:1p36.32
uncertain significance
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1 copy number loss See cases [RCV000142651] Chr1:898721..7811306 [GRCh38]
Chr1:834101..7871366 [GRCh37]
Chr1:823964..7793953 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 copy number loss See cases [RCV000142615] Chr1:911300..9329925 [GRCh38]
Chr1:846680..9389984 [GRCh37]
Chr1:836543..9312571 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1 copy number loss See cases [RCV000142709] Chr1:844347..7870545 [GRCh38]
Chr1:779727..7930605 [GRCh37]
Chr1:769590..7853192 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
NM_022114.4(PRDM16):c.2100C>T (p.Ala700=) single nucleotide variant Left ventricular noncompaction 8 [RCV000204005] Chr1:3412297 [GRCh38]
Chr1:3328861 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1071C>T (p.Arg357=) single nucleotide variant Left ventricular noncompaction 8 [RCV000204192]|PRDM16-related disorder [RCV003927882]|not specified [RCV000220538] Chr1:3405533 [GRCh38]
Chr1:3322097 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3729C>T (p.Asp1243=) single nucleotide variant Left ventricular noncompaction 8 [RCV000546387] Chr1:3433709 [GRCh38]
Chr1:3350273 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2786C>A (p.Pro929His) single nucleotide variant Left ventricular noncompaction 8 [RCV000687422]|PRDM16-related disorder [RCV003967594]|not provided [RCV001697188]|not specified [RCV000219521] Chr1:3417922 [GRCh38]
Chr1:3334486 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.2060G>C (p.Gly687Ala) single nucleotide variant not specified [RCV000221873] Chr1:3412257 [GRCh38]
Chr1:3328821 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=) single nucleotide variant Left ventricular noncompaction 8 [RCV000230341]|not provided [RCV001727637]|not specified [RCV000217174] Chr1:3411409 [GRCh38]
Chr1:3327973 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.2502C>T (p.Gly834=) single nucleotide variant Left ventricular noncompaction 8 [RCV001514141]|not specified [RCV000219694] Chr1:3412699 [GRCh38]
Chr1:3329263 [GRCh37]
Chr1:1p36.32
benign
NM_022114.3(PRDM16):c.666C>T (p.Pro222=) single nucleotide variant not specified [RCV000222053] Chr1:3396583 [GRCh38]
Chr1:3313147 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2290G>A (p.Val764Met) single nucleotide variant Inborn genetic diseases [RCV004020630]|Left ventricular noncompaction 8 [RCV000226109]|PRDM16-related disorder [RCV003937854]|not provided [RCV001529087]|not specified [RCV000217269] Chr1:3412487 [GRCh38]
Chr1:3329051 [GRCh37]
Chr1:1p36.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.1597T>C (p.Ser533Pro) single nucleotide variant Left ventricular noncompaction 8 [RCV000986221]|not specified [RCV000217271] Chr1:3411794 [GRCh38]
Chr1:3328358 [GRCh37]
Chr1:1p36.32
benign
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
NM_022114.4(PRDM16):c.822C>T (p.Gly274=) single nucleotide variant Left ventricular noncompaction 8 [RCV001408119]|not specified [RCV000217462] Chr1:3402936 [GRCh38]
Chr1:3319500 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3687T>C (p.Ala1229=) single nucleotide variant Left ventricular noncompaction 8 [RCV000533903]|not provided [RCV001722152]|not specified [RCV000219826] Chr1:3432131 [GRCh38]
Chr1:3348695 [GRCh37]
Chr1:1p36.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_022114.4(PRDM16):c.2856G>A (p.Thr952=) single nucleotide variant Left ventricular noncompaction 8 [RCV000866661]|not provided [RCV001697286]|not specified [RCV000219939] Chr1:3417992 [GRCh38]
Chr1:3334556 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.429C>T (p.Cys143=) single nucleotide variant Left ventricular noncompaction 8 [RCV000559512]|PRDM16-related disorder [RCV003967576]|not provided [RCV001697243]|not specified [RCV000219941] Chr1:3244128 [GRCh38]
Chr1:3160692 [GRCh37]
Chr1:1p36.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_022114.4(PRDM16):c.1574G>A (p.Arg525Gln) single nucleotide variant Inborn genetic diseases [RCV002518187]|Left ventricular noncompaction 8 [RCV000694897]|not provided [RCV001762464]|not specified [RCV000213365] Chr1:3411771 [GRCh38]
Chr1:3328335 [GRCh37]
Chr1:1p36.32
conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.3366C>T (p.Asp1122=) single nucleotide variant Left ventricular noncompaction 8 [RCV000527413]|not specified [RCV000213381] Chr1:3430953 [GRCh38]
Chr1:3347517 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.3(PRDM16):c.884+9_884+39del31 deletion not specified [RCV000213382] Chr1:3403007..3403037 [GRCh38]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1877A>T (p.Asp626Val) single nucleotide variant PRDM16-related disorder [RCV003967593]|not specified [RCV000217585] Chr1:3412074 [GRCh38]
Chr1:3328638 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.657A>C (p.Thr219=) single nucleotide variant not specified [RCV000217723] Chr1:3396574 [GRCh38]
Chr1:3313138 [GRCh37]
Chr1:1p36.32
likely benign
chr1:909238-16736132 complex variant complex Breast ductal adenocarcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13
uncertain significance
NM_022114.4(PRDM16):c.444C>T (p.Ser148=) single nucleotide variant Left ventricular noncompaction 8 [RCV001523547]|not specified [RCV000213616] Chr1:3385157 [GRCh38]
Chr1:3301721 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3109+12G>C single nucleotide variant Left ventricular noncompaction 8 [RCV002057138]|not specified [RCV000213653] Chr1:3425762 [GRCh38]
Chr1:3342326 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.1081G>A (p.Val361Met) single nucleotide variant Left ventricular noncompaction 8 [RCV000692775]|not specified [RCV000213682] Chr1:3405543 [GRCh38]
Chr1:3322107 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.627C>T (p.His209=) single nucleotide variant Left ventricular noncompaction 8 [RCV000470033]|not provided [RCV003736645]|not specified [RCV000217911] Chr1:3396544 [GRCh38]
Chr1:3313108 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.201G>A (p.Pro67=) single nucleotide variant Left ventricular noncompaction 8 [RCV000228859]|not provided [RCV001529610]|not specified [RCV000220218] Chr1:3186288 [GRCh38]
Chr1:3102852 [GRCh37]
Chr1:1p36.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_022114.4(PRDM16):c.3110-4G>A single nucleotide variant Left ventricular noncompaction 8 [RCV000465584]|not provided [RCV001723795]|not specified [RCV000217996] Chr1:3426047 [GRCh38]
Chr1:3342611 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe) single nucleotide variant Left ventricular noncompaction 8 [RCV000232612]|not specified [RCV000215790] Chr1:3426071 [GRCh38]
Chr1:3342635 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.1113C>T (p.Cys371=) single nucleotide variant Left ventricular noncompaction 8 [RCV000475757]|not provided [RCV003736643]|not specified [RCV000214207] Chr1:3405575 [GRCh38]
Chr1:3322139 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1977G>A (p.Pro659=) single nucleotide variant Left ventricular noncompaction 8 [RCV002054953]|not specified [RCV000215898] Chr1:3412174 [GRCh38]
Chr1:3328738 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1134C>G (p.Ser378=) single nucleotide variant Left ventricular noncompaction 8 [RCV000463379]|not provided [RCV001722161]|not specified [RCV000222431] Chr1:3405596 [GRCh38]
Chr1:3322160 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.-14C>A single nucleotide variant not provided [RCV001726052]|not specified [RCV000214266] Chr1:3069246 [GRCh38]
Chr1:2985810 [GRCh37]
Chr1:1p36.32
benign|likely benign|not provided
NM_022114.4(PRDM16):c.2089G>T (p.Ala697Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV000651651]|not specified [RCV000214303] Chr1:3412286 [GRCh38]
Chr1:3328850 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1518G>A (p.Thr506=) single nucleotide variant Left ventricular noncompaction 8 [RCV000461808]|PRDM16-related disorder [RCV003955250]|not specified [RCV000214308] Chr1:3411715 [GRCh38]
Chr1:3328279 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.783C>T (p.Tyr261=) single nucleotide variant Left ventricular noncompaction 8 [RCV000228241]|PRDM16-related disorder [RCV003917889]|not provided [RCV003736646]|not specified [RCV000220870] Chr1:3402897 [GRCh38]
Chr1:3319461 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.714C>A (p.Leu238=) single nucleotide variant Left ventricular noncompaction 8 [RCV000864665]|not provided [RCV001705198]|not specified [RCV000214448] Chr1:3402828 [GRCh38]
Chr1:3319392 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.3135G>A (p.Thr1045=) single nucleotide variant Left ventricular noncompaction 8 [RCV001487505]|not provided [RCV000550499]|not specified [RCV000220998] Chr1:3426076 [GRCh38]
Chr1:3342640 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1187-10G>C single nucleotide variant Left ventricular noncompaction 8 [RCV000651672]|not provided [RCV001707559]|not specified [RCV000221026] Chr1:3411374 [GRCh38]
Chr1:3327938 [GRCh37]
Chr1:1p36.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.2809_2810dup (p.Thr938fs) duplication not specified [RCV000221072] Chr1:3417941..3417942 [GRCh38]
Chr1:3334505..3334506 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.38-15C>T single nucleotide variant Left ventricular noncompaction 8 [RCV002054932]|not provided [RCV003736644]|not specified [RCV000222776] Chr1:3186110 [GRCh38]
Chr1:3102674 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3284+15G>T single nucleotide variant Left ventricular noncompaction 8 [RCV002054931]|not specified [RCV000218772] Chr1:3426240 [GRCh38]
Chr1:3342804 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.2940-15G>A single nucleotide variant Left ventricular noncompaction 8 [RCV002518188]|not specified [RCV000214743] Chr1:3425566 [GRCh38]
Chr1:3342130 [GRCh37]
Chr1:1p36.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.387+6C>T single nucleotide variant Left ventricular noncompaction 8 [RCV000464355]|not provided [RCV001812235]|not specified [RCV000216479] Chr1:3186480 [GRCh38]
Chr1:3103044 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.2506G>A (p.Gly836Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV000469328]|PRDM16-related disorder [RCV003929878]|not provided [RCV001699014]|not specified [RCV000221333] Chr1:3412703 [GRCh38]
Chr1:3329267 [GRCh37]
Chr1:1p36.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_022114.4(PRDM16):c.1363G>A (p.Gly455Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV000821989]|PRDM16-related disorder [RCV003937840]|not specified [RCV000214839] Chr1:3411560 [GRCh38]
Chr1:3328124 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.1093G>T (p.Ala365Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV000651655]|not provided [RCV001707558]|not specified [RCV000216650] Chr1:3405555 [GRCh38]
Chr1:3322119 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.38-14G>A single nucleotide variant Left ventricular noncompaction 8 [RCV002057174]|not provided [RCV001723800]|not specified [RCV000219133] Chr1:3186111 [GRCh38]
Chr1:3102675 [GRCh37]
Chr1:1p36.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.1426C>T (p.Pro476Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV000474106]|PRDM16-related disorder [RCV003929877]|not provided [RCV001705189]|not specified [RCV000221460] Chr1:3411623 [GRCh38]
Chr1:3328187 [GRCh37]
Chr1:1p36.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_022114.4(PRDM16):c.2434C>T (p.Arg812Cys) single nucleotide variant Left ventricular noncompaction 8 [RCV000820926]|not specified [RCV000221476] Chr1:3412631 [GRCh38]
Chr1:3329195 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001521977]|not specified [RCV000221571] Chr1:3412095 [GRCh38]
Chr1:3328659 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro) single nucleotide variant Left ventricular noncompaction 8 [RCV000226799]|not provided [RCV001528526]|not specified [RCV000223185] Chr1:3412665 [GRCh38]
Chr1:3329229 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.2673G>A (p.Pro891=) single nucleotide variant Left ventricular noncompaction 8 [RCV000475588]|PRDM16-related disorder [RCV003907800]|not specified [RCV000215017] Chr1:3414629 [GRCh38]
Chr1:3331193 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000228623]|not provided [RCV001529385]|not specified [RCV000215109] Chr1:3186187 [GRCh38]
Chr1:3102751 [GRCh37]
Chr1:1p36.32
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_022114.4(PRDM16):c.3369C>T (p.Asp1123=) single nucleotide variant Left ventricular noncompaction 8 [RCV000230406]|not provided [RCV001812234]|not specified [RCV000216881] Chr1:3430956 [GRCh38]
Chr1:3347520 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1578G>A (p.Pro526=) single nucleotide variant Left ventricular noncompaction 8 [RCV000470998]|not provided [RCV001722162]|not specified [RCV000219165] Chr1:3411775 [GRCh38]
Chr1:3328339 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2793C>T (p.Asn931=) single nucleotide variant Left ventricular noncompaction 8 [RCV000233639]|PRDM16-related disorder [RCV003917888]|not provided [RCV001812232]|not specified [RCV000219295] Chr1:3417929 [GRCh38]
Chr1:3334493 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.867G>A (p.Met289Ile) single nucleotide variant not specified [RCV000223395] Chr1:3402981 [GRCh38]
Chr1:3319545 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3109+10G>A single nucleotide variant Left ventricular noncompaction 8 [RCV000460045]|not provided [RCV001812233]|not specified [RCV000223403] Chr1:3425760 [GRCh38]
Chr1:3342324 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile) single nucleotide variant Left ventricular noncompaction 8 [RCV000459912]|PRDM16-related disorder [RCV003917905]|not provided [RCV001697184]|not specified [RCV000223463] Chr1:3411881 [GRCh38]
Chr1:3328445 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.2576C>T (p.Ser859Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV000468206]|not provided [RCV001697187]|not specified [RCV000215161] Chr1:3412773 [GRCh38]
Chr1:3329337 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.2091A>T (p.Ala697=) single nucleotide variant Left ventricular noncompaction 8 [RCV000470201]|not specified [RCV000215257] Chr1:3412288 [GRCh38]
Chr1:3328852 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=) single nucleotide variant Inborn genetic diseases [RCV003243018]|Left ventricular noncompaction 8 [RCV000469880]|PRDM16-related disorder [RCV003929898]|not provided [RCV001528382]|not specified [RCV000216924] Chr1:3414590 [GRCh38]
Chr1:3331154 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.1116G>A (p.Gly372=) single nucleotide variant Left ventricular noncompaction 8 [RCV000861479]|PRDM16-related disorder [RCV003955261]|not provided [RCV001722160]|not specified [RCV000219433] Chr1:3405578 [GRCh38]
Chr1:3322142 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2741T>C (p.Met914Thr) single nucleotide variant Inborn genetic diseases [RCV002518357]|Left ventricular noncompaction 8 [RCV000229654]|not provided [RCV001705285] Chr1:3417877 [GRCh38]
Chr1:3334441 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.553A>G (p.Met185Val) single nucleotide variant Left ventricular noncompaction 8 [RCV001088151]|not provided [RCV000224254] Chr1:3385266 [GRCh38]
Chr1:3301830 [GRCh37]
Chr1:1p36.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.1537G>A (p.Gly513Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV000228195]|not provided [RCV000786195]|not specified [RCV002509332] Chr1:3411734 [GRCh38]
Chr1:3328298 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3129C>T (p.Val1043=) single nucleotide variant Left ventricular noncompaction 8 [RCV001392564]|not provided [RCV000230873] Chr1:3426070 [GRCh38]
Chr1:3342634 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001088110]|PRDM16-related disorder [RCV003919978]|not provided [RCV000828659]|not specified [RCV000611940] Chr1:3412646 [GRCh38]
Chr1:3329210 [GRCh37]
Chr1:1p36.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.1719G>A (p.Ala573=) single nucleotide variant Left ventricular noncompaction 8 [RCV000225997]|not provided [RCV001723825]|not specified [RCV001699085] Chr1:3411916 [GRCh38]
Chr1:3328480 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV000232966]|PRDM16-related disorder [RCV003929997]|not provided [RCV001528391]|not specified [RCV000418666] Chr1:3412649 [GRCh38]
Chr1:3329213 [GRCh37]
Chr1:1p36.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_022114.4(PRDM16):c.1632C>T (p.Asp544=) single nucleotide variant Left ventricular noncompaction 8 [RCV000232157]|not provided [RCV001529719]|not specified [RCV000608768] Chr1:3411829 [GRCh38]
Chr1:3328393 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.2130G>A (p.Gly710=) single nucleotide variant Left ventricular noncompaction 8 [RCV000232265]|not provided [RCV001722265]|not specified [RCV000608821] Chr1:3412327 [GRCh38]
Chr1:3328891 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.3269C>T (p.Thr1090Met) single nucleotide variant Left ventricular noncompaction 8 [RCV000227583] Chr1:3426210 [GRCh38]
Chr1:3342774 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.142G>A (p.Val48Met) single nucleotide variant Inborn genetic diseases [RCV002518356]|Left ventricular noncompaction 8 [RCV000234327]|PRDM16-related disorder [RCV003947795]|not provided [RCV001697591]|not specified [RCV000430883] Chr1:3186229 [GRCh38]
Chr1:3102793 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp) single nucleotide variant Inborn genetic diseases [RCV004020875]|Left ventricular noncompaction 8 [RCV000234393]|PRDM16-related disorder [RCV003955367]|not provided [RCV001529248]|not specified [RCV000616533] Chr1:3432065 [GRCh38]
Chr1:3348629 [GRCh37]
Chr1:1p36.32
benign|likely benign|uncertain significance
NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=) single nucleotide variant Left ventricular noncompaction 8 [RCV000226908]|PRDM16-related disorder [RCV003929998]|not provided [RCV001529041]|not specified [RCV000444388] Chr1:3425743 [GRCh38]
Chr1:3342307 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.1370T>C (p.Phe457Ser) single nucleotide variant not provided [RCV000519018] Chr1:3411567 [GRCh38]
Chr1:3328131 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2339A>G (p.Lys780Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV001368081] Chr1:3412536 [GRCh38]
Chr1:3329100 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_022114.4(PRDM16):c.3106C>T (p.Pro1036Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001318097]|not provided [RCV000519928] Chr1:3425747 [GRCh38]
Chr1:3342311 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2215C>G (p.Pro739Ala) single nucleotide variant not provided [RCV000522569] Chr1:3412412 [GRCh38]
Chr1:3328976 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1 copy number loss See cases [RCV000240333] Chr1:874455..3177921 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.32(chr1:2825682-3235959)x1 copy number loss See cases [RCV000240435] Chr1:2825682..3235959 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.32(chr1:2785042-3265702)x1 copy number loss See cases [RCV000240402] Chr1:2785042..3265702 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1573dup (p.Arg525fs) duplication Left ventricular noncompaction cardiomyopathy [RCV002059067]|not provided [RCV000365162] Chr1:3411765..3411766 [GRCh38]
Chr1:3328329..3328330 [GRCh37]
Chr1:1p36.32
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454) copy number loss Chromosome 1p36 deletion syndrome [RCV003319574] Chr1:1957148..6553454 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_022114.4(PRDM16):c.197C>T (p.Ser66Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV000554012]|not provided [RCV001529606] Chr1:3186284 [GRCh38]
Chr1:3102848 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1459del (p.Glu487fs) deletion not provided [RCV000489128] Chr1:3411656 [GRCh38]
Chr1:3328220 [GRCh37]
Chr1:1p36.32
likely pathogenic
NM_022114.4(PRDM16):c.1706C>T (p.Thr569Met) single nucleotide variant Inborn genetic diseases [RCV003338613]|Left ventricular noncompaction 8 [RCV001297690]|not provided [RCV000766606]|not specified [RCV000489145] Chr1:3411903 [GRCh38]
Chr1:3328467 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2126T>C (p.Met709Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000765130]|not provided [RCV000489210] Chr1:3412323 [GRCh38]
Chr1:3328887 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3481C>G (p.Pro1161Ala) single nucleotide variant not provided [RCV003159486] Chr1:3431068 [GRCh38]
Chr1:3347632 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.353G>A (p.Arg118Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV000532976] Chr1:3186440 [GRCh38]
Chr1:3103004 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.439-41A>G single nucleotide variant not provided [RCV001547770] Chr1:3385111 [GRCh38]
Chr1:3301675 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3124G>A (p.Gly1042Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV000651656]|not provided [RCV000490016] Chr1:3426065 [GRCh38]
Chr1:3342629 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1440C>T (p.His480=) single nucleotide variant Left ventricular noncompaction 8 [RCV000550434] Chr1:3411637 [GRCh38]
Chr1:3328201 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.876C>T (p.Asn292=) single nucleotide variant Left ventricular noncompaction 8 [RCV002529405]|not specified [RCV000603572] Chr1:3402990 [GRCh38]
Chr1:3319554 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1074G>A (p.Ser358=) single nucleotide variant Left ventricular noncompaction 8 [RCV002065318]|not specified [RCV000604648] Chr1:3405536 [GRCh38]
Chr1:3322100 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1566G>T (p.Leu522Phe) single nucleotide variant Left ventricular noncompaction 8 [RCV000526217]|not specified [RCV000602794] Chr1:3411763 [GRCh38]
Chr1:3328327 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.76C>T (p.Arg26Trp) single nucleotide variant Inborn genetic diseases [RCV003243194]|Left ventricular noncompaction 8 [RCV000549245]|Primary dilated cardiomyopathy [RCV001293113]|not provided [RCV002274065] Chr1:3186163 [GRCh38]
Chr1:3102727 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1839C>T (p.Thr613=) single nucleotide variant Left ventricular noncompaction 8 [RCV002063209]|not provided [RCV000651681]|not specified [RCV000600554] Chr1:3412036 [GRCh38]
Chr1:3328600 [GRCh37]
Chr1:1p36.32
likely benign
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140) copy number loss Primary dilated cardiomyopathy [RCV000626523] Chr1:834101..6076140 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_022114.4(PRDM16):c.2058G>A (p.Thr686=) single nucleotide variant Left ventricular noncompaction 8 [RCV001522232]|not provided [RCV000651677] Chr1:3412255 [GRCh38]
Chr1:3328819 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.3283_3284+4del deletion not provided [RCV000598627] Chr1:3426222..3426227 [GRCh38]
Chr1:3342786..3342791 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1961C>T (p.Ala654Val) single nucleotide variant Left ventricular noncompaction 8 [RCV001301083]|not provided [RCV000523550] Chr1:3412158 [GRCh38]
Chr1:3328722 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.43G>A (p.Gly15Ser) single nucleotide variant not provided [RCV000523808] Chr1:3186130 [GRCh38]
Chr1:3102694 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1984G>A (p.Val662Met) single nucleotide variant Left ventricular noncompaction 8 [RCV000529750] Chr1:3412181 [GRCh38]
Chr1:3328745 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3498C>T (p.Ala1166=) single nucleotide variant Left ventricular noncompaction 8 [RCV000552422]|not provided [RCV001722515] Chr1:3431085 [GRCh38]
Chr1:3347649 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1745G>A (p.Arg582His) single nucleotide variant Inborn genetic diseases [RCV002527907]|Left ventricular noncompaction 8 [RCV000552825]|not provided [RCV000595339] Chr1:3411942 [GRCh38]
Chr1:3328506 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1033-14A>G single nucleotide variant Left ventricular noncompaction 8 [RCV003741203]|not specified [RCV000599943] Chr1:3405481 [GRCh38]
Chr1:3322045 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2814G>A (p.Thr938=) single nucleotide variant Left ventricular noncompaction 8 [RCV000862633]|not provided [RCV001722571]|not specified [RCV003994043] Chr1:3417950 [GRCh38]
Chr1:3334514 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.1325G>A (p.Arg442Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV000793035]|not specified [RCV000414577] Chr1:3411522 [GRCh38]
Chr1:3328086 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2815C>G (p.Leu939Val) single nucleotide variant Left ventricular noncompaction 8 [RCV000474992]|Microcephaly [RCV001252771]|PRDM16-related disorder [RCV003902459]|not provided [RCV001550035]|not specified [RCV000414615] Chr1:3417951 [GRCh38]
Chr1:3334515 [GRCh37]
Chr1:1p36.32
benign|likely benign|uncertain significance|no classifications from unflagged records
NM_022114.4(PRDM16):c.1482C>G (p.His494Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV000537432] Chr1:3411679 [GRCh38]
Chr1:3328243 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1819_1823delinsTTCAT (p.Val607_Asn608delinsPheIle) indel Left ventricular noncompaction 8 [RCV000541556] Chr1:3412016..3412020 [GRCh38]
Chr1:3328580..3328584 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.75C>T (p.Asn25=) single nucleotide variant Left ventricular noncompaction 8 [RCV002573188]|not provided [RCV001564730] Chr1:3186162 [GRCh38]
Chr1:3102726 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1481A>C (p.His494Pro) single nucleotide variant Left ventricular noncompaction 8 [RCV000558278] Chr1:3411678 [GRCh38]
Chr1:3328242 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.332G>A (p.Gly111Asp) single nucleotide variant Left ventricular noncompaction 8 [RCV000555918]|not provided [RCV003319377] Chr1:3186419 [GRCh38]
Chr1:3102983 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2565C>T (p.Tyr855=) single nucleotide variant Left ventricular noncompaction 8 [RCV000535922] Chr1:3412762 [GRCh38]
Chr1:3329326 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2780A>C (p.His927Pro) single nucleotide variant Left ventricular noncompaction 8 [RCV002521441]|not specified [RCV000413206] Chr1:3417916 [GRCh38]
Chr1:3334480 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2953G>A (p.Asp985Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV000537999]|not provided [RCV001529591]|not specified [RCV000413640] Chr1:3425594 [GRCh38]
Chr1:3342158 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.936C>T (p.Asp312=) single nucleotide variant Left ventricular noncompaction 8 [RCV001460789] Chr1:3404790 [GRCh38]
Chr1:3321354 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1709C>T (p.Thr570Met) single nucleotide variant Left ventricular noncompaction 8 [RCV000526833]|not provided [RCV001722514]|not specified [RCV000600375] Chr1:3411906 [GRCh38]
Chr1:3328470 [GRCh37]
Chr1:1p36.32
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 1p36.33-36.32(chr1:849466-3396845)x3 copy number gain See cases [RCV000449132] Chr1:849466..3396845 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.32(chr1:2628157-3202884)x3 copy number gain See cases [RCV000449286] Chr1:2628157..3202884 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.32-36.22(chr1:2817420-10670878)x1 copy number loss See cases [RCV000449468] Chr1:2817420..10670878 [GRCh37]
Chr1:1p36.32-36.22
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1 copy number loss See cases [RCV000449148] Chr1:849466..6566086 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5318552)x1 copy number loss See cases [RCV000449322] Chr1:849466..5318552 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1 copy number loss See cases [RCV000446331] Chr1:849466..9683808 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3 copy number gain See cases [RCV000447000] Chr1:19225..4401691 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.32(chr1:2628037-3544272)x3 copy number gain See cases [RCV000447500] Chr1:2628037..3544272 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4099471)x1 copy number loss See cases [RCV000446544] Chr1:849466..4099471 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
GRCh37/hg19 1p36.32-36.31(chr1:2609223-2631378)x3 copy number gain See cases [RCV000447158] Chr1:2609223..2631378 [GRCh37]
Chr1:1p36.32-36.31
benign
GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1 copy number loss See cases [RCV000447515] Chr1:564424..3582058 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_022114.4(PRDM16):c.1965C>A (p.Pro655=) single nucleotide variant not specified [RCV000441266] Chr1:3412162 [GRCh38]
Chr1:3328726 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.488C>T (p.Ala163Val) single nucleotide variant Left ventricular noncompaction 8 [RCV000535819]|not specified [RCV000444937] Chr1:3385201 [GRCh38]
Chr1:3301765 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.827del (p.Gly276fs) deletion not provided [RCV000442803] Chr1:3402940 [GRCh38]
Chr1:3319504 [GRCh37]
Chr1:1p36.32
pathogenic
NM_022114.4(PRDM16):c.1930G>A (p.Glu644Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV002522684]|not provided [RCV000431315] Chr1:3412127 [GRCh38]
Chr1:3328691 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2940-17G>A single nucleotide variant Left ventricular noncompaction 8 [RCV002059644]|not provided [RCV001810930]|not specified [RCV000441639] Chr1:3425564 [GRCh38]
Chr1:3342128 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.2172G>A (p.Ala724=) single nucleotide variant Left ventricular noncompaction 8 [RCV000546769]|PRDM16-related disorder [RCV003932679]|not provided [RCV001721434] Chr1:3412369 [GRCh38]
Chr1:3328933 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2448C>T (p.Asn816=) single nucleotide variant Left ventricular noncompaction 8 [RCV000471531]|not provided [RCV001528878]|not specified [RCV000421212] Chr1:3412645 [GRCh38]
Chr1:3329209 [GRCh37]
Chr1:1p36.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_022114.4(PRDM16):c.2406G>A (p.Pro802=) single nucleotide variant Left ventricular noncompaction 8 [RCV000861523]|PRDM16-related disorder [RCV003959984]|not provided [RCV001712293]|not specified [RCV000438891] Chr1:3412603 [GRCh38]
Chr1:3329167 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.885-5C>T single nucleotide variant Left ventricular noncompaction 8 [RCV001505740]|not specified [RCV000431911] Chr1:3404734 [GRCh38]
Chr1:3321298 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3696+11G>A single nucleotide variant Left ventricular noncompaction 8 [RCV002063527]|not specified [RCV000438994] Chr1:3432151 [GRCh38]
Chr1:3348715 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.21G>A (p.Ala7=) single nucleotide variant Left ventricular noncompaction 8 [RCV001400533]|not provided [RCV000867300] Chr1:3069280 [GRCh38]
Chr1:2985844 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2940-18C>T single nucleotide variant Left ventricular noncompaction 8 [RCV002063635]|not specified [RCV000419766] Chr1:3425563 [GRCh38]
Chr1:3342127 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.347T>C (p.Val116Ala) single nucleotide variant not provided [RCV000426483] Chr1:3186434 [GRCh38]
Chr1:3102998 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2691+5G>A single nucleotide variant Left ventricular noncompaction 8 [RCV001066225]|not specified [RCV000437038] Chr1:3414652 [GRCh38]
Chr1:3331216 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.*2G>A single nucleotide variant not specified [RCV000440648] Chr1:3433813 [GRCh38]
Chr1:3350377 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1797G>A (p.Ser599=) single nucleotide variant Left ventricular noncompaction 8 [RCV000533381]|PRDM16-related disorder [RCV003942449]|not provided [RCV000440662]|not specified [RCV003330680] Chr1:3411994 [GRCh38]
Chr1:3328558 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.677-16G>A single nucleotide variant Left ventricular noncompaction 8 [RCV002064972]|not specified [RCV000420246] Chr1:3402775 [GRCh38]
Chr1:3319339 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.2603+20C>T single nucleotide variant Left ventricular noncompaction 8 [RCV002062403]|not specified [RCV000433986] Chr1:3412820 [GRCh38]
Chr1:3329384 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.2692-10A>G single nucleotide variant Left ventricular noncompaction 8 [RCV000457891]|not provided [RCV001704514] Chr1:3417818 [GRCh38]
Chr1:3334382 [GRCh37]
Chr1:1p36.32
benign|likely benign
GRCh37/hg19 1p36.33-36.31(chr1:849466-5707515)x1 copy number loss See cases [RCV000448903] Chr1:849466..5707515 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1 copy number loss See cases [RCV000448061] Chr1:849466..7300178 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
NM_022114.4(PRDM16):c.1962G>A (p.Ala654=) single nucleotide variant Left ventricular noncompaction 8 [RCV001402720]|not provided [RCV000458957] Chr1:3412159 [GRCh38]
Chr1:3328723 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3454G>A (p.Ala1152Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000473925] Chr1:3431041 [GRCh38]
Chr1:3347605 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1 copy number loss See cases [RCV000512052] Chr1:849466..6374209 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_022114.4(PRDM16):c.1393C>G (p.Pro465Ala) single nucleotide variant Inborn genetic diseases [RCV003168767]|Left ventricular noncompaction 8 [RCV000459138]|not provided [RCV001556975] Chr1:3411590 [GRCh38]
Chr1:3328154 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.439-4G>T single nucleotide variant Left ventricular noncompaction 8 [RCV001505339] Chr1:3385148 [GRCh38]
Chr1:3301712 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1033-8C>T single nucleotide variant Left ventricular noncompaction 8 [RCV001497504] Chr1:3405487 [GRCh38]
Chr1:3322051 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2467C>T (p.Arg823Cys) single nucleotide variant Left ventricular noncompaction 8 [RCV000471354] Chr1:3412664 [GRCh38]
Chr1:3329228 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1599G>A (p.Ser533=) single nucleotide variant Left ventricular noncompaction 8 [RCV000471293]|not specified [RCV000615133] Chr1:3411796 [GRCh38]
Chr1:3328360 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.3442G>A (p.Glu1148Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV000460254]|not provided [RCV001591078] Chr1:3431029 [GRCh38]
Chr1:3347593 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2646G>A (p.Leu882=) single nucleotide variant Left ventricular noncompaction 8 [RCV001488818] Chr1:3414602 [GRCh38]
Chr1:3331166 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3366CGA[3] (p.Asp1125dup) microsatellite Left ventricular noncompaction 8 [RCV000475206]|not specified [RCV000609350] Chr1:3430950..3430951 [GRCh38]
Chr1:3347514..3347515 [GRCh37]
Chr1:1p36.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_022114.4(PRDM16):c.101C>T (p.Ala34Val) single nucleotide variant Left ventricular noncompaction 8 [RCV000456657]|not provided [RCV003151774] Chr1:3186188 [GRCh38]
Chr1:3102752 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3750C>T (p.Ser1250=) single nucleotide variant Inborn genetic diseases [RCV004022939]|Left ventricular noncompaction 8 [RCV000456779] Chr1:3433730 [GRCh38]
Chr1:3350294 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2813C>T (p.Thr938Met) single nucleotide variant Left ventricular noncompaction 8 [RCV000471782]|not provided [RCV001548015] Chr1:3417949 [GRCh38]
Chr1:3334513 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1485G>A (p.Pro495=) single nucleotide variant Left ventricular noncompaction 8 [RCV000464362]|not provided [RCV001569810] Chr1:3411682 [GRCh38]
Chr1:3328246 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.3444G>A (p.Glu1148=) single nucleotide variant Left ventricular noncompaction 8 [RCV001393487] Chr1:3431031 [GRCh38]
Chr1:3347595 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2809C>G (p.Pro937Ala) single nucleotide variant Inborn genetic diseases [RCV004022597]|Left ventricular noncompaction 8 [RCV000475724]|PRDM16-related disorder [RCV003925313]|not provided [RCV001591079] Chr1:3417945 [GRCh38]
Chr1:3334509 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.481A>G (p.Asn161Asp) single nucleotide variant Inborn genetic diseases [RCV003298479]|Left ventricular noncompaction 8 [RCV000475755]|not provided [RCV001704554]|not specified [RCV000603087] Chr1:3385194 [GRCh38]
Chr1:3301758 [GRCh37]
Chr1:1p36.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.2037C>T (p.Asp679=) single nucleotide variant Left ventricular noncompaction 8 [RCV001088689]|not provided [RCV000842281] Chr1:3412234 [GRCh38]
Chr1:3328798 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2443C>T (p.Gln815Ter) single nucleotide variant Left ventricular noncompaction 8 [RCV000468700] Chr1:3412640 [GRCh38]
Chr1:3329204 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.146G>A (p.Gly49Glu) single nucleotide variant not provided [RCV000486085] Chr1:3186233 [GRCh38]
Chr1:3102797 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2281G>A (p.Ala761Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000461410]|not provided [RCV001563200] Chr1:3412478 [GRCh38]
Chr1:3329042 [GRCh37]
Chr1:1p36.32
conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.2536C>T (p.Arg846Trp) single nucleotide variant Left ventricular noncompaction 8 [RCV000476374] Chr1:3412733 [GRCh38]
Chr1:3329297 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3139C>A (p.His1047Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV001212902]|not provided [RCV000486279] Chr1:3426080 [GRCh38]
Chr1:3342644 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.885-4G>A single nucleotide variant Left ventricular noncompaction 8 [RCV001081383]|PRDM16-related disorder [RCV003915288]|not provided [RCV000457740]|not specified [RCV001700121] Chr1:3404735 [GRCh38]
Chr1:3321299 [GRCh37]
Chr1:1p36.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.574-20_574-17del microsatellite Left ventricular noncompaction 8 [RCV002063809]|not provided [RCV001726191]|not specified [RCV000482222] Chr1:3396468..3396471 [GRCh38]
Chr1:3313032..3313035 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.884+39_884+69del deletion not specified [RCV000213382] Chr1:3403007..3403037 [GRCh38]
Chr1:3319571..3319601 [GRCh37]
Chr1:1p36.32
benign|uncertain significance
NM_022114.4(PRDM16):c.200C>T (p.Pro67Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV000469281] Chr1:3186287 [GRCh38]
Chr1:3102851 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2386G>A (p.Ala796Thr) single nucleotide variant Inborn genetic diseases [RCV002526969]|Left ventricular noncompaction 8 [RCV001049686]|not provided [RCV000478115] Chr1:3412583 [GRCh38]
Chr1:3329147 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2142G>A (p.Lys714=) single nucleotide variant Left ventricular noncompaction 8 [RCV000462221]|PRDM16-related disorder [RCV003899958]|not provided [RCV001696882]|not specified [RCV000610252] Chr1:3412339 [GRCh38]
Chr1:3328903 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.1972G>C (p.Ala658Pro) single nucleotide variant Left ventricular noncompaction 8 [RCV000462349] Chr1:3412169 [GRCh38]
Chr1:3328733 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1033-10G>A single nucleotide variant Left ventricular noncompaction 8 [RCV000466116]|not provided [RCV001529217] Chr1:3405485 [GRCh38]
Chr1:3322049 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1882G>A (p.Asp628Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV000466162]|not provided [RCV001584143]|not specified [RCV003488605] Chr1:3412079 [GRCh38]
Chr1:3328643 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.573+9G>A single nucleotide variant Left ventricular noncompaction 8 [RCV000473521] Chr1:3385295 [GRCh38]
Chr1:3301859 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3270G>A (p.Thr1090=) single nucleotide variant Left ventricular noncompaction 8 [RCV001080270]|not provided [RCV000458810] Chr1:3426211 [GRCh38]
Chr1:3342775 [GRCh37]
Chr1:1p36.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.2379G>A (p.Ser793=) single nucleotide variant Left ventricular noncompaction 8 [RCV001087943]|not provided [RCV000839811]|not specified [RCV001700122] Chr1:3412576 [GRCh38]
Chr1:3329140 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1545G>A (p.Pro515=) single nucleotide variant Left ventricular noncompaction 8 [RCV000477564] Chr1:3411742 [GRCh38]
Chr1:3328306 [GRCh37]
Chr1:1p36.32
likely benign
GRCh37/hg19 1p36.33-36.32(chr1:849466-4048535)x1 copy number loss See cases [RCV000510640] Chr1:849466..4048535 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1 copy number loss See cases [RCV000510212] Chr1:2793822..7510850 [GRCh37]
Chr1:1p36.32-36.23
pathogenic
NM_022114.4(PRDM16):c.1328G>A (p.Arg443His) single nucleotide variant not provided [RCV000497461] Chr1:3411525 [GRCh38]
Chr1:3328089 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2635G>A (p.Val879Met) single nucleotide variant Left ventricular noncompaction 8 [RCV000823144]|not provided [RCV000498032] Chr1:3414591 [GRCh38]
Chr1:3331155 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1850C>T (p.Thr617Met) single nucleotide variant Inborn genetic diseases [RCV004023341]|Left ventricular noncompaction 8 [RCV001851380]|not provided [RCV000498119] Chr1:3412047 [GRCh38]
Chr1:3328611 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_022114.4(PRDM16):c.403G>A (p.Val135Met) single nucleotide variant Left ventricular noncompaction 8 [RCV000800420]|not provided [RCV000498621] Chr1:3244102 [GRCh38]
Chr1:3160666 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1 copy number loss See cases [RCV000510494] Chr1:849466..6505278 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_022114.4(PRDM16):c.666C>T (p.Pro222=) single nucleotide variant Left ventricular noncompaction 8 [RCV001392138]|not specified [RCV000488452] Chr1:3396583 [GRCh38]
Chr1:3313147 [GRCh37]
Chr1:1p36.32
likely pathogenic|likely benign
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1 copy number loss See cases [RCV000511381] Chr1:849466..7637060 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
NM_022114.4(PRDM16):c.1726G>A (p.Glu576Lys) single nucleotide variant Inborn genetic diseases [RCV004023310]|Left ventricular noncompaction 8 [RCV001082350]|not provided [RCV000494613] Chr1:3411923 [GRCh38]
Chr1:3328487 [GRCh37]
Chr1:1p36.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1415800-5007235)x1 copy number loss See cases [RCV000511946] Chr1:1415800..5007235 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_022114.4(PRDM16):c.2509G>A (p.Glu837Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV000697800] Chr1:3412706 [GRCh38]
Chr1:3329270 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.32(chr1:2713327-3208375)x3 copy number gain See cases [RCV000515597] Chr1:2713327..3208375 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.32(chr1:2619887-3235416)x3 copy number gain See cases [RCV000511215] Chr1:2619887..3235416 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_022114.4(PRDM16):c.706G>A (p.Asp236Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV000864128]|PRDM16-related disorder [RCV003905498]|Wolff-Parkinson-White pattern [RCV000656141]|not provided [RCV001584393] Chr1:3402820 [GRCh38]
Chr1:3319384 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.252C>T (p.Phe84=) single nucleotide variant Left ventricular noncompaction 8 [RCV000862768]|not provided [RCV001697396]|not specified [RCV000603107] Chr1:3186339 [GRCh38]
Chr1:3102903 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2391C>T (p.Ser797=) single nucleotide variant Left ventricular noncompaction 8 [RCV000535299]|not provided [RCV001697381] Chr1:3412588 [GRCh38]
Chr1:3329152 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.2691+12G>T single nucleotide variant Left ventricular noncompaction 8 [RCV002063164]|not specified [RCV000605732] Chr1:3414659 [GRCh38]
Chr1:3331223 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.114C>T (p.Ala38=) single nucleotide variant Left ventricular noncompaction 8 [RCV003581695]|not specified [RCV000605104] Chr1:3186201 [GRCh38]
Chr1:3102765 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3110-13C>T single nucleotide variant Left ventricular noncompaction 8 [RCV002062968]|not provided [RCV001697355] Chr1:3426038 [GRCh38]
Chr1:3342602 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.777G>A (p.Ala259=) single nucleotide variant Left ventricular noncompaction 8 [RCV000866967]|PRDM16-related disorder [RCV003917919]|not provided [RCV003736846]|not specified [RCV000600252] Chr1:3402891 [GRCh38]
Chr1:3319455 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3405C>T (p.Ala1135=) single nucleotide variant Left ventricular noncompaction 8 [RCV000866957]|not provided [RCV003411451]|not specified [RCV000600348] Chr1:3430992 [GRCh38]
Chr1:3347556 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.108C>T (p.Asp36=) single nucleotide variant Left ventricular noncompaction 8 [RCV001419309]|not specified [RCV000605963] Chr1:3186195 [GRCh38]
Chr1:3102759 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2539A>T (p.Met847Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV000559879]|not provided [RCV001700153]|not specified [RCV003230541] Chr1:3412736 [GRCh38]
Chr1:3329300 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.3190C>T (p.Leu1064Phe) single nucleotide variant Inborn genetic diseases [RCV003282690] Chr1:3426131 [GRCh38]
Chr1:3342695 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3109+9C>T single nucleotide variant Left ventricular noncompaction 8 [RCV002062123]|not specified [RCV000603280] Chr1:3425759 [GRCh38]
Chr1:3342323 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2468G>A (p.Arg823His) single nucleotide variant Left ventricular noncompaction 8 [RCV000869971]|not specified [RCV000603381] Chr1:3412665 [GRCh38]
Chr1:3329229 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.2391C>A (p.Ser797=) single nucleotide variant Left ventricular noncompaction 8 [RCV000869999]|not specified [RCV000602011] Chr1:3412588 [GRCh38]
Chr1:3329152 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1642C>A (p.Pro548Thr) single nucleotide variant Wolff-Parkinson-White pattern [RCV000656215] Chr1:3411839 [GRCh38]
Chr1:3328403 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1032+14C>T single nucleotide variant not specified [RCV000609468] Chr1:3404900 [GRCh38]
Chr1:3321464 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.573+17A>G single nucleotide variant Left ventricular noncompaction 8 [RCV002063865]|not specified [RCV000614919] Chr1:3385303 [GRCh38]
Chr1:3301867 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.2106G>A (p.Lys702=) single nucleotide variant Left ventricular noncompaction 8 [RCV001401447]|not specified [RCV000615168] Chr1:3412303 [GRCh38]
Chr1:3328867 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2187C>G (p.Phe729Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV000559473]|not provided [RCV003409820] Chr1:3412384 [GRCh38]
Chr1:3328948 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3286G>A (p.Ala1096Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000651650]|not provided [RCV003225109] Chr1:3430873 [GRCh38]
Chr1:3347437 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.625C>T (p.His209Tyr) single nucleotide variant Left ventricular noncompaction 8 [RCV000651652]|not provided [RCV001766412] Chr1:3396542 [GRCh38]
Chr1:3313106 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.904A>G (p.Ile302Val) single nucleotide variant Left ventricular noncompaction 8 [RCV000651653] Chr1:3404758 [GRCh38]
Chr1:3321322 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1780A>G (p.Arg594Gly) single nucleotide variant Left ventricular noncompaction 8 [RCV000651654] Chr1:3411977 [GRCh38]
Chr1:3328541 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3354GGA[3] (p.Glu1121del) microsatellite Left ventricular noncompaction 8 [RCV000651657] Chr1:3430941..3430943 [GRCh38]
Chr1:3347505..3347507 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3199G>A (p.Glu1067Lys) single nucleotide variant Inborn genetic diseases [RCV002530544]|Left ventricular noncompaction 8 [RCV000651658]|PRDM16-related disorder [RCV003905765] Chr1:3426140 [GRCh38]
Chr1:3342704 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.1951G>A (p.Gly651Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV000651659] Chr1:3412148 [GRCh38]
Chr1:3328712 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.793G>T (p.Ala265Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV000651660] Chr1:3402907 [GRCh38]
Chr1:3319471 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3281A>G (p.Lys1094Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV000651661]|not provided [RCV001701146] Chr1:3426222 [GRCh38]
Chr1:3342786 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2068G>A (p.Gly690Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV000651662]|not provided [RCV001771903] Chr1:3412265 [GRCh38]
Chr1:3328829 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3385G>T (p.Asp1129Tyr) single nucleotide variant Inborn genetic diseases [RCV002531983]|Left ventricular noncompaction 8 [RCV000651663] Chr1:3430972 [GRCh38]
Chr1:3347536 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3748T>A (p.Ser1250Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000651664] Chr1:3433728 [GRCh38]
Chr1:3350292 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.811G>A (p.Glu271Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV000651665] Chr1:3402925 [GRCh38]
Chr1:3319489 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.919C>T (p.Arg307Cys) single nucleotide variant Left ventricular noncompaction 8 [RCV000651666] Chr1:3404773 [GRCh38]
Chr1:3321337 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2855C>A (p.Thr952Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV000651667]|not provided [RCV001529601] Chr1:3417991 [GRCh38]
Chr1:3334555 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3110-7T>C single nucleotide variant Left ventricular noncompaction 8 [RCV000651669] Chr1:3426044 [GRCh38]
Chr1:3342608 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2797C>T (p.Arg933Trp) single nucleotide variant Left ventricular noncompaction 8 [RCV000651670]|not provided [RCV001558596] Chr1:3417933 [GRCh38]
Chr1:3334497 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.843C>T (p.His281=) single nucleotide variant Left ventricular noncompaction 8 [RCV000651671]|not provided [RCV001724117]|not specified [RCV001700290] Chr1:3402957 [GRCh38]
Chr1:3319521 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.360G>A (p.Ala120=) single nucleotide variant Left ventricular noncompaction 8 [RCV000651674] Chr1:3186447 [GRCh38]
Chr1:3103011 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2603+6C>T single nucleotide variant Left ventricular noncompaction 8 [RCV000651675]|PRDM16-related disorder [RCV003945658]|not provided [RCV001592821]|not specified [RCV001701147] Chr1:3412806 [GRCh38]
Chr1:3329370 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.1995G>A (p.Val665=) single nucleotide variant Left ventricular noncompaction 8 [RCV000651676] Chr1:3412192 [GRCh38]
Chr1:3328756 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3144G>T (p.Leu1048=) single nucleotide variant Left ventricular noncompaction 8 [RCV000651678] Chr1:3426085 [GRCh38]
Chr1:3342649 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2394C>T (p.Gly798=) single nucleotide variant Left ventricular noncompaction 8 [RCV000651679] Chr1:3412591 [GRCh38]
Chr1:3329155 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1187-8T>C single nucleotide variant Left ventricular noncompaction 8 [RCV000651680] Chr1:3411376 [GRCh38]
Chr1:3327940 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3570G>A (p.Pro1190=) single nucleotide variant Left ventricular noncompaction 8 [RCV000651683]|not provided [RCV001729674] Chr1:3432014 [GRCh38]
Chr1:3348578 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.413C>T (p.Ser138Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001860246]|not provided [RCV001565514]|not specified [RCV000605675] Chr1:3244112 [GRCh38]
Chr1:3160676 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2505C>T (p.Ala835=) single nucleotide variant Left ventricular noncompaction 8 [RCV002063884]|not provided [RCV001712634] Chr1:3412702 [GRCh38]
Chr1:3329266 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.801G>A (p.Glu267=) single nucleotide variant Left ventricular noncompaction 8 [RCV000868906]|not provided [RCV001726260]|not specified [RCV000609766] Chr1:3402915 [GRCh38]
Chr1:3319479 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.171C>T (p.Ser57=) single nucleotide variant Left ventricular noncompaction 8 [RCV000872185]|not provided [RCV001358181]|not specified [RCV000615382] Chr1:3186258 [GRCh38]
Chr1:3102822 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.1674G>A (p.Leu558=) single nucleotide variant Left ventricular noncompaction 8 [RCV001868073]|not provided [RCV001698484] Chr1:3411871 [GRCh38]
Chr1:3328435 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.471C>T (p.Cys157=) single nucleotide variant Left ventricular noncompaction 8 [RCV000862884]|not provided [RCV001697477] Chr1:3385184 [GRCh38]
Chr1:3301748 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1188T>C (p.Cys396=) single nucleotide variant Left ventricular noncompaction 8 [RCV000537653]|PRDM16-related disorder [RCV003925692]|not provided [RCV001727756]|not specified [RCV000610214] Chr1:3411385 [GRCh38]
Chr1:3327949 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.1354A>C (p.Thr452Pro) single nucleotide variant Inborn genetic diseases [RCV003255773] Chr1:3411551 [GRCh38]
Chr1:3328115 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1356G>A (p.Thr452=) single nucleotide variant Left ventricular noncompaction 8 [RCV001477642]|not provided [RCV001722583] Chr1:3411553 [GRCh38]
Chr1:3328117 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2820C>T (p.Ser940=) single nucleotide variant Left ventricular noncompaction 8 [RCV003581688]|not specified [RCV000610217] Chr1:3417956 [GRCh38]
Chr1:3334520 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1893C>T (p.Ser631=) single nucleotide variant Left ventricular noncompaction 8 [RCV000869337]|not specified [RCV000616402] Chr1:3412090 [GRCh38]
Chr1:3328654 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.615G>A (p.Glu205=) single nucleotide variant Left ventricular noncompaction 8 [RCV001412099]|not provided [RCV000869589] Chr1:3396532 [GRCh38]
Chr1:3313096 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2940-16C>T single nucleotide variant Left ventricular noncompaction 8 [RCV002531711]|not specified [RCV000616507] Chr1:3425565 [GRCh38]
Chr1:3342129 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1815G>A (p.Glu605=) single nucleotide variant Left ventricular noncompaction 8 [RCV002529415]|not provided [RCV001722584] Chr1:3412012 [GRCh38]
Chr1:3328576 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2118C>T (p.Pro706=) single nucleotide variant Left ventricular noncompaction 8 [RCV002064073]|not specified [RCV000610673] Chr1:3412315 [GRCh38]
Chr1:3328879 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1033-17G>T single nucleotide variant Left ventricular noncompaction 8 [RCV002063944]|not specified [RCV000613412] Chr1:3405478 [GRCh38]
Chr1:3322042 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1651C>T (p.Leu551=) single nucleotide variant Left ventricular noncompaction 8 [RCV000538631] Chr1:3411848 [GRCh38]
Chr1:3328412 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2556G>A (p.Pro852=) single nucleotide variant Left ventricular noncompaction 8 [RCV001403621]|not provided [RCV000651668] Chr1:3412753 [GRCh38]
Chr1:3329317 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3696+10C>T single nucleotide variant Left ventricular noncompaction 8 [RCV001416103]|not provided [RCV001718926] Chr1:3432150 [GRCh38]
Chr1:3348714 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.102G>A (p.Ala34=) single nucleotide variant Left ventricular noncompaction 8 [RCV000557090]|not provided [RCV001580517]|not specified [RCV000614521] Chr1:3186189 [GRCh38]
Chr1:3102753 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.884+7C>T single nucleotide variant Left ventricular noncompaction 8 [RCV000866237]|not provided [RCV001724081]|not specified [RCV000613789] Chr1:3403005 [GRCh38]
Chr1:3319569 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3675G>C (p.Leu1225=) single nucleotide variant Left ventricular noncompaction 8 [RCV000557573]|not specified [RCV000616250] Chr1:3432119 [GRCh38]
Chr1:3348683 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3177G>A (p.Ser1059=) single nucleotide variant Left ventricular noncompaction 8 [RCV000539215] Chr1:3426118 [GRCh38]
Chr1:3342682 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3451G>A (p.Ala1151Thr) single nucleotide variant Inborn genetic diseases [RCV003241265] Chr1:3431038 [GRCh38]
Chr1:3347602 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2666C>T (p.Pro889Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV000686322]|Wolff-Parkinson-White pattern [RCV000656180]|not provided [RCV001570893]|not specified [RCV003488706] Chr1:3414622 [GRCh38]
Chr1:3331186 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3154G>A (p.Ala1052Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000861447]|Primary dilated cardiomyopathy [RCV001293179]|not provided [RCV001701098] Chr1:3426095 [GRCh38]
Chr1:3342659 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1737C>T (p.Phe579=) single nucleotide variant Left ventricular noncompaction 8 [RCV000539562] Chr1:3411934 [GRCh38]
Chr1:3328498 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1517C>T (p.Thr506Met) single nucleotide variant Left ventricular noncompaction 8 [RCV002532741]|not specified [RCV000611633] Chr1:3411714 [GRCh38]
Chr1:3328278 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.*14C>T single nucleotide variant not specified [RCV000614548] Chr1:3433825 [GRCh38]
Chr1:3350389 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3375_3392del (p.Asp1125_Asp1130del) deletion Left ventricular noncompaction 8 [RCV000540143] Chr1:3430954..3430971 [GRCh38]
Chr1:3347518..3347535 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1788C>T (p.Ser596=) single nucleotide variant Left ventricular noncompaction 8 [RCV001452162]|not provided [RCV001718978] Chr1:3411985 [GRCh38]
Chr1:3328549 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2296G>A (p.Gly766Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV000558931]|Primary familial hypertrophic cardiomyopathy [RCV000853158]|not provided [RCV001697380]|not specified [RCV000612968] Chr1:3412493 [GRCh38]
Chr1:3329057 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.2154G>A (p.Ser718=) single nucleotide variant Inborn genetic diseases [RCV003278950]|Left ventricular noncompaction 8 [RCV001468769]|not specified [RCV000601953] Chr1:3412351 [GRCh38]
Chr1:3328915 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1953C>A (p.Gly651=) single nucleotide variant Left ventricular noncompaction 8 [RCV002529661]|not provided [RCV001712635] Chr1:3412150 [GRCh38]
Chr1:3328714 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3821A>G (p.Asn1274Ser) single nucleotide variant not specified [RCV000604520] Chr1:3433801 [GRCh38]
Chr1:3350365 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1536C>T (p.Pro512=) single nucleotide variant not specified [RCV000604693] Chr1:3411733 [GRCh38]
Chr1:3328297 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.676+17A>G single nucleotide variant not specified [RCV000602337] Chr1:3396610 [GRCh38]
Chr1:3313174 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.912G>A (p.Thr304=) single nucleotide variant Left ventricular noncompaction 8 [RCV001868045]|not specified [RCV000600898] Chr1:3404766 [GRCh38]
Chr1:3321330 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1 copy number loss See cases [RCV000512568] Chr1:849466..8901938 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
NM_022114.4(PRDM16):c.-17T>C single nucleotide variant not specified [RCV000601087] Chr1:3069243 [GRCh38]
Chr1:2985807 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1989del (p.Glu664fs) deletion not provided [RCV000627596] Chr1:3412185 [GRCh38]
Chr1:3328749 [GRCh37]
Chr1:1p36.32
likely pathogenic
NM_022114.4(PRDM16):c.2855C>T (p.Thr952Met) single nucleotide variant Left ventricular noncompaction 8 [RCV001853829]|Wolff-Parkinson-White pattern [RCV000656157] Chr1:3417991 [GRCh38]
Chr1:3334555 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1 copy number loss See cases [RCV000512243] Chr1:849466..5352492 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_022114.4(PRDM16):c.2798G>A (p.Arg933Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV000698571] Chr1:3417934 [GRCh38]
Chr1:3334498 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3352G>A (p.Val1118Met) single nucleotide variant Left ventricular noncompaction 8 [RCV000699648]|Primary dilated cardiomyopathy [RCV001281476]|not provided [RCV000658373] Chr1:3430939 [GRCh38]
Chr1:3347503 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3293T>C (p.Met1098Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV002534272]|not provided [RCV000658153] Chr1:3430880 [GRCh38]
Chr1:3347444 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.481A>T (p.Asn161Tyr) single nucleotide variant Inborn genetic diseases [RCV002544733]|Left ventricular noncompaction 8 [RCV000685955] Chr1:3385194 [GRCh38]
Chr1:3301758 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1 copy number loss not provided [RCV000684533] Chr1:849466..4262915 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1 copy number loss not provided [RCV000684534] Chr1:849466..7305595 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:2190850-3503606)x1 copy number loss not provided [RCV000684537] Chr1:2190850..3503606 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.32(chr1:2419098-3222541)x3 copy number gain not provided [RCV000684539] Chr1:2419098..3222541 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.32(chr1:2621576-3202884)x3 copy number gain not provided [RCV000684540] Chr1:2621576..3202884 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.32(chr1:2740166-3647525)x3 copy number gain not provided [RCV000684541] Chr1:2740166..3647525 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.109G>A (p.Glu37Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV000698747]|not provided [RCV001566297] Chr1:3186196 [GRCh38]
Chr1:3102760 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.658G>T (p.Val220Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV000690108]|not specified [RCV003323689] Chr1:3396575 [GRCh38]
Chr1:3313139 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.51_53del (p.Val18del) deletion Left ventricular noncompaction 8 [RCV000690139] Chr1:3186136..3186138 [GRCh38]
Chr1:3102700..3102702 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2809C>A (p.Pro937Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000695212] Chr1:3417945 [GRCh38]
Chr1:3334509 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.451C>G (p.Leu151Val) single nucleotide variant Inborn genetic diseases [RCV002533728]|Left ventricular noncompaction 8 [RCV000705079] Chr1:3385164 [GRCh38]
Chr1:3301728 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.3627_3629del (p.Lys1209_Asp1210delinsAsn) deletion Left ventricular noncompaction 8 [RCV000705236] Chr1:3432070..3432072 [GRCh38]
Chr1:3348634..3348636 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.778C>G (p.Leu260Val) single nucleotide variant Left ventricular noncompaction 8 [RCV000702959]|not provided [RCV001556567] Chr1:3402892 [GRCh38]
Chr1:3319456 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3357G>C (p.Glu1119Asp) single nucleotide variant Left ventricular noncompaction 8 [RCV000684944]|not specified [RCV003403582] Chr1:3430944 [GRCh38]
Chr1:3347508 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1901ACAAGG[1] (p.634DK[1]) microsatellite Left ventricular noncompaction 8 [RCV000699308]|not provided [RCV002285402] Chr1:3412097..3412102 [GRCh38]
Chr1:3328661..3328666 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.11:g.(?_3385132)_(3433831_?)del deletion Left ventricular noncompaction 8 [RCV000708146] Chr1:3385132..3433831 [GRCh38]
Chr1:3301696..3350395 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3366C>G (p.Asp1122Glu) single nucleotide variant Left ventricular noncompaction 8 [RCV000687620] Chr1:3430953 [GRCh38]
Chr1:3347517 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2228_2229inv (p.Arg743Leu) inversion Left ventricular noncompaction 8 [RCV000695302] Chr1:3412425..3412426 [GRCh38]
Chr1:3328989..3328990 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.340G>A (p.Val114Met) single nucleotide variant Left ventricular noncompaction 8 [RCV000690421] Chr1:3186427 [GRCh38]
Chr1:3102991 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.640G>A (p.Val214Ile) single nucleotide variant Inborn genetic diseases [RCV002534426]|Left ventricular noncompaction 8 [RCV000704671] Chr1:3396557 [GRCh38]
Chr1:3313121 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.863G>A (p.Arg288Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV000707361]|not provided [RCV002222611] Chr1:3402977 [GRCh38]
Chr1:3319541 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1789G>A (p.Asp597Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV000695870] Chr1:3411986 [GRCh38]
Chr1:3328550 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.844G>A (p.Glu282Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV000703694] Chr1:3402958 [GRCh38]
Chr1:3319522 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.38-315C>T single nucleotide variant not provided [RCV001566376] Chr1:3185810 [GRCh38]
Chr1:3102374 [GRCh37]
Chr1:1p36.32
likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_022114.4(PRDM16):c.439-11715_439-4716del deletion Cerebellar dysfunction with variable cognitive and behavioral abnormalities [RCV000735902] Chr1:3373435..3380434 [GRCh38]
Chr1:3289999..3296998 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1 copy number loss not provided [RCV000736294] Chr1:47851..6659872 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:82154-3340855)x1 copy number loss not provided [RCV000736303] Chr1:82154..3340855 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1 copy number loss not provided [RCV000736304] Chr1:82154..7936272 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:977062-5179574)x1 copy number loss not provided [RCV000748814] Chr1:977062..5179574 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.32(chr1:2700372-3208375)x3 copy number gain not provided [RCV000748853] Chr1:2700372..3208375 [GRCh37]
Chr1:1p36.32
benign
GRCh37/hg19 1p36.32(chr1:3057661-3086496)x1 copy number loss not provided [RCV000748854] Chr1:3057661..3086496 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.677-16_677-11dup duplication Left ventricular noncompaction 8 [RCV002073057]|not provided [RCV001665360]|not specified [RCV001700798] Chr1:3402771..3402772 [GRCh38]
Chr1:3319335..3319336 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.1106C>A (p.Pro369His) single nucleotide variant not provided [RCV001529357] Chr1:3405568 [GRCh38]
Chr1:3322132 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2604-25C>T single nucleotide variant not provided [RCV001584619] Chr1:3414535 [GRCh38]
Chr1:3331099 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.439-17C>T single nucleotide variant Left ventricular noncompaction 8 [RCV002077142]|not provided [RCV001700916] Chr1:3385135 [GRCh38]
Chr1:3301699 [GRCh37]
Chr1:1p36.32
likely benign
NC_000001.11:g.3069058GCG[7] microsatellite not provided [RCV001690293] Chr1:3069057..3069059 [GRCh38]
Chr1:2985621..2985623 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1638G>A (p.Lys546=) single nucleotide variant Left ventricular noncompaction 8 [RCV001464032] Chr1:3411835 [GRCh38]
Chr1:3328399 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.141C>T (p.Pro47=) single nucleotide variant Left ventricular noncompaction 8 [RCV000862730]|PRDM16-related disorder [RCV003928346] Chr1:3186228 [GRCh38]
Chr1:3102792 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.270C>A (p.Ser90=) single nucleotide variant Left ventricular noncompaction 8 [RCV001468864] Chr1:3186357 [GRCh38]
Chr1:3102921 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1524C>T (p.Pro508=) single nucleotide variant not provided [RCV001586495] Chr1:3411721 [GRCh38]
Chr1:3328285 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2513_2524dup (p.Gly838_Gln841dup) duplication Left ventricular noncompaction 8 [RCV001068102] Chr1:3412706..3412707 [GRCh38]
Chr1:3329270..3329271 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3 copy number gain See cases [RCV001007411] Chr1:82154..3349513 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_022114.4(PRDM16):c.2685C>T (p.His895=) single nucleotide variant not provided [RCV001724404]|not specified [RCV001700542] Chr1:3414641 [GRCh38]
Chr1:3331205 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.*21C>T single nucleotide variant not provided [RCV001567948] Chr1:3433832 [GRCh38]
Chr1:3350396 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.884+64_884+94del deletion not provided [RCV001725070] Chr1:3403038..3403068 [GRCh38]
Chr1:3319602..3319632 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.439-130G>A single nucleotide variant not provided [RCV001575891] Chr1:3385022 [GRCh38]
Chr1:3301586 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1863G>A (p.Thr621=) single nucleotide variant Left ventricular noncompaction 8 [RCV000868628] Chr1:3412060 [GRCh38]
Chr1:3328624 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1206C>T (p.Ser402=) single nucleotide variant Left ventricular noncompaction 8 [RCV002064503] Chr1:3411403 [GRCh38]
Chr1:3327967 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3024C>T (p.Phe1008=) single nucleotide variant Left ventricular noncompaction 8 [RCV000868286] Chr1:3425665 [GRCh38]
Chr1:3342229 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.2934G>A (p.Pro978=) single nucleotide variant Left ventricular noncompaction 8 [RCV001429519] Chr1:3418739 [GRCh38]
Chr1:3335303 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2067C>T (p.Ala689=) single nucleotide variant Left ventricular noncompaction 8 [RCV001440341] Chr1:3412264 [GRCh38]
Chr1:3328828 [GRCh37]
Chr1:1p36.32
likely benign|conflicting interpretations of pathogenicity
NM_022114.4(PRDM16):c.1080C>T (p.His360=) single nucleotide variant Left ventricular noncompaction 8 [RCV002064580] Chr1:3405542 [GRCh38]
Chr1:3322106 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.39T>C (p.Ser13=) single nucleotide variant Left ventricular noncompaction 8 [RCV001414780] Chr1:3186126 [GRCh38]
Chr1:3102690 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1461G>A (p.Glu487=) single nucleotide variant Left ventricular noncompaction 8 [RCV001463566] Chr1:3411658 [GRCh38]
Chr1:3328222 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1131G>A (p.Thr377=) single nucleotide variant Left ventricular noncompaction 8 [RCV003581737] Chr1:3405593 [GRCh38]
Chr1:3322157 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2861+9C>G single nucleotide variant Left ventricular noncompaction 8 [RCV001459065] Chr1:3418006 [GRCh38]
Chr1:3334570 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.288G>A (p.Leu96=) single nucleotide variant Left ventricular noncompaction 8 [RCV001471104] Chr1:3186375 [GRCh38]
Chr1:3102939 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.969C>T (p.Asn323=) single nucleotide variant Left ventricular noncompaction 8 [RCV000867735]|not provided [RCV001593082] Chr1:3404823 [GRCh38]
Chr1:3321387 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1926C>T (p.Ser642=) single nucleotide variant Left ventricular noncompaction 8 [RCV000868611]|not provided [RCV001796806]|not specified [RCV001796288] Chr1:3412123 [GRCh38]
Chr1:3328687 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.3795G>A (p.Ser1265=) single nucleotide variant Left ventricular noncompaction 8 [RCV000928808] Chr1:3433775 [GRCh38]
Chr1:3350339 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1359G>A (p.Pro453=) single nucleotide variant Left ventricular noncompaction 8 [RCV003741224]|not provided [RCV000870785]|not specified [RCV001729728] Chr1:3411556 [GRCh38]
Chr1:3328120 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.2259C>T (p.Ala753=) single nucleotide variant Left ventricular noncompaction 8 [RCV001486572]|not provided [RCV000866998]|not specified [RCV001700475] Chr1:3412456 [GRCh38]
Chr1:3329020 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.2280C>T (p.Asp760=) single nucleotide variant Left ventricular noncompaction 8 [RCV001451949] Chr1:3412477 [GRCh38]
Chr1:3329041 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1134C>T (p.Ser378=) single nucleotide variant Left ventricular noncompaction 8 [RCV000943949] Chr1:3405596 [GRCh38]
Chr1:3322160 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2049G>A (p.Leu683=) single nucleotide variant Left ventricular noncompaction 8 [RCV003581761] Chr1:3412246 [GRCh38]
Chr1:3328810 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2748G>A (p.Ala916=) single nucleotide variant Left ventricular noncompaction 8 [RCV000865855]|not provided [RCV001528521]|not specified [RCV001724179] Chr1:3417884 [GRCh38]
Chr1:3334448 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.648C>G (p.Pro216=) single nucleotide variant not provided [RCV000903039] Chr1:3396565 [GRCh38]
Chr1:3313129 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1625C>A (p.Thr542Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV000868352]|PRDM16-related disorder [RCV003948143] Chr1:3411822 [GRCh38]
Chr1:3328386 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV000866276]|PRDM16-related disorder [RCV003955640]|not provided [RCV001595048]|not specified [RCV001700318] Chr1:3404788 [GRCh38]
Chr1:3321352 [GRCh37]
Chr1:1p36.32
benign|likely benign|uncertain significance
NM_022114.4(PRDM16):c.2771C>G (p.Pro924Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV001036927] Chr1:3417907 [GRCh38]
Chr1:3334471 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1032+6C>A single nucleotide variant Left ventricular noncompaction 8 [RCV001055206] Chr1:3404892 [GRCh38]
Chr1:3321456 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2691+4C>T single nucleotide variant Left ventricular noncompaction 8 [RCV001055634]|not provided [RCV001796357] Chr1:3414651 [GRCh38]
Chr1:3331215 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.2057C>T (p.Thr686Met) single nucleotide variant Left ventricular noncompaction 8 [RCV001055931] Chr1:3412254 [GRCh38]
Chr1:3328818 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.675C>T (p.Asp225=) single nucleotide variant Left ventricular noncompaction 8 [RCV001043174] Chr1:3396592 [GRCh38]
Chr1:3313156 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.863G>C (p.Arg288Pro) single nucleotide variant Left ventricular noncompaction 8 [RCV001053050] Chr1:3402977 [GRCh38]
Chr1:3319541 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2227C>T (p.Arg743Ter) single nucleotide variant Left ventricular noncompaction 8 [RCV001065175] Chr1:3412424 [GRCh38]
Chr1:3328988 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3287C>T (p.Ala1096Val) single nucleotide variant Left ventricular noncompaction 8 [RCV001062012]|not provided [RCV001759819] Chr1:3430874 [GRCh38]
Chr1:3347438 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2600A>G (p.Tyr867Cys) single nucleotide variant Left ventricular noncompaction 8 [RCV001053361] Chr1:3412797 [GRCh38]
Chr1:3329361 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.832G>A (p.Gly278Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001042641]|not provided [RCV002255608] Chr1:3402946 [GRCh38]
Chr1:3319510 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363) copy number loss Chromosome 1p36 deletion syndrome [RCV000767774] Chr1:823964..6828363 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_022114.4(PRDM16):c.2114del (p.Gly705fs) deletion Left ventricular noncompaction 8 [RCV001054148] Chr1:3412310 [GRCh38]
Chr1:3328874 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949) copy number loss Chromosome 1p36 deletion syndrome [RCV000767775] Chr1:568708..3662949 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_022114.4(PRDM16):c.490G>A (p.Gly164Arg) single nucleotide variant Inborn genetic diseases [RCV003283935]|Left ventricular noncompaction 8 [RCV001060425]|PRDM16-related disorder [RCV003396699]|not provided [RCV001551105] Chr1:3385203 [GRCh38]
Chr1:3301767 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2119G>C (p.Gly707Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV001060928] Chr1:3412316 [GRCh38]
Chr1:3328880 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.573+8C>T single nucleotide variant not provided [RCV000828259] Chr1:3385294 [GRCh38]
Chr1:3301858 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.410T>C (p.Val137Ala) single nucleotide variant Left ventricular noncompaction 8 [RCV000807876] Chr1:3244109 [GRCh38]
Chr1:3160673 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1 copy number loss See cases [RCV000790584] Chr1:82154..7637060 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_022114.4(PRDM16):c.3670A>G (p.Thr1224Ala) single nucleotide variant Left ventricular noncompaction 8 [RCV000808425] Chr1:3432114 [GRCh38]
Chr1:3348678 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.77G>A (p.Arg26Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV000806059] Chr1:3186164 [GRCh38]
Chr1:3102728 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1992G>A (p.Glu664=) single nucleotide variant Left ventricular noncompaction 8 [RCV001402858] Chr1:3412189 [GRCh38]
Chr1:3328753 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.646C>A (p.Pro216Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000863878] Chr1:3396563 [GRCh38]
Chr1:3313127 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3414G>A (p.Ser1138=) single nucleotide variant Left ventricular noncompaction 8 [RCV002065541] Chr1:3431001 [GRCh38]
Chr1:3347565 [GRCh37]
Chr1:1p36.32
likely benign
GRCh37/hg19 1p36.33-36.31(chr1:1471075-5831645) copy number gain not provided [RCV000767773] Chr1:1471075..5831645 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_022114.4(PRDM16):c.387+10C>T single nucleotide variant Left ventricular noncompaction 8 [RCV001398471] Chr1:3186484 [GRCh38]
Chr1:3103048 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1554C>T (p.Phe518=) single nucleotide variant not provided [RCV000898747] Chr1:3411751 [GRCh38]
Chr1:3328315 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2385C>T (p.Pro795=) single nucleotide variant Left ventricular noncompaction 8 [RCV000876713] Chr1:3412582 [GRCh38]
Chr1:3329146 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.48C>T (p.Asp16=) single nucleotide variant Left ventricular noncompaction 8 [RCV001450108] Chr1:3186135 [GRCh38]
Chr1:3102699 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2426G>C (p.Ser809Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000983877]|not provided [RCV001551463] Chr1:3412623 [GRCh38]
Chr1:3329187 [GRCh37]
Chr1:1p36.32
likely benign
GRCh37/hg19 1p36.33-36.32(chr1:1723651-3444846)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV000856630] Chr1:1723651..3444846 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_022114.4(PRDM16):c.2295C>T (p.Gly765=) single nucleotide variant Left ventricular noncompaction 8 [RCV000872273]|PRDM16-related disorder [RCV003920413]|not provided [RCV001593094]|not specified [RCV003489951] Chr1:3412492 [GRCh38]
Chr1:3329056 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.525G>A (p.Ala175=) single nucleotide variant Left ventricular noncompaction 8 [RCV001465253]|PRDM16-related disorder [RCV003955634] Chr1:3385238 [GRCh38]
Chr1:3301802 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2436T>A (p.Arg812=) single nucleotide variant Left ventricular noncompaction 8 [RCV001089263] Chr1:3412633 [GRCh38]
Chr1:3329197 [GRCh37]
Chr1:1p36.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.2754G>A (p.Ser918=) single nucleotide variant Left ventricular noncompaction 8 [RCV000863481] Chr1:3417890 [GRCh38]
Chr1:3334454 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1869G>T (p.Ser623=) single nucleotide variant not provided [RCV000905181] Chr1:3412066 [GRCh38]
Chr1:3328630 [GRCh37]
Chr1:1p36.32
likely benign
GRCh37/hg19 1p36.33-36.32(chr1:2261222-5304873)x1 copy number loss See cases [RCV000790598] Chr1:2261222..5304873 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_022114.4(PRDM16):c.1762G>A (p.Val588Met) single nucleotide variant Left ventricular noncompaction 8 [RCV000802516] Chr1:3411959 [GRCh38]
Chr1:3328523 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1419A>C (p.Lys473Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV000804379] Chr1:3411616 [GRCh38]
Chr1:3328180 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.843C>G (p.His281Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV000813673] Chr1:3402957 [GRCh38]
Chr1:3319521 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2062G>A (p.Ala688Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000812727]|not provided [RCV001547720] Chr1:3412259 [GRCh38]
Chr1:3328823 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.3592C>A (p.Leu1198Ile) single nucleotide variant Left ventricular noncompaction 8 [RCV000815644] Chr1:3432036 [GRCh38]
Chr1:3348600 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2148G>C (p.Leu716=) single nucleotide variant Left ventricular noncompaction 8 [RCV002536097]|not provided [RCV000827554] Chr1:3412345 [GRCh38]
Chr1:3328909 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3284+179G>A single nucleotide variant not provided [RCV000834031] Chr1:3426404 [GRCh38]
Chr1:3342968 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.387+167G>T single nucleotide variant not provided [RCV000839491] Chr1:3186641 [GRCh38]
Chr1:3103205 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.2229A>C (p.Arg743=) single nucleotide variant not provided [RCV000915715] Chr1:3412426 [GRCh38]
Chr1:3328990 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.574-92C>T single nucleotide variant not provided [RCV000834055] Chr1:3396399 [GRCh38]
Chr1:3312963 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3697-146_3697-139del deletion not provided [RCV000834056] Chr1:3433531..3433538 [GRCh38]
Chr1:3350095..3350102 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.884+112C>T single nucleotide variant not provided [RCV000834058] Chr1:3403110 [GRCh38]
Chr1:3319674 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3285-81A>G single nucleotide variant not provided [RCV000835774] Chr1:3430791 [GRCh38]
Chr1:3347355 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3696+126G>A single nucleotide variant not provided [RCV000835775] Chr1:3432266 [GRCh38]
Chr1:3348830 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3631G>A (p.Val1211Met) single nucleotide variant Left ventricular noncompaction 8 [RCV000801066] Chr1:3432075 [GRCh38]
Chr1:3348639 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1187-77T>C single nucleotide variant not provided [RCV000835810] Chr1:3411307 [GRCh38]
Chr1:3327871 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.884+105G>A single nucleotide variant not provided [RCV000839529] Chr1:3403103 [GRCh38]
Chr1:3319667 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3697-276G>A single nucleotide variant not provided [RCV000828499] Chr1:3433401 [GRCh38]
Chr1:3349965 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3097G>A (p.Glu1033Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV000797953] Chr1:3425738 [GRCh38]
Chr1:3342302 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3697-137_3697-107del deletion not provided [RCV000834174] Chr1:3433540..3433570 [GRCh38]
Chr1:3350104..3350134 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3284+145A>G single nucleotide variant not provided [RCV000834193] Chr1:3426370 [GRCh38]
Chr1:3342934 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.884+148A>G single nucleotide variant not provided [RCV000834199] Chr1:3403146 [GRCh38]
Chr1:3319710 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.884+149C>G single nucleotide variant not provided [RCV000834200] Chr1:3403147 [GRCh38]
Chr1:3319711 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.677-111G>A single nucleotide variant not provided [RCV000834216] Chr1:3402680 [GRCh38]
Chr1:3319244 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3596G>A (p.Arg1199His) single nucleotide variant Left ventricular noncompaction 8 [RCV000799629] Chr1:3432040 [GRCh38]
Chr1:3348604 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3658G>A (p.Ala1220Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000801418] Chr1:3432102 [GRCh38]
Chr1:3348666 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2521_2526dup (p.Gln841_Val842dup) duplication Left ventricular noncompaction 8 [RCV002538216]|not provided [RCV004017752] Chr1:3412717..3412718 [GRCh38]
Chr1:3329281..3329282 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2503G>A (p.Ala835Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000805092]|not provided [RCV001796237] Chr1:3412700 [GRCh38]
Chr1:3329264 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.2146C>G (p.Leu716Val) single nucleotide variant Left ventricular noncompaction 8 [RCV000821512] Chr1:3412343 [GRCh38]
Chr1:3328907 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1958T>C (p.Leu653Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV000805126] Chr1:3412155 [GRCh38]
Chr1:3328719 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2692-282C>T single nucleotide variant not provided [RCV000832644] Chr1:3417546 [GRCh38]
Chr1:3334110 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2692-274G>C single nucleotide variant not provided [RCV000832645] Chr1:3417554 [GRCh38]
Chr1:3334118 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1186+171G>A single nucleotide variant not provided [RCV000838227] Chr1:3405819 [GRCh38]
Chr1:3322383 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1033-76G>A single nucleotide variant not provided [RCV000834783] Chr1:3405419 [GRCh38]
Chr1:3321983 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1186+218G>A single nucleotide variant not provided [RCV000834784] Chr1:3405866 [GRCh38]
Chr1:3322430 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.2861+37C>T single nucleotide variant not provided [RCV000834785] Chr1:3418034 [GRCh38]
Chr1:3334598 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.359C>T (p.Ala120Val) single nucleotide variant Left ventricular noncompaction 8 [RCV000824502] Chr1:3186446 [GRCh38]
Chr1:3103010 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.213del (p.Val72fs) deletion Left ventricular noncompaction 8 [RCV000791640] Chr1:3186300 [GRCh38]
Chr1:3102864 [GRCh37]
Chr1:1p36.32
conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.1983C>T (p.Ser661=) single nucleotide variant Left ventricular noncompaction 8 [RCV001464355]|not specified [RCV000825820] Chr1:3412180 [GRCh38]
Chr1:3328744 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.438+308C>G single nucleotide variant not provided [RCV000830683] Chr1:3244445 [GRCh38]
Chr1:3161009 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1187-143C>T single nucleotide variant not provided [RCV000838707] Chr1:3411241 [GRCh38]
Chr1:3327805 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.2603+217G>A single nucleotide variant not provided [RCV000838708] Chr1:3413017 [GRCh38]
Chr1:3329581 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3461A>C (p.Glu1154Ala) single nucleotide variant Left ventricular noncompaction 8 [RCV000791964]|not provided [RCV001597214] Chr1:3431048 [GRCh38]
Chr1:3347612 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.2940-301A>G single nucleotide variant not provided [RCV000830686] Chr1:3425280 [GRCh38]
Chr1:3341844 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3051C>T (p.Phe1017=) single nucleotide variant Left ventricular noncompaction 8 [RCV001416079]|not provided [RCV000840715] Chr1:3425692 [GRCh38]
Chr1:3342256 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.438+16C>G single nucleotide variant not provided [RCV000827236] Chr1:3244153 [GRCh38]
Chr1:3160717 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2227C>G (p.Arg743Gly) single nucleotide variant Left ventricular noncompaction 8 [RCV000809470] Chr1:3412424 [GRCh38]
Chr1:3328988 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2940-118G>A single nucleotide variant not provided [RCV000839114] Chr1:3425463 [GRCh38]
Chr1:3342027 [GRCh37]
Chr1:1p36.32
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787413] Chr1:554375..9779842 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_022114.3(PRDM16):c.-412G>A single nucleotide variant not provided [RCV000830375] Chr1:3068848 [GRCh38]
Chr1:2985412 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.37+25C>G single nucleotide variant not provided [RCV000834030] Chr1:3069321 [GRCh38]
Chr1:2985885 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3697-107T>C single nucleotide variant not provided [RCV000834032] Chr1:3433570 [GRCh38]
Chr1:3350134 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.574-141T>G single nucleotide variant not provided [RCV000834033] Chr1:3396350 [GRCh38]
Chr1:3312914 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.885-136C>A single nucleotide variant not provided [RCV000834034] Chr1:3404603 [GRCh38]
Chr1:3321167 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.884+119C>G single nucleotide variant not provided [RCV000834059] Chr1:3403117 [GRCh38]
Chr1:3319681 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.884+215G>A single nucleotide variant not provided [RCV000834060] Chr1:3403213 [GRCh38]
Chr1:3319777 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.885-169G>A single nucleotide variant not provided [RCV000834061] Chr1:3404570 [GRCh38]
Chr1:3321134 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3697-146T>C single nucleotide variant not provided [RCV000834063] Chr1:3433531 [GRCh38]
Chr1:3350095 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3109+50C>T single nucleotide variant not provided [RCV000834182] Chr1:3425800 [GRCh38]
Chr1:3342364 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3320G>A (p.Cys1107Tyr) single nucleotide variant Left ventricular noncompaction 8 [RCV000800490] Chr1:3430907 [GRCh38]
Chr1:3347471 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.756G>A (p.Thr252=) single nucleotide variant Left ventricular noncompaction 8 [RCV002068595]|not provided [RCV000841600] Chr1:3402870 [GRCh38]
Chr1:3319434 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.885-109C>T single nucleotide variant not provided [RCV000835791] Chr1:3404630 [GRCh38]
Chr1:3321194 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.2939+91G>T single nucleotide variant not provided [RCV000835792] Chr1:3418835 [GRCh38]
Chr1:3335399 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3733C>G (p.Pro1245Ala) single nucleotide variant not provided [RCV000788759] Chr1:3433713 [GRCh38]
Chr1:3350277 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3306C>T (p.Asp1102=) single nucleotide variant Left ventricular noncompaction 8 [RCV001482303]|not provided [RCV000842224] Chr1:3430893 [GRCh38]
Chr1:3347457 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.38-169C>A single nucleotide variant not provided [RCV000839599] Chr1:3185956 [GRCh38]
Chr1:3102520 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3544G>A (p.Gly1182Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV000814373]|not provided [RCV002067398] Chr1:3431988 [GRCh38]
Chr1:3348552 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.10:g.(?_2985804)_(2985880_?)dup duplication Left ventricular noncompaction 8 [RCV000803919] Chr1:3069240..3069316 [GRCh38]
Chr1:2985804..2985880 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.387+274G>T single nucleotide variant not provided [RCV000827985] Chr1:3186748 [GRCh38]
Chr1:3103312 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1164C>T (p.His388=) single nucleotide variant not provided [RCV000993891] Chr1:3405626 [GRCh38]
Chr1:3322190 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1954G>A (p.Gly652Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV000791467] Chr1:3412151 [GRCh38]
Chr1:3328715 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2566G>A (p.Ala856Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000808380] Chr1:3412763 [GRCh38]
Chr1:3329327 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1508C>T (p.Ala503Val) single nucleotide variant Left ventricular noncompaction 8 [RCV000794899] Chr1:3411705 [GRCh38]
Chr1:3328269 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.107A>C (p.Asp36Ala) single nucleotide variant Left ventricular noncompaction 8 [RCV000793591] Chr1:3186194 [GRCh38]
Chr1:3102758 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3211T>A (p.Ser1071Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV000821511] Chr1:3426152 [GRCh38]
Chr1:3342716 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3194T>C (p.Leu1065Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV000824514] Chr1:3426135 [GRCh38]
Chr1:3342699 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1032+265G>C single nucleotide variant not provided [RCV000828629] Chr1:3405151 [GRCh38]
Chr1:3321715 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1832C>T (p.Thr611Met) single nucleotide variant Left ventricular noncompaction 8 [RCV000801926] Chr1:3412029 [GRCh38]
Chr1:3328593 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2498T>C (p.Leu833Pro) single nucleotide variant Left ventricular noncompaction 8 [RCV000799120] Chr1:3412695 [GRCh38]
Chr1:3329259 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.677-294A>G single nucleotide variant not provided [RCV000843885] Chr1:3402497 [GRCh38]
Chr1:3319061 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3522-262G>C single nucleotide variant not provided [RCV000843886] Chr1:3431704 [GRCh38]
Chr1:3348268 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.91A>G (p.Ser31Gly) single nucleotide variant Left ventricular noncompaction 8 [RCV000810793] Chr1:3186178 [GRCh38]
Chr1:3102742 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3110-85G>A single nucleotide variant not provided [RCV000834038] Chr1:3425966 [GRCh38]
Chr1:3342530 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.676+125G>A single nucleotide variant not provided [RCV000834057] Chr1:3396718 [GRCh38]
Chr1:3313282 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1032+285G>A single nucleotide variant not provided [RCV000829029] Chr1:3405171 [GRCh38]
Chr1:3321735 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.573+112C>A single nucleotide variant not provided [RCV000834177] Chr1:3385398 [GRCh38]
Chr1:3301962 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1725C>T (p.Pro575=) single nucleotide variant Left ventricular noncompaction 8 [RCV001500460]|not provided [RCV000841267] Chr1:3411922 [GRCh38]
Chr1:3328486 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.574-10T>G single nucleotide variant not provided [RCV000788639] Chr1:3396481 [GRCh38]
Chr1:3313045 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2604-128G>A single nucleotide variant not provided [RCV000834180] Chr1:3414432 [GRCh38]
Chr1:3330996 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1191G>A (p.Glu397=) single nucleotide variant not provided [RCV000841548] Chr1:3411388 [GRCh38]
Chr1:3327952 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1035G>A (p.Val345=) single nucleotide variant not provided [RCV000920117] Chr1:3405497 [GRCh38]
Chr1:3322061 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2535G>A (p.Ala845=) single nucleotide variant Left ventricular noncompaction 8 [RCV000875966] Chr1:3412732 [GRCh38]
Chr1:3329296 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2604-237C>T single nucleotide variant not provided [RCV000838187] Chr1:3414323 [GRCh38]
Chr1:3330887 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.2604-240G>A single nucleotide variant not provided [RCV000838200] Chr1:3414320 [GRCh38]
Chr1:3330884 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.2283C>T (p.Ala761=) single nucleotide variant Left ventricular noncompaction 8 [RCV003768599]|not provided [RCV000841610] Chr1:3412480 [GRCh38]
Chr1:3329044 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3757T>C (p.Ser1253Pro) single nucleotide variant Inborn genetic diseases [RCV004029123]|Left ventricular noncompaction 8 [RCV000823040] Chr1:3433737 [GRCh38]
Chr1:3350301 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1 copy number loss not provided [RCV003312163] Chr1:536777..6012896 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_022114.4(PRDM16):c.439-140C>G single nucleotide variant not provided [RCV000839166] Chr1:3385012 [GRCh38]
Chr1:3301576 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2784C>G (p.His928Gln) single nucleotide variant not provided [RCV003239061] Chr1:3417920 [GRCh38]
Chr1:3334484 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.387+6C>A single nucleotide variant Left ventricular noncompaction 8 [RCV000813569] Chr1:3186480 [GRCh38]
Chr1:3103044 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2334G>C (p.Lys778Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV000798009] Chr1:3412531 [GRCh38]
Chr1:3329095 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3285-241T>C single nucleotide variant not provided [RCV000839358] Chr1:3430631 [GRCh38]
Chr1:3347195 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1680C>T (p.Ser560=) single nucleotide variant Left ventricular noncompaction 8 [RCV001858550] Chr1:3411877 [GRCh38]
Chr1:3328441 [GRCh37]
Chr1:1p36.32
likely benign
GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1 copy number loss not provided [RCV001005058] Chr1:849466..6002955 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1 copy number loss not provided [RCV001005059] Chr1:849466..5625566 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.32(chr1:3318964-3337395)x1 copy number loss not provided [RCV000849397] Chr1:3318964..3337395 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.229G>C (p.Asp77His) single nucleotide variant Left ventricular noncompaction 8 [RCV003582560] Chr1:3186316 [GRCh38]
Chr1:3102880 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1 copy number loss not provided [RCV001005057] Chr1:849466..7786545 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
NM_022114.4(PRDM16):c.3724G>A (p.Glu1242Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV001198330]|not provided [RCV003227931] Chr1:3433704 [GRCh38]
Chr1:3350268 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3578G>A (p.Gly1193Glu) single nucleotide variant Left ventricular noncompaction 8 [RCV001222365] Chr1:3432022 [GRCh38]
Chr1:3348586 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2362A>T (p.Met788Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001225763]|Primary dilated cardiomyopathy [RCV001375650] Chr1:3412559 [GRCh38]
Chr1:3329123 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1715C>A (p.Ala572Asp) single nucleotide variant Inborn genetic diseases [RCV002563100]|Left ventricular noncompaction 8 [RCV001226788] Chr1:3411912 [GRCh38]
Chr1:3328476 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2618G>A (p.Arg873Gln) single nucleotide variant Inborn genetic diseases [RCV004034734]|Left ventricular noncompaction 8 [RCV001242962]|not provided [RCV001587272] Chr1:3414574 [GRCh38]
Chr1:3331138 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.1597_1598delinsCT (p.Ser533Leu) indel Left ventricular noncompaction 8 [RCV001226850] Chr1:3411794..3411795 [GRCh38]
Chr1:3328358..3328359 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1041G>A (p.Thr347=) single nucleotide variant Left ventricular noncompaction 8 [RCV001208427] Chr1:3405503 [GRCh38]
Chr1:3322067 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1506G>A (p.Thr502=) single nucleotide variant Left ventricular noncompaction 8 [RCV001227240]|PRDM16-related disorder [RCV003973150] Chr1:3411703 [GRCh38]
Chr1:3328267 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.2033C>G (p.Pro678Arg) single nucleotide variant Inborn genetic diseases [RCV004034738]|Left ventricular noncompaction 8 [RCV001243000] Chr1:3412230 [GRCh38]
Chr1:3328794 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3766G>T (p.Ala1256Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001222909] Chr1:3433746 [GRCh38]
Chr1:3350310 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.342G>A (p.Val114=) single nucleotide variant Left ventricular noncompaction 8 [RCV001243111]|PRDM16-related disorder [RCV003953600]|not provided [RCV001727847]|not specified [RCV001700991] Chr1:3186429 [GRCh38]
Chr1:3102993 [GRCh37]
Chr1:1p36.32
benign|likely benign|uncertain significance
NM_022114.4(PRDM16):c.278G>A (p.Gly93Glu) single nucleotide variant Left ventricular noncompaction 8 [RCV001203589] Chr1:3186365 [GRCh38]
Chr1:3102929 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3068T>G (p.Leu1023Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV001221387] Chr1:3425709 [GRCh38]
Chr1:3342273 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.866T>C (p.Met289Thr) single nucleotide variant Inborn genetic diseases [RCV003166523]|Left ventricular noncompaction 8 [RCV001243538] Chr1:3402980 [GRCh38]
Chr1:3319544 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2604-1G>T single nucleotide variant Left ventricular noncompaction 8 [RCV001224028] Chr1:3414559 [GRCh38]
Chr1:3331123 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.700G>A (p.Glu234Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV001203784] Chr1:3402814 [GRCh38]
Chr1:3319378 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2276G>A (p.Arg759Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV001043056]|not provided [RCV001772235] Chr1:3412473 [GRCh38]
Chr1:3329037 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3327C>T (p.Gly1109=) single nucleotide variant Left ventricular noncompaction 8 [RCV001223528] Chr1:3430914 [GRCh38]
Chr1:3347478 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.2209C>T (p.Leu737Phe) single nucleotide variant Left ventricular noncompaction 8 [RCV001225640] Chr1:3412406 [GRCh38]
Chr1:3328970 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3176C>T (p.Ser1059Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001226140] Chr1:3426117 [GRCh38]
Chr1:3342681 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.565A>G (p.Ser189Gly) single nucleotide variant Left ventricular noncompaction 8 [RCV001197743] Chr1:3385278 [GRCh38]
Chr1:3301842 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1110C>A (p.Asp370Glu) single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000853139] Chr1:3405572 [GRCh38]
Chr1:3322136 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1 copy number loss not provided [RCV001005060] Chr1:849466..4829059 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_022114.4(PRDM16):c.3522-14G>A single nucleotide variant Left ventricular noncompaction 8 [RCV003106258] Chr1:3431952 [GRCh38]
Chr1:3348516 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.103G>A (p.Glu35Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV003104247] Chr1:3186190 [GRCh38]
Chr1:3102754 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3284+46A>C single nucleotide variant not provided [RCV001549594] Chr1:3426271 [GRCh38]
Chr1:3342835 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3285-20C>A single nucleotide variant Left ventricular noncompaction 8 [RCV003107158] Chr1:3430852 [GRCh38]
Chr1:3347416 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1327C>T (p.Arg443Cys) single nucleotide variant Left ventricular noncompaction 8 [RCV003107404] Chr1:3411524 [GRCh38]
Chr1:3328088 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.737G>A (p.Arg246Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV002032594]|not provided [RCV001553244] Chr1:3402851 [GRCh38]
Chr1:3319415 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1981A>G (p.Ser661Gly) single nucleotide variant Left ventricular noncompaction 8 [RCV003741267]|not provided [RCV001599121] Chr1:3412178 [GRCh38]
Chr1:3328742 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1187-158A>G single nucleotide variant not provided [RCV001568615] Chr1:3411226 [GRCh38]
Chr1:3327790 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1633G>A (p.Ala545Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV002032619]|not provided [RCV001556595] Chr1:3411830 [GRCh38]
Chr1:3328394 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3285-233C>T single nucleotide variant not provided [RCV001569860] Chr1:3430639 [GRCh38]
Chr1:3347203 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2604-202G>A single nucleotide variant not provided [RCV001557128] Chr1:3414358 [GRCh38]
Chr1:3330922 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2297G>A (p.Gly766Asp) single nucleotide variant not provided [RCV001699672] Chr1:3412494 [GRCh38]
Chr1:3329058 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3221C>T (p.Ser1074Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV002570738]|not provided [RCV001562611] Chr1:3426162 [GRCh38]
Chr1:3342726 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3697-137_3697-68del deletion not provided [RCV001649938] Chr1:3433540..3433609 [GRCh38]
Chr1:3350104..3350173 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.2862-178C>G single nucleotide variant not provided [RCV001548446] Chr1:3418489 [GRCh38]
Chr1:3335053 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1032+54G>A single nucleotide variant not provided [RCV001571985] Chr1:3404940 [GRCh38]
Chr1:3321504 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2692-159dup duplication not provided [RCV001665285] Chr1:3417663..3417664 [GRCh38]
Chr1:3334227..3334228 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3792G>A (p.Thr1264=) single nucleotide variant Left ventricular noncompaction 8 [RCV003581798]|not provided [RCV001726660]|not specified [RCV001700920] Chr1:3433772 [GRCh38]
Chr1:3350336 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.*15G>A single nucleotide variant not provided [RCV001558915]|not specified [RCV003230681] Chr1:3433826 [GRCh38]
Chr1:3350390 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.884+245C>T single nucleotide variant not provided [RCV001708167] Chr1:3403243 [GRCh38]
Chr1:3319807 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.663G>T (p.Pro221=) single nucleotide variant Left ventricular noncompaction 8 [RCV002066475] Chr1:3396580 [GRCh38]
Chr1:3313144 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1047C>T (p.Pro349=) single nucleotide variant Left ventricular noncompaction 8 [RCV001517371] Chr1:3405509 [GRCh38]
Chr1:3322073 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1158T>C (p.His386=) single nucleotide variant Left ventricular noncompaction 8 [RCV001493994] Chr1:3405620 [GRCh38]
Chr1:3322184 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3363G>A (p.Glu1121=) single nucleotide variant Left ventricular noncompaction 8 [RCV001469336] Chr1:3430950 [GRCh38]
Chr1:3347514 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2079C>T (p.Ile693=) single nucleotide variant Left ventricular noncompaction 8 [RCV003581763] Chr1:3412276 [GRCh38]
Chr1:3328840 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2667G>A (p.Pro889=) single nucleotide variant Left ventricular noncompaction 8 [RCV000869969] Chr1:3414623 [GRCh38]
Chr1:3331187 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2372G>A (p.Gly791Asp) single nucleotide variant Familial restrictive cardiomyopathy [RCV000853133] Chr1:3412569 [GRCh38]
Chr1:3329133 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1953C>T (p.Gly651=) single nucleotide variant Left ventricular noncompaction 8 [RCV001452832] Chr1:3412150 [GRCh38]
Chr1:3328714 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3110-5C>T single nucleotide variant Left ventricular noncompaction 8 [RCV000952369] Chr1:3426046 [GRCh38]
Chr1:3342610 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2532G>A (p.Pro844=) single nucleotide variant Left ventricular noncompaction 8 [RCV000863449]|not provided [RCV001724176] Chr1:3412729 [GRCh38]
Chr1:3329293 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2991C>T (p.His997=) single nucleotide variant Left ventricular noncompaction 8 [RCV001495235] Chr1:3425632 [GRCh38]
Chr1:3342196 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2113G>A (p.Gly705Ser) single nucleotide variant not provided [RCV001760526] Chr1:3412310 [GRCh38]
Chr1:3328874 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.306G>A (p.Arg102=) single nucleotide variant Left ventricular noncompaction 8 [RCV001487157] Chr1:3186393 [GRCh38]
Chr1:3102957 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1186+10C>T single nucleotide variant Left ventricular noncompaction 8 [RCV002540028] Chr1:3405658 [GRCh38]
Chr1:3322222 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2035G>A (p.Asp679Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV001447396]|not provided [RCV000864799] Chr1:3412232 [GRCh38]
Chr1:3328796 [GRCh37]
Chr1:1p36.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.687G>A (p.Thr229=) single nucleotide variant Left ventricular noncompaction 8 [RCV002064894] Chr1:3402801 [GRCh38]
Chr1:3319365 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3697-5G>A single nucleotide variant Left ventricular noncompaction 8 [RCV000872491] Chr1:3433672 [GRCh38]
Chr1:3350236 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1047dup (p.Ser350fs) duplication Left ventricular noncompaction 8 [RCV001208036] Chr1:3405505..3405506 [GRCh38]
Chr1:3322069..3322070 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1441G>A (p.Ala481Thr) single nucleotide variant Inborn genetic diseases [RCV003166536]|Left ventricular noncompaction 8 [RCV001244923] Chr1:3411638 [GRCh38]
Chr1:3328202 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2167T>A (p.Ser723Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV001050437] Chr1:3412364 [GRCh38]
Chr1:3328928 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2849G>A (p.Arg950Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV001243291] Chr1:3417985 [GRCh38]
Chr1:3334549 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2419A>G (p.Ile807Val) single nucleotide variant Left ventricular noncompaction 8 [RCV001245009] Chr1:3412616 [GRCh38]
Chr1:3329180 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.11:g.(?_3186115)_(3244147_?)dup duplication Left ventricular noncompaction 8 [RCV001031438] Chr1:3102679..3160711 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.11:g.(?_3041036)_(3244147_?)dup duplication Left ventricular noncompaction 8 [RCV001033795] Chr1:2957600..3160711 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.205G>A (p.Glu69Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV001227909] Chr1:3186292 [GRCh38]
Chr1:3102856 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.115G>A (p.Glu39Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV001244188]|not provided [RCV001571465] Chr1:3186202 [GRCh38]
Chr1:3102766 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.681G>A (p.Glu227=) single nucleotide variant not provided [RCV000912229] Chr1:3402795 [GRCh38]
Chr1:3319359 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2862-10T>A single nucleotide variant Left ventricular noncompaction 8 [RCV000911624] Chr1:3418657 [GRCh38]
Chr1:3335221 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1137C>T (p.Ser379=) single nucleotide variant not provided [RCV000934772] Chr1:3405599 [GRCh38]
Chr1:3322163 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.525G>C (p.Ala175=) single nucleotide variant Left ventricular noncompaction 8 [RCV000912768] Chr1:3385238 [GRCh38]
Chr1:3301802 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3384G>C (p.Glu1128Asp) single nucleotide variant not provided [RCV001562224] Chr1:3430971 [GRCh38]
Chr1:3347535 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1907A>G (p.Asp636Gly) single nucleotide variant Left ventricular noncompaction 8 [RCV002568366]|not provided [RCV001557185] Chr1:3412104 [GRCh38]
Chr1:3328668 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3696+111C>T single nucleotide variant not provided [RCV001562821] Chr1:3432251 [GRCh38]
Chr1:3348815 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1187-44G>A single nucleotide variant not provided [RCV001563280] Chr1:3411340 [GRCh38]
Chr1:3327904 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3697-107_3697-100del deletion not provided [RCV001575337] Chr1:3433570..3433577 [GRCh38]
Chr1:3350134..3350141 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3522-227G>A single nucleotide variant not provided [RCV001593593] Chr1:3431739 [GRCh38]
Chr1:3348303 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1185_1186del (p.Ile395fs) microsatellite Left ventricular noncompaction 8 [RCV002466856] Chr1:3405645..3405646 [GRCh38]
Chr1:3322209..3322210 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1032+45G>A single nucleotide variant not provided [RCV001552909] Chr1:3404931 [GRCh38]
Chr1:3321495 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2691+61G>A single nucleotide variant not provided [RCV001552911] Chr1:3414708 [GRCh38]
Chr1:3331272 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.439-21G>C single nucleotide variant not provided [RCV001593989] Chr1:3385131 [GRCh38]
Chr1:3301695 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2259C>G (p.Ala753=) single nucleotide variant Left ventricular noncompaction 8 [RCV002569023]|not provided [RCV001564389] Chr1:3412456 [GRCh38]
Chr1:3329020 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1032+46C>G single nucleotide variant not provided [RCV001569273] Chr1:3404932 [GRCh38]
Chr1:3321496 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.37+256dup duplication not provided [RCV001556265] Chr1:3069544..3069545 [GRCh38]
Chr1:2986108..2986109 [GRCh37]
Chr1:1p36.32
likely benign
GRCh37/hg19 1p36.33-36.32(chr1:2194087-4738355)x3 copy number gain not provided [RCV002473692] Chr1:2194087..4738355 [GRCh37]
Chr1:1p36.33-36.32
uncertain significance
NM_022114.4(PRDM16):c.755C>T (p.Thr252Met) single nucleotide variant Left ventricular noncompaction 8 [RCV001044985] Chr1:3402869 [GRCh38]
Chr1:3319433 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.395T>C (p.Leu132Pro) single nucleotide variant Inborn genetic diseases [RCV004030575]|Left ventricular noncompaction 8 [RCV001065200] Chr1:3244094 [GRCh38]
Chr1:3160658 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.658G>A (p.Val220Met) single nucleotide variant Left ventricular noncompaction 8 [RCV001066916] Chr1:3396575 [GRCh38]
Chr1:3313139 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1573C>T (p.Arg525Trp) single nucleotide variant Left ventricular noncompaction 8 [RCV001066457]|not provided [RCV001699505] Chr1:3411770 [GRCh38]
Chr1:3328334 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.215T>G (p.Val72Gly) single nucleotide variant not provided [RCV001528896] Chr1:3186302 [GRCh38]
Chr1:3102866 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.*50A>G single nucleotide variant not provided [RCV001719564] Chr1:3433861 [GRCh38]
Chr1:3350425 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3697-68T>C single nucleotide variant not provided [RCV001719565] Chr1:3433609 [GRCh38]
Chr1:3350173 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3492C>T (p.Ser1164=) single nucleotide variant Left ventricular noncompaction 8 [RCV002073385]|not provided [RCV001723386] Chr1:3431079 [GRCh38]
Chr1:3347643 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.884+64_884+94dup duplication not provided [RCV001619384] Chr1:3403037..3403038 [GRCh38]
Chr1:3319601..3319602 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.489G>A (p.Ala163=) single nucleotide variant Left ventricular noncompaction 8 [RCV002073049]|not provided [RCV001652991] Chr1:3385202 [GRCh38]
Chr1:3301766 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2940-36G>T single nucleotide variant Left ventricular noncompaction 8 [RCV001789560]|not provided [RCV001719638] Chr1:3425545 [GRCh38]
Chr1:3342109 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.439-138G>C single nucleotide variant not provided [RCV001575451] Chr1:3385014 [GRCh38]
Chr1:3301578 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3300C>T (p.Ile1100=) single nucleotide variant Left ventricular noncompaction 8 [RCV002579479]|not provided [RCV001592086] Chr1:3430887 [GRCh38]
Chr1:3347451 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1040C>T (p.Thr347Met) single nucleotide variant not provided [RCV001699688] Chr1:3405502 [GRCh38]
Chr1:3322066 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2691+240C>A single nucleotide variant not provided [RCV001594353] Chr1:3414887 [GRCh38]
Chr1:3331451 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3746C>G (p.Pro1249Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV002538624]|not provided [RCV001700820] Chr1:3433726 [GRCh38]
Chr1:3350290 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.11:g.3068981G>C single nucleotide variant not provided [RCV001596335] Chr1:3068981 [GRCh38]
Chr1:2985545 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3208G>A (p.Asp1070Asn) single nucleotide variant not specified [RCV001169988] Chr1:3426149 [GRCh38]
Chr1:3342713 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2006A>G (p.Tyr669Cys) single nucleotide variant Left ventricular noncompaction 8 [RCV001228643] Chr1:3412203 [GRCh38]
Chr1:3328767 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.11:g.(?_3396481)_(3404896_?)del deletion Left ventricular noncompaction 8 [RCV001032673] Chr1:3313045..3321460 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.11:g.(?_3186115)_(3186484_?)dup duplication Left ventricular noncompaction 8 [RCV001032783] Chr1:3102679..3103048 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.388C>G (p.Gln130Glu) single nucleotide variant Inborn genetic diseases [RCV004030780]|Left ventricular noncompaction 8 [RCV001071250] Chr1:3244087 [GRCh38]
Chr1:3160651 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3522-245del deletion not provided [RCV001588678] Chr1:3431717 [GRCh38]
Chr1:3348281 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.438+39G>A single nucleotide variant not provided [RCV001585340] Chr1:3244176 [GRCh38]
Chr1:3160740 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3521+170G>C single nucleotide variant not provided [RCV001725062] Chr1:3431278 [GRCh38]
Chr1:3347842 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1033-118A>G single nucleotide variant not provided [RCV001572555] Chr1:3405377 [GRCh38]
Chr1:3321941 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.*73C>T single nucleotide variant not provided [RCV001612705] Chr1:3433884 [GRCh38]
Chr1:3350448 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.2861+38G>A single nucleotide variant not provided [RCV001547275] Chr1:3418035 [GRCh38]
Chr1:3334599 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.*34G>A single nucleotide variant not provided [RCV001645614] Chr1:3433845 [GRCh38]
Chr1:3350409 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.1006C>T (p.Arg336Cys) single nucleotide variant Left ventricular noncompaction 8 [RCV001203072]|not provided [RCV001751374] Chr1:3404860 [GRCh38]
Chr1:3321424 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1820T>C (p.Val607Ala) single nucleotide variant Left ventricular noncompaction 8 [RCV001247379] Chr1:3412017 [GRCh38]
Chr1:3328581 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1781G>C (p.Arg594Thr) single nucleotide variant Inborn genetic diseases [RCV004031805]|Left ventricular noncompaction 8 [RCV001057277] Chr1:3411978 [GRCh38]
Chr1:3328542 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3436G>A (p.Ala1146Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV001057587] Chr1:3431023 [GRCh38]
Chr1:3347587 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.264G>T (p.Glu88Asp) single nucleotide variant Left ventricular noncompaction 8 [RCV001237048]|not provided [RCV001587266] Chr1:3186351 [GRCh38]
Chr1:3102915 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1796C>T (p.Ser599Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001217840]|not provided [RCV003117850] Chr1:3411993 [GRCh38]
Chr1:3328557 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.10:g.(?_955543)_(3350385_?)del deletion Left ventricular noncompaction 8 [RCV001033604] Chr1:955543..3350385 [GRCh37]
Chr1:1p36.33-36.32
uncertain significance
NM_022114.4(PRDM16):c.2236G>A (p.Ala746Thr) single nucleotide variant Inborn genetic diseases [RCV003263872]|Left ventricular noncompaction 8 [RCV001235494]|not provided [RCV001575921] Chr1:3412433 [GRCh38]
Chr1:3328997 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2663G>A (p.Arg888Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV001202313]|not provided [RCV001700719] Chr1:3414619 [GRCh38]
Chr1:3331183 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.93C>G (p.Ser31Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV001235627] Chr1:3186180 [GRCh38]
Chr1:3102744 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3272G>A (p.Arg1091Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV001059513] Chr1:3426213 [GRCh38]
Chr1:3342777 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.3563C>T (p.Pro1188Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001049287] Chr1:3432007 [GRCh38]
Chr1:3348571 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3812A>G (p.His1271Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV001039609] Chr1:3433792 [GRCh38]
Chr1:3350356 [GRCh37]
Chr1:1p36.32
uncertain significance
Single allele deletion Chromosome 1p36 deletion syndrome [RCV001250754] Chr1:1670720..3816863 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_022114.4(PRDM16):c.2769G>T (p.Gln923His) single nucleotide variant Left ventricular noncompaction 8 [RCV001039812] Chr1:3417905 [GRCh38]
Chr1:3334469 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2587A>G (p.Met863Val) single nucleotide variant Left ventricular noncompaction 8 [RCV001201733] Chr1:3412784 [GRCh38]
Chr1:3329348 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2694G>A (p.Met898Ile) single nucleotide variant Left ventricular noncompaction 8 [RCV001041135] Chr1:3417830 [GRCh38]
Chr1:3334394 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1753G>A (p.Asp585Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV001213275] Chr1:3411950 [GRCh38]
Chr1:3328514 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1399C>T (p.Pro467Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001213557] Chr1:3411596 [GRCh38]
Chr1:3328160 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2631C>A (p.Asp877Glu) single nucleotide variant Left ventricular noncompaction 8 [RCV001231438] Chr1:3414587 [GRCh38]
Chr1:3331151 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3363G>C (p.Glu1121Asp) single nucleotide variant Left ventricular noncompaction 8 [RCV001042173]|not provided [RCV002275210] Chr1:3430950 [GRCh38]
Chr1:3347514 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1056dup (p.Gln353fs) duplication Left ventricular noncompaction 8 [RCV001063000] Chr1:3405516..3405517 [GRCh38]
Chr1:3322080..3322081 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2405C>T (p.Pro802Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001063133] Chr1:3412602 [GRCh38]
Chr1:3329166 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2689C>T (p.Gln897Ter) single nucleotide variant Left ventricular noncompaction 8 [RCV001215838] Chr1:3414645 [GRCh38]
Chr1:3331209 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.172G>A (p.Glu58Lys) single nucleotide variant Inborn genetic diseases [RCV004033964]|Left ventricular noncompaction 8 [RCV001215476] Chr1:3186259 [GRCh38]
Chr1:3102823 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1286G>A (p.Gly429Asp) single nucleotide variant Left ventricular noncompaction 8 [RCV001879917]|Primary dilated cardiomyopathy [RCV001254744]|not provided [RCV003229035] Chr1:3411483 [GRCh38]
Chr1:3328047 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.32(chr1:2694731-3190921)x3 copy number gain Intellectual disability [RCV001251058] Chr1:2694731..3190921 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686) copy number loss Harel-Yoon syndrome [RCV001254115] Chr1:762080..7309686 [GRCh37]
Chr1:1p36.33-36.23
likely pathogenic
GRCh37/hg19 1p36.32(chr1:3202162-4143527)x3 copy number gain not provided [RCV001260108] Chr1:3202162..4143527 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2595dup (p.Ile866fs) duplication Inborn genetic diseases [RCV001267598] Chr1:3412788..3412789 [GRCh38]
Chr1:3329352..3329353 [GRCh37]
Chr1:1p36.32
pathogenic|uncertain significance
NM_022114.4(PRDM16):c.1807G>A (p.Asp603Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV002072317]|not provided [RCV001580847] Chr1:3412004 [GRCh38]
Chr1:3328568 [GRCh37]
Chr1:1p36.32
likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1 copy number loss not provided [RCV001260116] Chr1:1..5592835 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_022114.4(PRDM16):c.1484C>A (p.Pro495Gln) single nucleotide variant not provided [RCV001528598] Chr1:3411681 [GRCh38]
Chr1:3328245 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.10:g.(?_2985804)_(2985880_?)dup duplication Left ventricular noncompaction 8 [RCV001325529] Chr1:2985804..2985880 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3307G>A (p.Gly1103Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001298072]|not provided [RCV001751568] Chr1:3430894 [GRCh38]
Chr1:3347458 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.535G>A (p.Asp179Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV001319116]|PRDM16-related disorder [RCV003953659]|not provided [RCV001773636] Chr1:3385248 [GRCh38]
Chr1:3301812 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3743C>A (p.Thr1248Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV001308637] Chr1:3433723 [GRCh38]
Chr1:3350287 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.10:g.(?_3102679)_(3160711_?)dup duplication Left ventricular noncompaction 8 [RCV001296585] Chr1:3102679..3160711 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2056A>G (p.Thr686Ala) single nucleotide variant Left ventricular noncompaction 8 [RCV001319833]|not specified [RCV003331113] Chr1:3412253 [GRCh38]
Chr1:3328817 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.431T>A (p.Ile144Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV001306237] Chr1:3244130 [GRCh38]
Chr1:3160694 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1012G>A (p.Glu338Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV001318239] Chr1:3404866 [GRCh38]
Chr1:3321430 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2442C>A (p.Ser814Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV001342078] Chr1:3412639 [GRCh38]
Chr1:3329203 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2264C>A (p.Pro755Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV001321185] Chr1:3412461 [GRCh38]
Chr1:3329025 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2133G>T (p.Met711Ile) single nucleotide variant Left ventricular noncompaction 8 [RCV001315571] Chr1:3412330 [GRCh38]
Chr1:3328894 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1484C>T (p.Pro495Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001349846]|PRDM16-related disorder [RCV003399139] Chr1:3411681 [GRCh38]
Chr1:3328245 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1801G>A (p.Gly601Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001306588] Chr1:3411998 [GRCh38]
Chr1:3328562 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.922G>A (p.Glu308Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV001295212] Chr1:3404776 [GRCh38]
Chr1:3321340 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.412T>C (p.Ser138Pro) single nucleotide variant Left ventricular noncompaction 8 [RCV001296990] Chr1:3244111 [GRCh38]
Chr1:3160675 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.921C>T (p.Arg307=) single nucleotide variant Left ventricular noncompaction 8 [RCV001305106] Chr1:3404775 [GRCh38]
Chr1:3321339 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.3268A>G (p.Thr1090Ala) single nucleotide variant Left ventricular noncompaction 8 [RCV001372627] Chr1:3426209 [GRCh38]
Chr1:3342773 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3110T>C (p.Val1037Ala) single nucleotide variant Left ventricular noncompaction 8 [RCV001363460] Chr1:3426051 [GRCh38]
Chr1:3342615 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3491C>T (p.Ser1164Phe) single nucleotide variant Left ventricular noncompaction 8 [RCV001368797] Chr1:3431078 [GRCh38]
Chr1:3347642 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2992G>A (p.Val998Ile) single nucleotide variant Inborn genetic diseases [RCV003246934]|Left ventricular noncompaction 8 [RCV001359031] Chr1:3425633 [GRCh38]
Chr1:3342197 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2702T>C (p.Ile901Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV001369927] Chr1:3417838 [GRCh38]
Chr1:3334402 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3393G>A (p.Glu1131=) single nucleotide variant Left ventricular noncompaction 8 [RCV001397070] Chr1:3430980 [GRCh38]
Chr1:3347544 [GRCh37]
Chr1:1p36.32
likely benign
NC_000001.10:g.(?_3313055)_(3313157_?)del deletion not specified [RCV001449755] Chr1:3313055..3313157 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3351C>T (p.Asp1117=) single nucleotide variant Left ventricular noncompaction 8 [RCV001422876] Chr1:3430938 [GRCh38]
Chr1:3347502 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2376C>T (p.Pro792=) single nucleotide variant Left ventricular noncompaction 8 [RCV001397586] Chr1:3412573 [GRCh38]
Chr1:3329137 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2275C>T (p.Arg759Trp) single nucleotide variant Left ventricular noncompaction 8 [RCV001315272] Chr1:3412472 [GRCh38]
Chr1:3329036 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1555C>T (p.Pro519Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001344653] Chr1:3411752 [GRCh38]
Chr1:3328316 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2161T>A (p.Tyr721Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV001364727] Chr1:3412358 [GRCh38]
Chr1:3328922 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1525G>A (p.Ala509Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV001346465] Chr1:3411722 [GRCh38]
Chr1:3328286 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2940-5T>G single nucleotide variant Left ventricular noncompaction 8 [RCV001306461] Chr1:3425576 [GRCh38]
Chr1:3342140 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.10:g.(?_3313045)_(3313167_?)del deletion Left ventricular noncompaction 8 [RCV001323943] Chr1:3313045..3313167 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3538G>A (p.Glu1180Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV001314635] Chr1:3431982 [GRCh38]
Chr1:3348546 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3370G>A (p.Asp1124Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV001299225]|not provided [RCV002462910] Chr1:3430957 [GRCh38]
Chr1:3347521 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.524C>T (p.Ala175Val) single nucleotide variant Left ventricular noncompaction 8 [RCV001346819] Chr1:3385237 [GRCh38]
Chr1:3301801 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3590A>G (p.Asp1197Gly) single nucleotide variant Left ventricular noncompaction 8 [RCV001343890] Chr1:3432034 [GRCh38]
Chr1:3348598 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.379G>A (p.Gly127Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV001302192] Chr1:3186466 [GRCh38]
Chr1:3103030 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1358C>T (p.Pro453Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001339135] Chr1:3411555 [GRCh38]
Chr1:3328119 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2905C>T (p.His969Tyr) single nucleotide variant Left ventricular noncompaction 8 [RCV001347628] Chr1:3418710 [GRCh38]
Chr1:3335274 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.811_841del (p.Glu271fs) deletion Left ventricular noncompaction 8 [RCV001361746] Chr1:3402918..3402948 [GRCh38]
Chr1:3319482..3319512 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1803C>T (p.Gly601=) single nucleotide variant Left ventricular noncompaction 8 [RCV001294581] Chr1:3412000 [GRCh38]
Chr1:3328564 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.3131T>C (p.Leu1044Pro) single nucleotide variant Left ventricular noncompaction 8 [RCV001324939] Chr1:3426072 [GRCh38]
Chr1:3342636 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1855A>T (p.Thr619Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001340106] Chr1:3412052 [GRCh38]
Chr1:3328616 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.518G>A (p.Arg173His) single nucleotide variant Left ventricular noncompaction 8 [RCV001305025] Chr1:3385231 [GRCh38]
Chr1:3301795 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1700A>G (p.Gln567Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV001344444] Chr1:3411897 [GRCh38]
Chr1:3328461 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2779C>A (p.His927Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV001327136]|not provided [RCV001773655] Chr1:3417915 [GRCh38]
Chr1:3334479 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3460G>A (p.Glu1154Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV001321199]|not provided [RCV003225177] Chr1:3431047 [GRCh38]
Chr1:3347611 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1070G>A (p.Arg357His) single nucleotide variant Left ventricular noncompaction 8 [RCV001341733] Chr1:3405532 [GRCh38]
Chr1:3322096 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2524G>C (p.Val842Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001304738] Chr1:3412721 [GRCh38]
Chr1:3329285 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1242del (p.Met415fs) deletion Left ventricular noncompaction 8 [RCV001306332] Chr1:3411438 [GRCh38]
Chr1:3328002 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.439-1G>C single nucleotide variant Left ventricular noncompaction 8 [RCV001315992] Chr1:3385151 [GRCh38]
Chr1:3301715 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3091G>A (p.Glu1031Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV001295347]|not provided [RCV002511071] Chr1:3425732 [GRCh38]
Chr1:3342296 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2066C>G (p.Ala689Gly) single nucleotide variant Left ventricular noncompaction 8 [RCV001369885] Chr1:3412263 [GRCh38]
Chr1:3328827 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.469T>A (p.Cys157Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001360050] Chr1:3385182 [GRCh38]
Chr1:3301746 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1738G>A (p.Glu580Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV001296086]|not provided [RCV002280174] Chr1:3411935 [GRCh38]
Chr1:3328499 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.390A>G (p.Gln130=) single nucleotide variant Left ventricular noncompaction 8 [RCV001351052] Chr1:3244089 [GRCh38]
Chr1:3160653 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2590G>A (p.Asp864Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV001370534] Chr1:3412787 [GRCh38]
Chr1:3329351 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.410T>A (p.Val137Glu) single nucleotide variant Left ventricular noncompaction 8 [RCV001366787] Chr1:3244109 [GRCh38]
Chr1:3160673 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2849G>C (p.Arg950Pro) single nucleotide variant Left ventricular noncompaction 8 [RCV001366885] Chr1:3417985 [GRCh38]
Chr1:3334549 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2491C>T (p.Arg831Cys) single nucleotide variant Left ventricular noncompaction 8 [RCV001367823]|not provided [RCV001562029] Chr1:3412688 [GRCh38]
Chr1:3329252 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1818C>T (p.Asp606=) single nucleotide variant Left ventricular noncompaction 8 [RCV001414045] Chr1:3412015 [GRCh38]
Chr1:3328579 [GRCh37]
Chr1:1p36.32
likely benign
NC_000001.10:g.(?_2957600)_(3350385_?)dup duplication Left ventricular noncompaction 8 [RCV001296584] Chr1:2957600..3350385 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2259_2260delinsTC (p.Glu754Gln) indel Left ventricular noncompaction 8 [RCV001360843] Chr1:3412456..3412457 [GRCh38]
Chr1:3329020..3329021 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3453C>T (p.Ala1151=) single nucleotide variant Left ventricular noncompaction 8 [RCV001413030]|PRDM16-related disorder [RCV003908602] Chr1:3431040 [GRCh38]
Chr1:3347604 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3428T>C (p.Val1143Ala) single nucleotide variant not provided [RCV001358249] Chr1:3431015 [GRCh38]
Chr1:3347579 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2034C>T (p.Pro678=) single nucleotide variant Left ventricular noncompaction 8 [RCV001495207] Chr1:3412231 [GRCh38]
Chr1:3328795 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2817C>T (p.Leu939=) single nucleotide variant Left ventricular noncompaction 8 [RCV001501837] Chr1:3417953 [GRCh38]
Chr1:3334517 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.882C>T (p.Tyr294=) single nucleotide variant Left ventricular noncompaction 8 [RCV001466813] Chr1:3402996 [GRCh38]
Chr1:3319560 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1326G>A (p.Arg442=) single nucleotide variant Left ventricular noncompaction 8 [RCV001470582] Chr1:3411523 [GRCh38]
Chr1:3328087 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.999C>T (p.Ser333=) single nucleotide variant Left ventricular noncompaction 8 [RCV001502438] Chr1:3404853 [GRCh38]
Chr1:3321417 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1446C>T (p.Ser482=) single nucleotide variant Left ventricular noncompaction 8 [RCV001405479] Chr1:3411643 [GRCh38]
Chr1:3328207 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3387C>T (p.Asp1129=) single nucleotide variant Left ventricular noncompaction 8 [RCV001452962] Chr1:3430974 [GRCh38]
Chr1:3347538 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.237G>T (p.Pro79=) single nucleotide variant Left ventricular noncompaction 8 [RCV001491794] Chr1:3186324 [GRCh38]
Chr1:3102888 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3153C>T (p.Ser1051=) single nucleotide variant Left ventricular noncompaction 8 [RCV001460803] Chr1:3426094 [GRCh38]
Chr1:3342658 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.762C>T (p.Gly254=) single nucleotide variant Left ventricular noncompaction 8 [RCV001500906]|not provided [RCV001571278] Chr1:3402876 [GRCh38]
Chr1:3319440 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1707G>A (p.Thr569=) single nucleotide variant Left ventricular noncompaction 8 [RCV001393626] Chr1:3411904 [GRCh38]
Chr1:3328468 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1800C>T (p.Asp600=) single nucleotide variant Left ventricular noncompaction 8 [RCV001452854] Chr1:3411997 [GRCh38]
Chr1:3328561 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3110-6C>T single nucleotide variant Left ventricular noncompaction 8 [RCV001497989] Chr1:3426045 [GRCh38]
Chr1:3342609 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3066C>T (p.Asn1022=) single nucleotide variant Left ventricular noncompaction 8 [RCV001404977] Chr1:3425707 [GRCh38]
Chr1:3342271 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.30A>G (p.Leu10=) single nucleotide variant Left ventricular noncompaction 8 [RCV001436690] Chr1:3069289 [GRCh38]
Chr1:2985853 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.399G>A (p.Thr133=) single nucleotide variant Left ventricular noncompaction 8 [RCV001439929] Chr1:3244098 [GRCh38]
Chr1:3160662 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2100C>G (p.Ala700=) single nucleotide variant Left ventricular noncompaction 8 [RCV001407605] Chr1:3412297 [GRCh38]
Chr1:3328861 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2358G>C (p.Leu786=) single nucleotide variant Left ventricular noncompaction 8 [RCV001447375] Chr1:3412555 [GRCh38]
Chr1:3329119 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.954C>T (p.Phe318=) single nucleotide variant Left ventricular noncompaction 8 [RCV001405704] Chr1:3404808 [GRCh38]
Chr1:3321372 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1611C>T (p.Ser537=) single nucleotide variant Left ventricular noncompaction 8 [RCV001401303] Chr1:3411808 [GRCh38]
Chr1:3328372 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1530C>G (p.Leu510=) single nucleotide variant Left ventricular noncompaction 8 [RCV001445480] Chr1:3411727 [GRCh38]
Chr1:3328291 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3198C>T (p.Asp1066=) single nucleotide variant Left ventricular noncompaction 8 [RCV001448253] Chr1:3426139 [GRCh38]
Chr1:3342703 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2413C>T (p.Leu805=) single nucleotide variant Left ventricular noncompaction 8 [RCV001419658] Chr1:3412610 [GRCh38]
Chr1:3329174 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3026A>G (p.Lys1009Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV001882700]|not provided [RCV001581489] Chr1:3425667 [GRCh38]
Chr1:3342231 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.388-8T>C single nucleotide variant Left ventricular noncompaction 8 [RCV001411627] Chr1:3244079 [GRCh38]
Chr1:3160643 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1032+9C>T single nucleotide variant Left ventricular noncompaction 8 [RCV001450200] Chr1:3404895 [GRCh38]
Chr1:3321459 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2493C>A (p.Arg831=) single nucleotide variant Left ventricular noncompaction 8 [RCV001457727] Chr1:3412690 [GRCh38]
Chr1:3329254 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1074G>T (p.Ser358=) single nucleotide variant Left ventricular noncompaction 8 [RCV001479297] Chr1:3405536 [GRCh38]
Chr1:3322100 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3163C>G (p.Pro1055Ala) single nucleotide variant not provided [RCV001699724] Chr1:3426104 [GRCh38]
Chr1:3342668 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3288G>A (p.Ala1096=) single nucleotide variant Left ventricular noncompaction 8 [RCV002538635]|not provided [RCV001726650]|not specified [RCV001699857] Chr1:3430875 [GRCh38]
Chr1:3347439 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.38-37C>T single nucleotide variant not provided [RCV001582147] Chr1:3186088 [GRCh38]
Chr1:3102652 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.439-16G>A single nucleotide variant Left ventricular noncompaction 8 [RCV002077129]|not provided [RCV001699654] Chr1:3385136 [GRCh38]
Chr1:3301700 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2577G>A (p.Ser859=) single nucleotide variant Left ventricular noncompaction 8 [RCV001476830] Chr1:3412774 [GRCh38]
Chr1:3329338 [GRCh37]
Chr1:1p36.32
likely benign
GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV001535693] Chr1:2420003..8155935 [GRCh37]
Chr1:1p36.32-36.23
not provided
NM_022114.4(PRDM16):c.1098C>T (p.His366=) single nucleotide variant Left ventricular noncompaction 8 [RCV001487536] Chr1:3405560 [GRCh38]
Chr1:3322124 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3564G>A (p.Pro1188=) single nucleotide variant Left ventricular noncompaction 8 [RCV001500934] Chr1:3432008 [GRCh38]
Chr1:3348572 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.810C>G (p.Pro270=) single nucleotide variant Left ventricular noncompaction 8 [RCV001501075] Chr1:3402924 [GRCh38]
Chr1:3319488 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2457G>A (p.Gly819=) single nucleotide variant Left ventricular noncompaction 8 [RCV001487011] Chr1:3412654 [GRCh38]
Chr1:3329218 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2772C>G (p.Pro924=) single nucleotide variant Left ventricular noncompaction 8 [RCV001428564] Chr1:3417908 [GRCh38]
Chr1:3334472 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1470C>T (p.Pro490=) single nucleotide variant Left ventricular noncompaction 8 [RCV001470119] Chr1:3411667 [GRCh38]
Chr1:3328231 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1242G>C (p.Arg414=) single nucleotide variant Left ventricular noncompaction 8 [RCV001405766] Chr1:3411439 [GRCh38]
Chr1:3328003 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1665C>A (p.Ala555=) single nucleotide variant Left ventricular noncompaction 8 [RCV001453280]|PRDM16-related disorder [RCV003955988]|not provided [RCV001724322]|not specified [RCV001700750] Chr1:3411862 [GRCh38]
Chr1:3328426 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.2916G>A (p.Thr972=) single nucleotide variant Left ventricular noncompaction 8 [RCV001503174] Chr1:3418721 [GRCh38]
Chr1:3335285 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2535G>C (p.Ala845=) single nucleotide variant Left ventricular noncompaction 8 [RCV001491233] Chr1:3412732 [GRCh38]
Chr1:3329296 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3459C>T (p.Tyr1153=) single nucleotide variant Left ventricular noncompaction 8 [RCV001458710] Chr1:3431046 [GRCh38]
Chr1:3347610 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2421C>T (p.Ile807=) single nucleotide variant Left ventricular noncompaction 8 [RCV001471448] Chr1:3412618 [GRCh38]
Chr1:3329182 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1152C>T (p.His384=) single nucleotide variant Left ventricular noncompaction 8 [RCV001461716] Chr1:3405614 [GRCh38]
Chr1:3322178 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2764C>T (p.Leu922=) single nucleotide variant Left ventricular noncompaction 8 [RCV001427657] Chr1:3417900 [GRCh38]
Chr1:3334464 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1233G>C (p.Arg411=) single nucleotide variant Left ventricular noncompaction 8 [RCV001503749] Chr1:3411430 [GRCh38]
Chr1:3327994 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.42C>T (p.Asp14=) single nucleotide variant Left ventricular noncompaction 8 [RCV001400064] Chr1:3186129 [GRCh38]
Chr1:3102693 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3210C>T (p.Asp1070=) single nucleotide variant Left ventricular noncompaction 8 [RCV001393485]|not provided [RCV003405640] Chr1:3426151 [GRCh38]
Chr1:3342715 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.267C>T (p.Ser89=) single nucleotide variant Left ventricular noncompaction 8 [RCV001479408] Chr1:3186354 [GRCh38]
Chr1:3102918 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3471G>A (p.Glu1157=) single nucleotide variant Left ventricular noncompaction 8 [RCV001424605] Chr1:3431058 [GRCh38]
Chr1:3347622 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.28C>T (p.Leu10=) single nucleotide variant Left ventricular noncompaction 8 [RCV001405390] Chr1:3069287 [GRCh38]
Chr1:2985851 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1062G>A (p.Arg354=) single nucleotide variant Left ventricular noncompaction 8 [RCV001505846] Chr1:3405524 [GRCh38]
Chr1:3322088 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2939+11C>T single nucleotide variant Left ventricular noncompaction 8 [RCV003107016] Chr1:3418755 [GRCh38]
Chr1:3335319 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.746A>G (p.Lys249Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV002034459]|not provided [RCV001760788] Chr1:3402860 [GRCh38]
Chr1:3319424 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.334C>T (p.Pro112Ser) single nucleotide variant not provided [RCV001761168] Chr1:3186421 [GRCh38]
Chr1:3102985 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.880T>C (p.Tyr294His) single nucleotide variant Left ventricular noncompaction 8 [RCV001861071]|not provided [RCV001752139] Chr1:3402994 [GRCh38]
Chr1:3319558 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2239C>G (p.His747Asp) single nucleotide variant not provided [RCV001767405] Chr1:3412436 [GRCh38]
Chr1:3329000 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3569C>T (p.Pro1190Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV003741276]|not provided [RCV001773338] Chr1:3432013 [GRCh38]
Chr1:3348577 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.403G>C (p.Val135Leu) single nucleotide variant not provided [RCV001773348] Chr1:3244102 [GRCh38]
Chr1:3160666 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2392G>A (p.Gly798Ser) single nucleotide variant Inborn genetic diseases [RCV004040172]|Left ventricular noncompaction 8 [RCV002034480]|not provided [RCV001773956] Chr1:3412589 [GRCh38]
Chr1:3329153 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.3532G>T (p.Asp1178Tyr) single nucleotide variant not provided [RCV001764005] Chr1:3431976 [GRCh38]
Chr1:3348540 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2035G>C (p.Asp679His) single nucleotide variant not provided [RCV001767241] Chr1:3412232 [GRCh38]
Chr1:3328796 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1000G>A (p.Gly334Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV003741272]|not provided [RCV001767469] Chr1:3404854 [GRCh38]
Chr1:3321418 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3103G>T (p.Ala1035Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV002543958]|not provided [RCV001751893] Chr1:3425744 [GRCh38]
Chr1:3342308 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1 copy number loss not provided [RCV001795535] Chr1:753552..4034574 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
NM_022114.4(PRDM16):c.1247A>G (p.His416Arg) single nucleotide variant not provided [RCV001765103] Chr1:3411444 [GRCh38]
Chr1:3328008 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1826C>T (p.Thr609Ile) single nucleotide variant not provided [RCV001765490] Chr1:3412023 [GRCh38]
Chr1:3328587 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3431C>A (p.Ser1144Tyr) single nucleotide variant Left ventricular noncompaction 8 [RCV002544064]|not provided [RCV001765364] Chr1:3431018 [GRCh38]
Chr1:3347582 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1976C>T (p.Pro659Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001868520]|not provided [RCV001752606] Chr1:3412173 [GRCh38]
Chr1:3328737 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.561G>C (p.Gln187His) single nucleotide variant not provided [RCV001774313] Chr1:3385274 [GRCh38]
Chr1:3301838 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.848G>A (p.Cys283Tyr) single nucleotide variant not provided [RCV001770723] Chr1:3402962 [GRCh38]
Chr1:3319526 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3134C>T (p.Thr1045Met) single nucleotide variant not provided [RCV001774726] Chr1:3426075 [GRCh38]
Chr1:3342639 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.787G>A (p.Gly263Ser) single nucleotide variant PRDM16-related disorder [RCV003401697]|not provided [RCV001765819] Chr1:3402901 [GRCh38]
Chr1:3319465 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3143T>C (p.Leu1048Pro) single nucleotide variant Left ventricular noncompaction 8 [RCV003771967]|not provided [RCV001760775] Chr1:3426084 [GRCh38]
Chr1:3342648 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1725del (p.Glu576fs) deletion Left ventricular noncompaction 8 [RCV001782681] Chr1:3411920 [GRCh38]
Chr1:3328484 [GRCh37]
Chr1:1p36.32
likely pathogenic
NM_022114.4(PRDM16):c.176A>G (p.Asp59Gly) single nucleotide variant not provided [RCV001756914] Chr1:3186263 [GRCh38]
Chr1:3102827 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2223G>A (p.Thr741=) single nucleotide variant Left ventricular noncompaction 8 [RCV002074011]|not provided [RCV001758364] Chr1:3412420 [GRCh38]
Chr1:3328984 [GRCh37]
Chr1:1p36.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.3137A>G (p.Asn1046Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001970602] Chr1:3426078 [GRCh38]
Chr1:3342642 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.134C>A (p.Pro45His) single nucleotide variant Left ventricular noncompaction 8 [RCV001987885]|not provided [RCV003235631] Chr1:3186221 [GRCh38]
Chr1:3102785 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2530C>A (p.Pro844Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV001950248] Chr1:3412727 [GRCh38]
Chr1:3329291 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2662C>T (p.Arg888Trp) single nucleotide variant Left ventricular noncompaction 8 [RCV001896923] Chr1:3414618 [GRCh38]
Chr1:3331182 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.5G>A (p.Arg2Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV001929443] Chr1:3069264 [GRCh38]
Chr1:2985828 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.32(chr1:2701630-3003490)x3 copy number gain not provided [RCV001827861] Chr1:2701630..3003490 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1032G>C (p.Lys344Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV001863824] Chr1:3404886 [GRCh38]
Chr1:3321450 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2038G>A (p.Glu680Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV002024396] Chr1:3412235 [GRCh38]
Chr1:3328799 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.10:g.(?_3102669)_(3103058_?)dup duplication Left ventricular noncompaction 8 [RCV002004474] Chr1:3102669..3103058 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2168C>T (p.Ser723Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001970976] Chr1:3412365 [GRCh38]
Chr1:3328929 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3820A>G (p.Asn1274Asp) single nucleotide variant Left ventricular noncompaction 8 [RCV001987345] Chr1:3433800 [GRCh38]
Chr1:3350364 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2344G>T (p.Val782Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV002008686] Chr1:3412541 [GRCh38]
Chr1:3329105 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.567T>G (p.Ser189Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV001950157] Chr1:3385280 [GRCh38]
Chr1:3301844 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.682C>G (p.Pro228Ala) single nucleotide variant Left ventricular noncompaction 8 [RCV002025699] Chr1:3402796 [GRCh38]
Chr1:3319360 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2456G>A (p.Gly819Glu) single nucleotide variant Left ventricular noncompaction 8 [RCV001909448] Chr1:3412653 [GRCh38]
Chr1:3329217 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3266C>T (p.Ser1089Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001912701] Chr1:3426207 [GRCh38]
Chr1:3342771 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1549A>G (p.Ile517Val) single nucleotide variant Left ventricular noncompaction 8 [RCV001890758] Chr1:3411746 [GRCh38]
Chr1:3328310 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1737C>G (p.Phe579Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001891894] Chr1:3411934 [GRCh38]
Chr1:3328498 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3542G>T (p.Gly1181Val) single nucleotide variant Left ventricular noncompaction 8 [RCV001892054] Chr1:3431986 [GRCh38]
Chr1:3348550 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1868C>T (p.Ser623Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001984728] Chr1:3412065 [GRCh38]
Chr1:3328629 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2169G>A (p.Ser723=) single nucleotide variant Left ventricular noncompaction 8 [RCV001913934] Chr1:3412366 [GRCh38]
Chr1:3328930 [GRCh37]
Chr1:1p36.32
conflicting interpretations of pathogenicity|uncertain significance
NM_022114.4(PRDM16):c.1930G>C (p.Glu644Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV001911554] Chr1:3412127 [GRCh38]
Chr1:3328691 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2302A>G (p.Ser768Gly) single nucleotide variant Left ventricular noncompaction 8 [RCV002005919] Chr1:3412499 [GRCh38]
Chr1:3329063 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1475G>A (p.Arg492Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV001927368] Chr1:3411672 [GRCh38]
Chr1:3328236 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.470G>C (p.Cys157Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001872652] Chr1:3385183 [GRCh38]
Chr1:3301747 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2428C>T (p.Arg810Trp) single nucleotide variant Left ventricular noncompaction 8 [RCV001912880]|not provided [RCV003738111] Chr1:3412625 [GRCh38]
Chr1:3329189 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3248G>C (p.Ser1083Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV001892938] Chr1:3426189 [GRCh38]
Chr1:3342753 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2444A>G (p.Gln815Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV001908694] Chr1:3412641 [GRCh38]
Chr1:3329205 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2132T>A (p.Met711Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV002004565] Chr1:3412329 [GRCh38]
Chr1:3328893 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2835G>T (p.Arg945Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001969346] Chr1:3417971 [GRCh38]
Chr1:3334535 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13
pathogenic
NM_022114.4(PRDM16):c.3222G>A (p.Ser1074=) single nucleotide variant Left ventricular noncompaction 8 [RCV001870800] Chr1:3426163 [GRCh38]
Chr1:3342727 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.460G>A (p.Glu154Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV001985738] Chr1:3385173 [GRCh38]
Chr1:3301737 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.10:g.(?_989123)_(3160711_?)del deletion Left ventricular noncompaction 8 [RCV002004579] Chr1:989123..3160711 [GRCh37]
Chr1:1p36.33-36.32
uncertain significance
NM_022114.4(PRDM16):c.1996C>G (p.Pro666Ala) single nucleotide variant Left ventricular noncompaction 8 [RCV001872718] Chr1:3412193 [GRCh38]
Chr1:3328757 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.590T>G (p.Ile197Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV002023033] Chr1:3396507 [GRCh38]
Chr1:3313071 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1788C>G (p.Ser596Arg) single nucleotide variant Primary dilated cardiomyopathy [RCV002052290] Chr1:3411985 [GRCh38]
Chr1:3328549 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1726GAG[1] (p.Glu577del) microsatellite Left ventricular noncompaction 8 [RCV002023730] Chr1:3411923..3411925 [GRCh38]
Chr1:3328487..3328489 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.934G>T (p.Asp312Tyr) single nucleotide variant Left ventricular noncompaction 8 [RCV001908839] Chr1:3404788 [GRCh38]
Chr1:3321352 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2459G>A (p.Arg820Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV001927947] Chr1:3412656 [GRCh38]
Chr1:3329220 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2604-16C>T single nucleotide variant Left ventricular noncompaction 8 [RCV002084620] Chr1:3414544 [GRCh38]
Chr1:3331108 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3290A>G (p.Asp1097Gly) single nucleotide variant Left ventricular noncompaction 8 [RCV002020044] Chr1:3430877 [GRCh38]
Chr1:3347441 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1355C>T (p.Thr452Met) single nucleotide variant Inborn genetic diseases [RCV004042639]|Left ventricular noncompaction 8 [RCV001903431] Chr1:3411552 [GRCh38]
Chr1:3328116 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1927G>A (p.Ala643Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV002016528] Chr1:3412124 [GRCh38]
Chr1:3328688 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1196G>A (p.Cys399Tyr) single nucleotide variant Left ventricular noncompaction 8 [RCV002036581] Chr1:3411393 [GRCh38]
Chr1:3327957 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3369_3389del (p.Asp1124_Asp1130del) deletion Left ventricular noncompaction 8 [RCV001962129] Chr1:3430944..3430964 [GRCh38]
Chr1:3347508..3347528 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3044G>A (p.Arg1015His) single nucleotide variant Left ventricular noncompaction 8 [RCV001943409] Chr1:3425685 [GRCh38]
Chr1:3342249 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2200C>T (p.Pro734Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV002001016] Chr1:3412397 [GRCh38]
Chr1:3328961 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2894A>G (p.Asn965Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001961665] Chr1:3418699 [GRCh38]
Chr1:3335263 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1829C>T (p.Thr610Ile) single nucleotide variant Left ventricular noncompaction 8 [RCV001998723] Chr1:3412026 [GRCh38]
Chr1:3328590 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3563C>A (p.Pro1188Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV001902950] Chr1:3432007 [GRCh38]
Chr1:3348571 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2435G>A (p.Arg812His) single nucleotide variant Left ventricular noncompaction 8 [RCV001883061] Chr1:3412632 [GRCh38]
Chr1:3329196 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1577C>T (p.Pro526Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001919106]|not provided [RCV002463069] Chr1:3411774 [GRCh38]
Chr1:3328338 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.387+3G>A single nucleotide variant Left ventricular noncompaction 8 [RCV001933698] Chr1:3186477 [GRCh38]
Chr1:3103041 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.776C>T (p.Ala259Val) single nucleotide variant Left ventricular noncompaction 8 [RCV001989884] Chr1:3402890 [GRCh38]
Chr1:3319454 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2458C>T (p.Arg820Trp) single nucleotide variant Left ventricular noncompaction 8 [RCV002048232] Chr1:3412655 [GRCh38]
Chr1:3329219 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1737C>A (p.Phe579Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV002016270] Chr1:3411934 [GRCh38]
Chr1:3328498 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1253A>G (p.Asp418Gly) single nucleotide variant Left ventricular noncompaction 8 [RCV001976921] Chr1:3411450 [GRCh38]
Chr1:3328014 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.911C>T (p.Thr304Met) single nucleotide variant Left ventricular noncompaction 8 [RCV002050963]|See cases [RCV002252709] Chr1:3404765 [GRCh38]
Chr1:3321329 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1366A>G (p.Ile456Val) single nucleotide variant Left ventricular noncompaction 8 [RCV001992558] Chr1:3411563 [GRCh38]
Chr1:3328127 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.10:g.(?_3102679)_(3350385_?)del deletion Left ventricular noncompaction 8 [RCV001990132] Chr1:3102679..3350385 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.823G>A (p.Gly275Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001954844] Chr1:3402937 [GRCh38]
Chr1:3319501 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.579C>G (p.Tyr193Ter) single nucleotide variant Left ventricular noncompaction 8 [RCV001903248] Chr1:3396496 [GRCh38]
Chr1:3313060 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3012G>T (p.Lys1004Asn) single nucleotide variant Left ventricular noncompaction 8 [RCV001915868] Chr1:3425653 [GRCh38]
Chr1:3342217 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.316G>A (p.Ala106Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV001936114] Chr1:3186403 [GRCh38]
Chr1:3102967 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1961_1970del (p.Ala654fs) deletion Left ventricular noncompaction 8 [RCV001866790] Chr1:3412156..3412165 [GRCh38]
Chr1:3328720..3328729 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3667C>T (p.His1223Tyr) single nucleotide variant Left ventricular noncompaction 8 [RCV001875655] Chr1:3432111 [GRCh38]
Chr1:3348675 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.994G>T (p.Asp332Tyr) single nucleotide variant Left ventricular noncompaction 8 [RCV001902372] Chr1:3404848 [GRCh38]
Chr1:3321412 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3212C>A (p.Ser1071Tyr) single nucleotide variant Left ventricular noncompaction 8 [RCV001973750] Chr1:3426153 [GRCh38]
Chr1:3342717 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2310G>C (p.Glu770Asp) single nucleotide variant Left ventricular noncompaction 8 [RCV001989521] Chr1:3412507 [GRCh38]
Chr1:3329071 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2594C>G (p.Pro865Arg) single nucleotide variant Left ventricular noncompaction 8 [RCV001916358] Chr1:3412791 [GRCh38]
Chr1:3329355 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.246A>G (p.Ala82=) single nucleotide variant Left ventricular noncompaction 8 [RCV001954253] Chr1:3186333 [GRCh38]
Chr1:3102897 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3103G>A (p.Ala1035Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV001957551]|not provided [RCV003126002] Chr1:3425744 [GRCh38]
Chr1:3342308 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3109+1G>C single nucleotide variant Left ventricular noncompaction 8 [RCV002036112] Chr1:3425751 [GRCh38]
Chr1:3342315 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.10:g.(?_955553)_(3350375_?)del deletion Left ventricular noncompaction 8 [RCV001955735] Chr1:955553..3350375 [GRCh37]
Chr1:1p36.33-36.32
uncertain significance
NM_022114.4(PRDM16):c.778C>T (p.Leu260Phe) single nucleotide variant Left ventricular noncompaction 8 [RCV001882311] Chr1:3402892 [GRCh38]
Chr1:3319456 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2749G>T (p.Asp917Tyr) single nucleotide variant Left ventricular noncompaction 8 [RCV001938571] Chr1:3417885 [GRCh38]
Chr1:3334449 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.649dup (p.Leu217fs) duplication Left ventricular noncompaction 8 [RCV001886246] Chr1:3396561..3396562 [GRCh38]
Chr1:3313125..3313126 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3475GAG[1] (p.Glu1160del) microsatellite Left ventricular noncompaction 8 [RCV001905979] Chr1:3431062..3431064 [GRCh38]
Chr1:3347626..3347628 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.445G>A (p.Glu149Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV001918410]|not provided [RCV002269376] Chr1:3385158 [GRCh38]
Chr1:3301722 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1478C>T (p.Pro493Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV001996722] Chr1:3411675 [GRCh38]
Chr1:3328239 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.493G>T (p.Ala165Ser) single nucleotide variant Left ventricular noncompaction 8 [RCV001933111] Chr1:3385206 [GRCh38]
Chr1:3301770 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.217T>G (p.Tyr73Asp) single nucleotide variant Left ventricular noncompaction 8 [RCV002028974] Chr1:3186304 [GRCh38]
Chr1:3102868 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2743A>C (p.Lys915Gln) single nucleotide variant Left ventricular noncompaction 8 [RCV001883558] Chr1:3417879 [GRCh38]
Chr1:3334443 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1377G>A (p.Pro459=) single nucleotide variant Left ventricular noncompaction 8 [RCV001923653]|not specified [RCV003331234] Chr1:3411574 [GRCh38]
Chr1:3328138 [GRCh37]
Chr1:1p36.32
likely benign|uncertain significance
NM_022114.4(PRDM16):c.709G>A (p.Glu237Lys) single nucleotide variant Left ventricular noncompaction 8 [RCV001999169] Chr1:3402823 [GRCh38]
Chr1:3319387 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2018C>T (p.Ser673Leu) single nucleotide variant Left ventricular noncompaction 8 [RCV002029224] Chr1:3412215 [GRCh38]
Chr1:3328779 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3379G>A (p.Glu1127Lys) single nucleotide variant Inborn genetic diseases [RCV004043604]|Left ventricular noncompaction 8 [RCV001930858] Chr1:3430966 [GRCh38]
Chr1:3347530 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2225A>G (p.Asp742Gly) single nucleotide variant Left ventricular noncompaction 8 [RCV001923877] Chr1:3412422 [GRCh38]
Chr1:3328986 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.1072T>A (p.Ser358Thr) single nucleotide variant Left ventricular noncompaction 8 [RCV002016984] Chr1:3405534 [GRCh38]
Chr1:3322098 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.472G>A (p.Val158Met) single nucleotide variant Left ventricular noncompaction 8 [RCV001979867] Chr1:3385185 [GRCh38]
Chr1:3301749 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.628G>A (p.Val210Met) single nucleotide variant Left ventricular noncompaction 8 [RCV001923935]|not provided [RCV003238880] Chr1:3396545 [GRCh38]
Chr1:3313109 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.10:g.(?_3102669)_(3301870_?)dup duplication Left ventricular noncompaction 8 [RCV001992478] Chr1:3102669..3301870 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3365A>G (p.Asp1122Gly) single nucleotide variant Left ventricular noncompaction 8 [RCV001951727] Chr1:3430952 [GRCh38]
Chr1:3347516 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.794C>T (p.Ala265Val) single nucleotide variant Left ventricular noncompaction 8 [RCV002019277] Chr1:3402908 [GRCh38]
Chr1:3319472 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3580A>G (p.Lys1194Glu) single nucleotide variant Left ventricular noncompaction 8 [RCV001980810] Chr1:3432024 [GRCh38]
Chr1:3348588 [GRCh37]
Chr1:1p36.32
uncertain significance
NC_000001.10:g.(?_861322)_(3768971_?)del deletion Combined immunodeficiency due to OX40 deficiency [RCV001919158]|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001923367]|Joubert syndrome 25 [RCV001923368]|Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [RCV001919159]|Peroxisome biogenesis disorder, complementation group 7 [RCV001919157]|not provided [RCV001943250] Chr1:861322..3768971 [GRCh37]
Chr1:1p36.33-36.32
pathogenic|uncertain significance|no classifications from unflagged records
NM_022114.4(PRDM16):c.2134C>G (p.Gln712Glu) single nucleotide variant Left ventricular noncompaction 8 [RCV001954612] Chr1:3412331 [GRCh38]
Chr1:3328895 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.2389T>C (p.Ser797Pro) single nucleotide variant Left ventricular noncompaction 8 [RCV001934244]|not provided [RCV002282657] Chr1:3412586 [GRCh38]
Chr1:3329150 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.449A>G (p.Asp150Gly) single nucleotide variant Left ventricular noncompaction 8 [RCV002029354] Chr1:3385162 [GRCh38]
Chr1:3301726 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3761T>C (p.Leu1254Pro) single nucleotide variant Left ventricular noncompaction 8 [RCV001977029] Chr1:3433741 [GRCh38]
Chr1:3350305 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3427G>A (p.Val1143Met) single nucleotide variant Left ventricular noncompaction 8 [RCV002051157] Chr1:3431014 [GRCh38]
Chr1:3347578 [GRCh37]
Chr1:1p36.32
uncertain significance
NM_022114.4(PRDM16):c.3090C>T (p.His1030=) single nucleotide variant Left ventricular noncompaction 8 [RCV002190291] Chr1:3425731 [GRCh38]
Chr1:3342295 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.237G>A (p.Pro79=) single nucleotide variant Left ventricular noncompaction 8 [RCV002130098] Chr1:3186324 [GRCh38]
Chr1:3102888 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1509G>A (p.Ala503=) single nucleotide variant Left ventricular noncompaction 8 [RCV002206059]|PRDM16-related disorder [RCV003978591] Chr1:3411706 [GRCh38]
Chr1:3328270 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1929C>T (p.Ala643=) single nucleotide variant Left ventricular noncompaction 8 [RCV002085950] Chr1:3412126 [GRCh38]
Chr1:3328690 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.677-9C>T single nucleotide variant Left ventricular noncompaction 8 [RCV002205881] Chr1:3402782 [GRCh38]
Chr1:3319346 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2088C>T (p.Ile696=) single nucleotide variant Left ventricular noncompaction 8 [RCV002145645] Chr1:3412285 [GRCh38]
Chr1:3328849 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2316C>T (p.Pro772=) single nucleotide variant Left ventricular noncompaction 8 [RCV002186802] Chr1:3412513 [GRCh38]
Chr1:3329077 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1392C>T (p.Thr464=) single nucleotide variant Left ventricular noncompaction 8 [RCV002104748] Chr1:3411589 [GRCh38]
Chr1:3328153 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.366G>A (p.Lys122=) single nucleotide variant Left ventricular noncompaction 8 [RCV002106792] Chr1:3186453 [GRCh38]
Chr1:3103017 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.884+13C>G single nucleotide variant Left ventricular noncompaction 8 [RCV002105300]|not specified [RCV004526181] Chr1:3403011 [GRCh38]
Chr1:3319575 [GRCh37]
Chr1:1p36.32
benign|likely benign
NM_022114.4(PRDM16):c.884+8_884+38del deletion Left ventricular noncompaction 8 [RCV002106301] Chr1:3403006..3403036 [GRCh38]
Chr1:3319570..3319600 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.884+33_884+94del deletion Left ventricular noncompaction 8 [RCV002189411] Chr1:3403006..3403067 [GRCh38]
Chr1:3319570..3319631 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2976G>A (p.Ser992=) single nucleotide variant Left ventricular noncompaction 8 [RCV002205207] Chr1:3425617 [GRCh38]
Chr1:3342181 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1506G>C (p.Thr502=) single nucleotide variant Left ventricular noncompaction 8 [RCV002091503] Chr1:3411703 [GRCh38]
Chr1:3328267 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.663G>A (p.Pro221=) single nucleotide variant Left ventricular noncompaction 8 [RCV002129590] Chr1:3396580 [GRCh38]
Chr1:3313144 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.318C>T (p.Ala106=) single nucleotide variant Left ventricular noncompaction 8 [RCV002207932] Chr1:3186405 [GRCh38]
Chr1:3102969 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.885-13G>A single nucleotide variant Left ventricular noncompaction 8 [RCV002188188] Chr1:3404726 [GRCh38]
Chr1:3321290 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2940-16C>A single nucleotide variant Left ventricular noncompaction 8 [RCV002089772] Chr1:3425565 [GRCh38]
Chr1:3342129 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.387+11G>A single nucleotide variant Left ventricular noncompaction 8 [RCV002104839] Chr1:3186485 [GRCh38]
Chr1:3103049 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2175C>T (p.Phe725=) single nucleotide variant Left ventricular noncompaction 8 [RCV002146411] Chr1:3412372 [GRCh38]
Chr1:3328936 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.132G>A (p.Ser44=) single nucleotide variant Left ventricular noncompaction 8 [RCV002107341]|PRDM16-related disorder [RCV003893295] Chr1:3186219 [GRCh38]
Chr1:3102783 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3521+12C>T single nucleotide variant Left ventricular noncompaction 8 [RCV002075454] Chr1:3431120 [GRCh38]
Chr1:3347684 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3123C>T (p.Pro1041=) single nucleotide variant Left ventricular noncompaction 8 [RCV002130373] Chr1:3426064 [GRCh38]
Chr1:3342628 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3063C>T (p.Thr1021=) single nucleotide variant Left ventricular noncompaction 8 [RCV002210379] Chr1:3425704 [GRCh38]
Chr1:3342268 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1563C>G (p.Ser521=) single nucleotide variant Left ventricular noncompaction 8 [RCV002109059] Chr1:3411760 [GRCh38]
Chr1:3328324 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.204C>T (p.Tyr68=) single nucleotide variant Left ventricular noncompaction 8 [RCV002211718] Chr1:3186291 [GRCh38]
Chr1:3102855 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3109+11C>T single nucleotide variant Left ventricular noncompaction 8 [RCV002116464] Chr1:3425761 [GRCh38]
Chr1:3342325 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3105A>G (p.Ala1035=) single nucleotide variant Left ventricular noncompaction 8 [RCV002214936] Chr1:3425746 [GRCh38]
Chr1:3342310 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1869G>A (p.Ser623=) single nucleotide variant Left ventricular noncompaction 8 [RCV002147962] Chr1:3412066 [GRCh38]
Chr1:3328630 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.816C>T (p.Gly272=) single nucleotide variant Left ventricular noncompaction 8 [RCV002195185] Chr1:3402930 [GRCh38]
Chr1:3319494 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.438+13G>A single nucleotide variant Left ventricular noncompaction 8 [RCV002112949] Chr1:3244150 [GRCh38]
Chr1:3160714 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.438+19C>G single nucleotide variant Left ventricular noncompaction 8 [RCV002132419] Chr1:3244156 [GRCh38]
Chr1:3160720 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.884+15T>C single nucleotide variant Left ventricular noncompaction 8 [RCV002113233] Chr1:3403013 [GRCh38]
Chr1:3319577 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2265A>G (p.Pro755=) single nucleotide variant Left ventricular noncompaction 8 [RCV002079080] Chr1:3412462 [GRCh38]
Chr1:3329026 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.831C>T (p.Ser277=) single nucleotide variant Left ventricular noncompaction 8 [RCV002173119] Chr1:3402945 [GRCh38]
Chr1:3319509 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.38-20C>A single nucleotide variant Left ventricular noncompaction 8 [RCV002094420] Chr1:3186105 [GRCh38]
Chr1:3102669 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3714G>A (p.Leu1238=) single nucleotide variant Left ventricular noncompaction 8 [RCV002105531] Chr1:3433694 [GRCh38]
Chr1:3350258 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2724G>A (p.Leu908=) single nucleotide variant Left ventricular noncompaction 8 [RCV002151133] Chr1:3417860 [GRCh38]
Chr1:3334424 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.153G>A (p.Pro51=) single nucleotide variant Left ventricular noncompaction 8 [RCV002097475] Chr1:3186240 [GRCh38]
Chr1:3102804 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1170G>A (p.Thr390=) single nucleotide variant Left ventricular noncompaction 8 [RCV002151634]|not provided [RCV003408151] Chr1:3405632 [GRCh38]
Chr1:3322196 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.438+15C>T single nucleotide variant Left ventricular noncompaction 8 [RCV002167329] Chr1:3244152 [GRCh38]
Chr1:3160716 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.219C>T (p.Tyr73=) single nucleotide variant Left ventricular noncompaction 8 [RCV002129040] Chr1:3186306 [GRCh38]
Chr1:3102870 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3697-6C>T single nucleotide variant Left ventricular noncompaction 8 [RCV002116323] Chr1:3433671 [GRCh38]
Chr1:3350235 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.2667G>T (p.Pro889=) single nucleotide variant Left ventricular noncompaction 8 [RCV002152005] Chr1:3414623 [GRCh38]
Chr1:3331187 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3138C>T (p.Asn1046=) single nucleotide variant Left ventricular noncompaction 8 [RCV002087007] Chr1:3426079 [GRCh38]
Chr1:3342643 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1884C>T (p.Asp628=) single nucleotide variant Left ventricular noncompaction 8 [RCV002127985] Chr1:3412081 [GRCh38]
Chr1:3328645 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.378C>T (p.Phe126=) single nucleotide variant Left ventricular noncompaction 8 [RCV002131472] Chr1:3186465 [GRCh38]
Chr1:3103029 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.439-12109T>C single nucleotide variant Left ventricular noncompaction 8 [RCV002133309] Chr1:3373043 [GRCh38]
Chr1:3289607 [GRCh37]
Chr1:1p36.32
benign
NM_022114.4(PRDM16):c.3284+17G>C single nucleotide variant Left ventricular noncompaction 8 [RCV002166135] Chr1:3426242 [GRCh38]
Chr1:3342806 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3189A>G (p.Ala1063=) single nucleotide variant Left ventricular noncompaction 8 [RCV002211527] Chr1:3426130 [GRCh38]
Chr1:3342694 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.3156G>A (p.Ala1052=) single nucleotide variant Left ventricular noncompaction 8 [RCV002114107] Chr1:3426097 [GRCh38]
Chr1:3342661 [GRCh37]
Chr1:1p36.32
likely benign
NM_022114.4(PRDM16):c.1614C>A (p.Pro538=) single nucleotide variant Left ventricular noncompaction 8 [RCV002096228]|not provided [RCV003883768] Chr1:3411811