CERS1 (ceramide synthase 1) - Rat Genome Database

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Gene: CERS1 (ceramide synthase 1) Homo sapiens
Analyze
Symbol: CERS1
Name: ceramide synthase 1
RGD ID: 1314323
HGNC Page HGNC:14253
Description: Enables sphingosine N-acyltransferase activity. Involved in several processes, including cellular response to UV-A; cellular response to dithiothreitol; and cellular response to mycotoxin. Located in endoplasmic reticulum. Implicated in progressive myoclonus epilepsy 8.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Embryonic growth/differentiation factor 1; EPM8; GDF-1; GDF1; LAG1; LAG1 homolog, ceramide synthase 1; LAG1 homolog, ceramide synthase 1 (S. cerevisiae); LAG1 longevity assurance homolog 1; lag1 longevity assurance homolog 1 (s. cerevisiae); LASS1; longevity assurance (LAG1, S. cerevisiae) homolog 1; longevity assurance gene 1 protein homolog 1; MGC90349; protein UOG-1; sphingoid base N-stearoyltransferase CERS1; UOG1; upstream of GDF1
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
GRCh381918,868,545 - 18,896,982 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1918,868,545 - 18,896,727 (-)EnsemblGRCh38hg38GRCh38
GRCh371918,979,354 - 19,007,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361918,842,117 - 18,867,953 (-)NCBINCBI36Build 36hg18NCBI36
Build 341918,849,726 - 18,867,953NCBI
Celera1918,884,162 - 18,911,776 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1918,543,712 - 18,571,613 (-)NCBIHuRef
CHM1_11918,979,170 - 19,006,647 (-)NCBICHM1_1
T2T-CHM13v2.01919,004,162 - 19,032,606 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Downregulation of ceramide synthase 1 promotes oral cancer through endoplasmic reticulum stress. Chen W, etal., Int J Oral Sci. 2021 Mar 22;13(1):10. doi: 10.1038/s41368-021-00118-4.
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
7. CerS1-Derived C18:0 Ceramide in Skeletal Muscle Promotes Obesity-Induced Insulin Resistance. Turpin-Nolan SM, etal., Cell Rep. 2019 Jan 2;26(1):1-10.e7. doi: 10.1016/j.celrep.2018.12.031.
8. Fetal asphyxia induces acute and persisting changes in the ceramide metabolism in rat brain. Vlassaks E, etal., J Lipid Res. 2013 Jul;54(7):1825-33. doi: 10.1194/jlr.M034447. Epub 2013 Apr 26.
9. A deficiency of ceramide biosynthesis causes cerebellar purkinje cell neurodegeneration and lipofuscin accumulation. Zhao L, etal., PLoS Genet. 2011 May;7(5):e1002063. doi: 10.1371/journal.pgen.1002063. Epub 2011 May 19.
Additional References at PubMed
PMID:2034669   PMID:9872981   PMID:12105227   PMID:12477932   PMID:12869556   PMID:15057824   PMID:15317812   PMID:15489334   PMID:15823095   PMID:17548428   PMID:17699106   PMID:18541923  
PMID:19800881   PMID:20569235   PMID:21873635   PMID:21900206   PMID:22180294   PMID:22922758   PMID:23160995   PMID:24782409   PMID:26638075   PMID:26913518   PMID:28298427   PMID:31056421  
PMID:31073040   PMID:32707033   PMID:33267708   PMID:33961781   PMID:34079125   PMID:34186245   PMID:35007762   PMID:35337019   PMID:35696571   PMID:36114006   PMID:36215168   PMID:37046655  
PMID:37314216   PMID:37768083   PMID:38506902  


Genomics

Comparative Map Data
CERS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381918,868,545 - 18,896,982 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1918,868,545 - 18,896,727 (-)EnsemblGRCh38hg38GRCh38
GRCh371918,979,354 - 19,007,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361918,842,117 - 18,867,953 (-)NCBINCBI36Build 36hg18NCBI36
Build 341918,849,726 - 18,867,953NCBI
Celera1918,884,162 - 18,911,776 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1918,543,712 - 18,571,613 (-)NCBIHuRef
CHM1_11918,979,170 - 19,006,647 (-)NCBICHM1_1
T2T-CHM13v2.01919,004,162 - 19,032,606 (-)NCBIT2T-CHM13v2.0
Cers1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39870,768,425 - 70,784,238 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl870,768,425 - 70,784,242 (+)EnsemblGRCm39 Ensembl
GRCm38870,315,775 - 70,331,588 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl870,315,775 - 70,331,592 (+)EnsemblGRCm38mm10GRCm38
MGSCv37872,839,674 - 72,855,487 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36873,244,776 - 73,260,576 (+)NCBIMGSCv36mm8
Celera872,872,244 - 72,888,065 (+)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map834.15NCBI
Cers1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81619,131,271 - 19,146,480 (-)NCBIGRCr8
mRatBN7.21619,097,309 - 19,112,519 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1619,104,466 - 19,112,519 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1619,137,150 - 19,152,310 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01620,269,455 - 20,284,820 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01619,190,111 - 19,205,271 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01620,845,580 - 20,860,789 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1620,845,576 - 20,860,789 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01620,698,122 - 20,712,564 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41619,580,807 - 19,596,415 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11619,588,709 - 19,596,385 (-)NCBI
Celera1619,287,577 - 19,302,834 (-)NCBICelera
Cytogenetic Map16p14NCBI
Cers1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555242,788,653 - 2,796,370 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555242,788,672 - 2,798,068 (+)NCBIChiLan1.0ChiLan1.0
CERS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22023,731,595 - 23,758,078 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11922,737,809 - 22,764,286 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01918,308,265 - 18,334,892 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1 Ensembl1919,317,173 - 19,342,487 (-)Ensemblpanpan1.1panPan2
CERS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12044,216,568 - 44,231,820 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2044,131,420 - 44,140,737 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02044,702,943 - 44,712,260 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2044,701,496 - 44,718,307 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12043,940,230 - 43,949,547 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02044,350,440 - 44,359,760 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02044,625,909 - 44,635,225 (+)NCBIUU_Cfam_GSD_1.0
Cers1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118202,893,836 - 202,918,153 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365962,442,991 - 2,467,184 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365962,442,978 - 2,467,184 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CERS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl258,951,727 - 58,974,670 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1258,951,463 - 58,972,692 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2258,750,506 - 58,769,955 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CERS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1617,331,021 - 17,351,542 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660741,972,193 - 1,994,871 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cers1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249081,941,393 - 1,949,760 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249081,937,007 - 1,949,780 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.
Variants

.
Variants in CERS1
460 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001492.6(GDF1):c.985C>T (p.Pro329Ser) single nucleotide variant GDF1-related disorder [RCV003419979]|not provided [RCV002530186]|not specified [RCV004024189] Chr19:18868731 [GRCh38]
Chr19:18979540 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.120C>T (p.Leu40=) single nucleotide variant not provided [RCV002530182] Chr19:18870188 [GRCh38]
Chr19:18980997 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.658C>A (p.Arg220Ser) single nucleotide variant not provided [RCV002530183]|not specified [RCV004024188] Chr19:18869058 [GRCh38]
Chr19:18979867 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.1018C>G (p.Leu340Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000553878] Chr19:18870612 [GRCh38]
Chr19:18981421 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.788C>T (p.Pro263Leu) single nucleotide variant not provided [RCV002530184] Chr19:18868928 [GRCh38]
Chr19:18979737 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.1044CTT[1] (p.Phe350del) microsatellite Progressive myoclonic epilepsy type 8 [RCV001316710]|Visceral heterotaxy [RCV000545548] Chr19:18868667..18868669 [GRCh38]
Chr19:18979476..18979478 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.857C>T (p.Ala286Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000547849]|not specified [RCV004024317] Chr19:18879284 [GRCh38]
Chr19:18990093 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.906C>T (p.Ile302=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000542274] Chr19:18879034 [GRCh38]
Chr19:18989843 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.398C>T (p.Ser133Phe) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000557445] Chr19:18893427 [GRCh38]
Chr19:19004236 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.437G>A (p.Arg146Gln) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000545139] Chr19:18884240 [GRCh38]
Chr19:18995049 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.137G>C (p.Arg46Pro) single nucleotide variant Congenital heart defects, multiple types, 6 [RCV001196855] Chr19:18870171 [GRCh38]
Chr19:18980980 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11		 pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11		 pathogenic
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) single nucleotide variant Congenital heart defects, multiple types, 6 [RCV000007139]|GDF1-RELATED DISORDERS [RCV003335019]|GDF1-related disorder [RCV003407289]|Right atrial isomerism [RCV000055615]|Right atrial isomerism [RCV005025024]|Transposition of the great arteries [RCV004576881]|not provided [RCV000417815] Chr19:18869035 [GRCh38]
Chr19:18979844 [GRCh37]
Chr19:19p13.11		 pathogenic|likely pathogenic|likely benign
NM_001492.6(GDF1):c.800G>A (p.Cys267Tyr) single nucleotide variant Double outlet right ventricle [RCV000007140]|GDF1-related disorder [RCV003421909] Chr19:18868916 [GRCh38]
Chr19:18979725 [GRCh37]
Chr19:19p13.11		 pathogenic|uncertain significance
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp) single nucleotide variant GDF1-related disorder [RCV003924808]|Progressive myoclonic epilepsy type 8 [RCV005089199]|Tetralogy of Fallot [RCV000007141]|not provided [RCV000180221] Chr19:18869231 [GRCh38]
Chr19:18980040 [GRCh37]
Chr19:19p13.11		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001492.6(GDF1):c.-894A>G single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000534769]|not specified [RCV000125216] Chr19:18884248 [GRCh38]
Chr19:18995057 [GRCh37]
Chr19:19p13.11		 benign
NM_001492.6(GDF1):c.-422-11C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002055555]|not provided [RCV004717013]|not specified [RCV000125217] Chr19:18879050 [GRCh38]
Chr19:18989859 [GRCh37]
Chr19:19p13.11		 benign
NM_001492.6(GDF1):c.325+20G>A single nucleotide variant not provided [RCV002514671]|not specified [RCV000125218] Chr19:18869963 [GRCh38]
Chr19:18980772 [GRCh37]
Chr19:19p13.11		 benign
NM_001492.6(GDF1):c.-1089T>C single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001518081]|not provided [RCV001535130]|not specified [RCV000125219] Chr19:18895839 [GRCh38]
Chr19:19006648 [GRCh37]
Chr19:19p13.11		 benign
NM_001492.6(GDF1):c.909dup (p.Val304fs) duplication Right atrial isomerism [RCV000055616]|not provided [RCV001311505] Chr19:18868806..18868807 [GRCh38]
Chr19:18979615..18979616 [GRCh37]
Chr19:19p13.11		 pathogenic|likely pathogenic
NM_001492.5(GDF1):c.470_471insGGC (p.Ala158_Pro159insAla) insertion not specified [RCV000180220] Chr19:18869245..18869246 [GRCh38]
Chr19:18980054..18980055 [GRCh37]
Chr19:19p13.11		 benign
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12		 pathogenic|likely pathogenic
NM_021267.5(CERS1):c.549C>G (p.His183Gln) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000161146] Chr19:18884128 [GRCh38]
Chr19:18994937 [GRCh37]
Chr19:19p13.11		 pathogenic|not provided
NM_001492.6(GDF1):c.326-14T>C single nucleotide variant not provided [RCV001706151]|not specified [RCV000253466] Chr19:18869404 [GRCh38]
Chr19:18980213 [GRCh37]
Chr19:19p13.11		 benign|uncertain significance
NM_001492.6(GDF1):c.456GGC[6] (p.Ala158_Pro159insAla) microsatellite Progressive myoclonic epilepsy type 8 [RCV000860512]|Visceral heterotaxy [RCV000200398]|not provided [RCV001640299]|not specified [RCV000180220] Chr19:18869245..18869246 [GRCh38]
Chr19:18980054..18980055 [GRCh37]
Chr19:19p13.11		 benign
NM_021267.5(CERS1):c.37C>T (p.Pro13Ser) single nucleotide variant CERS1-related disorder [RCV003935533]|Progressive myoclonic epilepsy type 8 [RCV000547172]|not specified [RCV004024315] Chr19:18896036 [GRCh38]
Chr19:19006845 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_001492.6(GDF1):c.925T>C (p.Ser309Pro) single nucleotide variant GDF1-related disorder [RCV003947670]|not provided [RCV004701271]|not specified [RCV003323454] Chr19:18868791 [GRCh38]
Chr19:18979600 [GRCh37]
Chr19:19p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021267.5(CERS1):c.550G>T (p.Val184Leu) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000548766] Chr19:18884127 [GRCh38]
Chr19:18994936 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.450C>T (p.Ala150=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000559940]|not provided [RCV002275088] Chr19:18884227 [GRCh38]
Chr19:18995036 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_001492.6(GDF1):c.55C>G (p.Leu19Val) single nucleotide variant not provided [RCV000726820]|not specified [RCV000247373] Chr19:18870253 [GRCh38]
Chr19:18981062 [GRCh37]
Chr19:19p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001492.6(GDF1):c.-11C>T single nucleotide variant not specified [RCV000245588] Chr19:18870318 [GRCh38]
Chr19:18981127 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.353C>T (p.Ala118Val) single nucleotide variant not provided [RCV001668476]|not specified [RCV000245880] Chr19:18869363 [GRCh38]
Chr19:18980172 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_001492.6(GDF1):c.388G>A (p.Val130Ile) single nucleotide variant not provided [RCV002519909]|not specified [RCV000250832] Chr19:18869328 [GRCh38]
Chr19:18980137 [GRCh37]
Chr19:19p13.11		 benign
NM_001492.6(GDF1):c.780C>T (p.Gly260=) single nucleotide variant not provided [RCV000346250] Chr19:18868936 [GRCh38]
Chr19:18979745 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.203G>A (p.Arg68His) single nucleotide variant not provided [RCV000314910] Chr19:18870105 [GRCh38]
Chr19:18980914 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11		 pathogenic
NM_021267.5(CERS1):c.492C>T (p.Tyr164=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000533843]|not provided [RCV002263809] Chr19:18884185 [GRCh38]
Chr19:18994994 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_021267.5(CERS1):c.590+9A>G single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000527201] Chr19:18884078 [GRCh38]
Chr19:18994887 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.371G>T (p.Cys124Phe) single nucleotide variant not provided [RCV000441370] Chr19:18869345 [GRCh38]
Chr19:18980154 [GRCh37]
Chr19:19p13.11		 likely pathogenic
GRCh37/hg19 19p13.11(chr19:18136482-19087534)x3 copy number gain See cases [RCV000449006] Chr19:18136482..19087534 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.952G>A (p.Ala318Thr) single nucleotide variant not provided [RCV000481287] Chr19:18868764 [GRCh38]
Chr19:18979573 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_001492.6(GDF1):c.190C>T (p.Arg64Cys) single nucleotide variant not provided [RCV002523325]|not specified [RCV004917637] Chr19:18870118 [GRCh38]
Chr19:18980927 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs) deletion Congenital heart defects, multiple types, 6 [RCV002470862]|Right atrial isomerism [RCV005027530]|not provided [RCV000627519] Chr19:18868666..18868669 [GRCh38]
Chr19:18979475..18979478 [GRCh37]
Chr19:19p13.11		 pathogenic|likely pathogenic
NM_001492.6(GDF1):c.404C>T (p.Ala135Val) single nucleotide variant not provided [RCV003654374]|not specified [RCV004022812] Chr19:18869312 [GRCh38]
Chr19:18980121 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.401C>G (p.Ser134Trp) single nucleotide variant not provided [RCV000483872] Chr19:18869315 [GRCh38]
Chr19:18980124 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_001492.6(GDF1):c.-1107C>G single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001511468]|not provided [RCV004717606]|not specified [RCV000455238] Chr19:18895857 [GRCh38]
Chr19:19006666 [GRCh37]
Chr19:19p13.11		 benign
NM_001492.6(GDF1):c.153T>G (p.Gly51=) single nucleotide variant not provided [RCV003766632] Chr19:18870155 [GRCh38]
Chr19:18980964 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.537G>A (p.Gly179=) single nucleotide variant not provided [RCV002525682] Chr19:18869179 [GRCh38]
Chr19:18979988 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.599G>A (p.Gly200Asp) single nucleotide variant Right atrial isomerism [RCV002489069]|not provided [RCV002523326]|not specified [RCV004022811] Chr19:18869117 [GRCh38]
Chr19:18979926 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.776_801del (p.Leu259fs) deletion Right atrial isomerism [RCV003147471]|not provided [RCV000487281] Chr19:18868915..18868940 [GRCh38]
Chr19:18979724..18979749 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_021267.5(CERS1):c.898C>T (p.Leu300=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000527412]|not provided [RCV001572993] Chr19:18879243 [GRCh38]
Chr19:18990052 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr) single nucleotide variant Congenital heart defects, multiple types, 6 [RCV000625716]|Heart, malformation of [RCV001836851]|not provided [RCV000860460] Chr19:18868625 [GRCh38]
Chr19:18979434 [GRCh37]
Chr19:19p13.11		 pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity
NM_021267.5(CERS1):c.787G>A (p.Val263Ile) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000537513]|not provided [RCV001507431]|not specified [RCV004024316] Chr19:18879354 [GRCh38]
Chr19:18990163 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_001492.6(GDF1):c.1090_1092del (p.Met364del) deletion Right atrial isomerism [RCV000625715] Chr19:18868624..18868626 [GRCh38]
Chr19:18979433..18979435 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_021267.5(CERS1):c.782T>C (p.Leu261Pro) single nucleotide variant not specified [RCV004325772] Chr19:18879359 [GRCh38]
Chr19:18990168 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.329C>A (p.Ala110Glu) single nucleotide variant not specified [RCV004314159] Chr19:18869387 [GRCh38]
Chr19:18980196 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.258G>A (p.Ala86=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000532300] Chr19:18893567 [GRCh38]
Chr19:19004376 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.708T>A (p.His236Gln) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000652505]|not specified [RCV004025866] Chr19:18880318 [GRCh38]
Chr19:18991127 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.257C>T (p.Ala86Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000652506]|not provided [RCV001090560]|not specified [RCV004025867] Chr19:18893568 [GRCh38]
Chr19:19004377 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.16C>A (p.Pro6Thr) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000652507]|not provided [RCV004704171]|not specified [RCV004025868] Chr19:18896057 [GRCh38]
Chr19:19006866 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_021267.5(CERS1):c.164T>A (p.Leu55Gln) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000652508]|not specified [RCV004025869] Chr19:18895909 [GRCh38]
Chr19:19006718 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.559C>G (p.Leu187Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000652509] Chr19:18884118 [GRCh38]
Chr19:18994927 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.1011-2A>G single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000652510] Chr19:18870621 [GRCh38]
Chr19:18981430 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.901-3C>A single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000652511] Chr19:18879042 [GRCh38]
Chr19:18989851 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.178C>T (p.Leu60=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001438073] Chr19:18895895 [GRCh38]
Chr19:19006704 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.912C>G (p.Val304=) single nucleotide variant GDF1-related disorder [RCV003962558]|not provided [RCV002530185] Chr19:18868804 [GRCh38]
Chr19:18979613 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.477T>C (p.Tyr159=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000652512] Chr19:18884200 [GRCh38]
Chr19:18995009 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.834C>T (p.Ile278=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000652513] Chr19:18879307 [GRCh38]
Chr19:18990116 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.582C>T (p.Tyr194=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000652515]|not provided [RCV004704172] Chr19:18884095 [GRCh38]
Chr19:18994904 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.883T>A (p.Tyr295Asn) single nucleotide variant not provided [RCV002530530] Chr19:18868833 [GRCh38]
Chr19:18979642 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.549C>T (p.Leu183=) single nucleotide variant not provided [RCV002531933] Chr19:18869167 [GRCh38]
Chr19:18979976 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.330G>T (p.Ala110=) single nucleotide variant not provided [RCV002531934] Chr19:18869386 [GRCh38]
Chr19:18980195 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.326-8C>T single nucleotide variant not provided [RCV002531935] Chr19:18869398 [GRCh38]
Chr19:18980207 [GRCh37]
Chr19:19p13.11		 benign
NM_001492.6(GDF1):c.159C>T (p.Pro53=) single nucleotide variant not provided [RCV002531936] Chr19:18870149 [GRCh38]
Chr19:18980958 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.419C>T (p.Pro140Leu) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000700377] Chr19:18884258 [GRCh38]
Chr19:18995067 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.851T>C (p.Phe284Ser) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000699010] Chr19:18879290 [GRCh38]
Chr19:18990099 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.742G>A (p.Gly248Ser) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000688590] Chr19:18880284 [GRCh38]
Chr19:18991093 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.80C>T (p.Thr27Ile) single nucleotide variant not provided [RCV002536396] Chr19:18870228 [GRCh38]
Chr19:18981037 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.181C>A (p.Leu61Met) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000685750] Chr19:18895892 [GRCh38]
Chr19:19006701 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.685G>A (p.Gly229Ser) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000693046]|not provided [RCV004692124]|not specified [RCV004025142] Chr19:18880341 [GRCh38]
Chr19:18991150 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.23C>G (p.Ala8Gly) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000705623] Chr19:18896050 [GRCh38]
Chr19:19006859 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_021267.5(CERS1):c.534C>G (p.Val178=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001446675] Chr19:18884143 [GRCh38]
Chr19:18994952 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.876C>G (p.Thr292=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001440025] Chr19:18879265 [GRCh38]
Chr19:18990074 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.357G>A (p.Ser119=) single nucleotide variant not provided [RCV002536219]|not specified [RCV004800615] Chr19:18869359 [GRCh38]
Chr19:18980168 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_021267.5(CERS1):c.425T>A (p.Met142Lys) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000986206] Chr19:18884252 [GRCh38]
Chr19:18995061 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.663C>T (p.Leu221=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000924124] Chr19:18880363 [GRCh38]
Chr19:18991172 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.1029G>A (p.Ser343=) single nucleotide variant not provided [RCV005056646] Chr19:18868687 [GRCh38]
Chr19:18979496 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.410-10C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000878154] Chr19:18884277 [GRCh38]
Chr19:18995086 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.178C>G (p.Leu60Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001046911]|not specified [RCV004031458] Chr19:18895895 [GRCh38]
Chr19:19006704 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.912G>A (p.Ala304=) single nucleotide variant CERS1-related disorder [RCV003903093]|Progressive myoclonic epilepsy type 8 [RCV000932995] Chr19:18879028 [GRCh38]
Chr19:18989837 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.66A>G (p.Leu22=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000979453] Chr19:18896007 [GRCh38]
Chr19:19006816 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.1038C>T (p.Ser346=) single nucleotide variant not provided [RCV000875854] Chr19:18868678 [GRCh38]
Chr19:18979487 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.522G>A (p.Lys174=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002542165] Chr19:18884155 [GRCh38]
Chr19:18994964 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.752+9T>C single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002065493] Chr19:18880265 [GRCh38]
Chr19:18991074 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.300C>T (p.Pro100=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001487568] Chr19:18893525 [GRCh38]
Chr19:19004334 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.582G>A (p.Val194=) single nucleotide variant not provided [RCV000874890] Chr19:18869134 [GRCh38]
Chr19:18979943 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.189G>A (p.Trp63Ter) single nucleotide variant not provided [RCV002535951] Chr19:18870119 [GRCh38]
Chr19:18980928 [GRCh37]
Chr19:19p13.11		 pathogenic|likely pathogenic
NM_021267.5(CERS1):c.836C>G (p.Pro279Arg) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000820978] Chr19:18879305 [GRCh38]
Chr19:18990114 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.222C>G (p.Arg74=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000799742] Chr19:18895851 [GRCh38]
Chr19:19006660 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_021267.5(CERS1):c.557C>T (p.Thr186Ile) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000821365] Chr19:18884120 [GRCh38]
Chr19:18994929 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.5CGG[4] (p.Ala4_Gly5insAla) microsatellite Progressive myoclonic epilepsy type 8 [RCV000821760] Chr19:18896059..18896060 [GRCh38]
Chr19:19006868..19006869 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.274C>T (p.Gln92Ter) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000785041] Chr19:18893551 [GRCh38]
Chr19:19004360 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_021267.5(CERS1):c.248G>A (p.Arg83Gln) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000986207] Chr19:18895825 [GRCh38]
Chr19:19006634 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.575C>T (p.Ser192Phe) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000812549] Chr19:18884102 [GRCh38]
Chr19:18994911 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.989G>T (p.Ser330Ile) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000795450] Chr19:18878951 [GRCh38]
Chr19:18989760 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.1030C>T (p.Pro344Ser) single nucleotide variant not provided [RCV002534908] Chr19:18868686 [GRCh38]
Chr19:18979495 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.250C>A (p.Pro84Thr) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000797753]|not specified [RCV004897655] Chr19:18893575 [GRCh38]
Chr19:19004384 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000986205] Chr19:18879378 [GRCh38]
Chr19:18990187 [GRCh37]
Chr19:19p13.11		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001492.6(GDF1):c.367C>T (p.His123Tyr) single nucleotide variant not provided [RCV001090559] Chr19:18869349 [GRCh38]
Chr19:18980158 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.493G>A (p.Ala165Thr) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000810734]|not specified [RCV004609540] Chr19:18884184 [GRCh38]
Chr19:18994993 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.1075C>T (p.Arg359Trp) single nucleotide variant not provided [RCV002537431] Chr19:18868641 [GRCh38]
Chr19:18979450 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.523_586dup (p.Ala196fs) duplication Visceral heterotaxy [RCV000824223] Chr19:18869129..18869130 [GRCh38]
Chr19:18979938..18979939 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_001492.6(GDF1):c.185T>C (p.Met62Thr) single nucleotide variant not provided [RCV002536015] Chr19:18870123 [GRCh38]
Chr19:18980932 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.244T>C (p.Phe82Leu) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000806856] Chr19:18895829 [GRCh38]
Chr19:19006638 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.701G>A (p.Arg234Gln) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001067509]|not specified [RCV004030653] Chr19:18880325 [GRCh38]
Chr19:18991134 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.590+3A>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001202468] Chr19:18884084 [GRCh38]
Chr19:18994893 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.812G>C (p.Arg271Pro) single nucleotide variant not provided [RCV002568543] Chr19:18868904 [GRCh38]
Chr19:18979713 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.443T>C (p.Ile148Thr) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001242228]|not specified [RCV004609700] Chr19:18884234 [GRCh38]
Chr19:18995043 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.177G>C (p.Glu59Asp) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001222207] Chr19:18895896 [GRCh38]
Chr19:19006705 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.903C>A (p.Tyr301Ter) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001229311] Chr19:18879037 [GRCh38]
Chr19:18989846 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.772G>A (p.Val258Met) single nucleotide variant not specified [RCV004312945] Chr19:18868944 [GRCh38]
Chr19:18979753 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.436C>T (p.Arg146Trp) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001245814] Chr19:18884241 [GRCh38]
Chr19:18995050 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.637C>T (p.Leu213Phe) single nucleotide variant not provided [RCV003104857] Chr19:18869079 [GRCh38]
Chr19:18979888 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.586G>A (p.Ala196Thr) single nucleotide variant not provided [RCV003231924] Chr19:18869130 [GRCh38]
Chr19:18979939 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.570C>T (p.Ile190=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001415759] Chr19:18884107 [GRCh38]
Chr19:18994916 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.174C>G (p.Pro58=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000954383] Chr19:18895899 [GRCh38]
Chr19:19006708 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.306C>T (p.Ser102=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000914753] Chr19:18893519 [GRCh38]
Chr19:19004328 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.252C>T (p.Pro84=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001453438] Chr19:18893573 [GRCh38]
Chr19:19004382 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.498G>A (p.Thr166=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001394496] Chr19:18884179 [GRCh38]
Chr19:18994988 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.50C>T (p.Pro17Leu) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001236108] Chr19:18896023 [GRCh38]
Chr19:19006832 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.293A>G (p.Lys98Arg) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001220173]|not specified [RCV004609673] Chr19:18893532 [GRCh38]
Chr19:19004341 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.219_220insGGCTGGACCGCGCTG (p.Leu73_Arg74insGlyTrpThrAlaLeu) insertion Progressive myoclonic epilepsy type 8 [RCV001218296] Chr19:18895853..18895854 [GRCh38]
Chr19:19006662..19006663 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.900+8G>A single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001501800] Chr19:18879233 [GRCh38]
Chr19:18990042 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.417G>A (p.Thr139=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV000935788] Chr19:18884260 [GRCh38]
Chr19:18995069 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.289del (p.Val97fs) deletion not provided [RCV002553346] Chr19:18870019 [GRCh38]
Chr19:18980828 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_001492.6(GDF1):c.891G>C (p.Gln297His) single nucleotide variant not provided [RCV001723267] Chr19:18868825 [GRCh38]
Chr19:18979634 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.469_470insGCG (p.Ala156_Ala157insGly) insertion not provided [RCV001675100] Chr19:18869246..18869247 [GRCh38]
Chr19:18980055..18980056 [GRCh37]
Chr19:19p13.11		 benign
NM_001492.6(GDF1):c.380G>A (p.Trp127Ter) single nucleotide variant Congenital heart defects, multiple types, 6 [RCV001254622] Chr19:18869336 [GRCh38]
Chr19:18980145 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_001492.6(GDF1):c.667dup (p.Ala223fs) duplication not provided [RCV001169847] Chr19:18869048..18869049 [GRCh38]
Chr19:18979857..18979858 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_021267.5(CERS1):c.289G>A (p.Ala97Thr) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001049207] Chr19:18893536 [GRCh38]
Chr19:19004345 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.*151G>T single nucleotide variant not provided [RCV001541643] Chr19:18870426 [GRCh38]
Chr19:18981235 [GRCh37]
Chr19:19p13.11		 benign
NM_001492.6(GDF1):c.196T>C (p.Phe66Leu) single nucleotide variant not provided [RCV002555868] Chr19:18870112 [GRCh38]
Chr19:18980921 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.591-3C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001060385] Chr19:18880438 [GRCh38]
Chr19:18991247 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.95C>T (p.Ala32Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001235965] Chr19:18895978 [GRCh38]
Chr19:19006787 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.945C>G (p.His315Gln) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001213697] Chr19:18878995 [GRCh38]
Chr19:18989804 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.527C>G (p.Ser176Trp) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001057981]|not provided [RCV001507432] Chr19:18884150 [GRCh38]
Chr19:18994959 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.1028C>G (p.Ser343Trp) single nucleotide variant not provided [RCV002563787] Chr19:18868688 [GRCh38]
Chr19:18979497 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.779C>T (p.Pro260Leu) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001213402] Chr19:18879362 [GRCh38]
Chr19:18990171 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.458C>T (p.Ala153Val) single nucleotide variant not provided [RCV002553053] Chr19:18869258 [GRCh38]
Chr19:18980067 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.683G>A (p.Arg228His) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001213250] Chr19:18880343 [GRCh38]
Chr19:18991152 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.476A>G (p.Tyr159Cys) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001042103] Chr19:18884201 [GRCh38]
Chr19:18995010 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.787_814del (p.Pro263fs) deletion Inborn genetic diseases [RCV001266089] Chr19:18868902..18868929 [GRCh38]
Chr19:18979711..18979738 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_001492.6(GDF1):c.608G>A (p.Trp203Ter) single nucleotide variant Heterotaxy [RCV001732105]|Inborn genetic diseases [RCV001266629]|not provided [RCV001724281] Chr19:18869108 [GRCh38]
Chr19:18979917 [GRCh37]
Chr19:19p13.11		 pathogenic|likely pathogenic
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12		 pathogenic
NM_001492.6(GDF1):c.1040_1051dup (p.Phe350_Asp351insValLeuPhePhe) duplication not provided [RCV002541824] Chr19:18868664..18868665 [GRCh38]
Chr19:18979473..18979474 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.767A>G (p.Glu256Gly) single nucleotide variant not provided [RCV002547493] Chr19:18868949 [GRCh38]
Chr19:18979758 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.315C>G (p.Ile105Met) single nucleotide variant not provided [RCV002551063] Chr19:18869993 [GRCh38]
Chr19:18980802 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.701G>T (p.Arg234Leu) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001307385] Chr19:18880325 [GRCh38]
Chr19:18991134 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.550G>A (p.Val184Met) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001316843] Chr19:18884127 [GRCh38]
Chr19:18994936 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.18_29dup (p.Pro10_Thr11insAlaAlaGlyPro) duplication Progressive myoclonic epilepsy type 8 [RCV001317135] Chr19:18896043..18896044 [GRCh38]
Chr19:19006852..19006853 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.610C>G (p.Leu204Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001341798] Chr19:18880416 [GRCh38]
Chr19:18991225 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.821C>T (p.Thr274Met) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001339481]|not specified [RCV004035900] Chr19:18879320 [GRCh38]
Chr19:18990129 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.818G>A (p.Arg273His) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001316735] Chr19:18879323 [GRCh38]
Chr19:18990132 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.835C>G (p.Pro279Ala) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001327621] Chr19:18879306 [GRCh38]
Chr19:18990115 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.962G>A (p.Arg321Gln) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001338944] Chr19:18878978 [GRCh38]
Chr19:18989787 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.87C>G (p.Ser29Arg) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001296958] Chr19:18895986 [GRCh38]
Chr19:19006795 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.649C>G (p.Leu217Val) single nucleotide variant Congenital heart defects, multiple types, 6 [RCV001332016]|not provided [RCV002543239] Chr19:18869067 [GRCh38]
Chr19:18979876 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.173C>T (p.Pro58Leu) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001325875] Chr19:18895900 [GRCh38]
Chr19:19006709 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.830G>A (p.Arg277His) single nucleotide variant not provided [RCV002538490] Chr19:18868886 [GRCh38]
Chr19:18979695 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.688G>A (p.Gly230Ser) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001327025] Chr19:18880338 [GRCh38]
Chr19:18991147 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.12G>A (p.Ala4=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001396658] Chr19:18896061 [GRCh38]
Chr19:19006870 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.511A>G (p.Thr171Ala) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001370511] Chr19:18884166 [GRCh38]
Chr19:18994975 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.873C>G (p.Leu291=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001432986] Chr19:18879268 [GRCh38]
Chr19:18990077 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.997G>A (p.Asp333Asn) single nucleotide variant Congenital heart defects, multiple types, 6 [RCV001333949] Chr19:18868719 [GRCh38]
Chr19:18979528 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.71_72delinsCC (p.Gln24Pro) indel Progressive myoclonic epilepsy type 8 [RCV001362273] Chr19:18896001..18896002 [GRCh38]
Chr19:19006810..19006811 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.689G>C (p.Gly230Ala) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001320010] Chr19:18880337 [GRCh38]
Chr19:18991146 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.236G>A (p.Arg79Gln) single nucleotide variant not provided [RCV002547041] Chr19:18870072 [GRCh38]
Chr19:18980881 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.74G>A (p.Arg25His) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001343651] Chr19:18895999 [GRCh38]
Chr19:19006808 [GRCh37]
Chr19:19p13.11		 uncertain significance
NC_000019.9:g.(?_19004205)_(19006901_?)dup duplication Progressive myoclonic epilepsy type 8 [RCV001323937] Chr19:19004205..19006901 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.608T>C (p.Ile203Thr) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001317783] Chr19:18880418 [GRCh38]
Chr19:18991227 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.738C>G (p.Ser246Arg) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001324303] Chr19:18880288 [GRCh38]
Chr19:18991097 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.62_73del (p.Leu21_Leu24del) deletion not provided [RCV002547785] Chr19:18870235..18870246 [GRCh38]
Chr19:18981044..18981055 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.-3A>C single nucleotide variant not provided [RCV001311506] Chr19:18870310 [GRCh38]
Chr19:18981119 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.89C>T (p.Ala30Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001322709] Chr19:18895984 [GRCh38]
Chr19:19006793 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.1102G>A (p.Glu368Lys) single nucleotide variant not provided [RCV002539544]|not specified [RCV004036301] Chr19:18868614 [GRCh38]
Chr19:18979423 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.709G>A (p.Ala237Thr) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001350884] Chr19:18880317 [GRCh38]
Chr19:18991126 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.102_103insTCG (p.Ala34_Arg35insSer) insertion Progressive myoclonic epilepsy type 8 [RCV001359310] Chr19:18895970..18895971 [GRCh38]
Chr19:19006779..19006780 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.297A>G (p.Gly99=) single nucleotide variant not provided [RCV002563297] Chr19:18870011 [GRCh38]
Chr19:18980820 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.942G>A (p.Val314=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001495310] Chr19:18878998 [GRCh38]
Chr19:18989807 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.412C>A (p.Pro138Thr) single nucleotide variant not provided [RCV002555125]|not specified [RCV004038220] Chr19:18869304 [GRCh38]
Chr19:18980113 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_021267.5(CERS1):c.393A>G (p.Pro131=) single nucleotide variant CERS1-related disorder [RCV003948424]|Progressive myoclonic epilepsy type 8 [RCV001487604] Chr19:18893432 [GRCh38]
Chr19:19004241 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.528G>A (p.Ser176=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001473393] Chr19:18884149 [GRCh38]
Chr19:18994958 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.742dup (p.Leu248fs) duplication not provided [RCV002551561] Chr19:18868973..18868974 [GRCh38]
Chr19:18979782..18979783 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_021267.5(CERS1):c.750C>T (p.Ser250=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001496873] Chr19:18880276 [GRCh38]
Chr19:18991085 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.540G>T (p.Leu180=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001431141] Chr19:18884137 [GRCh38]
Chr19:18994946 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.958C>T (p.Leu320=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001503467] Chr19:18878982 [GRCh38]
Chr19:18989791 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.54C>T (p.Ala18=) single nucleotide variant not provided [RCV002555139] Chr19:18870254 [GRCh38]
Chr19:18981063 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.519C>A (p.Arg173=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001487558] Chr19:18884158 [GRCh38]
Chr19:18994967 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.1011-4C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001493153] Chr19:18870623 [GRCh38]
Chr19:18981432 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.1035G>A (p.Val345=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001487952] Chr19:18870595 [GRCh38]
Chr19:18981404 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.429A>C (p.Ala143=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001493497]|not provided [RCV003405688] Chr19:18884248 [GRCh38]
Chr19:18995057 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.903G>A (p.Ala301=) single nucleotide variant not provided [RCV002559334] Chr19:18868813 [GRCh38]
Chr19:18979622 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.741C>T (p.Pro247=) single nucleotide variant not provided [RCV002555530] Chr19:18868975 [GRCh38]
Chr19:18979784 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.1032G>A (p.Leu344=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001449244] Chr19:18870598 [GRCh38]
Chr19:18981407 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.531G>A (p.Val177=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001419183] Chr19:18884146 [GRCh38]
Chr19:18994955 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.702G>A (p.Arg234=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001445114] Chr19:18880324 [GRCh38]
Chr19:18991133 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.18C>G (p.Pro6=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001404309] Chr19:18896055 [GRCh38]
Chr19:19006864 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.591-6C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001486635] Chr19:18880441 [GRCh38]
Chr19:18991250 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.273C>G (p.Leu91=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001455240] Chr19:18893552 [GRCh38]
Chr19:19004361 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.901-4G>A single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001466354] Chr19:18879043 [GRCh38]
Chr19:18989852 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.627C>T (p.His209=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001470681] Chr19:18880399 [GRCh38]
Chr19:18991208 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.468G>A (p.Ala156=) single nucleotide variant not provided [RCV002562693] Chr19:18869248 [GRCh38]
Chr19:18980057 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.684C>T (p.Arg228=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001401173] Chr19:18880342 [GRCh38]
Chr19:18991151 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.45C>T (p.Pro15=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001468896] Chr19:18896028 [GRCh38]
Chr19:19006837 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.567C>T (p.Leu189=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001468653] Chr19:18884110 [GRCh38]
Chr19:18994919 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.264G>C (p.Arg88=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001458455] Chr19:18893561 [GRCh38]
Chr19:19004370 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.78G>C (p.Leu26=) single nucleotide variant GDF1-related disorder [RCV003938732]|not provided [RCV002555119] Chr19:18870230 [GRCh38]
Chr19:18981039 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.889C>T (p.Gln297Ter) single nucleotide variant not provided [RCV002551545] Chr19:18868827 [GRCh38]
Chr19:18979636 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_021267.5(CERS1):c.432G>A (p.Val144=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001503956] Chr19:18884245 [GRCh38]
Chr19:18995054 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.1104G>A (p.Glu368=) single nucleotide variant not provided [RCV002551610] Chr19:18868612 [GRCh38]
Chr19:18979421 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.1041G>T (p.Val347=) single nucleotide variant GDF1-related disorder [RCV003938681]|not provided [RCV002553396] Chr19:18868675 [GRCh38]
Chr19:18979484 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.*1120G>A single nucleotide variant Congenital heart defects, multiple types, 6 [RCV001733713] Chr19:18868865 [GRCh38]
Chr19:18979674 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_001492.6(GDF1):c.686G>C (p.Arg229Pro) single nucleotide variant not provided [RCV001771370] Chr19:18869030 [GRCh38]
Chr19:18979839 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.84_91del (p.Val31fs) deletion not provided [RCV001786933] Chr19:18870217..18870224 [GRCh38]
Chr19:18981026..18981033 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.339G>T (p.Arg113=) single nucleotide variant not provided [RCV001815853] Chr19:18869377 [GRCh38]
Chr19:18980186 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.182T>C (p.Leu61Pro) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001896197] Chr19:18895891 [GRCh38]
Chr19:19006700 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.476C>T (p.Pro159Leu) single nucleotide variant not provided [RCV002573385] Chr19:18869240 [GRCh38]
Chr19:18980049 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.262C>T (p.Arg88Trp) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002025035] Chr19:18893563 [GRCh38]
Chr19:19004372 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.158C>T (p.Ala53Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002025800] Chr19:18895915 [GRCh38]
Chr19:19006724 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.596T>C (p.Leu199Pro) single nucleotide variant Right atrial isomerism [RCV002503359]|not provided [RCV002545361] Chr19:18869120 [GRCh38]
Chr19:18979929 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.698A>G (p.His233Arg) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002025162] Chr19:18880328 [GRCh38]
Chr19:18991137 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.700C>G (p.Arg234Gly) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001864609] Chr19:18880326 [GRCh38]
Chr19:18991135 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.835C>A (p.Pro279Thr) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001982804]|not specified [RCV004043715] Chr19:18879306 [GRCh38]
Chr19:18990115 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.264dup (p.Pro89fs) duplication not provided [RCV001783358] Chr19:18870043..18870044 [GRCh38]
Chr19:18980852..18980853 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_021267.5(CERS1):c.305G>A (p.Ser102Asn) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002003202] Chr19:18893520 [GRCh38]
Chr19:19004329 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.579_678del (p.Val194fs) deletion not provided [RCV001782181] Chr19:18869038..18869137 [GRCh38]
Chr19:18979847..18979946 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_021267.5(CERS1):c.312del (p.Ala103_Trp104insTer) deletion Progressive myoclonic epilepsy type 8 [RCV002041401] Chr19:18893513 [GRCh38]
Chr19:19004322 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.30_38del (p.Thr11_Pro13del) deletion Progressive myoclonic epilepsy type 8 [RCV001895624] Chr19:18896035..18896043 [GRCh38]
Chr19:19006844..19006852 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.1016C>A (p.Pro339His) single nucleotide variant not provided [RCV002552322] Chr19:18868700 [GRCh38]
Chr19:18979509 [GRCh37]
Chr19:19p13.11		 uncertain significance
CERS1, ARG255CYS variation Progressive myoclonic epilepsy type 8 [RCV001849244]   pathogenic
NM_021267.5(CERS1):c.319C>G (p.Leu107Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001967896] Chr19:18893506 [GRCh38]
Chr19:19004315 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.470G>A (p.Ser157Asn) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002044441] Chr19:18884207 [GRCh38]
Chr19:18995016 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.900C>T (p.Cys300=) single nucleotide variant not provided [RCV002555791] Chr19:18868816 [GRCh38]
Chr19:18979625 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_001492.6(GDF1):c.796G>A (p.Ala266Thr) single nucleotide variant not provided [RCV002554160]|not specified [RCV003331223] Chr19:18868920 [GRCh38]
Chr19:18979729 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.709G>T (p.Ala237Ser) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001871271] Chr19:18880317 [GRCh38]
Chr19:18991126 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.974C>T (p.Thr325Ile) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001969726] Chr19:18878966 [GRCh38]
Chr19:18989775 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.1009G>C (p.Glu337Gln) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001985618] Chr19:18878931 [GRCh38]
Chr19:18989740 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.725T>C (p.Leu242Ser) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002006478] Chr19:18880301 [GRCh38]
Chr19:18991110 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.845T>A (p.Phe282Tyr) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001908695]|not specified [RCV004042549] Chr19:18879296 [GRCh38]
Chr19:18990105 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.408C>T (p.Tyr136=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001884137] Chr19:18893417 [GRCh38]
Chr19:19004226 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.626G>A (p.Trp209Ter) single nucleotide variant not provided [RCV002563633] Chr19:18869090 [GRCh38]
Chr19:18979899 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_001492.6(GDF1):c.765C>A (p.Ala255=) single nucleotide variant not provided [RCV002564448] Chr19:18868951 [GRCh38]
Chr19:18979760 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_021267.5(CERS1):c.1030C>G (p.Leu344Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001962254] Chr19:18870600 [GRCh38]
Chr19:18981409 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.911C>T (p.Ala304Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001925174]|not specified [RCV004611971] Chr19:18879029 [GRCh38]
Chr19:18989838 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.251G>A (p.Gly84Glu) single nucleotide variant not provided [RCV002579564] Chr19:18870057 [GRCh38]
Chr19:18980866 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.410-20_410-19del microsatellite Progressive myoclonic epilepsy type 8 [RCV001963213] Chr19:18884286..18884287 [GRCh38]
Chr19:18995095..18995096 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.18_29del (p.3AAGP[1]) deletion Progressive myoclonic epilepsy type 8 [RCV002038779] Chr19:18896044..18896055 [GRCh38]
Chr19:19006853..19006864 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.817C>T (p.Arg273Cys) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001998945] Chr19:18879324 [GRCh38]
Chr19:18990133 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.349G>T (p.Ala117Ser) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002029206]|not specified [RCV004046801] Chr19:18893476 [GRCh38]
Chr19:19004285 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.440A>G (p.Asp147Gly) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001991069] Chr19:18884237 [GRCh38]
Chr19:18995046 [GRCh37]
Chr19:19p13.11		 uncertain significance
NC_000019.9:g.(?_18893725)_(19312528_?)del deletion Progressive myoclonic epilepsy type 8 [RCV001955725] Chr19:18893725..19312528 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.465G>A (p.Ala155=) single nucleotide variant not provided [RCV002571377] Chr19:18869251 [GRCh38]
Chr19:18980060 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_021267.5(CERS1):c.797C>T (p.Ala266Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001935845]|not specified [RCV004897701] Chr19:18879344 [GRCh38]
Chr19:18990153 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.571G>A (p.Val191Ile) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001931350]|not provided [RCV002511116] Chr19:18884106 [GRCh38]
Chr19:18994915 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_021267.5(CERS1):c.46A>G (p.Met16Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002049611] Chr19:18896027 [GRCh38]
Chr19:19006836 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.715_716delinsTT (p.Ala239Leu) indel Progressive myoclonic epilepsy type 8 [RCV001902168] Chr19:18880310..18880311 [GRCh38]
Chr19:18991119..18991120 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.350C>T (p.Ala117Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002046017] Chr19:18893475 [GRCh38]
Chr19:19004284 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.1092G>A (p.Met364Ile) single nucleotide variant not provided [RCV002545522] Chr19:18868624 [GRCh38]
Chr19:18979433 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_021267.5(CERS1):c.572T>C (p.Val191Ala) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001918547] Chr19:18884105 [GRCh38]
Chr19:18994914 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.307G>T (p.Ala103Ser) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002027844] Chr19:18893518 [GRCh38]
Chr19:19004327 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.785A>G (p.Lys262Arg) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001866831] Chr19:18879356 [GRCh38]
Chr19:18990165 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.961C>T (p.Arg321Trp) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001866961] Chr19:18878979 [GRCh38]
Chr19:18989788 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.82G>A (p.Gly28Ser) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002017006]|not specified [RCV004897729] Chr19:18895991 [GRCh38]
Chr19:19006800 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.590G>A (p.Arg197Gln) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001916452] Chr19:18884087 [GRCh38]
Chr19:18994896 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.955G>A (p.Asp319Asn) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001957788] Chr19:18878985 [GRCh38]
Chr19:18989794 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.682C>T (p.Arg228Cys) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001900726]|not specified [RCV004040640] Chr19:18880344 [GRCh38]
Chr19:18991153 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.68T>C (p.Val23Ala) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001961113] Chr19:18896005 [GRCh38]
Chr19:19006814 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.211A>G (p.Thr71Ala) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001980244] Chr19:18895862 [GRCh38]
Chr19:19006671 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.637G>A (p.Asp213Asn) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002011132] Chr19:18880389 [GRCh38]
Chr19:18991198 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.263G>A (p.Arg88Gln) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002029514] Chr19:18893562 [GRCh38]
Chr19:19004371 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.356C>T (p.Ser119Leu) single nucleotide variant not provided [RCV002473328] Chr19:18869360 [GRCh38]
Chr19:18980169 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.830A>C (p.Asp277Ala) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001884064] Chr19:18879311 [GRCh38]
Chr19:18990120 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.410-6C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001998565] Chr19:18884273 [GRCh38]
Chr19:18995082 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.123C>G (p.Gly41=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001926028] Chr19:18895950 [GRCh38]
Chr19:19006759 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_001492.6(GDF1):c.1019C>G (p.Ala340Gly) single nucleotide variant not provided [RCV002545578] Chr19:18868697 [GRCh38]
Chr19:18979506 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.133G>C (p.Ala45Pro) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001881918]|not specified [RCV004611959] Chr19:18895940 [GRCh38]
Chr19:19006749 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.901-6T>A single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002010040] Chr19:18879045 [GRCh38]
Chr19:18989854 [GRCh37]
Chr19:19p13.11		 likely benign|uncertain significance
NM_021267.5(CERS1):c.158C>G (p.Ala53Gly) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001978347] Chr19:18895915 [GRCh38]
Chr19:19006724 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.505A>G (p.Met169Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV001916465] Chr19:18884172 [GRCh38]
Chr19:18994981 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.780G>T (p.Pro260=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002109863] Chr19:18879361 [GRCh38]
Chr19:18990170 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.66A>C (p.Leu22=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002074710] Chr19:18896007 [GRCh38]
Chr19:19006816 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.732C>T (p.Cys244=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002104668] Chr19:18880294 [GRCh38]
Chr19:18991103 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.1011-8del deletion Progressive myoclonic epilepsy type 8 [RCV002129037] Chr19:18870627 [GRCh38]
Chr19:18981436 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.591-15C>G single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002111485] Chr19:18880450 [GRCh38]
Chr19:18991259 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.717A>G (p.Ala239=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002108622] Chr19:18880309 [GRCh38]
Chr19:18991118 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.387T>C (p.His129=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002085718] Chr19:18893438 [GRCh38]
Chr19:19004247 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.9G>A (p.Ala3=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002112248] Chr19:18896064 [GRCh38]
Chr19:19006873 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.366G>A (p.Gly122=) single nucleotide variant not provided [RCV003007024] Chr19:18869350 [GRCh38]
Chr19:18980159 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.798C>T (p.Ala266=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002204916] Chr19:18879343 [GRCh38]
Chr19:18990152 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.590+15G>A single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002150753] Chr19:18884072 [GRCh38]
Chr19:18994881 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.294G>A (p.Lys98=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002112983]|not provided [RCV004704746] Chr19:18893531 [GRCh38]
Chr19:19004340 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.549C>T (p.His183=) single nucleotide variant CERS1-related disorder [RCV003960936]|Progressive myoclonic epilepsy type 8 [RCV002206475] Chr19:18884128 [GRCh38]
Chr19:18994937 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.816G>A (p.Leu272=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002190117] Chr19:18879325 [GRCh38]
Chr19:18990134 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.402C>A (p.Val134=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002172758] Chr19:18893423 [GRCh38]
Chr19:19004232 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.768C>A (p.Leu256=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002112853] Chr19:18879373 [GRCh38]
Chr19:18990182 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.409+7G>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002169998] Chr19:18893409 [GRCh38]
Chr19:19004218 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.780G>A (p.Pro260=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002077010] Chr19:18879361 [GRCh38]
Chr19:18990170 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.1010+19G>A single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002095839] Chr19:18878911 [GRCh38]
Chr19:18989720 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.790C>T (p.Leu264=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002071371] Chr19:18879351 [GRCh38]
Chr19:18990160 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.591-15C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002171541] Chr19:18880450 [GRCh38]
Chr19:18991259 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.1008C>T (p.Ala336=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002206065] Chr19:18878932 [GRCh38]
Chr19:18989741 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.990C>T (p.Ser330=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002101477] Chr19:18878950 [GRCh38]
Chr19:18989759 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.945C>T (p.His315=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002217191] Chr19:18878995 [GRCh38]
Chr19:18989804 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.1010+18C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002102529] Chr19:18878912 [GRCh38]
Chr19:18989721 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.558T>C (p.Thr186=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002160244] Chr19:18884119 [GRCh38]
Chr19:18994928 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.978C>A (p.Ala326=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002217432] Chr19:18878962 [GRCh38]
Chr19:18989771 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.369C>T (p.Thr123=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002217932] Chr19:18893456 [GRCh38]
Chr19:19004265 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.999C>T (p.Pro333=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002177064] Chr19:18878941 [GRCh38]
Chr19:18989750 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.410-17G>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002204168] Chr19:18884284 [GRCh38]
Chr19:18995093 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.1011-16C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002175972] Chr19:18870635 [GRCh38]
Chr19:18981444 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.*773G>A single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002219126] Chr19:18869212 [GRCh38]
Chr19:18980021 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.180G>A (p.Leu60=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002103456] Chr19:18895893 [GRCh38]
Chr19:19006702 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.171G>T (p.Pro57=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002159235] Chr19:18895902 [GRCh38]
Chr19:19006711 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.590+14C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002200798] Chr19:18884073 [GRCh38]
Chr19:18994882 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.156C>T (p.His52=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002161650] Chr19:18895917 [GRCh38]
Chr19:19006726 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.420G>C (p.Pro140=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002098224] Chr19:18884257 [GRCh38]
Chr19:18995066 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.900+20C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002162987] Chr19:18879221 [GRCh38]
Chr19:18990030 [GRCh37]
Chr19:19p13.11		 likely benign
NC_000019.9:g.(?_17927663)_(19312528_?)dup duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003116292] Chr19:17927663..19312528 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.91_98dup (p.Gly34fs) duplication Right atrial isomerism [RCV004789876] Chr19:18870209..18870210 [GRCh38]
Chr19:18981018..18981019 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_001492.6(GDF1):c.418G>C (p.Glu140Gln) single nucleotide variant not provided [RCV003154526] Chr19:18869298 [GRCh38]
Chr19:18980107 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.176C>T (p.Pro59Leu) single nucleotide variant not provided [RCV002308845] Chr19:18870132 [GRCh38]
Chr19:18980941 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.113C>A (p.Thr38Lys) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002974819] Chr19:18895960 [GRCh38]
Chr19:19006769 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.149A>G (p.Gln50Arg) single nucleotide variant not specified [RCV004108524] Chr19:18870159 [GRCh38]
Chr19:18980968 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.198C>G (p.Gly66=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003075029] Chr19:18895875 [GRCh38]
Chr19:19006684 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.653C>A (p.Ala218Glu) single nucleotide variant not provided [RCV002775407] Chr19:18869063 [GRCh38]
Chr19:18979872 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.840C>T (p.Phe280=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002995799] Chr19:18879301 [GRCh38]
Chr19:18990110 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.102G>C (p.Ala34=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002904940] Chr19:18895971 [GRCh38]
Chr19:19006780 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.590+11G>C single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002882279] Chr19:18884076 [GRCh38]
Chr19:18994885 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.431G>C (p.Arg144Pro) single nucleotide variant not provided [RCV002904627] Chr19:18869285 [GRCh38]
Chr19:18980094 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.977C>G (p.Ala326Gly) single nucleotide variant not specified [RCV004127165] Chr19:18868739 [GRCh38]
Chr19:18979548 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.1096G>T (p.Val366Leu) single nucleotide variant not specified [RCV004120106] Chr19:18868620 [GRCh38]
Chr19:18979429 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.809G>A (p.Cys270Tyr) single nucleotide variant not specified [RCV004245226] Chr19:18879332 [GRCh38]
Chr19:18990141 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.68T>G (p.Val23Gly) single nucleotide variant not specified [RCV004166587] Chr19:18896005 [GRCh38]
Chr19:19006814 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.1095G>A (p.Val365=) single nucleotide variant not provided [RCV002760231] Chr19:18868621 [GRCh38]
Chr19:18979430 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.307G>A (p.Ala103Thr) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002871392] Chr19:18893518 [GRCh38]
Chr19:19004327 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.81G>C (p.Trp27Cys) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002696049] Chr19:18895992 [GRCh38]
Chr19:19006801 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.878C>T (p.Ala293Val) single nucleotide variant GDF1-related disorder [RCV003420521]|not specified [RCV004230851] Chr19:18868838 [GRCh38]
Chr19:18979647 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.72G>C (p.Gln24His) single nucleotide variant not specified [RCV004242177] Chr19:18896001 [GRCh38]
Chr19:19006810 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.39C>G (p.Pro13=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002638411] Chr19:18896034 [GRCh38]
Chr19:19006843 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.900+11C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003002732] Chr19:18879230 [GRCh38]
Chr19:18990039 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.591-8T>A single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003020636] Chr19:18880443 [GRCh38]
Chr19:18991252 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.220C>A (p.Arg74Ser) single nucleotide variant not specified [RCV004113017] Chr19:18895853 [GRCh38]
Chr19:19006662 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.951G>A (p.Leu317=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002638597] Chr19:18878989 [GRCh38]
Chr19:18989798 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.69G>T (p.Ser23=) single nucleotide variant not provided [RCV002886391] Chr19:18870239 [GRCh38]
Chr19:18981048 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.71A>C (p.Gln24Pro) single nucleotide variant not specified [RCV004242176] Chr19:18896002 [GRCh38]
Chr19:19006811 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.192G>T (p.Ala64=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002659672] Chr19:18895881 [GRCh38]
Chr19:19006690 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.38T>A (p.Leu13His) single nucleotide variant not provided [RCV002978970] Chr19:18870270 [GRCh38]
Chr19:18981079 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.250-20G>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003008309] Chr19:18893595 [GRCh38]
Chr19:19004404 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.512C>T (p.Thr171Ile) single nucleotide variant not specified [RCV004143907] Chr19:18884165 [GRCh38]
Chr19:18994974 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.1016C>T (p.Pro339Leu) single nucleotide variant not specified [RCV004155185] Chr19:18868700 [GRCh38]
Chr19:18979509 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.761A>C (p.Asp254Ala) single nucleotide variant not specified [RCV004091692] Chr19:18868955 [GRCh38]
Chr19:18979764 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.195C>T (p.Leu65=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003082219] Chr19:18895878 [GRCh38]
Chr19:19006687 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.517G>A (p.Gly173Ser) single nucleotide variant not provided [RCV003041593] Chr19:18869199 [GRCh38]
Chr19:18980008 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.518G>A (p.Arg173His) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003083705] Chr19:18884159 [GRCh38]
Chr19:18994968 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.148G>T (p.Ala50Ser) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002875690] Chr19:18895925 [GRCh38]
Chr19:19006734 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.420G>A (p.Pro140=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002932637] Chr19:18884257 [GRCh38]
Chr19:18995066 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.738C>T (p.His246=) single nucleotide variant not provided [RCV003022853] Chr19:18868978 [GRCh38]
Chr19:18979787 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.846C>T (p.Phe282=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002624809] Chr19:18879295 [GRCh38]
Chr19:18990104 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.634A>G (p.Ser212Gly) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003007998] Chr19:18880392 [GRCh38]
Chr19:18991201 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.591-3del deletion Progressive myoclonic epilepsy type 8 [RCV002872758] Chr19:18880438 [GRCh38]
Chr19:18991247 [GRCh37]
Chr19:19p13.11		 benign
NM_021267.5(CERS1):c.591-10G>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002985541] Chr19:18880445 [GRCh38]
Chr19:18991254 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.611T>A (p.Leu204His) single nucleotide variant not specified [RCV004169279] Chr19:18880415 [GRCh38]
Chr19:18991224 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.753-4G>A single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002720652] Chr19:18879392 [GRCh38]
Chr19:18990201 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.984C>G (p.Ala328=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003010179] Chr19:18878956 [GRCh38]
Chr19:18989765 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.805C>T (p.His269Tyr) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002598172] Chr19:18879336 [GRCh38]
Chr19:18990145 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.37C>A (p.Pro13Thr) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003061339] Chr19:18896036 [GRCh38]
Chr19:19006845 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.586T>A (p.Phe196Ile) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003046453] Chr19:18884091 [GRCh38]
Chr19:18994900 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.15G>T (p.Gly5=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002933943] Chr19:18896058 [GRCh38]
Chr19:19006867 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.900+7C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002599690] Chr19:18879234 [GRCh38]
Chr19:18990043 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.124T>G (p.Trp42Gly) single nucleotide variant not specified [RCV004168885] Chr19:18895949 [GRCh38]
Chr19:19006758 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.587C>G (p.Ala196Gly) single nucleotide variant not specified [RCV004097298] Chr19:18869129 [GRCh38]
Chr19:18979938 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.17C>G (p.Pro6Arg) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002580147] Chr19:18896056 [GRCh38]
Chr19:19006865 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.1011-4C>G single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003028382] Chr19:18870623 [GRCh38]
Chr19:18981432 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.753-3C>A single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003008365] Chr19:18879391 [GRCh38]
Chr19:18990200 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.148G>C (p.Ala50Pro) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002601044] Chr19:18895925 [GRCh38]
Chr19:19006734 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.1001T>G (p.Leu334Arg) single nucleotide variant not specified [RCV004130415] Chr19:18868715 [GRCh38]
Chr19:18979524 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.249+7G>A single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002647602] Chr19:18895817 [GRCh38]
Chr19:19006626 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.902A>G (p.Tyr301Cys) single nucleotide variant not specified [RCV004171023] Chr19:18879038 [GRCh38]
Chr19:18989847 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.234T>A (p.Thr78=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002814410] Chr19:18895839 [GRCh38]
Chr19:19006648 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.561G>A (p.Val187=) single nucleotide variant not provided [RCV002583970] Chr19:18869155 [GRCh38]
Chr19:18979964 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.325+11C>T single nucleotide variant not provided [RCV002586730] Chr19:18869972 [GRCh38]
Chr19:18980781 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.978C>T (p.Ala326=) single nucleotide variant CERS1-related disorder [RCV003936279]|Progressive myoclonic epilepsy type 8 [RCV002604032] Chr19:18878962 [GRCh38]
Chr19:18989771 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.667A>G (p.Ile223Val) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003071036] Chr19:18880359 [GRCh38]
Chr19:18991168 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.987G>A (p.Pro329=) single nucleotide variant not provided [RCV002586355] Chr19:18868729 [GRCh38]
Chr19:18979538 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.753-18T>G single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV002721674] Chr19:18879406 [GRCh38]
Chr19:18990215 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.250-4A>G single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003069525] Chr19:18893579 [GRCh38]
Chr19:19004388 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.661C>G (p.Pro221Ala) single nucleotide variant not specified [RCV004180558] Chr19:18869055 [GRCh38]
Chr19:18979864 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.214dup (p.Gln72fs) duplication not provided [RCV003154548] Chr19:18870093..18870094 [GRCh38]
Chr19:18980902..18980903 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.144G>T (p.Glu48Asp) single nucleotide variant not specified [RCV004270358] Chr19:18870164 [GRCh38]
Chr19:18980973 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.645GGCGCT[1] (p.216AL[1]) microsatellite not provided [RCV003135351] Chr19:18869060..18869065 [GRCh38]
Chr19:18979869..18979874 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.572G>C (p.Gly191Ala) single nucleotide variant not provided [RCV003135352] Chr19:18869144 [GRCh38]
Chr19:18979953 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.275T>C (p.Val92Ala) single nucleotide variant not provided [RCV003142555] Chr19:18870033 [GRCh38]
Chr19:18980842 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.537del (p.Pro180fs) deletion Congenital heart defects, multiple types, 6 [RCV003322657] Chr19:18869179 [GRCh38]
Chr19:18979988 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.431G>A (p.Arg144Gln) single nucleotide variant not provided [RCV003325061] Chr19:18869285 [GRCh38]
Chr19:18980094 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.575C>T (p.Pro192Leu) single nucleotide variant not specified [RCV004363436] Chr19:18869141 [GRCh38]
Chr19:18979950 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.40G>A (p.Glu14Lys) single nucleotide variant not specified [RCV004345661] Chr19:18896033 [GRCh38]
Chr19:19006842 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.354C>T (p.Ala118=) single nucleotide variant not provided [RCV003873259] Chr19:18869362 [GRCh38]
Chr19:18980171 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.811C>T (p.Arg271Trp) single nucleotide variant not provided [RCV003487866] Chr19:18868905 [GRCh38]
Chr19:18979714 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.136C>T (p.Arg46Cys) single nucleotide variant GDF1-related disorder [RCV003414589] Chr19:18870172 [GRCh38]
Chr19:18980981 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.620_621delinsTT (p.Ala207Val) indel GDF1-related disorder [RCV003402256] Chr19:18869095..18869096 [GRCh38]
Chr19:18979904..18979905 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.934C>G (p.Pro312Ala) single nucleotide variant GDF1-related disorder [RCV003399783] Chr19:18868782 [GRCh38]
Chr19:18979591 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.345G>A (p.Ser115=) single nucleotide variant not provided [RCV003576043] Chr19:18869371 [GRCh38]
Chr19:18980180 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.834G>A (p.Glu278=) single nucleotide variant not provided [RCV003662643] Chr19:18868882 [GRCh38]
Chr19:18979691 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.768_823del (p.Pro257fs) deletion not specified [RCV003488807] Chr19:18868893..18868948 [GRCh38]
Chr19:18979702..18979757 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_001492.6(GDF1):c.927C>T (p.Ser309=) single nucleotide variant not provided [RCV003829177] Chr19:18868789 [GRCh38]
Chr19:18979598 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.933dup (p.Pro312fs) duplication not provided [RCV003876851] Chr19:18868782..18868783 [GRCh38]
Chr19:18979591..18979592 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_021267.5(CERS1):c.118T>G (p.Cys40Gly) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003824449] Chr19:18895955 [GRCh38]
Chr19:19006764 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.590+14C>G single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003881402] Chr19:18884073 [GRCh38]
Chr19:18994882 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.171G>C (p.Pro57=) single nucleotide variant not provided [RCV003827090] Chr19:18870137 [GRCh38]
Chr19:18980946 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.1011-5C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003751717] Chr19:18870624 [GRCh38]
Chr19:18981433 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.250-15T>C single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003751026] Chr19:18893590 [GRCh38]
Chr19:19004399 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.940G>T (p.Val314Leu) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003751559] Chr19:18879000 [GRCh38]
Chr19:18989809 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.288C>T (p.Ala96=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003751698] Chr19:18893537 [GRCh38]
Chr19:19004346 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.402C>T (p.Val134=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003750346] Chr19:18893423 [GRCh38]
Chr19:19004232 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.753-17G>A single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003855863] Chr19:18879405 [GRCh38]
Chr19:18990214 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.630T>C (p.Asp210=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003751474] Chr19:18880396 [GRCh38]
Chr19:18991205 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.249+19C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003752543] Chr19:18895805 [GRCh38]
Chr19:19006614 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.506T>C (p.Met169Thr) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003751124] Chr19:18884171 [GRCh38]
Chr19:18994980 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.249+14G>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003751603] Chr19:18895810 [GRCh38]
Chr19:19006619 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.579C>T (p.Ser193=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003751650] Chr19:18884098 [GRCh38]
Chr19:18994907 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.901-17C>G single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003820665] Chr19:18879056 [GRCh38]
Chr19:18989865 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.900+13C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003587528] Chr19:18879228 [GRCh38]
Chr19:18990037 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.864G>A (p.Pro288=) single nucleotide variant not provided [RCV003707729] Chr19:18868852 [GRCh38]
Chr19:18979661 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.1035C>T (p.Ile345=) single nucleotide variant not provided [RCV003728892] Chr19:18868681 [GRCh38]
Chr19:18979490 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.900+14G>A single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003587763] Chr19:18879227 [GRCh38]
Chr19:18990036 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.594C>T (p.Tyr198=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003586528] Chr19:18880432 [GRCh38]
Chr19:18991241 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.375C>T (p.Tyr125=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003587862] Chr19:18893450 [GRCh38]
Chr19:19004259 [GRCh37]
Chr19:19p13.11		 likely benign
GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1 copy number loss not specified [RCV003986109] Chr19:18926463..21100330 [GRCh37]
Chr19:19p13.11-12		 uncertain significance
NM_021267.5(CERS1):c.78C>T (p.Gly26=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003586896] Chr19:18895995 [GRCh38]
Chr19:19006804 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.372C>T (p.Cys124=) single nucleotide variant not provided [RCV003554719] Chr19:18869344 [GRCh38]
Chr19:18980153 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.996G>A (p.Lys332=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003588030] Chr19:18878944 [GRCh38]
Chr19:18989753 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.901-8T>C single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV003586815] Chr19:18879047 [GRCh38]
Chr19:18989856 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.1043T>C (p.Leu348Pro) single nucleotide variant not provided [RCV003562417] Chr19:18868673 [GRCh38]
Chr19:18979482 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.849C>G (p.Arg283=) single nucleotide variant not provided [RCV003562812] Chr19:18868867 [GRCh38]
Chr19:18979676 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.729C>T (p.Gly243=) single nucleotide variant CERS1-related disorder [RCV003961439] Chr19:18880297 [GRCh38]
Chr19:18991106 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.546G>T (p.Leu182=) single nucleotide variant GDF1-related disorder [RCV003896711] Chr19:18869170 [GRCh38]
Chr19:18979979 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.665G>A (p.Arg222Gln) single nucleotide variant GDF1-related disorder [RCV003966894] Chr19:18869051 [GRCh38]
Chr19:18979860 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.-263C>T single nucleotide variant GDF1-related disorder [RCV003949437] Chr19:18870570 [GRCh38]
Chr19:18981379 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.267G>A (p.Pro89=) single nucleotide variant GDF1-related disorder [RCV003956935] Chr19:18870041 [GRCh38]
Chr19:18980850 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.757C>T (p.Arg253Cys) single nucleotide variant not specified [RCV003995026] Chr19:18868959 [GRCh38]
Chr19:18979768 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.341C>T (p.Ala114Val) single nucleotide variant not specified [RCV004387561] Chr19:18869375 [GRCh38]
Chr19:18980184 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.23C>T (p.Ala8Val) single nucleotide variant not specified [RCV004428521] Chr19:18896050 [GRCh38]
Chr19:19006859 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.260T>C (p.Leu87Pro) single nucleotide variant not specified [RCV004387559] Chr19:18870048 [GRCh38]
Chr19:18980857 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.437G>A (p.Arg146His) single nucleotide variant not specified [RCV004387563] Chr19:18869279 [GRCh38]
Chr19:18980088 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.938C>T (p.Pro313Leu) single nucleotide variant not specified [RCV004387564] Chr19:18868778 [GRCh38]
Chr19:18979587 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.214G>A (p.Ala72Thr) single nucleotide variant not specified [RCV004428520] Chr19:18895859 [GRCh38]
Chr19:19006668 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.619T>C (p.Phe207Leu) single nucleotide variant not specified [RCV004428522] Chr19:18880407 [GRCh38]
Chr19:18991216 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.250G>A (p.Gly84Arg) single nucleotide variant not specified [RCV004387558] Chr19:18870058 [GRCh38]
Chr19:18980867 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.416C>T (p.Ala139Val) single nucleotide variant not specified [RCV004387562] Chr19:18869300 [GRCh38]
Chr19:18980109 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.134C>T (p.Ala45Val) single nucleotide variant not specified [RCV004428519] Chr19:18895939 [GRCh38]
Chr19:19006748 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.1076G>A (p.Arg359Gln) single nucleotide variant not provided [RCV004697643] Chr19:18868640 [GRCh38]
Chr19:18979449 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.101C>T (p.Ala34Val) single nucleotide variant not specified [RCV004615082] Chr19:18895972 [GRCh38]
Chr19:19006781 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.761A>G (p.Asp254Gly) single nucleotide variant not specified [RCV004626817] Chr19:18868955 [GRCh38]
Chr19:18979764 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.861G>A (p.Ala287=) single nucleotide variant GDF1-related disorder [RCV004752339] Chr19:18868855 [GRCh38]
Chr19:18979664 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.1066G>A (p.Val356Met) single nucleotide variant not provided [RCV004772126] Chr19:18868650 [GRCh38]
Chr19:18979459 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.786C>T (p.Gly262=) single nucleotide variant not provided [RCV004727368] Chr19:18868930 [GRCh38]
Chr19:18979739 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.187T>C (p.Trp63Arg) single nucleotide variant not provided [RCV004774248] Chr19:18870121 [GRCh38]
Chr19:18980930 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.1087G>C (p.Asp363His) single nucleotide variant GDF1-related disorder [RCV004752248] Chr19:18868629 [GRCh38]
Chr19:18979438 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.817T>C (p.Tyr273His) single nucleotide variant GDF1-related disorder [RCV004752397] Chr19:18868899 [GRCh38]
Chr19:18979708 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.328G>A (p.Ala110Thr) single nucleotide variant not provided [RCV004769336] Chr19:18869388 [GRCh38]
Chr19:18980197 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.1052A>G (p.Asp351Gly) single nucleotide variant not provided [RCV005110310]|not specified [RCV004916695] Chr19:18868664 [GRCh38]
Chr19:18979473 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.5C>A (p.Pro2Gln) single nucleotide variant not specified [RCV004916694] Chr19:18870303 [GRCh38]
Chr19:18981112 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.1010+10G>A single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV005105594] Chr19:18878920 [GRCh38]
Chr19:18989729 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.655C>A (p.Leu219Ile) single nucleotide variant not specified [RCV004925257] Chr19:18869061 [GRCh38]
Chr19:18979870 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.322C>G (p.Arg108Gly) single nucleotide variant not specified [RCV004925258] Chr19:18869986 [GRCh38]
Chr19:18980795 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.928G>A (p.Gly310Arg) single nucleotide variant not provided [RCV005066034] Chr19:18868788 [GRCh38]
Chr19:18979597 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.1010+7G>A single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV005063751] Chr19:18878923 [GRCh38]
Chr19:18989732 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.217G>A (p.Glu73Lys) single nucleotide variant not provided [RCV005054776] Chr19:18870091 [GRCh38]
Chr19:18980900 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.687C>T (p.Gly229=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV005174740] Chr19:18880339 [GRCh38]
Chr19:18991148 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.794G>A (p.Gly265Asp) single nucleotide variant not specified [RCV004925256] Chr19:18868922 [GRCh38]
Chr19:18979731 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_021267.5(CERS1):c.753-10C>G single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV005082006] Chr19:18879398 [GRCh38]
Chr19:18990207 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.409+9C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV005132819] Chr19:18893407 [GRCh38]
Chr19:19004216 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.249+12C>T single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV005191782] Chr19:18895812 [GRCh38]
Chr19:19006621 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.633C>T (p.Arg211=) single nucleotide variant not provided [RCV005122955] Chr19:18869083 [GRCh38]
Chr19:18979892 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.924G>A (p.Lys308=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV005184016] Chr19:18879016 [GRCh38]
Chr19:18989825 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.951C>T (p.His317=) single nucleotide variant not provided [RCV005197545] Chr19:18868765 [GRCh38]
Chr19:18979574 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.288G>C (p.Gly96=) single nucleotide variant not provided [RCV005181609] Chr19:18870020 [GRCh38]
Chr19:18980829 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.735C>T (p.Cys245=) single nucleotide variant not provided [RCV005144762] Chr19:18868981 [GRCh38]
Chr19:18979790 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.888C>G (p.Cys296Trp) single nucleotide variant not provided [RCV005194344] Chr19:18868828 [GRCh38]
Chr19:18979637 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001492.6(GDF1):c.493C>T (p.Leu165=) single nucleotide variant not provided [RCV005143158] Chr19:18869223 [GRCh38]
Chr19:18980032 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.6G>T (p.Ala2=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV005138644] Chr19:18896067 [GRCh38]
Chr19:19006876 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.90C>T (p.Pro30=) single nucleotide variant not provided [RCV005120815] Chr19:18870218 [GRCh38]
Chr19:18981027 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.711G>A (p.Leu237=) single nucleotide variant not provided [RCV005132929] Chr19:18869005 [GRCh38]
Chr19:18979814 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.648G>A (p.Ala216=) single nucleotide variant not provided [RCV005118036] Chr19:18869068 [GRCh38]
Chr19:18979877 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.360C>T (p.Ala120=) single nucleotide variant not provided [RCV005194275] Chr19:18869356 [GRCh38]
Chr19:18980165 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.865C>T (p.Leu289=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV005205990] Chr19:18879276 [GRCh38]
Chr19:18990085 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.30G>A (p.Pro10=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV005133447] Chr19:18896043 [GRCh38]
Chr19:19006852 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.762C>T (p.Asp254=) single nucleotide variant not provided [RCV005191728] Chr19:18868954 [GRCh38]
Chr19:18979763 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001492.6(GDF1):c.30C>A (p.Gly10=) single nucleotide variant not provided [RCV005108136] Chr19:18870278 [GRCh38]
Chr19:18981087 [GRCh37]
Chr19:19p13.11		 likely benign
NM_021267.5(CERS1):c.858G>A (p.Ala286=) single nucleotide variant Progressive myoclonic epilepsy type 8 [RCV005181169] Chr19:18879283 [GRCh38]
Chr19:18990092 [GRCh37]
Chr19:19p13.11		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2875
Count of miRNA genes:712
Interacting mature miRNAs:862
Transcripts:ENST00000427170, ENST00000429504, ENST00000542296, ENST00000596048
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300034BP50_HBlood pressure QTL 50 (human)2.10.00094Blood pressuresystolic191108946337089463Human
597281884GWAS1377958_Hglycosyl-N-stearoyl-sphingosine (d18:1/18:0) measurement QTL GWAS1377958 (human)2e-106glycosyl-N-stearoyl-sphingosine (d18:1/18:0) measurement191889623918896240Human

Markers in Region
WI-14123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,988,731 - 18,988,880UniSTSGRCh37
Build 361918,849,731 - 18,849,880RGDNCBI36
Celera1918,893,543 - 18,893,692RGD
Cytogenetic Map19p12UniSTS
HuRef1918,553,094 - 18,553,243UniSTS
GeneMap99-GB4 RH Map19103.62UniSTS
Whitehead-RH Map19105.5UniSTS
D19S842E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,978,911 - 18,978,976UniSTSGRCh37
Build 361918,839,911 - 18,839,976RGDNCBI36
Celera1918,883,712 - 18,883,777RGD
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.2-p13.11UniSTS
HuRef1918,543,262 - 18,543,327UniSTS
A006H36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,978,912 - 18,979,017UniSTSGRCh37
Build 361918,839,912 - 18,840,017RGDNCBI36
Celera1918,883,713 - 18,883,818RGD
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.2-p13.11UniSTS
HuRef1918,543,263 - 18,543,368UniSTS
GeneMap99-GB4 RH Map19103.3UniSTS


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_033056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC003972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI671814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL120193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC084582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF343384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM925585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX453803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M62302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000429504   ⟹   ENSP00000389044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,877,909 - 18,896,135 (-)Ensembl
Ensembl Acc Id: ENST00000542296   ⟹   ENSP00000437648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,877,911 - 18,896,727 (-)Ensembl
Ensembl Acc Id: ENST00000596048   ⟹   ENSP00000471428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,877,917 - 18,884,233 (-)Ensembl
Ensembl Acc Id: ENST00000623882   ⟹   ENSP00000485308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,868,545 - 18,896,158 (-)Ensembl
Ensembl Acc Id: ENST00000623927   ⟹   ENSP00000485582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,868,552 - 18,896,144 (-)Ensembl
RefSeq Acc Id: NM_001290265   ⟹   NP_001277194
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,877,911 - 18,896,982 (-)NCBI
CHM1_11918,988,527 - 19,007,208 (-)NCBI
T2T-CHM13v2.01919,013,529 - 19,032,606 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387439   ⟹   NP_001374368
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,877,911 - 18,896,158 (-)NCBI
T2T-CHM13v2.01919,013,529 - 19,031,781 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387440   ⟹   NP_001374369
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,868,545 - 18,896,158 (-)NCBI
T2T-CHM13v2.01919,004,162 - 19,031,781 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387441   ⟹   NP_001374370
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,877,911 - 18,896,158 (-)NCBI
T2T-CHM13v2.01919,013,529 - 19,031,781 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387442   ⟹   NP_001374371
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,877,911 - 18,896,982 (-)NCBI
T2T-CHM13v2.01919,013,529 - 19,032,606 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387443   ⟹   NP_001374372
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,877,911 - 18,896,982 (-)NCBI
T2T-CHM13v2.01919,013,529 - 19,032,606 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387444   ⟹   NP_001374373
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,877,911 - 18,896,158 (-)NCBI
T2T-CHM13v2.01919,013,529 - 19,031,781 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387445   ⟹   NP_001374374
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,877,911 - 18,896,158 (-)NCBI
T2T-CHM13v2.01919,013,529 - 19,031,781 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021267   ⟹   NP_067090
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,868,545 - 18,896,158 (-)NCBI
GRCh371918,979,361 - 19,007,396 (-)NCBI
Celera1918,884,162 - 18,911,776 (-)RGD
HuRef1918,543,712 - 18,571,613 (-)RGD
CHM1_11918,979,164 - 19,006,647 (-)NCBI
T2T-CHM13v2.01919,004,162 - 19,031,781 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198207   ⟹   NP_937850
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,877,911 - 18,896,158 (-)NCBI
GRCh371918,979,361 - 19,007,396 (-)NCBI
Build 361918,849,727 - 18,867,953 (-)NCBI Archive
Celera1918,884,162 - 18,911,776 (-)RGD
HuRef1918,543,712 - 18,571,613 (-)RGD
CHM1_11918,988,527 - 19,006,647 (-)NCBI
T2T-CHM13v2.01919,013,529 - 19,031,781 (-)NCBI
Sequence:
RefSeq Acc Id: NP_067090   ⟸   NM_021267
- Peptide Label: isoform 1
- UniProtKB: P27544 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_937850   ⟸   NM_198207
- Peptide Label: isoform 2
- UniProtKB: P27544 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001277194   ⟸   NM_001290265
- Peptide Label: isoform 3
- UniProtKB: B4DE47 (UniProtKB/TrEMBL),   Q5XG75 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000437648   ⟸   ENST00000542296
Ensembl Acc Id: ENSP00000471428   ⟸   ENST00000596048
Ensembl Acc Id: ENSP00000485582   ⟸   ENST00000623927
Ensembl Acc Id: ENSP00000485308   ⟸   ENST00000623882
Ensembl Acc Id: ENSP00000389044   ⟸   ENST00000429504
RefSeq Acc Id: NP_001374369   ⟸   NM_001387440
- Peptide Label: isoform 1
- UniProtKB: P27544 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001374372   ⟸   NM_001387443
- Peptide Label: isoform 6
- UniProtKB: B4DE47 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001374371   ⟸   NM_001387442
- Peptide Label: isoform 6
- UniProtKB: B4DE47 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001374370   ⟸   NM_001387441
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001374368   ⟸   NM_001387439
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001374374   ⟸   NM_001387445
- Peptide Label: isoform 3
- UniProtKB: Q5XG75 (UniProtKB/TrEMBL),   B4DE47 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001374373   ⟸   NM_001387444
- Peptide Label: isoform 3
- UniProtKB: Q5XG75 (UniProtKB/TrEMBL),   B4DE47 (UniProtKB/TrEMBL)
Protein Domains
TLC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P27544-F1-model_v2 AlphaFold P27544 1-350 view protein structure

Promoters
RGD ID:6795751
Promoter ID:HG_KWN:29326
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_021267,   NM_198207,   UC010EBX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361918,867,616 - 18,868,116 (-)MPROMDB
RGD ID:7239183
Promoter ID:EPDNEW_H25337
Type:multiple initiation site
Name:CERS1_2
Description:ceramide synthase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25338  EPDNEW_H25340  EPDNEW_H25341  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,895,643 - 18,895,703EPDNEW
RGD ID:7239185
Promoter ID:EPDNEW_H25338
Type:initiation region
Name:CERS1_3
Description:ceramide synthase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25337  EPDNEW_H25340  EPDNEW_H25341  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,895,897 - 18,895,957EPDNEW
RGD ID:7239187
Promoter ID:EPDNEW_H25340
Type:initiation region
Name:CERS1_1
Description:ceramide synthase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25337  EPDNEW_H25338  EPDNEW_H25341  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,896,154 - 18,896,214EPDNEW
RGD ID:7239189
Promoter ID:EPDNEW_H25341
Type:initiation region
Name:CERS1_4
Description:ceramide synthase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25337  EPDNEW_H25338  EPDNEW_H25340  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,896,730 - 18,896,790EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14253 AgrOrtholog
COSMIC CERS1 COSMIC
Ensembl Genes ENSG00000223802 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000429504 ENTREZGENE
  ENST00000429504.6 UniProtKB/Swiss-Prot
  ENST00000542296 ENTREZGENE
  ENST00000596048 ENTREZGENE
  ENST00000623882 ENTREZGENE
  ENST00000623882.4 UniProtKB/Swiss-Prot
GTEx ENSG00000223802 GTEx
HGNC ID HGNC:14253 ENTREZGENE
Human Proteome Map CERS1 Human Proteome Map
InterPro Lag1/Lac1-like UniProtKB/Swiss-Prot
  TLC-dom UniProtKB/Swiss-Prot
KEGG Report hsa:10715 UniProtKB/Swiss-Prot
NCBI Gene 10715 ENTREZGENE
OMIM 606919 OMIM
PANTHER CERAMIDE SYNTHASE 1 UniProtKB/Swiss-Prot
  LONGEVITY ASSURANCE FACTOR 1 LAG1 UniProtKB/Swiss-Prot
Pfam TRAM_LAG1_CLN8 UniProtKB/Swiss-Prot
PharmGKB PA30299 PharmGKB
PROSITE TLC UniProtKB/Swiss-Prot
SMART TLC UniProtKB/Swiss-Prot
UniProt B4DE47 ENTREZGENE, UniProtKB/TrEMBL
  CERS1_HUMAN UniProtKB/Swiss-Prot
  M0R0T2_HUMAN UniProtKB/TrEMBL
  P27544 ENTREZGENE
  Q5XG75 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 CERS1  ceramide synthase 1  LASS1  LAG1 homolog, ceramide synthase 1  Symbol and/or name change 5135510 APPROVED