CCDC78 (coiled-coil domain containing 78) - Rat Genome Database

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Gene: CCDC78 (coiled-coil domain containing 78) Homo sapiens
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Symbol: CCDC78
Name: coiled-coil domain containing 78
RGD ID: 1345830
HGNC Page HGNC:14153
Description: Involved in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation and skeletal muscle contraction. Located in several cellular components, including centriole; deuterosome; and sarcolemma. Implicated in centronuclear myopathy 4.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C16orf25; chromosome 16 open reading frame 25; CNM4; coiled-coil domain-containing protein 78; FLJ34512; hsCCDC78; JFP10; LA16c-444G9.2
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
GRCh3816722,582 - 726,880 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl16722,582 - 726,954 (-)EnsemblGRCh38hg38GRCh38
GRCh3716772,582 - 776,880 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3616712,583 - 716,460 (-)NCBINCBI36Build 36hg18NCBI36
Celera16972,747 - 976,638 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef16694,483 - 698,374 (-)NCBIHuRef
CHM1_116772,552 - 776,443 (-)NCBICHM1_1
T2T-CHM13v2.016726,756 - 731,054 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11157797   PMID:12477932   PMID:14702039   PMID:18029348   PMID:20237496   PMID:21873635   PMID:22818856   PMID:24075808   PMID:27129302   PMID:32296183   PMID:33961781   PMID:38732148  
PMID:39273074  


Genomics

Comparative Map Data
CCDC78
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3816722,582 - 726,880 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl16722,582 - 726,954 (-)EnsemblGRCh38hg38GRCh38
GRCh3716772,582 - 776,880 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3616712,583 - 716,460 (-)NCBINCBI36Build 36hg18NCBI36
Celera16972,747 - 976,638 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef16694,483 - 698,374 (-)NCBIHuRef
CHM1_116772,552 - 776,443 (-)NCBICHM1_1
T2T-CHM13v2.016726,756 - 731,054 (-)NCBIT2T-CHM13v2.0
Ccdc78
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391726,005,554 - 26,009,487 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1726,005,554 - 26,009,487 (+)EnsemblGRCm39 Ensembl
GRCm381725,786,580 - 25,790,513 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1725,786,580 - 25,790,513 (+)EnsemblGRCm38mm10GRCm38
MGSCv371725,923,525 - 25,927,458 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361725,514,180 - 25,518,113 (+)NCBIMGSCv36mm8
Celera1726,319,386 - 26,323,319 (+)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.89NCBI
Ccdc78
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81015,312,403 - 15,316,800 (+)NCBIGRCr8
mRatBN7.21014,808,355 - 14,812,284 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1014,807,710 - 14,812,282 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01015,155,839 - 15,160,039 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1015,156,207 - 15,159,894 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01014,969,092 - 14,972,982 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41015,052,949 - 15,064,350 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1014,477,059 - 14,481,260 (+)NCBICelera
Cytogenetic Map10q12NCBI
Ccdc78
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544216,478,795 - 16,482,263 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544216,478,219 - 16,482,452 (+)NCBIChiLan1.0ChiLan1.0
CCDC78
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v218963,198 - 967,657 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1164,747,036 - 4,751,251 (-)NCBINHGRI_mPanPan1
PanPan1.116735,786 - 740,155 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl16735,974 - 739,572 (-)Ensemblpanpan1.1panPan2
CCDC78
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1639,857,182 - 39,861,437 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl639,857,304 - 39,875,418 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha641,121,770 - 41,126,722 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0640,200,243 - 40,205,198 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl640,200,450 - 40,204,561 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1639,888,852 - 39,893,802 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0639,849,066 - 39,854,010 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0640,327,941 - 40,332,894 (+)NCBIUU_Cfam_GSD_1.0
Ccdc78
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344112,192,468 - 112,196,469 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936501289,765 - 294,272 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCDC78
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl341,053,936 - 41,057,734 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1341,053,926 - 41,057,735 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2341,420,178 - 41,424,583 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CCDC78
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.15642,500 - 646,337 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606830,489,336 - 30,493,389 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccdc78
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249131,531,511 - 1,535,067 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249131,531,325 - 1,535,637 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCDC78
522 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001378030.1(CCDC78):c.1275G>A (p.Gln425=) single nucleotide variant CCDC78-related disorder [RCV003945300]|Congenital myopathy with internal nuclei and atypical cores [RCV000546211]|Inborn genetic diseases [RCV004024230]|not provided [RCV004704089] Chr16:722948 [GRCh38]
Chr16:772948 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.953+10G>A single nucleotide variant CCDC78-related disorder [RCV003935361]|Congenital myopathy with internal nuclei and atypical cores [RCV000556794]|not specified [RCV000518250] Chr16:724312 [GRCh38]
Chr16:774312 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001378030.1(CCDC78):c.863G>A (p.Arg288His) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000546865] Chr16:724412 [GRCh38]
Chr16:774412 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1302-8C>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000552979]|not provided [RCV001683580] Chr16:722797 [GRCh38]
Chr16:772797 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp) single nucleotide variant CCDC78-related disorder [RCV003915450]|Congenital myopathy with internal nuclei and atypical cores [RCV000559318]|Inborn genetic diseases [RCV004601192]|not provided [RCV000518150] Chr16:725464 [GRCh38]
Chr16:775464 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_001378030.1(CCDC78):c.1245G>A (p.Thr415=) single nucleotide variant CCDC78-related disorder [RCV003980006]|Congenital myopathy with internal nuclei and atypical cores [RCV000531451]|not provided [RCV004704088] Chr16:722978 [GRCh38]
Chr16:772978 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.910G>C (p.Val304Leu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000531922] Chr16:724365 [GRCh38]
Chr16:774365 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.61-1G>A single nucleotide variant CCDC78-related disorder [RCV003398578]|Congenital myopathy with internal nuclei and atypical cores [RCV000030738] Chr16:726086 [GRCh38]
Chr16:776086 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NM_001378030.1(CCDC78):c.356C>A (p.Pro119His) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000545983] Chr16:725492 [GRCh38]
Chr16:775492 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.777T>G (p.Asp259Glu) single nucleotide variant not specified [RCV000517326] Chr16:724498 [GRCh38]
Chr16:774498 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1173G>C (p.Lys391Asn) single nucleotide variant not provided [RCV000522282] Chr16:723122 [GRCh38]
Chr16:773122 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.772G>A (p.Ala258Thr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000553817]|Inborn genetic diseases [RCV002530212] Chr16:724503 [GRCh38]
Chr16:774503 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1054-3T>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000528538] Chr16:723939 [GRCh38]
Chr16:773939 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1238G>A (p.Arg413Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000553200]|not provided [RCV001536176]|not specified [RCV000517254] Chr16:722985 [GRCh38]
Chr16:772985 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001378030.1(CCDC78):c.472C>T (p.Gln158Ter) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000548973] Chr16:725257 [GRCh38]
Chr16:775257 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3 copy number gain See cases [RCV000052369] Chr16:46566..1800860 [GRCh38]
Chr16:96566..1850861 [GRCh37]
Chr16:36566..1790862 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1773349)x1 copy number loss See cases [RCV000053251] Chr16:23141..1773349 [GRCh38]
Chr16:73141..1823350 [GRCh37]
Chr16:13141..1763351 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 copy number loss See cases [RCV000053252] Chr16:23141..1712523 [GRCh38]
Chr16:73141..1762524 [GRCh37]
Chr16:13141..1702525 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 copy number loss See cases [RCV000053253] Chr16:46766..1997582 [GRCh38]
Chr16:96766..2047583 [GRCh37]
Chr16:36766..1987584 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:105429-1499893)x1 copy number loss See cases [RCV000053267] Chr16:105429..1499893 [GRCh38]
Chr16:155427..1549894 [GRCh37]
Chr16:95427..1489895 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_001378030.1(CCDC78):c.549G>A (p.Leu183=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000547601]|not provided [RCV001668225]|not specified [RCV000116601] Chr16:725089 [GRCh38]
Chr16:775089 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001378030.1(CCDC78):c.712A>C (p.Lys238Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000524601]|not provided [RCV001770087]|not specified [RCV000241682] Chr16:724734 [GRCh38]
Chr16:774734 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_001378030.1(CCDC78):c.754T>C (p.Trp252Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001516757]|not provided [RCV001636659]|not specified [RCV000116603] Chr16:724692 [GRCh38]
Chr16:774692 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.966C>A (p.Asn322Lys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001082148]|not provided [RCV000116606] Chr16:724193 [GRCh38]
Chr16:774193 [GRCh37]
Chr16:16p13.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378030.1(CCDC78):c.937C>T (p.Leu313=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000546668]|not provided [RCV001610400]|not specified [RCV000116605] Chr16:724338 [GRCh38]
Chr16:774338 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001378030.1(CCDC78):c.803C>T (p.Thr268Met) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000532147]|not provided [RCV001753493]|not specified [RCV000116604] Chr16:724472 [GRCh38]
Chr16:774472 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001378030.1(CCDC78):c.492+1G>A single nucleotide variant CCDC78-related disorder [RCV003955415]|Congenital myopathy with internal nuclei and atypical cores [RCV001087728]|not provided [RCV000514652] Chr16:725236 [GRCh38]
Chr16:775236 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_001378030.1(CCDC78):c.758A>G (p.Gln253Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001348256] Chr16:724688 [GRCh38]
Chr16:774688 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.341C>T (p.Pro114Leu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001349093] Chr16:725507 [GRCh38]
Chr16:775507 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1196C>T (p.Thr399Ile) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001349264] Chr16:723099 [GRCh38]
Chr16:773099 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1544014)x1 copy number loss See cases [RCV000134917] Chr16:46766..1544014 [GRCh38]
Chr16:96766..1594015 [GRCh37]
Chr16:36766..1534016 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 copy number loss See cases [RCV000137826] Chr16:46722..1867327 [GRCh38]
Chr16:96722..1917328 [GRCh37]
Chr16:36722..1857329 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-882211)x1 copy number loss See cases [RCV000137979] Chr16:46766..882211 [GRCh38]
Chr16:96766..932211 [GRCh37]
Chr16:36766..872212 [NCBI36]
Chr16:16p13.3		 pathogenic|uncertain significance
GRCh38/hg38 16p13.3(chr16:412341-925326)x3 copy number gain See cases [RCV000139354] Chr16:412341..925326 [GRCh38]
Chr16:462341..975326 [GRCh37]
Chr16:402342..915327 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3(chr16:636673-786508)x3 copy number gain See cases [RCV000140337] Chr16:636673..786508 [GRCh38]
Chr16:686673..836508 [GRCh37]
Chr16:626674..776509 [NCBI36]
Chr16:16p13.3		 benign
GRCh38/hg38 16p13.3(chr16:59980-1221651)x1 copy number loss See cases [RCV000141384] Chr16:59980..1221651 [GRCh38]
Chr16:109978..1271651 [GRCh37]
Chr16:49978..1211652 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3(chr16:450686-1007236)x3 copy number gain See cases [RCV000239842] Chr16:450686..1007236 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:772433-857560)x3 copy number gain Breast ductal adenocarcinoma [RCV000207201] Chr16:772433..857560 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:97494-1257060)x3 copy number gain Breast ductal adenocarcinoma [RCV000207237] Chr16:97494..1257060 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.692G>A (p.Arg231Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000550838] Chr16:724754 [GRCh38]
Chr16:774754 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.368G>A (p.Arg123Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000544640]|Inborn genetic diseases [RCV004024231] Chr16:725480 [GRCh38]
Chr16:775480 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
GRCh37/hg19 16p13.3(chr16:88165-1715454)x1 copy number loss See cases [RCV000239415] Chr16:88165..1715454 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001378030.1(CCDC78):c.180+19C>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002057419]|not provided [RCV001711551]|not specified [RCV000245996] Chr16:725947 [GRCh38]
Chr16:775947 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.1323G>A (p.Arg441=) single nucleotide variant not provided [RCV004705084]|not specified [RCV000243726] Chr16:722768 [GRCh38]
Chr16:772768 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1133+7G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001393570]|not specified [RCV000248687] Chr16:723850 [GRCh38]
Chr16:773850 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.304C>T (p.Leu102=) single nucleotide variant not specified [RCV000251031] Chr16:725544 [GRCh38]
Chr16:775544 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.493-16C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002057420]|not specified [RCV000246400] Chr16:725161 [GRCh38]
Chr16:775161 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001378030.1(CCDC78):c.1134-9C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000528329]|not specified [RCV000253648] Chr16:723170 [GRCh38]
Chr16:773170 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001378030.1(CCDC78):c.180+11G>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002057417]|not provided [RCV001610599]|not specified [RCV000249005] Chr16:725955 [GRCh38]
Chr16:775955 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.180+12G>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002057418]|not provided [RCV001610600]|not specified [RCV000253971] Chr16:725954 [GRCh38]
Chr16:775954 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.490G>A (p.Gly164Ser) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000650521]|not provided [RCV001753717]|not specified [RCV000254413] Chr16:725239 [GRCh38]
Chr16:775239 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001378030.1(CCDC78):c.766-11G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001544416]|not provided [RCV001689812]|not specified [RCV000250017] Chr16:724520 [GRCh38]
Chr16:774520 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.1241C>A (p.Ala414Asp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001851289]|Inborn genetic diseases [RCV002525992]|not provided [RCV000487557] Chr16:722982 [GRCh38]
Chr16:772982 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
GRCh37/hg19 16p13.3(chr16:72769-1511716)x1 copy number loss See cases [RCV000240294] Chr16:72769..1511716 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001378030.1(CCDC78):c.104G>A (p.Gly35Asp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000810312]|not specified [RCV000518126] Chr16:726042 [GRCh38]
Chr16:776042 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.180+11_180+12delinsTT indel Congenital myopathy with internal nuclei and atypical cores [RCV002057416]|not specified [RCV000245680] Chr16:725954..725955 [GRCh38]
Chr16:775954..775955 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001378030.1(CCDC78):c.1039C>T (p.His347Tyr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000550251] Chr16:724120 [GRCh38]
Chr16:774120 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:239130-841725)x3 copy number gain See cases [RCV000240506] Chr16:239130..841725 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1007C>T (p.Pro336Leu) single nucleotide variant Inborn genetic diseases [RCV003244592] Chr16:724152 [GRCh38]
Chr16:774152 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.947C>T (p.Ala316Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001367866] Chr16:724328 [GRCh38]
Chr16:774328 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.502G>C (p.Glu168Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001367726] Chr16:725136 [GRCh38]
Chr16:775136 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.200A>G (p.Asp67Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000531252] Chr16:725861 [GRCh38]
Chr16:775861 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.1190G>A (p.Arg397His) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000650520]|not provided [RCV001662524]|not specified [RCV000516380] Chr16:723105 [GRCh38]
Chr16:773105 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001378030.1(CCDC78):c.973G>C (p.Ala325Pro) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000650516]|not specified [RCV000516842] Chr16:724186 [GRCh38]
Chr16:774186 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.753del (p.Trp252fs) deletion not provided [RCV000598745] Chr16:724693 [GRCh38]
Chr16:774693 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.70C>T (p.Arg24Ter) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000819152]|not provided [RCV000599187] Chr16:726076 [GRCh38]
Chr16:776076 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.737G>A (p.Arg246Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000555177]|not provided [RCV001672846]|not specified [RCV001288563] Chr16:724709 [GRCh38]
Chr16:774709 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001378030.1(CCDC78):c.1098C>T (p.Pro366=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000539840] Chr16:723892 [GRCh38]
Chr16:773892 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.765+8C>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000539087] Chr16:724673 [GRCh38]
Chr16:774673 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.356C>G (p.Pro119Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000560662] Chr16:725492 [GRCh38]
Chr16:775492 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001378030.1(CCDC78):c.267+3G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001352422]|not specified [RCV000433929] Chr16:725791 [GRCh38]
Chr16:775791 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.1112del (p.Gln371fs) deletion Congenital myopathy with internal nuclei and atypical cores [RCV001039806]|not provided [RCV000485636] Chr16:723878 [GRCh38]
Chr16:773878 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.151C>G (p.Leu51Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002525846]|not provided [RCV000485966] Chr16:725995 [GRCh38]
Chr16:775995 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.730G>A (p.Val244Ile) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000540447]|not specified [RCV000504010] Chr16:724716 [GRCh38]
Chr16:774716 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.60T>C (p.Asn20=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000525943]|not provided [RCV001672809]|not specified [RCV000502859] Chr16:726308 [GRCh38]
Chr16:776308 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001378030.1(CCDC78):c.1103G>A (p.Gly368Glu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000554592] Chr16:723887 [GRCh38]
Chr16:773887 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.598G>A (p.Glu200Lys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000697879] Chr16:724952 [GRCh38]
Chr16:774952 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1214G>A (p.Arg405Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000538424] Chr16:723009 [GRCh38]
Chr16:773009 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001378030.1(CCDC78):c.691C>G (p.Arg231Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000540665] Chr16:724755 [GRCh38]
Chr16:774755 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
NM_001378030.1(CCDC78):c.365C>T (p.Pro122Leu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000534408]|Inborn genetic diseases [RCV004601206]|not provided [RCV001755887] Chr16:725483 [GRCh38]
Chr16:775483 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.1235T>G (p.Val412Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003444382]|Inborn genetic diseases [RCV003262941] Chr16:722988 [GRCh38]
Chr16:772988 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
NM_001378030.1(CCDC78):c.492C>T (p.Gly164=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000537404]|not provided [RCV001683581] Chr16:725237 [GRCh38]
Chr16:775237 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_001378030.1(CCDC78):c.468T>G (p.Asn156Lys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000537626]|not provided [RCV003156257] Chr16:725261 [GRCh38]
Chr16:775261 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.754_755inv (p.Trp252Gln) inversion Congenital myopathy with internal nuclei and atypical cores [RCV000533487]|not provided [RCV001692184] Chr16:724691..724692 [GRCh38]
Chr16:774691..774692 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_001378030.1(CCDC78):c.889C>T (p.Arg297Cys) single nucleotide variant CCDC78-related disorder [RCV004745476]|Congenital myopathy with internal nuclei and atypical cores [RCV000557026]|not provided [RCV004705667]|not specified [RCV001662584] Chr16:724386 [GRCh38]
Chr16:774386 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001378030.1(CCDC78):c.767A>G (p.Glu256Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000650510] Chr16:724508 [GRCh38]
Chr16:774508 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.536G>A (p.Arg179Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000650511]|Inborn genetic diseases [RCV002531962] Chr16:725102 [GRCh38]
Chr16:775102 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.308G>A (p.Arg103Gln) single nucleotide variant CCDC78-related disorder [RCV003905760]|Congenital myopathy with internal nuclei and atypical cores [RCV000650512]|not provided [RCV001756089] Chr16:725540 [GRCh38]
Chr16:775540 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.554C>T (p.Thr185Met) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000650513]|Inborn genetic diseases [RCV003162980] Chr16:725084 [GRCh38]
Chr16:775084 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.575G>A (p.Arg192Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000650514] Chr16:724975 [GRCh38]
Chr16:774975 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.1311C>T (p.His437=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000650515] Chr16:722780 [GRCh38]
Chr16:772780 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.509A>G (p.Lys170Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000650517] Chr16:725129 [GRCh38]
Chr16:775129 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.535C>T (p.Arg179Trp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000650518] Chr16:725103 [GRCh38]
Chr16:775103 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.141C>T (p.Val47=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001402783] Chr16:726005 [GRCh38]
Chr16:776005 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.642G>A (p.Val214=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000650522] Chr16:724804 [GRCh38]
Chr16:774804 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.766-9C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000650523]|not provided [RCV001672915] Chr16:724518 [GRCh38]
Chr16:774518 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.1276G>A (p.Glu426Lys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000650524] Chr16:722947 [GRCh38]
Chr16:772947 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.781G>A (p.Ala261Thr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000650525] Chr16:724494 [GRCh38]
Chr16:774494 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.1237C>G (p.Arg413Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000650526] Chr16:722986 [GRCh38]
Chr16:772986 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1043G>A (p.Arg348Gln) single nucleotide variant CCDC78-related disorder [RCV003945651]|Congenital myopathy with internal nuclei and atypical cores [RCV000650527]|not provided [RCV004705757] Chr16:724116 [GRCh38]
Chr16:774116 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001378030.1(CCDC78):c.893G>A (p.Ser298Asn) single nucleotide variant not provided [RCV000512772] Chr16:724382 [GRCh38]
Chr16:774382 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001378030.1(CCDC78):c.812G>A (p.Arg271Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000697866] Chr16:724463 [GRCh38]
Chr16:774463 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.436G>T (p.Val146Leu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000699489]|Inborn genetic diseases [RCV004026476] Chr16:725293 [GRCh38]
Chr16:775293 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-1498731)x1 copy number loss not provided [RCV000683740] Chr16:85880..1498731 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 copy number loss not provided [RCV000683741] Chr16:85880..1875694 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
NM_001378030.1(CCDC78):c.711G>C (p.Lys237Asn) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000687540] Chr16:724735 [GRCh38]
Chr16:774735 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.880C>T (p.Arg294Trp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000688442] Chr16:724395 [GRCh38]
Chr16:774395 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1067G>A (p.Gly356Glu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000698737] Chr16:723923 [GRCh38]
Chr16:773923 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1281C>T (p.Tyr427=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000694693]|not provided [RCV004569324] Chr16:722942 [GRCh38]
Chr16:772942 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.751G>A (p.Ala251Thr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000704328] Chr16:724695 [GRCh38]
Chr16:774695 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.874del (p.Leu292fs) deletion CCDC78-related disorder [RCV003420257]|Congenital myopathy with internal nuclei and atypical cores [RCV000704367]|not specified [RCV004702354] Chr16:724401 [GRCh38]
Chr16:774401 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.183C>G (p.Ile61Met) single nucleotide variant CCDC78-related disorder [RCV003945717]|Congenital myopathy with internal nuclei and atypical cores [RCV000695091] Chr16:725878 [GRCh38]
Chr16:775878 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.389G>A (p.Arg130Lys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000707602]|Inborn genetic diseases [RCV004026754] Chr16:725459 [GRCh38]
Chr16:775459 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.842T>A (p.Ile281Asn) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000688262] Chr16:724433 [GRCh38]
Chr16:774433 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.416C>T (p.Ser139Phe) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000705672] Chr16:725432 [GRCh38]
Chr16:775432 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.898_900del (p.His300del) deletion Congenital myopathy with internal nuclei and atypical cores [RCV000706133] Chr16:724375..724377 [GRCh38]
Chr16:774375..774377 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.683A>C (p.Glu228Ala) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000685832] Chr16:724763 [GRCh38]
Chr16:774763 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.23G>A (p.Gly8Asp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000698790]|not provided [RCV001288562] Chr16:726345 [GRCh38]
Chr16:776345 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378030.1(CCDC78):c.557G>A (p.Arg186His) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000692451] Chr16:725081 [GRCh38]
Chr16:775081 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1248G>A (p.Met416Ile) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000689727] Chr16:722975 [GRCh38]
Chr16:772975 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.46C>T (p.Arg16Trp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000687527] Chr16:726322 [GRCh38]
Chr16:776322 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.502G>A (p.Glu168Lys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000693303] Chr16:725136 [GRCh38]
Chr16:775136 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.763G>A (p.Val255Met) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000691241] Chr16:724683 [GRCh38]
Chr16:774683 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.217C>T (p.His73Tyr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000705959] Chr16:725844 [GRCh38]
Chr16:775844 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.707T>C (p.Leu236Pro) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000703586] Chr16:724739 [GRCh38]
Chr16:774739 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:591586-784800)x3 copy number gain not provided [RCV000738948] Chr16:591586..784800 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:624108-780942)x3 copy number gain not provided [RCV000738956] Chr16:624108..780942 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:624108-784800)x3 copy number gain not provided [RCV000738957] Chr16:624108..784800 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:682670-784800)x3 copy number gain not provided [RCV000738959] Chr16:682670..784800 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:683959-781623)x3 copy number gain not provided [RCV000738960] Chr16:683959..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:683959-784800)x3 copy number gain not provided [RCV000738961] Chr16:683959..784800 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:569754-781623)x3 copy number gain not provided [RCV000751474] Chr16:569754..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:569754-847743)x3 copy number gain not provided [RCV000751475] Chr16:569754..847743 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:570466-781623)x3 copy number gain not provided [RCV000751476] Chr16:570466..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:580124-875402)x1 copy number loss not provided [RCV000751479] Chr16:580124..875402 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:747013-781623)x4 copy number gain not provided [RCV000751482] Chr16:747013..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:747013-784800)x3 copy number gain not provided [RCV000751483] Chr16:747013..784800 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:749057-781623)x4 copy number gain not provided [RCV000751484] Chr16:749057..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:767519-781623)x3 copy number gain not provided [RCV000751485] Chr16:767519..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:769853-781623)x3 copy number gain not provided [RCV000751486] Chr16:769853..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:772978-780545)x3 copy number gain not provided [RCV000751487] Chr16:772978..780545 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:61451-1593645)x1 copy number loss not provided [RCV000751445] Chr16:61451..1593645 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:450309-951598)x3 copy number gain not provided [RCV000751466] Chr16:450309..951598 [GRCh37]
Chr16:16p13.3		 benign
NM_001378033.1(CCDC78):c.-226+175G>T single nucleotide variant not provided [RCV001537490] Chr16:726614 [GRCh38]
Chr16:776614 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.1134-131del deletion Congenital myopathy with internal nuclei and atypical cores [RCV001544414]|not provided [RCV001673178] Chr16:723292 [GRCh38]
Chr16:773292 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.1134-160dup duplication Congenital myopathy with internal nuclei and atypical cores [RCV001544415]|not provided [RCV001615283] Chr16:723313..723314 [GRCh38]
Chr16:773313..773314 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.1301+55G>A single nucleotide variant not provided [RCV001766197] Chr16:722867 [GRCh38]
Chr16:772867 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.844del (p.Arg282fs) deletion not provided [RCV000761925] Chr16:724431 [GRCh38]
Chr16:774431 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1134-172G>A single nucleotide variant not provided [RCV003312320] Chr16:723333 [GRCh38]
Chr16:773333 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.840C>T (p.Asp280=) single nucleotide variant not provided [RCV000936107] Chr16:724435 [GRCh38]
Chr16:774435 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1279T>C (p.Tyr427His) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001447090] Chr16:722944 [GRCh38]
Chr16:772944 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.42C>T (p.Pro14=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000877408] Chr16:726326 [GRCh38]
Chr16:776326 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.195G>C (p.Leu65=) single nucleotide variant not provided [RCV000920691] Chr16:725866 [GRCh38]
Chr16:775866 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1014C>T (p.Pro338=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001455141] Chr16:724145 [GRCh38]
Chr16:774145 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.612C>T (p.Ala204=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001472332] Chr16:724938 [GRCh38]
Chr16:774938 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.425A>G (p.His142Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001041507]|Inborn genetic diseases [RCV004031254] Chr16:725423 [GRCh38]
Chr16:775423 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.436-2A>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001061852] Chr16:725295 [GRCh38]
Chr16:775295 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.268-3C>T single nucleotide variant CCDC78-related disorder [RCV003943302]|Congenital myopathy with internal nuclei and atypical cores [RCV001052282]|not provided [RCV000995449] Chr16:725583 [GRCh38]
Chr16:775583 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.101G>A (p.Gly34Glu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001053196] Chr16:726045 [GRCh38]
Chr16:776045 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1060G>A (p.Gly354Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001053277] Chr16:723930 [GRCh38]
Chr16:773930 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001378030.1(CCDC78):c.50G>A (p.Arg17Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000808667] Chr16:726318 [GRCh38]
Chr16:776318 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.866A>T (p.Glu289Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000806322] Chr16:724409 [GRCh38]
Chr16:774409 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.927G>A (p.Arg309=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000873902]|not provided [RCV001310307] Chr16:724348 [GRCh38]
Chr16:774348 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.804G>A (p.Thr268=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001429192] Chr16:724471 [GRCh38]
Chr16:774471 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.827C>T (p.Ala276Val) single nucleotide variant CCDC78-related disorder [RCV003938389]|Congenital myopathy with internal nuclei and atypical cores [RCV000878237] Chr16:724448 [GRCh38]
Chr16:774448 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.918G>C (p.Leu306=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000876910]|not provided [RCV001683684] Chr16:724357 [GRCh38]
Chr16:774357 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001378030.1(CCDC78):c.297G>A (p.Glu99=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001464412] Chr16:725551 [GRCh38]
Chr16:775551 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.801C>T (p.Thr267=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001414521] Chr16:724474 [GRCh38]
Chr16:774474 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.220C>T (p.His74Tyr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000820853] Chr16:725841 [GRCh38]
Chr16:775841 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.755G>A (p.Trp252Ter) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000914903] Chr16:724691 [GRCh38]
Chr16:774691 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.433C>T (p.Gln145Ter) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000797788] Chr16:725415 [GRCh38]
Chr16:775415 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.508_512del (p.Lys170fs) microsatellite Congenital myopathy with internal nuclei and atypical cores [RCV000801250] Chr16:725126..725130 [GRCh38]
Chr16:775126..775130 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.199G>A (p.Asp67Asn) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000819542] Chr16:725862 [GRCh38]
Chr16:775862 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.923G>A (p.Arg308His) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000808315] Chr16:724352 [GRCh38]
Chr16:774352 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1114G>C (p.Gly372Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000802178] Chr16:723876 [GRCh38]
Chr16:773876 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1136G>A (p.Gly379Asp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001213564]|not provided [RCV000991779] Chr16:723159 [GRCh38]
Chr16:773159 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.246A>C (p.Glu82Asp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000813173]|Inborn genetic diseases [RCV004601288] Chr16:725815 [GRCh38]
Chr16:775815 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.247A>G (p.Ile83Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000793888] Chr16:725814 [GRCh38]
Chr16:775814 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.668G>A (p.Arg223His) single nucleotide variant CCDC78-related disorder [RCV003955511]|Congenital myopathy with internal nuclei and atypical cores [RCV000797191] Chr16:724778 [GRCh38]
Chr16:774778 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.46C>G (p.Arg16Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000801135] Chr16:726322 [GRCh38]
Chr16:776322 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.782C>G (p.Ala261Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000818845] Chr16:724493 [GRCh38]
Chr16:774493 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.856C>T (p.Arg286Cys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000807288] Chr16:724419 [GRCh38]
Chr16:774419 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.1059C>T (p.Gly353=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000812632] Chr16:723931 [GRCh38]
Chr16:773931 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.436-7C>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000784919] Chr16:725300 [GRCh38]
Chr16:775300 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.492+6T>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000823046] Chr16:725231 [GRCh38]
Chr16:775231 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.102G>C (p.Gly34=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001399260] Chr16:726044 [GRCh38]
Chr16:776044 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_624055)_(2115656_?)del deletion Tuberous sclerosis 2 [RCV000811345] Chr16:624055..2115656 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001378030.1(CCDC78):c.613G>A (p.Gly205Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000823711] Chr16:724937 [GRCh38]
Chr16:774937 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.765+9T>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002064814] Chr16:724672 [GRCh38]
Chr16:774672 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 copy number loss not provided [RCV000849039] Chr16:85880..2053328 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1468459)x1 copy number loss not provided [RCV000848130] Chr16:85880..1468459 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-830613)x1 copy number loss not provided [RCV000846660] Chr16:85880..830613 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1166355)x1 copy number loss not provided [RCV001006741] Chr16:85880..1166355 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001378030.1(CCDC78):c.329G>T (p.Gly110Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001216846] Chr16:725519 [GRCh38]
Chr16:775519 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.999C>G (p.Asp333Glu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001225859] Chr16:724160 [GRCh38]
Chr16:774160 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.341C>G (p.Pro114Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001217433] Chr16:725507 [GRCh38]
Chr16:775507 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.954G>A (p.Arg318=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001220662] Chr16:724205 [GRCh38]
Chr16:774205 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.955_956delinsAA (p.Ala319Lys) indel Congenital myopathy with internal nuclei and atypical cores [RCV001217799] Chr16:724203..724204 [GRCh38]
Chr16:774203..774204 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.890G>A (p.Arg297His) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001219049]|Inborn genetic diseases [RCV004032347] Chr16:724385 [GRCh38]
Chr16:774385 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000985186] Chr16:724464 [GRCh38]
Chr16:774464 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_001378030.1(CCDC78):c.191_194dup (p.Val66fs) duplication Congenital myopathy with internal nuclei and atypical cores [RCV001211433] Chr16:725866..725867 [GRCh38]
Chr16:775866..775867 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1134-206C>A single nucleotide variant not provided [RCV001695468] Chr16:723367 [GRCh38]
Chr16:773367 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.*78T>G single nucleotide variant not provided [RCV001710935] Chr16:722600 [GRCh38]
Chr16:772600 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.1083C>T (p.Ser361=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000954567] Chr16:723907 [GRCh38]
Chr16:773907 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1189C>T (p.Arg397Cys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000872428]|not provided [RCV001709692] Chr16:723106 [GRCh38]
Chr16:773106 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001378030.1(CCDC78):c.1014C>A (p.Pro338=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001459063] Chr16:724145 [GRCh38]
Chr16:774145 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.780T>C (p.Gly260=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000982324] Chr16:724495 [GRCh38]
Chr16:774495 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.267+10C>T single nucleotide variant CCDC78-related disorder [RCV004746116]|Congenital myopathy with internal nuclei and atypical cores [RCV000873697] Chr16:725784 [GRCh38]
Chr16:775784 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.80A>G (p.Asp27Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001222672] Chr16:726066 [GRCh38]
Chr16:776066 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.40C>T (p.Pro14Ser) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001243274] Chr16:726328 [GRCh38]
Chr16:776328 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.736C>T (p.Arg246Trp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001220181]|Inborn genetic diseases [RCV002562500] Chr16:724710 [GRCh38]
Chr16:774710 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1178G>A (p.Arg393Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001224264]|Inborn genetic diseases [RCV004032500] Chr16:723117 [GRCh38]
Chr16:773117 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.238G>A (p.Glu80Lys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001220939] Chr16:725823 [GRCh38]
Chr16:775823 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.862C>T (p.Arg288Cys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001241686]|Inborn genetic diseases [RCV002564007]|not provided [RCV001355332] Chr16:724413 [GRCh38]
Chr16:774413 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.325C>T (p.Gln109Ter) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001247026] Chr16:725523 [GRCh38]
Chr16:775523 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2148005_?)del deletion Tuberous sclerosis 2 [RCV001033183] Chr16:624055..2148005 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001378030.1(CCDC78):c.462C>T (p.Pro154=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV000935467] Chr16:725267 [GRCh38]
Chr16:775267 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1143C>T (p.Asp381=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001489718] Chr16:723152 [GRCh38]
Chr16:773152 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.60+69G>A single nucleotide variant not provided [RCV001717550] Chr16:726239 [GRCh38]
Chr16:776239 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.1302-53A>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001544413]|not provided [RCV001676049] Chr16:722842 [GRCh38]
Chr16:772842 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.-32C>T single nucleotide variant not provided [RCV001598921] Chr16:726399 [GRCh38]
Chr16:776399 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.155C>T (p.Ala52Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001035560] Chr16:725991 [GRCh38]
Chr16:775991 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.107C>G (p.Thr36Ser) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001045260] Chr16:726039 [GRCh38]
Chr16:776039 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:364182-1186480)x3 copy number gain not provided [RCV001006744] Chr16:364182..1186480 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001378030.1(CCDC78):c.1054-63C>A single nucleotide variant not provided [RCV001609649] Chr16:723999 [GRCh38]
Chr16:773999 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.268-25C>T single nucleotide variant not provided [RCV001611492] Chr16:725605 [GRCh38]
Chr16:775605 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.1302-59G>A single nucleotide variant not provided [RCV001685564] Chr16:722848 [GRCh38]
Chr16:772848 [GRCh37]
Chr16:16p13.3		 benign
NC_000016.10:g.(?_722760)_(726377_?)dup duplication Congenital myopathy with internal nuclei and atypical cores [RCV001031373] Chr16:772760..776377 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001038657]|Inborn genetic diseases [RCV003363055] Chr16:724930 [GRCh38]
Chr16:774930 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.267G>A (p.Glu89=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001058477] Chr16:725794 [GRCh38]
Chr16:775794 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.574C>T (p.Arg192Trp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001205134] Chr16:724976 [GRCh38]
Chr16:774976 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.47G>A (p.Arg16Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001232820] Chr16:726321 [GRCh38]
Chr16:776321 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.196G>A (p.Val66Ile) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001208077]|Inborn genetic diseases [RCV002561668]|not provided [RCV001354253] Chr16:725865 [GRCh38]
Chr16:775865 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.931G>T (p.Glu311Ter) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001048191] Chr16:724344 [GRCh38]
Chr16:774344 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1178G>C (p.Arg393Pro) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001236471] Chr16:723117 [GRCh38]
Chr16:773117 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.845G>A (p.Arg282Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001035086]|Inborn genetic diseases [RCV002552078] Chr16:724430 [GRCh38]
Chr16:774430 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.275G>A (p.Arg92Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001215189]|Inborn genetic diseases [RCV002561860] Chr16:725573 [GRCh38]
Chr16:775573 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.769C>T (p.His257Tyr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001294904] Chr16:724506 [GRCh38]
Chr16:774506 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2153916_?)dup duplication Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] Chr16:624055..2153916 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001378030.1(CCDC78):c.680C>T (p.Ala227Val) single nucleotide variant Inborn genetic diseases [RCV004609881] Chr16:724766 [GRCh38]
Chr16:774766 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.432C>G (p.Phe144Leu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001338305] Chr16:725416 [GRCh38]
Chr16:775416 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.658G>A (p.Gly220Ser) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001308353] Chr16:724788 [GRCh38]
Chr16:774788 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.26C>T (p.Pro9Leu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001325211] Chr16:726342 [GRCh38]
Chr16:776342 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1114G>A (p.Gly372Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001315056] Chr16:723876 [GRCh38]
Chr16:773876 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1302-1G>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001299393] Chr16:722790 [GRCh38]
Chr16:772790 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1043G>T (p.Arg348Leu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001297422] Chr16:724116 [GRCh38]
Chr16:774116 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.180+3G>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001340817] Chr16:725963 [GRCh38]
Chr16:775963 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.499G>A (p.Gly167Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001315414] Chr16:725139 [GRCh38]
Chr16:775139 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.252C>G (p.Phe84Leu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001316351] Chr16:725809 [GRCh38]
Chr16:775809 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.61G>A (p.Val21Ile) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001309624] Chr16:726085 [GRCh38]
Chr16:776085 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.857G>A (p.Arg286His) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001327839] Chr16:724418 [GRCh38]
Chr16:774418 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.924C>T (p.Arg308=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001338793] Chr16:724351 [GRCh38]
Chr16:774351 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.763_765+5del deletion Congenital myopathy with internal nuclei and atypical cores [RCV001325691] Chr16:724676..724683 [GRCh38]
Chr16:774676..774683 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.760G>A (p.Ala254Thr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001360747] Chr16:724686 [GRCh38]
Chr16:774686 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1230G>A (p.Leu410=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001372861] Chr16:722993 [GRCh38]
Chr16:772993 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.51G>T (p.Arg17=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001433786] Chr16:726317 [GRCh38]
Chr16:776317 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1299C>A (p.Gly433=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001337643] Chr16:722924 [GRCh38]
Chr16:772924 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.169C>A (p.Gln57Lys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001371687] Chr16:725977 [GRCh38]
Chr16:775977 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.736C>G (p.Arg246Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001327685] Chr16:724710 [GRCh38]
Chr16:774710 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.211A>G (p.Thr71Ala) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001372489] Chr16:725850 [GRCh38]
Chr16:775850 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_772760)_(776377_?)del deletion Congenital myopathy with internal nuclei and atypical cores [RCV001345209] Chr16:772760..776377 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_765584)_(1204036_?)del deletion Idiopathic generalized epilepsy [RCV001352399] Chr16:765584..1204036 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.327G>C (p.Gln109His) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001363593] Chr16:725521 [GRCh38]
Chr16:775521 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.902A>G (p.Lys301Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001301168] Chr16:724373 [GRCh38]
Chr16:774373 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.571_582del (p.Gly191_Leu194del) deletion Congenital myopathy with internal nuclei and atypical cores [RCV001366213] Chr16:724968..724979 [GRCh38]
Chr16:774968..774979 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.47G>C (p.Arg16Pro) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001359920] Chr16:726321 [GRCh38]
Chr16:776321 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.729C>T (p.Tyr243=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001421576] Chr16:724717 [GRCh38]
Chr16:774717 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1134-19C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001335566] Chr16:723180 [GRCh38]
Chr16:773180 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001378030.1(CCDC78):c.593G>A (p.Arg198Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001359517] Chr16:724957 [GRCh38]
Chr16:774957 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1012C>A (p.Pro338Thr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001371451] Chr16:724147 [GRCh38]
Chr16:774147 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.109G>A (p.Ala37Thr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001298343] Chr16:726037 [GRCh38]
Chr16:776037 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.628A>T (p.Thr210Ser) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001366049] Chr16:724922 [GRCh38]
Chr16:774922 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.348G>A (p.Glu116=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001482110] Chr16:725500 [GRCh38]
Chr16:775500 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1219C>T (p.Arg407Trp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001475023] Chr16:723004 [GRCh38]
Chr16:773004 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.765+7C>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001399259] Chr16:724674 [GRCh38]
Chr16:774674 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.852G>C (p.Ala284=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001455347] Chr16:724423 [GRCh38]
Chr16:774423 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1044G>A (p.Arg348=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001470689]|not provided [RCV004706195] Chr16:724115 [GRCh38]
Chr16:774115 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.741G>A (p.Leu247=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001426132] Chr16:724705 [GRCh38]
Chr16:774705 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.330C>T (p.Gly110=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001418502] Chr16:725518 [GRCh38]
Chr16:775518 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1220G>A (p.Arg407Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001432701]|not provided [RCV004706140] Chr16:723003 [GRCh38]
Chr16:773003 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.969C>A (p.Pro323=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001401064] Chr16:724190 [GRCh38]
Chr16:774190 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1213C>T (p.Arg405Trp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001398827] Chr16:723010 [GRCh38]
Chr16:773010 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1301+10G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001454335] Chr16:722912 [GRCh38]
Chr16:772912 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1053+43_1053+60del deletion not provided [RCV001619347] Chr16:724046..724063 [GRCh38]
Chr16:774046..774063 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.1054-62G>A single nucleotide variant not provided [RCV001615451] Chr16:723998 [GRCh38]
Chr16:773998 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.832C>T (p.Leu278=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001462694] Chr16:724443 [GRCh38]
Chr16:774443 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1200+9C>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001480309] Chr16:723086 [GRCh38]
Chr16:773086 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1302-10C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001496902] Chr16:722799 [GRCh38]
Chr16:772799 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1200+10_1200+15del deletion Congenital myopathy with internal nuclei and atypical cores [RCV001471374] Chr16:723080..723085 [GRCh38]
Chr16:773080..773085 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1134-180C>T single nucleotide variant not provided [RCV001678912] Chr16:723341 [GRCh38]
Chr16:773341 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.9C>T (p.His3=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001472784] Chr16:726359 [GRCh38]
Chr16:776359 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.666C>G (p.Leu222=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001460367] Chr16:724780 [GRCh38]
Chr16:774780 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.61-4C>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001461013] Chr16:726089 [GRCh38]
Chr16:776089 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.51G>A (p.Arg17=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001502488] Chr16:726317 [GRCh38]
Chr16:776317 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.771C>T (p.His257=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001477325] Chr16:724504 [GRCh38]
Chr16:774504 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.585G>A (p.Gln195=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001434818] Chr16:724965 [GRCh38]
Chr16:774965 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.552G>A (p.Val184=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001398505] Chr16:725086 [GRCh38]
Chr16:775086 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.493-8C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001452589] Chr16:725153 [GRCh38]
Chr16:775153 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.178C>G (p.Gln60Glu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003109070] Chr16:725968 [GRCh38]
Chr16:775968 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1200+14_1200+18del deletion Congenital myopathy with internal nuclei and atypical cores [RCV002726168] Chr16:723077..723081 [GRCh38]
Chr16:773077..773081 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378033.1(CCDC78):c.-226+151C>G single nucleotide variant not provided [RCV001757673] Chr16:726638 [GRCh38]
Chr16:776638 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378033.1(CCDC78):c.-226+192T>G single nucleotide variant not provided [RCV001769670] Chr16:726597 [GRCh38]
Chr16:776597 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1237C>T (p.Arg413Trp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002074034]|not provided [RCV001752897] Chr16:722986 [GRCh38]
Chr16:772986 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.268-74T>C single nucleotide variant not provided [RCV001759361] Chr16:725654 [GRCh38]
Chr16:775654 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.*18AGAGC[5] microsatellite not provided [RCV001757707] Chr16:722645..722646 [GRCh38]
Chr16:772645..772646 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.639+52G>C single nucleotide variant not provided [RCV001769940] Chr16:724859 [GRCh38]
Chr16:774859 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001031737.2(CCDC78):c.-87T>G single nucleotide variant not provided [RCV001757708] Chr16:726454 [GRCh38]
Chr16:776454 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.639+21C>T single nucleotide variant not provided [RCV001752963] Chr16:724890 [GRCh38]
Chr16:774890 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.893G>C (p.Ser298Thr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001896225]|Inborn genetic diseases [RCV004041456] Chr16:724382 [GRCh38]
Chr16:774382 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.435+7A>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001929197] Chr16:725406 [GRCh38]
Chr16:775406 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1247T>C (p.Met416Thr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001950671]|not provided [RCV004694028] Chr16:722976 [GRCh38]
Chr16:772976 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.703_708dup (p.233QL[3]) duplication Congenital myopathy with internal nuclei and atypical cores [RCV001971775] Chr16:724737..724738 [GRCh38]
Chr16:774737..774738 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.929A>G (p.His310Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001911147] Chr16:724346 [GRCh38]
Chr16:774346 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.493C>T (p.Leu165=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001895716] Chr16:725145 [GRCh38]
Chr16:775145 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1052A>G (p.Gln351Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001986215] Chr16:724107 [GRCh38]
Chr16:774107 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1124C>G (p.Ser375Ter) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002021036] Chr16:723866 [GRCh38]
Chr16:773866 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.467A>G (p.Asn156Ser) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001914694] Chr16:725262 [GRCh38]
Chr16:775262 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.50G>T (p.Arg17Leu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001987511] Chr16:726318 [GRCh38]
Chr16:776318 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.165G>T (p.Lys55Asn) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002044540] Chr16:725981 [GRCh38]
Chr16:775981 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.930T>G (p.His310Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001971713]|Inborn genetic diseases [RCV003170317] Chr16:724345 [GRCh38]
Chr16:774345 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1277A>C (p.Glu426Ala) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002005007] Chr16:722946 [GRCh38]
Chr16:772946 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.545C>T (p.Ala182Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002005634] Chr16:725093 [GRCh38]
Chr16:775093 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1133+16G>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001888927] Chr16:723841 [GRCh38]
Chr16:773841 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1015G>T (p.Val339Leu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002042129] Chr16:724144 [GRCh38]
Chr16:774144 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1177C>T (p.Arg393Trp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001889800] Chr16:723118 [GRCh38]
Chr16:773118 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1278G>A (p.Glu426=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001890070] Chr16:722945 [GRCh38]
Chr16:772945 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1201-1G>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002002777] Chr16:723023 [GRCh38]
Chr16:773023 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-1468828) copy number loss not specified [RCV002052500] Chr16:85880..1468828 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001378030.1(CCDC78):c.367C>T (p.Arg123Trp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001947140]|Inborn genetic diseases [RCV004040383] Chr16:725481 [GRCh38]
Chr16:775481 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.509A>T (p.Lys170Met) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001913328] Chr16:725129 [GRCh38]
Chr16:775129 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.692G>T (p.Arg231Leu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001893529]|not provided [RCV003326593] Chr16:724754 [GRCh38]
Chr16:774754 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.886G>A (p.Ala296Thr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002021056] Chr16:724389 [GRCh38]
Chr16:774389 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1287C>T (p.Asp429=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001914201] Chr16:722936 [GRCh38]
Chr16:772936 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.844C>T (p.Arg282Trp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001893437] Chr16:724431 [GRCh38]
Chr16:774431 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.307C>T (p.Arg103Ter) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001986571] Chr16:725541 [GRCh38]
Chr16:775541 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.139G>A (p.Val47Ile) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001943877] Chr16:726007 [GRCh38]
Chr16:776007 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.29G>A (p.Arg10Lys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001922247] Chr16:726339 [GRCh38]
Chr16:776339 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.364C>T (p.Pro122Ser) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002032983] Chr16:725484 [GRCh38]
Chr16:775484 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.934G>A (p.Glu312Lys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002030153] Chr16:724341 [GRCh38]
Chr16:774341 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1054-9C>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001886439] Chr16:723945 [GRCh38]
Chr16:773945 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.953+3G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001901239] Chr16:724319 [GRCh38]
Chr16:774319 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1A>G (p.Met1Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001930672] Chr16:726367 [GRCh38]
Chr16:776367 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.721G>A (p.Asp241Asn) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001917491]|Inborn genetic diseases [RCV004039128] Chr16:724725 [GRCh38]
Chr16:774725 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.463G>A (p.Glu155Lys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001939900] Chr16:725266 [GRCh38]
Chr16:775266 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.611C>A (p.Ala204Asp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001880391] Chr16:724939 [GRCh38]
Chr16:774939 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.860G>C (p.Ser287Thr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002011839] Chr16:724415 [GRCh38]
Chr16:774415 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1233G>A (p.Leu411=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002027451] Chr16:722990 [GRCh38]
Chr16:772990 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.615G>T (p.Gly205=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002028666] Chr16:724935 [GRCh38]
Chr16:774935 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.15dup (p.Thr6fs) duplication Congenital myopathy with internal nuclei and atypical cores [RCV001991643]|not provided [RCV003389890] Chr16:726352..726353 [GRCh38]
Chr16:776352..776353 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1133+13A>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002013528] Chr16:723844 [GRCh38]
Chr16:773844 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.844C>G (p.Arg282Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002026315]|Inborn genetic diseases [RCV002550427] Chr16:724431 [GRCh38]
Chr16:774431 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.435+13A>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001902849] Chr16:725400 [GRCh38]
Chr16:775400 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.884C>A (p.Ala295Asp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002051304] Chr16:724391 [GRCh38]
Chr16:774391 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.256C>G (p.Leu86Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002013916] Chr16:725805 [GRCh38]
Chr16:775805 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.286C>T (p.Arg96Trp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002017116] Chr16:725562 [GRCh38]
Chr16:775562 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1070C>T (p.Ala357Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001992613] Chr16:723920 [GRCh38]
Chr16:773920 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1057G>A (p.Gly353Ser) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002051003] Chr16:723933 [GRCh38]
Chr16:773933 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.328G>T (p.Gly110Cys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002034373] Chr16:725520 [GRCh38]
Chr16:775520 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.897C>A (p.Tyr299Ter) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001907079] Chr16:724378 [GRCh38]
Chr16:774378 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.400del (p.Gln134fs) deletion Congenital myopathy with internal nuclei and atypical cores [RCV002011064] Chr16:725448 [GRCh38]
Chr16:775448 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.60+2T>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002019231] Chr16:726306 [GRCh38]
Chr16:776306 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1099G>A (p.Gly367Ser) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001990834] Chr16:723891 [GRCh38]
Chr16:773891 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.14C>T (p.Ala5Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001904477] Chr16:726354 [GRCh38]
Chr16:776354 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1033T>C (p.Phe345Leu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002049418] Chr16:724126 [GRCh38]
Chr16:774126 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.851C>T (p.Ala284Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002036483]|Inborn genetic diseases [RCV003250439] Chr16:724424 [GRCh38]
Chr16:774424 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.344T>C (p.Val115Ala) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001925411] Chr16:725504 [GRCh38]
Chr16:775504 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.580C>T (p.Leu194=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001953898] Chr16:724970 [GRCh38]
Chr16:774970 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.771C>G (p.His257Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001902737] Chr16:724504 [GRCh38]
Chr16:774504 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1133+5G>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001866495] Chr16:723852 [GRCh38]
Chr16:773852 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.548_549delinsGA (p.Leu183Arg) indel Congenital myopathy with internal nuclei and atypical cores [RCV001881344] Chr16:725089..725090 [GRCh38]
Chr16:775089..775090 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.34G>T (p.Gly12Ter) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV001953353] Chr16:726334 [GRCh38]
Chr16:776334 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.219C>T (p.His73=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002145399] Chr16:725842 [GRCh38]
Chr16:775842 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1200+10A>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002206826] Chr16:723085 [GRCh38]
Chr16:773085 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1020C>T (p.Pro340=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002169790] Chr16:724139 [GRCh38]
Chr16:774139 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.181-14C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002108879] Chr16:725894 [GRCh38]
Chr16:775894 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.61-14C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002186481] Chr16:726099 [GRCh38]
Chr16:776099 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1302-19G>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002209137] Chr16:722808 [GRCh38]
Chr16:772808 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.639+13C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002127925] Chr16:724898 [GRCh38]
Chr16:774898 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.882G>A (p.Arg294=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002086647] Chr16:724393 [GRCh38]
Chr16:774393 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.28A>G (p.Arg10Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002108665]|Inborn genetic diseases [RCV004046471] Chr16:726340 [GRCh38]
Chr16:776340 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.258G>A (p.Leu86=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002205901] Chr16:725803 [GRCh38]
Chr16:775803 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.492+10C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002188133] Chr16:725227 [GRCh38]
Chr16:775227 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.435+19A>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002191838] Chr16:725394 [GRCh38]
Chr16:775394 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1200+12G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002072823] Chr16:723083 [GRCh38]
Chr16:773083 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.42C>G (p.Pro14=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002144836] Chr16:726326 [GRCh38]
Chr16:776326 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.198C>T (p.Val66=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002126778] Chr16:725863 [GRCh38]
Chr16:775863 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.252C>T (p.Phe84=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002169077] Chr16:725809 [GRCh38]
Chr16:775809 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1201-11C>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002185858] Chr16:723033 [GRCh38]
Chr16:773033 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.474G>A (p.Gln158=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002214848] Chr16:725255 [GRCh38]
Chr16:775255 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.639+17_639+20del deletion Congenital myopathy with internal nuclei and atypical cores [RCV002076254] Chr16:724891..724894 [GRCh38]
Chr16:774891..774894 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.861C>T (p.Ser287=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002216229] Chr16:724414 [GRCh38]
Chr16:774414 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.726G>A (p.Glu242=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002113490] Chr16:724720 [GRCh38]
Chr16:774720 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.561-9T>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002079147] Chr16:724998 [GRCh38]
Chr16:774998 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1056C>T (p.His352=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002194185] Chr16:723934 [GRCh38]
Chr16:773934 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.924C>A (p.Arg308=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002115335] Chr16:724351 [GRCh38]
Chr16:774351 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.268-19C>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002095546] Chr16:725599 [GRCh38]
Chr16:775599 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.640-5C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002186216] Chr16:724811 [GRCh38]
Chr16:774811 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.640-17G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002078310] Chr16:724823 [GRCh38]
Chr16:774823 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.303G>A (p.Glu101=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002096592] Chr16:725545 [GRCh38]
Chr16:775545 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1252G>A (p.Glu418Lys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002174700] Chr16:722971 [GRCh38]
Chr16:772971 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.240G>A (p.Glu80=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002114428] Chr16:725821 [GRCh38]
Chr16:775821 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.180+20G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002150471] Chr16:725946 [GRCh38]
Chr16:775946 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.294G>A (p.Leu98=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002091125] Chr16:725554 [GRCh38]
Chr16:775554 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1009T>C (p.Leu337=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002212578] Chr16:724150 [GRCh38]
Chr16:774150 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.267+11G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002115708] Chr16:725783 [GRCh38]
Chr16:775783 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.1053+12G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002076935] Chr16:724094 [GRCh38]
Chr16:774094 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.1054-14A>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002116675] Chr16:723950 [GRCh38]
Chr16:773950 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1053+13A>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002130351] Chr16:724093 [GRCh38]
Chr16:774093 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1134-15C>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002156606] Chr16:723176 [GRCh38]
Chr16:773176 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.766-8G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002120651] Chr16:724517 [GRCh38]
Chr16:774517 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.560+11A>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002153916] Chr16:725067 [GRCh38]
Chr16:775067 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.765+19C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002159970] Chr16:724662 [GRCh38]
Chr16:774662 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.640-13G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002163306] Chr16:724819 [GRCh38]
Chr16:774819 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.810C>A (p.Leu270=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002139607] Chr16:724465 [GRCh38]
Chr16:774465 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1053+20G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002100408] Chr16:724086 [GRCh38]
Chr16:774086 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.1134-7C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002098809] Chr16:723168 [GRCh38]
Chr16:773168 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.180+14C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002183787] Chr16:725952 [GRCh38]
Chr16:775952 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.828G>A (p.Ala276=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002136642] Chr16:724447 [GRCh38]
Chr16:774447 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.953+15del deletion Congenital myopathy with internal nuclei and atypical cores [RCV002178918] Chr16:724307 [GRCh38]
Chr16:774307 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.1054-20C>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002142263] Chr16:723956 [GRCh38]
Chr16:773956 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1207C>T (p.Leu403=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002101773] Chr16:723016 [GRCh38]
Chr16:773016 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1200+18G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002200181] Chr16:723077 [GRCh38]
Chr16:773077 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.567C>T (p.Thr189=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002161392] Chr16:724983 [GRCh38]
Chr16:774983 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.495G>A (p.Leu165=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002177790] Chr16:725143 [GRCh38]
Chr16:775143 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.268-19C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002118711] Chr16:725599 [GRCh38]
Chr16:775599 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.435+17G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002099399] Chr16:725396 [GRCh38]
Chr16:775396 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.180+19C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002159640] Chr16:725947 [GRCh38]
Chr16:775947 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.180+9G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002202256] Chr16:725957 [GRCh38]
Chr16:775957 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.435+13AT[3] microsatellite Congenital myopathy with internal nuclei and atypical cores [RCV002183735] Chr16:725396..725397 [GRCh38]
Chr16:775396..775397 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.846G>C (p.Arg282=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002184259] Chr16:724429 [GRCh38]
Chr16:774429 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.640-11T>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002099691] Chr16:724817 [GRCh38]
Chr16:774817 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(1843653_?)del deletion Idiopathic generalized epilepsy [RCV003109815] Chr16:256302..1843653 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(1657267_?)del deletion Saldino-Mainzer syndrome [RCV003116765]|not provided [RCV003116766] Chr16:256302..1657267 [GRCh37]
Chr16:16p13.3		 pathogenic|no classifications from unflagged records
NC_000016.9:g.(?_772770)_(776367_?)dup duplication Congenital myopathy with internal nuclei and atypical cores [RCV003122332] Chr16:772770..776367 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(1918176_?)del deletion not provided [RCV003119703] Chr16:256302..1918176 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.492+14C>T single nucleotide variant not specified [RCV003230940] Chr16:725223 [GRCh38]
Chr16:775223 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001378030.1(CCDC78):c.1053+1G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002281667] Chr16:724105 [GRCh38]
Chr16:774105 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.197T>G (p.Val66Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003647969]|Inborn genetic diseases [RCV003263433] Chr16:725864 [GRCh38]
Chr16:775864 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85881-1350186)x1 copy number loss not provided [RCV002474576] Chr16:85881..1350186 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:726789-1066511)x1 copy number loss not provided [RCV002473519] Chr16:726789..1066511 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1015G>A (p.Val339Met) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003144701] Chr16:724144 [GRCh38]
Chr16:774144 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1187C>G (p.Ser396Cys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002299877] Chr16:723108 [GRCh38]
Chr16:773108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.922_923delinsGA (p.Arg308Asp) indel Congenital myopathy with internal nuclei and atypical cores [RCV002299096] Chr16:724352..724353 [GRCh38]
Chr16:774352..774353 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.679G>T (p.Ala227Ser) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003032301] Chr16:724767 [GRCh38]
Chr16:774767 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.180+10G>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002776368] Chr16:725956 [GRCh38]
Chr16:775956 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.958C>T (p.Pro320Ser) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002995877] Chr16:724201 [GRCh38]
Chr16:774201 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1105G>A (p.Ala369Thr) single nucleotide variant Inborn genetic diseases [RCV002884051] Chr16:723885 [GRCh38]
Chr16:773885 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.385C>A (p.Leu129Ile) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002756135] Chr16:725463 [GRCh38]
Chr16:775463 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1054-19C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002618782] Chr16:723955 [GRCh38]
Chr16:773955 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.765+13G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002685946] Chr16:724668 [GRCh38]
Chr16:774668 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.688G>A (p.Ala230Thr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002616519] Chr16:724758 [GRCh38]
Chr16:774758 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.765+10G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002861362] Chr16:724671 [GRCh38]
Chr16:774671 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.377C>T (p.Ala126Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002970658] Chr16:725471 [GRCh38]
Chr16:775471 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.953+19G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002861704] Chr16:724303 [GRCh38]
Chr16:774303 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.555G>A (p.Thr185=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003015455] Chr16:725083 [GRCh38]
Chr16:775083 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1182C>T (p.Asp394=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002615151] Chr16:723113 [GRCh38]
Chr16:773113 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1134-14C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003075638] Chr16:723175 [GRCh38]
Chr16:773175 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.60+3G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002908646] Chr16:726305 [GRCh38]
Chr16:776305 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.616C>T (p.Gln206Ter) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002976690] Chr16:724934 [GRCh38]
Chr16:774934 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.50G>C (p.Arg17Pro) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002696206] Chr16:726318 [GRCh38]
Chr16:776318 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1134-20C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002800282] Chr16:723181 [GRCh38]
Chr16:773181 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.852G>A (p.Ala284=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002620526] Chr16:724423 [GRCh38]
Chr16:774423 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.515C>T (p.Ala172Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002913841] Chr16:725123 [GRCh38]
Chr16:775123 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.435+17G>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002889639] Chr16:725396 [GRCh38]
Chr16:775396 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.71G>A (p.Arg24Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002914348] Chr16:726075 [GRCh38]
Chr16:776075 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.61-13G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002886369] Chr16:726098 [GRCh38]
Chr16:776098 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.13G>C (p.Ala5Pro) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002735279] Chr16:726355 [GRCh38]
Chr16:776355 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.61-2A>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002690921] Chr16:726087 [GRCh38]
Chr16:776087 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1288C>T (p.Gln430Ter) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002735522] Chr16:722935 [GRCh38]
Chr16:772935 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.49C>G (p.Arg17Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002885732] Chr16:726319 [GRCh38]
Chr16:776319 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.438G>A (p.Val146=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002637561] Chr16:725291 [GRCh38]
Chr16:775291 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.752C>A (p.Ala251Asp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002866660] Chr16:724694 [GRCh38]
Chr16:774694 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.953+20del deletion Congenital myopathy with internal nuclei and atypical cores [RCV002637232] Chr16:724302 [GRCh38]
Chr16:774302 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.268-7C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003078183] Chr16:725587 [GRCh38]
Chr16:775587 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.369G>A (p.Arg123=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003017896] Chr16:725479 [GRCh38]
Chr16:775479 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.558T>C (p.Arg186=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002847804] Chr16:725080 [GRCh38]
Chr16:775080 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1181A>G (p.Asp394Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002705878] Chr16:723114 [GRCh38]
Chr16:773114 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1302-19G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002909203] Chr16:722808 [GRCh38]
Chr16:772808 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.561-15C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003100526] Chr16:725004 [GRCh38]
Chr16:775004 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.831T>G (p.Thr277=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002866311] Chr16:724444 [GRCh38]
Chr16:774444 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.436-12C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003084691] Chr16:725305 [GRCh38]
Chr16:775305 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.645G>A (p.Leu215=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002597170] Chr16:724801 [GRCh38]
Chr16:774801 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.426_427del (p.His142fs) microsatellite Congenital myopathy with internal nuclei and atypical cores [RCV002929100] Chr16:725421..725422 [GRCh38]
Chr16:775421..775422 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.259A>G (p.Lys87Glu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002626871] Chr16:725802 [GRCh38]
Chr16:775802 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.20C>T (p.Thr7Ile) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002958630] Chr16:726348 [GRCh38]
Chr16:776348 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.561-10G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002958176] Chr16:724999 [GRCh38]
Chr16:774999 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.669T>C (p.Arg223=) single nucleotide variant CCDC78-related disorder [RCV003953942]|Congenital myopathy with internal nuclei and atypical cores [RCV002623856] Chr16:724777 [GRCh38]
Chr16:774777 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.561-19C>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002644541] Chr16:725008 [GRCh38]
Chr16:775008 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.639+4A>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002851308] Chr16:724907 [GRCh38]
Chr16:774907 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.410G>A (p.Gly137Glu) single nucleotide variant Inborn genetic diseases [RCV002891557] Chr16:725438 [GRCh38]
Chr16:775438 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.592C>G (p.Arg198Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002851976] Chr16:724958 [GRCh38]
Chr16:774958 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.367C>G (p.Arg123Gly) single nucleotide variant Inborn genetic diseases [RCV002916900] Chr16:725481 [GRCh38]
Chr16:775481 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.517C>G (p.Leu173Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002664061] Chr16:725121 [GRCh38]
Chr16:775121 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.198C>G (p.Val66=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002791354] Chr16:725863 [GRCh38]
Chr16:775863 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.402G>A (p.Gln134=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003058370] Chr16:725446 [GRCh38]
Chr16:775446 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.691C>T (p.Arg231Trp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003777940]|Inborn genetic diseases [RCV002915784] Chr16:724755 [GRCh38]
Chr16:774755 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1133+14T>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002915037] Chr16:723843 [GRCh38]
Chr16:773843 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.249C>A (p.Ile83=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003006061] Chr16:725812 [GRCh38]
Chr16:775812 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.231G>A (p.Glu77=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002675671] Chr16:725830 [GRCh38]
Chr16:775830 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.732C>T (p.Val244=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002581896] Chr16:724714 [GRCh38]
Chr16:774714 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1201-7A>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002746062] Chr16:723029 [GRCh38]
Chr16:773029 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.268-2_272del deletion Congenital myopathy with internal nuclei and atypical cores [RCV002770545] Chr16:725576..725582 [GRCh38]
Chr16:775576..775582 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.671A>G (p.Gln224Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002895298] Chr16:724775 [GRCh38]
Chr16:774775 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.436-8C>T single nucleotide variant CCDC78-related disorder [RCV003936508]|Congenital myopathy with internal nuclei and atypical cores [RCV003026556] Chr16:725301 [GRCh38]
Chr16:775301 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1005A>G (p.Glu335=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002671864] Chr16:724154 [GRCh38]
Chr16:774154 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.288G>A (p.Arg96=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002963188] Chr16:725560 [GRCh38]
Chr16:775560 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1053G>A (p.Gln351=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003063010] Chr16:724106 [GRCh38]
Chr16:774106 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.750C>T (p.Cys250=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002922587] Chr16:724696 [GRCh38]
Chr16:774696 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1070C>A (p.Ala357Glu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002629267] Chr16:723920 [GRCh38]
Chr16:773920 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.805del (p.Ala269fs) deletion Congenital myopathy with internal nuclei and atypical cores [RCV002933467] Chr16:724470 [GRCh38]
Chr16:774470 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1065T>G (p.Pro355=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002922206] Chr16:723925 [GRCh38]
Chr16:773925 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.667C>T (p.Arg223Cys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002921888] Chr16:724779 [GRCh38]
Chr16:774779 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.560+17C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002632181] Chr16:725061 [GRCh38]
Chr16:775061 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.620G>C (p.Arg207Pro) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002833237] Chr16:724930 [GRCh38]
Chr16:774930 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.287G>A (p.Arg96Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002835153]|Inborn genetic diseases [RCV002856739] Chr16:725561 [GRCh38]
Chr16:775561 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.436-15C>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003091055] Chr16:725308 [GRCh38]
Chr16:775308 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.765+17C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003061175] Chr16:724664 [GRCh38]
Chr16:774664 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.12A>G (p.Ala4=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002810223] Chr16:726356 [GRCh38]
Chr16:776356 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1311C>G (p.His437Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002603632]|Inborn genetic diseases [RCV004614374] Chr16:722780 [GRCh38]
Chr16:772780 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001378030.1(CCDC78):c.61-13G>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002604242] Chr16:726098 [GRCh38]
Chr16:776098 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1144G>A (p.Ala382Thr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002608509] Chr16:723151 [GRCh38]
Chr16:773151 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1037G>A (p.Ser346Asn) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003052538] Chr16:724122 [GRCh38]
Chr16:774122 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.224T>C (p.Leu75Pro) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003071916] Chr16:725837 [GRCh38]
Chr16:775837 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.766-19C>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002590073] Chr16:724528 [GRCh38]
Chr16:774528 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1312G>A (p.Glu438Lys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002942309] Chr16:722779 [GRCh38]
Chr16:772779 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.913G>T (p.Asp305Tyr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002587298] Chr16:724362 [GRCh38]
Chr16:774362 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.384G>A (p.Glu128=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002653533] Chr16:725464 [GRCh38]
Chr16:775464 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.548T>C (p.Leu183Pro) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003144702] Chr16:725090 [GRCh38]
Chr16:775090 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.740T>G (p.Leu247Arg) single nucleotide variant Inborn genetic diseases [RCV003194137] Chr16:724706 [GRCh38]
Chr16:774706 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.959C>T (p.Pro320Leu) single nucleotide variant Inborn genetic diseases [RCV003366808] Chr16:724200 [GRCh38]
Chr16:774200 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.706C>T (p.Leu236Phe) single nucleotide variant Inborn genetic diseases [RCV003362515] Chr16:724740 [GRCh38]
Chr16:774740 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.439C>T (p.Gln147Ter) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003874321] Chr16:725290 [GRCh38]
Chr16:775290 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85881-1657611)x1 copy number loss not provided [RCV003483253] Chr16:85881..1657611 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001378030.1(CCDC78):c.1319T>C (p.Leu440Pro) single nucleotide variant CCDC78-related disorder [RCV003400144] Chr16:722772 [GRCh38]
Chr16:772772 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.523C>G (p.His175Asp) single nucleotide variant not provided [RCV003395139] Chr16:725115 [GRCh38]
Chr16:775115 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.954-8C>A single nucleotide variant CCDC78-related disorder [RCV003400390] Chr16:724213 [GRCh38]
Chr16:774213 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1329G>A (p.Arg443=) single nucleotide variant not provided [RCV003395138] Chr16:722762 [GRCh38]
Chr16:772762 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1298G>A (p.Gly433Asp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003649046] Chr16:722925 [GRCh38]
Chr16:772925 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.406C>T (p.Pro136Ser) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003648151] Chr16:725442 [GRCh38]
Chr16:775442 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.285C>G (p.Ser95Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003648505] Chr16:725563 [GRCh38]
Chr16:775563 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.300G>A (p.Leu100=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003879526] Chr16:725548 [GRCh38]
Chr16:775548 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.717G>A (p.Leu239=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003648970] Chr16:724729 [GRCh38]
Chr16:774729 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.328G>A (p.Gly110Ser) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003648890] Chr16:725520 [GRCh38]
Chr16:775520 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.441G>A (p.Gln147=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003647553] Chr16:725288 [GRCh38]
Chr16:775288 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.553_554delinsTA (p.Thr185Ter) indel Congenital myopathy with internal nuclei and atypical cores [RCV003647674] Chr16:725084..725085 [GRCh38]
Chr16:775084..775085 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.668G>T (p.Arg223Leu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003647288] Chr16:724778 [GRCh38]
Chr16:774778 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.436-11C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003648800] Chr16:725304 [GRCh38]
Chr16:775304 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1308G>A (p.Lys436=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003648777] Chr16:722783 [GRCh38]
Chr16:772783 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.310G>T (p.Gly104Ter) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003828726] Chr16:725538 [GRCh38]
Chr16:775538 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1003G>C (p.Glu335Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003648959] Chr16:724156 [GRCh38]
Chr16:774156 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.282G>A (p.Glu94=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003648426] Chr16:725566 [GRCh38]
Chr16:775566 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.648C>T (p.Cys216=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003647604] Chr16:724798 [GRCh38]
Chr16:774798 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1134-16T>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003647549] Chr16:723177 [GRCh38]
Chr16:773177 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.860G>A (p.Ser287Asn) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003647725] Chr16:724415 [GRCh38]
Chr16:774415 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1190G>C (p.Arg397Pro) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003648980] Chr16:723105 [GRCh38]
Chr16:773105 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.267+1G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003648996] Chr16:725793 [GRCh38]
Chr16:775793 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1180G>A (p.Asp394Asn) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003649102] Chr16:723115 [GRCh38]
Chr16:773115 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1133+10C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003649063] Chr16:723847 [GRCh38]
Chr16:773847 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1075C>G (p.Leu359Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003648626] Chr16:723915 [GRCh38]
Chr16:773915 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.180+14C>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003647583] Chr16:725952 [GRCh38]
Chr16:775952 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.493-13G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003648744] Chr16:725158 [GRCh38]
Chr16:775158 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.991A>G (p.Ser331Gly) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003882667] Chr16:724168 [GRCh38]
Chr16:774168 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.838G>A (p.Asp280Asn) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003648421] Chr16:724437 [GRCh38]
Chr16:774437 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1133+3G>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003647682] Chr16:723854 [GRCh38]
Chr16:773854 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1174C>T (p.Leu392Phe) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003647720] Chr16:723121 [GRCh38]
Chr16:773121 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.267+20A>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003534093] Chr16:725774 [GRCh38]
Chr16:775774 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1292A>G (p.His431Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003534184] Chr16:722931 [GRCh38]
Chr16:772931 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1053+18C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003534162] Chr16:724088 [GRCh38]
Chr16:774088 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.159C>T (p.Leu53=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003534283] Chr16:725987 [GRCh38]
Chr16:775987 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.156G>A (p.Ala52=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003531725] Chr16:725990 [GRCh38]
Chr16:775990 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.994T>C (p.Leu332=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003531711] Chr16:724165 [GRCh38]
Chr16:774165 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.906G>A (p.Arg302=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003531860] Chr16:724369 [GRCh38]
Chr16:774369 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1054-7T>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003533888] Chr16:723943 [GRCh38]
Chr16:773943 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.329G>A (p.Gly110Asp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003533903] Chr16:725519 [GRCh38]
Chr16:775519 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.488del (p.Ser163fs) deletion Congenital myopathy with internal nuclei and atypical cores [RCV003531680] Chr16:725241 [GRCh38]
Chr16:775241 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.778G>A (p.Gly260Ser) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003531503] Chr16:724497 [GRCh38]
Chr16:774497 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1110C>T (p.Ser370=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003532446] Chr16:723880 [GRCh38]
Chr16:773880 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1201-15A>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003532530] Chr16:723037 [GRCh38]
Chr16:773037 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1134-12C>T single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003531576] Chr16:723173 [GRCh38]
Chr16:773173 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.253C>T (p.Gln85Ter) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003534247] Chr16:725808 [GRCh38]
Chr16:775808 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.229G>A (p.Glu77Lys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003531633] Chr16:725832 [GRCh38]
Chr16:775832 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.560_560+3del microsatellite Congenital myopathy with internal nuclei and atypical cores [RCV003531425] Chr16:725075..725078 [GRCh38]
Chr16:775075..775078 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.986T>C (p.Ile329Thr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003531433] Chr16:724173 [GRCh38]
Chr16:774173 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.432C>T (p.Phe144=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003534132] Chr16:725416 [GRCh38]
Chr16:775416 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.371C>A (p.Ala124Glu) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003532483] Chr16:725477 [GRCh38]
Chr16:775477 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.94G>A (p.Ala32Thr) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003532474] Chr16:726052 [GRCh38]
Chr16:776052 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1066G>A (p.Gly356Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003531512] Chr16:723924 [GRCh38]
Chr16:773924 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1301+14G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003839399] Chr16:722908 [GRCh38]
Chr16:772908 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.953+4G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003531726] Chr16:724318 [GRCh38]
Chr16:774318 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1307A>G (p.Lys436Arg) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003532464] Chr16:722784 [GRCh38]
Chr16:772784 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1042C>T (p.Arg348Trp) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003534136] Chr16:724117 [GRCh38]
Chr16:774117 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.862C>A (p.Arg288Ser) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003534200] Chr16:724413 [GRCh38]
Chr16:774413 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.791C>T (p.Ala264Val) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003531593] Chr16:724484 [GRCh38]
Chr16:774484 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.535C>A (p.Arg179=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003534035] Chr16:725103 [GRCh38]
Chr16:775103 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.295GAGCTG[3] (p.Leu102_Arg103insGluLeu) microsatellite Congenital myopathy with internal nuclei and atypical cores [RCV003815833] Chr16:725541..725542 [GRCh38]
Chr16:775541..775542 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.489C>T (p.Ser163=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003531479] Chr16:725240 [GRCh38]
Chr16:775240 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.265G>A (p.Glu89Lys) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003532460] Chr16:725796 [GRCh38]
Chr16:775796 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.765+11C>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003534110] Chr16:724670 [GRCh38]
Chr16:774670 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.798C>G (p.Ala266=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003531731] Chr16:724477 [GRCh38]
Chr16:774477 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.61-6C>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003832245] Chr16:726091 [GRCh38]
Chr16:776091 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.60+20C>G single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003832251] Chr16:726288 [GRCh38]
Chr16:776288 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.339C>T (p.Val113=) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003866286] Chr16:725509 [GRCh38]
Chr16:775509 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1054-16C>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003822073] Chr16:723952 [GRCh38]
Chr16:773952 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.61-16G>A single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003871026] Chr16:726101 [GRCh38]
Chr16:776101 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1081T>C (p.Ser361Pro) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003842122] Chr16:723909 [GRCh38]
Chr16:773909 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.526C>G (p.Gln176Glu) single nucleotide variant not provided [RCV003887312] Chr16:725112 [GRCh38]
Chr16:775112 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.1134G>A (p.Gln378=) single nucleotide variant Inborn genetic diseases [RCV004427746] Chr16:723161 [GRCh38]
Chr16:773161 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.1296G>C (p.Leu432=) single nucleotide variant Inborn genetic diseases [RCV004427749] Chr16:722927 [GRCh38]
Chr16:772927 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.726G>C (p.Glu242Asp) single nucleotide variant Inborn genetic diseases [RCV004427751] Chr16:724720 [GRCh38]
Chr16:774720 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.477C>T (p.His159=) single nucleotide variant CCDC78-related disorder [RCV003979205] Chr16:725252 [GRCh38]
Chr16:775252 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_256302)_(1557737_?)del deletion not provided [RCV004582850] Chr16:256302..1557737 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_339420)_(3767509_?)dup duplication Epilepsy [RCV004581460]|Idiopathic generalized epilepsy [RCV004581461] Chr16:339420..3767509 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_396128)_(1204056_?)dup duplication Idiopathic generalized epilepsy [RCV004581577] Chr16:396128..1204056 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001378030.1(CCDC78):c.186C>T (p.Ser62=) single nucleotide variant not specified [RCV004702934] Chr16:725875 [GRCh38]
Chr16:775875 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001378030.1(CCDC78):c.267+1G>C single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV003144704] Chr16:725793 [GRCh38]
Chr16:775793 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:610419-776308)x1 copy number loss not provided [RCV000738955] Chr16:610419..776308 [GRCh37]
Chr16:16p13.3		 benign
NM_001378030.1(CCDC78):c.477C>G (p.His159Gln) single nucleotide variant Congenital myopathy with internal nuclei and atypical cores [RCV002944004] Chr16:725252 [GRCh38]
Chr16:775252 [GRCh37]
Chr16:16p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6342
Count of miRNA genes:858
Interacting mature miRNAs:1040
Transcripts:ENST00000293889, ENST00000345165, ENST00000423653, ENST00000439619, ENST00000460023, ENST00000463539, ENST00000466708, ENST00000471861, ENST00000474647, ENST00000478979, ENST00000481804, ENST00000482152, ENST00000482878, ENST00000485091, ENST00000538176, ENST00000544996
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
407104705GWAS753681_Herythrocyte count QTL GWAS753681 (human)4e-09erythrocyte countred blood cell count (CMO:0000025)16723998723999Human
407189755GWAS838731_Hlipid measurement QTL GWAS838731 (human)0.000008lipid measurementblood lipid measurement (CMO:0000050)16724734724735Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1203 2430 2722 2245 4962 1710 2331 5 607 1941 449 2268 7187 6443 51 3726 845 1737 1613 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001031737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AE006464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY439221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC341680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000293889   ⟹   ENSP00000293889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16722,582 - 726,473 (-)Ensembl
Ensembl Acc Id: ENST00000345165   ⟹   ENSP00000316851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16722,582 - 726,443 (-)Ensembl
Ensembl Acc Id: ENST00000423653   ⟹   ENSP00000458590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16724,927 - 726,893 (-)Ensembl
Ensembl Acc Id: ENST00000439619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16724,550 - 726,444 (-)Ensembl
Ensembl Acc Id: ENST00000460023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16724,907 - 726,367 (-)Ensembl
Ensembl Acc Id: ENST00000463539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16722,582 - 726,430 (-)Ensembl
Ensembl Acc Id: ENST00000466708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16722,588 - 726,880 (-)Ensembl
Ensembl Acc Id: ENST00000471861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16725,001 - 726,954 (-)Ensembl
Ensembl Acc Id: ENST00000474647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16725,123 - 726,868 (-)Ensembl
Ensembl Acc Id: ENST00000478979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16722,583 - 726,443 (-)Ensembl
Ensembl Acc Id: ENST00000481804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16722,588 - 726,443 (-)Ensembl
Ensembl Acc Id: ENST00000482152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16722,625 - 724,635 (-)Ensembl
Ensembl Acc Id: ENST00000482878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16722,582 - 726,456 (-)Ensembl
Ensembl Acc Id: ENST00000485091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16722,582 - 726,429 (-)Ensembl
Ensembl Acc Id: ENST00000538176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16724,542 - 726,437 (-)Ensembl
Ensembl Acc Id: ENST00000544996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16724,984 - 725,855 (-)Ensembl
Ensembl Acc Id: ENST00000650995   ⟹   ENSP00000498860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16725,794 - 726,458 (-)Ensembl
Ensembl Acc Id: ENST00000682391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16722,588 - 726,456 (-)Ensembl
RefSeq Acc Id: NM_001031737   ⟹   NP_001026907
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
GRCh3716772,582 - 776,880 (-)NCBI
Build 3616712,583 - 716,460 (-)NCBI Archive
Celera16972,747 - 976,638 (-)RGD
HuRef16694,483 - 698,374 (-)ENTREZGENE
CHM1_116772,552 - 776,443 (-)NCBI
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378030   ⟹   NP_001364959
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378031   ⟹   NP_001364960
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378033   ⟹   NP_001364962
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,880 (-)NCBI
T2T-CHM13v2.016726,756 - 731,054 (-)NCBI
Sequence:
RefSeq Acc Id: NR_165382
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
Sequence:
RefSeq Acc Id: NR_165383
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,880 (-)NCBI
T2T-CHM13v2.016726,756 - 731,054 (-)NCBI
Sequence:
RefSeq Acc Id: NR_165384
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,880 (-)NCBI
T2T-CHM13v2.016726,756 - 731,054 (-)NCBI
Sequence:
RefSeq Acc Id: NR_165385
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
Sequence:
RefSeq Acc Id: NR_165386
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720838   ⟹   XP_006720901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720843   ⟹   XP_006720906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522356   ⟹   XP_011520658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522357   ⟹   XP_011520659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522358   ⟹   XP_011520660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522359   ⟹   XP_011520661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522360   ⟹   XP_011520662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522361   ⟹   XP_011520663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522362   ⟹   XP_011520664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522363   ⟹   XP_011520665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522364   ⟹   XP_011520666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522365   ⟹   XP_011520667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522366   ⟹   XP_011520668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522367   ⟹   XP_011520669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522368   ⟹   XP_011520670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522369   ⟹   XP_011520671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522370   ⟹   XP_011520672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022929   ⟹   XP_016878418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047433602   ⟹   XP_047289558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,443 (-)NCBI
RefSeq Acc Id: XM_047433603   ⟹   XP_047289559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,880 (-)NCBI
RefSeq Acc Id: XM_047433604   ⟹   XP_047289560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,880 (-)NCBI
RefSeq Acc Id: XM_047433605   ⟹   XP_047289561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,880 (-)NCBI
RefSeq Acc Id: XM_047433606   ⟹   XP_047289562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816722,582 - 726,880 (-)NCBI
RefSeq Acc Id: XM_047433607   ⟹   XP_047289563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816724,907 - 726,443 (-)NCBI
RefSeq Acc Id: XM_054379563   ⟹   XP_054235538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379564   ⟹   XP_054235539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379565   ⟹   XP_054235540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379566   ⟹   XP_054235541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379567   ⟹   XP_054235542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379568   ⟹   XP_054235543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379569   ⟹   XP_054235544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379570   ⟹   XP_054235545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379571   ⟹   XP_054235546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379572   ⟹   XP_054235547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379573   ⟹   XP_054235548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379574   ⟹   XP_054235549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379575   ⟹   XP_054235550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379576   ⟹   XP_054235551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379577   ⟹   XP_054235552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379578   ⟹   XP_054235553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379579   ⟹   XP_054235554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379580   ⟹   XP_054235555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379581   ⟹   XP_054235556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 730,617 (-)NCBI
RefSeq Acc Id: XM_054379582   ⟹   XP_054235557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 731,054 (-)NCBI
RefSeq Acc Id: XM_054379583   ⟹   XP_054235558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 731,054 (-)NCBI
RefSeq Acc Id: XM_054379584   ⟹   XP_054235559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016726,756 - 731,054 (-)NCBI
RefSeq Acc Id: XM_054379585   ⟹   XP_054235560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016729,081 - 730,617 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001026907 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364959 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364960 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364962 (Get FASTA)   NCBI Sequence Viewer  
  XP_006720901 (Get FASTA)   NCBI Sequence Viewer  
  XP_006720906 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520658 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520659 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520660 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520661 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520662 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520663 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520664 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520665 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520666 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520667 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520668 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520669 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520670 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520671 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520672 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878418 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289558 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289559 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289560 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289561 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289562 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289563 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235538 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235539 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235540 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235541 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235542 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235543 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235544 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235545 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235546 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235547 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235548 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235549 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235550 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235551 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235552 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235553 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235554 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235555 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235556 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235557 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235558 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235559 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235560 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A2IDD5 (Get FASTA)   NCBI Sequence Viewer  
  AAH42110 (Get FASTA)   NCBI Sequence Viewer  
  AAK61249 (Get FASTA)   NCBI Sequence Viewer  
  AAR13900 (Get FASTA)   NCBI Sequence Viewer  
  BAC03757 (Get FASTA)   NCBI Sequence Viewer  
  BAC87006 (Get FASTA)   NCBI Sequence Viewer  
  BAC87488 (Get FASTA)   NCBI Sequence Viewer  
  BAG60396 (Get FASTA)   NCBI Sequence Viewer  
  BAG64908 (Get FASTA)   NCBI Sequence Viewer  
  EAW85734 (Get FASTA)   NCBI Sequence Viewer  
  EAW85735 (Get FASTA)   NCBI Sequence Viewer  
  EAW85736 (Get FASTA)   NCBI Sequence Viewer  
  EAW85737 (Get FASTA)   NCBI Sequence Viewer  
  EAW85738 (Get FASTA)   NCBI Sequence Viewer  
  EAW85739 (Get FASTA)   NCBI Sequence Viewer  
  EAW85740 (Get FASTA)   NCBI Sequence Viewer  
  EAW85741 (Get FASTA)   NCBI Sequence Viewer  
  EAW85742 (Get FASTA)   NCBI Sequence Viewer  
  EAW85743 (Get FASTA)   NCBI Sequence Viewer  
  EAW85744 (Get FASTA)   NCBI Sequence Viewer  
  EAW85745 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000293889
  ENSP00000293889.6
  ENSP00000316851
  ENSP00000316851.5
  ENSP00000498860.1
RefSeq Acc Id: NP_001026907   ⟸   NM_001031737
- Peptide Label: isoform 1
- UniProtKB: Q96S12 (UniProtKB/Swiss-Prot),   Q8NAY7 (UniProtKB/Swiss-Prot),   Q8IUR3 (UniProtKB/Swiss-Prot),   Q6ZR33 (UniProtKB/Swiss-Prot),   Q6T2V5 (UniProtKB/Swiss-Prot),   Q05CA0 (UniProtKB/Swiss-Prot),   Q05BY7 (UniProtKB/Swiss-Prot),   B4E1U6 (UniProtKB/Swiss-Prot),   B4DNY4 (UniProtKB/Swiss-Prot),   A2IDD5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006720901   ⟸   XM_006720838
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_006720906   ⟸   XM_006720843
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: XP_011520665   ⟸   XM_011522363
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011520663   ⟸   XM_011522361
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011520671   ⟸   XM_011522369
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_011520670   ⟸   XM_011522368
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_011520669   ⟸   XM_011522367
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_011520667   ⟸   XM_011522365
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011520662   ⟸   XM_011522360
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011520661   ⟸   XM_011522359
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011520659   ⟸   XM_011522357
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011520660   ⟸   XM_011522358
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011520658   ⟸   XM_011522356
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011520672   ⟸   XM_011522370
- Peptide Label: isoform X20
- Sequence:
RefSeq Acc Id: XP_011520668   ⟸   XM_011522366
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011520666   ⟸   XM_011522364
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011520664   ⟸   XM_011522362
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016878418   ⟸   XM_017022929
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: NP_001364962   ⟸   NM_001378033
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001364960   ⟸   NM_001378031
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001364959   ⟸   NM_001378030
- Peptide Label: isoform 3
- UniProtKB: H3BLT8 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000458590   ⟸   ENST00000423653
Ensembl Acc Id: ENSP00000316851   ⟸   ENST00000345165
Ensembl Acc Id: ENSP00000293889   ⟸   ENST00000293889
Ensembl Acc Id: ENSP00000498860   ⟸   ENST00000650995
RefSeq Acc Id: XP_047289562   ⟸   XM_047433606
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047289561   ⟸   XM_047433605
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047289560   ⟸   XM_047433604
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047289559   ⟸   XM_047433603
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047289558   ⟸   XM_047433602
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047289563   ⟸   XM_047433607
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054235559   ⟸   XM_054379584
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054235558   ⟸   XM_054379583
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054235557   ⟸   XM_054379582
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054235556   ⟸   XM_054379581
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054235555   ⟸   XM_054379580
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054235554   ⟸   XM_054379579
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054235549   ⟸   XM_054379574
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054235553   ⟸   XM_054379578
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054235552   ⟸   XM_054379577
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054235551   ⟸   XM_054379576
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054235550   ⟸   XM_054379575
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054235548   ⟸   XM_054379573
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054235542   ⟸   XM_054379567
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054235541   ⟸   XM_054379566
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054235539   ⟸   XM_054379564
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054235547   ⟸   XM_054379572
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054235546   ⟸   XM_054379571
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054235545   ⟸   XM_054379570
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054235544   ⟸   XM_054379569
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054235543   ⟸   XM_054379568
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054235540   ⟸   XM_054379565
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054235538   ⟸   XM_054379563
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235560   ⟸   XM_054379585
- Peptide Label: isoform X23
Protein Domains
DUF4472

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A2IDD5-F1-model_v2 AlphaFold A2IDD5 1-438 view protein structure

Promoters
RGD ID:6792891
Promoter ID:HG_KWN:22647
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000329219
Position:
Human AssemblyChrPosition (strand)Source
Build 3616714,211 - 715,632 (-)MPROMDB
RGD ID:6792894
Promoter ID:HG_KWN:22648
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002CJF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3616715,266 - 715,862 (-)MPROMDB
RGD ID:6793038
Promoter ID:HG_KWN:22649
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000345165,   ENST00000389700,   ENST00000389701,   ENST00000389702,   NM_032304,   NM_207112,   OTTHUMT00000241665,   OTTHUMT00000241666,   OTTHUMT00000329212,   OTTHUMT00000329214,   OTTHUMT00000329215,   OTTHUMT00000329216,   OTTHUMT00000329220,   OTTHUMT00000329221,   OTTHUMT00000329222,   UC002CJH.1,   UC002CJJ.2,   UC002CJK.1,   UC002CJM.1,   UC002CJN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3616716,491 - 717,897 (-)MPROMDB
RGD ID:7230843
Promoter ID:EPDNEW_H21167
Type:multiple initiation site
Name:CCDC78_1
Description:coiled-coil domain containing 78
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21170  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816726,443 - 726,503EPDNEW
RGD ID:7230849
Promoter ID:EPDNEW_H21170
Type:multiple initiation site
Name:CCDC78_2
Description:coiled-coil domain containing 78
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21167  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,583 - 727,643EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14153 AgrOrtholog
COSMIC CCDC78 COSMIC
Ensembl Genes ENSG00000162004 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000293889 ENTREZGENE
  ENST00000293889.10 UniProtKB/Swiss-Prot
  ENST00000345165 ENTREZGENE
  ENST00000345165.10 UniProtKB/TrEMBL
  ENST00000460023 ENTREZGENE
  ENST00000463539 ENTREZGENE
  ENST00000466708 ENTREZGENE
  ENST00000485091 ENTREZGENE
  ENST00000650995.1 UniProtKB/TrEMBL
GTEx ENSG00000162004 GTEx
HGNC ID HGNC:14153 ENTREZGENE
Human Proteome Map CCDC78 Human Proteome Map
InterPro CCDC78 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF4472 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:124093 UniProtKB/Swiss-Prot
NCBI Gene CCDC78 ENTREZGENE
OMIM 614666 OMIM
PANTHER COILED-COIL DOMAIN-CONTAINING PROTEIN 78 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22106 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF4472 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25539 PharmGKB
UniProt A0A494C131_HUMAN UniProtKB/TrEMBL
  A2IDD5 ENTREZGENE
  B4DNY4 ENTREZGENE
  B4E1U6 ENTREZGENE
  CCD78_HUMAN UniProtKB/Swiss-Prot
  H3BLT8 ENTREZGENE, UniProtKB/TrEMBL
  Q05BY7 ENTREZGENE
  Q05CA0 ENTREZGENE
  Q6T2V5 ENTREZGENE
  Q6ZR33 ENTREZGENE
  Q8IUR3 ENTREZGENE
  Q8NAY7 ENTREZGENE
  Q96S12 ENTREZGENE
UniProt Secondary B4DNY4 UniProtKB/Swiss-Prot
  B4E1U6 UniProtKB/Swiss-Prot
  Q05BY7 UniProtKB/Swiss-Prot
  Q05CA0 UniProtKB/Swiss-Prot
  Q6T2V5 UniProtKB/Swiss-Prot
  Q6ZR33 UniProtKB/Swiss-Prot
  Q8IUR3 UniProtKB/Swiss-Prot
  Q8NAY7 UniProtKB/Swiss-Prot
  Q96S12 UniProtKB/Swiss-Prot