MYH8 (myosin heavy chain 8) - Rat Genome Database

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Gene: MYH8 (myosin heavy chain 8) Homo sapiens
Analyze
Symbol: MYH8
Name: myosin heavy chain 8
RGD ID: 1345305
HGNC Page HGNC:7578
Description: Enables ATP binding activity; ATP hydrolysis activity; and microfilament motor activity. Involved in ATP metabolic process; muscle filament sliding; and skeletal muscle contraction. Located in cytoplasm. Implicated in arthrogryposis multiplex congenita; disease of cellular proliferation; and distal arthrogryposis type 7. Biomarker of muscular dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DA7; fetal-myosin heavy chain; gtMHC-F; MyHC-peri; myHC-perinatal; MyHC-pn; myosin heavy chain, skeletal muscle, perinatal; myosin, heavy chain 8, skeletal muscle, perinatal; myosin, heavy polypeptide 8, skeletal muscle, perinatal; myosin-8
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381710,390,322 - 10,421,950 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1710,390,322 - 10,421,950 (-)EnsemblGRCh38hg38GRCh38
GRCh371710,293,639 - 10,325,267 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361710,234,367 - 10,265,992 (-)NCBINCBI36Build 36hg18NCBI36
Build 341710,234,366 - 10,265,747NCBI
Celera1710,324,499 - 10,356,128 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef1710,193,245 - 10,224,879 (-)NCBIHuRef
CHM1_11710,303,513 - 10,335,135 (-)NCBICHM1_1
T2T-CHM13v2.01710,297,824 - 10,333,264 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (TAS)
muscle myosin complex  (NAS)
myofibril  (IEA)
myosin complex  (IEA)
myosin filament  (IBA,IC,IEA)
myosin II complex  (IBA,IEA)
sarcomere  (IC)

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Fetal myosin immunoreactivity in human dystrophic muscle. Schiaffino S, etal., Muscle Nerve. 1986 Jan;9(1):51-8.
8. Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Toydemir RM, etal., Am J Med Genet A. 2006 Nov 15;140(22):2387-93.
9. Mutation of perinatal myosin heavy chain associated with a Carney complex variant. Veugelers M, etal., N Engl J Med. 2004 Jul 29;351(5):460-9.
Additional References at PubMed
PMID:1691980   PMID:2045411   PMID:2373371   PMID:2715179   PMID:7601129   PMID:8518795   PMID:16344560   PMID:18029348   PMID:18049072   PMID:19913121   PMID:20357587   PMID:20628086  
PMID:20949528   PMID:21370490   PMID:21873635   PMID:23414517   PMID:25963833   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26618866   PMID:28377322   PMID:28508505   PMID:28514442  
PMID:28700943   PMID:29872149   PMID:31430364   PMID:32232851   PMID:32308057   PMID:32694731   PMID:32707033   PMID:33961781   PMID:34644545   PMID:36736316  


Genomics

Comparative Map Data
MYH8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381710,390,322 - 10,421,950 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1710,390,322 - 10,421,950 (-)EnsemblGRCh38hg38GRCh38
GRCh371710,293,639 - 10,325,267 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361710,234,367 - 10,265,992 (-)NCBINCBI36Build 36hg18NCBI36
Build 341710,234,366 - 10,265,747NCBI
Celera1710,324,499 - 10,356,128 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef1710,193,245 - 10,224,879 (-)NCBIHuRef
CHM1_11710,303,513 - 10,335,135 (-)NCBICHM1_1
T2T-CHM13v2.01710,297,824 - 10,333,264 (-)NCBIT2T-CHM13v2.0
Myh8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391167,167,950 - 67,199,460 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1167,167,950 - 67,199,460 (+)EnsemblGRCm39 Ensembl
GRCm381167,277,124 - 67,308,634 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1167,277,124 - 67,308,634 (+)EnsemblGRCm38mm10GRCm38
MGSCv371167,090,626 - 67,122,136 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361167,093,319 - 67,124,829 (+)NCBIMGSCv36mm8
Celera1174,220,429 - 74,252,223 (+)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1140.59NCBI
Myh8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81052,462,509 - 52,492,105 (+)NCBIGRCr8
mRatBN7.21051,963,510 - 51,993,103 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1051,963,510 - 51,993,232 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1056,620,475 - 56,650,094 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01056,109,476 - 56,139,095 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01051,620,362 - 51,649,922 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01053,818,818 - 53,848,490 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1053,818,818 - 53,918,524 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01053,571,109 - 53,599,954 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41053,973,711 - 54,002,442 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11054,011,820 - 54,016,055 (+)NCBI
Celera1051,145,828 - 51,175,422 (+)NCBICelera
Cytogenetic Map10q24NCBI
LOC103782669
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21963,326,880 - 63,358,463 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11768,137,444 - 68,169,038 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01741,231,081 - 41,262,671 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11745,978,472 - 46,010,038 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1745,978,472 - 46,010,038 (+)Ensemblpanpan1.1panPan2
MYH8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1534,696,377 - 34,725,515 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl534,696,371 - 34,723,574 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha534,833,041 - 34,860,124 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0534,801,337 - 34,830,225 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl534,722,874 - 34,828,536 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1534,766,933 - 34,794,018 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0534,724,379 - 34,751,462 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0534,905,311 - 34,932,395 (-)NCBIUU_Cfam_GSD_1.0
Myh8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560249,804,616 - 49,834,514 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365953,278,886 - 3,308,716 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365953,278,829 - 3,307,134 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYH8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1255,134,844 - 55,167,748 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11255,135,651 - 55,166,983 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LOC103242386
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1169,733,585 - 9,765,740 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl169,733,717 - 9,763,255 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605911,577,960 - 11,609,636 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Myh8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478612,756,852 - 12,785,997 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478612,756,731 - 12,786,312 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MYH8
318 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002472.3(MYH8):c.2234C>T (p.Ser745Phe) single nucleotide variant not provided [RCV000522484] Chr17:10406335 [GRCh38]
Chr17:10309652 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.211-218C>T single nucleotide variant not provided [RCV001564102] Chr17:10419248 [GRCh38]
Chr17:10322565 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln) single nucleotide variant Carney complex - trismus - pseudocamptodactyly syndrome [RCV000015197]|Hecht syndrome [RCV000015198]|not provided [RCV000438123] Chr17:10406924 [GRCh38]
Chr17:10310241 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_002472.2(MYH8):c.1966-539A>G single nucleotide variant Lung cancer [RCV000100337] Chr17:10407518 [GRCh38]
Chr17:10310835 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.1(chr17:10084941-10502052)x3 copy number gain See cases [RCV000054005] Chr17:10084941..10502052 [GRCh38]
Chr17:9988258..10405369 [GRCh37]
Chr17:9928983..10346094 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.1(chr17:10112910-10477423)x3 copy number gain See cases [RCV000054006] Chr17:10112910..10477423 [GRCh38]
Chr17:10016227..10380740 [GRCh37]
Chr17:9956952..10321465 [NCBI36]
Chr17:17p13.1		 uncertain significance
NM_002472.2(MYH8):c.5676C>T (p.Ser1892=) single nucleotide variant Malignant melanoma [RCV000071287] Chr17:10390592 [GRCh38]
Chr17:10293909 [GRCh37]
Chr17:10234634 [NCBI36]
Chr17:17p13.1		 not provided
NM_002472.2(MYH8):c.5675C>T (p.Ser1892Phe) single nucleotide variant Malignant melanoma [RCV000071288] Chr17:10390593 [GRCh38]
Chr17:10293910 [GRCh37]
Chr17:10234635 [NCBI36]
Chr17:17p13.1		 not provided
NM_002472.2(MYH8):c.5382G>A (p.Lys1794=) single nucleotide variant Malignant melanoma [RCV000071289] Chr17:10392912 [GRCh38]
Chr17:10296229 [GRCh37]
Chr17:10236954 [NCBI36]
Chr17:17p13.1		 not provided
NM_002472.2(MYH8):c.5304G>A (p.Met1768Ile) single nucleotide variant Malignant melanoma [RCV000071290] Chr17:10392990 [GRCh38]
Chr17:10296307 [GRCh37]
Chr17:10237032 [NCBI36]
Chr17:17p13.1		 not provided
NM_002472.2(MYH8):c.3048G>A (p.Glu1016=) single nucleotide variant Malignant melanoma [RCV000071291] Chr17:10401335 [GRCh38]
Chr17:10304652 [GRCh37]
Chr17:10245377 [NCBI36]
Chr17:17p13.1		 not provided
NM_002472.2(MYH8):c.-30-1G>A single nucleotide variant Malignant melanoma [RCV000071292] Chr17:10420258 [GRCh38]
Chr17:10323575 [GRCh37]
Chr17:10264300 [NCBI36]
Chr17:17p13.1		 not provided
NM_002472.2(MYH8):c.5106G>A (p.Arg1702=) single nucleotide variant Malignant melanoma [RCV000063114] Chr17:10394309 [GRCh38]
Chr17:10297626 [GRCh37]
Chr17:10238351 [NCBI36]
Chr17:17p13.1		 not provided
NM_002472.2(MYH8):c.4832G>A (p.Arg1611Lys) single nucleotide variant Malignant melanoma [RCV000063115] Chr17:10395263 [GRCh38]
Chr17:10298580 [GRCh37]
Chr17:10239305 [NCBI36]
Chr17:17p13.1		 not provided
NM_002472.2(MYH8):c.2598C>T (p.Leu866=) single nucleotide variant Malignant melanoma [RCV000063116] Chr17:10404420 [GRCh38]
Chr17:10307737 [GRCh37]
Chr17:10248462 [NCBI36]
Chr17:17p13.1		 not provided
NM_002472.2(MYH8):c.2132G>A (p.Gly711Glu) single nucleotide variant Malignant melanoma [RCV000063117] Chr17:10406729 [GRCh38]
Chr17:10310046 [GRCh37]
Chr17:10250771 [NCBI36]
Chr17:17p13.1		 not provided
NM_002472.2(MYH8):c.1686G>T (p.Lys562Asn) single nucleotide variant Malignant melanoma [RCV000063118] Chr17:10409490 [GRCh38]
Chr17:10312807 [GRCh37]
Chr17:10253532 [NCBI36]
Chr17:17p13.1		 not provided
NM_002472.2(MYH8):c.625A>G (p.Lys209Glu) single nucleotide variant Malignant melanoma [RCV000063119] Chr17:10415495 [GRCh38]
Chr17:10318812 [GRCh37]
Chr17:10259537 [NCBI36]
Chr17:17p13.1		 not provided
NM_002472.3(MYH8):c.398G>T (p.Trp133Leu) single nucleotide variant not provided [RCV000087202] Chr17:10418758 [GRCh38]
Chr17:10322075 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter) single nucleotide variant not provided [RCV000449650]|not specified [RCV000117683] Chr17:10412667 [GRCh38]
Chr17:10315984 [GRCh37]
Chr17:17p13.1		 pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002472.3(MYH8):c.1701G>A (p.Gln567=) single nucleotide variant Hecht syndrome [RCV000357614]|not provided [RCV000961460]|not specified [RCV000117684] Chr17:10409475 [GRCh38]
Chr17:10312792 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.1907C>T (p.Ala636Val) single nucleotide variant Hecht syndrome [RCV000354138]|not provided [RCV001689650]|not specified [RCV000117685] Chr17:10409155 [GRCh38]
Chr17:10312472 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.2016C>T (p.Phe672=) single nucleotide variant Hecht syndrome [RCV000404842]|not provided [RCV001682817]|not specified [RCV000117686] Chr17:10406929 [GRCh38]
Chr17:10310246 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.3117G>A (p.Gly1039=) single nucleotide variant Hecht syndrome [RCV000289687]|not provided [RCV001689651]|not specified [RCV000117687] Chr17:10401183 [GRCh38]
Chr17:10304500 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.3270C>T (p.Ile1090=) single nucleotide variant Hecht syndrome [RCV000285844]|not provided [RCV001689652]|not specified [RCV000117688] Chr17:10400944 [GRCh38]
Chr17:10304261 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr) single nucleotide variant Carney complex - trismus - pseudocamptodactyly syndrome [RCV002498519]|Hecht syndrome [RCV001115464]|MYH8-related condition [RCV003891625]|not provided [RCV000970024]|not specified [RCV000117689] Chr17:10400439 [GRCh38]
Chr17:10303756 [GRCh37]
Chr17:17p13.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002472.3(MYH8):c.3757C>T (p.Arg1253Cys) single nucleotide variant Hecht syndrome [RCV001120365]|not provided [RCV000973549]|not specified [RCV000117690] Chr17:10399648 [GRCh38]
Chr17:10302965 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.4233C>T (p.Asn1411=) single nucleotide variant Hecht syndrome [RCV000370524]|not provided [RCV000962468]|not specified [RCV000117691] Chr17:10396932 [GRCh38]
Chr17:10300249 [GRCh37]
Chr17:17p13.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002472.3(MYH8):c.5074T>C (p.Trp1692Arg) single nucleotide variant Hecht syndrome [RCV000341726]|not provided [RCV001647133]|not specified [RCV000117692] Chr17:10394341 [GRCh38]
Chr17:10297658 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.5208C>T (p.Asp1736=) single nucleotide variant Hecht syndrome [RCV000393720]|not provided [RCV001598623]|not specified [RCV000117693] Chr17:10393169 [GRCh38]
Chr17:10296486 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.714T>C (p.Thr238=) single nucleotide variant Hecht syndrome [RCV000283465]|not provided [RCV001689653]|not specified [RCV000117694] Chr17:10415319 [GRCh38]
Chr17:10318636 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.805+9C>T single nucleotide variant Hecht syndrome [RCV001120265]|not provided [RCV000947767]|not specified [RCV000117695] Chr17:10415107 [GRCh38]
Chr17:10318424 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.2339G>T (p.Arg780Ile) single nucleotide variant Malignant tumor of prostate [RCV000149133] Chr17:10406134 [GRCh38]
Chr17:10309451 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12		 pathogenic
GRCh38/hg38 17p13.1(chr17:10145851-10464716)x3 copy number gain See cases [RCV000136980] Chr17:10145851..10464716 [GRCh38]
Chr17:10049168..10368033 [GRCh37]
Chr17:9989893..10308758 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.1-12(chr17:10334509-10900316)x1 copy number loss See cases [RCV000139368] Chr17:10334509..10900316 [GRCh38]
Chr17:10237826..10803633 [GRCh37]
Chr17:10178551..10744358 [NCBI36]
Chr17:17p13.1-12		 pathogenic
GRCh38/hg38 17p13.1(chr17:10112898-10444811)x3 copy number gain See cases [RCV000139407] Chr17:10112898..10444811 [GRCh38]
Chr17:10016215..10348128 [GRCh37]
Chr17:9956940..10288853 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
NM_002472.3(MYH8):c.2432+6A>C single nucleotide variant not provided [RCV000963153]|not specified [RCV000192653] Chr17:10406035 [GRCh38]
Chr17:10309352 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.3019del (p.Gln1007fs) deletion not specified [RCV000193490] Chr17:10401364 [GRCh38]
Chr17:10304681 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5113G>A (p.Ala1705Thr) single nucleotide variant not specified [RCV000192831] Chr17:10394302 [GRCh38]
Chr17:10297619 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3532C>T (p.Arg1178Cys) single nucleotide variant Hecht syndrome [RCV001115467]|MYH8-related condition [RCV003955163]|not specified [RCV000192957] Chr17:10400593 [GRCh38]
Chr17:10303910 [GRCh37]
Chr17:17p13.1		 benign|uncertain significance
NM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys) single nucleotide variant Hecht syndrome [RCV001120363]|Inborn genetic diseases [RCV002517955]|MYH8-related condition [RCV003937699]|not provided [RCV000970023]|not specified [RCV000193751] Chr17:10398580 [GRCh38]
Chr17:10301897 [GRCh37]
Chr17:17p13.1		 benign|likely benign|uncertain significance
NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly) single nucleotide variant Hecht syndrome [RCV000989748]|Inborn genetic diseases [RCV000210686]|not provided [RCV000953038]|not specified [RCV000194050] Chr17:10392944 [GRCh38]
Chr17:10296261 [GRCh37]
Chr17:17p13.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002472.3(MYH8):c.540C>T (p.Thr180=) single nucleotide variant not provided [RCV000963154]|not specified [RCV000194575] Chr17:10415580 [GRCh38]
Chr17:10318897 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.4740A>C (p.Ala1580=) single nucleotide variant not provided [RCV000963152]|not specified [RCV000194614] Chr17:10395355 [GRCh38]
Chr17:10298672 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.3254+1G>T single nucleotide variant not provided [RCV000449652]|not specified [RCV000194735] Chr17:10401045 [GRCh38]
Chr17:10304362 [GRCh37]
Chr17:17p13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1 copy number loss Breast ductal adenocarcinoma [RCV000207166] Chr17:9701182..11983353 [GRCh38]
Chr17:9604499..11886670 [GRCh37]
Chr17:17p13.1-12		 uncertain significance
NM_002472.3(MYH8):c.1264C>T (p.Gln422Ter) single nucleotide variant Inborn genetic diseases [RCV000210629] Chr17:10412612 [GRCh38]
Chr17:10315929 [GRCh37]
Chr17:17p13.1		 uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207129] Chr17:9586165..16325968 [GRCh37]
Chr17:17p13.1-11.2		 uncertain significance
NM_002472.3(MYH8):c.2147T>A (p.Ile716Asn) single nucleotide variant not provided [RCV000897380]|not specified [RCV000239061] Chr17:10406714 [GRCh38]
Chr17:10310031 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.4379A>G (p.Lys1460Arg) single nucleotide variant not provided [RCV000881615]|not specified [RCV000253582] Chr17:10396702 [GRCh38]
Chr17:10300019 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.3108+20C>A single nucleotide variant not specified [RCV000244363] Chr17:10401255 [GRCh38]
Chr17:10304572 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.2652A>G (p.Leu884=) single nucleotide variant not provided [RCV000881617]|not specified [RCV000254203] Chr17:10404366 [GRCh38]
Chr17:10307683 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.2274A>G (p.Gln758=) single nucleotide variant Hecht syndrome [RCV000312031]|not provided [RCV000950815]|not specified [RCV000249435] Chr17:10406295 [GRCh38]
Chr17:10309612 [GRCh37]
Chr17:17p13.1		 benign|likely benign|uncertain significance
NM_002472.3(MYH8):c.225G>C (p.Arg75Ser) single nucleotide variant Hecht syndrome [RCV001120569]|MYH8-related condition [RCV003891909]|not provided [RCV000910866] Chr17:10419016 [GRCh38]
Chr17:10322333 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.5464G>A (p.Val1822Ile) single nucleotide variant Hecht syndrome [RCV000280910]|MYH8-related condition [RCV003891910]|not provided [RCV000897671] Chr17:10392646 [GRCh38]
Chr17:10295963 [GRCh37]
Chr17:17p13.1		 benign|likely benign|uncertain significance
NM_002472.3(MYH8):c.5463+20T>C single nucleotide variant not specified [RCV000244951] Chr17:10392811 [GRCh38]
Chr17:10296128 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.5484G>A (p.Glu1828=) single nucleotide variant not provided [RCV000897379]|not specified [RCV000243122] Chr17:10392626 [GRCh38]
Chr17:10295943 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.1731G>C (p.Glu577Asp) single nucleotide variant Hecht syndrome [RCV000300494]|not provided [RCV000964359] Chr17:10409445 [GRCh38]
Chr17:10312762 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.1416+11T>G single nucleotide variant Hecht syndrome [RCV000265285] Chr17:10412359 [GRCh38]
Chr17:10315676 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5166+14A>G single nucleotide variant Hecht syndrome [RCV000284429] Chr17:10394235 [GRCh38]
Chr17:10297552 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4433G>A (p.Arg1478His) single nucleotide variant Hecht syndrome [RCV000274687] Chr17:10396648 [GRCh38]
Chr17:10299965 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4003G>A (p.Ala1335Thr) single nucleotide variant Hecht syndrome [RCV000260074] Chr17:10398619 [GRCh38]
Chr17:10301936 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.*72T>C single nucleotide variant Hecht syndrome [RCV000295156]|not provided [RCV001553193] Chr17:10390382 [GRCh38]
Chr17:10293699 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_002472.3(MYH8):c.1833G>A (p.Leu611=) single nucleotide variant Hecht syndrome [RCV000261558]|not provided [RCV003409506] Chr17:10409343 [GRCh38]
Chr17:10312660 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_002472.3(MYH8):c.578G>A (p.Arg193His) single nucleotide variant Hecht syndrome [RCV000279822]|not provided [RCV000966459]|not specified [RCV000502525] Chr17:10415542 [GRCh38]
Chr17:10318859 [GRCh37]
Chr17:17p13.1		 benign|likely benign|uncertain significance
NM_002472.3(MYH8):c.3376G>C (p.Glu1126Gln) single nucleotide variant Hecht syndrome [RCV000320909] Chr17:10400749 [GRCh38]
Chr17:10304066 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3255-8G>A single nucleotide variant Hecht syndrome [RCV000343055] Chr17:10400967 [GRCh38]
Chr17:10304284 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4688G>A (p.Arg1563His) single nucleotide variant Hecht syndrome [RCV000366956] Chr17:10395407 [GRCh38]
Chr17:10298724 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1268T>G (p.Val423Gly) single nucleotide variant Hecht syndrome [RCV000322772]|not provided [RCV002227152] Chr17:10412518 [GRCh38]
Chr17:10315835 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.846G>A (p.Ala282=) single nucleotide variant Hecht syndrome [RCV000323405] Chr17:10414444 [GRCh38]
Chr17:10317761 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2987C>G (p.Ser996Cys) single nucleotide variant Hecht syndrome [RCV000346993] Chr17:10401396 [GRCh38]
Chr17:10304713 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2117G>A (p.Arg706His) single nucleotide variant Hecht syndrome [RCV000369012]|MYH8-related condition [RCV003969911] Chr17:10406744 [GRCh38]
Chr17:10310061 [GRCh37]
Chr17:17p13.1		 benign|likely benign|uncertain significance
NM_002472.3(MYH8):c.-31G>A single nucleotide variant Hecht syndrome [RCV000349915] Chr17:10421663 [GRCh38]
Chr17:10324980 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.3388G>T (p.Ala1130Ser) single nucleotide variant Hecht syndrome [RCV000282382] Chr17:10400737 [GRCh38]
Chr17:10304054 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3550G>A (p.Ala1184Thr) single nucleotide variant Hecht syndrome [RCV000374507] Chr17:10400575 [GRCh38]
Chr17:10303892 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5539G>A (p.Glu1847Lys) single nucleotide variant Hecht syndrome [RCV000373016]|Inborn genetic diseases [RCV003258761]|not provided [RCV000931653] Chr17:10392571 [GRCh38]
Chr17:10295888 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_002472.3(MYH8):c.2791G>A (p.Glu931Lys) single nucleotide variant Hecht syndrome [RCV000402897]|Inborn genetic diseases [RCV002522905]|not provided [RCV001356565] Chr17:10401683 [GRCh38]
Chr17:10305000 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3340T>C (p.Leu1114=) single nucleotide variant Hecht syndrome [RCV000377907]|not provided [RCV000907735] Chr17:10400874 [GRCh38]
Chr17:10304191 [GRCh37]
Chr17:17p13.1		 benign|uncertain significance
NM_002472.3(MYH8):c.840A>G (p.Leu280=) single nucleotide variant Hecht syndrome [RCV000378041] Chr17:10414450 [GRCh38]
Chr17:10317767 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4994G>A (p.Arg1665Gln) single nucleotide variant Hecht syndrome [RCV000404045] Chr17:10394421 [GRCh38]
Chr17:10297738 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.605C>T (p.Ala202Val) single nucleotide variant Hecht syndrome [RCV000374383] Chr17:10415515 [GRCh38]
Chr17:10318832 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1067C>T (p.Thr356Ile) single nucleotide variant Hecht syndrome [RCV000379745]|Inborn genetic diseases [RCV002521078] Chr17:10413982 [GRCh38]
Chr17:10317299 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4738G>A (p.Ala1580Thr) single nucleotide variant Hecht syndrome [RCV000404339] Chr17:10395357 [GRCh38]
Chr17:10298674 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.-65C>T single nucleotide variant Hecht syndrome [RCV000405751] Chr17:10421697 [GRCh38]
Chr17:10325014 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.203G>T (p.Gly68Val) single nucleotide variant Hecht syndrome [RCV000391045] Chr17:10420025 [GRCh38]
Chr17:10323342 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5435A>G (p.Lys1812Arg) single nucleotide variant Hecht syndrome [RCV000338321] Chr17:10392859 [GRCh38]
Chr17:10296176 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_002472.3(MYH8):c.-7C>T single nucleotide variant Hecht syndrome [RCV000313692] Chr17:10420234 [GRCh38]
Chr17:10323551 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.501C>T (p.Phe167=) single nucleotide variant Hecht syndrome [RCV000334972] Chr17:10418655 [GRCh38]
Chr17:10321972 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3254+8C>A single nucleotide variant Hecht syndrome [RCV000408074] Chr17:10401038 [GRCh38]
Chr17:10304355 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5736G>C (p.Arg1912=) single nucleotide variant Hecht syndrome [RCV000316079] Chr17:10390532 [GRCh38]
Chr17:10293849 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.675C>T (p.Ser225=) single nucleotide variant Hecht syndrome [RCV000338534]|not provided [RCV000884204] Chr17:10415358 [GRCh38]
Chr17:10318675 [GRCh37]
Chr17:17p13.1		 benign|likely benign|uncertain significance
NM_002472.3(MYH8):c.*76G>C single nucleotide variant Hecht syndrome [RCV000387032]|not provided [RCV001590956] Chr17:10390378 [GRCh38]
Chr17:10293695 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.3703A>G (p.Ser1235Gly) single nucleotide variant Hecht syndrome [RCV000317571] Chr17:10400422 [GRCh38]
Chr17:10303739 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4784G>A (p.Arg1595Lys) single nucleotide variant Hecht syndrome [RCV000363358] Chr17:10395311 [GRCh38]
Chr17:10298628 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1009-4G>A single nucleotide variant Hecht syndrome [RCV000268348] Chr17:10414044 [GRCh38]
Chr17:10317361 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3874C>T (p.Arg1292Ter) single nucleotide variant Carney complex - trismus - pseudocamptodactyly syndrome [RCV000490328] Chr17:10398875 [GRCh38]
Chr17:10302192 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1989G>A (p.Thr663=) single nucleotide variant Hecht syndrome [RCV000315475] Chr17:10406956 [GRCh38]
Chr17:10310273 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4249C>G (p.Leu1417Val) single nucleotide variant Hecht syndrome [RCV000332157] Chr17:10396916 [GRCh38]
Chr17:10300233 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4910G>A (p.Arg1637His) single nucleotide variant Hecht syndrome [RCV000306309] Chr17:10395185 [GRCh38]
Chr17:10298502 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4692C>A (p.Ile1564=) single nucleotide variant Hecht syndrome [RCV000309839] Chr17:10395403 [GRCh38]
Chr17:10298720 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.11G>A (p.Ser4Asn) single nucleotide variant not provided [RCV000522858] Chr17:10420217 [GRCh38]
Chr17:10323534 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4147A>G (p.Ile1383Val) single nucleotide variant Hecht syndrome [RCV001120362]|Inborn genetic diseases [RCV002556580]|MYH8-related condition [RCV003953498] Chr17:10398475 [GRCh38]
Chr17:10301792 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_002472.3(MYH8):c.1803G>T (p.Lys601Asn) single nucleotide variant Hecht syndrome [RCV001120473] Chr17:10409373 [GRCh38]
Chr17:10312690 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4878T>C (p.Asn1626=) single nucleotide variant Hecht syndrome [RCV001120052]|MYH8-related condition [RCV003906225] Chr17:10395217 [GRCh38]
Chr17:10298534 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_002472.3(MYH8):c.3151C>G (p.Leu1051Val) single nucleotide variant Hecht syndrome [RCV001120169] Chr17:10401149 [GRCh38]
Chr17:10304466 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.399G>T (p.Trp133Cys) single nucleotide variant Hecht syndrome [RCV001120565] Chr17:10418757 [GRCh38]
Chr17:10322074 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.254C>T (p.Pro85Leu) single nucleotide variant Hecht syndrome [RCV001120568]|Inborn genetic diseases [RCV002556588] Chr17:10418987 [GRCh38]
Chr17:10322304 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.676G>A (p.Ala226Thr) single nucleotide variant Hecht syndrome [RCV001120266]|not provided [RCV001560486] Chr17:10415357 [GRCh38]
Chr17:10318674 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_002472.3(MYH8):c.5743A>G (p.Ile1915Val) single nucleotide variant Short stature [RCV000735361] Chr17:10390525 [GRCh38]
Chr17:10293842 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5789T>G (p.Val1930Gly) single nucleotide variant not provided [RCV000733689] Chr17:10390479 [GRCh38]
Chr17:10293796 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2557G>A (p.Ala853Thr) single nucleotide variant not provided [RCV000733690] Chr17:10404461 [GRCh38]
Chr17:10307778 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1966-1G>T single nucleotide variant not provided [RCV000449638] Chr17:10406980 [GRCh38]
Chr17:10310297 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5623C>T (p.Gln1875Ter) single nucleotide variant not provided [RCV000593052] Chr17:10391923 [GRCh38]
Chr17:10295240 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1408del (p.Ile470fs) deletion not provided [RCV000593687] Chr17:10412378 [GRCh38]
Chr17:10315695 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5293-1G>A single nucleotide variant not provided [RCV000594526] Chr17:10393002 [GRCh38]
Chr17:10296319 [GRCh37]
Chr17:17p13.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_002472.3(MYH8):c.3320del (p.Leu1107fs) deletion Carney complex - trismus - pseudocamptodactyly syndrome [RCV001199269]|Hecht syndrome [RCV000449642]|not provided [RCV000594344] Chr17:10400894 [GRCh38]
Chr17:10304211 [GRCh37]
Chr17:17p13.1		 benign|uncertain significance
NM_002472.3(MYH8):c.4470del (p.Tyr1491fs) deletion not provided [RCV000596881] Chr17:10396611 [GRCh38]
Chr17:10299928 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1475del (p.Phe492fs) deletion not provided [RCV000596017] Chr17:10410889 [GRCh38]
Chr17:10314206 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2746dup (p.Ile916fs) duplication not provided [RCV000595771] Chr17:10401727..10401728 [GRCh38]
Chr17:10305044..10305045 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2128A>T (p.Lys710Ter) single nucleotide variant not provided [RCV000596376] Chr17:10406733 [GRCh38]
Chr17:10310050 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1966-2A>G single nucleotide variant not provided [RCV000449649] Chr17:10406981 [GRCh38]
Chr17:10310298 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4846A>T (p.Arg1616Ter) single nucleotide variant not provided [RCV000591499] Chr17:10395249 [GRCh38]
Chr17:10298566 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:10016227-10418151)x3 copy number gain See cases [RCV000448989] Chr17:10016227..10418151 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.387C>T (p.Asn129=) single nucleotide variant not specified [RCV000503447] Chr17:10418769 [GRCh38]
Chr17:10322086 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.161T>C (p.Ile54Thr) single nucleotide variant Inborn genetic diseases [RCV002524229]|not specified [RCV000504283] Chr17:10420067 [GRCh38]
Chr17:10323384 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1770C>T (p.Asp590=) single nucleotide variant not specified [RCV000502329] Chr17:10409406 [GRCh38]
Chr17:10312723 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.4537del (p.Ser1513fs) deletion not specified [RCV000500131] Chr17:10396446 [GRCh38]
Chr17:10299763 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala) single nucleotide variant Hecht syndrome [RCV001115383]|MYH8-related condition [RCV003915429]|not provided [RCV000514232]|not specified [RCV001726206] Chr17:10392597 [GRCh38]
Chr17:10295914 [GRCh37]
Chr17:17p13.1		 benign|likely benign
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
NM_002472.3(MYH8):c.5531G>A (p.Arg1844Gln) single nucleotide variant Inborn genetic diseases [RCV003254254] Chr17:10392579 [GRCh38]
Chr17:10295896 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4298T>C (p.Leu1433Pro) single nucleotide variant Inborn genetic diseases [RCV003278048] Chr17:10396867 [GRCh38]
Chr17:10300184 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5629A>G (p.Lys1877Glu) single nucleotide variant Inborn genetic diseases [RCV003272990] Chr17:10391917 [GRCh38]
Chr17:10295234 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.736C>T (p.Arg246Cys) single nucleotide variant Inborn genetic diseases [RCV003266856] Chr17:10415297 [GRCh38]
Chr17:10318614 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_002472.3(MYH8):c.5350C>T (p.Arg1784Trp) single nucleotide variant not provided [RCV000658770] Chr17:10392944 [GRCh38]
Chr17:10296261 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.1(chr17:9982833-10417287)x3 copy number gain not provided [RCV000683888] Chr17:9982833..10417287 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1771T>C (p.Tyr591His) single nucleotide variant Arthrogryposis, distal, type 1A [RCV000714642]|Inborn genetic diseases [RCV003353005] Chr17:10409405 [GRCh38]
Chr17:10312722 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NC_000017.11:g.10078000_10512000dup duplication not provided [RCV001542429] Chr17:10078000..10512000 [GRCh38]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2171+45G>A single nucleotide variant not provided [RCV001608959] Chr17:10406645 [GRCh38]
Chr17:10309962 [GRCh37]
Chr17:17p13.1		 benign
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_002472.3(MYH8):c.4179-309A>G single nucleotide variant not provided [RCV001539561] Chr17:10397295 [GRCh38]
Chr17:10300612 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.3862+276CA[11] microsatellite not provided [RCV001610986] Chr17:10399249..10399250 [GRCh38]
Chr17:10302566..10302567 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.4499C>T (p.Thr1500Met) single nucleotide variant Hecht syndrome [RCV001120054]|not provided [RCV000893692] Chr17:10396582 [GRCh38]
Chr17:10299899 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.2174dup (p.Tyr725Ter) duplication not provided [RCV000893860] Chr17:10406394..10406395 [GRCh38]
Chr17:10309711..10309712 [GRCh37]
Chr17:17p13.1		 pathogenic|benign
NM_002472.3(MYH8):c.2691A>G (p.Glu897=) single nucleotide variant not provided [RCV000762203] Chr17:10401783 [GRCh38]
Chr17:10305100 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1034C>G (p.Thr345Ser) single nucleotide variant Hecht syndrome [RCV001116993]|Inborn genetic diseases [RCV002556480] Chr17:10414015 [GRCh38]
Chr17:10317332 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.959A>T (p.Glu320Val) single nucleotide variant Hecht syndrome [RCV001116995] Chr17:10414241 [GRCh38]
Chr17:10317558 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2433-166T>C single nucleotide variant not provided [RCV001647862] Chr17:10404751 [GRCh38]
Chr17:10308068 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.1417-220C>G single nucleotide variant not provided [RCV001647925] Chr17:10411167 [GRCh38]
Chr17:10314484 [GRCh37]
Chr17:17p13.1		 benign
GRCh37/hg19 17p13.1(chr17:10232311-10295497)x1 copy number loss not provided [RCV000751923] Chr17:10232311..10295497 [GRCh37]
Chr17:17p13.1		 benign
GRCh37/hg19 17p13.1(chr17:10234834-10299757)x1 copy number loss not provided [RCV000751924] Chr17:10234834..10299757 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.2055G>A (p.Gly685=) single nucleotide variant not provided [RCV000904968] Chr17:10406806 [GRCh38]
Chr17:10310123 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.4235C>T (p.Ala1412Val) single nucleotide variant not provided [RCV000906090] Chr17:10396930 [GRCh38]
Chr17:10300247 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.1815T>A (p.Asn605Lys) single nucleotide variant Hecht syndrome [RCV001120472]|not provided [RCV000927544] Chr17:10409361 [GRCh38]
Chr17:10312678 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.1380C>T (p.Ile460=) single nucleotide variant not provided [RCV000928134] Chr17:10412406 [GRCh38]
Chr17:10315723 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.3576G>A (p.Val1192=) single nucleotide variant not provided [RCV000881059] Chr17:10400549 [GRCh38]
Chr17:10303866 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.5421G>A (p.Ala1807=) single nucleotide variant not provided [RCV000879356] Chr17:10392873 [GRCh38]
Chr17:10296190 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.1470G>A (p.Gln490=) single nucleotide variant not provided [RCV000976100] Chr17:10410894 [GRCh38]
Chr17:10314211 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.143C>T (p.Ser48Phe) single nucleotide variant Hecht syndrome [RCV001115655]|MYH8-related condition [RCV003943143]|not provided [RCV000965371] Chr17:10420085 [GRCh38]
Chr17:10323402 [GRCh37]
Chr17:17p13.1		 benign|likely benign|uncertain significance
NM_002472.3(MYH8):c.4786G>A (p.Val1596Ile) single nucleotide variant Inborn genetic diseases [RCV002541551]|not provided [RCV000927309] Chr17:10395309 [GRCh38]
Chr17:10298626 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_002472.3(MYH8):c.4813G>A (p.Asp1605Asn) single nucleotide variant Hecht syndrome [RCV001120053]|not provided [RCV000948447] Chr17:10395282 [GRCh38]
Chr17:10298599 [GRCh37]
Chr17:17p13.1		 benign|likely benign|uncertain significance
NM_002472.3(MYH8):c.4089G>A (p.Ala1363=) single nucleotide variant not provided [RCV000996488] Chr17:10398533 [GRCh38]
Chr17:10301850 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2779G>C (p.Glu927Gln) single nucleotide variant not provided [RCV000996489] Chr17:10401695 [GRCh38]
Chr17:10305012 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3735+2T>A single nucleotide variant Hecht syndrome [RCV000779202] Chr17:10400388 [GRCh38]
Chr17:10303705 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1973T>A (p.Leu658Ter) single nucleotide variant Hecht syndrome [RCV000778484] Chr17:10406972 [GRCh38]
Chr17:10310289 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1486_1487del (p.Met496fs) deletion Hecht syndrome [RCV000778485] Chr17:10410877..10410878 [GRCh38]
Chr17:10314194..10314195 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1432C>T (p.Gln478Ter) single nucleotide variant Hecht syndrome [RCV000778486] Chr17:10410932 [GRCh38]
Chr17:10314249 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.741+8T>C single nucleotide variant not provided [RCV000918214] Chr17:10415284 [GRCh38]
Chr17:10318601 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.2432+8T>C single nucleotide variant not provided [RCV000977868] Chr17:10406033 [GRCh38]
Chr17:10309350 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.430G>C (p.Ala144Pro) single nucleotide variant MYH8-related condition [RCV003960766]|not provided [RCV000965370] Chr17:10418726 [GRCh38]
Chr17:10322043 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.5504G>A (p.Arg1835His) single nucleotide variant Inborn genetic diseases [RCV002539443]|not provided [RCV000896109] Chr17:10392606 [GRCh38]
Chr17:10295923 [GRCh37]
Chr17:17p13.1		 benign|uncertain significance
NM_002472.3(MYH8):c.1663C>T (p.Leu555=) single nucleotide variant not provided [RCV000942925] Chr17:10409513 [GRCh38]
Chr17:10312830 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.5508T>C (p.Asn1836=) single nucleotide variant MYH8-related condition [RCV003950434]|not provided [RCV000894116] Chr17:10392602 [GRCh38]
Chr17:10295919 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.3346-8A>G single nucleotide variant not provided [RCV000901131] Chr17:10400787 [GRCh38]
Chr17:10304104 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.3513G>A (p.Glu1171=) single nucleotide variant not provided [RCV000881616] Chr17:10400612 [GRCh38]
Chr17:10303929 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.1318C>T (p.Leu440=) single nucleotide variant Hecht syndrome [RCV001115566]|not provided [RCV000973106] Chr17:10412468 [GRCh38]
Chr17:10315785 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_002472.3(MYH8):c.1905C>T (p.Ser635=) single nucleotide variant not provided [RCV000964013] Chr17:10409157 [GRCh38]
Chr17:10312474 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.5028T>A (p.Ile1676=) single nucleotide variant not provided [RCV000915151] Chr17:10394387 [GRCh38]
Chr17:10297704 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.1734C>T (p.Ala578=) single nucleotide variant not provided [RCV000914107] Chr17:10409442 [GRCh38]
Chr17:10312759 [GRCh37]
Chr17:17p13.1		 likely benign
NC_000017.11:g.(?_10330387)_(10395441_?)del deletion not provided [RCV000817283] Chr17:10330387..10395441 [GRCh38]
Chr17:10233704..10298758 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.977T>C (p.Ile326Thr) single nucleotide variant Arthrogryposis, distal, type 1A [RCV000785100]|Carney complex - trismus - pseudocamptodactyly syndrome [RCV000785101]|Hecht syndrome [RCV001116994] Chr17:10414223 [GRCh38]
Chr17:10317540 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:9982717-10415840)x3 copy number gain not provided [RCV000848700] Chr17:9982717..10415840 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:9986726-10415840)x3 copy number gain not provided [RCV000849013] Chr17:9986726..10415840 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3469G>A (p.Gly1157Ser) single nucleotide variant Hecht syndrome [RCV001115468] Chr17:10400656 [GRCh38]
Chr17:10303973 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.76C>A (p.Arg26=) single nucleotide variant Hecht syndrome [RCV001115656] Chr17:10420152 [GRCh38]
Chr17:10323469 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.-31+9T>C single nucleotide variant Hecht syndrome [RCV001115658] Chr17:10421654 [GRCh38]
Chr17:10324971 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3423C>T (p.Asp1141=) single nucleotide variant Hecht syndrome [RCV001118626] Chr17:10400702 [GRCh38]
Chr17:10304019 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1147+14C>G single nucleotide variant Hecht syndrome [RCV001116991] Chr17:10413888 [GRCh38]
Chr17:10317205 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5194A>G (p.Lys1732Glu) single nucleotide variant Hecht syndrome [RCV001118527] Chr17:10393183 [GRCh38]
Chr17:10296500 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5025A>G (p.Ala1675=) single nucleotide variant Hecht syndrome [RCV001118530] Chr17:10394390 [GRCh38]
Chr17:10297707 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2317C>T (p.Leu773=) single nucleotide variant Hecht syndrome [RCV001120171] Chr17:10406156 [GRCh38]
Chr17:10309473 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.851G>T (p.Arg284Ile) single nucleotide variant Hecht syndrome [RCV001120264] Chr17:10414439 [GRCh38]
Chr17:10317756 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5115C>T (p.Ala1705=) single nucleotide variant Hecht syndrome [RCV001118528] Chr17:10394300 [GRCh38]
Chr17:10297617 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1899T>C (p.Asp633=) single nucleotide variant Hecht syndrome [RCV001120471] Chr17:10409163 [GRCh38]
Chr17:10312480 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.304C>G (p.Pro102Ala) single nucleotide variant Hecht syndrome [RCV001120566]|MYH8-related condition [RCV003938469] Chr17:10418937 [GRCh38]
Chr17:10322254 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_002472.3(MYH8):c.2439A>G (p.Ala813=) single nucleotide variant Hecht syndrome [RCV001120170] Chr17:10404579 [GRCh38]
Chr17:10307896 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.172G>C (p.Glu58Gln) single nucleotide variant Hecht syndrome [RCV001115654] Chr17:10420056 [GRCh38]
Chr17:10323373 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.277A>G (p.Met93Val) single nucleotide variant Hecht syndrome [RCV001120567]|Inborn genetic diseases [RCV002556587]|not provided [RCV003130158] Chr17:10418964 [GRCh38]
Chr17:10322281 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:9982717-10415840)x3 copy number gain not provided [RCV000846154] Chr17:9982717..10415840 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.351C>T (p.Ile117=) single nucleotide variant not provided [RCV000914613] Chr17:10418890 [GRCh38]
Chr17:10322207 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.5281G>A (p.Ala1761Thr) single nucleotide variant Inborn genetic diseases [RCV002723638] Chr17:10393096 [GRCh38]
Chr17:10296413 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:10233434-10305820)x1 copy number loss not provided [RCV000846436] Chr17:10233434..10305820 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.447G>A (p.Lys149=) single nucleotide variant not provided [RCV000996490] Chr17:10418709 [GRCh38]
Chr17:10322026 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5543G>A (p.Arg1848Gln) single nucleotide variant Hecht syndrome [RCV001115382] Chr17:10392567 [GRCh38]
Chr17:10295884 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3680T>G (p.Leu1227Arg) single nucleotide variant Hecht syndrome [RCV001115465] Chr17:10400445 [GRCh38]
Chr17:10303762 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5112C>A (p.Ile1704=) single nucleotide variant Hecht syndrome [RCV001118529] Chr17:10394303 [GRCh38]
Chr17:10297620 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5323G>A (p.Glu1775Lys) single nucleotide variant not provided [RCV001093233] Chr17:10392971 [GRCh38]
Chr17:10296288 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5166+249_5166+257del deletion not provided [RCV001555213] Chr17:10393992..10394000 [GRCh38]
Chr17:10297309..10297317 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.5664+223C>T single nucleotide variant not provided [RCV001534566] Chr17:10391659 [GRCh38]
Chr17:10294976 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.2433-165GT[11] microsatellite not provided [RCV001678601] Chr17:10404727..10404728 [GRCh38]
Chr17:10308044..10308045 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.5166+179dup duplication not provided [RCV001617579] Chr17:10394063..10394064 [GRCh38]
Chr17:10297380..10297381 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.551G>C (p.Gly184Ala) single nucleotide variant not provided [RCV001531255] Chr17:10415569 [GRCh38]
Chr17:10318886 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5376G>A (p.Thr1792=) single nucleotide variant not provided [RCV000909043] Chr17:10392918 [GRCh38]
Chr17:10296235 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.1632T>C (p.Pro544=) single nucleotide variant Carney complex - trismus - pseudocamptodactyly syndrome [RCV002489324]|Hecht syndrome [RCV001115563]|MYH8-related condition [RCV003960662]|not provided [RCV000955215] Chr17:10409544 [GRCh38]
Chr17:10312861 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.5459C>T (p.Ala1820Val) single nucleotide variant Hecht syndrome [RCV001115384]|not provided [RCV000967437] Chr17:10392835 [GRCh38]
Chr17:10296152 [GRCh37]
Chr17:17p13.1		 benign|uncertain significance
NM_002472.3(MYH8):c.726C>T (p.Asp242=) single nucleotide variant not provided [RCV000907206] Chr17:10415307 [GRCh38]
Chr17:10318624 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.4962+10T>C single nucleotide variant not provided [RCV000927983] Chr17:10395123 [GRCh38]
Chr17:10298440 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.479T>A (p.Ile160Asn) single nucleotide variant Carney complex - trismus - pseudocamptodactyly syndrome [RCV002502761]|not provided [RCV000915152] Chr17:10418677 [GRCh38]
Chr17:10321994 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.405G>A (p.Pro135=) single nucleotide variant not provided [RCV000937235] Chr17:10418751 [GRCh38]
Chr17:10322068 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.4158A>C (p.Thr1386=) single nucleotide variant not provided [RCV000939202] Chr17:10398464 [GRCh38]
Chr17:10301781 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.2999A>C (p.Lys1000Thr) single nucleotide variant not provided [RCV000931293] Chr17:10401384 [GRCh38]
Chr17:10304701 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.2998A>G (p.Lys1000Glu) single nucleotide variant not provided [RCV000931294] Chr17:10401385 [GRCh38]
Chr17:10304702 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.4784G>C (p.Arg1595Thr) single nucleotide variant not provided [RCV000971236] Chr17:10395311 [GRCh38]
Chr17:10298628 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.1150G>A (p.Ala384Thr) single nucleotide variant Hecht syndrome [RCV001115567] Chr17:10412726 [GRCh38]
Chr17:10316043 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3918G>A (p.Arg1306=) single nucleotide variant Hecht syndrome [RCV001120364] Chr17:10398831 [GRCh38]
Chr17:10302148 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.11:g.(?_9794928)_(10547930_?)del deletion Myopathy, proximal, and ophthalmoplegia [RCV001032635] Chr17:9698245..10451247 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_002472.3(MYH8):c.3554C>G (p.Thr1185Ser) single nucleotide variant not provided [RCV000912880] Chr17:10400571 [GRCh38]
Chr17:10303888 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_002472.3(MYH8):c.5115C>A (p.Ala1705=) single nucleotide variant not provided [RCV000889270] Chr17:10394300 [GRCh38]
Chr17:10297617 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.1755T>C (p.Tyr585=) single nucleotide variant not provided [RCV000935969] Chr17:10409421 [GRCh38]
Chr17:10312738 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.1650C>T (p.Ser550=) single nucleotide variant not provided [RCV000890312]|not specified [RCV001818664] Chr17:10409526 [GRCh38]
Chr17:10312843 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.1155C>T (p.Asp385=) single nucleotide variant not provided [RCV000913511] Chr17:10412721 [GRCh38]
Chr17:10316038 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.539+1G>A single nucleotide variant not provided [RCV000934798] Chr17:10415680 [GRCh38]
Chr17:10318997 [GRCh37]
Chr17:17p13.1		 pathogenic|likely benign
NM_002472.3(MYH8):c.954G>C (p.Gln318His) single nucleotide variant Hecht syndrome [RCV001116996]|MYH8-related condition [RCV003932994]|not provided [RCV000911878] Chr17:10414246 [GRCh38]
Chr17:10317563 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_002472.3(MYH8):c.4178+120dup duplication not provided [RCV001561875] Chr17:10398323..10398324 [GRCh38]
Chr17:10301640..10301641 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.806-30T>C single nucleotide variant not provided [RCV001619681] Chr17:10414514 [GRCh38]
Chr17:10317831 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.5569-203G>A single nucleotide variant not provided [RCV001643982] Chr17:10392180 [GRCh38]
Chr17:10295497 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.4179-137C>T single nucleotide variant not provided [RCV001552889] Chr17:10397123 [GRCh38]
Chr17:10300440 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.2433-182C>T single nucleotide variant not provided [RCV001678063] Chr17:10404767 [GRCh38]
Chr17:10308084 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.1147+15T>G single nucleotide variant not provided [RCV001553525] Chr17:10413887 [GRCh38]
Chr17:10317204 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.3862+276CA[12] microsatellite not provided [RCV001596737] Chr17:10399249..10399250 [GRCh38]
Chr17:10302566..10302567 [GRCh37]
Chr17:17p13.1		 benign
GRCh37/hg19 17p13.1(chr17:10240025-10307705)x1 copy number loss not provided [RCV002473676] Chr17:10240025..10307705 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5166+229dup duplication not provided [RCV001530770] Chr17:10393991..10393992 [GRCh38]
Chr17:10297308..10297309 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.512-123T>C single nucleotide variant not provided [RCV001594707] Chr17:10415831 [GRCh38]
Chr17:10319148 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.806-41T>C single nucleotide variant not provided [RCV001536670] Chr17:10414525 [GRCh38]
Chr17:10317842 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.5568+239G>A single nucleotide variant not provided [RCV001676170] Chr17:10392303 [GRCh38]
Chr17:10295620 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.4962+149A>G single nucleotide variant not provided [RCV001638860] Chr17:10394984 [GRCh38]
Chr17:10298301 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.3862+174C>T single nucleotide variant not provided [RCV001597759] Chr17:10399369 [GRCh38]
Chr17:10302686 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.1147+94C>T single nucleotide variant not provided [RCV001652357] Chr17:10413808 [GRCh38]
Chr17:10317125 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.3736-158C>G single nucleotide variant not provided [RCV001689040] Chr17:10399827 [GRCh38]
Chr17:10303144 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.1417-131G>A single nucleotide variant not provided [RCV001673375] Chr17:10411078 [GRCh38]
Chr17:10314395 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.1148-230G>A single nucleotide variant not provided [RCV001694728] Chr17:10412958 [GRCh38]
Chr17:10316275 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.1148-235C>T single nucleotide variant not provided [RCV001717880] Chr17:10412963 [GRCh38]
Chr17:10316280 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.2433-167_2433-166insCG insertion not provided [RCV001678238] Chr17:10404751..10404752 [GRCh38]
Chr17:10308068..10308069 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.*19A>G single nucleotide variant Hecht syndrome [RCV001121958] Chr17:10390435 [GRCh38]
Chr17:10293752 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1667A>C (p.Tyr556Ser) single nucleotide variant not provided [RCV001171922] Chr17:10409509 [GRCh38]
Chr17:10312826 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2433-167_2433-166insCGTG insertion not provided [RCV001693996] Chr17:10404751..10404752 [GRCh38]
Chr17:10308068..10308069 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.1536G>C (p.Thr512=) single nucleotide variant not provided [RCV001615471] Chr17:10410828 [GRCh38]
Chr17:10314145 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.806-139T>C single nucleotide variant not provided [RCV001611457] Chr17:10414623 [GRCh38]
Chr17:10317940 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.3863-108CA[6] microsatellite not provided [RCV001583856] Chr17:10398984..10398985 [GRCh38]
Chr17:10302301..10302302 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.1416+131C>T single nucleotide variant not provided [RCV001682409] Chr17:10412239 [GRCh38]
Chr17:10315556 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.4649C>G (p.Ala1550Gly) single nucleotide variant not provided [RCV001567092] Chr17:10396334 [GRCh38]
Chr17:10299651 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.-93T>G single nucleotide variant Hecht syndrome [RCV001117080]|not provided [RCV003405325] Chr17:10421948 [GRCh38]
Chr17:10325265 [GRCh37]
Chr17:17p13.1		 benign|uncertain significance
NM_002472.3(MYH8):c.1640C>T (p.Thr547Met) single nucleotide variant Carney complex - trismus - pseudocamptodactyly syndrome [RCV001198664] Chr17:10409536 [GRCh38]
Chr17:10312853 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4724T>C (p.Val1575Ala) single nucleotide variant Carney complex - trismus - pseudocamptodactyly syndrome [RCV001198663] Chr17:10395371 [GRCh38]
Chr17:10298688 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3408G>A (p.Glu1136=) single nucleotide variant Hecht syndrome [RCV001118627] Chr17:10400717 [GRCh38]
Chr17:10304034 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3643C>A (p.Arg1215=) single nucleotide variant Hecht syndrome [RCV001115466] Chr17:10400482 [GRCh38]
Chr17:10303799 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1583A>G (p.Glu528Gly) single nucleotide variant Hecht syndrome [RCV001115565] Chr17:10410781 [GRCh38]
Chr17:10314098 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.*33G>C single nucleotide variant Hecht syndrome [RCV001121957] Chr17:10390421 [GRCh38]
Chr17:10293738 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3754T>C (p.Cys1252Arg) single nucleotide variant Hecht syndrome [RCV001115463] Chr17:10399651 [GRCh38]
Chr17:10302968 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1587+4G>A single nucleotide variant Hecht syndrome [RCV001115564] Chr17:10410773 [GRCh38]
Chr17:10314090 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.59G>A (p.Arg20Gln) single nucleotide variant Hecht syndrome [RCV001115657]|Inborn genetic diseases [RCV002556274]|not provided [RCV001759881] Chr17:10420169 [GRCh38]
Chr17:10323486 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1054A>C (p.Ile352Leu) single nucleotide variant Hecht syndrome [RCV001116992]|Inborn genetic diseases [RCV003293886] Chr17:10413995 [GRCh38]
Chr17:10317312 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.539+1G>C single nucleotide variant Carney complex variant [RCV001293914] Chr17:10415680 [GRCh38]
Chr17:10318997 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_002472.3(MYH8):c.797T>C (p.Ile266Thr) single nucleotide variant Hecht syndrome [RCV001262909] Chr17:10415124 [GRCh38]
Chr17:10318441 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2171+82T>A single nucleotide variant not provided [RCV001539319] Chr17:10406608 [GRCh38]
Chr17:10309925 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.4543C>A (p.Leu1515Ile) single nucleotide variant not provided [RCV001354725] Chr17:10396440 [GRCh38]
Chr17:10299757 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2465G>A (p.Arg822His) single nucleotide variant not provided [RCV001354687] Chr17:10404553 [GRCh38]
Chr17:10307870 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.354+1G>C single nucleotide variant Carney complex variant [RCV001334057] Chr17:10418886 [GRCh38]
Chr17:10322203 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_002472.3(MYH8):c.2376del (p.Ala793fs) deletion Carney complex variant [RCV001292681] Chr17:10406097 [GRCh38]
Chr17:10309414 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_002472.3(MYH8):c.3254+1G>A single nucleotide variant Carney complex variant [RCV001334055] Chr17:10401045 [GRCh38]
Chr17:10304362 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:10106970-10512523)x3 copy number gain See cases [RCV001420506] Chr17:10106970..10512523 [GRCh38]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3310G>T (p.Glu1104Ter) single nucleotide variant Carney complex variant [RCV001334056] Chr17:10400904 [GRCh38]
Chr17:10304221 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_002472.3(MYH8):c.3953del (p.Leu1318fs) deletion Carney complex variant [RCV001334058] Chr17:10398796 [GRCh38]
Chr17:10302113 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_002472.3(MYH8):c.5166+178G>C single nucleotide variant not provided [RCV001710775] Chr17:10394071 [GRCh38]
Chr17:10297388 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.3345+36A>G single nucleotide variant not provided [RCV001698689] Chr17:10400833 [GRCh38]
Chr17:10304150 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.1417-111C>T single nucleotide variant not provided [RCV001538658] Chr17:10411058 [GRCh38]
Chr17:10314375 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.1148-234A>G single nucleotide variant not provided [RCV001708280] Chr17:10412962 [GRCh38]
Chr17:10316279 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.5568+237del deletion not provided [RCV001698926] Chr17:10392305 [GRCh38]
Chr17:10295622 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.3862+276CA[10] microsatellite not provided [RCV001592055] Chr17:10399249..10399250 [GRCh38]
Chr17:10302566..10302567 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.5166+229_5166+230dup duplication not provided [RCV001592134] Chr17:10393991..10393992 [GRCh38]
Chr17:10297308..10297309 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.5166+257del deletion not provided [RCV001692625] Chr17:10393992 [GRCh38]
Chr17:10297309 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.3619G>A (p.Gly1207Arg) single nucleotide variant not specified [RCV002250091] Chr17:10400506 [GRCh38]
Chr17:10303823 [GRCh37]
Chr17:17p13.1		 benign
NM_002472.3(MYH8):c.2433-167_2433-166insCGTGTG insertion not provided [RCV001786042] Chr17:10404751..10404752 [GRCh38]
Chr17:10308068..10308069 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.1416+215G>A single nucleotide variant not provided [RCV001794720] Chr17:10412155 [GRCh38]
Chr17:10315472 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.2230G>A (p.Ala744Thr) single nucleotide variant not provided [RCV001765467] Chr17:10406339 [GRCh38]
Chr17:10309656 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1147+147C>G single nucleotide variant not provided [RCV001794817] Chr17:10413755 [GRCh38]
Chr17:10317072 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.4962+137T>C single nucleotide variant not provided [RCV001794666] Chr17:10394996 [GRCh38]
Chr17:10298313 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.3736-263C>T single nucleotide variant not provided [RCV001794771] Chr17:10399932 [GRCh38]
Chr17:10303249 [GRCh37]
Chr17:17p13.1		 likely benign
NC_000017.11:g.10390312del deletion not provided [RCV001797284] Chr17:10390312 [GRCh38]
Chr17:10293629 [GRCh37]
Chr17:17p13.1		 likely benign
GRCh37/hg19 17p13.1(chr17:10240024-10307705) copy number loss not specified [RCV002052589] Chr17:10240024..10307705 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:10278214-10318636) copy number loss not specified [RCV002052590] Chr17:10278214..10318636 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:10240025-10295515)x1 copy number loss not provided [RCV001827881] Chr17:10240025..10295515 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3977C>T (p.Thr1326Ile) single nucleotide variant Inborn genetic diseases [RCV003294705] Chr17:10398772 [GRCh38]
Chr17:10302089 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.-30-104G>C single nucleotide variant not provided [RCV002244387] Chr17:10420361 [GRCh38]
Chr17:10323678 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.4179-194C>T single nucleotide variant not provided [RCV002285686] Chr17:10397180 [GRCh38]
Chr17:10300497 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.3790A>G (p.Thr1264Ala) single nucleotide variant not provided [RCV003234380] Chr17:10399615 [GRCh38]
Chr17:10302932 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2172-4G>T single nucleotide variant Hecht syndrome [RCV002470418] Chr17:10406401 [GRCh38]
Chr17:10309718 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4122G>T (p.Trp1374Cys) single nucleotide variant Inborn genetic diseases [RCV003287872] Chr17:10398500 [GRCh38]
Chr17:10301817 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.611C>G (p.Thr204Ser) single nucleotide variant Inborn genetic diseases [RCV002772519] Chr17:10415509 [GRCh38]
Chr17:10318826 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3860C>T (p.Ala1287Val) single nucleotide variant not provided [RCV003131649] Chr17:10399545 [GRCh38]
Chr17:10302862 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.629A>G (p.Asp210Gly) single nucleotide variant not provided [RCV002306053] Chr17:10415491 [GRCh38]
Chr17:10318808 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2036A>G (p.Asn679Ser) single nucleotide variant Inborn genetic diseases [RCV002990527] Chr17:10406909 [GRCh38]
Chr17:10310226 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2777C>A (p.Thr926Asn) single nucleotide variant Inborn genetic diseases [RCV002905929] Chr17:10401697 [GRCh38]
Chr17:10305014 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.320A>G (p.Asn107Ser) single nucleotide variant Inborn genetic diseases [RCV002753190]|MYH8-related condition [RCV003420437]|not provided [RCV003327591] Chr17:10418921 [GRCh38]
Chr17:10322238 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1334G>A (p.Arg445His) single nucleotide variant Inborn genetic diseases [RCV002732615] Chr17:10412452 [GRCh38]
Chr17:10315769 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3433G>A (p.Glu1145Lys) single nucleotide variant Inborn genetic diseases [RCV002818049] Chr17:10400692 [GRCh38]
Chr17:10304009 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5442G>C (p.Gln1814His) single nucleotide variant Inborn genetic diseases [RCV002688968] Chr17:10392852 [GRCh38]
Chr17:10296169 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4552C>A (p.Gln1518Lys) single nucleotide variant Inborn genetic diseases [RCV002864133] Chr17:10396431 [GRCh38]
Chr17:10299748 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5587A>T (p.Asn1863Tyr) single nucleotide variant Inborn genetic diseases [RCV002882442] Chr17:10391959 [GRCh38]
Chr17:10295276 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.100T>C (p.Phe34Leu) single nucleotide variant Inborn genetic diseases [RCV002924219] Chr17:10420128 [GRCh38]
Chr17:10323445 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1333C>T (p.Arg445Cys) single nucleotide variant Inborn genetic diseases [RCV002981707] Chr17:10412453 [GRCh38]
Chr17:10315770 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4750G>A (p.Glu1584Lys) single nucleotide variant Inborn genetic diseases [RCV002849001] Chr17:10395345 [GRCh38]
Chr17:10298662 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3147G>A (p.Met1049Ile) single nucleotide variant Inborn genetic diseases [RCV002888814] Chr17:10401153 [GRCh38]
Chr17:10304470 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5086G>A (p.Glu1696Lys) single nucleotide variant Inborn genetic diseases [RCV002823466] Chr17:10394329 [GRCh38]
Chr17:10297646 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4135G>A (p.Glu1379Lys) single nucleotide variant Inborn genetic diseases [RCV002950503] Chr17:10398487 [GRCh38]
Chr17:10301804 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3560A>G (p.Gln1187Arg) single nucleotide variant Inborn genetic diseases [RCV002919530] Chr17:10400565 [GRCh38]
Chr17:10303882 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4086G>C (p.Arg1362Ser) single nucleotide variant Inborn genetic diseases [RCV002929354] Chr17:10398536 [GRCh38]
Chr17:10301853 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2825A>G (p.Lys942Arg) single nucleotide variant Inborn genetic diseases [RCV002957046] Chr17:10401649 [GRCh38]
Chr17:10304966 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.259T>C (p.Tyr87His) single nucleotide variant Inborn genetic diseases [RCV002875088] Chr17:10418982 [GRCh38]
Chr17:10322299 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3821A>G (p.Asn1274Ser) single nucleotide variant Inborn genetic diseases [RCV002893834] Chr17:10399584 [GRCh38]
Chr17:10302901 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4268G>A (p.Arg1423Gln) single nucleotide variant Inborn genetic diseases [RCV002665571] Chr17:10396897 [GRCh38]
Chr17:10300214 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1101C>G (p.Phe367Leu) single nucleotide variant Inborn genetic diseases [RCV002804709] Chr17:10413948 [GRCh38]
Chr17:10317265 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4808C>T (p.Thr1603Met) single nucleotide variant Inborn genetic diseases [RCV002988936] Chr17:10395287 [GRCh38]
Chr17:10298604 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5572G>C (p.Glu1858Gln) single nucleotide variant Inborn genetic diseases [RCV002939910] Chr17:10391974 [GRCh38]
Chr17:10295291 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3304G>A (p.Ala1102Thr) single nucleotide variant Inborn genetic diseases [RCV002900938] Chr17:10400910 [GRCh38]
Chr17:10304227 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2087T>C (p.Leu696Pro) single nucleotide variant Inborn genetic diseases [RCV002648574] Chr17:10406774 [GRCh38]
Chr17:10310091 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.499T>A (p.Phe167Ile) single nucleotide variant Inborn genetic diseases [RCV002936496] Chr17:10418657 [GRCh38]
Chr17:10321974 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3392C>T (p.Ser1131Phe) single nucleotide variant Inborn genetic diseases [RCV002936514] Chr17:10400733 [GRCh38]
Chr17:10304050 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3811C>T (p.Arg1271Trp) single nucleotide variant Inborn genetic diseases [RCV002674986] Chr17:10399594 [GRCh38]
Chr17:10302911 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2396T>A (p.Leu799Gln) single nucleotide variant Inborn genetic diseases [RCV002747036] Chr17:10406077 [GRCh38]
Chr17:10309394 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.662A>T (p.Asp221Val) single nucleotide variant Inborn genetic diseases [RCV002934892] Chr17:10415371 [GRCh38]
Chr17:10318688 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.184G>A (p.Val62Ile) single nucleotide variant Inborn genetic diseases [RCV002652460] Chr17:10420044 [GRCh38]
Chr17:10323361 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5728G>A (p.Glu1910Lys) single nucleotide variant Inborn genetic diseases [RCV002677267] Chr17:10390540 [GRCh38]
Chr17:10293857 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3980A>C (p.Lys1327Thr) single nucleotide variant not provided [RCV003131648] Chr17:10398769 [GRCh38]
Chr17:10302086 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1726G>A (p.Ala576Thr) single nucleotide variant Inborn genetic diseases [RCV003257723] Chr17:10409450 [GRCh38]
Chr17:10312767 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2273A>G (p.Gln758Arg) single nucleotide variant Inborn genetic diseases [RCV003212132] Chr17:10406296 [GRCh38]
Chr17:10309613 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5538T>A (p.His1846Gln) single nucleotide variant Inborn genetic diseases [RCV003219632] Chr17:10392572 [GRCh38]
Chr17:10295889 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5636A>T (p.Lys1879Ile) single nucleotide variant Inborn genetic diseases [RCV003203950] Chr17:10391910 [GRCh38]
Chr17:10295227 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3684G>C (p.Lys1228Asn) single nucleotide variant Inborn genetic diseases [RCV003174943] Chr17:10400441 [GRCh38]
Chr17:10303758 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3101T>C (p.Val1034Ala) single nucleotide variant not provided [RCV003132785] Chr17:10401282 [GRCh38]
Chr17:10304599 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1276G>T (p.Ala426Ser) single nucleotide variant Inborn genetic diseases [RCV003194956] Chr17:10412510 [GRCh38]
Chr17:10315827 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1271A>C (p.Tyr424Ser) single nucleotide variant Inborn genetic diseases [RCV003194955] Chr17:10412515 [GRCh38]
Chr17:10315832 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4253A>C (p.Glu1418Ala) single nucleotide variant not provided [RCV003229168] Chr17:10396912 [GRCh38]
Chr17:10300229 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.365G>A (p.Gly122Asp) single nucleotide variant Inborn genetic diseases [RCV003185274] Chr17:10418791 [GRCh38]
Chr17:10322108 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.835C>G (p.Gln279Glu) single nucleotide variant Inborn genetic diseases [RCV003260938] Chr17:10414455 [GRCh38]
Chr17:10317772 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3667G>A (p.Glu1223Lys) single nucleotide variant Inborn genetic diseases [RCV003193337] Chr17:10400458 [GRCh38]
Chr17:10303775 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1270T>A (p.Tyr424Asn) single nucleotide variant Inborn genetic diseases [RCV003211859] Chr17:10412516 [GRCh38]
Chr17:10315833 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5140G>A (p.Glu1714Lys) single nucleotide variant not provided [RCV003219044] Chr17:10394275 [GRCh38]
Chr17:10297592 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2498T>G (p.Met833Arg) single nucleotide variant Inborn genetic diseases [RCV003194463] Chr17:10404520 [GRCh38]
Chr17:10307837 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.854G>A (p.Ser285Asn) single nucleotide variant Inborn genetic diseases [RCV003286414] Chr17:10414436 [GRCh38]
Chr17:10317753 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NM_002472.3(MYH8):c.601A>G (p.Ile201Val) single nucleotide variant Inborn genetic diseases [RCV003359510] Chr17:10415519 [GRCh38]
Chr17:10318836 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1580T>C (p.Ile527Thr) single nucleotide variant MYH8-related condition [RCV003419118] Chr17:10410784 [GRCh38]
Chr17:10314101 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2017G>A (p.Val673Ile) single nucleotide variant Inborn genetic diseases [RCV003366994] Chr17:10406928 [GRCh38]
Chr17:10310245 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.5064C>G (p.Ile1688Met) single nucleotide variant Inborn genetic diseases [RCV003369085] Chr17:10394351 [GRCh38]
Chr17:10297668 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1937C>T (p.Ser646Phe) single nucleotide variant Inborn genetic diseases [RCV003355195] Chr17:10409125 [GRCh38]
Chr17:10312442 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.3803A>T (p.Glu1268Val) single nucleotide variant not provided [RCV003488093] Chr17:10399602 [GRCh38]
Chr17:10302919 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:10101525-10415863)x3 copy number gain not provided [RCV003456992] Chr17:10101525..10415863 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4172A>G (p.Glu1391Gly) single nucleotide variant not provided [RCV003429136] Chr17:10398450 [GRCh38]
Chr17:10301767 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2998_2999delinsGC (p.Lys1000Ala) indel MYH8-related condition [RCV003402367] Chr17:10401384..10401385 [GRCh38]
Chr17:10304701..10304702 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.2020C>T (p.Arg674Trp) single nucleotide variant MYH8-related condition [RCV003402620] Chr17:10406925 [GRCh38]
Chr17:10310242 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.1548T>C (p.Phe516=) single nucleotide variant not provided [RCV003413150] Chr17:10410816 [GRCh38]
Chr17:10314133 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.3137A>C (p.Lys1046Thr) single nucleotide variant not specified [RCV003489777] Chr17:10401163 [GRCh38]
Chr17:10304480 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.355-9T>C single nucleotide variant MYH8-related condition [RCV003892276] Chr17:10418810 [GRCh38]
Chr17:10322127 [GRCh37]
Chr17:17p13.1		 likely benign
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NC_000017.10:g.(?_10293638)_(10298759_10299646)del deletion not specified [RCV003988299] Chr17:10293638..10298759 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.4962+7G>A single nucleotide variant MYH8-related condition [RCV003949391] Chr17:10395126 [GRCh38]
Chr17:10298443 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.1659C>A (p.Asn553Lys) single nucleotide variant MYH8-related condition [RCV003899722] Chr17:10409517 [GRCh38]
Chr17:10312834 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_002472.3(MYH8):c.417C>T (p.Pro139=) single nucleotide variant MYH8-related condition [RCV003947328] Chr17:10418739 [GRCh38]
Chr17:10322056 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.405G>T (p.Pro135=) single nucleotide variant MYH8-related condition [RCV003913884] Chr17:10418751 [GRCh38]
Chr17:10322068 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.4353C>T (p.Asn1451=) single nucleotide variant MYH8-related condition [RCV003951411] Chr17:10396812 [GRCh38]
Chr17:10300129 [GRCh37]
Chr17:17p13.1		 likely benign
NM_002472.3(MYH8):c.3893A>G (p.Asp1298Gly) single nucleotide variant Inborn genetic diseases [RCV003345375] Chr17:10398856 [GRCh38]
Chr17:10302173 [GRCh37]
Chr17:17p13.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:94
Count of miRNA genes:82
Interacting mature miRNAs:83
Transcripts:ENST00000403437
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
RH74898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371710,293,672 - 10,293,783UniSTSGRCh37
Build 361710,234,397 - 10,234,508RGDNCBI36
Celera1710,324,529 - 10,324,640RGD
Cytogenetic Map17p13.1UniSTS
HuRef1710,193,275 - 10,193,386UniSTS
SHGC-171513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371710,312,407 - 10,312,698UniSTSGRCh37
Build 361710,253,132 - 10,253,423RGDNCBI36
Celera1710,343,268 - 10,343,559RGD
Cytogenetic Map17p13.1UniSTS
HuRef1710,212,020 - 10,212,311UniSTS
TNG Radiation Hybrid Map176299.0UniSTS
STS-M36769  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17p13.1UniSTS
GeneMap99-GB4 RH Map1768.74UniSTS
NCBI RH Map17279.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 3 2
Medium 1 1 1 229 230 14 3 2 228
Low 12 6 9 21 37 1 524 508 9 121 198 21 21 2 503 2 1
Below cutoff 1271 1698 505 202 653 93 1735 818 1785 124 685 561 112 1 580 1180

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000403437   ⟹   ENSP00000384330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1710,390,322 - 10,421,950 (-)Ensembl
RefSeq Acc Id: NM_002472   ⟹   NP_002463
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381710,390,322 - 10,421,950 (-)NCBI
GRCh371710,293,642 - 10,325,267 (-)ENTREZGENE
Build 361710,234,367 - 10,265,992 (-)NCBI Archive
HuRef1710,193,245 - 10,224,879 (-)ENTREZGENE
CHM1_11710,303,513 - 10,335,135 (-)NCBI
T2T-CHM13v2.01710,297,824 - 10,329,456 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054316237   ⟹   XP_054172212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01710,297,824 - 10,333,264 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_002463   ⟸   NM_002472
- UniProtKB: Q14910 (UniProtKB/Swiss-Prot),   P13535 (UniProtKB/Swiss-Prot),   V9HWC1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000384330   ⟸   ENST00000403437
RefSeq Acc Id: XP_054172212   ⟸   XM_054316237
- Peptide Label: isoform X1
- UniProtKB: P13535 (UniProtKB/Swiss-Prot),   Q14910 (UniProtKB/Swiss-Prot)
Protein Domains
IQ   Myosin motor   Myosin N-terminal SH3-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P13535-F1-model_v2 AlphaFold P13535 1-1937 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7578 AgrOrtholog
COSMIC MYH8 COSMIC
Ensembl Genes ENSG00000133020 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000403437 ENTREZGENE
  ENST00000403437.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.5.340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.5.370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.5.4820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.58.530 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.30.360 UniProtKB/Swiss-Prot
  3.40.850.10 UniProtKB/Swiss-Prot
  6.10.250.2420 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinesin motor domain UniProtKB/TrEMBL
  Myosin S1 fragment, N-terminal UniProtKB/TrEMBL
  Myosin VI head, motor domain, U50 subdomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000133020 GTEx
HGNC ID HGNC:7578 ENTREZGENE
Human Proteome Map MYH8 Human Proteome Map
InterPro IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinesin_motor_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_head_motor_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_S1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_tail UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XRCC4-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4626 UniProtKB/Swiss-Prot
NCBI Gene 4626 ENTREZGENE
OMIM 160741 OMIM
PANTHER MYOSIN HEAVY CHAIN, NON-MUSCLE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYOSIN-1 UniProtKB/TrEMBL
  MYOSIN-8 UniProtKB/Swiss-Prot
Pfam Myosin_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_tail_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31376 PharmGKB
PRINTS MYOSINHEAVY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MYOSIN_MOTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MYSc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00015 UniProtKB/TrEMBL
Superfamily-SCOP Myosin rod fragments UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop containing nucleoside triphosphate hydrolases UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  Tropomyosin UniProtKB/Swiss-Prot
UniProt MYH8_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14910 ENTREZGENE
  V9HWC1 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q14910 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 MYH8  myosin heavy chain 8    myosin, heavy chain 8, skeletal muscle, perinatal  Symbol and/or name change 5135510 APPROVED