MYO18B (myosin XVIIIB) - Rat Genome Database

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Gene: MYO18B (myosin XVIIIB) Homo sapiens
Analyze
Symbol: MYO18B
Name: myosin XVIIIB
RGD ID: 1349934
HGNC Page HGNC:18150
Description: Predicted to enable actin filament binding activity. Predicted to act upstream of or within cardiac muscle cell development; in utero embryonic development; and vasculogenesis. Part of unconventional myosin complex. Implicated in Klippel-Feil syndrome 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp434C2422; DKFZp779C1668; FLJ41942; KFS4; myosin 18B; myosin-XVIIIb; unconventional myosin-XVIIIb
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
GRCh382225,742,188 - 26,063,847 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2225,742,144 - 26,031,045 (+)EnsemblGRCh38hg38GRCh38
GRCh372226,138,155 - 26,427,011 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362224,468,120 - 24,757,007 (+)NCBINCBI36Build 36hg18NCBI36
Build 342224,462,673 - 24,751,561NCBI
Celera229,942,299 - 10,231,147 (+)NCBICelera
Cytogenetic Map22q12.1NCBI
HuRef229,085,589 - 9,374,875 (+)NCBIHuRef
CHM1_12226,097,561 - 26,386,572 (+)NCBICHM1_1
T2T-CHM13v2.02226,203,366 - 26,530,383 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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. 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
Additional References at PubMed
PMID:10591208   PMID:12209013   PMID:12477932   PMID:12547197   PMID:12741677   PMID:14702039   PMID:15305387   PMID:16499872   PMID:17081983   PMID:17294804   PMID:17474147   PMID:18029348  
PMID:18519826   PMID:20379614   PMID:20713499   PMID:21873635   PMID:23414517   PMID:23423138   PMID:25748484   PMID:25778778   PMID:26167880   PMID:28104788   PMID:28524877   PMID:30021884  
PMID:30390677   PMID:30581023   PMID:30948266   PMID:31343991   PMID:31871319   PMID:32707033   PMID:32877672   PMID:33179433   PMID:33555505   PMID:34349018   PMID:35831314   PMID:37071682  
PMID:38334954  


Genomics

Comparative Map Data
MYO18B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382225,742,188 - 26,063,847 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2225,742,144 - 26,031,045 (+)EnsemblGRCh38hg38GRCh38
GRCh372226,138,155 - 26,427,011 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362224,468,120 - 24,757,007 (+)NCBINCBI36Build 36hg18NCBI36
Build 342224,462,673 - 24,751,561NCBI
Celera229,942,299 - 10,231,147 (+)NCBICelera
Cytogenetic Map22q12.1NCBI
HuRef229,085,589 - 9,374,875 (+)NCBIHuRef
CHM1_12226,097,561 - 26,386,572 (+)NCBICHM1_1
T2T-CHM13v2.02226,203,366 - 26,530,383 (+)NCBIT2T-CHM13v2.0
Myo18b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395112,836,742 - 113,044,311 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5112,836,742 - 113,044,228 (-)EnsemblGRCm39 Ensembl
GRCm385112,688,876 - 112,896,461 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5112,688,876 - 112,896,362 (-)EnsemblGRCm38mm10GRCm38
MGSCv375113,117,896 - 113,325,382 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365112,929,179 - 113,129,163 (-)NCBIMGSCv36mm8
Celera5109,812,620 - 110,004,309 (-)NCBICelera
Cytogenetic Map5FNCBI
cM Map554.8NCBI
Myo18b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81249,421,062 - 49,614,127 (+)NCBIGRCr8
mRatBN7.21243,747,003 - 43,953,694 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1243,747,010 - 43,953,695 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01249,761,100 - 49,979,745 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1249,761,120 - 49,979,758 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01250,806,338 - 50,812,174 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01251,525,647 - 51,739,994 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1245,335,125 - 45,539,192 (+)NCBICelera
Cytogenetic Map12q16NCBI
Myo18b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955455437,291 - 696,376 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955455437,308 - 696,161 (+)NCBIChiLan1.0ChiLan1.0
MYO18B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22335,767,321 - 36,035,601 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12238,466,124 - 38,734,311 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0226,802,390 - 7,118,996 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12224,529,348 - 24,816,779 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2224,529,348 - 24,816,779 (+)Ensemblpanpan1.1panPan2
MYO18B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12619,520,287 - 19,776,007 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2619,536,778 - 19,773,326 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2619,386,332 - 19,641,385 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02619,886,407 - 20,141,753 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2619,902,908 - 20,141,753 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12619,591,181 - 19,846,792 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02619,856,813 - 20,112,437 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02619,926,312 - 20,181,928 (+)NCBIUU_Cfam_GSD_1.0
Myo18b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118115,106,453 - 115,334,938 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936657551,535 - 764,247 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYO18B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1443,468,514 - 43,687,727 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11443,467,823 - 43,687,729 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21446,276,886 - 46,514,866 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103223082
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1198,622,498 - 8,926,818 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl198,650,438 - 8,927,494 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045117,294,181 - 117,489,167 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Myo18b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247472,338,528 - 2,578,637 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247472,337,892 - 2,630,397 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MYO18B
2066 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032608.7(MYO18B):c.95T>C (p.Val32Ala) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003132509]|not provided [RCV001507499] Chr22:25763286 [GRCh38]
Chr22:26159253 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.678A>C (p.Gln226His) single nucleotide variant not provided [RCV001507500] Chr22:25768594 [GRCh38]
Chr22:26164561 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1311G>T (p.Trp437Cys) single nucleotide variant not provided [RCV001507501] Chr22:25769227 [GRCh38]
Chr22:26165194 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5989C>T (p.Arg1997Trp) single nucleotide variant not provided [RCV001982675] Chr22:25955197 [GRCh38]
Chr22:26351163 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
NM_032608.7(MYO18B):c.1115G>A (p.Gly372Glu) single nucleotide variant not provided [RCV001872094] Chr22:25769031 [GRCh38]
Chr22:26164998 [GRCh37]
Chr22:24494998 [NCBI36]
Chr22:22q12.1		 uncertain significance|not provided
NM_032608.7(MYO18B):c.2626C>T (p.Arg876Ter) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001335235]|not provided [RCV001854266] Chr22:25823609 [GRCh38]
Chr22:26219576 [GRCh37]
Chr22:24549576 [NCBI36]
Chr22:22q12.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_032608.5(MYO18B):c.4527G>A (p.Arg1509=) single nucleotide variant Malignant melanoma [RCV000072914] Chr22:25891396 [GRCh38]
Chr22:26287363 [GRCh37]
Chr22:24617363 [NCBI36]
Chr22:22q12.1		 not provided
NM_032608.7(MYO18B):c.4879C>T (p.Arg1627Cys) single nucleotide variant not provided [RCV002653667] Chr22:25902668 [GRCh38]
Chr22:26298635 [GRCh37]
Chr22:24628635 [NCBI36]
Chr22:22q12.1		 uncertain significance|not provided
NM_032608.5(MYO18B):c.5706C>T (p.Asp1902=) single nucleotide variant Malignant melanoma [RCV000072916] Chr22:25947786 [GRCh38]
Chr22:26343752 [GRCh37]
Chr22:24673752 [NCBI36]
Chr22:22q12.1		 not provided
NM_032608.5(MYO18B):c.6914T>C (p.Val2305Ala) single nucleotide variant Malignant melanoma [RCV000072917] Chr22:26026888 [GRCh38]
Chr22:26422854 [GRCh37]
Chr22:24752854 [NCBI36]
Chr22:22q12.1		 not provided
NM_032608.5(MYO18B):c.7332C>T (p.Phe2444=) single nucleotide variant Malignant melanoma [RCV000072918] Chr22:26027306 [GRCh38]
Chr22:26423272 [GRCh37]
Chr22:24753272 [NCBI36]
Chr22:22q12.1		 not provided
NM_032608.5(MYO18B):c.2376+4027C>T single nucleotide variant Lung cancer [RCV000101992] Chr22:25789518 [GRCh38]
Chr22:26185485 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.5(MYO18B):c.2521+3368T>C single nucleotide variant Lung cancer [RCV000101993] Chr22:25801465 [GRCh38]
Chr22:26197432 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.5(MYO18B):c.3885+4185G>T single nucleotide variant Lung cancer [RCV000101994] Chr22:25855764 [GRCh38]
Chr22:26251731 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.5(MYO18B):c.6471-7438C>A single nucleotide variant Lung cancer [RCV000101995] Chr22:26019007 [GRCh38]
Chr22:26414973 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1 copy number loss See cases [RCV000134954] Chr22:25003092..28634004 [GRCh38]
Chr22:25399059..29029992 [GRCh37]
Chr22:23729059..27359992 [NCBI36]
Chr22:22q11.23-12.1		 likely pathogenic
GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1 copy number loss See cases [RCV000136530] Chr22:25685148..28217405 [GRCh38]
Chr22:26081115..28613393 [GRCh37]
Chr22:24411115..26943393 [NCBI36]
Chr22:22q12.1		 uncertain significance
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.23-12.1(chr22:24972072-26101385)x3 copy number gain See cases [RCV000137743] Chr22:24972072..26101385 [GRCh38]
Chr22:25368039..26497351 [GRCh37]
Chr22:23698039..24827351 [NCBI36]
Chr22:22q11.23-12.1		 likely benign
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV000190875] Chr22:26026879 [GRCh38]
Chr22:26422845 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_032608.7(MYO18B):c.6496G>T (p.Glu2166Ter) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV000210031]|Nemaline myopathy [RCV004586628] Chr22:26026470 [GRCh38]
Chr22:26422436 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
NM_032608.7(MYO18B):c.3401C>A (p.Ala1134Asp) single nucleotide variant not provided [RCV000732535] Chr22:25846132 [GRCh38]
Chr22:26242099 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_032608.7(MYO18B):c.7147C>T (p.Arg2383Trp) single nucleotide variant MYO18B-related disorder [RCV003922690]|not provided [RCV000426237] Chr22:26027121 [GRCh38]
Chr22:26423087 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032608.7(MYO18B):c.7278G>T (p.Trp2426Cys) single nucleotide variant not provided [RCV000430865] Chr22:26027252 [GRCh38]
Chr22:26423218 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1136G>A (p.Arg379Gln) single nucleotide variant not provided [RCV000441163] Chr22:25769052 [GRCh38]
Chr22:26165019 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3		 pathogenic
NM_032608.7(MYO18B):c.808G>C (p.Ala270Pro) single nucleotide variant Inborn genetic diseases [RCV003274519] Chr22:25768724 [GRCh38]
Chr22:26164691 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4044G>C (p.Lys1348Asn) single nucleotide variant Inborn genetic diseases [RCV003272913] Chr22:25874378 [GRCh38]
Chr22:26270345 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2158G>T (p.Val720Leu) single nucleotide variant Inborn genetic diseases [RCV003293132] Chr22:25780145 [GRCh38]
Chr22:26176112 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_032608.7(MYO18B):c.988G>A (p.Gly330Ser) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV000660555] Chr22:25768904 [GRCh38]
Chr22:26164871 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4058G>A (p.Arg1353His) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV000714613]|not provided [RCV003106030] Chr22:25874392 [GRCh38]
Chr22:26270359 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q12.1(chr22:25974731-26175662)x1 copy number loss not provided [RCV000684460] Chr22:25974731..26175662 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3		 pathogenic
NM_032608.7(MYO18B):c.736G>T (p.Gly246Trp) single nucleotide variant Klippel-Feil syndrome [RCV000714688] Chr22:25768652 [GRCh38]
Chr22:26164619 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7345C>T (p.Arg2449Trp) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV000714655]|not provided [RCV000894378] Chr22:26027319 [GRCh38]
Chr22:26423285 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs) deletion Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV000721136]|not provided [RCV002534993] Chr22:26026633..26026643 [GRCh38]
Chr22:26422599..26422609 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_032608.7(MYO18B):c.6768del (p.Leu2257fs) deletion Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV000721135] Chr22:26026740 [GRCh38]
Chr22:26422706 [GRCh37]
Chr22:22q12.1		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.1(chr22:26303489-26354655)x1 copy number loss not provided [RCV000741883] Chr22:26303489..26354655 [GRCh37]
Chr22:22q12.1		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_032608.7(MYO18B):c.4080+251A>G single nucleotide variant not provided [RCV001649114] Chr22:25874665 [GRCh38]
Chr22:26270632 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.39+46A>G single nucleotide variant not provided [RCV001693387] Chr22:25761177 [GRCh38]
Chr22:26157144 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.340A>C (p.Ser114Arg) single nucleotide variant not provided [RCV001907810] Chr22:25768256 [GRCh38]
Chr22:26164223 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2655G>A (p.Gly885=) single nucleotide variant not provided [RCV001680135] Chr22:25823638 [GRCh38]
Chr22:26219605 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6287+247G>A single nucleotide variant not provided [RCV001609868] Chr22:25992740 [GRCh38]
Chr22:26388706 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2212-193C>T single nucleotide variant not provided [RCV001534084] Chr22:25781541 [GRCh38]
Chr22:26177508 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4225-272C>T single nucleotide variant not provided [RCV001680596] Chr22:25877687 [GRCh38]
Chr22:26273654 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5088C>T (p.Ser1696=) single nucleotide variant not provided [RCV001648745] Chr22:25903771 [GRCh38]
Chr22:26299738 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6165C>T (p.Tyr2055=) single nucleotide variant not provided [RCV001611990] Chr22:25992371 [GRCh38]
Chr22:26388337 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3060+178G>A single nucleotide variant not provided [RCV001612020] Chr22:25833175 [GRCh38]
Chr22:26229142 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4225-76G>C single nucleotide variant not provided [RCV001706986] Chr22:25877883 [GRCh38]
Chr22:26273850 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4140G>A (p.Lys1380=) single nucleotide variant not provided [RCV000893067] Chr22:25876248 [GRCh38]
Chr22:26272215 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3369-170C>A single nucleotide variant not provided [RCV001681905] Chr22:25845930 [GRCh38]
Chr22:26241897 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3208+114A>G single nucleotide variant not provided [RCV001693351] Chr22:25835557 [GRCh38]
Chr22:26231524 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5749-11dup duplication not provided [RCV001663201] Chr22:25950345..25950346 [GRCh38]
Chr22:26346311..26346312 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.991C>A (p.Pro331Thr) single nucleotide variant not provided [RCV001907659] Chr22:25768907 [GRCh38]
Chr22:26164874 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4225-33G>C single nucleotide variant not provided [RCV001644109] Chr22:25877926 [GRCh38]
Chr22:26273893 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.969AAG[1] (p.Arg325del) microsatellite Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV000985222] Chr22:25768884..25768886 [GRCh38]
Chr22:26164851..26164853 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6332+157C>A single nucleotide variant not provided [RCV001709330] Chr22:26003466 [GRCh38]
Chr22:26399432 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.39+211G>C single nucleotide variant not provided [RCV001666058] Chr22:25761342 [GRCh38]
Chr22:26157309 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2879C>T (p.Ala960Val) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001007846]|MYO18B-related disorder [RCV003923278]|not provided [RCV000920724] Chr22:25828868 [GRCh38]
Chr22:26224835 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.2541G>T (p.Met847Ile) single nucleotide variant not provided [RCV000928000] Chr22:25823524 [GRCh38]
Chr22:26219491 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6078G>T (p.Arg2026=) single nucleotide variant MYO18B-related disorder [RCV003910598]|not provided [RCV000891643] Chr22:25955286 [GRCh38]
Chr22:26351252 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.525C>G (p.Ala175=) single nucleotide variant not provided [RCV000900813] Chr22:25768441 [GRCh38]
Chr22:26164408 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1182G>C (p.Lys394Asn) single nucleotide variant Inborn genetic diseases [RCV004028330]|MYO18B-related disorder [RCV003920596]|not provided [RCV000883862] Chr22:25769098 [GRCh38]
Chr22:26165065 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.5793G>A (p.Leu1931=) single nucleotide variant not provided [RCV000900859] Chr22:25950411 [GRCh38]
Chr22:26346377 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6906G>A (p.Ser2302=) single nucleotide variant not provided [RCV000882633] Chr22:26026880 [GRCh38]
Chr22:26422846 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4116T>C (p.Asn1372=) single nucleotide variant not provided [RCV000884371] Chr22:25876224 [GRCh38]
Chr22:26272191 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4314+10T>A single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV002507559]|not provided [RCV000881950] Chr22:25878058 [GRCh38]
Chr22:26274025 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.7389T>C (p.Gly2463=) single nucleotide variant MYO18B-related disorder [RCV003916212]|not provided [RCV000966494] Chr22:26027363 [GRCh38]
Chr22:26423329 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.4632C>G (p.Asp1544Glu) single nucleotide variant not provided [RCV000924176] Chr22:25895244 [GRCh38]
Chr22:26291211 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6996C>T (p.Asp2332=) single nucleotide variant MYO18B-related disorder [RCV003906012]|not provided [RCV000971242] Chr22:26026970 [GRCh38]
Chr22:26422936 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6711G>A (p.Pro2237=) single nucleotide variant not provided [RCV000905744] Chr22:26026685 [GRCh38]
Chr22:26422651 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2583C>T (p.Cys861=) single nucleotide variant not provided [RCV000901235] Chr22:25823566 [GRCh38]
Chr22:26219533 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3132T>C (p.His1044=) single nucleotide variant not provided [RCV000899252] Chr22:25835367 [GRCh38]
Chr22:26231334 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.972A>T (p.Arg324Ser) single nucleotide variant not provided [RCV000970382] Chr22:25768888 [GRCh38]
Chr22:26164855 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.372T>C (p.Asn124=) single nucleotide variant MYO18B-related disorder [RCV003928524]|not provided [RCV000971981] Chr22:25768288 [GRCh38]
Chr22:26164255 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.309C>G (p.Asp103Glu) single nucleotide variant MYO18B-related disorder [RCV003933279]|not provided [RCV000949629] Chr22:25768225 [GRCh38]
Chr22:26164192 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1580C>T (p.Ala527Val) single nucleotide variant not provided [RCV000949630] Chr22:25770872 [GRCh38]
Chr22:26166839 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5176G>A (p.Glu1726Lys) single nucleotide variant not provided [RCV000922264] Chr22:25908349 [GRCh38]
Chr22:26304316 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.588T>C (p.Ser196=) single nucleotide variant not provided [RCV000901234] Chr22:25768504 [GRCh38]
Chr22:26164471 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7595G>A (p.Arg2532Gln) single nucleotide variant not provided [RCV000948128] Chr22:26027569 [GRCh38]
Chr22:26423535 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5402G>A (p.Arg1801Gln) single nucleotide variant MYO18B-related disorder [RCV003950622]|not provided [RCV000903830] Chr22:25921294 [GRCh38]
Chr22:26317261 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1588C>G (p.Leu530Val) single nucleotide variant Inborn genetic diseases [RCV002536838]|MYO18B-related disorder [RCV004740484]|not provided [RCV000882973] Chr22:25770880 [GRCh38]
Chr22:26166847 [GRCh37]
Chr22:22q12.1		 benign|uncertain significance
NM_032608.7(MYO18B):c.5469T>C (p.Asp1823=) single nucleotide variant MYO18B-related disorder [RCV003933115]|not provided [RCV000922623] Chr22:25921361 [GRCh38]
Chr22:26317328 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7650G>A (p.Thr2550=) single nucleotide variant not provided [RCV000903226] Chr22:26027624 [GRCh38]
Chr22:26423590 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3397C>T (p.Arg1133Trp) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001007847]|not provided [RCV001860579] Chr22:25846128 [GRCh38]
Chr22:26242095 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6433C>T (p.Arg2145Ter) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV000995814] Chr22:26004818 [GRCh38]
Chr22:26400784 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.3162C>T (p.Leu1054=) single nucleotide variant not provided [RCV000901236] Chr22:25835397 [GRCh38]
Chr22:26231364 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6885C>T (p.Gly2295=) single nucleotide variant MYO18B-related disorder [RCV003930535]|not provided [RCV000881165] Chr22:26026859 [GRCh38]
Chr22:26422825 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.522C>T (p.Asp174=) single nucleotide variant Inborn genetic diseases [RCV004028452]|not provided [RCV000895486] Chr22:25768438 [GRCh38]
Chr22:26164405 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4566C>T (p.Phe1522=) single nucleotide variant not provided [RCV000879925] Chr22:25895178 [GRCh38]
Chr22:26291145 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3398G>A (p.Arg1133Gln) single nucleotide variant not provided [RCV000972564] Chr22:25846129 [GRCh38]
Chr22:26242096 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5346C>T (p.Ile1782=) single nucleotide variant MYO18B-related disorder [RCV003912972]|not provided [RCV000908386] Chr22:25911032 [GRCh38]
Chr22:26306999 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4020C>T (p.Ile1340=) single nucleotide variant not provided [RCV000975269] Chr22:25874354 [GRCh38]
Chr22:26270321 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.525C>A (p.Ala175=) single nucleotide variant not provided [RCV000916391] Chr22:25768441 [GRCh38]
Chr22:26164408 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.804C>T (p.Pro268=) single nucleotide variant not provided [RCV000897234] Chr22:25768720 [GRCh38]
Chr22:26164687 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5559G>A (p.Thr1853=) single nucleotide variant not provided [RCV000961731] Chr22:25946178 [GRCh38]
Chr22:26342144 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3431C>T (p.Ala1144Val) single nucleotide variant Inborn genetic diseases [RCV002539302]|MYO18B-related disorder [RCV003910395]|not provided [RCV000881689] Chr22:25846162 [GRCh38]
Chr22:26242129 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032608.7(MYO18B):c.7674G>A (p.Ala2558=) single nucleotide variant not provided [RCV000921545] Chr22:26027648 [GRCh38]
Chr22:26423614 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3291C>A (p.Asp1097Glu) single nucleotide variant MYO18B-related disorder [RCV003925929]|not provided [RCV000950296] Chr22:25843817 [GRCh38]
Chr22:26239784 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6471-6G>A single nucleotide variant not provided [RCV000971446] Chr22:26026439 [GRCh38]
Chr22:26422405 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2377-4G>A single nucleotide variant MYO18B-related disorder [RCV003926212]|not provided [RCV000963534] Chr22:25797949 [GRCh38]
Chr22:26193916 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.7674G>C (p.Ala2558=) single nucleotide variant not provided [RCV000901873] Chr22:26027648 [GRCh38]
Chr22:26423614 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.407C>T (p.Thr136Ile) single nucleotide variant not provided [RCV000896865] Chr22:25768323 [GRCh38]
Chr22:26164290 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6596G>A (p.Arg2199Gln) single nucleotide variant not provided [RCV000967585] Chr22:26026570 [GRCh38]
Chr22:26422536 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7221G>A (p.Gln2407=) single nucleotide variant MYO18B-related disorder [RCV003910794]|not provided [RCV000903625] Chr22:26027195 [GRCh38]
Chr22:26423161 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.222A>G (p.Gln74=) single nucleotide variant not provided [RCV000954530] Chr22:25768138 [GRCh38]
Chr22:26164105 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4247G>A (p.Arg1416Gln) single nucleotide variant MYO18B-related disorder [RCV003910771]|not provided [RCV000902342] Chr22:25877981 [GRCh38]
Chr22:26273948 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.6159G>A (p.Glu2053=) single nucleotide variant not provided [RCV000888214] Chr22:25992365 [GRCh38]
Chr22:26388331 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5655G>A (p.Leu1885=) single nucleotide variant not provided [RCV000914066] Chr22:25947735 [GRCh38]
Chr22:26343701 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7398C>T (p.Asp2466=) single nucleotide variant not provided [RCV000893346] Chr22:26027372 [GRCh38]
Chr22:26423338 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs) duplication Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV000785017]|Klippel-Feil syndrome [RCV000785018] Chr22:25903716..25903717 [GRCh38]
Chr22:26299683..26299684 [GRCh37]
Chr22:22q12.1		 likely pathogenic
GRCh37/hg19 22q12.1(chr22:26296892-26321051)x1 copy number loss not provided [RCV000848616] Chr22:26296892..26321051 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.6282T>C (p.Thr2094=) single nucleotide variant not provided [RCV000938236] Chr22:25992488 [GRCh38]
Chr22:26388454 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5749-10G>T single nucleotide variant not provided [RCV000961237] Chr22:25950357 [GRCh38]
Chr22:26346323 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5180G>A (p.Arg1727Gln) single nucleotide variant MYO18B-related disorder [RCV003926114]|not provided [RCV000959990] Chr22:25908353 [GRCh38]
Chr22:26304320 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.2922C>T (p.Arg974=) single nucleotide variant not provided [RCV000979226] Chr22:25828911 [GRCh38]
Chr22:26224878 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.819C>T (p.Pro273=) single nucleotide variant not provided [RCV000897171] Chr22:25768735 [GRCh38]
Chr22:26164702 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6079C>T (p.Arg2027Cys) single nucleotide variant MYO18B-related disorder [RCV003910599]|not provided [RCV000891644] Chr22:25955287 [GRCh38]
Chr22:26351253 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6322C>T (p.Arg2108Ter) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001007773]|not provided [RCV001860577] Chr22:26003299 [GRCh38]
Chr22:26399265 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_032608.7(MYO18B):c.4238C>T (p.Thr1413Met) single nucleotide variant not provided [RCV002001533] Chr22:25877972 [GRCh38]
Chr22:26273939 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2594A>T (p.Glu865Val) single nucleotide variant Inborn genetic diseases [RCV003239930] Chr22:25823577 [GRCh38]
Chr22:26219544 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.307G>C (p.Asp103His) single nucleotide variant Inborn genetic diseases [RCV003249423] Chr22:25768223 [GRCh38]
Chr22:26164190 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.832C>T (p.Arg278Ter) single nucleotide variant not provided [RCV003232006] Chr22:25768748 [GRCh38]
Chr22:26164715 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NC_000022.10:g.(?_26142492)_(27026451_?)del deletion Cataract 23 [RCV003107531] Chr22:26142492..27026451 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.39+216C>A single nucleotide variant not provided [RCV001641825] Chr22:25761347 [GRCh38]
Chr22:26157314 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2068+140G>C single nucleotide variant not provided [RCV001609064] Chr22:25777921 [GRCh38]
Chr22:26173888 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.39+211del deletion not provided [RCV001688041] Chr22:25761342 [GRCh38]
Chr22:26157309 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6157-210G>A single nucleotide variant not provided [RCV001638599] Chr22:25992153 [GRCh38]
Chr22:26388119 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5365-69A>G single nucleotide variant not provided [RCV001619133] Chr22:25921188 [GRCh38]
Chr22:26317155 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4224+299TTTA[6] microsatellite not provided [RCV001614980] Chr22:25876631..25876634 [GRCh38]
Chr22:26272598..26272601 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2979+209G>A single nucleotide variant not provided [RCV001660774] Chr22:25829177 [GRCh38]
Chr22:26225144 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2695+119C>T single nucleotide variant not provided [RCV001534544] Chr22:25823797 [GRCh38]
Chr22:26219764 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6333-159A>T single nucleotide variant not provided [RCV001679448] Chr22:26004559 [GRCh38]
Chr22:26400525 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3952-47C>G single nucleotide variant not provided [RCV001598551] Chr22:25874239 [GRCh38]
Chr22:26270206 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3369-296G>C single nucleotide variant not provided [RCV001651769] Chr22:25845804 [GRCh38]
Chr22:26241771 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6471-124C>T single nucleotide variant not provided [RCV001639011] Chr22:26026321 [GRCh38]
Chr22:26422287 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5749-11del deletion Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001779327]|not provided [RCV001707099] Chr22:25950346 [GRCh38]
Chr22:26346312 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4947+188T>G single nucleotide variant not provided [RCV001638371] Chr22:25902924 [GRCh38]
Chr22:26298891 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5631+195C>T single nucleotide variant not provided [RCV001713889] Chr22:25946445 [GRCh38]
Chr22:26342411 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4669-150T>A single nucleotide variant not provided [RCV001688832] Chr22:25898157 [GRCh38]
Chr22:26294124 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.39+201T>C single nucleotide variant not provided [RCV001713536] Chr22:25761332 [GRCh38]
Chr22:26157299 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5632-215C>G single nucleotide variant not provided [RCV001645727] Chr22:25947497 [GRCh38]
Chr22:26343463 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2522-60T>C single nucleotide variant not provided [RCV001611036] Chr22:25823445 [GRCh38]
Chr22:26219412 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3209-213G>A single nucleotide variant not provided [RCV001661259] Chr22:25843522 [GRCh38]
Chr22:26239489 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5632-224AC[26] microsatellite not provided [RCV001709963] Chr22:25947488..25947491 [GRCh38]
Chr22:26343454..26343457 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5748+230C>T single nucleotide variant not provided [RCV001674294] Chr22:25948058 [GRCh38]
Chr22:26344024 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2502T>C (p.Gly834=) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001779300]|not provided [RCV001674301] Chr22:25798078 [GRCh38]
Chr22:26194045 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4543+32G>C single nucleotide variant not provided [RCV001669411] Chr22:25891444 [GRCh38]
Chr22:26287411 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.649C>T (p.Arg217Trp) single nucleotide variant not provided [RCV002284755] Chr22:25768565 [GRCh38]
Chr22:26164532 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2212-113_2212-109dup duplication not provided [RCV001696548] Chr22:25781609..25781610 [GRCh38]
Chr22:26177576..26177577 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5260-163T>C single nucleotide variant not provided [RCV001693652] Chr22:25910783 [GRCh38]
Chr22:26306750 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.40-288C>G single nucleotide variant not provided [RCV001691525] Chr22:25762943 [GRCh38]
Chr22:26158910 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6157-185T>A single nucleotide variant not provided [RCV001689320] Chr22:25992178 [GRCh38]
Chr22:26388144 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4081-145_4081-138del deletion not provided [RCV001620461] Chr22:25876039..25876046 [GRCh38]
Chr22:26272006..26272013 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2212-251G>A single nucleotide variant not provided [RCV001695985] Chr22:25781483 [GRCh38]
Chr22:26177450 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5517+294TG[9] microsatellite not provided [RCV001694384] Chr22:25921703..25921722 [GRCh38]
Chr22:26317670..26317689 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5517+294TG[18] microsatellite not provided [RCV001656559] Chr22:25921703..25921704 [GRCh38]
Chr22:26317670..26317671 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2069-279T>G single nucleotide variant not provided [RCV001614405] Chr22:25779777 [GRCh38]
Chr22:26175744 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3110G>C (p.Trp1037Ser) single nucleotide variant not provided [RCV001676767] Chr22:25835345 [GRCh38]
Chr22:26231312 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5365-64G>A single nucleotide variant not provided [RCV001620618] Chr22:25921193 [GRCh38]
Chr22:26317160 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1981T>C (p.Trp661Arg) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001779299]|not provided [RCV001673433] Chr22:25777694 [GRCh38]
Chr22:26173661 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5632-224AC[30] microsatellite not provided [RCV001673554] Chr22:25947487..25947488 [GRCh38]
Chr22:26343453..26343454 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.7537G>A (p.Gly2513Ser) single nucleotide variant not provided [RCV001656921] Chr22:26027511 [GRCh38]
Chr22:26423477 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.199-86T>C single nucleotide variant not provided [RCV001672394] Chr22:25768029 [GRCh38]
Chr22:26163996 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3885+308C>T single nucleotide variant not provided [RCV001617050] Chr22:25851887 [GRCh38]
Chr22:26247854 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5632-224AC[29] microsatellite not provided [RCV001686542] Chr22:25947487..25947488 [GRCh38]
Chr22:26343453..26343454 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5632-224AC[31] microsatellite not provided [RCV001614969] Chr22:25947487..25947488 [GRCh38]
Chr22:26343453..26343454 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2312+119G>A single nucleotide variant not provided [RCV001541782] Chr22:25781953 [GRCh38]
Chr22:26177920 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1854G>A (p.Val618=) single nucleotide variant not provided [RCV000885848] Chr22:25772495 [GRCh38]
Chr22:26168462 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2682G>A (p.Glu894=) single nucleotide variant not provided [RCV000909007] Chr22:25823665 [GRCh38]
Chr22:26219632 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2377-5C>T single nucleotide variant not provided [RCV000886053] Chr22:25797948 [GRCh38]
Chr22:26193915 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5916C>T (p.Ile1972=) single nucleotide variant MYO18B-related disorder [RCV004740507]|not provided [RCV000918825] Chr22:25952369 [GRCh38]
Chr22:26348335 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.1692+7C>T single nucleotide variant MYO18B-related disorder [RCV003977940]|not provided [RCV000907369] Chr22:25770991 [GRCh38]
Chr22:26166958 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7629C>T (p.Pro2543=) single nucleotide variant MYO18B-related disorder [RCV003923301]|not provided [RCV000923320] Chr22:26027603 [GRCh38]
Chr22:26423569 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1111A>T (p.Met371Leu) single nucleotide variant not provided [RCV000886248] Chr22:25769027 [GRCh38]
Chr22:26164994 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6226C>T (p.Arg2076Trp) single nucleotide variant MYO18B-related disorder [RCV003960646]|not provided [RCV000953108] Chr22:25992432 [GRCh38]
Chr22:26388398 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.1317A>G (p.Gly439=) single nucleotide variant not provided [RCV000950497]|not specified [RCV004702532] Chr22:25769233 [GRCh38]
Chr22:26165200 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6288-6T>C single nucleotide variant MYO18B-related disorder [RCV003910536]|not provided [RCV000888873] Chr22:26003259 [GRCh38]
Chr22:26399225 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2877G>A (p.Arg959=) single nucleotide variant not provided [RCV000923992] Chr22:25828866 [GRCh38]
Chr22:26224833 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6297G>A (p.Thr2099=) single nucleotide variant not provided [RCV000885635] Chr22:26003274 [GRCh38]
Chr22:26399240 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3886-9T>C single nucleotide variant MYO18B-related disorder [RCV004740506]|not provided [RCV000917659] Chr22:25868311 [GRCh38]
Chr22:26264278 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1725C>T (p.Asp575=) single nucleotide variant not provided [RCV000882674] Chr22:25772366 [GRCh38]
Chr22:26168333 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1580-3C>A single nucleotide variant not provided [RCV000973620] Chr22:25770869 [GRCh38]
Chr22:26166836 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6140G>A (p.Arg2047Gln) single nucleotide variant not provided [RCV000962868] Chr22:25955348 [GRCh38]
Chr22:26351314 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1675G>A (p.Glu559Lys) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003492185]|not provided [RCV000895487] Chr22:25770967 [GRCh38]
Chr22:26166934 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.3889G>A (p.Val1297Met) single nucleotide variant not provided [RCV000886462] Chr22:25868323 [GRCh38]
Chr22:26264290 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3368+51T>A single nucleotide variant not provided [RCV001643937] Chr22:25843945 [GRCh38]
Chr22:26239912 [GRCh37]
Chr22:22q12.1		 benign
GRCh37/hg19 22q12.1(chr22:26337910-28489947)x1 copy number loss not provided [RCV001007180] Chr22:26337910..28489947 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.1513-237del deletion not provided [RCV001540177] Chr22:25769860 [GRCh38]
Chr22:26165827 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6800G>C (p.Gly2267Ala) single nucleotide variant MYO18B-related disorder [RCV003930799]|not provided [RCV000891259] Chr22:26026774 [GRCh38]
Chr22:26422740 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.2400A>G (p.Ala800=) single nucleotide variant not provided [RCV000933574] Chr22:25797976 [GRCh38]
Chr22:26193943 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7176C>T (p.Asp2392=) single nucleotide variant not provided [RCV000889255] Chr22:26027150 [GRCh38]
Chr22:26423116 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1759G>C (p.Val587Leu) single nucleotide variant not provided [RCV000889176] Chr22:25772400 [GRCh38]
Chr22:26168367 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3888C>T (p.Ala1296=) single nucleotide variant not provided [RCV000889177] Chr22:25868322 [GRCh38]
Chr22:26264289 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.279C>T (p.Asp93=) single nucleotide variant MYO18B-related disorder [RCV003895548]|not provided [RCV000912254] Chr22:25768195 [GRCh38]
Chr22:26164162 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1425A>G (p.Ala475=) single nucleotide variant not provided [RCV000912255] Chr22:25769341 [GRCh38]
Chr22:26165308 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2315C>T (p.Thr772Met) single nucleotide variant not provided [RCV000889325] Chr22:25785430 [GRCh38]
Chr22:26181397 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4544-3C>T single nucleotide variant not provided [RCV000913680] Chr22:25895153 [GRCh38]
Chr22:26291120 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.7524G>A (p.Ser2508=) single nucleotide variant not provided [RCV000955851] Chr22:26027498 [GRCh38]
Chr22:26423464 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.7416C>T (p.Ser2472=) single nucleotide variant MYO18B-related disorder [RCV003958328]|not provided [RCV000911598] Chr22:26027390 [GRCh38]
Chr22:26423356 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.3924G>A (p.Lys1308=) single nucleotide variant not provided [RCV000912410] Chr22:25868358 [GRCh38]
Chr22:26264325 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.507G>A (p.Lys169=) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV002489335]|not provided [RCV000958183] Chr22:25768423 [GRCh38]
Chr22:26164390 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.549C>A (p.Pro183=) single nucleotide variant MYO18B-related disorder [RCV003915963]|not provided [RCV000958184] Chr22:25768465 [GRCh38]
Chr22:26164432 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.7515G>C (p.Leu2505=) single nucleotide variant not provided [RCV000958185] Chr22:26027489 [GRCh38]
Chr22:26423455 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.7639G>C (p.Glu2547Gln) single nucleotide variant not provided [RCV000911754] Chr22:26027613 [GRCh38]
Chr22:26423579 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2504C>T (p.Ala835Val) single nucleotide variant not provided [RCV000891070] Chr22:25798080 [GRCh38]
Chr22:26194047 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6561A>T (p.Ser2187=) single nucleotide variant not provided [RCV000891325] Chr22:26026535 [GRCh38]
Chr22:26422501 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.2966A>G (p.Gln989Arg) single nucleotide variant not provided [RCV000889326] Chr22:25828955 [GRCh38]
Chr22:26224922 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5780T>C (p.Leu1927Pro) single nucleotide variant not provided [RCV002681119] Chr22:25950398 [GRCh38]
Chr22:26346364 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2979+16A>T single nucleotide variant not provided [RCV003011650] Chr22:25828984 [GRCh38]
Chr22:26224951 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2435T>A (p.Met812Lys) single nucleotide variant Inborn genetic diseases [RCV002836580] Chr22:25798011 [GRCh38]
Chr22:26193978 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.136G>A (p.Glu46Lys) single nucleotide variant Inborn genetic diseases [RCV002748815]|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003492811] Chr22:25763327 [GRCh38]
Chr22:26159294 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5517+80A>G single nucleotide variant not provided [RCV001720778] Chr22:25921489 [GRCh38]
Chr22:26317456 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1641G>C (p.Trp547Cys) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001779268]|not provided [RCV001620895] Chr22:25770933 [GRCh38]
Chr22:26166900 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2980-79C>T single nucleotide variant not provided [RCV001621202] Chr22:25832838 [GRCh38]
Chr22:26228805 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2212-1G>A single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003234964]|not provided [RCV003708750] Chr22:25781733 [GRCh38]
Chr22:26177700 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_032608.7(MYO18B):c.5632-224AC[32] microsatellite not provided [RCV001637601] Chr22:25947487..25947488 [GRCh38]
Chr22:26343453..26343454 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1693-72G>A single nucleotide variant not provided [RCV001693623] Chr22:25772262 [GRCh38]
Chr22:26168229 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6287+320G>A single nucleotide variant not provided [RCV001678149] Chr22:25992813 [GRCh38]
Chr22:26388779 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4225-137T>C single nucleotide variant not provided [RCV001636446] Chr22:25877822 [GRCh38]
Chr22:26273789 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4081-185GT[23] microsatellite not provided [RCV001608546] Chr22:25876003..25876004 [GRCh38]
Chr22:26271970..26271971 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4948-252G>C single nucleotide variant not provided [RCV001688438] Chr22:25903379 [GRCh38]
Chr22:26299346 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3060+247G>A single nucleotide variant not provided [RCV001687252] Chr22:25833244 [GRCh38]
Chr22:26229211 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6470+146C>T single nucleotide variant not provided [RCV001676984] Chr22:26005001 [GRCh38]
Chr22:26400967 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5149-232T>C single nucleotide variant not provided [RCV001655557] Chr22:25908090 [GRCh38]
Chr22:26304057 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4947+51G>A single nucleotide variant not provided [RCV001595523] Chr22:25902787 [GRCh38]
Chr22:26298754 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.7040A>G (p.Gln2347Arg) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001779273]|not provided [RCV001639571] Chr22:26027014 [GRCh38]
Chr22:26422980 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3368+45A>G single nucleotide variant not provided [RCV001597367] Chr22:25843939 [GRCh38]
Chr22:26239906 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5631+16T>C single nucleotide variant not provided [RCV001595954] Chr22:25946266 [GRCh38]
Chr22:26342232 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5518-47C>T single nucleotide variant not provided [RCV001597675] Chr22:25946090 [GRCh38]
Chr22:26342056 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2212-108G>A single nucleotide variant not provided [RCV001675310] Chr22:25781626 [GRCh38]
Chr22:26177593 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4543+103T>C single nucleotide variant not provided [RCV001635772] Chr22:25891515 [GRCh38]
Chr22:26287482 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4823+79T>C single nucleotide variant not provided [RCV001689039] Chr22:25898540 [GRCh38]
Chr22:26294507 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.39+249GGT[5] microsatellite not provided [RCV001719178] Chr22:25761380..25761382 [GRCh38]
Chr22:26157347..26157349 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2787-111G>A single nucleotide variant not provided [RCV001669427] Chr22:25828665 [GRCh38]
Chr22:26224632 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4081-185GT[22] microsatellite not provided [RCV001693486] Chr22:25876003..25876004 [GRCh38]
Chr22:26271970..26271971 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.39+219G>C single nucleotide variant not provided [RCV001710507] Chr22:25761350 [GRCh38]
Chr22:26157317 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5632-224AC[25] microsatellite not provided [RCV001721661] Chr22:25947488..25947493 [GRCh38]
Chr22:26343454..26343459 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3208+187A>G single nucleotide variant not provided [RCV001637541] Chr22:25835630 [GRCh38]
Chr22:26231597 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2212-199G>T single nucleotide variant not provided [RCV001637700] Chr22:25781535 [GRCh38]
Chr22:26177502 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5632-235T>C single nucleotide variant not provided [RCV001653384] Chr22:25947477 [GRCh38]
Chr22:26343443 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2212-109dup duplication not provided [RCV001715309] Chr22:25781609..25781610 [GRCh38]
Chr22:26177576..26177577 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2787-39T>C single nucleotide variant not provided [RCV001654155] Chr22:25828737 [GRCh38]
Chr22:26224704 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6514T>C (p.Leu2172=) single nucleotide variant not provided [RCV001598406] Chr22:26026488 [GRCh38]
Chr22:26422454 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5971-273C>G single nucleotide variant not provided [RCV001654230] Chr22:25954906 [GRCh38]
Chr22:26350872 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.530C>T (p.Pro177Leu) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001779308]|not provided [RCV001678403] Chr22:25768446 [GRCh38]
Chr22:26164413 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5632-209C>G single nucleotide variant not provided [RCV001654273] Chr22:25947503 [GRCh38]
Chr22:26343469 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4435-85G>A single nucleotide variant not provided [RCV001715446] Chr22:25891219 [GRCh38]
Chr22:26287186 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2521+178T>G single nucleotide variant not provided [RCV001684442] Chr22:25798275 [GRCh38]
Chr22:26194242 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1513-270G>A single nucleotide variant not provided [RCV001636328] Chr22:25769840 [GRCh38]
Chr22:26165807 [GRCh37]
Chr22:22q12.1		 benign
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
NM_032608.7(MYO18B):c.5631+210C>G single nucleotide variant not provided [RCV001669856] Chr22:25946460 [GRCh38]
Chr22:26342426 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3357C>A (p.His1119Gln) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001779319]|not provided [RCV001695224] Chr22:25843883 [GRCh38]
Chr22:26239850 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2521+29G>A single nucleotide variant not provided [RCV001691016] Chr22:25798126 [GRCh38]
Chr22:26194093 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.199-258del deletion not provided [RCV001616683] Chr22:25767857 [GRCh38]
Chr22:26163824 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1513-66C>A single nucleotide variant not provided [RCV001541497] Chr22:25770044 [GRCh38]
Chr22:26166011 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2696-129T>C single nucleotide variant not provided [RCV001667906] Chr22:25826280 [GRCh38]
Chr22:26222247 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6157-25G>A single nucleotide variant not provided [RCV001695413] Chr22:25992338 [GRCh38]
Chr22:26388304 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3553-340_3553-339dup duplication not provided [RCV001691150] Chr22:25847078..25847079 [GRCh38]
Chr22:26243045..26243046 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3795G>A (p.Gly1265=) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001779326]|not provided [RCV001708490] Chr22:25851489 [GRCh38]
Chr22:26247456 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3061-296A>G single nucleotide variant not provided [RCV001708523] Chr22:25835000 [GRCh38]
Chr22:26230967 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3368+89A>G single nucleotide variant not provided [RCV001670512] Chr22:25843983 [GRCh38]
Chr22:26239950 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2774C>T (p.Ser925Leu) single nucleotide variant not provided [RCV001682046] Chr22:25826487 [GRCh38]
Chr22:26222454 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.131G>A (p.Gly44Glu) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001779280]|not provided [RCV001651407] Chr22:25763322 [GRCh38]
Chr22:26159289 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4081-185GT[20] microsatellite not provided [RCV001670440] Chr22:25876004..25876005 [GRCh38]
Chr22:26271971..26271972 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3885+61C>T single nucleotide variant not provided [RCV001652078] Chr22:25851640 [GRCh38]
Chr22:26247607 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5149-341C>T single nucleotide variant not provided [RCV001709363] Chr22:25907981 [GRCh38]
Chr22:26303948 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3552+271G>C single nucleotide variant not provided [RCV001681807] Chr22:25846554 [GRCh38]
Chr22:26242521 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6287+89A>G single nucleotide variant not provided [RCV001609138] Chr22:25992582 [GRCh38]
Chr22:26388548 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1692+163G>A single nucleotide variant not provided [RCV001670114] Chr22:25771147 [GRCh38]
Chr22:26167114 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3553-338T>G single nucleotide variant not provided [RCV001710534] Chr22:25847092 [GRCh38]
Chr22:26243059 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3531C>T (p.Cys1177=) single nucleotide variant not provided [RCV001662858] Chr22:25846262 [GRCh38]
Chr22:26242229 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1692+134T>C single nucleotide variant not provided [RCV001681116] Chr22:25771118 [GRCh38]
Chr22:26167085 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2521+127C>T single nucleotide variant not provided [RCV001681264] Chr22:25798224 [GRCh38]
Chr22:26194191 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4195A>G (p.Ile1399Val) single nucleotide variant not provided [RCV001652502] Chr22:25876303 [GRCh38]
Chr22:26272270 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4947+171T>C single nucleotide variant not provided [RCV001668732] Chr22:25902907 [GRCh38]
Chr22:26298874 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5632-85A>G single nucleotide variant not provided [RCV001668816] Chr22:25947627 [GRCh38]
Chr22:26343593 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2376+136T>C single nucleotide variant not provided [RCV001725401] Chr22:25785627 [GRCh38]
Chr22:26181594 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2786+39G>A single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001779275]|not provided [RCV001645406] Chr22:25826538 [GRCh38]
Chr22:26222505 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4225-90G>T single nucleotide variant not provided [RCV001612771] Chr22:25877869 [GRCh38]
Chr22:26273836 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.7184G>C (p.Gly2395Ala) single nucleotide variant not provided [RCV001649543] Chr22:26027158 [GRCh38]
Chr22:26423124 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3369-73T>C single nucleotide variant not provided [RCV001695755] Chr22:25846027 [GRCh38]
Chr22:26241994 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4225-92A>C single nucleotide variant not provided [RCV001681628] Chr22:25877867 [GRCh38]
Chr22:26273834 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4823+85A>G single nucleotide variant not provided [RCV001710124] Chr22:25898546 [GRCh38]
Chr22:26294513 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6671C>A (p.Ala2224Asp) single nucleotide variant Fraser syndrome 3 [RCV001251018]|not provided [RCV002570447] Chr22:26026645 [GRCh38]
Chr22:26422611 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5748+11A>G single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001779281]|not provided [RCV001641788] Chr22:25947839 [GRCh38]
Chr22:26343805 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4225-37C>T single nucleotide variant not provided [RCV001641620] Chr22:25877922 [GRCh38]
Chr22:26273889 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2377-96C>T single nucleotide variant not provided [RCV001642074] Chr22:25797857 [GRCh38]
Chr22:26193824 [GRCh37]
Chr22:22q12.1		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
NM_032608.7(MYO18B):c.3544C>G (p.Leu1182Val) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001335236]|not provided [RCV002546722] Chr22:25846275 [GRCh38]
Chr22:26242242 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1385_1386del (p.Glu462fs) microsatellite not provided [RCV002010743] Chr22:25769299..25769300 [GRCh38]
Chr22:26165266..26165267 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_032608.7(MYO18B):c.4461dup (p.Leu1488fs) duplication Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism [RCV001335237] Chr22:25891324..25891325 [GRCh38]
Chr22:26287291..26287292 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.5684G>A (p.Arg1895His) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001330159]|not provided [RCV001859274] Chr22:25947764 [GRCh38]
Chr22:26343730 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1157del (p.Gly386fs) deletion Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism [RCV001330154] Chr22:25769072 [GRCh38]
Chr22:26165039 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.2869A>G (p.Lys957Glu) single nucleotide variant MYO18B-related disorder [RCV003938622]|not provided [RCV001311594] Chr22:25828858 [GRCh38]
Chr22:26224825 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2212-112_2212-109dup duplication not provided [RCV001538773] Chr22:25781609..25781610 [GRCh38]
Chr22:26177576..26177577 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4139A>G (p.Lys1380Arg) single nucleotide variant not provided [RCV001357452] Chr22:25876247 [GRCh38]
Chr22:26272214 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1A>G (p.Met1Val) single nucleotide variant Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism [RCV001330155] Chr22:25761093 [GRCh38]
Chr22:26157060 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.3509C>T (p.Ala1170Val) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001330156]|not provided [RCV002546373] Chr22:25846240 [GRCh38]
Chr22:26242207 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3527C>T (p.Pro1176Leu) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001330157]|not provided [RCV001863216] Chr22:25846258 [GRCh38]
Chr22:26242225 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.362C>G (p.Thr121Arg) single nucleotide variant Inborn genetic diseases [RCV003294315]|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001330158]|not provided [RCV001859273] Chr22:25768278 [GRCh38]
Chr22:26164245 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.611C>T (p.Ala204Val) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001330160] Chr22:25768527 [GRCh38]
Chr22:26164494 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5239C>T (p.Arg1747Cys) single nucleotide variant Inborn genetic diseases [RCV004960802]|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001335238]|MYO18B-related disorder [RCV003399119]|not provided [RCV001865829] Chr22:25908412 [GRCh38]
Chr22:26304379 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1453del (p.Gln485fs) deletion not provided [RCV003850773] Chr22:25769368 [GRCh38]
Chr22:26165335 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.7151G>A (p.Arg2384Lys) single nucleotide variant not provided [RCV001358644] Chr22:26027125 [GRCh38]
Chr22:26423091 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4390C>T (p.Arg1464Trp) single nucleotide variant Inborn genetic diseases [RCV002564264]|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003130531]|not provided [RCV001508923] Chr22:25890831 [GRCh38]
Chr22:26286798 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1869+81A>G single nucleotide variant not provided [RCV001539432] Chr22:25772591 [GRCh38]
Chr22:26168558 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.198+287A>C single nucleotide variant not provided [RCV001540162] Chr22:25763676 [GRCh38]
Chr22:26159643 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6471-119G>C single nucleotide variant not provided [RCV001536500] Chr22:26026326 [GRCh38]
Chr22:26422292 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4588G>A (p.Glu1530Lys) single nucleotide variant Inborn genetic diseases [RCV003264049]|not provided [RCV001508924] Chr22:25895200 [GRCh38]
Chr22:26291167 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7420C>T (p.His2474Tyr) single nucleotide variant not provided [RCV001508927] Chr22:26027394 [GRCh38]
Chr22:26423360 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4081-185GT[19] microsatellite not provided [RCV001683786] Chr22:25876004..25876007 [GRCh38]
Chr22:26271971..26271974 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2439C>G (p.Leu813=) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001779288]|not provided [RCV001650628] Chr22:25798015 [GRCh38]
Chr22:26193982 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5854A>G (p.Ile1952Val) single nucleotide variant Inborn genetic diseases [RCV002568000]|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003130533]|not provided [RCV001508926] Chr22:25952307 [GRCh38]
Chr22:26348273 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4224+161A>T single nucleotide variant not provided [RCV001698717] Chr22:25876493 [GRCh38]
Chr22:26272460 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5364+220A>G single nucleotide variant not provided [RCV001651633] Chr22:25911270 [GRCh38]
Chr22:26307237 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2980-87A>G single nucleotide variant not provided [RCV001643486] Chr22:25832830 [GRCh38]
Chr22:26228797 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3552+239G>A single nucleotide variant not provided [RCV001693959] Chr22:25846522 [GRCh38]
Chr22:26242489 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5223G>A (p.Glu1741=) single nucleotide variant not provided [RCV001674552] Chr22:25908396 [GRCh38]
Chr22:26304363 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5749-225A>G single nucleotide variant not provided [RCV001686366] Chr22:25950142 [GRCh38]
Chr22:26346108 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2212-110_2212-109dup duplication not provided [RCV001609340] Chr22:25781609..25781610 [GRCh38]
Chr22:26177576..26177577 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2212-200T>C single nucleotide variant not provided [RCV001651663] Chr22:25781534 [GRCh38]
Chr22:26177501 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5832+24A>G single nucleotide variant not provided [RCV001654698] Chr22:25950474 [GRCh38]
Chr22:26346440 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3775+267dup duplication not provided [RCV001686656] Chr22:25847908..25847909 [GRCh38]
Chr22:26243875..26243876 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4081-185GT[17] microsatellite not provided [RCV001695996] Chr22:25876004..25876011 [GRCh38]
Chr22:26271971..26271978 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.199-3C>T single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001779282]|not provided [RCV001654136] Chr22:25768112 [GRCh38]
Chr22:26164079 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1512+119T>C single nucleotide variant not provided [RCV001609748] Chr22:25769547 [GRCh38]
Chr22:26165514 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1870-66G>A single nucleotide variant not provided [RCV001612010] Chr22:25777517 [GRCh38]
Chr22:26173484 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4315-161C>T single nucleotide variant not provided [RCV001652594] Chr22:25890595 [GRCh38]
Chr22:26286562 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4330T>A (p.Ser1444Thr) single nucleotide variant not provided [RCV001648280] Chr22:25890771 [GRCh38]
Chr22:26286738 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3369-139G>A single nucleotide variant not provided [RCV001716394] Chr22:25845961 [GRCh38]
Chr22:26241928 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5631+313C>T single nucleotide variant not provided [RCV001666165] Chr22:25946563 [GRCh38]
Chr22:26342529 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3208+278G>A single nucleotide variant not provided [RCV001612393] Chr22:25835721 [GRCh38]
Chr22:26231688 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1513-164G>C single nucleotide variant not provided [RCV001539889] Chr22:25769946 [GRCh38]
Chr22:26165913 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2461C>T (p.Arg821Trp) single nucleotide variant not provided [RCV001508922] Chr22:25798037 [GRCh38]
Chr22:26194004 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4766G>A (p.Cys1589Tyr) single nucleotide variant Inborn genetic diseases [RCV002564265]|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003130532]|not provided [RCV001508925] Chr22:25898404 [GRCh38]
Chr22:26294371 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.953G>C (p.Trp318Ser) single nucleotide variant not provided [RCV003107128] Chr22:25768869 [GRCh38]
Chr22:26164836 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1021C>G (p.Leu341Val) single nucleotide variant not provided [RCV003108682] Chr22:25768937 [GRCh38]
Chr22:26164904 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4544-10C>T single nucleotide variant not provided [RCV003108741] Chr22:25895146 [GRCh38]
Chr22:26291113 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4948-8C>G single nucleotide variant not provided [RCV003109055] Chr22:25903623 [GRCh38]
Chr22:26299590 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1938G>A (p.Ala646=) single nucleotide variant not provided [RCV003109064] Chr22:25777651 [GRCh38]
Chr22:26173618 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.868A>G (p.Thr290Ala) single nucleotide variant not provided [RCV003108936] Chr22:25768784 [GRCh38]
Chr22:26164751 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.9C>G (p.Ile3Met) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001779921]|not provided [RCV002074074] Chr22:25761101 [GRCh38]
Chr22:26157068 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4796del (p.Asn1599fs) deletion Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001782483]|not provided [RCV002544264] Chr22:25898432 [GRCh38]
Chr22:26294399 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_032608.7(MYO18B):c.7039C>T (p.Gln2347Ter) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001782480] Chr22:26027013 [GRCh38]
Chr22:26422979 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.3775+1G>C single nucleotide variant not provided [RCV001774015] Chr22:25847653 [GRCh38]
Chr22:26243620 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_032608.7(MYO18B):c.1195del (p.Gln399fs) deletion Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001784697] Chr22:25769108 [GRCh38]
Chr22:26165075 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.169C>T (p.Gln57Ter) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001782481]|not provided [RCV002544263] Chr22:25763360 [GRCh38]
Chr22:26159327 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_032608.7(MYO18B):c.3174_3175dup (p.Ala1059fs) microsatellite Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001782482] Chr22:25835404..25835405 [GRCh38]
Chr22:26231371..26231372 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.5206C>T (p.Arg1736Cys) single nucleotide variant not provided [RCV001764102] Chr22:25908379 [GRCh38]
Chr22:26304346 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.16C>T (p.Arg6Cys) single nucleotide variant not provided [RCV001773107] Chr22:25761108 [GRCh38]
Chr22:26157075 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3492del (p.Phe1164fs) deletion Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001775342] Chr22:25846221 [GRCh38]
Chr22:26242188 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.7702T>G (p.Ter2568Glu) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001775343] Chr22:26027676 [GRCh38]
Chr22:26423642 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.1157G>A (p.Gly386Asp) single nucleotide variant not provided [RCV001758479] Chr22:25769073 [GRCh38]
Chr22:26165040 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7373del (p.Ala2458fs) deletion Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV001814922] Chr22:26027347 [GRCh38]
Chr22:26423313 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.103G>T (p.Gly35Trp) single nucleotide variant not provided [RCV001814921] Chr22:25763294 [GRCh38]
Chr22:26159261 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7152G>T (p.Arg2384Ser) single nucleotide variant not provided [RCV001863699] Chr22:26027126 [GRCh38]
Chr22:26423092 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5306A>G (p.Gln1769Arg) single nucleotide variant not provided [RCV002008700] Chr22:25910992 [GRCh38]
Chr22:26306959 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3776-3T>A single nucleotide variant not provided [RCV001864263] Chr22:25851467 [GRCh38]
Chr22:26247434 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4322A>G (p.Asp1441Gly) single nucleotide variant Inborn genetic diseases [RCV004953228]|not provided [RCV001864414] Chr22:25890763 [GRCh38]
Chr22:26286730 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3751G>A (p.Glu1251Lys) single nucleotide variant not provided [RCV001892870] Chr22:25847628 [GRCh38]
Chr22:26243595 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6710C>T (p.Pro2237Leu) single nucleotide variant not provided [RCV001914463] Chr22:26026684 [GRCh38]
Chr22:26422650 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2528G>A (p.Arg843Gln) single nucleotide variant not provided [RCV001983258] Chr22:25823511 [GRCh38]
Chr22:26219478 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.637G>A (p.Ala213Thr) single nucleotide variant Inborn genetic diseases [RCV003348596]|not provided [RCV001896824] Chr22:25768553 [GRCh38]
Chr22:26164520 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1688A>G (p.His563Arg) single nucleotide variant not provided [RCV001988812] Chr22:25770980 [GRCh38]
Chr22:26166947 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2663G>A (p.Arg888Gln) single nucleotide variant not provided [RCV001895031] Chr22:25823646 [GRCh38]
Chr22:26219613 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.409C>T (p.Pro137Ser) single nucleotide variant not provided [RCV001988132] Chr22:25768325 [GRCh38]
Chr22:26164292 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2237T>G (p.Val746Gly) single nucleotide variant not provided [RCV001915376] Chr22:25781759 [GRCh38]
Chr22:26177726 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2739G>A (p.Ser913=) single nucleotide variant not provided [RCV001875071] Chr22:25826452 [GRCh38]
Chr22:26222419 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1512+6G>A single nucleotide variant MYO18B-related disorder [RCV003923383]|not provided [RCV001950662] Chr22:25769434 [GRCh38]
Chr22:26165401 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.3812G>A (p.Arg1271Gln) single nucleotide variant Inborn genetic diseases [RCV002551156]|not provided [RCV002021527] Chr22:25851506 [GRCh38]
Chr22:26247473 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5996G>A (p.Ser1999Asn) single nucleotide variant not provided [RCV001985739] Chr22:25955204 [GRCh38]
Chr22:26351170 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5674C>T (p.Leu1892Phe) single nucleotide variant not provided [RCV001987949] Chr22:25947754 [GRCh38]
Chr22:26343720 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7225C>A (p.Arg2409Ser) single nucleotide variant not provided [RCV001988319] Chr22:26027199 [GRCh38]
Chr22:26423165 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7603G>T (p.Gly2535Cys) single nucleotide variant not provided [RCV001929982] Chr22:26027577 [GRCh38]
Chr22:26423543 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2104G>T (p.Ala702Ser) single nucleotide variant not provided [RCV002004132] Chr22:25780091 [GRCh38]
Chr22:26176058 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_26388309)_(26388479_?)del deletion not provided [RCV001967952] Chr22:26388309..26388479 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.2979G>C (p.Glu993Asp) single nucleotide variant not provided [RCV001893974] Chr22:25828968 [GRCh38]
Chr22:26224935 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1679A>G (p.Glu560Gly) single nucleotide variant not provided [RCV001873843] Chr22:25770971 [GRCh38]
Chr22:26166938 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4277A>G (p.Asn1426Ser) single nucleotide variant not provided [RCV001929233] Chr22:25878011 [GRCh38]
Chr22:26273978 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7652G>T (p.Gly2551Val) single nucleotide variant MYO18B-related disorder [RCV004741158]|not provided [RCV001950587] Chr22:26027626 [GRCh38]
Chr22:26423592 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6296C>T (p.Thr2099Met) single nucleotide variant not provided [RCV001950746] Chr22:26003273 [GRCh38]
Chr22:26399239 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6760G>A (p.Val2254Met) single nucleotide variant not provided [RCV001971292] Chr22:26026734 [GRCh38]
Chr22:26422700 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.434A>G (p.Lys145Arg) single nucleotide variant not provided [RCV001988366] Chr22:25768350 [GRCh38]
Chr22:26164317 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.388G>C (p.Glu130Gln) single nucleotide variant Inborn genetic diseases [RCV002545781]|not provided [RCV001863671] Chr22:25768304 [GRCh38]
Chr22:26164271 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2474G>A (p.Arg825Gln) single nucleotide variant Inborn genetic diseases [RCV002563474]|not provided [RCV001987883] Chr22:25798050 [GRCh38]
Chr22:26194017 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2920C>T (p.Arg974Cys) single nucleotide variant not provided [RCV002023341] Chr22:25828909 [GRCh38]
Chr22:26224876 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1551G>A (p.Trp517Ter) single nucleotide variant not provided [RCV001895893] Chr22:25770148 [GRCh38]
Chr22:26166115 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.3503T>A (p.Leu1168His) single nucleotide variant not provided [RCV001986470] Chr22:25846234 [GRCh38]
Chr22:26242201 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3881G>A (p.Arg1294Lys) single nucleotide variant not provided [RCV002025106] Chr22:25851575 [GRCh38]
Chr22:26247542 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1915A>G (p.Met639Val) single nucleotide variant not provided [RCV001864060] Chr22:25777628 [GRCh38]
Chr22:26173595 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5030C>T (p.Ser1677Phe) single nucleotide variant not provided [RCV001971343] Chr22:25903713 [GRCh38]
Chr22:26299680 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4880G>A (p.Arg1627His) single nucleotide variant not provided [RCV002004710] Chr22:25902669 [GRCh38]
Chr22:26298636 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2189G>A (p.Arg730His) single nucleotide variant not provided [RCV002023679] Chr22:25780176 [GRCh38]
Chr22:26176143 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3369-6C>G single nucleotide variant not provided [RCV002025139] Chr22:25846094 [GRCh38]
Chr22:26242061 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.3463C>T (p.Gln1155Ter) single nucleotide variant not provided [RCV002025349] Chr22:25846194 [GRCh38]
Chr22:26242161 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.3811C>T (p.Arg1271Trp) single nucleotide variant not provided [RCV002009012] Chr22:25851505 [GRCh38]
Chr22:26247472 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2290G>A (p.Ala764Thr) single nucleotide variant not provided [RCV001950483] Chr22:25781812 [GRCh38]
Chr22:26177779 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4913G>T (p.Arg1638Leu) single nucleotide variant not provided [RCV002043632] Chr22:25902702 [GRCh38]
Chr22:26298669 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5215C>A (p.Gln1739Lys) single nucleotide variant Inborn genetic diseases [RCV002552881]|not provided [RCV001895604] Chr22:25908388 [GRCh38]
Chr22:26304355 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.442G>A (p.Val148Met) single nucleotide variant not provided [RCV001892760] Chr22:25768358 [GRCh38]
Chr22:26164325 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.82C>T (p.Pro28Ser) single nucleotide variant Inborn genetic diseases [RCV002573399]|not provided [RCV001971203] Chr22:25763273 [GRCh38]
Chr22:26159240 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6470+1G>A single nucleotide variant not provided [RCV001967189] Chr22:26004856 [GRCh38]
Chr22:26400822 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5049T>G (p.Val1683=) single nucleotide variant not provided [RCV001983179] Chr22:25903732 [GRCh38]
Chr22:26299699 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5725A>G (p.Lys1909Glu) single nucleotide variant not provided [RCV002039901] Chr22:25947805 [GRCh38]
Chr22:26343771 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7199G>A (p.Gly2400Glu) single nucleotide variant not provided [RCV001964867] Chr22:26027173 [GRCh38]
Chr22:26423139 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5365-1G>C single nucleotide variant not provided [RCV001891064] Chr22:25921256 [GRCh38]
Chr22:26317223 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_032608.7(MYO18B):c.2502_2503inv (p.Ala835Thr) inversion not provided [RCV001947608] Chr22:25798078..25798079 [GRCh38]
Chr22:26194045..26194046 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3148G>A (p.Asp1050Asn) single nucleotide variant not provided [RCV001909959] Chr22:25835383 [GRCh38]
Chr22:26231350 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3616C>T (p.Pro1206Ser) single nucleotide variant Inborn genetic diseases [RCV002555716]|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV002478356]|not provided [RCV001909833] Chr22:25847493 [GRCh38]
Chr22:26243460 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6434G>A (p.Arg2145Gln) single nucleotide variant not provided [RCV001926528]|not specified [RCV004801094] Chr22:26004819 [GRCh38]
Chr22:26400785 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.44G>A (p.Arg15Gln) single nucleotide variant not provided [RCV001947933] Chr22:25763235 [GRCh38]
Chr22:26159202 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.178G>C (p.Val60Leu) single nucleotide variant not provided [RCV001945173] Chr22:25763369 [GRCh38]
Chr22:26159336 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1924C>T (p.Arg642Trp) single nucleotide variant Inborn genetic diseases [RCV003167190]|not provided [RCV001947889] Chr22:25777637 [GRCh38]
Chr22:26173604 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3919G>A (p.Glu1307Lys) single nucleotide variant not provided [RCV002041433] Chr22:25868353 [GRCh38]
Chr22:26264320 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6650C>T (p.Ser2217Phe) single nucleotide variant not provided [RCV001912052] Chr22:26026624 [GRCh38]
Chr22:26422590 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2146C>T (p.Arg716Trp) single nucleotide variant not provided [RCV001985021]|not specified [RCV004699577] Chr22:25780133 [GRCh38]
Chr22:26176100 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3467G>A (p.Arg1156Lys) single nucleotide variant not provided [RCV001889225] Chr22:25846198 [GRCh38]
Chr22:26242165 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5148+3A>G single nucleotide variant not provided [RCV001945426] Chr22:25903834 [GRCh38]
Chr22:26299801 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1917G>C (p.Met639Ile) single nucleotide variant not provided [RCV002004181] Chr22:25777630 [GRCh38]
Chr22:26173597 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5197C>T (p.Gln1733Ter) single nucleotide variant MYO18B-related disorder [RCV003407901]|not provided [RCV001911010] Chr22:25908370 [GRCh38]
Chr22:26304337 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_032608.7(MYO18B):c.3056C>T (p.Ser1019Phe) single nucleotide variant not provided [RCV001968303] Chr22:25832993 [GRCh38]
Chr22:26228960 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1512+5G>A single nucleotide variant not provided [RCV001946205] Chr22:25769433 [GRCh38]
Chr22:26165400 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5618G>A (p.Arg1873Gln) single nucleotide variant Inborn genetic diseases [RCV002548864]|not provided [RCV002040922] Chr22:25946237 [GRCh38]
Chr22:26342203 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1258A>G (p.Lys420Glu) single nucleotide variant not provided [RCV001893510] Chr22:25769174 [GRCh38]
Chr22:26165141 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.478C>G (p.Leu160Val) single nucleotide variant not provided [RCV001910744] Chr22:25768394 [GRCh38]
Chr22:26164361 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.670C>G (p.Pro224Ala) single nucleotide variant not provided [RCV002042529] Chr22:25768586 [GRCh38]
Chr22:26164553 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5258G>A (p.Arg1753Gln) single nucleotide variant not provided [RCV002021226] Chr22:25908431 [GRCh38]
Chr22:26304398 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.772C>T (p.Pro258Ser) single nucleotide variant not provided [RCV001871343] Chr22:25768688 [GRCh38]
Chr22:26164655 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2125G>A (p.Ala709Thr) single nucleotide variant not provided [RCV001985696] Chr22:25780112 [GRCh38]
Chr22:26176079 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2859del (p.His954fs) deletion not provided [RCV001892594] Chr22:25828847 [GRCh38]
Chr22:26224814 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.5741T>C (p.Ile1914Thr) single nucleotide variant not provided [RCV002022677] Chr22:25947821 [GRCh38]
Chr22:26343787 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6436C>T (p.Gln2146Ter) single nucleotide variant not provided [RCV001909259] Chr22:26004821 [GRCh38]
Chr22:26400787 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.2768T>C (p.Val923Ala) single nucleotide variant not provided [RCV001891013] Chr22:25826481 [GRCh38]
Chr22:26222448 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3773C>T (p.Thr1258Ile) single nucleotide variant not provided [RCV001987182] Chr22:25847650 [GRCh38]
Chr22:26243617 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6849G>A (p.Thr2283=) single nucleotide variant not provided [RCV001863329] Chr22:26026823 [GRCh38]
Chr22:26422789 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2876G>T (p.Arg959Leu) single nucleotide variant not provided [RCV002007080] Chr22:25828865 [GRCh38]
Chr22:26224832 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6122G>A (p.Arg2041Gln) single nucleotide variant not provided [RCV001984834] Chr22:25955330 [GRCh38]
Chr22:26351296 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7543A>G (p.Ile2515Val) single nucleotide variant Inborn genetic diseases [RCV004046980]|not provided [RCV002043941] Chr22:26027517 [GRCh38]
Chr22:26423483 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5259+4C>T single nucleotide variant not provided [RCV001987568] Chr22:25908436 [GRCh38]
Chr22:26304403 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7190C>G (p.Pro2397Arg) single nucleotide variant not provided [RCV002003596] Chr22:26027164 [GRCh38]
Chr22:26423130 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7157G>T (p.Cys2386Phe) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV002266039]|not provided [RCV002040138] Chr22:26027131 [GRCh38]
Chr22:26423097 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.644A>G (p.Lys215Arg) single nucleotide variant not provided [RCV001911976] Chr22:25768560 [GRCh38]
Chr22:26164527 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6503C>T (p.Thr2168Ile) single nucleotide variant Inborn genetic diseases [RCV004641844]|not provided [RCV001968830] Chr22:26026477 [GRCh38]
Chr22:26422443 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4207C>A (p.Gln1403Lys) single nucleotide variant Inborn genetic diseases [RCV004955782]|not provided [RCV001913281] Chr22:25876315 [GRCh38]
Chr22:26272282 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4196T>C (p.Ile1399Thr) single nucleotide variant not provided [RCV001928212] Chr22:25876304 [GRCh38]
Chr22:26272271 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4274G>A (p.Arg1425Gln) single nucleotide variant MYO18B-related disorder [RCV004741178]|not provided [RCV002022308] Chr22:25878008 [GRCh38]
Chr22:26273975 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7081A>C (p.Met2361Leu) single nucleotide variant not provided [RCV001947894] Chr22:26027055 [GRCh38]
Chr22:26423021 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4730A>G (p.Lys1577Arg) single nucleotide variant not provided [RCV001891473] Chr22:25898368 [GRCh38]
Chr22:26294335 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6287+9C>G single nucleotide variant not provided [RCV002021874] Chr22:25992502 [GRCh38]
Chr22:26388468 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.7163A>G (p.Glu2388Gly) single nucleotide variant not provided [RCV001987577] Chr22:26027137 [GRCh38]
Chr22:26423103 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4246C>T (p.Arg1416Trp) single nucleotide variant not provided [RCV001983467] Chr22:25877980 [GRCh38]
Chr22:26273947 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6323G>A (p.Arg2108Gln) single nucleotide variant Inborn genetic diseases [RCV002553618]|not provided [RCV001911137] Chr22:26003300 [GRCh38]
Chr22:26399266 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4668+6A>G single nucleotide variant not provided [RCV002005415] Chr22:25895286 [GRCh38]
Chr22:26291253 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2665T>C (p.Trp889Arg) single nucleotide variant not provided [RCV001895064] Chr22:25823648 [GRCh38]
Chr22:26219615 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_26351125)_(26351350_?)del deletion not provided [RCV001969937] Chr22:26351125..26351350 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6773G>A (p.Arg2258Gln) single nucleotide variant Inborn genetic diseases [RCV002569279]|not provided [RCV001966518] Chr22:26026747 [GRCh38]
Chr22:26422713 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5221G>A (p.Glu1741Lys) single nucleotide variant not provided [RCV001889649] Chr22:25908394 [GRCh38]
Chr22:26304361 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5576C>T (p.Ala1859Val) single nucleotide variant Inborn genetic diseases [RCV004955979]|not provided [RCV002002267] Chr22:25946195 [GRCh38]
Chr22:26342161 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.31G>T (p.Glu11Ter) single nucleotide variant not provided [RCV002002343] Chr22:25761123 [GRCh38]
Chr22:26157090 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.5517+4G>T single nucleotide variant not provided [RCV001985402] Chr22:25921413 [GRCh38]
Chr22:26317380 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4109A>G (p.Gln1370Arg) single nucleotide variant not provided [RCV001893465] Chr22:25876217 [GRCh38]
Chr22:26272184 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7523C>T (p.Ser2508Leu) single nucleotide variant not provided [RCV001928610] Chr22:26027497 [GRCh38]
Chr22:26423463 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4224+4A>C single nucleotide variant not provided [RCV002002327] Chr22:25876336 [GRCh38]
Chr22:26272303 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6830C>T (p.Thr2277Ile) single nucleotide variant Inborn genetic diseases [RCV002562845]|not provided [RCV001969983] Chr22:26026804 [GRCh38]
Chr22:26422770 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6533G>A (p.Arg2178Gln) single nucleotide variant not provided [RCV001895111] Chr22:26026507 [GRCh38]
Chr22:26422473 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2786+6G>A single nucleotide variant not provided [RCV001908848] Chr22:25826505 [GRCh38]
Chr22:26222472 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2147G>A (p.Arg716Gln) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003134182]|not provided [RCV001889979] Chr22:25780134 [GRCh38]
Chr22:26176101 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.3320C>G (p.Pro1107Arg) single nucleotide variant not provided [RCV001945795] Chr22:25843846 [GRCh38]
Chr22:26239813 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6595C>T (p.Arg2199Trp) single nucleotide variant not provided [RCV002004531] Chr22:26026569 [GRCh38]
Chr22:26422535 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3790A>C (p.Met1264Leu) single nucleotide variant not provided [RCV001892512] Chr22:25851484 [GRCh38]
Chr22:26247451 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.22G>A (p.Ala8Thr) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003492684]|not provided [RCV001872320] Chr22:25761114 [GRCh38]
Chr22:26157081 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.629C>T (p.Ala210Val) single nucleotide variant not provided [RCV001965069] Chr22:25768545 [GRCh38]
Chr22:26164512 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1598A>G (p.Asp533Gly) single nucleotide variant not provided [RCV002039446] Chr22:25770890 [GRCh38]
Chr22:26166857 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6127G>A (p.Ala2043Thr) single nucleotide variant not provided [RCV002024211] Chr22:25955335 [GRCh38]
Chr22:26351301 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5158C>T (p.Arg1720Trp) single nucleotide variant not provided [RCV001927640] Chr22:25908331 [GRCh38]
Chr22:26304298 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3439G>A (p.Glu1147Lys) single nucleotide variant not provided [RCV002007729] Chr22:25846170 [GRCh38]
Chr22:26242137 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.338G>A (p.Arg113His) single nucleotide variant not provided [RCV002003060] Chr22:25768254 [GRCh38]
Chr22:26164221 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3968G>T (p.Gly1323Val) single nucleotide variant not provided [RCV001909104] Chr22:25874302 [GRCh38]
Chr22:26270269 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7007G>A (p.Gly2336Asp) single nucleotide variant not provided [RCV002039486] Chr22:26026981 [GRCh38]
Chr22:26422947 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5020G>A (p.Gly1674Arg) single nucleotide variant not provided [RCV001910843] Chr22:25903703 [GRCh38]
Chr22:26299670 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3854T>C (p.Met1285Thr) single nucleotide variant not provided [RCV001968606] Chr22:25851548 [GRCh38]
Chr22:26247515 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4696G>A (p.Gly1566Arg) single nucleotide variant Inborn genetic diseases [RCV004042214]|not provided [RCV001969348] Chr22:25898334 [GRCh38]
Chr22:26294301 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1981_1982inv (p.Trp661Gln) inversion not provided [RCV001863322] Chr22:25777694..25777695 [GRCh38]
Chr22:26173661..26173662 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2620C>T (p.His874Tyr) single nucleotide variant not provided [RCV002041236] Chr22:25823603 [GRCh38]
Chr22:26219570 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4113_4114delinsAT (p.Asn1372Tyr) indel not provided [RCV002003537] Chr22:25876221..25876222 [GRCh38]
Chr22:26272188..26272189 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7132C>T (p.Pro2378Ser) single nucleotide variant Inborn genetic diseases [RCV003167394]|not provided [RCV001946418] Chr22:26027106 [GRCh38]
Chr22:26423072 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3433G>A (p.Gly1145Ser) single nucleotide variant not provided [RCV001968678] Chr22:25846164 [GRCh38]
Chr22:26242131 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.859G>A (p.Ala287Thr) single nucleotide variant not provided [RCV001946000] Chr22:25768775 [GRCh38]
Chr22:26164742 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7261A>G (p.Ser2421Gly) single nucleotide variant not provided [RCV001871143] Chr22:26027235 [GRCh38]
Chr22:26423201 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4634C>A (p.Ser1545Ter) single nucleotide variant not provided [RCV001926336] Chr22:25895246 [GRCh38]
Chr22:26291213 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.5440G>A (p.Val1814Met) single nucleotide variant Inborn genetic diseases [RCV002608011]|not provided [RCV002003624] Chr22:25921332 [GRCh38]
Chr22:26317299 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5471G>A (p.Gly1824Asp) single nucleotide variant Inborn genetic diseases [RCV002571314]|not provided [RCV001966909] Chr22:25921363 [GRCh38]
Chr22:26317330 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2960C>T (p.Thr987Met) single nucleotide variant Inborn genetic diseases [RCV004641796]|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV004796683]|not provided [RCV001910676] Chr22:25828949 [GRCh38]
Chr22:26224916 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.404C>T (p.Ala135Val) single nucleotide variant Inborn genetic diseases [RCV002560702]|not provided [RCV001948483] Chr22:25768320 [GRCh38]
Chr22:26164287 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5970+3A>G single nucleotide variant not provided [RCV001908357] Chr22:25952426 [GRCh38]
Chr22:26348392 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2915A>G (p.His972Arg) single nucleotide variant not provided [RCV002003685] Chr22:25828904 [GRCh38]
Chr22:26224871 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6908T>C (p.Leu2303Pro) single nucleotide variant Inborn genetic diseases [RCV002560657]|not provided [RCV001967404] Chr22:26026882 [GRCh38]
Chr22:26422848 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2210A>G (p.Gln737Arg) single nucleotide variant not provided [RCV001947188] Chr22:25780197 [GRCh38]
Chr22:26176164 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1607C>G (p.Thr536Arg) single nucleotide variant not provided [RCV001986221] Chr22:25770899 [GRCh38]
Chr22:26166866 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1647T>A (p.Asp549Glu) single nucleotide variant not provided [RCV001945890] Chr22:25770939 [GRCh38]
Chr22:26166906 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3598C>T (p.His1200Tyr) single nucleotide variant not provided [RCV001983473] Chr22:25847475 [GRCh38]
Chr22:26243442 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_26399211)_(26400841_?)del deletion not provided [RCV001967951] Chr22:26399211..26400841 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4273C>T (p.Arg1425Trp) single nucleotide variant Inborn genetic diseases [RCV003303270]|not provided [RCV001912066] Chr22:25878007 [GRCh38]
Chr22:26273974 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.529C>A (p.Pro177Thr) single nucleotide variant MYO18B-related disorder [RCV004741144]|not provided [RCV001945506] Chr22:25768445 [GRCh38]
Chr22:26164412 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3485G>C (p.Arg1162Thr) single nucleotide variant Inborn genetic diseases [RCV004042770]|not provided [RCV001909405] Chr22:25846216 [GRCh38]
Chr22:26242183 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.547C>T (p.Pro183Ser) single nucleotide variant not provided [RCV002000294] Chr22:25768463 [GRCh38]
Chr22:26164430 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5213A>T (p.Asp1738Val) single nucleotide variant Inborn genetic diseases [RCV004953159]|not provided [RCV001887637] Chr22:25908386 [GRCh38]
Chr22:26304353 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4669-5T>C single nucleotide variant not provided [RCV001963259] Chr22:25898302 [GRCh38]
Chr22:26294269 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1283C>T (p.Ser428Leu) single nucleotide variant not provided [RCV002046685] Chr22:25769199 [GRCh38]
Chr22:26165166 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4120G>A (p.Ala1374Thr) single nucleotide variant not provided [RCV001920360] Chr22:25876228 [GRCh38]
Chr22:26272195 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1244G>T (p.Gly415Val) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV002486522]|not provided [RCV002038084] Chr22:25769160 [GRCh38]
Chr22:26165127 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3212C>T (p.Ser1071Phe) single nucleotide variant not provided [RCV001999290] Chr22:25843738 [GRCh38]
Chr22:26239705 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5983C>T (p.Arg1995Trp) single nucleotide variant Inborn genetic diseases [RCV003170142]|not provided [RCV001989725] Chr22:25955191 [GRCh38]
Chr22:26351157 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4932_4943del (p.Gln1645_Leu1648del) deletion not provided [RCV001995206] Chr22:25902716..25902727 [GRCh38]
Chr22:26298683..26298694 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.650G>C (p.Arg217Pro) single nucleotide variant Inborn genetic diseases [RCV004043257]|not provided [RCV002038125] Chr22:25768566 [GRCh38]
Chr22:26164533 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3031G>A (p.Val1011Met) single nucleotide variant not provided [RCV001931133] Chr22:25832968 [GRCh38]
Chr22:26228935 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7594C>T (p.Arg2532Ter) single nucleotide variant not provided [RCV001932462] Chr22:26027568 [GRCh38]
Chr22:26423534 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.5971-2A>G single nucleotide variant not provided [RCV001920568] Chr22:25955177 [GRCh38]
Chr22:26351143 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_032608.7(MYO18B):c.3281T>C (p.Val1094Ala) single nucleotide variant not provided [RCV001922165] Chr22:25843807 [GRCh38]
Chr22:26239774 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.20T>G (p.Leu7Arg) single nucleotide variant Inborn genetic diseases [RCV002563507]|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV005025496]|not provided [RCV001979994] Chr22:25761112 [GRCh38]
Chr22:26157079 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4348C>T (p.Arg1450Cys) single nucleotide variant MYO18B-related disorder [RCV004741147]|not provided [RCV001923866] Chr22:25890789 [GRCh38]
Chr22:26286756 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5009G>A (p.Arg1670Gln) single nucleotide variant Inborn genetic diseases [RCV004043851]|not provided [RCV001980053] Chr22:25903692 [GRCh38]
Chr22:26299659 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.2165C>T (p.Ser722Leu) single nucleotide variant Inborn genetic diseases [RCV002550422]|not provided [RCV002018337] Chr22:25780152 [GRCh38]
Chr22:26176119 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1937C>T (p.Ala646Val) single nucleotide variant not provided [RCV001981745] Chr22:25777650 [GRCh38]
Chr22:26173617 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2563G>A (p.Ala855Thr) single nucleotide variant Inborn genetic diseases [RCV003264152]|not provided [RCV001961947] Chr22:25823546 [GRCh38]
Chr22:26219513 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1748A>G (p.Asn583Ser) single nucleotide variant not provided [RCV001999593] Chr22:25772389 [GRCh38]
Chr22:26168356 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6948C>T (p.Ala2316=) single nucleotide variant not provided [RCV002031088] Chr22:26026922 [GRCh38]
Chr22:26422888 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5759A>G (p.Asp1920Gly) single nucleotide variant not provided [RCV002017890] Chr22:25950377 [GRCh38]
Chr22:26346343 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7177G>A (p.Asp2393Asn) single nucleotide variant not provided [RCV001980284] Chr22:26027151 [GRCh38]
Chr22:26423117 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7487C>T (p.Pro2496Leu) single nucleotide variant not provided [RCV001886818] Chr22:26027461 [GRCh38]
Chr22:26423427 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6757T>G (p.Phe2253Val) single nucleotide variant not provided [RCV002038612] Chr22:26026731 [GRCh38]
Chr22:26422697 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4225-10G>C single nucleotide variant not provided [RCV002184899] Chr22:25877949 [GRCh38]
Chr22:26273916 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4217C>G (p.Ala1406Gly) single nucleotide variant not provided [RCV002020298] Chr22:25876325 [GRCh38]
Chr22:26272292 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.439G>A (p.Gly147Ser) single nucleotide variant not provided [RCV001961816] Chr22:25768355 [GRCh38]
Chr22:26164322 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7225C>T (p.Arg2409Cys) single nucleotide variant not provided [RCV002027275] Chr22:26027199 [GRCh38]
Chr22:26423165 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3184G>C (p.Glu1062Gln) single nucleotide variant not provided [RCV002017970] Chr22:25835419 [GRCh38]
Chr22:26231386 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3412C>T (p.Pro1138Ser) single nucleotide variant not provided [RCV001886615] Chr22:25846143 [GRCh38]
Chr22:26242110 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1971G>T (p.Val657=) single nucleotide variant not provided [RCV001962901] Chr22:25777684 [GRCh38]
Chr22:26173651 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3999G>T (p.Glu1333Asp) single nucleotide variant not provided [RCV001944357] Chr22:25874333 [GRCh38]
Chr22:26270300 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4913G>A (p.Arg1638Gln) single nucleotide variant Inborn genetic diseases [RCV004953161]|not provided [RCV001866300] Chr22:25902702 [GRCh38]
Chr22:26298669 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.337C>T (p.Arg113Cys) single nucleotide variant Inborn genetic diseases [RCV002556421]|not provided [RCV001935543] Chr22:25768253 [GRCh38]
Chr22:26164220 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.17G>A (p.Arg6His) single nucleotide variant Inborn genetic diseases [RCV004956063]|not provided [RCV001995854] Chr22:25761109 [GRCh38]
Chr22:26157076 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2365G>A (p.Val789Met) single nucleotide variant Inborn genetic diseases [RCV004956193]|not provided [RCV002036451] Chr22:25785480 [GRCh38]
Chr22:26181447 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5957T>G (p.Ile1986Ser) single nucleotide variant not provided [RCV001958456] Chr22:25952410 [GRCh38]
Chr22:26348376 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3019C>G (p.Pro1007Ala) single nucleotide variant not provided [RCV002036916] Chr22:25832956 [GRCh38]
Chr22:26228923 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.714A>C (p.Gln238His) single nucleotide variant Inborn genetic diseases [RCV002592611]|not provided [RCV001980664] Chr22:25768630 [GRCh38]
Chr22:26164597 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.530del (p.Pro177fs) deletion MYO18B-related disorder [RCV003418347]|not provided [RCV002038647] Chr22:25768440 [GRCh38]
Chr22:26164407 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_032608.7(MYO18B):c.3977C>A (p.Ser1326Tyr) single nucleotide variant Inborn genetic diseases [RCV003264140]|not provided [RCV001904680] Chr22:25874311 [GRCh38]
Chr22:26270278 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5617C>T (p.Arg1873Trp) single nucleotide variant Inborn genetic diseases [RCV002547983]|not provided [RCV001864835] Chr22:25946236 [GRCh38]
Chr22:26342202 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_26157060)_(26157118_?)del deletion not provided [RCV001931725] Chr22:26157060..26157118 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.3223C>T (p.Arg1075Trp) single nucleotide variant Inborn genetic diseases [RCV004041408]|not provided [RCV001905887] Chr22:25843749 [GRCh38]
Chr22:26239716 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1058C>G (p.Thr353Ser) single nucleotide variant not provided [RCV001887433] Chr22:25768974 [GRCh38]
Chr22:26164941 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.194G>A (p.Arg65Gln) single nucleotide variant not provided [RCV001961955] Chr22:25763385 [GRCh38]
Chr22:26159352 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5153G>A (p.Arg1718His) single nucleotide variant not provided [RCV001897195] Chr22:25908326 [GRCh38]
Chr22:26304293 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1063A>G (p.Met355Val) single nucleotide variant not provided [RCV001996227] Chr22:25768979 [GRCh38]
Chr22:26164946 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1252G>A (p.Ala418Thr) single nucleotide variant not provided [RCV001905993] Chr22:25769168 [GRCh38]
Chr22:26165135 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3779A>G (p.Tyr1260Cys) single nucleotide variant not provided [RCV001943429] Chr22:25851473 [GRCh38]
Chr22:26247440 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1900G>A (p.Ala634Thr) single nucleotide variant not provided [RCV001906691] Chr22:25777613 [GRCh38]
Chr22:26173580 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6772C>T (p.Arg2258Trp) single nucleotide variant not provided [RCV001962053] Chr22:26026746 [GRCh38]
Chr22:26422712 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3989A>C (p.Lys1330Thr) single nucleotide variant not provided [RCV001886865] Chr22:25874323 [GRCh38]
Chr22:26270290 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1781G>A (p.Arg594His) single nucleotide variant not provided [RCV001878183] Chr22:25772422 [GRCh38]
Chr22:26168389 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3120T>G (p.Asp1040Glu) single nucleotide variant not provided [RCV001977580] Chr22:25835355 [GRCh38]
Chr22:26231322 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.62C>T (p.Pro21Leu) single nucleotide variant not provided [RCV001999516] Chr22:25763253 [GRCh38]
Chr22:26159220 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5794G>A (p.Glu1932Lys) single nucleotide variant not provided [RCV001962163] Chr22:25950412 [GRCh38]
Chr22:26346378 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1925G>A (p.Arg642Gln) single nucleotide variant not provided [RCV002035904] Chr22:25777638 [GRCh38]
Chr22:26173605 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5533G>A (p.Ala1845Thr) single nucleotide variant not provided [RCV001981616] Chr22:25946152 [GRCh38]
Chr22:26342118 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.699del (p.Gly234fs) deletion not provided [RCV002037294] Chr22:25768610 [GRCh38]
Chr22:26164577 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4468G>A (p.Asp1490Asn) single nucleotide variant not provided [RCV001886960] Chr22:25891337 [GRCh38]
Chr22:26287304 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4057C>T (p.Arg1353Cys) single nucleotide variant Inborn genetic diseases [RCV002554132]|not provided [RCV001887017] Chr22:25874391 [GRCh38]
Chr22:26270358 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6698C>T (p.Thr2233Ile) single nucleotide variant not provided [RCV002050310] Chr22:26026672 [GRCh38]
Chr22:26422638 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4216G>A (p.Ala1406Thr) single nucleotide variant not provided [RCV001961674] Chr22:25876324 [GRCh38]
Chr22:26272291 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2080C>T (p.Arg694Ter) single nucleotide variant not provided [RCV001886485] Chr22:25780067 [GRCh38]
Chr22:26176034 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.6832C>A (p.Leu2278Ile) single nucleotide variant Inborn genetic diseases [RCV003355656]|not provided [RCV001943529] Chr22:26026806 [GRCh38]
Chr22:26422772 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.455A>G (p.Asp152Gly) single nucleotide variant not provided [RCV001883860] Chr22:25768371 [GRCh38]
Chr22:26164338 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1113G>C (p.Met371Ile) single nucleotide variant not provided [RCV001907029] Chr22:25769029 [GRCh38]
Chr22:26164996 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5075A>G (p.Lys1692Arg) single nucleotide variant not provided [RCV002031930] Chr22:25903758 [GRCh38]
Chr22:26299725 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2200G>T (p.Ala734Ser) single nucleotide variant not provided [RCV001887079] Chr22:25780187 [GRCh38]
Chr22:26176154 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3208+3A>G single nucleotide variant not provided [RCV001897603] Chr22:25835446 [GRCh38]
Chr22:26231413 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1841G>A (p.Arg614Gln) single nucleotide variant not provided [RCV001901545] Chr22:25772482 [GRCh38]
Chr22:26168449 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2521+4C>T single nucleotide variant not provided [RCV001921797] Chr22:25798101 [GRCh38]
Chr22:26194068 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2932C>A (p.Leu978Met) single nucleotide variant Inborn genetic diseases [RCV002560466]|not provided [RCV001921799] Chr22:25828921 [GRCh38]
Chr22:26224888 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7024G>A (p.Glu2342Lys) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003492711]|not provided [RCV001981454] Chr22:26026998 [GRCh38]
Chr22:26422964 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2555C>T (p.Ala852Val) single nucleotide variant not provided [RCV001887148] Chr22:25823538 [GRCh38]
Chr22:26219505 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3790A>G (p.Met1264Val) single nucleotide variant not provided [RCV001999042] Chr22:25851484 [GRCh38]
Chr22:26247451 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5207G>A (p.Arg1736His) single nucleotide variant Inborn genetic diseases [RCV003348587]|not provided [RCV001887266] Chr22:25908380 [GRCh38]
Chr22:26304347 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4768G>A (p.Val1590Ile) single nucleotide variant Inborn genetic diseases [RCV002548081]|not provided [RCV001934872] Chr22:25898406 [GRCh38]
Chr22:26294373 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1693-3C>T single nucleotide variant not provided [RCV002051368] Chr22:25772331 [GRCh38]
Chr22:26168298 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3623T>C (p.Val1208Ala) single nucleotide variant not provided [RCV001921677] Chr22:25847500 [GRCh38]
Chr22:26243467 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7153C>T (p.Arg2385Trp) single nucleotide variant not provided [RCV001956915] Chr22:26027127 [GRCh38]
Chr22:26423093 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2313-2A>C single nucleotide variant not provided [RCV001901541] Chr22:25785426 [GRCh38]
Chr22:26181393 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_032608.7(MYO18B):c.527C>T (p.Pro176Leu) single nucleotide variant Inborn genetic diseases [RCV002552108]|not provided [RCV001900334] Chr22:25768443 [GRCh38]
Chr22:26164410 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6478G>A (p.Glu2160Lys) single nucleotide variant not provided [RCV001955506] Chr22:26026452 [GRCh38]
Chr22:26422418 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7634G>A (p.Arg2545Gln) single nucleotide variant Inborn genetic diseases [RCV002545714]|not provided [RCV002049393] Chr22:26027608 [GRCh38]
Chr22:26423574 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7288A>G (p.Ser2430Gly) single nucleotide variant not provided [RCV001958188] Chr22:26027262 [GRCh38]
Chr22:26423228 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5683C>T (p.Arg1895Cys) single nucleotide variant Inborn genetic diseases [RCV003167089]|not provided [RCV001901735] Chr22:25947763 [GRCh38]
Chr22:26343729 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3786C>A (p.Asp1262Glu) single nucleotide variant not provided [RCV002011733] Chr22:25851480 [GRCh38]
Chr22:26247447 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5257C>T (p.Arg1753Trp) single nucleotide variant not provided [RCV001935761] Chr22:25908430 [GRCh38]
Chr22:26304397 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2980G>A (p.Glu994Lys) single nucleotide variant not provided [RCV002016920] Chr22:25832917 [GRCh38]
Chr22:26228884 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3929C>T (p.Ala1310Val) single nucleotide variant not provided [RCV001979271] Chr22:25868363 [GRCh38]
Chr22:26264330 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2330A>G (p.His777Arg) single nucleotide variant not provided [RCV002010415] Chr22:25785445 [GRCh38]
Chr22:26181412 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2944C>T (p.Arg982Trp) single nucleotide variant Inborn genetic diseases [RCV002545633]|not provided [RCV002050568] Chr22:25828933 [GRCh38]
Chr22:26224900 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.925G>A (p.Val309Ile) single nucleotide variant Inborn genetic diseases [RCV004044405]|not provided [RCV001951710] Chr22:25768841 [GRCh38]
Chr22:26164808 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1209G>A (p.Gly403=) single nucleotide variant not provided [RCV001972720] Chr22:25769125 [GRCh38]
Chr22:26165092 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5390A>T (p.Glu1797Val) single nucleotide variant not provided [RCV001993696] Chr22:25921282 [GRCh38]
Chr22:26317249 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1951C>T (p.Arg651Trp) single nucleotide variant not provided [RCV002029681] Chr22:25777664 [GRCh38]
Chr22:26173631 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6926C>G (p.Ser2309Ter) single nucleotide variant not provided [RCV001922983] Chr22:26026900 [GRCh38]
Chr22:26422866 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.4318G>A (p.Ala1440Thr) single nucleotide variant Inborn genetic diseases [RCV004043591]|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003492700]|not provided [RCV001951876] Chr22:25890759 [GRCh38]
Chr22:26286726 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2762C>T (p.Ala921Val) single nucleotide variant not provided [RCV001989912] Chr22:25826475 [GRCh38]
Chr22:26222442 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6695G>A (p.Ser2232Asn) single nucleotide variant Inborn genetic diseases [RCV002625407]|not provided [RCV001992298] Chr22:26026669 [GRCh38]
Chr22:26422635 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.128G>A (p.Arg43Gln) single nucleotide variant not provided [RCV002050703] Chr22:25763319 [GRCh38]
Chr22:26159286 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3019_3027del (p.Pro1007_Thr1009del) deletion not provided [RCV002011750] Chr22:25832954..25832962 [GRCh38]
Chr22:26228921..26228929 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5396G>A (p.Arg1799Gln) single nucleotide variant Inborn genetic diseases [RCV003365593]|not provided [RCV001992418] Chr22:25921288 [GRCh38]
Chr22:26317255 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1646A>T (p.Asp549Val) single nucleotide variant not provided [RCV001898051] Chr22:25770938 [GRCh38]
Chr22:26166905 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2837C>T (p.Ser946Phe) single nucleotide variant not provided [RCV002047086] Chr22:25828826 [GRCh38]
Chr22:26224793 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6052_6053delinsGA (p.Arg2018Glu) indel not provided [RCV002048322] Chr22:25955260..25955261 [GRCh38]
Chr22:26351226..26351227 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2120C>T (p.Ser707Phe) single nucleotide variant not provided [RCV002048331] Chr22:25780107 [GRCh38]
Chr22:26176074 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6949G>A (p.Ala2317Thr) single nucleotide variant not provided [RCV002015081] Chr22:26026923 [GRCh38]
Chr22:26422889 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4342G>A (p.Asp1448Asn) single nucleotide variant not provided [RCV001955759] Chr22:25890783 [GRCh38]
Chr22:26286750 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3550A>T (p.Met1184Leu) single nucleotide variant not provided [RCV002011926] Chr22:25846281 [GRCh38]
Chr22:26242248 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7544T>A (p.Ile2515Asn) single nucleotide variant not provided [RCV001932715] Chr22:26027518 [GRCh38]
Chr22:26423484 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.346G>A (p.Asp116Asn) single nucleotide variant not provided [RCV002051534] Chr22:25768262 [GRCh38]
Chr22:26164229 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1769C>T (p.Thr590Met) single nucleotide variant not provided [RCV001922549] Chr22:25772410 [GRCh38]
Chr22:26168377 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3995G>A (p.Arg1332Gln) single nucleotide variant not provided [RCV001882981] Chr22:25874329 [GRCh38]
Chr22:26270296 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6940G>A (p.Glu2314Lys) single nucleotide variant not provided [RCV002047216] Chr22:26026914 [GRCh38]
Chr22:26422880 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6806C>T (p.Thr2269Met) single nucleotide variant Inborn genetic diseases [RCV004044097]|not provided [RCV001916810] Chr22:26026780 [GRCh38]
Chr22:26422746 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4415G>A (p.Arg1472Gln) single nucleotide variant not provided [RCV002010757] Chr22:25890856 [GRCh38]
Chr22:26286823 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4080+1G>T single nucleotide variant not provided [RCV001934021] Chr22:25874415 [GRCh38]
Chr22:26270382 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_032608.7(MYO18B):c.6196C>G (p.Leu2066Val) single nucleotide variant not provided [RCV001935914] Chr22:25992402 [GRCh38]
Chr22:26388368 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2068+6G>A single nucleotide variant not provided [RCV001897031] Chr22:25777787 [GRCh38]
Chr22:26173754 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7090A>G (p.Lys2364Glu) single nucleotide variant Inborn genetic diseases [RCV002550986]|MYO18B-related disorder [RCV004741110]|not provided [RCV001930161] Chr22:26027064 [GRCh38]
Chr22:26423030 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6149T>C (p.Met2050Thr) single nucleotide variant not provided [RCV001988919] Chr22:25955357 [GRCh38]
Chr22:26351323 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.112A>G (p.Ile38Val) single nucleotide variant Inborn genetic diseases [RCV003289147]|not provided [RCV001867771] Chr22:25763303 [GRCh38]
Chr22:26159270 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5818A>G (p.Lys1940Glu) single nucleotide variant Inborn genetic diseases [RCV004955995]|not provided [RCV001992958] Chr22:25950436 [GRCh38]
Chr22:26346402 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5885G>A (p.Arg1962Gln) single nucleotide variant not provided [RCV001881826] Chr22:25952338 [GRCh38]
Chr22:26348304 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6752C>A (p.Ser2251Ter) single nucleotide variant not provided [RCV001879231] Chr22:26026726 [GRCh38]
Chr22:26422692 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.4080+2T>C single nucleotide variant not provided [RCV002026186] Chr22:25874416 [GRCh38]
Chr22:26270383 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_032608.7(MYO18B):c.2752G>A (p.Glu918Lys) single nucleotide variant Inborn genetic diseases [RCV002557596]|not provided [RCV001915773] Chr22:25826465 [GRCh38]
Chr22:26222432 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7429A>G (p.Thr2477Ala) single nucleotide variant Inborn genetic diseases [RCV004641879]|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003492722]|not provided [RCV002011063] Chr22:26027403 [GRCh38]
Chr22:26423369 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1409C>T (p.Ala470Val) single nucleotide variant Inborn genetic diseases [RCV004040484]|not provided [RCV001876864] Chr22:25769325 [GRCh38]
Chr22:26165292 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6625G>A (p.Glu2209Lys) single nucleotide variant not provided [RCV001954900] Chr22:26026599 [GRCh38]
Chr22:26422565 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6139C>T (p.Arg2047Trp) single nucleotide variant not provided [RCV001989149] Chr22:25955347 [GRCh38]
Chr22:26351313 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6455G>A (p.Arg2152His) single nucleotide variant not provided [RCV001899943] Chr22:26004840 [GRCh38]
Chr22:26400806 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2583C>A (p.Cys861Ter) single nucleotide variant not provided [RCV002029003] Chr22:25823566 [GRCh38]
Chr22:26219533 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.3937G>A (p.Val1313Met) single nucleotide variant not provided [RCV001934547] Chr22:25868371 [GRCh38]
Chr22:26264338 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3148G>T (p.Asp1050Tyr) single nucleotide variant not provided [RCV002015298] Chr22:25835383 [GRCh38]
Chr22:26231350 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1643T>A (p.Ile548Asn) single nucleotide variant not provided [RCV001875434] Chr22:25770935 [GRCh38]
Chr22:26166902 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.198+1G>T single nucleotide variant not provided [RCV001934370] Chr22:25763390 [GRCh38]
Chr22:26159357 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_032608.7(MYO18B):c.3031G>T (p.Val1011Leu) single nucleotide variant Inborn genetic diseases [RCV002560688]|not provided [RCV001952505] Chr22:25832968 [GRCh38]
Chr22:26228935 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.582G>T (p.Glu194Asp) single nucleotide variant not provided [RCV001955261] Chr22:25768498 [GRCh38]
Chr22:26164465 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7300G>A (p.Glu2434Lys) single nucleotide variant not provided [RCV002015937] Chr22:26027274 [GRCh38]
Chr22:26423240 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6679C>G (p.Pro2227Ala) single nucleotide variant not provided [RCV002016610] Chr22:26026653 [GRCh38]
Chr22:26422619 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7649C>T (p.Thr2550Met) single nucleotide variant not provided [RCV001952579] Chr22:26027623 [GRCh38]
Chr22:26423589 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2177A>G (p.Asn726Ser) single nucleotide variant not provided [RCV002050147] Chr22:25780164 [GRCh38]
Chr22:26176131 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7363A>G (p.Thr2455Ala) single nucleotide variant not provided [RCV001952708] Chr22:26027337 [GRCh38]
Chr22:26423303 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4021G>A (p.Val1341Ile) single nucleotide variant not provided [RCV001901522] Chr22:25874355 [GRCh38]
Chr22:26270322 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2434A>T (p.Met812Leu) single nucleotide variant not provided [RCV001937406] Chr22:25798010 [GRCh38]
Chr22:26193977 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2006G>A (p.Cys669Tyr) single nucleotide variant not provided [RCV001978996] Chr22:25777719 [GRCh38]
Chr22:26173686 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7601C>T (p.Ala2534Val) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003492727]|not provided [RCV002027831] Chr22:26027575 [GRCh38]
Chr22:26423541 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.977G>A (p.Ser326Asn) single nucleotide variant not provided [RCV001917497] Chr22:25768893 [GRCh38]
Chr22:26164860 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6856G>T (p.Ala2286Ser) single nucleotide variant not provided [RCV001918699] Chr22:26026830 [GRCh38]
Chr22:26422796 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.866C>A (p.Pro289His) single nucleotide variant not provided [RCV002030586] Chr22:25768782 [GRCh38]
Chr22:26164749 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5008C>T (p.Arg1670Trp) single nucleotide variant not provided [RCV001957468] Chr22:25903691 [GRCh38]
Chr22:26299658 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7409G>A (p.Arg2470His) single nucleotide variant MYO18B-related disorder [RCV004741106]|not provided [RCV001932107] Chr22:26027383 [GRCh38]
Chr22:26423349 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3548A>C (p.Gln1183Pro) single nucleotide variant not provided [RCV001930735] Chr22:25846279 [GRCh38]
Chr22:26242246 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2921G>A (p.Arg974His) single nucleotide variant not provided [RCV001916262] Chr22:25828910 [GRCh38]
Chr22:26224877 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6034A>G (p.Thr2012Ala) single nucleotide variant Inborn genetic diseases [RCV003355659]|not provided [RCV001921657] Chr22:25955242 [GRCh38]
Chr22:26351208 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.3582C>T (p.Ser1194=) single nucleotide variant not provided [RCV001951512] Chr22:25847459 [GRCh38]
Chr22:26243426 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1469C>T (p.Pro490Leu) single nucleotide variant Inborn genetic diseases [RCV002657730]|not provided [RCV002047985] Chr22:25769385 [GRCh38]
Chr22:26165352 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.563G>A (p.Gly188Glu) single nucleotide variant not provided [RCV001904533] Chr22:25768479 [GRCh38]
Chr22:26164446 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4132G>A (p.Ala1378Thr) single nucleotide variant Inborn genetic diseases [RCV002560490]|not provided [RCV001924425] Chr22:25876240 [GRCh38]
Chr22:26272207 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1720G>A (p.Glu574Lys) single nucleotide variant not provided [RCV002011609] Chr22:25772361 [GRCh38]
Chr22:26168328 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.427C>T (p.Pro143Ser) single nucleotide variant not provided [RCV001920370] Chr22:25768343 [GRCh38]
Chr22:26164310 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5558C>T (p.Thr1853Met) single nucleotide variant Inborn genetic diseases [RCV004953277]|not provided [RCV001897728] Chr22:25946177 [GRCh38]
Chr22:26342143 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4912C>T (p.Arg1638Trp) single nucleotide variant not provided [RCV001878693] Chr22:25902701 [GRCh38]
Chr22:26298668 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3241del (p.Leu1081fs) deletion not provided [RCV002018174] Chr22:25843764 [GRCh38]
Chr22:26239731 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.6143G>A (p.Arg2048Gln) single nucleotide variant not provided [RCV002018191] Chr22:25955351 [GRCh38]
Chr22:26351317 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1145C>T (p.Thr382Ile) single nucleotide variant not provided [RCV001998160] Chr22:25769061 [GRCh38]
Chr22:26165028 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1142C>A (p.Thr381Lys) single nucleotide variant not provided [RCV001867182] Chr22:25769058 [GRCh38]
Chr22:26165025 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2243_2245dup (p.Arg748dup) duplication not provided [RCV002049321] Chr22:25781763..25781764 [GRCh38]
Chr22:26177730..26177731 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1322G>A (p.Arg441His) single nucleotide variant Inborn genetic diseases [RCV002552292]|not provided [RCV001883787] Chr22:25769238 [GRCh38]
Chr22:26165205 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1076G>A (p.Ser359Asn) single nucleotide variant not provided [RCV002012973] Chr22:25768992 [GRCh38]
Chr22:26164959 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2893G>A (p.Glu965Lys) single nucleotide variant Inborn genetic diseases [RCV002560518]|not provided [RCV001931205] Chr22:25828882 [GRCh38]
Chr22:26224849 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1352G>A (p.Arg451Lys) single nucleotide variant not provided [RCV002048147] Chr22:25769268 [GRCh38]
Chr22:26165235 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3224G>A (p.Arg1075Gln) single nucleotide variant not provided [RCV001955794] Chr22:25843750 [GRCh38]
Chr22:26239717 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.617C>T (p.Thr206Ile) single nucleotide variant not provided [RCV001936050] Chr22:25768533 [GRCh38]
Chr22:26164500 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6934G>A (p.Glu2312Lys) single nucleotide variant not provided [RCV001936059] Chr22:26026908 [GRCh38]
Chr22:26422874 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1441C>T (p.Arg481Trp) single nucleotide variant not provided [RCV001981785] Chr22:25769357 [GRCh38]
Chr22:26165324 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4639C>G (p.Leu1547Val) single nucleotide variant not provided [RCV002049436] Chr22:25895251 [GRCh38]
Chr22:26291218 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1691G>A (p.Arg564Gln) single nucleotide variant Inborn genetic diseases [RCV003167302]|not provided [RCV001933920] Chr22:25770983 [GRCh38]
Chr22:26166950 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1384G>C (p.Glu462Gln) single nucleotide variant Inborn genetic diseases [RCV004956025]|not provided [RCV001993874] Chr22:25769300 [GRCh38]
Chr22:26165267 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4449A>T (p.Gln1483His) single nucleotide variant not provided [RCV001977709] Chr22:25891318 [GRCh38]
Chr22:26287285 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1918G>A (p.Ala640Thr) single nucleotide variant not provided [RCV001980066] Chr22:25777631 [GRCh38]
Chr22:26173598 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2695+5A>G single nucleotide variant not provided [RCV001916760] Chr22:25823683 [GRCh38]
Chr22:26219650 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3583C>T (p.Arg1195Trp) single nucleotide variant not provided [RCV001992622] Chr22:25847460 [GRCh38]
Chr22:26243427 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2674G>A (p.Glu892Lys) single nucleotide variant Inborn genetic diseases [RCV002562893]|not provided [RCV001955916] Chr22:25823657 [GRCh38]
Chr22:26219624 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3872T>C (p.Ile1291Thr) single nucleotide variant not provided [RCV001978773] Chr22:25851566 [GRCh38]
Chr22:26247533 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.43C>T (p.Arg15Trp) single nucleotide variant not provided [RCV001924604] Chr22:25763234 [GRCh38]
Chr22:26159201 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2249C>A (p.Pro750Gln) single nucleotide variant not provided [RCV001998336] Chr22:25781771 [GRCh38]
Chr22:26177738 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7298A>G (p.Tyr2433Cys) single nucleotide variant not provided [RCV001898185] Chr22:26027272 [GRCh38]
Chr22:26423238 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7031C>T (p.Ser2344Leu) single nucleotide variant not provided [RCV001932722] Chr22:26027005 [GRCh38]
Chr22:26422971 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.533G>A (p.Cys178Tyr) single nucleotide variant not provided [RCV001922656] Chr22:25768449 [GRCh38]
Chr22:26164416 [GRCh37]
Chr22:22q12.1		 benign|uncertain significance
NM_032608.7(MYO18B):c.619G>A (p.Glu207Lys) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003492728]|not provided [RCV002036683] Chr22:25768535 [GRCh38]
Chr22:26164502 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6944G>C (p.Gly2315Ala) single nucleotide variant Inborn genetic diseases [RCV002657669]|not provided [RCV002020037] Chr22:26026918 [GRCh38]
Chr22:26422884 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7203G>C (p.Lys2401Asn) single nucleotide variant Inborn genetic diseases [RCV002657670]|not provided [RCV002020038] Chr22:26027177 [GRCh38]
Chr22:26423143 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1922A>C (p.Gln641Pro) single nucleotide variant not provided [RCV002047212] Chr22:25777635 [GRCh38]
Chr22:26173602 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.568G>A (p.Glu190Lys) single nucleotide variant not provided [RCV002047227] Chr22:25768484 [GRCh38]
Chr22:26164451 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1987G>T (p.Gly663Cys) single nucleotide variant not provided [RCV001877812] Chr22:25777700 [GRCh38]
Chr22:26173667 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3350T>C (p.Val1117Ala) single nucleotide variant not provided [RCV001991412] Chr22:25843876 [GRCh38]
Chr22:26239843 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2101C>T (p.Arg701Trp) single nucleotide variant not provided [RCV002048474] Chr22:25780088 [GRCh38]
Chr22:26176055 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2911G>A (p.Ala971Thr) single nucleotide variant not provided [RCV001919594] Chr22:25828900 [GRCh38]
Chr22:26224867 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1786A>G (p.Lys596Glu) single nucleotide variant not provided [RCV001977884] Chr22:25772427 [GRCh38]
Chr22:26168394 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6223C>T (p.Arg2075Trp) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003130616]|not provided [RCV001936313] Chr22:25992429 [GRCh38]
Chr22:26388395 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.662T>C (p.Leu221Pro) single nucleotide variant not provided [RCV001903073] Chr22:25768578 [GRCh38]
Chr22:26164545 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7181C>T (p.Ala2394Val) single nucleotide variant not provided [RCV002033138] Chr22:26027155 [GRCh38]
Chr22:26423121 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3659C>T (p.Pro1220Leu) single nucleotide variant Inborn genetic diseases [RCV003250342]|not provided [RCV001996612] Chr22:25847536 [GRCh38]
Chr22:26243503 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4315-3C>T single nucleotide variant not provided [RCV001896981] Chr22:25890753 [GRCh38]
Chr22:26286720 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4146G>C (p.Trp1382Cys) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003492279]|not provided [RCV001876696] Chr22:25876254 [GRCh38]
Chr22:26272221 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5364G>A (p.Gln1788=) single nucleotide variant MYO18B-related disorder [RCV003948786]|not provided [RCV001867716] Chr22:25911050 [GRCh38]
Chr22:26307017 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.529C>G (p.Pro177Ala) single nucleotide variant Inborn genetic diseases [RCV004953130]|not provided [RCV002029918] Chr22:25768445 [GRCh38]
Chr22:26164412 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.5698C>A (p.Gln1900Lys) single nucleotide variant not provided [RCV001956982] Chr22:25947778 [GRCh38]
Chr22:26343744 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1796T>C (p.Leu599Pro) single nucleotide variant not provided [RCV001957003] Chr22:25772437 [GRCh38]
Chr22:26168404 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3161T>C (p.Leu1054Pro) single nucleotide variant not provided [RCV001980213] Chr22:25835396 [GRCh38]
Chr22:26231363 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5259+3A>G single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV002489995]|not provided [RCV001907147] Chr22:25908435 [GRCh38]
Chr22:26304402 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1115G>T (p.Gly372Val) single nucleotide variant not provided [RCV002026121] Chr22:25769031 [GRCh38]
Chr22:26164998 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3283C>T (p.Arg1095Trp) single nucleotide variant not provided [RCV001917063] Chr22:25843809 [GRCh38]
Chr22:26239776 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7226G>A (p.Arg2409His) single nucleotide variant Inborn genetic diseases [RCV004956186]|not provided [RCV002033935] Chr22:26027200 [GRCh38]
Chr22:26423166 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7054G>A (p.Glu2352Lys) single nucleotide variant Inborn genetic diseases [RCV002557630]|not provided [RCV001939943] Chr22:26027028 [GRCh38]
Chr22:26422994 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5611A>G (p.Met1871Val) single nucleotide variant not provided [RCV002019093] Chr22:25946230 [GRCh38]
Chr22:26342196 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1156G>A (p.Gly386Ser) single nucleotide variant not provided [RCV001975932] Chr22:25769072 [GRCh38]
Chr22:26165039 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2473C>T (p.Arg825Trp) single nucleotide variant not provided [RCV002009678] Chr22:25798049 [GRCh38]
Chr22:26194016 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.107G>A (p.Gly36Asp) single nucleotide variant not provided [RCV002036411] Chr22:25763298 [GRCh38]
Chr22:26159265 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5090C>T (p.Ala1697Val) single nucleotide variant not provided [RCV001930479] Chr22:25903773 [GRCh38]
Chr22:26299740 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7510C>G (p.His2504Asp) single nucleotide variant not provided [RCV001898606] Chr22:26027484 [GRCh38]
Chr22:26423450 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6104T>C (p.Met2035Thr) single nucleotide variant not provided [RCV001973518] Chr22:25955312 [GRCh38]
Chr22:26351278 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6644G>A (p.Arg2215Lys) single nucleotide variant not provided [RCV001976007] Chr22:26026618 [GRCh38]
Chr22:26422584 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1459G>A (p.Gly487Arg) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV005023478]|not provided [RCV001972046] Chr22:25769375 [GRCh38]
Chr22:26165342 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3329C>A (p.Ser1110Ter) single nucleotide variant not provided [RCV002009775] Chr22:25843855 [GRCh38]
Chr22:26239822 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.4802A>G (p.Glu1601Gly) single nucleotide variant not provided [RCV002031416] Chr22:25898440 [GRCh38]
Chr22:26294407 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4160T>A (p.Leu1387Gln) single nucleotide variant Inborn genetic diseases [RCV002548996]|not provided [RCV002033996] Chr22:25876268 [GRCh38]
Chr22:26272235 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3476T>C (p.Met1159Thr) single nucleotide variant not provided [RCV002017971]|not specified [RCV004526899] Chr22:25846207 [GRCh38]
Chr22:26242174 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3761G>A (p.Arg1254His) single nucleotide variant Inborn genetic diseases [RCV002573410]|not provided [RCV001973526] Chr22:25847638 [GRCh38]
Chr22:26243605 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5513G>A (p.Ser1838Asn) single nucleotide variant Inborn genetic diseases [RCV002545859]|not provided [RCV001878252] Chr22:25921405 [GRCh38]
Chr22:26317372 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.386A>G (p.Gln129Arg) single nucleotide variant not provided [RCV001865049] Chr22:25768302 [GRCh38]
Chr22:26164269 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2291C>T (p.Ala764Val) single nucleotide variant not provided [RCV001866755] Chr22:25781813 [GRCh38]
Chr22:26177780 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2860C>A (p.His954Asn) single nucleotide variant not provided [RCV001904349] Chr22:25828849 [GRCh38]
Chr22:26224816 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5869C>T (p.Gln1957Ter) single nucleotide variant not provided [RCV001906720] Chr22:25952322 [GRCh38]
Chr22:26348288 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.2376G>C (p.Lys792Asn) single nucleotide variant not provided [RCV002035922] Chr22:25785491 [GRCh38]
Chr22:26181458 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3446C>T (p.Thr1149Ile) single nucleotide variant not provided [RCV001978210] Chr22:25846177 [GRCh38]
Chr22:26242144 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5540G>T (p.Cys1847Phe) single nucleotide variant not provided [RCV002034063] Chr22:25946159 [GRCh38]
Chr22:26342125 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1936G>A (p.Ala646Thr) single nucleotide variant not provided [RCV001980441] Chr22:25777649 [GRCh38]
Chr22:26173616 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6077G>A (p.Arg2026Gln) single nucleotide variant not provided [RCV001905617] Chr22:25955285 [GRCh38]
Chr22:26351251 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2488A>G (p.Ile830Val) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003492715]|not provided [RCV001959551] Chr22:25798064 [GRCh38]
Chr22:26194031 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5082A>C (p.Glu1694Asp) single nucleotide variant not provided [RCV001917465] Chr22:25903765 [GRCh38]
Chr22:26299732 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3928G>C (p.Ala1310Pro) single nucleotide variant not provided [RCV001953997] Chr22:25868362 [GRCh38]
Chr22:26264329 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2875C>T (p.Arg959Trp) single nucleotide variant not provided [RCV002030430] Chr22:25828864 [GRCh38]
Chr22:26224831 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2336T>C (p.Met779Thr) single nucleotide variant not provided [RCV001897467] Chr22:25785451 [GRCh38]
Chr22:26181418 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2135G>A (p.Arg712His) single nucleotide variant Inborn genetic diseases [RCV003355717]|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003224600]|not provided [RCV001995366] Chr22:25780122 [GRCh38]
Chr22:26176089 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3496A>G (p.Ser1166Gly) single nucleotide variant not provided [RCV002017487] Chr22:25846227 [GRCh38]
Chr22:26242194 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1212C>T (p.Asn404=) single nucleotide variant not provided [RCV001972385] Chr22:25769128 [GRCh38]
Chr22:26165095 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2969G>A (p.Arg990Gln) single nucleotide variant Inborn genetic diseases [RCV004641907]|not provided [RCV002050448] Chr22:25828958 [GRCh38]
Chr22:26224925 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4226A>T (p.Glu1409Val) single nucleotide variant not provided [RCV001990806] Chr22:25877960 [GRCh38]
Chr22:26273927 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6319G>A (p.Gly2107Ser) single nucleotide variant not provided [RCV002050451] Chr22:26003296 [GRCh38]
Chr22:26399262 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2864A>C (p.Gln955Pro) single nucleotide variant not provided [RCV001881081] Chr22:25828853 [GRCh38]
Chr22:26224820 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3599A>T (p.His1200Leu) single nucleotide variant not provided [RCV001921313] Chr22:25847476 [GRCh38]
Chr22:26243443 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4461A>C (p.Lys1487Asn) single nucleotide variant not provided [RCV001922199] Chr22:25891330 [GRCh38]
Chr22:26287297 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.182C>T (p.Ala61Val) single nucleotide variant not provided [RCV001997504] Chr22:25763373 [GRCh38]
Chr22:26159340 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3424G>A (p.Ala1142Thr) single nucleotide variant not provided [RCV001940734] Chr22:25846155 [GRCh38]
Chr22:26242122 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7142G>A (p.Arg2381His) single nucleotide variant not provided [RCV001993484] Chr22:26027116 [GRCh38]
Chr22:26423082 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7095G>A (p.Leu2365=) single nucleotide variant not provided [RCV001953525] Chr22:26027069 [GRCh38]
Chr22:26423035 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1436G>A (p.Arg479Gln) single nucleotide variant not provided [RCV001919233] Chr22:25769352 [GRCh38]
Chr22:26165319 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3167G>A (p.Arg1056His) single nucleotide variant not provided [RCV001935658] Chr22:25835402 [GRCh38]
Chr22:26231369 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5915T>C (p.Ile1972Thr) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003483873]|not provided [RCV001976273] Chr22:25952368 [GRCh38]
Chr22:26348334 [GRCh37]
Chr22:22q12.1		 uncertain significance|not provided
NM_032608.7(MYO18B):c.127C>T (p.Arg43Trp) single nucleotide variant Inborn genetic diseases [RCV002557566]|not provided [RCV001901427] Chr22:25763318 [GRCh38]
Chr22:26159285 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1045G>C (p.Gly349Arg) single nucleotide variant Inborn genetic diseases [RCV002549049]|not provided [RCV002031313] Chr22:25768961 [GRCh38]
Chr22:26164928 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6517G>A (p.Ala2173Thr) single nucleotide variant Inborn genetic diseases [RCV003289372]|not provided [RCV002017218] Chr22:26026491 [GRCh38]
Chr22:26422457 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6237C>A (p.Asp2079Glu) single nucleotide variant not provided [RCV001883221] Chr22:25992443 [GRCh38]
Chr22:26388409 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5990G>A (p.Arg1997Gln) single nucleotide variant not provided [RCV002013049] Chr22:25955198 [GRCh38]
Chr22:26351164 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3478G>A (p.Val1160Met) single nucleotide variant not provided [RCV002013084] Chr22:25846209 [GRCh38]
Chr22:26242176 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4535C>G (p.Thr1512Ser) single nucleotide variant not provided [RCV001979623] Chr22:25891404 [GRCh38]
Chr22:26287371 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2980-10T>A single nucleotide variant not provided [RCV001981029] Chr22:25832907 [GRCh38]
Chr22:26228874 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.1213G>A (p.Ala405Thr) single nucleotide variant not provided [RCV001960189] Chr22:25769129 [GRCh38]
Chr22:26165096 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6044C>T (p.Ser2015Phe) single nucleotide variant not provided [RCV001979476] Chr22:25955252 [GRCh38]
Chr22:26351218 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6288-3T>G single nucleotide variant not provided [RCV001925477] Chr22:26003262 [GRCh38]
Chr22:26399228 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3506C>G (p.Ala1169Gly) single nucleotide variant not provided [RCV001998993] Chr22:25846237 [GRCh38]
Chr22:26242204 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2853C>G (p.Asn951Lys) single nucleotide variant not provided [RCV001980049] Chr22:25828842 [GRCh38]
Chr22:26224809 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2603C>T (p.Thr868Met) single nucleotide variant Inborn genetic diseases [RCV004956188]|not provided [RCV002034341] Chr22:25823586 [GRCh38]
Chr22:26219553 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6637G>A (p.Val2213Ile) single nucleotide variant not provided [RCV001905412] Chr22:26026611 [GRCh38]
Chr22:26422577 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1142C>T (p.Thr381Met) single nucleotide variant Inborn genetic diseases [RCV004955972]|MYO18B-related disorder [RCV003407997]|not provided [RCV001979748] Chr22:25769058 [GRCh38]
Chr22:26165025 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.5082A>T (p.Glu1694Asp) single nucleotide variant not provided [RCV001981253] Chr22:25903765 [GRCh38]
Chr22:26299732 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6716C>G (p.Ser2239Trp) single nucleotide variant not provided [RCV001939754] Chr22:26026690 [GRCh38]
Chr22:26422656 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3472C>T (p.Arg1158Cys) single nucleotide variant not provided [RCV001905600] Chr22:25846203 [GRCh38]
Chr22:26242170 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5047G>A (p.Val1683Ile) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003331264]|not provided [RCV001980445] Chr22:25903730 [GRCh38]
Chr22:26299697 [GRCh37]
Chr22:22q12.1		 uncertain significance|not provided
NM_032608.7(MYO18B):c.2081G>A (p.Arg694Gln) single nucleotide variant Inborn genetic diseases [RCV003365598]|not provided [RCV001997445] Chr22:25780068 [GRCh38]
Chr22:26176035 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6814C>G (p.Leu2272Val) single nucleotide variant Inborn genetic diseases [RCV002560487]|not provided [RCV001924371] Chr22:26026788 [GRCh38]
Chr22:26422754 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4956G>A (p.Glu1652=) single nucleotide variant MYO18B-related disorder [RCV003948874]|not provided [RCV002018368] Chr22:25903639 [GRCh38]
Chr22:26299606 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1228A>G (p.Ser410Gly) single nucleotide variant not provided [RCV001884772] Chr22:25769144 [GRCh38]
Chr22:26165111 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7303C>T (p.Arg2435Cys) single nucleotide variant not provided [RCV002018758] Chr22:26027277 [GRCh38]
Chr22:26423243 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.551C>T (p.Ala184Val) single nucleotide variant not provided [RCV001906297] Chr22:25768467 [GRCh38]
Chr22:26164434 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1457A>G (p.Asp486Gly) single nucleotide variant Inborn genetic diseases [RCV004955898]|not provided [RCV001981854] Chr22:25769373 [GRCh38]
Chr22:26165340 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3158T>C (p.Val1053Ala) single nucleotide variant not provided [RCV001940357] Chr22:25835393 [GRCh38]
Chr22:26231360 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1205C>T (p.Ser402Phe) single nucleotide variant not provided [RCV001998904] Chr22:25769121 [GRCh38]
Chr22:26165088 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6156+1G>A single nucleotide variant not provided [RCV001924790] Chr22:25955365 [GRCh38]
Chr22:26351331 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_032608.7(MYO18B):c.3241C>A (p.Leu1081Ile) single nucleotide variant not provided [RCV002019540] Chr22:25843767 [GRCh38]
Chr22:26239734 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.941C>T (p.Pro314Leu) single nucleotide variant not provided [RCV001915653] Chr22:25768857 [GRCh38]
Chr22:26164824 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6541A>C (p.Asn2181His) single nucleotide variant not provided [RCV001899783] Chr22:26026515 [GRCh38]
Chr22:26422481 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2786+5C>T single nucleotide variant not provided [RCV001867846] Chr22:25826504 [GRCh38]
Chr22:26222471 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5970+4C>T single nucleotide variant not provided [RCV002013121] Chr22:25952427 [GRCh38]
Chr22:26348393 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1055A>G (p.Gln352Arg) single nucleotide variant Inborn genetic diseases [RCV002571256]|not provided [RCV001961469] Chr22:25768971 [GRCh38]
Chr22:26164938 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.581A>G (p.Glu194Gly) single nucleotide variant Inborn genetic diseases [RCV003167204]|not provided [RCV001951949] Chr22:25768497 [GRCh38]
Chr22:26164464 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1885C>T (p.Arg629Trp) single nucleotide variant not provided [RCV001899877] Chr22:25777598 [GRCh38]
Chr22:26173565 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4434+9_4434+18dup duplication not provided [RCV002013235] Chr22:25890879..25890880 [GRCh38]
Chr22:26286846..26286847 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.4080G>A (p.Lys1360=) single nucleotide variant not provided [RCV002030628] Chr22:25874414 [GRCh38]
Chr22:26270381 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2192T>A (p.Ile731Asn) single nucleotide variant not provided [RCV001902608] Chr22:25780179 [GRCh38]
Chr22:26176146 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.653C>A (p.Thr218Asn) single nucleotide variant not provided [RCV001935877] Chr22:25768569 [GRCh38]
Chr22:26164536 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3380G>A (p.Arg1127Gln) single nucleotide variant not provided [RCV001990772] Chr22:25846111 [GRCh38]
Chr22:26242078 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1877A>G (p.Lys626Arg) single nucleotide variant Inborn genetic diseases [RCV002555692]|not provided [RCV001918424] Chr22:25777590 [GRCh38]
Chr22:26173557 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.1214C>T (p.Ala405Val) single nucleotide variant not provided [RCV001900697] Chr22:25769130 [GRCh38]
Chr22:26165097 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2596C>A (p.Leu866Met) single nucleotide variant not provided [RCV001920235] Chr22:25823579 [GRCh38]
Chr22:26219546 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3832G>A (p.Ala1278Thr) single nucleotide variant not provided [RCV001957685] Chr22:25851526 [GRCh38]
Chr22:26247493 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2174T>C (p.Phe725Ser) single nucleotide variant not provided [RCV001897151] Chr22:25780161 [GRCh38]
Chr22:26176128 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4076T>C (p.Leu1359Pro) single nucleotide variant not provided [RCV002048853] Chr22:25874410 [GRCh38]
Chr22:26270377 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1622C>T (p.Ala541Val) single nucleotide variant Inborn genetic diseases [RCV003164082]|not provided [RCV001870423] Chr22:25770914 [GRCh38]
Chr22:26166881 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.875C>T (p.Thr292Met) single nucleotide variant not provided [RCV001902646] Chr22:25768791 [GRCh38]
Chr22:26164758 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3422G>A (p.Arg1141Gln) single nucleotide variant not provided [RCV001995846] Chr22:25846153 [GRCh38]
Chr22:26242120 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5159G>A (p.Arg1720Gln) single nucleotide variant Inborn genetic diseases [RCV004041404]|not provided [RCV001875379] Chr22:25908332 [GRCh38]
Chr22:26304299 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6593G>A (p.Arg2198His) single nucleotide variant MYO18B-related disorder [RCV003395278]|not provided [RCV001918707] Chr22:26026567 [GRCh38]
Chr22:26422533 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5039A>G (p.Glu1680Gly) single nucleotide variant not provided [RCV002049852] Chr22:25903722 [GRCh38]
Chr22:26299689 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6640C>T (p.Gln2214Ter) single nucleotide variant not provided [RCV002027193] Chr22:26026614 [GRCh38]
Chr22:26422580 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.1906A>G (p.Ile636Val) single nucleotide variant not provided [RCV002010692] Chr22:25777619 [GRCh38]
Chr22:26173586 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5852G>A (p.Arg1951His) single nucleotide variant not provided [RCV001973070] Chr22:25952305 [GRCh38]
Chr22:26348271 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5509C>A (p.His1837Asn) single nucleotide variant Inborn genetic diseases [RCV002562936]|not provided [RCV001992739] Chr22:25921401 [GRCh38]
Chr22:26317368 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4297G>A (p.Asp1433Asn) single nucleotide variant not provided [RCV002013477] Chr22:25878031 [GRCh38]
Chr22:26273998 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1101C>T (p.Asp367=) single nucleotide variant not provided [RCV001956773] Chr22:25769017 [GRCh38]
Chr22:26164984 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6523A>G (p.Ser2175Gly) single nucleotide variant not provided [RCV001898446] Chr22:26026497 [GRCh38]
Chr22:26422463 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6981A>T (p.Lys2327Asn) single nucleotide variant not provided [RCV002029170] Chr22:26026955 [GRCh38]
Chr22:26422921 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2701A>G (p.Lys901Glu) single nucleotide variant not provided [RCV002049053] Chr22:25826414 [GRCh38]
Chr22:26222381 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1988G>A (p.Gly663Asp) single nucleotide variant not provided [RCV001976804] Chr22:25777701 [GRCh38]
Chr22:26173668 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5866G>C (p.Glu1956Gln) single nucleotide variant not provided [RCV001878442] Chr22:25952319 [GRCh38]
Chr22:26348285 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1840C>T (p.Arg614Trp) single nucleotide variant Inborn genetic diseases [RCV004046902]|not provided [RCV002027608] Chr22:25772481 [GRCh38]
Chr22:26168448 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7081A>G (p.Met2361Val) single nucleotide variant Inborn genetic diseases [RCV002551679]|not provided [RCV001900242] Chr22:26027055 [GRCh38]
Chr22:26423021 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_25597364)_(26272319_?)dup duplication not provided [RCV001934454] Chr22:25597364..26272319 [GRCh37]
Chr22:22q11.23-12.1		 uncertain significance
NM_032608.7(MYO18B):c.6080G>T (p.Arg2027Leu) single nucleotide variant not provided [RCV002031064] Chr22:25955288 [GRCh38]
Chr22:26351254 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3008C>T (p.Pro1003Leu) single nucleotide variant not provided [RCV001979387] Chr22:25832945 [GRCh38]
Chr22:26228912 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1820A>G (p.Asp607Gly) single nucleotide variant not provided [RCV001991205] Chr22:25772461 [GRCh38]
Chr22:26168428 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.632C>T (p.Pro211Leu) single nucleotide variant not provided [RCV001977798] Chr22:25768548 [GRCh38]
Chr22:26164515 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4549G>A (p.Glu1517Lys) single nucleotide variant Inborn genetic diseases [RCV004641714]|not provided [RCV001904348] Chr22:25895161 [GRCh38]
Chr22:26291128 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6454C>T (p.Arg2152Cys) single nucleotide variant Inborn genetic diseases [RCV002552110]|not provided [RCV001900347] Chr22:26004839 [GRCh38]
Chr22:26400805 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7160T>C (p.Leu2387Pro) single nucleotide variant not provided [RCV001904594] Chr22:26027134 [GRCh38]
Chr22:26423100 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2232C>G (p.Ser744Arg) single nucleotide variant Inborn genetic diseases [RCV003170440]|not provided [RCV002010021] Chr22:25781754 [GRCh38]
Chr22:26177721 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4604G>A (p.Arg1535His) single nucleotide variant not provided [RCV001881554] Chr22:25895216 [GRCh38]
Chr22:26291183 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3865G>A (p.Glu1289Lys) single nucleotide variant not provided [RCV001916322] Chr22:25851559 [GRCh38]
Chr22:26247526 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6823T>C (p.Trp2275Arg) single nucleotide variant not provided [RCV002012890] Chr22:26026797 [GRCh38]
Chr22:26422763 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4802del (p.Glu1601fs) deletion not provided [RCV001922010] Chr22:25898440 [GRCh38]
Chr22:26294407 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_032608.7(MYO18B):c.1207G>A (p.Gly403Arg) single nucleotide variant not provided [RCV002027580] Chr22:25769123 [GRCh38]
Chr22:26165090 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.702C>T (p.Gly234=) single nucleotide variant not provided [RCV001880659] Chr22:25768618 [GRCh38]
Chr22:26164585 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6142C>T (p.Arg2048Trp) single nucleotide variant Inborn genetic diseases [RCV002555227]|not provided [RCV001898644] Chr22:25955350 [GRCh38]
Chr22:26351316 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2830G>A (p.Val944Met) single nucleotide variant not provided [RCV001995159] Chr22:25828819 [GRCh38]
Chr22:26224786 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2188C>T (p.Arg730Cys) single nucleotide variant Inborn genetic diseases [RCV002557797]|MYO18B-related disorder [RCV003923366]|not provided [RCV001931066] Chr22:25780175 [GRCh38]
Chr22:26176142 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3060+20A>G single nucleotide variant not provided [RCV002126388] Chr22:25833017 [GRCh38]
Chr22:26228984 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2094T>C (p.Thr698=) single nucleotide variant not provided [RCV002167617] Chr22:25780081 [GRCh38]
Chr22:26176048 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6687T>A (p.Ala2229=) single nucleotide variant not provided [RCV002205659] Chr22:26026661 [GRCh38]
Chr22:26422627 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4668+18T>A single nucleotide variant not provided [RCV002076417] Chr22:25895298 [GRCh38]
Chr22:26291265 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3421C>T (p.Arg1141Trp) single nucleotide variant not provided [RCV002105464] Chr22:25846152 [GRCh38]
Chr22:26242119 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6382T>C (p.Trp2128Arg) single nucleotide variant MYO18B-related disorder [RCV003950888]|not provided [RCV002170297] Chr22:26004767 [GRCh38]
Chr22:26400733 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2130C>T (p.His710=) single nucleotide variant not provided [RCV002073526] Chr22:25780117 [GRCh38]
Chr22:26176084 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5260-13T>C single nucleotide variant not provided [RCV002109946] Chr22:25910933 [GRCh38]
Chr22:26306900 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4434+14G>C single nucleotide variant not provided [RCV002128264] Chr22:25890889 [GRCh38]
Chr22:26286856 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5454G>A (p.Leu1818=) single nucleotide variant not provided [RCV002168632] Chr22:25921346 [GRCh38]
Chr22:26317313 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4635G>A (p.Ser1545=) single nucleotide variant not provided [RCV002128375] Chr22:25895247 [GRCh38]
Chr22:26291214 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4824-7T>C single nucleotide variant not provided [RCV002089390] Chr22:25902606 [GRCh38]
Chr22:26298573 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.423T>C (p.Thr141=) single nucleotide variant not provided [RCV002091087] Chr22:25768339 [GRCh38]
Chr22:26164306 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5148+19A>G single nucleotide variant not provided [RCV002168377] Chr22:25903850 [GRCh38]
Chr22:26299817 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4023T>A (p.Val1341=) single nucleotide variant not provided [RCV002074900] Chr22:25874357 [GRCh38]
Chr22:26270324 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6121C>A (p.Arg2041=) single nucleotide variant not provided [RCV002145671] Chr22:25955329 [GRCh38]
Chr22:26351295 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3660G>A (p.Pro1220=) single nucleotide variant not provided [RCV002127164] Chr22:25847537 [GRCh38]
Chr22:26243504 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1791T>C (p.Ala597=) single nucleotide variant not provided [RCV002089673] Chr22:25772432 [GRCh38]
Chr22:26168399 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7053C>T (p.Cys2351=) single nucleotide variant not provided [RCV002091495] Chr22:26027027 [GRCh38]
Chr22:26422993 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1580-11T>G single nucleotide variant not provided [RCV002124515] Chr22:25770861 [GRCh38]
Chr22:26166828 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1513-9G>T single nucleotide variant not provided [RCV002167516] Chr22:25770101 [GRCh38]
Chr22:26166068 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.441C>T (p.Gly147=) single nucleotide variant not provided [RCV002191748] Chr22:25768357 [GRCh38]
Chr22:26164324 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3330G>A (p.Ser1110=) single nucleotide variant not provided [RCV002147592] Chr22:25843856 [GRCh38]
Chr22:26239823 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2313-16C>T single nucleotide variant not provided [RCV002110972] Chr22:25785412 [GRCh38]
Chr22:26181379 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5616G>A (p.Thr1872=) single nucleotide variant not provided [RCV002167645] Chr22:25946235 [GRCh38]
Chr22:26342201 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2508G>A (p.Ala836=) single nucleotide variant not provided [RCV002189693] Chr22:25798084 [GRCh38]
Chr22:26194051 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2211+12C>T single nucleotide variant not provided [RCV002146027] Chr22:25780210 [GRCh38]
Chr22:26176177 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4080+13G>A single nucleotide variant not provided [RCV002189680] Chr22:25874427 [GRCh38]
Chr22:26270394 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3368+10G>T single nucleotide variant not provided [RCV002088363] Chr22:25843904 [GRCh38]
Chr22:26239871 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7644A>G (p.Pro2548=) single nucleotide variant not provided [RCV002125075] Chr22:26027618 [GRCh38]
Chr22:26423584 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5517+12G>A single nucleotide variant not provided [RCV002106546] Chr22:25921421 [GRCh38]
Chr22:26317388 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7689A>G (p.Lys2563=) single nucleotide variant not provided [RCV002129274] Chr22:26027663 [GRCh38]
Chr22:26423629 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1579+11dup duplication not provided [RCV002090164] Chr22:25770183..25770184 [GRCh38]
Chr22:26166150..26166151 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5149-5C>T single nucleotide variant not provided [RCV002187403] Chr22:25908317 [GRCh38]
Chr22:26304284 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4948-7T>C single nucleotide variant MYO18B-related disorder [RCV003913495]|not provided [RCV002071297] Chr22:25903624 [GRCh38]
Chr22:26299591 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2596C>T (p.Leu866=) single nucleotide variant not provided [RCV002089714] Chr22:25823579 [GRCh38]
Chr22:26219546 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3660G>T (p.Pro1220=) single nucleotide variant not provided [RCV002075122] Chr22:25847537 [GRCh38]
Chr22:26243504 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2109C>T (p.Phe703=) single nucleotide variant MYO18B-related disorder [RCV003923484]|not provided [RCV002165852] Chr22:25780096 [GRCh38]
Chr22:26176063 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3279T>C (p.Pro1093=) single nucleotide variant not provided [RCV002166437] Chr22:25843805 [GRCh38]
Chr22:26239772 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3585G>A (p.Arg1195=) single nucleotide variant not provided [RCV002146928] Chr22:25847462 [GRCh38]
Chr22:26243429 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.924C>T (p.His308=) single nucleotide variant not provided [RCV002092337] Chr22:25768840 [GRCh38]
Chr22:26164807 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.459G>A (p.Val153=) single nucleotide variant not provided [RCV002167979] Chr22:25768375 [GRCh38]
Chr22:26164342 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2982A>G (p.Glu994=) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003130684]|MYO18B-related disorder [RCV004741205]|not provided [RCV002090238] Chr22:25832919 [GRCh38]
Chr22:26228886 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.1851G>A (p.Ser617=) single nucleotide variant not provided [RCV002105799] Chr22:25772492 [GRCh38]
Chr22:26168459 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4467A>C (p.Gly1489=) single nucleotide variant not provided [RCV002190696] Chr22:25891336 [GRCh38]
Chr22:26287303 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5518-11G>T single nucleotide variant not provided [RCV002128421] Chr22:25946126 [GRCh38]
Chr22:26342092 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7662C>T (p.Asp2554=) single nucleotide variant not provided [RCV002168092] Chr22:26027636 [GRCh38]
Chr22:26423602 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4225-16G>A single nucleotide variant not provided [RCV002186473] Chr22:25877943 [GRCh38]
Chr22:26273910 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6470+13C>G single nucleotide variant not provided [RCV002166748] Chr22:26004868 [GRCh38]
Chr22:26400834 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7665C>T (p.Asp2555=) single nucleotide variant not provided [RCV002209436] Chr22:26027639 [GRCh38]
Chr22:26423605 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3930G>A (p.Ala1310=) single nucleotide variant not provided [RCV002106569] Chr22:25868364 [GRCh38]
Chr22:26264331 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2817C>A (p.Ala939=) single nucleotide variant not provided [RCV002127221] Chr22:25828806 [GRCh38]
Chr22:26224773 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6339C>T (p.Asn2113=) single nucleotide variant not provided [RCV002166834] Chr22:26004724 [GRCh38]
Chr22:26400690 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4180C>T (p.Leu1394=) single nucleotide variant not provided [RCV002105858] Chr22:25876288 [GRCh38]
Chr22:26272255 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2661C>T (p.Ser887=) single nucleotide variant not provided [RCV002145912] Chr22:25823644 [GRCh38]
Chr22:26219611 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7182G>A (p.Ala2394=) single nucleotide variant not provided [RCV002107743] Chr22:26027156 [GRCh38]
Chr22:26423122 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5034G>C (p.Leu1678=) single nucleotide variant not provided [RCV002147975] Chr22:25903717 [GRCh38]
Chr22:26299684 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2742C>T (p.Gly914=) single nucleotide variant not provided [RCV002090811] Chr22:25826455 [GRCh38]
Chr22:26222422 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3951+18C>G single nucleotide variant not provided [RCV002166216] Chr22:25868403 [GRCh38]
Chr22:26264370 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3558G>A (p.Ala1186=) single nucleotide variant not provided [RCV002111061] Chr22:25847435 [GRCh38]
Chr22:26243402 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3348G>A (p.Gln1116=) single nucleotide variant not provided [RCV002147356] Chr22:25843874 [GRCh38]
Chr22:26239841 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.693G>A (p.Leu231=) single nucleotide variant not provided [RCV002109511] Chr22:25768609 [GRCh38]
Chr22:26164576 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1870-18C>T single nucleotide variant not provided [RCV002191290] Chr22:25777565 [GRCh38]
Chr22:26173532 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5916C>A (p.Ile1972=) single nucleotide variant not provided [RCV002087393] Chr22:25952369 [GRCh38]
Chr22:26348335 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1674T>C (p.Asp558=) single nucleotide variant not provided [RCV002074639] Chr22:25770966 [GRCh38]
Chr22:26166933 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5632-14T>C single nucleotide variant not provided [RCV002168882] Chr22:25947698 [GRCh38]
Chr22:26343664 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4035G>A (p.Ala1345=) single nucleotide variant not provided [RCV002108621] Chr22:25874369 [GRCh38]
Chr22:26270336 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4434+20_4434+29del microsatellite not provided [RCV002189116] Chr22:25890885..25890894 [GRCh38]
Chr22:26286852..26286861 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3183C>T (p.Phe1061=) single nucleotide variant not provided [RCV002087326] Chr22:25835418 [GRCh38]
Chr22:26231385 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4617C>T (p.Cys1539=) single nucleotide variant not provided [RCV002108400] Chr22:25895229 [GRCh38]
Chr22:26291196 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6759C>T (p.Phe2253=) single nucleotide variant not provided [RCV002210570] Chr22:26026733 [GRCh38]
Chr22:26422699 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.485C>T (p.Pro162Leu) single nucleotide variant Inborn genetic diseases [RCV004956219]|MYO18B-related disorder [RCV004741214]|not provided [RCV002209821] Chr22:25768401 [GRCh38]
Chr22:26164368 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.3318G>A (p.Lys1106=) single nucleotide variant not provided [RCV002169631] Chr22:25843844 [GRCh38]
Chr22:26239811 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1554G>A (p.Leu518=) single nucleotide variant not provided [RCV002109825] Chr22:25770151 [GRCh38]
Chr22:26166118 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5388G>A (p.Val1796=) single nucleotide variant not provided [RCV002169593] Chr22:25921280 [GRCh38]
Chr22:26317247 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2069-19C>T single nucleotide variant not provided [RCV002073542] Chr22:25780037 [GRCh38]
Chr22:26176004 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1226G>A (p.Arg409Gln) single nucleotide variant not provided [RCV002185866] Chr22:25769142 [GRCh38]
Chr22:26165109 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1932C>T (p.Tyr644=) single nucleotide variant not provided [RCV002130027] Chr22:25777645 [GRCh38]
Chr22:26173612 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5175C>T (p.Ile1725=) single nucleotide variant not provided [RCV002085553] Chr22:25908348 [GRCh38]
Chr22:26304315 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1692+20G>A single nucleotide variant not provided [RCV002116385] Chr22:25771004 [GRCh38]
Chr22:26166971 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4669-14T>G single nucleotide variant not provided [RCV002171593] Chr22:25898293 [GRCh38]
Chr22:26294260 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6981A>G (p.Lys2327=) single nucleotide variant not provided [RCV002206092] Chr22:26026955 [GRCh38]
Chr22:26422921 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3684G>A (p.Gly1228=) single nucleotide variant not provided [RCV002094930] Chr22:25847561 [GRCh38]
Chr22:26243528 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4677G>A (p.Glu1559=) single nucleotide variant not provided [RCV002080726] Chr22:25898315 [GRCh38]
Chr22:26294282 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7410T>C (p.Arg2470=) single nucleotide variant not provided [RCV002197425] Chr22:26027384 [GRCh38]
Chr22:26423350 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2050G>C (p.Val684Leu) single nucleotide variant not provided [RCV002175184] Chr22:25777763 [GRCh38]
Chr22:26173730 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1701T>C (p.Pro567=) single nucleotide variant not provided [RCV002131935] Chr22:25772342 [GRCh38]
Chr22:26168309 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1693-17G>C single nucleotide variant not provided [RCV002174235] Chr22:25772317 [GRCh38]
Chr22:26168284 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4824-4A>G single nucleotide variant not provided [RCV002112831] Chr22:25902609 [GRCh38]
Chr22:26298576 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1512+14G>A single nucleotide variant not provided [RCV002194421] Chr22:25769442 [GRCh38]
Chr22:26165409 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3369-11C>T single nucleotide variant not provided [RCV002086801] Chr22:25846089 [GRCh38]
Chr22:26242056 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.618C>T (p.Thr206=) single nucleotide variant not provided [RCV002207824] Chr22:25768534 [GRCh38]
Chr22:26164501 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3507C>T (p.Ala1169=) single nucleotide variant not provided [RCV002092993] Chr22:25846238 [GRCh38]
Chr22:26242205 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1513-15G>C single nucleotide variant not provided [RCV002172064] Chr22:25770095 [GRCh38]
Chr22:26166062 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1512+9del deletion not provided [RCV002170753] Chr22:25769433 [GRCh38]
Chr22:26165400 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.7563T>C (p.Ala2521=) single nucleotide variant not provided [RCV002130814] Chr22:26027537 [GRCh38]
Chr22:26423503 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6287+18C>T single nucleotide variant not provided [RCV002107849] Chr22:25992511 [GRCh38]
Chr22:26388477 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.4169C>T (p.Ser1390Phe) single nucleotide variant not provided [RCV002091454] Chr22:25876277 [GRCh38]
Chr22:26272244 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.7299C>T (p.Tyr2433=) single nucleotide variant MYO18B-related disorder [RCV003978681]|not provided [RCV002129526] Chr22:26027273 [GRCh38]
Chr22:26423239 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6513A>C (p.Ala2171=) single nucleotide variant not provided [RCV002169247] Chr22:26026487 [GRCh38]
Chr22:26422453 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5077T>C (p.Leu1693=) single nucleotide variant not provided [RCV002174399] Chr22:25903760 [GRCh38]
Chr22:26299727 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3209-16C>T single nucleotide variant not provided [RCV002131319] Chr22:25843719 [GRCh38]
Chr22:26239686 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.72C>T (p.Ser24=) single nucleotide variant not provided [RCV002193548] Chr22:25763263 [GRCh38]
Chr22:26159230 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.445A>G (p.Arg149Gly) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003492733]|not provided [RCV002115299] Chr22:25768361 [GRCh38]
Chr22:26164328 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.7545C>T (p.Ile2515=) single nucleotide variant not provided [RCV002153395] Chr22:26027519 [GRCh38]
Chr22:26423485 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1089C>T (p.Gly363=) single nucleotide variant not provided [RCV002117287] Chr22:25769005 [GRCh38]
Chr22:26164972 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5517+11C>T single nucleotide variant not provided [RCV002131431] Chr22:25921420 [GRCh38]
Chr22:26317387 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7023C>T (p.Pro2341=) single nucleotide variant not provided [RCV002131477] Chr22:26026997 [GRCh38]
Chr22:26422963 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.40-8C>T single nucleotide variant not provided [RCV002116670] Chr22:25763223 [GRCh38]
Chr22:26159190 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1512+9G>A single nucleotide variant not provided [RCV002081004] Chr22:25769437 [GRCh38]
Chr22:26165404 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3942G>A (p.Gly1314=) single nucleotide variant not provided [RCV002171291] Chr22:25868376 [GRCh38]
Chr22:26264343 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2397G>A (p.Ala799=) single nucleotide variant not provided [RCV002153237] Chr22:25797973 [GRCh38]
Chr22:26193940 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1470G>A (p.Pro490=) single nucleotide variant MYO18B-related disorder [RCV003951131]|not provided [RCV002149551] Chr22:25769386 [GRCh38]
Chr22:26165353 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.328G>A (p.Glu110Lys) single nucleotide variant not provided [RCV002095175] Chr22:25768244 [GRCh38]
Chr22:26164211 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3703C>T (p.Leu1235=) single nucleotide variant not provided [RCV002187574] Chr22:25847580 [GRCh38]
Chr22:26243547 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.249C>T (p.Thr83=) single nucleotide variant not provided [RCV002174036] Chr22:25768165 [GRCh38]
Chr22:26164132 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4401G>T (p.Arg1467=) single nucleotide variant not provided [RCV002080542] Chr22:25890842 [GRCh38]
Chr22:26286809 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5598C>T (p.Ser1866=) single nucleotide variant not provided [RCV002148913] Chr22:25946217 [GRCh38]
Chr22:26342183 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.936A>G (p.Gln312=) single nucleotide variant not provided [RCV002078193] Chr22:25768852 [GRCh38]
Chr22:26164819 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6012G>A (p.Gly2004=) single nucleotide variant not provided [RCV002095535] Chr22:25955220 [GRCh38]
Chr22:26351186 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.585C>T (p.Thr195=) single nucleotide variant not provided [RCV002214015] Chr22:25768501 [GRCh38]
Chr22:26164468 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5439C>T (p.Asp1813=) single nucleotide variant not provided [RCV002085803] Chr22:25921331 [GRCh38]
Chr22:26317298 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.396C>A (p.Gly132=) single nucleotide variant not provided [RCV002107361] Chr22:25768312 [GRCh38]
Chr22:26164279 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3553-9T>C single nucleotide variant MYO18B-related disorder [RCV003913620]|not provided [RCV002092925] Chr22:25847421 [GRCh38]
Chr22:26243388 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6318C>T (p.Ser2106=) single nucleotide variant MYO18B-related disorder [RCV003903504]|not provided [RCV002114665] Chr22:26003295 [GRCh38]
Chr22:26399261 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.2313-20G>A single nucleotide variant not provided [RCV002134289] Chr22:25785408 [GRCh38]
Chr22:26181375 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1584G>A (p.Thr528=) single nucleotide variant not provided [RCV002172175] Chr22:25770876 [GRCh38]
Chr22:26166843 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.21C>T (p.Leu7=) single nucleotide variant MYO18B-related disorder [RCV003951337]|not provided [RCV002213799] Chr22:25761113 [GRCh38]
Chr22:26157080 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.483C>T (p.Asp161=) single nucleotide variant MYO18B-related disorder [RCV003916302]|not provided [RCV002133674] Chr22:25768399 [GRCh38]
Chr22:26164366 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7602G>A (p.Ala2534=) single nucleotide variant not provided [RCV002153464] Chr22:26027576 [GRCh38]
Chr22:26423542 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2853C>T (p.Asn951=) single nucleotide variant not provided [RCV002209342] Chr22:25828842 [GRCh38]
Chr22:26224809 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3369-14C>T single nucleotide variant not provided [RCV002149058] Chr22:25846086 [GRCh38]
Chr22:26242053 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3951+7A>C single nucleotide variant not provided [RCV002150034] Chr22:25868392 [GRCh38]
Chr22:26264359 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6005A>G (p.Lys2002Arg) single nucleotide variant Inborn genetic diseases [RCV004958424]|MYO18B-related disorder [RCV003923610]|not provided [RCV002109408] Chr22:25955213 [GRCh38]
Chr22:26351179 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.7431G>A (p.Thr2477=) single nucleotide variant not provided [RCV002146167] Chr22:26027405 [GRCh38]
Chr22:26423371 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3630C>T (p.Ser1210=) single nucleotide variant not provided [RCV002170768] Chr22:25847507 [GRCh38]
Chr22:26243474 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2910C>T (p.Tyr970=) single nucleotide variant not provided [RCV002094682] Chr22:25828899 [GRCh38]
Chr22:26224866 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6510G>A (p.Ser2170=) single nucleotide variant not provided [RCV002079500] Chr22:26026484 [GRCh38]
Chr22:26422450 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7356G>C (p.Gln2452His) single nucleotide variant not provided [RCV002115434] Chr22:26027330 [GRCh38]
Chr22:26423296 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1579+11G>T single nucleotide variant not provided [RCV002206499] Chr22:25770187 [GRCh38]
Chr22:26166154 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2787-12_2787-11del deletion not provided [RCV002074787] Chr22:25828764..25828765 [GRCh38]
Chr22:26224731..26224732 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5028C>G (p.Pro1676=) single nucleotide variant not provided [RCV002151776] Chr22:25903711 [GRCh38]
Chr22:26299678 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3209-4C>T single nucleotide variant not provided [RCV002170534] Chr22:25843731 [GRCh38]
Chr22:26239698 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5025A>G (p.Ser1675=) single nucleotide variant not provided [RCV002152964] Chr22:25903708 [GRCh38]
Chr22:26299675 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2961G>A (p.Thr987=) single nucleotide variant not provided [RCV002186281] Chr22:25828950 [GRCh38]
Chr22:26224917 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3864C>T (p.Ser1288=) single nucleotide variant not provided [RCV002087171] Chr22:25851558 [GRCh38]
Chr22:26247525 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2142C>T (p.Ala714=) single nucleotide variant not provided [RCV002108189] Chr22:25780129 [GRCh38]
Chr22:26176096 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.633G>A (p.Pro211=) single nucleotide variant not provided [RCV002092952] Chr22:25768549 [GRCh38]
Chr22:26164516 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1512+16C>T single nucleotide variant not provided [RCV002194948] Chr22:25769444 [GRCh38]
Chr22:26165411 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4341C>T (p.Ala1447=) single nucleotide variant not provided [RCV002133879] Chr22:25890782 [GRCh38]
Chr22:26286749 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3009G>A (p.Pro1003=) single nucleotide variant not provided [RCV002134495] Chr22:25832946 [GRCh38]
Chr22:26228913 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.3760C>T (p.Arg1254Cys) single nucleotide variant not provided [RCV002112917] Chr22:25847637 [GRCh38]
Chr22:26243604 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4668+13G>C single nucleotide variant not provided [RCV002116597] Chr22:25895293 [GRCh38]
Chr22:26291260 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7506C>T (p.Pro2502=) single nucleotide variant not provided [RCV002108424] Chr22:26027480 [GRCh38]
Chr22:26423446 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.723G>A (p.Val241=) single nucleotide variant not provided [RCV002090289] Chr22:25768639 [GRCh38]
Chr22:26164606 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2114C>T (p.Ser705Phe) single nucleotide variant MYO18B-related disorder [RCV003950941]|not provided [RCV002211694] Chr22:25780101 [GRCh38]
Chr22:26176068 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.74C>T (p.Ser25Leu) single nucleotide variant MYO18B-related disorder [RCV003970964]|not provided [RCV002134676] Chr22:25763265 [GRCh38]
Chr22:26159232 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.7143T>A (p.Arg2381=) single nucleotide variant not provided [RCV002153267] Chr22:26027117 [GRCh38]
Chr22:26423083 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7032G>A (p.Ser2344=) single nucleotide variant not provided [RCV002153130] Chr22:26027006 [GRCh38]
Chr22:26422972 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.156G>A (p.Ala52=) single nucleotide variant MYO18B-related disorder [RCV004741255]|not provided [RCV002171480] Chr22:25763347 [GRCh38]
Chr22:26159314 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2964A>G (p.Leu988=) single nucleotide variant not provided [RCV002094342] Chr22:25828953 [GRCh38]
Chr22:26224920 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3297G>A (p.Thr1099=) single nucleotide variant not provided [RCV002075677] Chr22:25843823 [GRCh38]
Chr22:26239790 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3330G>C (p.Ser1110=) single nucleotide variant not provided [RCV002134003] Chr22:25843856 [GRCh38]
Chr22:26239823 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2376+11G>C single nucleotide variant not provided [RCV002114837] Chr22:25785502 [GRCh38]
Chr22:26181469 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4239G>A (p.Thr1413=) single nucleotide variant not provided [RCV002107421] Chr22:25877973 [GRCh38]
Chr22:26273940 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2695+20T>C single nucleotide variant not provided [RCV002148706] Chr22:25823698 [GRCh38]
Chr22:26219665 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1845G>T (p.Gly615=) single nucleotide variant MYO18B-related disorder [RCV003911194]|not provided [RCV002077963] Chr22:25772486 [GRCh38]
Chr22:26168453 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.945G>A (p.Gly315=) single nucleotide variant not provided [RCV002174664] Chr22:25768861 [GRCh38]
Chr22:26164828 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.987C>T (p.Asp329=) single nucleotide variant not provided [RCV002207498] Chr22:25768903 [GRCh38]
Chr22:26164870 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6507G>T (p.Gln2169His) single nucleotide variant Inborn genetic diseases [RCV002554377]|MYO18B-related disorder [RCV003923476]|not provided [RCV002174637]|not specified [RCV004699663] Chr22:26026481 [GRCh38]
Chr22:26422447 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.7647G>A (p.Gly2549=) single nucleotide variant not provided [RCV002085487] Chr22:26027621 [GRCh38]
Chr22:26423587 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1971G>A (p.Val657=) single nucleotide variant not provided [RCV002089273] Chr22:25777684 [GRCh38]
Chr22:26173651 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5895C>T (p.Val1965=) single nucleotide variant not provided [RCV002101518] Chr22:25952348 [GRCh38]
Chr22:26348314 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3952-5C>G single nucleotide variant not provided [RCV002157343] Chr22:25874281 [GRCh38]
Chr22:26270248 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1833C>G (p.Leu611=) single nucleotide variant not provided [RCV002203356] Chr22:25772474 [GRCh38]
Chr22:26168441 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3951+9A>G single nucleotide variant not provided [RCV002175200] Chr22:25868394 [GRCh38]
Chr22:26264361 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1870-15G>A single nucleotide variant not provided [RCV002137181] Chr22:25777568 [GRCh38]
Chr22:26173535 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3234G>A (p.Glu1078=) single nucleotide variant not provided [RCV002201895] Chr22:25843760 [GRCh38]
Chr22:26239727 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2896C>T (p.Leu966=) single nucleotide variant not provided [RCV002081759] Chr22:25828885 [GRCh38]
Chr22:26224852 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4823+12C>T single nucleotide variant not provided [RCV002179533] Chr22:25898473 [GRCh38]
Chr22:26294440 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6939C>T (p.Ile2313=) single nucleotide variant not provided [RCV002160061] Chr22:26026913 [GRCh38]
Chr22:26422879 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.837A>G (p.Pro279=) single nucleotide variant not provided [RCV002100136] Chr22:25768753 [GRCh38]
Chr22:26164720 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2697G>A (p.Gly899=) single nucleotide variant MYO18B-related disorder [RCV003916324]|not provided [RCV002141421] Chr22:25826410 [GRCh38]
Chr22:26222377 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3723G>A (p.Arg1241=) single nucleotide variant not provided [RCV002098464] Chr22:25847600 [GRCh38]
Chr22:26243567 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4587C>T (p.Asn1529=) single nucleotide variant not provided [RCV002083644] Chr22:25895199 [GRCh38]
Chr22:26291166 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.495C>G (p.Ala165=) single nucleotide variant not provided [RCV002154648] Chr22:25768411 [GRCh38]
Chr22:26164378 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6157-16C>T single nucleotide variant not provided [RCV002102551] Chr22:25992347 [GRCh38]
Chr22:26388313 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1579+11G>A single nucleotide variant not provided [RCV002158609] Chr22:25770187 [GRCh38]
Chr22:26166154 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1512+13C>T single nucleotide variant not provided [RCV002200593] Chr22:25769441 [GRCh38]
Chr22:26165408 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1566T>C (p.Asp522=) single nucleotide variant not provided [RCV002202532] Chr22:25770163 [GRCh38]
Chr22:26166130 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3209-11T>C single nucleotide variant not provided [RCV002084021] Chr22:25843724 [GRCh38]
Chr22:26239691 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3639G>A (p.Gly1213=) single nucleotide variant MYO18B-related disorder [RCV003913611]|not provided [RCV002219238] Chr22:25847516 [GRCh38]
Chr22:26243483 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4224+8T>C single nucleotide variant not provided [RCV002178168] Chr22:25876340 [GRCh38]
Chr22:26272307 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6009G>C (p.Met2003Ile) single nucleotide variant MYO18B-related disorder [RCV003971181]|not provided [RCV002199091] Chr22:25955217 [GRCh38]
Chr22:26351183 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3369-8C>T single nucleotide variant not provided [RCV002142198] Chr22:25846092 [GRCh38]
Chr22:26242059 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2179G>A (p.Ala727Thr) single nucleotide variant Inborn genetic diseases [RCV003025452]|MYO18B-related disorder [RCV003951128]|not provided [RCV002142203] Chr22:25780166 [GRCh38]
Chr22:26176133 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.3757C>T (p.Leu1253=) single nucleotide variant not provided [RCV002155304] Chr22:25847634 [GRCh38]
Chr22:26243601 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5427A>G (p.Ala1809=) single nucleotide variant not provided [RCV002159416] Chr22:25921319 [GRCh38]
Chr22:26317286 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3369-17T>G single nucleotide variant not provided [RCV002140742] Chr22:25846083 [GRCh38]
Chr22:26242050 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5274A>G (p.Glu1758=) single nucleotide variant not provided [RCV002176918] Chr22:25910960 [GRCh38]
Chr22:26306927 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6477C>T (p.Asn2159=) single nucleotide variant not provided [RCV002203358] Chr22:26026451 [GRCh38]
Chr22:26422417 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5022G>T (p.Gly1674=) single nucleotide variant not provided [RCV002119274] Chr22:25903705 [GRCh38]
Chr22:26299672 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6854G>A (p.Gly2285Glu) single nucleotide variant Inborn genetic diseases [RCV004958467]|MYO18B-related disorder [RCV004741250]|not provided [RCV002153918] Chr22:26026828 [GRCh38]
Chr22:26422794 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.1227G>A (p.Arg409=) single nucleotide variant not provided [RCV002119354] Chr22:25769143 [GRCh38]
Chr22:26165110 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2522-7T>C single nucleotide variant not provided [RCV002181115] Chr22:25823498 [GRCh38]
Chr22:26219465 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.597T>C (p.Pro199=) single nucleotide variant not provided [RCV002144485] Chr22:25768513 [GRCh38]
Chr22:26164480 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7005G>A (p.Gly2335=) single nucleotide variant MYO18B-related disorder [RCV003960869]|not provided [RCV002154066] Chr22:26026979 [GRCh38]
Chr22:26422945 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.155C>T (p.Ala52Val) single nucleotide variant Inborn genetic diseases [RCV004651933]|not provided [RCV002182933] Chr22:25763346 [GRCh38]
Chr22:26159313 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.3825G>T (p.Val1275=) single nucleotide variant not provided [RCV002161635] Chr22:25851519 [GRCh38]
Chr22:26247486 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2786+11C>G single nucleotide variant not provided [RCV002198254] Chr22:25826510 [GRCh38]
Chr22:26222477 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7623G>A (p.Thr2541=) single nucleotide variant not provided [RCV002141601] Chr22:26027597 [GRCh38]
Chr22:26423563 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3948C>T (p.Ser1316=) single nucleotide variant not provided [RCV002198319] Chr22:25868382 [GRCh38]
Chr22:26264349 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6157-17G>C single nucleotide variant not provided [RCV002136023] Chr22:25992346 [GRCh38]
Chr22:26388312 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5202G>A (p.Lys1734=) single nucleotide variant not provided [RCV002181717] Chr22:25908375 [GRCh38]
Chr22:26304342 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3553-13C>G single nucleotide variant not provided [RCV002177918] Chr22:25847417 [GRCh38]
Chr22:26243384 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5833-15C>T single nucleotide variant not provided [RCV002154635] Chr22:25952271 [GRCh38]
Chr22:26348237 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4435-15A>T single nucleotide variant not provided [RCV002219118] Chr22:25891289 [GRCh38]
Chr22:26287256 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3552+13C>A single nucleotide variant not provided [RCV002139881] Chr22:25846296 [GRCh38]
Chr22:26242263 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5145G>A (p.Glu1715=) single nucleotide variant not provided [RCV002204436] Chr22:25903828 [GRCh38]
Chr22:26299795 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1869+15T>C single nucleotide variant not provided [RCV002204500] Chr22:25772525 [GRCh38]
Chr22:26168492 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1692+16C>T single nucleotide variant not provided [RCV002136472] Chr22:25771000 [GRCh38]
Chr22:26166967 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5124A>G (p.Glu1708=) single nucleotide variant not provided [RCV002161038] Chr22:25903807 [GRCh38]
Chr22:26299774 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4548C>T (p.Asp1516=) single nucleotide variant not provided [RCV002176518] Chr22:25895160 [GRCh38]
Chr22:26291127 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2211+19T>C single nucleotide variant not provided [RCV002199067] Chr22:25780217 [GRCh38]
Chr22:26176184 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1579+20C>T single nucleotide variant not provided [RCV002164481] Chr22:25770196 [GRCh38]
Chr22:26166163 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3885+18G>C single nucleotide variant not provided [RCV002164489] Chr22:25851597 [GRCh38]
Chr22:26247564 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6807G>A (p.Thr2269=) single nucleotide variant not provided [RCV002164496] Chr22:26026781 [GRCh38]
Chr22:26422747 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2677G>T (p.Asp893Tyr) single nucleotide variant Inborn genetic diseases [RCV004958503]|See cases [RCV002253185]|not provided [RCV003094133] Chr22:25823660 [GRCh38]
Chr22:26219627 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.147C>T (p.Ala49=) single nucleotide variant not provided [RCV002201105] Chr22:25763338 [GRCh38]
Chr22:26159305 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2940C>T (p.Tyr980=) single nucleotide variant not provided [RCV002203045] Chr22:25828929 [GRCh38]
Chr22:26224896 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4005G>A (p.Leu1335=) single nucleotide variant not provided [RCV002161210] Chr22:25874339 [GRCh38]
Chr22:26270306 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6621C>T (p.Asp2207=) single nucleotide variant not provided [RCV002184299] Chr22:26026595 [GRCh38]
Chr22:26422561 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2212-15C>T single nucleotide variant not provided [RCV002218034] Chr22:25781719 [GRCh38]
Chr22:26177686 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4824-5C>T single nucleotide variant not provided [RCV002155544] Chr22:25902608 [GRCh38]
Chr22:26298575 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1617G>A (p.Leu539=) single nucleotide variant not provided [RCV002203049] Chr22:25770909 [GRCh38]
Chr22:26166876 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6078_6079delinsTT (p.Arg2027Cys) indel not provided [RCV002203050] Chr22:25955286..25955287 [GRCh38]
Chr22:26351252..26351253 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5160G>C (p.Arg1720=) single nucleotide variant not provided [RCV002203127] Chr22:25908333 [GRCh38]
Chr22:26304300 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.198+17_198+19del microsatellite not provided [RCV002141923] Chr22:25763403..25763405 [GRCh38]
Chr22:26159370..26159372 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6333-15G>T single nucleotide variant not provided [RCV002143965] Chr22:26004703 [GRCh38]
Chr22:26400669 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6909G>A (p.Leu2303=) single nucleotide variant not provided [RCV002140399] Chr22:26026883 [GRCh38]
Chr22:26422849 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3952-15C>T single nucleotide variant not provided [RCV002180395] Chr22:25874271 [GRCh38]
Chr22:26270238 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4767C>T (p.Cys1589=) single nucleotide variant not provided [RCV002097837] Chr22:25898405 [GRCh38]
Chr22:26294372 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3886-7dup duplication MYO18B-related disorder [RCV004741211]|not provided [RCV002202883] Chr22:25868307..25868308 [GRCh38]
Chr22:26264274..26264275 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_032608.7(MYO18B):c.4224+9A>G single nucleotide variant not provided [RCV002162929] Chr22:25876341 [GRCh38]
Chr22:26272308 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4544-15G>T single nucleotide variant not provided [RCV002154073] Chr22:25895141 [GRCh38]
Chr22:26291108 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4383G>A (p.Glu1461=) single nucleotide variant not provided [RCV002099878] Chr22:25890824 [GRCh38]
Chr22:26286791 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.-110+4232A>C single nucleotide variant not provided [RCV002122740] Chr22:25746525 [GRCh38]
Chr22:26142492 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2673C>G (p.Leu891=) single nucleotide variant not provided [RCV002154137] Chr22:25823656 [GRCh38]
Chr22:26219623 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3910C>T (p.Leu1304=) single nucleotide variant not provided [RCV002098054] Chr22:25868344 [GRCh38]
Chr22:26264311 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2312+18G>A single nucleotide variant not provided [RCV002156216] Chr22:25781852 [GRCh38]
Chr22:26177819 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4947+21_4947+22del microsatellite not provided [RCV002161280] Chr22:25902755..25902756 [GRCh38]
Chr22:26298722..26298723 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2817C>G (p.Ala939=) single nucleotide variant not provided [RCV002182649] Chr22:25828806 [GRCh38]
Chr22:26224773 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5749-12_5749-11del deletion not provided [RCV002118028] Chr22:25950346..25950347 [GRCh38]
Chr22:26346312..26346313 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.2178C>T (p.Asn726=) single nucleotide variant not provided [RCV002175784] Chr22:25780165 [GRCh38]
Chr22:26176132 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.798C>T (p.Thr266=) single nucleotide variant not provided [RCV002203439] Chr22:25768714 [GRCh38]
Chr22:26164681 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5971-16TC[3] microsatellite not provided [RCV002180975] Chr22:25955162..25955163 [GRCh38]
Chr22:26351128..26351129 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4315-18C>T single nucleotide variant not provided [RCV002161570] Chr22:25890738 [GRCh38]
Chr22:26286705 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4695C>T (p.Asp1565=) single nucleotide variant MYO18B-related disorder [RCV003951053]|not provided [RCV002122000] Chr22:25898333 [GRCh38]
Chr22:26294300 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5365-12T>G single nucleotide variant not provided [RCV002198531] Chr22:25921245 [GRCh38]
Chr22:26317212 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3954T>G (p.Val1318=) single nucleotide variant not provided [RCV002219293] Chr22:25874288 [GRCh38]
Chr22:26270255 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4544-9G>A single nucleotide variant not provided [RCV002156736] Chr22:25895147 [GRCh38]
Chr22:26291114 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2212-15C>G single nucleotide variant not provided [RCV002161882] Chr22:25781719 [GRCh38]
Chr22:26177686 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6717G>A (p.Ser2239=) single nucleotide variant not provided [RCV002082413] Chr22:26026691 [GRCh38]
Chr22:26422657 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.45G>A (p.Arg15=) single nucleotide variant MYO18B-related disorder [RCV004741236]|not provided [RCV002141481] Chr22:25763236 [GRCh38]
Chr22:26159203 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1692+10C>T single nucleotide variant not provided [RCV002102709] Chr22:25770994 [GRCh38]
Chr22:26166961 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6157-11T>A single nucleotide variant not provided [RCV002158755] Chr22:25992352 [GRCh38]
Chr22:26388318 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2377-14C>T single nucleotide variant not provided [RCV002183547] Chr22:25797939 [GRCh38]
Chr22:26193906 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.585C>G (p.Thr195=) single nucleotide variant MYO18B-related disorder [RCV003923747]|not provided [RCV002118881] Chr22:25768501 [GRCh38]
Chr22:26164468 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1513-18C>T single nucleotide variant not provided [RCV002140109] Chr22:25770092 [GRCh38]
Chr22:26166059 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1692+19C>T single nucleotide variant not provided [RCV002138633] Chr22:25771003 [GRCh38]
Chr22:26166970 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.1458C>T (p.Asp486=) single nucleotide variant MYO18B-related disorder [RCV003958523]|not provided [RCV002180207] Chr22:25769374 [GRCh38]
Chr22:26165341 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2979+7C>G single nucleotide variant not provided [RCV002141766] Chr22:25828975 [GRCh38]
Chr22:26224942 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3553-11A>G single nucleotide variant not provided [RCV002143751] Chr22:25847419 [GRCh38]
Chr22:26243386 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.6444C>T (p.Ala2148=) single nucleotide variant not provided [RCV002201254] Chr22:26004829 [GRCh38]
Chr22:26400795 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3885+18G>A single nucleotide variant not provided [RCV002099625] Chr22:25851597 [GRCh38]
Chr22:26247564 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6156+18C>G single nucleotide variant not provided [RCV002175227] Chr22:25955382 [GRCh38]
Chr22:26351348 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3061-8C>T single nucleotide variant not provided [RCV002103204] Chr22:25835288 [GRCh38]
Chr22:26231255 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4003C>T (p.Leu1335=) single nucleotide variant not provided [RCV002140412] Chr22:25874337 [GRCh38]
Chr22:26270304 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1512+15G>A single nucleotide variant not provided [RCV002137235] Chr22:25769443 [GRCh38]
Chr22:26165410 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7602G>T (p.Ala2534=) single nucleotide variant MYO18B-related disorder [RCV003933617]|not provided [RCV002139143] Chr22:26027576 [GRCh38]
Chr22:26423542 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2211+13G>A single nucleotide variant not provided [RCV002143142] Chr22:25780211 [GRCh38]
Chr22:26176178 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2994G>A (p.Val998=) single nucleotide variant not provided [RCV002202051] Chr22:25832931 [GRCh38]
Chr22:26228898 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1190A>G (p.Gln397Arg) single nucleotide variant not provided [RCV002098383] Chr22:25769106 [GRCh38]
Chr22:26165073 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3966A>G (p.Ala1322=) single nucleotide variant not provided [RCV002200250] Chr22:25874300 [GRCh38]
Chr22:26270267 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3975C>T (p.Ile1325=) single nucleotide variant not provided [RCV002200261] Chr22:25874309 [GRCh38]
Chr22:26270276 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5403G>A (p.Arg1801=) single nucleotide variant not provided [RCV002159577] Chr22:25921295 [GRCh38]
Chr22:26317262 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4098A>T (p.Ala1366=) single nucleotide variant MYO18B-related disorder [RCV003913784]|not provided [RCV002104149] Chr22:25876206 [GRCh38]
Chr22:26272173 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.185C>T (p.Ser62Phe) single nucleotide variant Inborn genetic diseases [RCV003081089]|not provided [RCV002175900] Chr22:25763376 [GRCh38]
Chr22:26159343 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.7131G>A (p.Ser2377=) single nucleotide variant not provided [RCV002135897] Chr22:26027105 [GRCh38]
Chr22:26423071 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1692+17G>A single nucleotide variant not provided [RCV002081967] Chr22:25771001 [GRCh38]
Chr22:26166968 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3444C>T (p.Gly1148=) single nucleotide variant not provided [RCV002123407] Chr22:25846175 [GRCh38]
Chr22:26242142 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2232C>T (p.Ser744=) single nucleotide variant not provided [RCV002118367] Chr22:25781754 [GRCh38]
Chr22:26177721 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6030G>C (p.Ala2010=) single nucleotide variant not provided [RCV002141224] Chr22:25955238 [GRCh38]
Chr22:26351204 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2208C>T (p.Leu736=) single nucleotide variant not provided [RCV002160002] Chr22:25780195 [GRCh38]
Chr22:26176162 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2696-13T>C single nucleotide variant not provided [RCV002139845] Chr22:25826396 [GRCh38]
Chr22:26222363 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2766T>C (p.Ala922=) single nucleotide variant not provided [RCV002183845] Chr22:25826479 [GRCh38]
Chr22:26222446 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6099C>T (p.Ala2033=) single nucleotide variant not provided [RCV002156983] Chr22:25955307 [GRCh38]
Chr22:26351273 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5877C>T (p.Thr1959=) single nucleotide variant not provided [RCV002204381] Chr22:25952330 [GRCh38]
Chr22:26348296 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1206C>T (p.Ser402=) single nucleotide variant not provided [RCV002124202] Chr22:25769122 [GRCh38]
Chr22:26165089 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6039C>T (p.Ser2013=) single nucleotide variant not provided [RCV002162810] Chr22:25955247 [GRCh38]
Chr22:26351213 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2521+16C>T single nucleotide variant not provided [RCV002136687] Chr22:25798113 [GRCh38]
Chr22:26194080 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2313-17T>A single nucleotide variant not provided [RCV002201067] Chr22:25785411 [GRCh38]
Chr22:26181378 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5697C>T (p.Asp1899=) single nucleotide variant not provided [RCV002101419] Chr22:25947777 [GRCh38]
Chr22:26343743 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.864G>A (p.Glu288=) single nucleotide variant not provided [RCV002124168] Chr22:25768780 [GRCh38]
Chr22:26164747 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.963C>T (p.Phe321=) single nucleotide variant not provided [RCV002118849] Chr22:25768879 [GRCh38]
Chr22:26164846 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1692+17_1692+45del deletion not provided [RCV002160706] Chr22:25770986..25771014 [GRCh38]
Chr22:26166953..26166981 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7608C>T (p.Asp2536=) single nucleotide variant MYO18B-related disorder [RCV003913511]|not provided [RCV002082760] Chr22:26027582 [GRCh38]
Chr22:26423548 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5406A>G (p.Arg1802=) single nucleotide variant not provided [RCV002201137] Chr22:25921298 [GRCh38]
Chr22:26317265 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3885+10G>A single nucleotide variant not provided [RCV002180453] Chr22:25851589 [GRCh38]
Chr22:26247556 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.879G>A (p.Val293=) single nucleotide variant MYO18B-related disorder [RCV003911173]|not provided [RCV002099699] Chr22:25768795 [GRCh38]
Chr22:26164762 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7583C>G (p.Pro2528Arg) single nucleotide variant Inborn genetic diseases [RCV003358124]|not provided [RCV003110310] Chr22:26027557 [GRCh38]
Chr22:26423523 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.3035C>T (p.Ala1012Val) single nucleotide variant not provided [RCV003112428] Chr22:25832972 [GRCh38]
Chr22:26228939 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1033G>A (p.Ala345Thr) single nucleotide variant Inborn genetic diseases [RCV003162166]|not provided [RCV003113111] Chr22:25768949 [GRCh38]
Chr22:26164916 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4131C>T (p.Leu1377=) single nucleotide variant not provided [RCV003114137] Chr22:25876239 [GRCh38]
Chr22:26272206 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5930A>G (p.Asn1977Ser) single nucleotide variant not provided [RCV003115887] Chr22:25952383 [GRCh38]
Chr22:26348349 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5952G>C (p.Val1984=) single nucleotide variant not provided [RCV003116957] Chr22:25952405 [GRCh38]
Chr22:26348371 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4701C>T (p.Ala1567=) single nucleotide variant not provided [RCV003116135] Chr22:25898339 [GRCh38]
Chr22:26294306 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6492C>G (p.Asp2164Glu) single nucleotide variant MYO18B-related disorder [RCV004741449]|not provided [RCV003118326] Chr22:26026466 [GRCh38]
Chr22:26422432 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5688C>T (p.Ile1896=) single nucleotide variant not provided [RCV003115646] Chr22:25947768 [GRCh38]
Chr22:26343734 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3808C>T (p.Arg1270Cys) single nucleotide variant not provided [RCV003115741] Chr22:25851502 [GRCh38]
Chr22:26247469 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5830C>G (p.Gln1944Glu) single nucleotide variant not provided [RCV003115130] Chr22:25950448 [GRCh38]
Chr22:26346414 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3584G>A (p.Arg1195Gln) single nucleotide variant not provided [RCV003118567] Chr22:25847461 [GRCh38]
Chr22:26243428 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1947_1949delinsGGG (p.Asn649_Gln650delinsLysGly) indel not provided [RCV004784271] Chr22:25777660..25777662 [GRCh38]
Chr22:26173627..26173629 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_26157060)_(26247546_?)del deletion not provided [RCV003122882] Chr22:26157060..26247546 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_26157060)_(26159376_?)del deletion not provided [RCV003122883] Chr22:26157060..26159376 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_26346313)_(26348409_?)del deletion not provided [RCV003122884] Chr22:26346313..26348409 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_26164062)_(26168497_?)del deletion not provided [RCV003122885] Chr22:26164062..26168497 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_26142492)_(26423644_?)dup duplication not provided [RCV003122886] Chr22:26142492..26423644 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_26142492)_(26351350_?)dup duplication not provided [RCV003122887] Chr22:26142492..26351350 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_26294278)_(26320069_?)del deletion not provided [RCV003122888] Chr22:26294278..26320069 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.5910G>A (p.Ala1970=) single nucleotide variant not provided [RCV003121180] Chr22:25952363 [GRCh38]
Chr22:26348329 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2233C>T (p.Arg745Cys) single nucleotide variant not provided [RCV003121785] Chr22:25781755 [GRCh38]
Chr22:26177722 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.699dup (p.Gly234fs) duplication Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003130949] Chr22:25768609..25768610 [GRCh38]
Chr22:26164576..26164577 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.1402C>T (p.Gln468Ter) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV004795426] Chr22:25769318 [GRCh38]
Chr22:26165285 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.2357G>T (p.Gly786Val) single nucleotide variant not provided [RCV002281248] Chr22:25785472 [GRCh38]
Chr22:26181439 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5347G>A (p.Gly1783Arg) single nucleotide variant not provided [RCV002274563] Chr22:25911033 [GRCh38]
Chr22:26307000 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3110G>A (p.Trp1037Ter) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV002283417]|not provided [RCV003096362] Chr22:25835345 [GRCh38]
Chr22:26231312 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_032608.7(MYO18B):c.3775+1G>T single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003234969] Chr22:25847653 [GRCh38]
Chr22:26243620 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.4711G>T (p.Ala1571Ser) single nucleotide variant not provided [RCV002274765] Chr22:25898349 [GRCh38]
Chr22:26294316 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6825G>A (p.Trp2275Ter) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003236235]|not provided [RCV003779856] Chr22:26026799 [GRCh38]
Chr22:26422765 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_032608.7(MYO18B):c.3314C>T (p.Ala1105Val) single nucleotide variant not provided [RCV002297323] Chr22:25843840 [GRCh38]
Chr22:26239807 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3824T>G (p.Val1275Gly) single nucleotide variant not specified [RCV002283416] Chr22:25851518 [GRCh38]
Chr22:26247485 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7434A>G (p.Glu2478=) single nucleotide variant not provided [RCV002967771] Chr22:26027408 [GRCh38]
Chr22:26423374 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1879_1885delinsT (p.Gly627_Arg629delinsTrp) indel not provided [RCV003129056] Chr22:25777592..25777598 [GRCh38]
Chr22:26173559..26173565 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5209G>C (p.Glu1737Gln) single nucleotide variant not provided [RCV002299193] Chr22:25908382 [GRCh38]
Chr22:26304349 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4360G>A (p.Asp1454Asn) single nucleotide variant not provided [RCV002296271] Chr22:25890801 [GRCh38]
Chr22:26286768 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4178C>T (p.Pro1393Leu) single nucleotide variant not provided [RCV002295871] Chr22:25876286 [GRCh38]
Chr22:26272253 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2427C>A (p.Ala809=) single nucleotide variant not provided [RCV002881307] Chr22:25798003 [GRCh38]
Chr22:26193970 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.485C>G (p.Pro162Arg) single nucleotide variant not provided [RCV002750765] Chr22:25768401 [GRCh38]
Chr22:26164368 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7012A>C (p.Thr2338Pro) single nucleotide variant not provided [RCV002991428] Chr22:26026986 [GRCh38]
Chr22:26422952 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6744G>A (p.Ala2248=) single nucleotide variant not provided [RCV002615347] Chr22:26026718 [GRCh38]
Chr22:26422684 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1707G>A (p.Glu569=) single nucleotide variant not provided [RCV002685693] Chr22:25772348 [GRCh38]
Chr22:26168315 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2621A>G (p.His874Arg) single nucleotide variant not provided [RCV002967726] Chr22:25823604 [GRCh38]
Chr22:26219571 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1500A>G (p.Arg500=) single nucleotide variant not provided [RCV002685700] Chr22:25769416 [GRCh38]
Chr22:26165383 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4668+9T>C single nucleotide variant not provided [RCV002685740] Chr22:25895289 [GRCh38]
Chr22:26291256 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.524C>G (p.Ala175Gly) single nucleotide variant not provided [RCV002751228] Chr22:25768440 [GRCh38]
Chr22:26164407 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4668+7T>C single nucleotide variant not provided [RCV002880260] Chr22:25895287 [GRCh38]
Chr22:26291254 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3838C>G (p.Leu1280Val) single nucleotide variant not provided [RCV003012383] Chr22:25851532 [GRCh38]
Chr22:26247499 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.438G>A (p.Arg146=) single nucleotide variant not provided [RCV002685799] Chr22:25768354 [GRCh38]
Chr22:26164321 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.267G>T (p.Gln89His) single nucleotide variant not provided [RCV002730889] Chr22:25768183 [GRCh38]
Chr22:26164150 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7012A>G (p.Thr2338Ala) single nucleotide variant not provided [RCV003013791] Chr22:26026986 [GRCh38]
Chr22:26422952 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6287+12G>A single nucleotide variant not provided [RCV002881051] Chr22:25992505 [GRCh38]
Chr22:26388471 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1805C>G (p.Thr602Ser) single nucleotide variant not provided [RCV002904481] Chr22:25772446 [GRCh38]
Chr22:26168413 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7227C>T (p.Arg2409=) single nucleotide variant not provided [RCV003075058] Chr22:26027201 [GRCh38]
Chr22:26423167 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3276C>A (p.Asp1092Glu) single nucleotide variant not provided [RCV002839439] Chr22:25843802 [GRCh38]
Chr22:26239769 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5200_5208del (p.Lys1734_Arg1736del) deletion not provided [RCV002862457] Chr22:25908373..25908381 [GRCh38]
Chr22:26304340..26304348 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3542A>G (p.Lys1181Arg) single nucleotide variant not provided [RCV002816408] Chr22:25846273 [GRCh38]
Chr22:26242240 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2000C>T (p.Thr667Ile) single nucleotide variant Inborn genetic diseases [RCV002817154] Chr22:25777713 [GRCh38]
Chr22:26173680 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1513-17G>A single nucleotide variant not provided [RCV002681352] Chr22:25770093 [GRCh38]
Chr22:26166060 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2041G>A (p.Ala681Thr) single nucleotide variant not provided [RCV002903315] Chr22:25777754 [GRCh38]
Chr22:26173721 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7092A>G (p.Lys2364=) single nucleotide variant not provided [RCV003015879] Chr22:26027066 [GRCh38]
Chr22:26423032 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7100C>T (p.Ser2367Phe) single nucleotide variant not provided [RCV002690482] Chr22:26027074 [GRCh38]
Chr22:26423040 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.296C>T (p.Pro99Leu) single nucleotide variant not provided [RCV002617440] Chr22:25768212 [GRCh38]
Chr22:26164179 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3489C>T (p.Thr1163=) single nucleotide variant not provided [RCV002618196] Chr22:25846220 [GRCh38]
Chr22:26242187 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4668+19C>G single nucleotide variant not provided [RCV002775029] Chr22:25895299 [GRCh38]
Chr22:26291266 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6288-11C>A single nucleotide variant not provided [RCV002618409] Chr22:26003254 [GRCh38]
Chr22:26399220 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.939C>A (p.Ile313=) single nucleotide variant not provided [RCV002618704] Chr22:25768855 [GRCh38]
Chr22:26164822 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2622C>T (p.His874=) single nucleotide variant not provided [RCV003076036] Chr22:25823605 [GRCh38]
Chr22:26219572 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2293G>A (p.Gly765Arg) single nucleotide variant not provided [RCV002755853] Chr22:25781815 [GRCh38]
Chr22:26177782 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5168T>C (p.Leu1723Pro) single nucleotide variant Inborn genetic diseases [RCV002949239]|not provided [RCV002975379] Chr22:25908341 [GRCh38]
Chr22:26304308 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7549T>C (p.Ser2517Pro) single nucleotide variant not provided [RCV003034154] Chr22:26027523 [GRCh38]
Chr22:26423489 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3543G>T (p.Lys1181Asn) single nucleotide variant not provided [RCV002843116] Chr22:25846274 [GRCh38]
Chr22:26242241 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2376+6G>A single nucleotide variant not provided [RCV002636041] Chr22:25785497 [GRCh38]
Chr22:26181464 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5590A>G (p.Met1864Val) single nucleotide variant Inborn genetic diseases [RCV004067313]|not provided [RCV002948200] Chr22:25946209 [GRCh38]
Chr22:26342175 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5149-10G>C single nucleotide variant not provided [RCV002750281] Chr22:25908312 [GRCh38]
Chr22:26304279 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6080G>A (p.Arg2027His) single nucleotide variant Inborn genetic diseases [RCV002972841] Chr22:25955288 [GRCh38]
Chr22:26351254 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7641G>A (p.Glu2547=) single nucleotide variant not provided [RCV002974890] Chr22:26027615 [GRCh38]
Chr22:26423581 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.489C>T (p.Asp163=) single nucleotide variant not provided [RCV002996976] Chr22:25768405 [GRCh38]
Chr22:26164372 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1433del (p.Pro478fs) deletion not provided [RCV002881939] Chr22:25769348 [GRCh38]
Chr22:26165315 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.1006G>C (p.Asp336His) single nucleotide variant Inborn genetic diseases [RCV002865872] Chr22:25768922 [GRCh38]
Chr22:26164889 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.740C>T (p.Thr247Ile) single nucleotide variant not provided [RCV002755701] Chr22:25768656 [GRCh38]
Chr22:26164623 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4603C>T (p.Arg1535Cys) single nucleotide variant not provided [RCV002967597] Chr22:25895215 [GRCh38]
Chr22:26291182 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5149-7C>T single nucleotide variant MYO18B-related disorder [RCV003943595]|not provided [RCV002947415] Chr22:25908315 [GRCh38]
Chr22:26304282 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3122del (p.Glu1041fs) deletion not provided [RCV002690103] Chr22:25835357 [GRCh38]
Chr22:26231324 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.3128T>A (p.Val1043Asp) single nucleotide variant not provided [RCV003095809] Chr22:25835363 [GRCh38]
Chr22:26231330 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.355C>A (p.Gln119Lys) single nucleotide variant not provided [RCV002755356] Chr22:25768271 [GRCh38]
Chr22:26164238 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4080+12C>T single nucleotide variant not provided [RCV002614553] Chr22:25874426 [GRCh38]
Chr22:26270393 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3138G>A (p.Glu1046=) single nucleotide variant not provided [RCV002750714] Chr22:25835373 [GRCh38]
Chr22:26231340 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2239G>A (p.Ala747Thr) single nucleotide variant not provided [RCV002995027] Chr22:25781761 [GRCh38]
Chr22:26177728 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4225-18A>C single nucleotide variant not provided [RCV002730688] Chr22:25877941 [GRCh38]
Chr22:26273908 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.772C>A (p.Pro258Thr) single nucleotide variant not provided [RCV003033982] Chr22:25768688 [GRCh38]
Chr22:26164655 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6911G>T (p.Arg2304Met) single nucleotide variant not provided [RCV002972578] Chr22:26026885 [GRCh38]
Chr22:26422851 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1990G>A (p.Ala664Thr) single nucleotide variant Inborn genetic diseases [RCV002971032]|not provided [RCV002954239] Chr22:25777703 [GRCh38]
Chr22:26173670 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4507C>T (p.Gln1503Ter) single nucleotide variant not provided [RCV003012253] Chr22:25891376 [GRCh38]
Chr22:26287343 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.2377-19T>C single nucleotide variant not provided [RCV002862386] Chr22:25797934 [GRCh38]
Chr22:26193901 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4817A>G (p.Gln1606Arg) single nucleotide variant not provided [RCV003015433] Chr22:25898455 [GRCh38]
Chr22:26294422 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1870-20T>A single nucleotide variant not provided [RCV002839280] Chr22:25777563 [GRCh38]
Chr22:26173530 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2312+13G>A single nucleotide variant not provided [RCV002880605] Chr22:25781847 [GRCh38]
Chr22:26177814 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7504C>T (p.Pro2502Ser) single nucleotide variant not provided [RCV002750860] Chr22:26027478 [GRCh38]
Chr22:26423444 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3424G>C (p.Ala1142Pro) single nucleotide variant not provided [RCV003074327] Chr22:25846155 [GRCh38]
Chr22:26242122 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5632-19A>G single nucleotide variant not provided [RCV003013341] Chr22:25947693 [GRCh38]
Chr22:26343659 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5585A>G (p.Glu1862Gly) single nucleotide variant not provided [RCV002615553] Chr22:25946204 [GRCh38]
Chr22:26342170 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4834C>A (p.Gln1612Lys) single nucleotide variant Inborn genetic diseases [RCV003274160]|not provided [RCV003033275] Chr22:25902623 [GRCh38]
Chr22:26298590 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.40-15G>A single nucleotide variant not provided [RCV002685532] Chr22:25763216 [GRCh38]
Chr22:26159183 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3255T>C (p.Ile1085=) single nucleotide variant not provided [RCV002617563] Chr22:25843781 [GRCh38]
Chr22:26239748 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.822C>T (p.Gly274=) single nucleotide variant not provided [RCV002775355] Chr22:25768738 [GRCh38]
Chr22:26164705 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5909C>T (p.Ala1970Val) single nucleotide variant not provided [RCV002972612] Chr22:25952362 [GRCh38]
Chr22:26348328 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6332+12C>T single nucleotide variant not provided [RCV002685479] Chr22:26003321 [GRCh38]
Chr22:26399287 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.707A>G (p.Glu236Gly) single nucleotide variant Inborn genetic diseases [RCV002771784] Chr22:25768623 [GRCh38]
Chr22:26164590 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5251C>G (p.Gln1751Glu) single nucleotide variant not provided [RCV002842706] Chr22:25908424 [GRCh38]
Chr22:26304391 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2462G>A (p.Arg821Gln) single nucleotide variant not provided [RCV002618413] Chr22:25798038 [GRCh38]
Chr22:26194005 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3064C>T (p.Arg1022Cys) single nucleotide variant Inborn genetic diseases [RCV004070564]|not provided [RCV002616597]|not specified [RCV004700962] Chr22:25835299 [GRCh38]
Chr22:26231266 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3553-11A>C single nucleotide variant not provided [RCV002731053] Chr22:25847419 [GRCh38]
Chr22:26243386 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6902T>C (p.Leu2301Pro) single nucleotide variant not provided [RCV003034112] Chr22:26026876 [GRCh38]
Chr22:26422842 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2802C>T (p.His934=) single nucleotide variant not provided [RCV002997016] Chr22:25828791 [GRCh38]
Chr22:26224758 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6156+14C>T single nucleotide variant not provided [RCV002993511] Chr22:25955378 [GRCh38]
Chr22:26351344 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6227G>A (p.Arg2076Gln) single nucleotide variant Inborn genetic diseases [RCV003365757]|not provided [RCV002618152] Chr22:25992433 [GRCh38]
Chr22:26388399 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.17G>T (p.Arg6Leu) single nucleotide variant not provided [RCV002755886] Chr22:25761109 [GRCh38]
Chr22:26157076 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.890A>C (p.Asn297Thr) single nucleotide variant Inborn genetic diseases [RCV002818184] Chr22:25768806 [GRCh38]
Chr22:26164773 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1736T>C (p.Leu579Pro) single nucleotide variant not provided [RCV003034675] Chr22:25772377 [GRCh38]
Chr22:26168344 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3528G>A (p.Pro1176=) single nucleotide variant not provided [RCV002726504] Chr22:25846259 [GRCh38]
Chr22:26242226 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7015C>T (p.Leu2339=) single nucleotide variant not provided [RCV002685947] Chr22:26026989 [GRCh38]
Chr22:26422955 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7610G>T (p.Gly2537Val) single nucleotide variant not provided [RCV002839254] Chr22:26027584 [GRCh38]
Chr22:26423550 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.39+14A>T single nucleotide variant not provided [RCV002617630] Chr22:25761145 [GRCh38]
Chr22:26157112 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4984G>T (p.Val1662Leu) single nucleotide variant not provided [RCV002975190] Chr22:25903667 [GRCh38]
Chr22:26299634 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3597C>T (p.Ile1199=) single nucleotide variant not provided [RCV002771498] Chr22:25847474 [GRCh38]
Chr22:26243441 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3369-18T>G single nucleotide variant not provided [RCV002730749] Chr22:25846082 [GRCh38]
Chr22:26242049 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4410C>T (p.Ala1470=) single nucleotide variant not provided [RCV002881813] Chr22:25890851 [GRCh38]
Chr22:26286818 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.424_425del (p.Val142fs) deletion not provided [RCV002755430] Chr22:25768339..25768340 [GRCh38]
Chr22:26164306..26164307 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.4809G>A (p.Glu1603=) single nucleotide variant not provided [RCV002947824] Chr22:25898447 [GRCh38]
Chr22:26294414 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6288-3T>C single nucleotide variant not provided [RCV002968095] Chr22:26003262 [GRCh38]
Chr22:26399228 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2128C>T (p.His710Tyr) single nucleotide variant Inborn genetic diseases [RCV002773710] Chr22:25780115 [GRCh38]
Chr22:26176082 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5860T>A (p.Tyr1954Asn) single nucleotide variant not provided [RCV002662746] Chr22:25952313 [GRCh38]
Chr22:26348279 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3375G>C (p.Glu1125Asp) single nucleotide variant not provided [RCV002696267] Chr22:25846106 [GRCh38]
Chr22:26242073 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6542A>G (p.Asn2181Ser) single nucleotide variant Inborn genetic diseases [RCV004066602]|not provided [RCV002622600] Chr22:26026516 [GRCh38]
Chr22:26422482 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5897G>C (p.Ser1966Thr) single nucleotide variant not provided [RCV003001975] Chr22:25952350 [GRCh38]
Chr22:26348316 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4544C>G (p.Ala1515Gly) single nucleotide variant not provided [RCV003055802] Chr22:25895156 [GRCh38]
Chr22:26291123 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3904G>A (p.Glu1302Lys) single nucleotide variant not provided [RCV002590649] Chr22:25868338 [GRCh38]
Chr22:26264305 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6312C>T (p.Gly2104=) single nucleotide variant not provided [RCV002870862] Chr22:26003289 [GRCh38]
Chr22:26399255 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5138A>T (p.Gln1713Leu) single nucleotide variant Inborn genetic diseases [RCV002623043]|not provided [RCV002623042] Chr22:25903821 [GRCh38]
Chr22:26299788 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2242C>T (p.Arg748Trp) single nucleotide variant Inborn genetic diseases [RCV003162055]|not provided [RCV002637963] Chr22:25781764 [GRCh38]
Chr22:26177731 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4544-14A>C single nucleotide variant not provided [RCV002572155] Chr22:25895142 [GRCh38]
Chr22:26291109 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2376+20C>T single nucleotide variant not provided [RCV002571985] Chr22:25785511 [GRCh38]
Chr22:26181478 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.228C>T (p.Asn76=) single nucleotide variant not provided [RCV002640022] Chr22:25768144 [GRCh38]
Chr22:26164111 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1512+12G>A single nucleotide variant not provided [RCV002795787] Chr22:25769440 [GRCh38]
Chr22:26165407 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.457G>A (p.Val153Met) single nucleotide variant not provided [RCV003019040] Chr22:25768373 [GRCh38]
Chr22:26164340 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4435A>C (p.Ser1479Arg) single nucleotide variant not provided [RCV002622920] Chr22:25891304 [GRCh38]
Chr22:26287271 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.378G>C (p.Glu126Asp) single nucleotide variant not provided [RCV002623162] Chr22:25768294 [GRCh38]
Chr22:26164261 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3458C>G (p.Ala1153Gly) single nucleotide variant not provided [RCV002734929] Chr22:25846189 [GRCh38]
Chr22:26242156 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3124G>C (p.Glu1042Gln) single nucleotide variant not provided [RCV003021789] Chr22:25835359 [GRCh38]
Chr22:26231326 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3131A>T (p.His1044Leu) single nucleotide variant not provided [RCV002927974] Chr22:25835366 [GRCh38]
Chr22:26231333 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6848C>T (p.Thr2283Met) single nucleotide variant not provided [RCV002640172] Chr22:26026822 [GRCh38]
Chr22:26422788 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4021G>T (p.Val1341Phe) single nucleotide variant not provided [RCV003003001] Chr22:25874355 [GRCh38]
Chr22:26270322 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5232G>C (p.Glu1744Asp) single nucleotide variant not provided [RCV002979043] Chr22:25908405 [GRCh38]
Chr22:26304372 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7515G>T (p.Leu2505=) single nucleotide variant not provided [RCV002800288] Chr22:26027489 [GRCh38]
Chr22:26423455 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1160A>G (p.Glu387Gly) single nucleotide variant not provided [RCV003018712] Chr22:25769076 [GRCh38]
Chr22:26165043 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5519T>C (p.Leu1840Pro) single nucleotide variant not provided [RCV002695919] Chr22:25946138 [GRCh38]
Chr22:26342104 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7627C>G (p.Pro2543Ala) single nucleotide variant not provided [RCV002910000] Chr22:26027601 [GRCh38]
Chr22:26423567 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3221T>G (p.Leu1074Arg) single nucleotide variant not provided [RCV003018906] Chr22:25843747 [GRCh38]
Chr22:26239714 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4264G>C (p.Glu1422Gln) single nucleotide variant not provided [RCV002705255] Chr22:25877998 [GRCh38]
Chr22:26273965 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6592C>T (p.Arg2198Cys) single nucleotide variant Inborn genetic diseases [RCV002620814]|not provided [RCV002620815] Chr22:26026566 [GRCh38]
Chr22:26422532 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5991G>A (p.Arg1997=) single nucleotide variant not provided [RCV003037594] Chr22:25955199 [GRCh38]
Chr22:26351165 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.740C>A (p.Thr247Asn) single nucleotide variant not provided [RCV002621409] Chr22:25768656 [GRCh38]
Chr22:26164623 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.872A>G (p.Asn291Ser) single nucleotide variant not provided [RCV002999922] Chr22:25768788 [GRCh38]
Chr22:26164755 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2745G>A (p.Leu915=) single nucleotide variant not provided [RCV003019451] Chr22:25826458 [GRCh38]
Chr22:26222425 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2250G>A (p.Pro750=) single nucleotide variant not provided [RCV002760507] Chr22:25781772 [GRCh38]
Chr22:26177739 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5240G>T (p.Arg1747Leu) single nucleotide variant Inborn genetic diseases [RCV002924862] Chr22:25908413 [GRCh38]
Chr22:26304380 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6713T>G (p.Leu2238Arg) single nucleotide variant not provided [RCV003020241] Chr22:26026687 [GRCh38]
Chr22:26422653 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.159A>T (p.Arg53Ser) single nucleotide variant not provided [RCV002658803] Chr22:25763350 [GRCh38]
Chr22:26159317 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3129C>G (p.Val1043=) single nucleotide variant not provided [RCV002694831] Chr22:25835364 [GRCh38]
Chr22:26231331 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4213C>T (p.Arg1405Ter) single nucleotide variant not provided [RCV002949436] Chr22:25876321 [GRCh38]
Chr22:26272288 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.7294G>A (p.Asp2432Asn) single nucleotide variant Inborn genetic diseases [RCV002691985] Chr22:26027268 [GRCh38]
Chr22:26423234 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3714A>C (p.Pro1238=) single nucleotide variant not provided [RCV002690845] Chr22:25847591 [GRCh38]
Chr22:26243558 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5699A>G (p.Gln1900Arg) single nucleotide variant not provided [RCV002948972] Chr22:25947779 [GRCh38]
Chr22:26343745 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.523_524insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ala175fs) insertion not provided [RCV002637265] Chr22:25768438..25768439 [GRCh38]
Chr22:26164405..26164406 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.2271G>T (p.Leu757=) single nucleotide variant not provided [RCV002621203] Chr22:25781793 [GRCh38]
Chr22:26177760 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7666G>A (p.Asp2556Asn) single nucleotide variant not provided [RCV002948630] Chr22:26027640 [GRCh38]
Chr22:26423606 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2571G>A (p.Glu857=) single nucleotide variant not provided [RCV002999789] Chr22:25823554 [GRCh38]
Chr22:26219521 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3368+15G>A single nucleotide variant not provided [RCV002736432] Chr22:25843909 [GRCh38]
Chr22:26239876 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5820G>A (p.Lys1940=) single nucleotide variant not provided [RCV002760712] Chr22:25950438 [GRCh38]
Chr22:26346404 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4717C>T (p.Gln1573Ter) single nucleotide variant not provided [RCV002847507] Chr22:25898355 [GRCh38]
Chr22:26294322 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.6201G>A (p.Gln2067=) single nucleotide variant not provided [RCV002846745] Chr22:25992407 [GRCh38]
Chr22:26388373 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.348C>G (p.Asp116Glu) single nucleotide variant not provided [RCV002886106] Chr22:25768264 [GRCh38]
Chr22:26164231 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4175A>G (p.Gln1392Arg) single nucleotide variant not provided [RCV002760299] Chr22:25876283 [GRCh38]
Chr22:26272250 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.826G>T (p.Gly276Trp) single nucleotide variant Inborn genetic diseases [RCV004654027]|not provided [RCV002756776] Chr22:25768742 [GRCh38]
Chr22:26164709 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2454C>T (p.Ser818=) single nucleotide variant not provided [RCV003053156] Chr22:25798030 [GRCh38]
Chr22:26193997 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2648C>T (p.Thr883Met) single nucleotide variant Inborn genetic diseases [RCV002591399]|not provided [RCV002581599] Chr22:25823631 [GRCh38]
Chr22:26219598 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3663G>A (p.Gln1221=) single nucleotide variant not provided [RCV003019119] Chr22:25847540 [GRCh38]
Chr22:26243507 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7194C>G (p.Asp2398Glu) single nucleotide variant Inborn genetic diseases [RCV003358036]|not provided [RCV002949419] Chr22:26027168 [GRCh38]
Chr22:26423134 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2738C>T (p.Ser913Leu) single nucleotide variant Inborn genetic diseases [RCV002912706]|not provided [RCV002912705] Chr22:25826451 [GRCh38]
Chr22:26222418 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3454C>G (p.Gln1152Glu) single nucleotide variant not provided [RCV002619765] Chr22:25846185 [GRCh38]
Chr22:26242152 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3163G>A (p.Glu1055Lys) single nucleotide variant Inborn genetic diseases [RCV004652020]|not provided [RCV002695575] Chr22:25835398 [GRCh38]
Chr22:26231365 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2649G>A (p.Thr883=) single nucleotide variant not provided [RCV002592686] Chr22:25823632 [GRCh38]
Chr22:26219599 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2787-18T>C single nucleotide variant not provided [RCV002638659] Chr22:25828758 [GRCh38]
Chr22:26224725 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5038G>A (p.Glu1680Lys) single nucleotide variant not provided [RCV002570943] Chr22:25903721 [GRCh38]
Chr22:26299688 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1435C>T (p.Arg479Trp) single nucleotide variant Inborn genetic diseases [RCV004958829]|not provided [RCV002927154] Chr22:25769351 [GRCh38]
Chr22:26165318 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2688C>T (p.Thr896=) single nucleotide variant not provided [RCV002636397] Chr22:25823671 [GRCh38]
Chr22:26219638 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3725T>C (p.Val1242Ala) single nucleotide variant Inborn genetic diseases [RCV002884453] Chr22:25847602 [GRCh38]
Chr22:26243569 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1996A>G (p.Lys666Glu) single nucleotide variant Inborn genetic diseases [RCV002757390] Chr22:25777709 [GRCh38]
Chr22:26173676 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3578G>C (p.Arg1193Thr) single nucleotide variant not provided [RCV002592885] Chr22:25847455 [GRCh38]
Chr22:26243422 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1690C>A (p.Arg564=) single nucleotide variant not provided [RCV002885026] Chr22:25770982 [GRCh38]
Chr22:26166949 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7445G>A (p.Arg2482His) single nucleotide variant Inborn genetic diseases [RCV002693758] Chr22:26027419 [GRCh38]
Chr22:26423385 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.612C>T (p.Ala204=) single nucleotide variant not provided [RCV002694857] Chr22:25768528 [GRCh38]
Chr22:26164495 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6029C>T (p.Ala2010Val) single nucleotide variant not provided [RCV002621137] Chr22:25955237 [GRCh38]
Chr22:26351203 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3617C>G (p.Pro1206Arg) single nucleotide variant not provided [RCV002638917] Chr22:25847494 [GRCh38]
Chr22:26243461 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2429T>C (p.Met810Thr) single nucleotide variant not provided [RCV002785352] Chr22:25798005 [GRCh38]
Chr22:26193972 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5970+5G>A single nucleotide variant not provided [RCV002780420] Chr22:25952428 [GRCh38]
Chr22:26348394 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4349G>A (p.Arg1450His) single nucleotide variant not provided [RCV002979550] Chr22:25890790 [GRCh38]
Chr22:26286757 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2889T>G (p.Phe963Leu) single nucleotide variant Inborn genetic diseases [RCV003018983]|not provided [RCV003018982] Chr22:25828878 [GRCh38]
Chr22:26224845 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.802C>T (p.Pro268Ser) single nucleotide variant not provided [RCV003037260] Chr22:25768718 [GRCh38]
Chr22:26164685 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5451T>C (p.Leu1817=) single nucleotide variant not provided [RCV002695840] Chr22:25921343 [GRCh38]
Chr22:26317310 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6673T>C (p.Ser2225Pro) single nucleotide variant not provided [RCV002621188] Chr22:26026647 [GRCh38]
Chr22:26422613 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7260C>T (p.Gly2420=) single nucleotide variant not provided [RCV002913583] Chr22:26027234 [GRCh38]
Chr22:26423200 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3054C>G (p.Pro1018=) single nucleotide variant not provided [RCV003055227] Chr22:25832991 [GRCh38]
Chr22:26228958 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3958dup (p.Leu1320fs) duplication not provided [RCV002785223] Chr22:25874291..25874292 [GRCh38]
Chr22:26270258..26270259 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.3060G>A (p.Gln1020=) single nucleotide variant not provided [RCV002659517] Chr22:25832997 [GRCh38]
Chr22:26228964 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2556A>G (p.Ala852=) single nucleotide variant not provided [RCV002820871] Chr22:25823539 [GRCh38]
Chr22:26219506 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1625G>C (p.Gly542Ala) single nucleotide variant not provided [RCV003035660] Chr22:25770917 [GRCh38]
Chr22:26166884 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4939C>T (p.Gln1647Ter) single nucleotide variant not provided [RCV002949045] Chr22:25902728 [GRCh38]
Chr22:26298695 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.6133G>C (p.Ala2045Pro) single nucleotide variant not provided [RCV003021475] Chr22:25955341 [GRCh38]
Chr22:26351307 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3060+6A>G single nucleotide variant not provided [RCV002638842] Chr22:25833003 [GRCh38]
Chr22:26228970 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6997G>A (p.Gly2333Ser) single nucleotide variant not provided [RCV002571086] Chr22:26026971 [GRCh38]
Chr22:26422937 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.85C>T (p.Leu29Phe) single nucleotide variant not provided [RCV002978979] Chr22:25763276 [GRCh38]
Chr22:26159243 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6820G>A (p.Asp2274Asn) single nucleotide variant not provided [RCV002705944] Chr22:26026794 [GRCh38]
Chr22:26422760 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2102G>A (p.Arg701Gln) single nucleotide variant not provided [RCV002694799] Chr22:25780089 [GRCh38]
Chr22:26176056 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3238C>G (p.Pro1080Ala) single nucleotide variant not provided [RCV003038300] Chr22:25843764 [GRCh38]
Chr22:26239731 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6914T>G (p.Val2305Gly) single nucleotide variant not provided [RCV002622276] Chr22:26026888 [GRCh38]
Chr22:26422854 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.534C>A (p.Cys178Ter) single nucleotide variant not provided [RCV002706739] Chr22:25768450 [GRCh38]
Chr22:26164417 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.5950G>A (p.Val1984Met) single nucleotide variant not provided [RCV002640023] Chr22:25952403 [GRCh38]
Chr22:26348369 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4100A>G (p.Gln1367Arg) single nucleotide variant not provided [RCV002976504] Chr22:25876208 [GRCh38]
Chr22:26272175 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3754G>T (p.Ala1252Ser) single nucleotide variant not provided [RCV002795968] Chr22:25847631 [GRCh38]
Chr22:26243598 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.254C>G (p.Ser85Cys) single nucleotide variant Inborn genetic diseases [RCV003036396]|not provided [RCV003052518] Chr22:25768170 [GRCh38]
Chr22:26164137 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4315-17C>T single nucleotide variant not provided [RCV003036917] Chr22:25890739 [GRCh38]
Chr22:26286706 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2521+17G>A single nucleotide variant not provided [RCV002705736] Chr22:25798114 [GRCh38]
Chr22:26194081 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7457C>T (p.Ser2486Leu) single nucleotide variant not provided [RCV002638653] Chr22:26027431 [GRCh38]
Chr22:26423397 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.97A>T (p.Ile33Phe) single nucleotide variant not provided [RCV002571109] Chr22:25763288 [GRCh38]
Chr22:26159255 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2507C>T (p.Ala836Val) single nucleotide variant not provided [RCV002795297] Chr22:25798083 [GRCh38]
Chr22:26194050 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1717G>A (p.Val573Ile) single nucleotide variant Inborn genetic diseases [RCV003164810]|not provided [RCV002592929] Chr22:25772358 [GRCh38]
Chr22:26168325 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7412C>T (p.Ser2471Leu) single nucleotide variant not provided [RCV002570330] Chr22:26027386 [GRCh38]
Chr22:26423352 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2686A>G (p.Thr896Ala) single nucleotide variant not provided [RCV002658751] Chr22:25823669 [GRCh38]
Chr22:26219636 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5833-9T>C single nucleotide variant not provided [RCV002695627] Chr22:25952277 [GRCh38]
Chr22:26348243 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2727G>A (p.Glu909=) single nucleotide variant not provided [RCV003035735] Chr22:25826440 [GRCh38]
Chr22:26222407 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6603G>A (p.Lys2201=) single nucleotide variant not provided [RCV002706302] Chr22:26026577 [GRCh38]
Chr22:26422543 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4442A>G (p.His1481Arg) single nucleotide variant not provided [RCV002706309] Chr22:25891311 [GRCh38]
Chr22:26287278 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3027C>T (p.Thr1009=) single nucleotide variant not provided [RCV002691145] Chr22:25832964 [GRCh38]
Chr22:26228931 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1153G>C (p.Ala385Pro) single nucleotide variant not provided [RCV003037986] Chr22:25769069 [GRCh38]
Chr22:26165036 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.708G>A (p.Glu236=) single nucleotide variant not provided [RCV002913059] Chr22:25768624 [GRCh38]
Chr22:26164591 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6053G>A (p.Arg2018Gln) single nucleotide variant Inborn genetic diseases [RCV004071853]|not provided [RCV003079748] Chr22:25955261 [GRCh38]
Chr22:26351227 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5748+18G>T single nucleotide variant not provided [RCV002621887] Chr22:25947846 [GRCh38]
Chr22:26343812 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6401C>T (p.Ser2134Phe) single nucleotide variant not provided [RCV002695517] Chr22:26004786 [GRCh38]
Chr22:26400752 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.650G>A (p.Arg217Gln) single nucleotide variant not provided [RCV003002622] Chr22:25768566 [GRCh38]
Chr22:26164533 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1034C>T (p.Ala345Val) single nucleotide variant not provided [RCV002659509] Chr22:25768950 [GRCh38]
Chr22:26164917 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4315-15C>G single nucleotide variant not provided [RCV002571087] Chr22:25890741 [GRCh38]
Chr22:26286708 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7459G>A (p.Gly2487Arg) single nucleotide variant not provided [RCV002756771] Chr22:26027433 [GRCh38]
Chr22:26423399 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5923C>T (p.Leu1975=) single nucleotide variant not provided [RCV002706169] Chr22:25952376 [GRCh38]
Chr22:26348342 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6076C>A (p.Arg2026=) single nucleotide variant not provided [RCV002866265] Chr22:25955284 [GRCh38]
Chr22:26351250 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.77C>T (p.Pro26Leu) single nucleotide variant Inborn genetic diseases [RCV002868750] Chr22:25763268 [GRCh38]
Chr22:26159235 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6287+19G>A single nucleotide variant not provided [RCV002701212] Chr22:25992512 [GRCh38]
Chr22:26388478 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7430C>T (p.Thr2477Met) single nucleotide variant not provided [RCV002625566] Chr22:26027404 [GRCh38]
Chr22:26423370 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3595A>T (p.Ile1199Phe) single nucleotide variant not provided [RCV002700637] Chr22:25847472 [GRCh38]
Chr22:26243439 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4617C>A (p.Cys1539Ter) single nucleotide variant not provided [RCV003059653] Chr22:25895229 [GRCh38]
Chr22:26291196 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.2112C>T (p.Gly704=) single nucleotide variant not provided [RCV002876106] Chr22:25780099 [GRCh38]
Chr22:26176066 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6574G>C (p.Val2192Leu) single nucleotide variant not provided [RCV002985625] Chr22:26026548 [GRCh38]
Chr22:26422514 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4038T>C (p.Ala1346=) single nucleotide variant not provided [RCV002872405] Chr22:25874372 [GRCh38]
Chr22:26270339 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2965C>T (p.Gln989Ter) single nucleotide variant not provided [RCV003024888] Chr22:25828954 [GRCh38]
Chr22:26224921 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.2229G>T (p.Lys743Asn) single nucleotide variant not provided [RCV003008120] Chr22:25781751 [GRCh38]
Chr22:26177718 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6768G>T (p.Gly2256=) single nucleotide variant not provided [RCV003008168] Chr22:26026742 [GRCh38]
Chr22:26422708 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5518-15T>C single nucleotide variant not provided [RCV002626733] Chr22:25946122 [GRCh38]
Chr22:26342088 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6093G>A (p.Leu2031=) single nucleotide variant not provided [RCV002667614] Chr22:25955301 [GRCh38]
Chr22:26351267 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4849C>T (p.Leu1617=) single nucleotide variant not provided [RCV002626775] Chr22:25902638 [GRCh38]
Chr22:26298605 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5175C>A (p.Ile1725=) single nucleotide variant not provided [RCV003022983] Chr22:25908348 [GRCh38]
Chr22:26304315 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.903C>T (p.Asp301=) single nucleotide variant not provided [RCV002667560] Chr22:25768819 [GRCh38]
Chr22:26164786 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3910C>G (p.Leu1304Val) single nucleotide variant not provided [RCV002645660] Chr22:25868344 [GRCh38]
Chr22:26264311 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7405C>T (p.Gln2469Ter) single nucleotide variant not provided [RCV002576257] Chr22:26027379 [GRCh38]
Chr22:26423345 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.1340A>G (p.Glu447Gly) single nucleotide variant not provided [RCV002626326] Chr22:25769256 [GRCh38]
Chr22:26165223 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1225C>T (p.Arg409Trp) single nucleotide variant Inborn genetic diseases [RCV003250546]|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003130733]|not provided [RCV002626874] Chr22:25769141 [GRCh38]
Chr22:26165108 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.310A>G (p.Ile104Val) single nucleotide variant not provided [RCV002626343] Chr22:25768226 [GRCh38]
Chr22:26164193 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5514C>T (p.Ser1838=) single nucleotide variant not provided [RCV003007268] Chr22:25921406 [GRCh38]
Chr22:26317373 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1770G>A (p.Thr590=) single nucleotide variant MYO18B-related disorder [RCV004741299]|not provided [RCV002576002] Chr22:25772411 [GRCh38]
Chr22:26168378 [GRCh37]
Chr22:22q12.1		 likely benign
NC_000022.11:g.25992363_25992365del deletion not provided [RCV003023057] Chr22:25992361..25992363 [GRCh38]
Chr22:26388327..26388329 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3799A>G (p.Thr1267Ala) single nucleotide variant not provided [RCV003056810] Chr22:25851493 [GRCh38]
Chr22:26247460 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4201A>G (p.Thr1401Ala) single nucleotide variant Inborn genetic diseases [RCV003358002]|not provided [RCV002791173] Chr22:25876309 [GRCh38]
Chr22:26272276 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.835C>T (p.Pro279Ser) single nucleotide variant not provided [RCV002791419] Chr22:25768751 [GRCh38]
Chr22:26164718 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3566G>C (p.Ser1189Thr) single nucleotide variant not provided [RCV002740602] Chr22:25847443 [GRCh38]
Chr22:26243410 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5179C>T (p.Arg1727Trp) single nucleotide variant not provided [RCV002625900] Chr22:25908352 [GRCh38]
Chr22:26304319 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.120A>C (p.Gln40His) single nucleotide variant Inborn genetic diseases [RCV004064985]|not provided [RCV002852657] Chr22:25763311 [GRCh38]
Chr22:26159278 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2516G>T (p.Cys839Phe) single nucleotide variant not provided [RCV002663790] Chr22:25798092 [GRCh38]
Chr22:26194059 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3229T>A (p.Cys1077Ser) single nucleotide variant not provided [RCV003023225] Chr22:25843755 [GRCh38]
Chr22:26239722 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2745G>T (p.Leu915=) single nucleotide variant not provided [RCV002711637] Chr22:25826458 [GRCh38]
Chr22:26222425 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3092A>G (p.Asp1031Gly) single nucleotide variant not provided [RCV002596614] Chr22:25835327 [GRCh38]
Chr22:26231294 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1169A>G (p.Asp390Gly) single nucleotide variant not provided [RCV002985586] Chr22:25769085 [GRCh38]
Chr22:26165052 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3296C>G (p.Thr1099Arg) single nucleotide variant not provided [RCV002711643] Chr22:25843822 [GRCh38]
Chr22:26239789 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5518-20C>T single nucleotide variant not provided [RCV002667946] Chr22:25946117 [GRCh38]
Chr22:26342083 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.280G>A (p.Asp94Asn) single nucleotide variant not provided [RCV002958368] Chr22:25768196 [GRCh38]
Chr22:26164163 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1982G>A (p.Trp661Ter) single nucleotide variant not provided [RCV003083400] Chr22:25777695 [GRCh38]
Chr22:26173662 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.4456A>G (p.Lys1486Glu) single nucleotide variant Inborn genetic diseases [RCV002787827] Chr22:25891325 [GRCh38]
Chr22:26287292 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6198C>G (p.Leu2066=) single nucleotide variant not provided [RCV003039915] Chr22:25992404 [GRCh38]
Chr22:26388370 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6262G>A (p.Ala2088Thr) single nucleotide variant not provided [RCV002711427] Chr22:25992468 [GRCh38]
Chr22:26388434 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3184G>A (p.Glu1062Lys) single nucleotide variant Inborn genetic diseases [RCV003269174]|not provided [RCV002572343] Chr22:25835419 [GRCh38]
Chr22:26231386 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5857G>A (p.Glu1953Lys) single nucleotide variant not provided [RCV002595926] Chr22:25952310 [GRCh38]
Chr22:26348276 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7166C>T (p.Ser2389Phe) single nucleotide variant not provided [RCV002572864] Chr22:26027140 [GRCh38]
Chr22:26423106 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7615G>A (p.Glu2539Lys) single nucleotide variant not provided [RCV002573023] Chr22:26027589 [GRCh38]
Chr22:26423555 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5153G>C (p.Arg1718Pro) single nucleotide variant not provided [RCV002914980] Chr22:25908326 [GRCh38]
Chr22:26304293 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3982C>G (p.Leu1328Val) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV004813209]|not provided [RCV002710066] Chr22:25874316 [GRCh38]
Chr22:26270283 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5592G>C (p.Met1864Ile) single nucleotide variant not provided [RCV002711309] Chr22:25946211 [GRCh38]
Chr22:26342177 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2255G>A (p.Gly752Glu) single nucleotide variant Inborn genetic diseases [RCV002787970] Chr22:25781777 [GRCh38]
Chr22:26177744 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3951+9A>C single nucleotide variant not provided [RCV002710863] Chr22:25868394 [GRCh38]
Chr22:26264361 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5832+1G>A single nucleotide variant not provided [RCV002666575] Chr22:25950451 [GRCh38]
Chr22:26346417 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.6954T>C (p.Gly2318=) single nucleotide variant not provided [RCV002740983] Chr22:26026928 [GRCh38]
Chr22:26422894 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4948-8_4948-3del deletion not provided [RCV003040831] Chr22:25903620..25903625 [GRCh38]
Chr22:26299587..26299592 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7279A>C (p.Lys2427Gln) single nucleotide variant not provided [RCV002851487] Chr22:26027253 [GRCh38]
Chr22:26423219 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.24C>T (p.Ala8=) single nucleotide variant not provided [RCV002593958] Chr22:25761116 [GRCh38]
Chr22:26157083 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7103C>T (p.Pro2368Leu) single nucleotide variant Inborn genetic diseases [RCV004654029]|not provided [RCV002800601] Chr22:26027077 [GRCh38]
Chr22:26423043 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4034C>A (p.Ala1345Glu) single nucleotide variant not provided [RCV003005531] Chr22:25874368 [GRCh38]
Chr22:26270335 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5149-3C>T single nucleotide variant not provided [RCV002663233] Chr22:25908319 [GRCh38]
Chr22:26304286 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4293C>T (p.Asn1431=) single nucleotide variant not provided [RCV003057062] Chr22:25878027 [GRCh38]
Chr22:26273994 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6285G>C (p.Glu2095Asp) single nucleotide variant not provided [RCV002573805] Chr22:25992491 [GRCh38]
Chr22:26388457 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2700C>T (p.Leu900=) single nucleotide variant not provided [RCV003024101] Chr22:25826413 [GRCh38]
Chr22:26222380 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6272A>C (p.Asp2091Ala) single nucleotide variant not provided [RCV003039722] Chr22:25992478 [GRCh38]
Chr22:26388444 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7602G>C (p.Ala2534=) single nucleotide variant not provided [RCV002642404] Chr22:26027576 [GRCh38]
Chr22:26423542 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5858A>G (p.Glu1953Gly) single nucleotide variant not provided [RCV002572273] Chr22:25952311 [GRCh38]
Chr22:26348277 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1117G>A (p.Glu373Lys) single nucleotide variant not provided [RCV002625935] Chr22:25769033 [GRCh38]
Chr22:26165000 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5238C>T (p.Val1746=) single nucleotide variant not provided [RCV002575282] Chr22:25908411 [GRCh38]
Chr22:26304378 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1935G>A (p.Trp645Ter) single nucleotide variant not provided [RCV002711141] Chr22:25777648 [GRCh38]
Chr22:26173615 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.3368+11_3368+21del deletion not provided [RCV002594068] Chr22:25843899..25843909 [GRCh38]
Chr22:26239866..26239876 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4368C>T (p.Ala1456=) single nucleotide variant not provided [RCV002625714] Chr22:25890809 [GRCh38]
Chr22:26286776 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6212A>G (p.Glu2071Gly) single nucleotide variant not provided [RCV003085710] Chr22:25992418 [GRCh38]
Chr22:26388384 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3787C>T (p.His1263Tyr) single nucleotide variant not provided [RCV002595214] Chr22:25851481 [GRCh38]
Chr22:26247448 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5152C>T (p.Arg1718Cys) single nucleotide variant not provided [RCV002627095] Chr22:25908325 [GRCh38]
Chr22:26304292 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1750G>A (p.Glu584Lys) single nucleotide variant not provided [RCV002625514] Chr22:25772391 [GRCh38]
Chr22:26168358 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5670G>A (p.Ala1890=) single nucleotide variant not provided [RCV002766840] Chr22:25947750 [GRCh38]
Chr22:26343716 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.219C>T (p.Ser73=) single nucleotide variant not provided [RCV003023075] Chr22:25768135 [GRCh38]
Chr22:26164102 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.533G>T (p.Cys178Phe) single nucleotide variant not provided [RCV002642558] Chr22:25768449 [GRCh38]
Chr22:26164416 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5401C>T (p.Arg1801Trp) single nucleotide variant not provided [RCV002918730] Chr22:25921293 [GRCh38]
Chr22:26317260 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2522-14T>C single nucleotide variant not provided [RCV002894797] Chr22:25823491 [GRCh38]
Chr22:26219458 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5295T>G (p.Tyr1765Ter) single nucleotide variant not provided [RCV002791311] Chr22:25910981 [GRCh38]
Chr22:26306948 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.5782C>A (p.Gln1928Lys) single nucleotide variant not provided [RCV002917356] Chr22:25950400 [GRCh38]
Chr22:26346366 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3252G>A (p.Glu1084=) single nucleotide variant not provided [RCV002932046] Chr22:25843778 [GRCh38]
Chr22:26239745 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7162G>C (p.Glu2388Gln) single nucleotide variant not provided [RCV003059388] Chr22:26027136 [GRCh38]
Chr22:26423102 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5364+7G>C single nucleotide variant not provided [RCV002593933] Chr22:25911057 [GRCh38]
Chr22:26307024 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6901C>T (p.Leu2301Phe) single nucleotide variant not provided [RCV003025120] Chr22:26026875 [GRCh38]
Chr22:26422841 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6333-12A>G single nucleotide variant not provided [RCV002576009] Chr22:26004706 [GRCh38]
Chr22:26400672 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5173A>G (p.Ile1725Val) single nucleotide variant not provided [RCV002829330] Chr22:25908346 [GRCh38]
Chr22:26304313 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2787-19C>A single nucleotide variant not provided [RCV002667175] Chr22:25828757 [GRCh38]
Chr22:26224724 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3994C>T (p.Arg1332Ter) single nucleotide variant not provided [RCV003007599] Chr22:25874328 [GRCh38]
Chr22:26270295 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.118C>T (p.Gln40Ter) single nucleotide variant not provided [RCV003006448] Chr22:25763309 [GRCh38]
Chr22:26159276 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.4543+3G>A single nucleotide variant not provided [RCV002700681] Chr22:25891415 [GRCh38]
Chr22:26287382 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3885+17C>T single nucleotide variant not provided [RCV002575509] Chr22:25851596 [GRCh38]
Chr22:26247563 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3690T>C (p.Gly1230=) single nucleotide variant not provided [RCV002576145] Chr22:25847567 [GRCh38]
Chr22:26243534 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4983G>A (p.Gln1661=) single nucleotide variant not provided [RCV002667757] Chr22:25903666 [GRCh38]
Chr22:26299633 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5127C>T (p.Asn1709=) single nucleotide variant not provided [RCV003007931] Chr22:25903810 [GRCh38]
Chr22:26299777 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.180C>T (p.Val60=) single nucleotide variant not provided [RCV002667868] Chr22:25763371 [GRCh38]
Chr22:26159338 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2610C>G (p.Thr870=) single nucleotide variant not provided [RCV002872435] Chr22:25823593 [GRCh38]
Chr22:26219560 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.-110+4231_-110+4232delinsTC indel not provided [RCV002802123] Chr22:25746524..25746525 [GRCh38]
Chr22:26142491..26142492 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6148A>C (p.Met2050Leu) single nucleotide variant Inborn genetic diseases [RCV002665493] Chr22:25955356 [GRCh38]
Chr22:26351322 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6743C>T (p.Ala2248Val) single nucleotide variant not provided [RCV002766830] Chr22:26026717 [GRCh38]
Chr22:26422683 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5263C>T (p.His1755Tyr) single nucleotide variant not provided [RCV002790645] Chr22:25910949 [GRCh38]
Chr22:26306916 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5423A>C (p.His1808Pro) single nucleotide variant not provided [RCV002575726] Chr22:25921315 [GRCh38]
Chr22:26317282 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6567del (p.Asp2189fs) deletion not provided [RCV002710654] Chr22:26026541 [GRCh38]
Chr22:26422507 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.6156+19A>G single nucleotide variant not provided [RCV003057849] Chr22:25955383 [GRCh38]
Chr22:26351349 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3776-18C>G single nucleotide variant not provided [RCV002642996] Chr22:25851452 [GRCh38]
Chr22:26247419 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.786C>T (p.Asp262=) single nucleotide variant not provided [RCV002828275] Chr22:25768702 [GRCh38]
Chr22:26164669 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7458G>A (p.Ser2486=) single nucleotide variant not provided [RCV002596490] Chr22:26027432 [GRCh38]
Chr22:26423398 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6007A>G (p.Met2003Val) single nucleotide variant not provided [RCV002626876] Chr22:25955215 [GRCh38]
Chr22:26351181 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5615C>T (p.Thr1872Met) single nucleotide variant not provided [RCV002572893] Chr22:25946234 [GRCh38]
Chr22:26342200 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2786+9G>C single nucleotide variant not provided [RCV003024276] Chr22:25826508 [GRCh38]
Chr22:26222475 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6729G>A (p.Leu2243=) single nucleotide variant not provided [RCV003042337] Chr22:26026703 [GRCh38]
Chr22:26422669 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1690C>T (p.Arg564Trp) single nucleotide variant not provided [RCV002805485] Chr22:25770982 [GRCh38]
Chr22:26166949 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7148G>A (p.Arg2383Gln) single nucleotide variant not provided [RCV002786383] Chr22:26027122 [GRCh38]
Chr22:26423088 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3691G>A (p.Gly1231Arg) single nucleotide variant not provided [RCV002626503] Chr22:25847568 [GRCh38]
Chr22:26243535 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3880_3884del (p.Arg1294fs) deletion not provided [RCV003082577] Chr22:25851571..25851575 [GRCh38]
Chr22:26247538..26247542 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.5576C>G (p.Ala1859Gly) single nucleotide variant not provided [RCV002800858] Chr22:25946195 [GRCh38]
Chr22:26342161 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7636A>G (p.Arg2546Gly) single nucleotide variant not provided [RCV002740782] Chr22:26027610 [GRCh38]
Chr22:26423576 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2106C>A (p.Ala702=) single nucleotide variant not provided [RCV002852277] Chr22:25780093 [GRCh38]
Chr22:26176060 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3544C>T (p.Leu1182=) single nucleotide variant not provided [RCV003042314] Chr22:25846275 [GRCh38]
Chr22:26242242 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4823+20A>G single nucleotide variant not provided [RCV002701427] Chr22:25898481 [GRCh38]
Chr22:26294448 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6940G>T (p.Glu2314Ter) single nucleotide variant not provided [RCV002663570] Chr22:26026914 [GRCh38]
Chr22:26422880 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.2530A>C (p.Lys844Gln) single nucleotide variant not provided [RCV002872466] Chr22:25823513 [GRCh38]
Chr22:26219480 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3320C>T (p.Pro1107Leu) single nucleotide variant not provided [RCV003007813] Chr22:25843846 [GRCh38]
Chr22:26239813 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1771C>A (p.Leu591Ile) single nucleotide variant not provided [RCV002572619] Chr22:25772412 [GRCh38]
Chr22:26168379 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1579+6T>C single nucleotide variant not provided [RCV002741886] Chr22:25770182 [GRCh38]
Chr22:26166149 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4668+13G>A single nucleotide variant not provided [RCV003005909] Chr22:25895293 [GRCh38]
Chr22:26291260 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4173C>A (p.Leu1391=) single nucleotide variant not provided [RCV002894161] Chr22:25876281 [GRCh38]
Chr22:26272248 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3411T>C (p.Pro1137=) single nucleotide variant not provided [RCV002667208] Chr22:25846142 [GRCh38]
Chr22:26242109 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2551T>A (p.Trp851Arg) single nucleotide variant not provided [RCV002928175] Chr22:25823534 [GRCh38]
Chr22:26219501 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4085G>A (p.Arg1362His) single nucleotide variant not provided [RCV002985297] Chr22:25876193 [GRCh38]
Chr22:26272160 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1278G>A (p.Val426=) single nucleotide variant not provided [RCV003005524] Chr22:25769194 [GRCh38]
Chr22:26165161 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3886-20C>T single nucleotide variant not provided [RCV002645984] Chr22:25868300 [GRCh38]
Chr22:26264267 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2985T>A (p.Gly995=) single nucleotide variant not provided [RCV002631568] Chr22:25832922 [GRCh38]
Chr22:26228889 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5669C>T (p.Ala1890Val) single nucleotide variant not provided [RCV003090526] Chr22:25947749 [GRCh38]
Chr22:26343715 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3510G>A (p.Ala1170=) single nucleotide variant not provided [RCV002676254] Chr22:25846241 [GRCh38]
Chr22:26242208 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4656_4657delinsTG (p.Glu1552_Leu1553delinsAspVal) indel not provided [RCV003029818] Chr22:25895268..25895269 [GRCh38]
Chr22:26291235..26291236 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3802C>T (p.Arg1268Cys) single nucleotide variant not provided [RCV002582068] Chr22:25851496 [GRCh38]
Chr22:26247463 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2396C>T (p.Ala799Val) single nucleotide variant Inborn genetic diseases [RCV003063614]|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003492795]|not provided [RCV003063613] Chr22:25797972 [GRCh38]
Chr22:26193939 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5094T>C (p.Leu1698=) single nucleotide variant MYO18B-related disorder [RCV004741408]|not provided [RCV002599955] Chr22:25903777 [GRCh38]
Chr22:26299744 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6624C>T (p.Gly2208=) single nucleotide variant not provided [RCV003091781] Chr22:26026598 [GRCh38]
Chr22:26422564 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6509C>T (p.Ser2170Leu) single nucleotide variant not provided [RCV002933716] Chr22:26026483 [GRCh38]
Chr22:26422449 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3443G>A (p.Gly1148Asp) single nucleotide variant not provided [RCV002630962] Chr22:25846174 [GRCh38]
Chr22:26242141 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5641C>G (p.Gln1881Glu) single nucleotide variant not provided [RCV002602907] Chr22:25947721 [GRCh38]
Chr22:26343687 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5433G>C (p.Leu1811Phe) single nucleotide variant not provided [RCV003063955] Chr22:25921325 [GRCh38]
Chr22:26317292 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6975C>T (p.Ser2325=) single nucleotide variant not provided [RCV002942012] Chr22:26026949 [GRCh38]
Chr22:26422915 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2919G>A (p.Glu973=) single nucleotide variant not provided [RCV002577771] Chr22:25828908 [GRCh38]
Chr22:26224875 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.323A>T (p.Glu108Val) single nucleotide variant not provided [RCV003065975] Chr22:25768239 [GRCh38]
Chr22:26164206 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3557C>T (p.Ala1186Val) single nucleotide variant not provided [RCV002580968] Chr22:25847434 [GRCh38]
Chr22:26243401 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2103G>C (p.Arg701=) single nucleotide variant not provided [RCV002650226] Chr22:25780090 [GRCh38]
Chr22:26176057 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6838A>C (p.Ile2280Leu) single nucleotide variant Inborn genetic diseases [RCV002585246]|not provided [RCV002602724] Chr22:26026812 [GRCh38]
Chr22:26422778 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4654_4655delinsTT (p.Glu1552Leu) indel not provided [RCV003045130] Chr22:25895266..25895267 [GRCh38]
Chr22:26291233..26291234 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2441G>C (p.Gly814Ala) single nucleotide variant Inborn genetic diseases [RCV002807365] Chr22:25798017 [GRCh38]
Chr22:26193984 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4693G>A (p.Asp1565Asn) single nucleotide variant not provided [RCV003030026] Chr22:25898331 [GRCh38]
Chr22:26294298 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1116G>A (p.Gly372=) single nucleotide variant not provided [RCV002602314] Chr22:25769032 [GRCh38]
Chr22:26164999 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4677G>C (p.Glu1559Asp) single nucleotide variant not provided [RCV003065897] Chr22:25898315 [GRCh38]
Chr22:26294282 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6636C>T (p.Ala2212=) single nucleotide variant not provided [RCV002601898] Chr22:26026610 [GRCh38]
Chr22:26422576 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5878G>A (p.Val1960Met) single nucleotide variant not provided [RCV002966736] Chr22:25952331 [GRCh38]
Chr22:26348297 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.345C>T (p.Pro115=) single nucleotide variant not provided [RCV002581336] Chr22:25768261 [GRCh38]
Chr22:26164228 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5832+3A>G single nucleotide variant not provided [RCV002649458] Chr22:25950453 [GRCh38]
Chr22:26346419 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6019C>A (p.Leu2007Ile) single nucleotide variant not provided [RCV002676144] Chr22:25955227 [GRCh38]
Chr22:26351193 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2220T>G (p.Leu740=) single nucleotide variant not provided [RCV003087674] Chr22:25781742 [GRCh38]
Chr22:26177709 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3065G>T (p.Arg1022Leu) single nucleotide variant not provided [RCV003046006] Chr22:25835300 [GRCh38]
Chr22:26231267 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.440G>A (p.Gly147Asp) single nucleotide variant Inborn genetic diseases [RCV004064482]|not provided [RCV002580447] Chr22:25768356 [GRCh38]
Chr22:26164323 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3995G>T (p.Arg1332Leu) single nucleotide variant not provided [RCV002630820] Chr22:25874329 [GRCh38]
Chr22:26270296 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6054G>A (p.Arg2018=) single nucleotide variant not provided [RCV002810583] Chr22:25955262 [GRCh38]
Chr22:26351228 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.957A>T (p.Gly319=) single nucleotide variant not provided [RCV002895281] Chr22:25768873 [GRCh38]
Chr22:26164840 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6195C>A (p.Thr2065=) single nucleotide variant not provided [RCV002670982] Chr22:25992401 [GRCh38]
Chr22:26388367 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6691C>T (p.Arg2231Trp) single nucleotide variant not provided [RCV002649612] Chr22:26026665 [GRCh38]
Chr22:26422631 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2781C>T (p.Ile927=) single nucleotide variant not provided [RCV002810634] Chr22:25826494 [GRCh38]
Chr22:26222461 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.201C>T (p.Ile67=) single nucleotide variant not provided [RCV003011228] Chr22:25768117 [GRCh38]
Chr22:26164084 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6417T>C (p.Thr2139=) single nucleotide variant not provided [RCV003031531] Chr22:26004802 [GRCh38]
Chr22:26400768 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6544G>A (p.Val2182Ile) single nucleotide variant not provided [RCV002627682] Chr22:26026518 [GRCh38]
Chr22:26422484 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1850C>T (p.Ser617Leu) single nucleotide variant not provided [RCV002646772] Chr22:25772491 [GRCh38]
Chr22:26168458 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3284G>A (p.Arg1095Gln) single nucleotide variant not provided [RCV003061224] Chr22:25843810 [GRCh38]
Chr22:26239777 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4760A>T (p.Asp1587Val) single nucleotide variant not provided [RCV002670874] Chr22:25898398 [GRCh38]
Chr22:26294365 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3853A>G (p.Met1285Val) single nucleotide variant not provided [RCV002716186] Chr22:25851547 [GRCh38]
Chr22:26247514 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1512+4A>T single nucleotide variant not provided [RCV002646533] Chr22:25769432 [GRCh38]
Chr22:26165399 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4804C>T (p.Leu1602=) single nucleotide variant not provided [RCV002630265] Chr22:25898442 [GRCh38]
Chr22:26294409 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6673T>A (p.Ser2225Thr) single nucleotide variant not provided [RCV002746082] Chr22:26026647 [GRCh38]
Chr22:26422613 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4960G>A (p.Glu1654Lys) single nucleotide variant not provided [RCV002600461] Chr22:25903643 [GRCh38]
Chr22:26299610 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.876G>A (p.Thr292=) single nucleotide variant not provided [RCV002576850] Chr22:25768792 [GRCh38]
Chr22:26164759 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.905T>C (p.Val302Ala) single nucleotide variant not provided [RCV002922320] Chr22:25768821 [GRCh38]
Chr22:26164788 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4895A>C (p.Gln1632Pro) single nucleotide variant not provided [RCV002716768] Chr22:25902684 [GRCh38]
Chr22:26298651 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5176G>C (p.Glu1726Gln) single nucleotide variant not provided [RCV002963339] Chr22:25908349 [GRCh38]
Chr22:26304316 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6332+7T>G single nucleotide variant not provided [RCV002715407] Chr22:26003316 [GRCh38]
Chr22:26399282 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3802C>G (p.Arg1268Gly) single nucleotide variant not provided [RCV002578682] Chr22:25851496 [GRCh38]
Chr22:26247463 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.56A>G (p.Lys19Arg) single nucleotide variant not provided [RCV002649661] Chr22:25763247 [GRCh38]
Chr22:26159214 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.749C>T (p.Thr250Ile) single nucleotide variant not provided [RCV002716967] Chr22:25768665 [GRCh38]
Chr22:26164632 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.967G>A (p.Gly323Arg) single nucleotide variant not provided [RCV002834122] Chr22:25768883 [GRCh38]
Chr22:26164850 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7128G>T (p.Leu2376Phe) single nucleotide variant not provided [RCV003029364] Chr22:26027102 [GRCh38]
Chr22:26423068 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1583_1601del (p.Thr528fs) deletion not provided [RCV002629027] Chr22:25770874..25770892 [GRCh38]
Chr22:26166841..26166859 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.2628A>T (p.Arg876=) single nucleotide variant not provided [RCV002578709] Chr22:25823611 [GRCh38]
Chr22:26219578 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4944G>A (p.Leu1648=) single nucleotide variant not provided [RCV002937469] Chr22:25902733 [GRCh38]
Chr22:26298700 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5148+4G>C single nucleotide variant not provided [RCV002578971] Chr22:25903835 [GRCh38]
Chr22:26299802 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.539C>A (p.Thr180Asn) single nucleotide variant Inborn genetic diseases [RCV004067738]|not provided [RCV002716845] Chr22:25768455 [GRCh38]
Chr22:26164422 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6770T>C (p.Leu2257Pro) single nucleotide variant Inborn genetic diseases [RCV002920633] Chr22:26026744 [GRCh38]
Chr22:26422710 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7663G>A (p.Asp2555Asn) single nucleotide variant Inborn genetic diseases [RCV003365763]|not provided [RCV002649427] Chr22:26027637 [GRCh38]
Chr22:26423603 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1532A>G (p.Tyr511Cys) single nucleotide variant not provided [RCV002746413] Chr22:25770129 [GRCh38]
Chr22:26166096 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.797C>G (p.Thr266Ser) single nucleotide variant not provided [RCV002716336] Chr22:25768713 [GRCh38]
Chr22:26164680 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1396C>T (p.Pro466Ser) single nucleotide variant not provided [RCV002746766] Chr22:25769312 [GRCh38]
Chr22:26165279 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6062G>C (p.Ser2021Thr) single nucleotide variant not provided [RCV003026867] Chr22:25955270 [GRCh38]
Chr22:26351236 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5949G>A (p.Lys1983=) single nucleotide variant not provided [RCV002806004] Chr22:25952402 [GRCh38]
Chr22:26348368 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.491C>T (p.Ser164Leu) single nucleotide variant Inborn genetic diseases [RCV002934931] Chr22:25768407 [GRCh38]
Chr22:26164374 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3208+11A>G single nucleotide variant not provided [RCV002715588] Chr22:25835454 [GRCh38]
Chr22:26231421 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3886-15T>C single nucleotide variant not provided [RCV002645938] Chr22:25868305 [GRCh38]
Chr22:26264272 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1596A>G (p.Pro532=) single nucleotide variant not provided [RCV002716582] Chr22:25770888 [GRCh38]
Chr22:26166855 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3775+9C>T single nucleotide variant not provided [RCV002601352] Chr22:25847661 [GRCh38]
Chr22:26243628 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5999T>A (p.Leu2000Gln) single nucleotide variant not provided [RCV002746054] Chr22:25955207 [GRCh38]
Chr22:26351173 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4018A>T (p.Ile1340Phe) single nucleotide variant not provided [RCV003045110] Chr22:25874352 [GRCh38]
Chr22:26270319 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6955G>A (p.Gly2319Ser) single nucleotide variant not provided [RCV002746070] Chr22:26026929 [GRCh38]
Chr22:26422895 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4792C>T (p.Arg1598Ter) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV004526967]|not provided [RCV002647177] Chr22:25898430 [GRCh38]
Chr22:26294397 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.7435_7436delinsTT (p.Glu2479Leu) indel not provided [RCV002650675] Chr22:26027409..26027410 [GRCh38]
Chr22:26423375..26423376 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4314+15C>T single nucleotide variant not provided [RCV002580875] Chr22:25878063 [GRCh38]
Chr22:26274030 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.405G>A (p.Ala135=) single nucleotide variant not provided [RCV002601642] Chr22:25768321 [GRCh38]
Chr22:26164288 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6332+15G>A single nucleotide variant not provided [RCV002675661] Chr22:26003324 [GRCh38]
Chr22:26399290 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4434+11del deletion not provided [RCV002577844] Chr22:25890886 [GRCh38]
Chr22:26286853 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3296C>T (p.Thr1099Met) single nucleotide variant not provided [RCV002579879] Chr22:25843822 [GRCh38]
Chr22:26239789 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6821A>T (p.Asp2274Val) single nucleotide variant not provided [RCV002601176] Chr22:26026795 [GRCh38]
Chr22:26422761 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3909C>G (p.Thr1303=) single nucleotide variant not provided [RCV003044430] Chr22:25868343 [GRCh38]
Chr22:26264310 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5149-9C>T single nucleotide variant not provided [RCV002578502] Chr22:25908313 [GRCh38]
Chr22:26304280 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2544G>A (p.Arg848=) single nucleotide variant not provided [RCV003047144] Chr22:25823527 [GRCh38]
Chr22:26219494 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7078A>C (p.Ser2360Arg) single nucleotide variant Inborn genetic diseases [RCV004066629]|not provided [RCV002631878] Chr22:26027052 [GRCh38]
Chr22:26423018 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6895_6896dup (p.Asn2300fs) duplication not provided [RCV002577660] Chr22:26026867..26026868 [GRCh38]
Chr22:26422833..26422834 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.3368+9G>A single nucleotide variant not provided [RCV002598863] Chr22:25843903 [GRCh38]
Chr22:26239870 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5462T>C (p.Met1821Thr) single nucleotide variant not provided [RCV002650037] Chr22:25921354 [GRCh38]
Chr22:26317321 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4970A>G (p.Gln1657Arg) single nucleotide variant not provided [RCV003064793] Chr22:25903653 [GRCh38]
Chr22:26299620 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1334C>A (p.Ala445Glu) single nucleotide variant Inborn genetic diseases [RCV004068102]|not provided [RCV002966251] Chr22:25769250 [GRCh38]
Chr22:26165217 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2249C>T (p.Pro750Leu) single nucleotide variant not provided [RCV002627630] Chr22:25781771 [GRCh38]
Chr22:26177738 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3932T>C (p.Val1311Ala) single nucleotide variant not provided [RCV002646797] Chr22:25868366 [GRCh38]
Chr22:26264333 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4562G>A (p.Arg1521His) single nucleotide variant not provided [RCV002649744] Chr22:25895174 [GRCh38]
Chr22:26291141 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7130C>T (p.Ser2377Leu) single nucleotide variant not provided [RCV002576502] Chr22:26027104 [GRCh38]
Chr22:26423070 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5856C>T (p.Ile1952=) single nucleotide variant not provided [RCV002649525] Chr22:25952309 [GRCh38]
Chr22:26348275 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7154G>T (p.Arg2385Leu) single nucleotide variant Inborn genetic diseases [RCV002919932]|not provided [RCV003660988] Chr22:26027128 [GRCh38]
Chr22:26423094 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5593C>T (p.His1865Tyr) single nucleotide variant not provided [RCV002672028] Chr22:25946212 [GRCh38]
Chr22:26342178 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6057G>T (p.Glu2019Asp) single nucleotide variant not provided [RCV002649935] Chr22:25955265 [GRCh38]
Chr22:26351231 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.293C>G (p.Ser98Cys) single nucleotide variant not provided [RCV002961905] Chr22:25768209 [GRCh38]
Chr22:26164176 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7354C>T (p.Gln2452Ter) single nucleotide variant not provided [RCV002877021] Chr22:26027328 [GRCh38]
Chr22:26423294 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.4645G>T (p.Ala1549Ser) single nucleotide variant Inborn genetic diseases [RCV002939678] Chr22:25895257 [GRCh38]
Chr22:26291224 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2058C>T (p.Gly686=) single nucleotide variant not provided [RCV002715896] Chr22:25777771 [GRCh38]
Chr22:26173738 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4434+20C>T single nucleotide variant not provided [RCV002810496] Chr22:25890895 [GRCh38]
Chr22:26286862 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2584G>A (p.Glu862Lys) single nucleotide variant not provided [RCV002720956] Chr22:25823567 [GRCh38]
Chr22:26219534 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5568G>A (p.Val1856=) single nucleotide variant not provided [RCV002577192] Chr22:25946187 [GRCh38]
Chr22:26342153 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2836T>A (p.Ser946Thr) single nucleotide variant not provided [RCV002811786] Chr22:25828825 [GRCh38]
Chr22:26224792 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6733A>G (p.Ser2245Gly) single nucleotide variant Inborn genetic diseases [RCV004958890]|not provided [RCV002967136] Chr22:26026707 [GRCh38]
Chr22:26422673 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6340G>A (p.Val2114Ile) single nucleotide variant not provided [RCV002599041] Chr22:26004725 [GRCh38]
Chr22:26400691 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6030G>A (p.Ala2010=) single nucleotide variant not provided [RCV002599816] Chr22:25955238 [GRCh38]
Chr22:26351204 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4646C>T (p.Ala1549Val) single nucleotide variant not provided [RCV003044102] Chr22:25895258 [GRCh38]
Chr22:26291225 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3033G>A (p.Val1011=) single nucleotide variant not provided [RCV003086949] Chr22:25832970 [GRCh38]
Chr22:26228937 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5372A>G (p.His1791Arg) single nucleotide variant not provided [RCV002600284] Chr22:25921264 [GRCh38]
Chr22:26317231 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5632-4C>T single nucleotide variant not provided [RCV002672251] Chr22:25947708 [GRCh38]
Chr22:26343674 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4824-18G>A single nucleotide variant not provided [RCV002581153] Chr22:25902595 [GRCh38]
Chr22:26298562 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3549G>T (p.Gln1183His) single nucleotide variant not provided [RCV002646676] Chr22:25846280 [GRCh38]
Chr22:26242247 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1869+5G>A single nucleotide variant not provided [RCV003088661] Chr22:25772515 [GRCh38]
Chr22:26168482 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4074G>A (p.Lys1358=) single nucleotide variant not provided [RCV003088662] Chr22:25874408 [GRCh38]
Chr22:26270375 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7500G>A (p.Glu2500=) single nucleotide variant not provided [RCV002810635] Chr22:26027474 [GRCh38]
Chr22:26423440 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5832+17A>C single nucleotide variant not provided [RCV002631275] Chr22:25950467 [GRCh38]
Chr22:26346433 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.833G>A (p.Arg278Gln) single nucleotide variant Inborn genetic diseases [RCV002921414]|not provided [RCV005099873] Chr22:25768749 [GRCh38]
Chr22:26164716 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.3112G>A (p.Val1038Ile) single nucleotide variant Inborn genetic diseases [RCV004641998]|not provided [RCV002646275] Chr22:25835347 [GRCh38]
Chr22:26231314 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3422G>C (p.Arg1141Pro) single nucleotide variant not provided [RCV002770522] Chr22:25846153 [GRCh38]
Chr22:26242120 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6993A>G (p.Ser2331=) single nucleotide variant not provided [RCV002716343] Chr22:26026967 [GRCh38]
Chr22:26422933 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3189G>T (p.Lys1063Asn) single nucleotide variant not provided [RCV002576899] Chr22:25835424 [GRCh38]
Chr22:26231391 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2134C>T (p.Arg712Cys) single nucleotide variant not provided [RCV002576937] Chr22:25780121 [GRCh38]
Chr22:26176088 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.78C>T (p.Pro26=) single nucleotide variant not provided [RCV002716046] Chr22:25763269 [GRCh38]
Chr22:26159236 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1136G>C (p.Arg379Pro) single nucleotide variant not provided [RCV003048929] Chr22:25769052 [GRCh38]
Chr22:26165019 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7077G>A (p.Pro2359=) single nucleotide variant not provided [RCV003086557] Chr22:26027051 [GRCh38]
Chr22:26423017 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5299G>A (p.Glu1767Lys) single nucleotide variant not provided [RCV002597456] Chr22:25910985 [GRCh38]
Chr22:26306952 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2401G>A (p.Ala801Thr) single nucleotide variant not provided [RCV002716092] Chr22:25797977 [GRCh38]
Chr22:26193944 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3753G>A (p.Glu1251=) single nucleotide variant not provided [RCV002632611] Chr22:25847630 [GRCh38]
Chr22:26243597 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5892C>T (p.Ile1964=) single nucleotide variant not provided [RCV002627936] Chr22:25952345 [GRCh38]
Chr22:26348311 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7619G>A (p.Arg2540Gln) single nucleotide variant not provided [RCV003060565] Chr22:26027593 [GRCh38]
Chr22:26423559 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2884A>C (p.Thr962Pro) single nucleotide variant not provided [RCV002716118] Chr22:25828873 [GRCh38]
Chr22:26224840 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5365-17C>T single nucleotide variant not provided [RCV002680976] Chr22:25921240 [GRCh38]
Chr22:26317207 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1006G>A (p.Asp336Asn) single nucleotide variant not provided [RCV002584157] Chr22:25768922 [GRCh38]
Chr22:26164889 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7614C>T (p.Gly2538=) single nucleotide variant not provided [RCV002725356] Chr22:26027588 [GRCh38]
Chr22:26423554 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.199-19G>T single nucleotide variant not provided [RCV002605099] Chr22:25768096 [GRCh38]
Chr22:26164063 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3166C>T (p.Arg1056Cys) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003492801]|not provided [RCV002582425] Chr22:25835401 [GRCh38]
Chr22:26231368 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2313-20G>T single nucleotide variant not provided [RCV002605531] Chr22:25785408 [GRCh38]
Chr22:26181375 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5700G>C (p.Gln1900His) single nucleotide variant not provided [RCV002605388] Chr22:25947780 [GRCh38]
Chr22:26343746 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2858G>T (p.Arg953Leu) single nucleotide variant not provided [RCV002658007] Chr22:25828847 [GRCh38]
Chr22:26224814 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2979+15G>T single nucleotide variant not provided [RCV002658009] Chr22:25828983 [GRCh38]
Chr22:26224950 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6332+6T>C single nucleotide variant not provided [RCV002658187] Chr22:26003315 [GRCh38]
Chr22:26399281 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4399C>T (p.Arg1467Trp) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003140140]|not provided [RCV002654723] Chr22:25890840 [GRCh38]
Chr22:26286807 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4547A>T (p.Asp1516Val) single nucleotide variant not provided [RCV002654253] Chr22:25895159 [GRCh38]
Chr22:26291126 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1899T>C (p.Pro633=) single nucleotide variant not provided [RCV002943548] Chr22:25777612 [GRCh38]
Chr22:26173579 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1016G>C (p.Gly339Ala) single nucleotide variant Inborn genetic diseases [RCV002944378]|not provided [RCV003708719] Chr22:25768932 [GRCh38]
Chr22:26164899 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.523_524insGGGGGGGGGGGGGGGGGGG (p.Ala175fs) insertion not provided [RCV002633849] Chr22:25768438..25768439 [GRCh38]
Chr22:26164405..26164406 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.3368+16G>T single nucleotide variant not provided [RCV002721944] Chr22:25843910 [GRCh38]
Chr22:26239877 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6100G>A (p.Asp2034Asn) single nucleotide variant not provided [RCV002606379] Chr22:25955308 [GRCh38]
Chr22:26351274 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.529C>T (p.Pro177Ser) single nucleotide variant not provided [RCV002633465] Chr22:25768445 [GRCh38]
Chr22:26164412 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6804C>T (p.Ser2268=) single nucleotide variant MYO18B-related disorder [RCV003946303]|not provided [RCV002603669] Chr22:26026778 [GRCh38]
Chr22:26422744 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3886-6C>T single nucleotide variant not provided [RCV002583630] Chr22:25868314 [GRCh38]
Chr22:26264281 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6362C>G (p.Pro2121Arg) single nucleotide variant not provided [RCV003049860] Chr22:26004747 [GRCh38]
Chr22:26400713 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2439C>T (p.Leu813=) single nucleotide variant not provided [RCV002657792] Chr22:25798015 [GRCh38]
Chr22:26193982 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5001C>G (p.Asp1667Glu) single nucleotide variant not provided [RCV002815108] Chr22:25903684 [GRCh38]
Chr22:26299651 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3964G>T (p.Ala1322Ser) single nucleotide variant not provided [RCV002657955] Chr22:25874298 [GRCh38]
Chr22:26270265 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6332T>G (p.Met2111Arg) single nucleotide variant not provided [RCV002657956] Chr22:26003309 [GRCh38]
Chr22:26399275 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6372C>T (p.Ser2124=) single nucleotide variant not provided [RCV002635672] Chr22:26004757 [GRCh38]
Chr22:26400723 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4111A>G (p.Lys1371Glu) single nucleotide variant not provided [RCV003052042] Chr22:25876219 [GRCh38]
Chr22:26272186 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2333A>G (p.Gln778Arg) single nucleotide variant not provided [RCV002583265] Chr22:25785448 [GRCh38]
Chr22:26181415 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3379C>T (p.Arg1127Trp) single nucleotide variant not provided [RCV002725828] Chr22:25846110 [GRCh38]
Chr22:26242077 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6753G>A (p.Ser2251=) single nucleotide variant MYO18B-related disorder [RCV003906486]|not provided [RCV003093597] Chr22:26026727 [GRCh38]
Chr22:26422693 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3213C>T (p.Ser1071=) single nucleotide variant not provided [RCV003067504] Chr22:25843739 [GRCh38]
Chr22:26239706 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4607T>A (p.Leu1536Gln) single nucleotide variant not provided [RCV003032266] Chr22:25895219 [GRCh38]
Chr22:26291186 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1674T>A (p.Asp558Glu) single nucleotide variant not provided [RCV002725699] Chr22:25770966 [GRCh38]
Chr22:26166933 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.327C>T (p.Ser109=) single nucleotide variant not provided [RCV002582362] Chr22:25768243 [GRCh38]
Chr22:26164210 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1882C>T (p.Arg628Cys) single nucleotide variant not provided [RCV002584776] Chr22:25777595 [GRCh38]
Chr22:26173562 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3239C>T (p.Pro1080Leu) single nucleotide variant not provided [RCV002606419] Chr22:25843765 [GRCh38]
Chr22:26239732 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.502G>C (p.Glu168Gln) single nucleotide variant not provided [RCV003071512] Chr22:25768418 [GRCh38]
Chr22:26164385 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.199-14G>A single nucleotide variant not provided [RCV002608369] Chr22:25768101 [GRCh38]
Chr22:26164068 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.670C>T (p.Pro224Ser) single nucleotide variant not provided [RCV002588940] Chr22:25768586 [GRCh38]
Chr22:26164553 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1633A>G (p.Arg545Gly) single nucleotide variant not provided [RCV002635304] Chr22:25770925 [GRCh38]
Chr22:26166892 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3449C>T (p.Ser1150Phe) single nucleotide variant not provided [RCV002608407] Chr22:25846180 [GRCh38]
Chr22:26242147 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6290T>G (p.Val2097Gly) single nucleotide variant not provided [RCV002609589] Chr22:26003267 [GRCh38]
Chr22:26399233 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.511C>T (p.His171Tyr) single nucleotide variant not provided [RCV003070383] Chr22:25768427 [GRCh38]
Chr22:26164394 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4564T>G (p.Phe1522Val) single nucleotide variant not provided [RCV002634818] Chr22:25895176 [GRCh38]
Chr22:26291143 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5374C>T (p.Arg1792Trp) single nucleotide variant Inborn genetic diseases [RCV004068770]|not provided [RCV002610162] Chr22:25921266 [GRCh38]
Chr22:26317233 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3927G>A (p.Lys1309=) single nucleotide variant not provided [RCV002583740] Chr22:25868361 [GRCh38]
Chr22:26264328 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2588A>T (p.Tyr863Phe) single nucleotide variant not provided [RCV002604546] Chr22:25823571 [GRCh38]
Chr22:26219538 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.75G>A (p.Ser25=) single nucleotide variant MYO18B-related disorder [RCV003900870]|not provided [RCV002655047] Chr22:25763266 [GRCh38]
Chr22:26159233 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.3776-11T>C single nucleotide variant not provided [RCV002653215] Chr22:25851459 [GRCh38]
Chr22:26247426 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4087C>T (p.Arg1363Ter) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003388150]|not provided [RCV003073205] Chr22:25876195 [GRCh38]
Chr22:26272162 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.5046C>T (p.Cys1682=) single nucleotide variant not provided [RCV002606057] Chr22:25903729 [GRCh38]
Chr22:26299696 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1693-9G>T single nucleotide variant not provided [RCV002604714] Chr22:25772325 [GRCh38]
Chr22:26168292 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3297G>C (p.Thr1099=) single nucleotide variant not provided [RCV002653369] Chr22:25843823 [GRCh38]
Chr22:26239790 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.820G>A (p.Gly274Ser) single nucleotide variant not provided [RCV002606229] Chr22:25768736 [GRCh38]
Chr22:26164703 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5631+11C>T single nucleotide variant not provided [RCV002680905] Chr22:25946261 [GRCh38]
Chr22:26342227 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2857C>T (p.Arg953Trp) single nucleotide variant not provided [RCV002606295] Chr22:25828846 [GRCh38]
Chr22:26224813 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3903G>A (p.Leu1301=) single nucleotide variant not provided [RCV002587404] Chr22:25868337 [GRCh38]
Chr22:26264304 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6527G>A (p.Arg2176Lys) single nucleotide variant not provided [RCV002587442] Chr22:26026501 [GRCh38]
Chr22:26422467 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4024C>T (p.Leu1342Phe) single nucleotide variant not provided [RCV002603237] Chr22:25874358 [GRCh38]
Chr22:26270325 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4285C>T (p.Arg1429Trp) single nucleotide variant not provided [RCV002942484] Chr22:25878019 [GRCh38]
Chr22:26273986 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6507G>C (p.Gln2169His) single nucleotide variant not provided [RCV002607434] Chr22:26026481 [GRCh38]
Chr22:26422447 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4993C>A (p.Leu1665Ile) single nucleotide variant not provided [RCV002653138] Chr22:25903676 [GRCh38]
Chr22:26299643 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2505G>A (p.Ala835=) single nucleotide variant not provided [RCV002583750] Chr22:25798081 [GRCh38]
Chr22:26194048 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5294A>G (p.Tyr1765Cys) single nucleotide variant not provided [RCV002607590] Chr22:25910980 [GRCh38]
Chr22:26306947 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6287+1G>A single nucleotide variant not provided [RCV002585180] Chr22:25992494 [GRCh38]
Chr22:26388460 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.3289G>T (p.Asp1097Tyr) single nucleotide variant not provided [RCV002588884] Chr22:25843815 [GRCh38]
Chr22:26239782 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7252C>A (p.Pro2418Thr) single nucleotide variant not provided [RCV003066777] Chr22:26027226 [GRCh38]
Chr22:26423192 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6622G>A (p.Gly2208Ser) single nucleotide variant not provided [RCV002583944] Chr22:26026596 [GRCh38]
Chr22:26422562 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.549C>T (p.Pro183=) single nucleotide variant not provided [RCV002611633] Chr22:25768465 [GRCh38]
Chr22:26164432 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5863C>T (p.Leu1955=) single nucleotide variant not provided [RCV002680938] Chr22:25952316 [GRCh38]
Chr22:26348282 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5869C>A (p.Gln1957Lys) single nucleotide variant not provided [RCV003051606] Chr22:25952322 [GRCh38]
Chr22:26348288 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5632-7C>T single nucleotide variant not provided [RCV002605157] Chr22:25947705 [GRCh38]
Chr22:26343671 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.339C>T (p.Arg113=) single nucleotide variant not provided [RCV002585834] Chr22:25768255 [GRCh38]
Chr22:26164222 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5806A>C (p.Lys1936Gln) single nucleotide variant Inborn genetic diseases [RCV004958606]|not provided [RCV002589643] Chr22:25950424 [GRCh38]
Chr22:26346390 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5395C>T (p.Arg1799Ter) single nucleotide variant not provided [RCV002606670] Chr22:25921287 [GRCh38]
Chr22:26317254 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.3208+13G>C single nucleotide variant not provided [RCV002587703] Chr22:25835456 [GRCh38]
Chr22:26231423 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5473A>G (p.Lys1825Glu) single nucleotide variant not provided [RCV002587820] Chr22:25921365 [GRCh38]
Chr22:26317332 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2799C>T (p.Ser933=) single nucleotide variant not provided [RCV002587841] Chr22:25828788 [GRCh38]
Chr22:26224755 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.542C>T (p.Ser181Phe) single nucleotide variant not provided [RCV002721416] Chr22:25768458 [GRCh38]
Chr22:26164425 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6209T>C (p.Leu2070Pro) single nucleotide variant not provided [RCV002721458] Chr22:25992415 [GRCh38]
Chr22:26388381 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2212A>G (p.Thr738Ala) single nucleotide variant not provided [RCV002583475] Chr22:25781734 [GRCh38]
Chr22:26177701 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.549dup (p.Ala184fs) duplication not provided [RCV002607023] Chr22:25768459..25768460 [GRCh38]
Chr22:26164426..26164427 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.6248C>T (p.Ala2083Val) single nucleotide variant not provided [RCV004781141] Chr22:25992454 [GRCh38]
Chr22:26388420 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1658C>G (p.Thr553Ser) single nucleotide variant Inborn genetic diseases [RCV003281297] Chr22:25770950 [GRCh38]
Chr22:26166917 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.39+5G>T single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV004795427] Chr22:25761136 [GRCh38]
Chr22:26157103 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.991C>T (p.Pro331Ser) single nucleotide variant Inborn genetic diseases [RCV003280406] Chr22:25768907 [GRCh38]
Chr22:26164874 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2872G>A (p.Asp958Asn) single nucleotide variant Inborn genetic diseases [RCV003201105] Chr22:25828861 [GRCh38]
Chr22:26224828 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.361A>G (p.Thr121Ala) single nucleotide variant Inborn genetic diseases [RCV003210511] Chr22:25768277 [GRCh38]
Chr22:26164244 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1829T>C (p.Val610Ala) single nucleotide variant Inborn genetic diseases [RCV003203830] Chr22:25772470 [GRCh38]
Chr22:26168437 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7141C>T (p.Arg2381Cys) single nucleotide variant Inborn genetic diseases [RCV003214198] Chr22:26027115 [GRCh38]
Chr22:26423081 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1301A>G (p.Lys434Arg) single nucleotide variant Inborn genetic diseases [RCV003194863] Chr22:25769217 [GRCh38]
Chr22:26165184 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5761A>G (p.Ile1921Val) single nucleotide variant Inborn genetic diseases [RCV003208918] Chr22:25950379 [GRCh38]
Chr22:26346345 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1438A>G (p.Ile480Val) single nucleotide variant Inborn genetic diseases [RCV003195898] Chr22:25769354 [GRCh38]
Chr22:26165321 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1810A>G (p.Thr604Ala) single nucleotide variant Inborn genetic diseases [RCV003193338] Chr22:25772451 [GRCh38]
Chr22:26168418 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6049C>A (p.Gln2017Lys) single nucleotide variant Inborn genetic diseases [RCV003204365] Chr22:25955257 [GRCh38]
Chr22:26351223 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2503G>A (p.Ala835Thr) single nucleotide variant Inborn genetic diseases [RCV003274335]|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003132794] Chr22:25798079 [GRCh38]
Chr22:26194046 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3065G>A (p.Arg1022His) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003132793]|not provided [RCV005099316] Chr22:25835300 [GRCh38]
Chr22:26231267 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5971-1045_5971-1042delinsGCCA indel Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003142637] Chr22:25954134..25954137 [GRCh38]
Chr22:26350100..26350103 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6802T>C (p.Ser2268Pro) single nucleotide variant Inborn genetic diseases [RCV003205200] Chr22:26026776 [GRCh38]
Chr22:26422742 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3043G>C (p.Asp1015His) single nucleotide variant Inborn genetic diseases [RCV003194660] Chr22:25832980 [GRCh38]
Chr22:26228947 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7304G>A (p.Arg2435His) single nucleotide variant not provided [RCV003325140] Chr22:26027278 [GRCh38]
Chr22:26423244 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1536G>C (p.Glu512Asp) single nucleotide variant not provided [RCV003325143] Chr22:25770133 [GRCh38]
Chr22:26166100 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.881A>G (p.Glu294Gly) single nucleotide variant not provided [RCV003852873] Chr22:25768797 [GRCh38]
Chr22:26164764 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2848C>T (p.Gln950Ter) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003331992] Chr22:25828837 [GRCh38]
Chr22:26224804 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.6631C>A (p.Leu2211Ile) single nucleotide variant Inborn genetic diseases [RCV003372247] Chr22:26026605 [GRCh38]
Chr22:26422571 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5093T>C (p.Leu1698Pro) single nucleotide variant Inborn genetic diseases [RCV003376747]|not provided [RCV004810002] Chr22:25903776 [GRCh38]
Chr22:26299743 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.1952G>A (p.Arg651Gln) single nucleotide variant Inborn genetic diseases [RCV003352361] Chr22:25777665 [GRCh38]
Chr22:26173632 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3685G>A (p.Ala1229Thr) single nucleotide variant Inborn genetic diseases [RCV003377411] Chr22:25847562 [GRCh38]
Chr22:26243529 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7046G>T (p.Ser2349Ile) single nucleotide variant Inborn genetic diseases [RCV003383508] Chr22:26027020 [GRCh38]
Chr22:26422986 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5632-20C>T single nucleotide variant not provided [RCV003571529] Chr22:25947692 [GRCh38]
Chr22:26343658 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5977G>A (p.Val1993Met) single nucleotide variant not provided [RCV003570087] Chr22:25955185 [GRCh38]
Chr22:26351151 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2895G>A (p.Glu965=) single nucleotide variant not provided [RCV003568903] Chr22:25828884 [GRCh38]
Chr22:26224851 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4129C>A (p.Leu1377Ile) single nucleotide variant not provided [RCV003686429] Chr22:25876237 [GRCh38]
Chr22:26272204 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5040A>G (p.Glu1680=) single nucleotide variant not provided [RCV003569120] Chr22:25903723 [GRCh38]
Chr22:26299690 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4242A>C (p.Leu1414=) single nucleotide variant not provided [RCV003571170] Chr22:25877976 [GRCh38]
Chr22:26273943 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1692+1G>A single nucleotide variant MYO18B-related disorder [RCV003394319]|not provided [RCV003778330] Chr22:25770985 [GRCh38]
Chr22:26166952 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.1763T>C (p.Leu588Pro) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003989844]|not provided [RCV003433192] Chr22:25772404 [GRCh38]
Chr22:26168371 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.473C>T (p.Ala158Val) single nucleotide variant MYO18B-related disorder [RCV003419119] Chr22:25768389 [GRCh38]
Chr22:26164356 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6659_6660del (p.Arg2220fs) microsatellite MYO18B-related disorder [RCV003408506] Chr22:26026628..26026629 [GRCh38]
Chr22:26422594..26422595 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.630C>T (p.Ala210=) single nucleotide variant not provided [RCV003437538] Chr22:25768546 [GRCh38]
Chr22:26164513 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7480A>G (p.Lys2494Glu) single nucleotide variant not provided [RCV003427170] Chr22:26027454 [GRCh38]
Chr22:26423420 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6182C>T (p.Ala2061Val) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003493082] Chr22:25992388 [GRCh38]
Chr22:26388354 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3991C>A (p.Gln1331Lys) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003493086] Chr22:25874325 [GRCh38]
Chr22:26270292 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3900C>T (p.Leu1300=) single nucleotide variant not provided [RCV003830499] Chr22:25868334 [GRCh38]
Chr22:26264301 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3368+17T>C single nucleotide variant not provided [RCV003848879] Chr22:25843911 [GRCh38]
Chr22:26239878 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5748+13A>G single nucleotide variant not provided [RCV003579256] Chr22:25947841 [GRCh38]
Chr22:26343807 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2696-17T>A single nucleotide variant not provided [RCV003693154] Chr22:25826392 [GRCh38]
Chr22:26222359 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2673C>T (p.Leu891=) single nucleotide variant not provided [RCV003849156] Chr22:25823656 [GRCh38]
Chr22:26219623 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3831C>T (p.Asp1277=) single nucleotide variant not provided [RCV003738917] Chr22:25851525 [GRCh38]
Chr22:26247492 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5833-14T>G single nucleotide variant not provided [RCV003578231] Chr22:25952272 [GRCh38]
Chr22:26348238 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2575C>G (p.Leu859Val) single nucleotide variant not provided [RCV003825874] Chr22:25823558 [GRCh38]
Chr22:26219525 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3368+7T>C single nucleotide variant not provided [RCV003827477] Chr22:25843901 [GRCh38]
Chr22:26239868 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.318C>A (p.Gly106=) single nucleotide variant not provided [RCV003848944] Chr22:25768234 [GRCh38]
Chr22:26164201 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7104G>A (p.Pro2368=) single nucleotide variant not provided [RCV003875842] Chr22:26027078 [GRCh38]
Chr22:26423044 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5646G>C (p.Leu1882=) single nucleotide variant not provided [RCV003831005] Chr22:25947726 [GRCh38]
Chr22:26343692 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2637C>T (p.Ile879=) single nucleotide variant not provided [RCV003688006] Chr22:25823620 [GRCh38]
Chr22:26219587 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4543+1G>A single nucleotide variant not provided [RCV003576023] Chr22:25891413 [GRCh38]
Chr22:26287380 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.4458_4464dup (p.Gly1489fs) duplication not provided [RCV003579470] Chr22:25891326..25891327 [GRCh38]
Chr22:26287293..26287294 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.4938G>A (p.Gln1646=) single nucleotide variant not provided [RCV003713029] Chr22:25902727 [GRCh38]
Chr22:26298694 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6580C>T (p.Pro2194Ser) single nucleotide variant not provided [RCV003695816] Chr22:26026554 [GRCh38]
Chr22:26422520 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.546C>A (p.Pro182=) single nucleotide variant not provided [RCV003693155] Chr22:25768462 [GRCh38]
Chr22:26164429 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1580-18T>C single nucleotide variant not provided [RCV003659774] Chr22:25770854 [GRCh38]
Chr22:26166821 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3696T>C (p.Pro1232=) single nucleotide variant not provided [RCV003686933] Chr22:25847573 [GRCh38]
Chr22:26243540 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2829G>A (p.Val943=) single nucleotide variant not provided [RCV003713839] Chr22:25828818 [GRCh38]
Chr22:26224785 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4174C>T (p.Gln1392Ter) single nucleotide variant not provided [RCV003575385] Chr22:25876282 [GRCh38]
Chr22:26272249 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.5739C>T (p.Leu1913=) single nucleotide variant not provided [RCV003715350] Chr22:25947819 [GRCh38]
Chr22:26343785 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3209-19C>A single nucleotide variant not provided [RCV003572580] Chr22:25843716 [GRCh38]
Chr22:26239683 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6470+6A>G single nucleotide variant not provided [RCV003690433] Chr22:26004861 [GRCh38]
Chr22:26400827 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2545T>C (p.Phe849Leu) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003493085] Chr22:25823528 [GRCh38]
Chr22:26219495 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3368+3G>A single nucleotide variant not provided [RCV003688706] Chr22:25843897 [GRCh38]
Chr22:26239864 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3834T>C (p.Ala1278=) single nucleotide variant not provided [RCV003827260] Chr22:25851528 [GRCh38]
Chr22:26247495 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5508G>A (p.Val1836=) single nucleotide variant not provided [RCV003693038] Chr22:25921400 [GRCh38]
Chr22:26317367 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4791T>C (p.Ser1597=) single nucleotide variant not provided [RCV003693931] Chr22:25898429 [GRCh38]
Chr22:26294396 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2296T>C (p.Leu766=) single nucleotide variant not provided [RCV003880247] Chr22:25781818 [GRCh38]
Chr22:26177785 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7039_7040inv (p.Gln2347Ter) inversion not provided [RCV003830838] Chr22:26027013..26027014 [GRCh38]
Chr22:26422979..26422980 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.5971-10C>T single nucleotide variant not provided [RCV003876136] Chr22:25955169 [GRCh38]
Chr22:26351135 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4500G>A (p.Gln1500=) single nucleotide variant not provided [RCV003715631] Chr22:25891369 [GRCh38]
Chr22:26287336 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5625G>A (p.Lys1875=) single nucleotide variant not provided [RCV003877546] Chr22:25946244 [GRCh38]
Chr22:26342210 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.147C>A (p.Ala49=) single nucleotide variant not provided [RCV003577637] Chr22:25763338 [GRCh38]
Chr22:26159305 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.549C>G (p.Pro183=) single nucleotide variant not provided [RCV003663168] Chr22:25768465 [GRCh38]
Chr22:26164432 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2191A>G (p.Ile731Val) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003493081] Chr22:25780178 [GRCh38]
Chr22:26176145 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2235C>T (p.Arg745=) single nucleotide variant not provided [RCV003660574] Chr22:25781757 [GRCh38]
Chr22:26177724 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5364+11G>T single nucleotide variant not provided [RCV003877771] Chr22:25911061 [GRCh38]
Chr22:26307028 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1194C>G (p.Pro398=) single nucleotide variant not provided [RCV003578547] Chr22:25769110 [GRCh38]
Chr22:26165077 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5591T>C (p.Met1864Thr) single nucleotide variant not provided [RCV003879355] Chr22:25946210 [GRCh38]
Chr22:26342176 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2796C>T (p.Ser932=) single nucleotide variant not provided [RCV003544322] Chr22:25828785 [GRCh38]
Chr22:26224752 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5882A>T (p.Asp1961Val) single nucleotide variant not provided [RCV003714480] Chr22:25952335 [GRCh38]
Chr22:26348301 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3441G>A (p.Glu1147=) single nucleotide variant not provided [RCV003547195] Chr22:25846172 [GRCh38]
Chr22:26242139 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5149-13G>T single nucleotide variant not provided [RCV003692265] Chr22:25908309 [GRCh38]
Chr22:26304276 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3520A>T (p.Lys1174Ter) single nucleotide variant not provided [RCV003544914] Chr22:25846251 [GRCh38]
Chr22:26242218 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.7565A>C (p.Asp2522Ala) single nucleotide variant not provided [RCV003662839] Chr22:26027539 [GRCh38]
Chr22:26423505 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1689T>C (p.His563=) single nucleotide variant not provided [RCV003690046] Chr22:25770981 [GRCh38]
Chr22:26166948 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7497G>A (p.Lys2499=) single nucleotide variant not provided [RCV003572735] Chr22:26027471 [GRCh38]
Chr22:26423437 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5971-7del deletion not provided [RCV003689245] Chr22:25955169 [GRCh38]
Chr22:26351135 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.7076del (p.Pro2359fs) deletion not provided [RCV003713642] Chr22:26027049 [GRCh38]
Chr22:26423015 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.3061-7C>T single nucleotide variant not provided [RCV003715263] Chr22:25835289 [GRCh38]
Chr22:26231256 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4131del (p.Ala1378fs) deletion not provided [RCV003712908] Chr22:25876239 [GRCh38]
Chr22:26272206 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.3553-16C>T single nucleotide variant not provided [RCV003877285] Chr22:25847414 [GRCh38]
Chr22:26243381 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4225-1G>A single nucleotide variant not provided [RCV003826375] Chr22:25877958 [GRCh38]
Chr22:26273925 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.3389T>C (p.Phe1130Ser) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003493083] Chr22:25846120 [GRCh38]
Chr22:26242087 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2183C>T (p.Thr728Ile) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003493084] Chr22:25780170 [GRCh38]
Chr22:26176137 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1467C>T (p.Ala489=) single nucleotide variant not provided [RCV003850450] Chr22:25769383 [GRCh38]
Chr22:26165350 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.188C>T (p.Pro63Leu) single nucleotide variant not provided [RCV003659115] Chr22:25763379 [GRCh38]
Chr22:26159346 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4380G>T (p.Leu1460=) single nucleotide variant not provided [RCV003549240] Chr22:25890821 [GRCh38]
Chr22:26286788 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6705A>T (p.Thr2235=) single nucleotide variant not provided [RCV003835181] Chr22:26026679 [GRCh38]
Chr22:26422645 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6960C>T (p.Leu2320=) single nucleotide variant not provided [RCV003659223] Chr22:26026934 [GRCh38]
Chr22:26422900 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6891C>T (p.Asp2297=) single nucleotide variant not provided [RCV005062226] Chr22:26026865 [GRCh38]
Chr22:26422831 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.528C>G (p.Pro176=) single nucleotide variant not provided [RCV003717500] Chr22:25768444 [GRCh38]
Chr22:26164411 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.531T>G (p.Pro177=) single nucleotide variant not provided [RCV004812008] Chr22:25768447 [GRCh38]
Chr22:26164414 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7464C>T (p.Ile2488=) single nucleotide variant not provided [RCV003810899] Chr22:26027438 [GRCh38]
Chr22:26423404 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4128C>T (p.Phe1376=) single nucleotide variant not provided [RCV003666370] Chr22:25876236 [GRCh38]
Chr22:26272203 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5829A>G (p.Glu1943=) single nucleotide variant not provided [RCV003665086] Chr22:25950447 [GRCh38]
Chr22:26346413 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.471G>A (p.Val157=) single nucleotide variant not provided [RCV003717672] Chr22:25768387 [GRCh38]
Chr22:26164354 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1686C>T (p.Val562=) single nucleotide variant not provided [RCV003673109] Chr22:25770978 [GRCh38]
Chr22:26166945 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5445G>A (p.Gln1815=) single nucleotide variant not provided [RCV003850892] Chr22:25921337 [GRCh38]
Chr22:26317304 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3060+14C>T single nucleotide variant not provided [RCV003849388] Chr22:25833011 [GRCh38]
Chr22:26228978 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2312+15C>T single nucleotide variant not provided [RCV003849434] Chr22:25781849 [GRCh38]
Chr22:26177816 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6123G>T (p.Arg2041=) single nucleotide variant not provided [RCV003851948] Chr22:25955331 [GRCh38]
Chr22:26351297 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4435-2A>C single nucleotide variant not provided [RCV003549611] Chr22:25891302 [GRCh38]
Chr22:26287269 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.5577G>A (p.Ala1859=) single nucleotide variant not provided [RCV003811937] Chr22:25946196 [GRCh38]
Chr22:26342162 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7650G>C (p.Thr2550=) single nucleotide variant not provided [RCV003674278] Chr22:26027624 [GRCh38]
Chr22:26423590 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6471-17T>C single nucleotide variant not provided [RCV003837107] Chr22:26026428 [GRCh38]
Chr22:26422394 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2521+19G>T single nucleotide variant not provided [RCV003854845] Chr22:25798116 [GRCh38]
Chr22:26194083 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5619G>A (p.Arg1873=) single nucleotide variant not provided [RCV003839849] Chr22:25946238 [GRCh38]
Chr22:26342204 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1812A>G (p.Thr604=) single nucleotide variant not provided [RCV003835922] Chr22:25772453 [GRCh38]
Chr22:26168420 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6681C>T (p.Pro2227=) single nucleotide variant not provided [RCV003698562] Chr22:26026655 [GRCh38]
Chr22:26422621 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1187G>C (p.Gly396Ala) single nucleotide variant not provided [RCV003852291] Chr22:25769103 [GRCh38]
Chr22:26165070 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1579+5G>A single nucleotide variant not provided [RCV003670160] Chr22:25770181 [GRCh38]
Chr22:26166148 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6015G>A (p.Glu2005=) single nucleotide variant not provided [RCV003717367] Chr22:25955223 [GRCh38]
Chr22:26351189 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1893C>T (p.Gly631=) single nucleotide variant not provided [RCV003725219] Chr22:25777606 [GRCh38]
Chr22:26173573 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5232G>A (p.Glu1744=) single nucleotide variant not provided [RCV003664514] Chr22:25908405 [GRCh38]
Chr22:26304372 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2826G>C (p.Met942Ile) single nucleotide variant Inborn genetic diseases [RCV004953462]|not provided [RCV003726455] Chr22:25828815 [GRCh38]
Chr22:26224782 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2521+7C>T single nucleotide variant not provided [RCV003850552] Chr22:25798104 [GRCh38]
Chr22:26194071 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5971G>C (p.Val1991Leu) single nucleotide variant not provided [RCV003854710] Chr22:25955179 [GRCh38]
Chr22:26351145 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1989C>T (p.Gly663=) single nucleotide variant not provided [RCV003817394] Chr22:25777702 [GRCh38]
Chr22:26173669 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5149-8C>T single nucleotide variant not provided [RCV003725790] Chr22:25908314 [GRCh38]
Chr22:26304281 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3654A>G (p.Pro1218=) single nucleotide variant not provided [RCV003816733] Chr22:25847531 [GRCh38]
Chr22:26243498 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2522-4G>A single nucleotide variant not provided [RCV003814111] Chr22:25823501 [GRCh38]
Chr22:26219468 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6642G>A (p.Gln2214=) single nucleotide variant not provided [RCV003560588] Chr22:26026616 [GRCh38]
Chr22:26422582 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5971-12T>C single nucleotide variant not provided [RCV003839388] Chr22:25955167 [GRCh38]
Chr22:26351133 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3163G>T (p.Glu1055Ter) single nucleotide variant not provided [RCV003814098] Chr22:25835398 [GRCh38]
Chr22:26231365 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.7375G>A (p.Gly2459Arg) single nucleotide variant not provided [RCV003816858] Chr22:26027349 [GRCh38]
Chr22:26423315 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6195C>G (p.Thr2065=) single nucleotide variant MYO18B-related disorder [RCV004738801]|not provided [RCV003559689] Chr22:25992401 [GRCh38]
Chr22:26388367 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4314+19T>A single nucleotide variant not provided [RCV003666997] Chr22:25878067 [GRCh38]
Chr22:26274034 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.336C>T (p.Ser112=) single nucleotide variant not provided [RCV003700354] Chr22:25768252 [GRCh38]
Chr22:26164219 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3834T>G (p.Ala1278=) single nucleotide variant not provided [RCV003672057] Chr22:25851528 [GRCh38]
Chr22:26247495 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7488G>A (p.Pro2496=) single nucleotide variant not provided [RCV003837904] Chr22:26027462 [GRCh38]
Chr22:26423428 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2627G>A (p.Arg876Gln) single nucleotide variant not provided [RCV003549783] Chr22:25823610 [GRCh38]
Chr22:26219577 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.564A>C (p.Gly188=) single nucleotide variant not provided [RCV003703184] Chr22:25768480 [GRCh38]
Chr22:26164447 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3135A>G (p.Val1045=) single nucleotide variant not provided [RCV003673715] Chr22:25835370 [GRCh38]
Chr22:26231337 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.314_315insC (p.Lys107fs) insertion not provided [RCV003580554] Chr22:25768230..25768231 [GRCh38]
Chr22:26164197..26164198 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.315G>A (p.Leu105=) single nucleotide variant not provided [RCV003580568] Chr22:25768231 [GRCh38]
Chr22:26164198 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.69A>G (p.Pro23=) single nucleotide variant not provided [RCV003703388] Chr22:25763260 [GRCh38]
Chr22:26159227 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6645A>G (p.Arg2215=) single nucleotide variant not provided [RCV003667676] Chr22:26026619 [GRCh38]
Chr22:26422585 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2763G>T (p.Ala921=) single nucleotide variant not provided [RCV003833855] Chr22:25826476 [GRCh38]
Chr22:26222443 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4351T>C (p.Phe1451Leu) single nucleotide variant not provided [RCV003814895] Chr22:25890792 [GRCh38]
Chr22:26286759 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4948-10G>A single nucleotide variant not provided [RCV003701927] Chr22:25903621 [GRCh38]
Chr22:26299588 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.104G>A (p.Gly35Glu) single nucleotide variant not provided [RCV003850394] Chr22:25763295 [GRCh38]
Chr22:26159262 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5931C>T (p.Asn1977=) single nucleotide variant not provided [RCV003667806] Chr22:25952384 [GRCh38]
Chr22:26348350 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6894G>A (p.Glu2298=) single nucleotide variant not provided [RCV003811283] Chr22:26026868 [GRCh38]
Chr22:26422834 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4224+10T>C single nucleotide variant not provided [RCV003701686] Chr22:25876342 [GRCh38]
Chr22:26272309 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1445A>G (p.Lys482Arg) single nucleotide variant Inborn genetic diseases [RCV004654361]|not provided [RCV003834011] Chr22:25769361 [GRCh38]
Chr22:26165328 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2136C>T (p.Arg712=) single nucleotide variant not provided [RCV003701207] Chr22:25780123 [GRCh38]
Chr22:26176090 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2763G>C (p.Ala921=) single nucleotide variant not provided [RCV003851036] Chr22:25826476 [GRCh38]
Chr22:26222443 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4391G>A (p.Arg1464Gln) single nucleotide variant Inborn genetic diseases [RCV004373967]|not provided [RCV003724301] Chr22:25890832 [GRCh38]
Chr22:26286799 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_032608.7(MYO18B):c.7524G>T (p.Ser2508=) single nucleotide variant not provided [RCV003672642] Chr22:26027498 [GRCh38]
Chr22:26423464 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2148G>A (p.Arg716=) single nucleotide variant not provided [RCV003548260] Chr22:25780135 [GRCh38]
Chr22:26176102 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3711C>T (p.Ile1237=) single nucleotide variant not provided [RCV003559207] Chr22:25847588 [GRCh38]
Chr22:26243555 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1098G>C (p.Gly366=) single nucleotide variant not provided [RCV003855224] Chr22:25769014 [GRCh38]
Chr22:26164981 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4544-19C>T single nucleotide variant not provided [RCV003855364] Chr22:25895137 [GRCh38]
Chr22:26291104 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3193G>A (p.Gly1065Arg) single nucleotide variant not provided [RCV003725513] Chr22:25835428 [GRCh38]
Chr22:26231395 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1579+5G>C single nucleotide variant not provided [RCV003697020] Chr22:25770181 [GRCh38]
Chr22:26166148 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2859G>C (p.Arg953=) single nucleotide variant not provided [RCV003850710] Chr22:25828848 [GRCh38]
Chr22:26224815 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5157G>A (p.Gln1719=) single nucleotide variant not provided [RCV003678954] Chr22:25908330 [GRCh38]
Chr22:26304297 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7100_7107dup (p.Thr2370fs) duplication not provided [RCV003712001] Chr22:26027073..26027074 [GRCh38]
Chr22:26423039..26423040 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.7425T>C (p.Phe2475=) single nucleotide variant not provided [RCV003678604] Chr22:26027399 [GRCh38]
Chr22:26423365 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3209-5T>G single nucleotide variant not provided [RCV003675860] Chr22:25843730 [GRCh38]
Chr22:26239697 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5937A>G (p.Thr1979=) single nucleotide variant not provided [RCV003736229] Chr22:25952390 [GRCh38]
Chr22:26348356 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2166G>A (p.Ser722=) single nucleotide variant not provided [RCV003818760] Chr22:25780153 [GRCh38]
Chr22:26176120 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6470+7G>A single nucleotide variant not provided [RCV003682818] Chr22:26004862 [GRCh38]
Chr22:26400828 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1580-4C>T single nucleotide variant not provided [RCV003843857] Chr22:25770868 [GRCh38]
Chr22:26166835 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3306C>T (p.Leu1102=) single nucleotide variant not provided [RCV003841409] Chr22:25843832 [GRCh38]
Chr22:26239799 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4669-15C>T single nucleotide variant not provided [RCV003707240] Chr22:25898292 [GRCh38]
Chr22:26294259 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.904G>A (p.Val302Ile) single nucleotide variant not provided [RCV003727182] Chr22:25768820 [GRCh38]
Chr22:26164787 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5428C>T (p.Leu1810=) single nucleotide variant not provided [RCV003734125] Chr22:25921320 [GRCh38]
Chr22:26317287 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3776-5C>T single nucleotide variant not provided [RCV003856901] Chr22:25851465 [GRCh38]
Chr22:26247432 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4768G>T (p.Val1590Phe) single nucleotide variant not provided [RCV003823049] Chr22:25898406 [GRCh38]
Chr22:26294373 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5364+15T>C single nucleotide variant not provided [RCV003675368] Chr22:25911065 [GRCh38]
Chr22:26307032 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6112C>T (p.Leu2038=) single nucleotide variant not provided [RCV003822207] Chr22:25955320 [GRCh38]
Chr22:26351286 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4158G>A (p.Gln1386=) single nucleotide variant not provided [RCV003847201] Chr22:25876266 [GRCh38]
Chr22:26272233 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4793G>A (p.Arg1598Gln) single nucleotide variant not provided [RCV003858160] Chr22:25898431 [GRCh38]
Chr22:26294398 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3702C>A (p.Ala1234=) single nucleotide variant not provided [RCV003843951] Chr22:25847579 [GRCh38]
Chr22:26243546 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2968C>T (p.Arg990Ter) single nucleotide variant not provided [RCV003848199] Chr22:25828957 [GRCh38]
Chr22:26224924 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.6132G>A (p.Glu2044=) single nucleotide variant not provided [RCV003844504] Chr22:25955340 [GRCh38]
Chr22:26351306 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4544-16del deletion not provided [RCV003822314] Chr22:25895140 [GRCh38]
Chr22:26291107 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2877G>C (p.Arg959=) single nucleotide variant not provided [RCV003858849] Chr22:25828866 [GRCh38]
Chr22:26224833 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4752C>A (p.Asp1584Glu) single nucleotide variant not provided [RCV003705721] Chr22:25898390 [GRCh38]
Chr22:26294357 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4948-6C>T single nucleotide variant not provided [RCV003710950] Chr22:25903625 [GRCh38]
Chr22:26299592 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7353C>A (p.Pro2451=) single nucleotide variant not provided [RCV003675518] Chr22:26027327 [GRCh38]
Chr22:26423293 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1523A>G (p.Asp508Gly) single nucleotide variant not provided [RCV003859401] Chr22:25770120 [GRCh38]
Chr22:26166087 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3475A>G (p.Met1159Val) single nucleotide variant not provided [RCV003722032] Chr22:25846206 [GRCh38]
Chr22:26242173 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4435-13C>T single nucleotide variant not provided [RCV003721067] Chr22:25891291 [GRCh38]
Chr22:26287258 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1470G>T (p.Pro490=) single nucleotide variant not provided [RCV003685882] Chr22:25769386 [GRCh38]
Chr22:26165353 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5472C>T (p.Gly1824=) single nucleotide variant not provided [RCV003685333] Chr22:25921364 [GRCh38]
Chr22:26317331 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5484C>A (p.Val1828=) single nucleotide variant not provided [RCV003685334] Chr22:25921376 [GRCh38]
Chr22:26317343 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2604G>C (p.Thr868=) single nucleotide variant not provided [RCV003858158] Chr22:25823587 [GRCh38]
Chr22:26219554 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.40-15G>C single nucleotide variant not provided [RCV003869733] Chr22:25763216 [GRCh38]
Chr22:26159183 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6234C>T (p.Ala2078=) single nucleotide variant not provided [RCV003728431] Chr22:25992440 [GRCh38]
Chr22:26388406 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4544-7T>G single nucleotide variant not provided [RCV003685849] Chr22:25895149 [GRCh38]
Chr22:26291116 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2211+17G>A single nucleotide variant not provided [RCV003858520] Chr22:25780215 [GRCh38]
Chr22:26176182 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3759G>A (p.Leu1253=) single nucleotide variant not provided [RCV003867936] Chr22:25847636 [GRCh38]
Chr22:26243603 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3886-18C>T single nucleotide variant not provided [RCV003868034] Chr22:25868302 [GRCh38]
Chr22:26264269 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5364+14A>G single nucleotide variant not provided [RCV003842467] Chr22:25911064 [GRCh38]
Chr22:26307031 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5595C>T (p.His1865=) single nucleotide variant not provided [RCV003820103] Chr22:25946214 [GRCh38]
Chr22:26342180 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5101C>T (p.Gln1701Ter) single nucleotide variant not provided [RCV003567284] Chr22:25903784 [GRCh38]
Chr22:26299751 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.2316G>A (p.Thr772=) single nucleotide variant not provided [RCV003554826] Chr22:25785431 [GRCh38]
Chr22:26181398 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4668+2T>A single nucleotide variant not provided [RCV003709051] Chr22:25895282 [GRCh38]
Chr22:26291249 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.7137A>T (p.Thr2379=) single nucleotide variant not provided [RCV003677990] Chr22:26027111 [GRCh38]
Chr22:26423077 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4823+5G>A single nucleotide variant not provided [RCV003709052] Chr22:25898466 [GRCh38]
Chr22:26294433 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2214A>G (p.Thr738=) single nucleotide variant not provided [RCV003862637] Chr22:25781736 [GRCh38]
Chr22:26177703 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4948-16C>T single nucleotide variant not provided [RCV003868841] Chr22:25903615 [GRCh38]
Chr22:26299582 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3952-9T>G single nucleotide variant not provided [RCV003685500] Chr22:25874277 [GRCh38]
Chr22:26270244 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3912G>C (p.Leu1304=) single nucleotide variant not provided [RCV003721792] Chr22:25868346 [GRCh38]
Chr22:26264313 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5336A>G (p.Glu1779Gly) single nucleotide variant not provided [RCV003872285] Chr22:25911022 [GRCh38]
Chr22:26306989 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3705G>A (p.Leu1235=) single nucleotide variant not provided [RCV003848655] Chr22:25847582 [GRCh38]
Chr22:26243549 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3351C>G (p.Val1117=) single nucleotide variant not provided [RCV003720020] Chr22:25843877 [GRCh38]
Chr22:26239844 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1143G>A (p.Thr381=) single nucleotide variant not provided [RCV003848739] Chr22:25769059 [GRCh38]
Chr22:26165026 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5136G>A (p.Lys1712=) single nucleotide variant not provided [RCV003865260] Chr22:25903819 [GRCh38]
Chr22:26299786 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7527C>T (p.Ser2509=) single nucleotide variant not provided [RCV003737261] Chr22:26027501 [GRCh38]
Chr22:26423467 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4136T>A (p.Val1379Asp) single nucleotide variant not provided [RCV003737283] Chr22:25876244 [GRCh38]
Chr22:26272211 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.741C>T (p.Thr247=) single nucleotide variant not provided [RCV003670698] Chr22:25768657 [GRCh38]
Chr22:26164624 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5971-9C>T single nucleotide variant not provided [RCV003550560] Chr22:25955170 [GRCh38]
Chr22:26351136 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3438G>C (p.Leu1146=) single nucleotide variant not provided [RCV003853467] Chr22:25846169 [GRCh38]
Chr22:26242136 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2862C>T (p.His954=) single nucleotide variant not provided [RCV003705181] Chr22:25828851 [GRCh38]
Chr22:26224818 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5586G>A (p.Glu1862=) single nucleotide variant not provided [RCV003728763] Chr22:25946205 [GRCh38]
Chr22:26342171 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5664G>A (p.Glu1888=) single nucleotide variant not provided [RCV003566978] Chr22:25947744 [GRCh38]
Chr22:26343710 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1307G>A (p.Gly436Asp) single nucleotide variant not provided [RCV003867740] Chr22:25769223 [GRCh38]
Chr22:26165190 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2763G>A (p.Ala921=) single nucleotide variant not provided [RCV003556537] Chr22:25826476 [GRCh38]
Chr22:26222443 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6270T>C (p.Ser2090=) single nucleotide variant not provided [RCV003722244] Chr22:25992476 [GRCh38]
Chr22:26388442 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.486G>A (p.Pro162=) single nucleotide variant not provided [RCV003734103] Chr22:25768402 [GRCh38]
Chr22:26164369 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4314+11C>A single nucleotide variant not provided [RCV003704683] Chr22:25878059 [GRCh38]
Chr22:26274026 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2595G>A (p.Glu865=) single nucleotide variant not provided [RCV003844019] Chr22:25823578 [GRCh38]
Chr22:26219545 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3268G>T (p.Gly1090Ter) single nucleotide variant not provided [RCV003848815] Chr22:25843794 [GRCh38]
Chr22:26239761 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.4947+15A>G single nucleotide variant not provided [RCV003847589] Chr22:25902751 [GRCh38]
Chr22:26298718 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3776-3T>C single nucleotide variant not provided [RCV003841513] Chr22:25851467 [GRCh38]
Chr22:26247434 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3810C>T (p.Arg1270=) single nucleotide variant not provided [RCV003710428] Chr22:25851504 [GRCh38]
Chr22:26247471 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4434+9_4434+18del deletion not provided [RCV003733730] Chr22:25890880..25890889 [GRCh38]
Chr22:26286847..26286856 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5478A>G (p.Thr1826=) single nucleotide variant not provided [RCV003860953] Chr22:25921370 [GRCh38]
Chr22:26317337 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3720G>A (p.Leu1240=) single nucleotide variant not provided [RCV003862677] Chr22:25847597 [GRCh38]
Chr22:26243564 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4843C>T (p.Gln1615Ter) single nucleotide variant not provided [RCV003681305] Chr22:25902632 [GRCh38]
Chr22:26298599 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.4995A>G (p.Leu1665=) single nucleotide variant not provided [RCV003860664] Chr22:25903678 [GRCh38]
Chr22:26299645 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6162G>A (p.Lys2054=) single nucleotide variant not provided [RCV003709407] Chr22:25992368 [GRCh38]
Chr22:26388334 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.555A>G (p.Thr185=) single nucleotide variant not provided [RCV003864378] Chr22:25768471 [GRCh38]
Chr22:26164438 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.449G>T (p.Arg150Met) single nucleotide variant not provided [RCV003842284] Chr22:25768365 [GRCh38]
Chr22:26164332 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4081-6C>T single nucleotide variant not provided [RCV003704111] Chr22:25876183 [GRCh38]
Chr22:26272150 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2478C>G (p.Val826=) single nucleotide variant not provided [RCV003734186] Chr22:25798054 [GRCh38]
Chr22:26194021 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4824-14T>C single nucleotide variant not provided [RCV003860983] Chr22:25902599 [GRCh38]
Chr22:26298566 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4902C>T (p.Asn1634=) single nucleotide variant not provided [RCV003727356] Chr22:25902691 [GRCh38]
Chr22:26298658 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4593C>T (p.Phe1531=) single nucleotide variant not provided [RCV003734202] Chr22:25895205 [GRCh38]
Chr22:26291172 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3851_3852del (p.Leu1284fs) deletion not provided [RCV003706659] Chr22:25851544..25851545 [GRCh38]
Chr22:26247511..26247512 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.6747C>T (p.Ala2249=) single nucleotide variant not provided [RCV003710829] Chr22:26026721 [GRCh38]
Chr22:26422687 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4080+20T>C single nucleotide variant not provided [RCV003860107] Chr22:25874434 [GRCh38]
Chr22:26270401 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6287+5C>T single nucleotide variant not provided [RCV003848267] Chr22:25992498 [GRCh38]
Chr22:26388464 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2634C>G (p.Ile878Met) single nucleotide variant not provided [RCV003864686] Chr22:25823617 [GRCh38]
Chr22:26219584 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3693A>C (p.Gly1231=) single nucleotide variant not provided [RCV003843950] Chr22:25847570 [GRCh38]
Chr22:26243537 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7618C>T (p.Arg2540Ter) single nucleotide variant not provided [RCV003864760] Chr22:26027592 [GRCh38]
Chr22:26423558 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.4684dup (p.Ser1562fs) duplication not provided [RCV003818936] Chr22:25898319..25898320 [GRCh38]
Chr22:26294286..26294287 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.6157-19T>G single nucleotide variant not provided [RCV003704526] Chr22:25992344 [GRCh38]
Chr22:26388310 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2980-13T>C single nucleotide variant not provided [RCV003677868] Chr22:25832904 [GRCh38]
Chr22:26228871 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7120A>G (p.Met2374Val) single nucleotide variant Inborn genetic diseases [RCV004374258]|not provided [RCV003732200] Chr22:26027094 [GRCh38]
Chr22:26423060 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7287A>G (p.Pro2429=) single nucleotide variant not provided [RCV003711158] Chr22:26027261 [GRCh38]
Chr22:26423227 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6470+8T>C single nucleotide variant MYO18B-related disorder [RCV003893997] Chr22:26004863 [GRCh38]
Chr22:26400829 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1889A>T (p.Asp630Val) single nucleotide variant not provided [RCV003884032] Chr22:25777602 [GRCh38]
Chr22:26173569 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3579G>A (p.Arg1193=) single nucleotide variant MYO18B-related disorder [RCV003949799] Chr22:25847456 [GRCh38]
Chr22:26243423 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7015del (p.Leu2339fs) deletion Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV004527101] Chr22:26026987 [GRCh38]
Chr22:26422953 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.1273A>G (p.Met425Val) single nucleotide variant MYO18B-related disorder [RCV003896418] Chr22:25769189 [GRCh38]
Chr22:26165156 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2364C>T (p.Gly788=) single nucleotide variant MYO18B-related disorder [RCV003959739] Chr22:25785479 [GRCh38]
Chr22:26181446 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2884A>G (p.Thr962Ala) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003990769] Chr22:25828873 [GRCh38]
Chr22:26224840 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3774A>G (p.Thr1258=) single nucleotide variant MYO18B-related disorder [RCV003949652] Chr22:25847651 [GRCh38]
Chr22:26243618 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2527C>T (p.Arg843Trp) single nucleotide variant Inborn genetic diseases [RCV004453724]|not provided [RCV005104693] Chr22:25823510 [GRCh38]
Chr22:26219477 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3497G>A (p.Ser1166Asn) single nucleotide variant Inborn genetic diseases [RCV004453798] Chr22:25846228 [GRCh38]
Chr22:26242195 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6983G>C (p.Cys2328Ser) single nucleotide variant Inborn genetic diseases [RCV004456028] Chr22:26026957 [GRCh38]
Chr22:26422923 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.730G>C (p.Gly244Arg) single nucleotide variant Inborn genetic diseases [RCV004456086] Chr22:25768646 [GRCh38]
Chr22:26164613 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1466C>T (p.Ala489Val) single nucleotide variant Inborn genetic diseases [RCV004453632] Chr22:25769382 [GRCh38]
Chr22:26165349 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3059A>G (p.Gln1020Arg) single nucleotide variant Inborn genetic diseases [RCV004453774] Chr22:25832996 [GRCh38]
Chr22:26228963 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4880G>T (p.Arg1627Leu) single nucleotide variant Inborn genetic diseases [RCV004453889] Chr22:25902669 [GRCh38]
Chr22:26298636 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6704C>T (p.Thr2235Ile) single nucleotide variant Inborn genetic diseases [RCV004456001] Chr22:26026678 [GRCh38]
Chr22:26422644 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.949A>G (p.Lys317Glu) single nucleotide variant Inborn genetic diseases [RCV004456117] Chr22:25768865 [GRCh38]
Chr22:26164832 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1475A>C (p.Glu492Ala) single nucleotide variant Inborn genetic diseases [RCV004453638] Chr22:25769391 [GRCh38]
Chr22:26165358 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.162G>C (p.Gln54His) single nucleotide variant Inborn genetic diseases [RCV004453650] Chr22:25763353 [GRCh38]
Chr22:26159320 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.472G>A (p.Ala158Thr) single nucleotide variant Inborn genetic diseases [RCV004453880] Chr22:25768388 [GRCh38]
Chr22:26164355 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7245G>T (p.Met2415Ile) single nucleotide variant Inborn genetic diseases [RCV004456078] Chr22:26027219 [GRCh38]
Chr22:26423185 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1648G>T (p.Ala550Ser) single nucleotide variant Inborn genetic diseases [RCV004453653] Chr22:25770940 [GRCh38]
Chr22:26166907 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.584C>T (p.Thr195Ile) single nucleotide variant Inborn genetic diseases [RCV004455955] Chr22:25768500 [GRCh38]
Chr22:26164467 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3550A>C (p.Met1184Leu) single nucleotide variant Inborn genetic diseases [RCV004453803] Chr22:25846281 [GRCh38]
Chr22:26242248 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4079A>G (p.Lys1360Arg) single nucleotide variant Inborn genetic diseases [RCV004453845] Chr22:25874413 [GRCh38]
Chr22:26270380 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2239G>C (p.Ala747Pro) single nucleotide variant Inborn genetic diseases [RCV004453701] Chr22:25781761 [GRCh38]
Chr22:26177728 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4526G>C (p.Arg1509Thr) single nucleotide variant Inborn genetic diseases [RCV004645886] Chr22:25891395 [GRCh38]
Chr22:26287362 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5339G>C (p.Gly1780Ala) single nucleotide variant Inborn genetic diseases [RCV004649900] Chr22:25911025 [GRCh38]
Chr22:26306992 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6937A>G (p.Ile2313Val) single nucleotide variant Inborn genetic diseases [RCV004649902] Chr22:26026911 [GRCh38]
Chr22:26422877 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2197G>A (p.Ala733Thr) single nucleotide variant Inborn genetic diseases [RCV004649903]|not provided [RCV005059695] Chr22:25780184 [GRCh38]
Chr22:26176151 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3799A>C (p.Thr1267Pro) single nucleotide variant Inborn genetic diseases [RCV004649905] Chr22:25851493 [GRCh38]
Chr22:26247460 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2217G>A (p.Met739Ile) single nucleotide variant Inborn genetic diseases [RCV004649904] Chr22:25781739 [GRCh38]
Chr22:26177706 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3926A>G (p.Lys1309Arg) single nucleotide variant MYO18B-related disorder [RCV004740023] Chr22:25868360 [GRCh38]
Chr22:26264327 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1234A>G (p.Thr412Ala) single nucleotide variant not provided [RCV004724085] Chr22:25769150 [GRCh38]
Chr22:26165117 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5971-3C>A single nucleotide variant MYO18B-related disorder [RCV004740105] Chr22:25955176 [GRCh38]
Chr22:26351142 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4434+4A>C single nucleotide variant MYO18B-related disorder [RCV004740940] Chr22:25890879 [GRCh38]
Chr22:26286846 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7633C>T (p.Arg2545Trp) single nucleotide variant not provided [RCV004772031] Chr22:26027607 [GRCh38]
Chr22:26423573 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3014C>G (p.Pro1005Arg) single nucleotide variant MYO18B-related disorder [RCV004729766] Chr22:25832951 [GRCh38]
Chr22:26228918 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1239_1240del (p.Lys414fs) microsatellite Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV004795836] Chr22:25769152..25769153 [GRCh38]
Chr22:26165119..26165120 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2708C>T (p.Thr903Ile) single nucleotide variant not provided [RCV004764247]   uncertain significance
NM_032608.7(MYO18B):c.5477C>T (p.Thr1826Ile) single nucleotide variant not provided [RCV004764248]   uncertain significance
NM_032608.7(MYO18B):c.4586A>C (p.Asn1529Thr) single nucleotide variant Inborn genetic diseases [RCV004959082] Chr22:25895198 [GRCh38]
Chr22:26291165 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4712C>G (p.Ala1571Gly) single nucleotide variant Inborn genetic diseases [RCV004959083] Chr22:25898350 [GRCh38]
Chr22:26294317 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5005A>C (p.Lys1669Gln) single nucleotide variant Inborn genetic diseases [RCV004959088] Chr22:25903688 [GRCh38]
Chr22:26299655 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5688C>G (p.Ile1896Met) single nucleotide variant Inborn genetic diseases [RCV004959093] Chr22:25947768 [GRCh38]
Chr22:26343734 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4326G>C (p.Leu1442Phe) single nucleotide variant Inborn genetic diseases [RCV004959085] Chr22:25890767 [GRCh38]
Chr22:26286734 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3572T>A (p.Ile1191Asn) single nucleotide variant Inborn genetic diseases [RCV004959090] Chr22:25847449 [GRCh38]
Chr22:26243416 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6224G>A (p.Arg2075Gln) single nucleotide variant Inborn genetic diseases [RCV004959092] Chr22:25992430 [GRCh38]
Chr22:26388396 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3823G>T (p.Val1275Leu) single nucleotide variant Inborn genetic diseases [RCV004959097] Chr22:25851517 [GRCh38]
Chr22:26247484 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6692G>A (p.Arg2231Gln) single nucleotide variant Inborn genetic diseases [RCV004959098] Chr22:26026666 [GRCh38]
Chr22:26422632 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.544C>A (p.Pro182Thr) single nucleotide variant Inborn genetic diseases [RCV004959080] Chr22:25768460 [GRCh38]
Chr22:26164427 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2513C>T (p.Ala838Val) single nucleotide variant Inborn genetic diseases [RCV004959081] Chr22:25798089 [GRCh38]
Chr22:26194056 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1711G>A (p.Asp571Asn) single nucleotide variant Inborn genetic diseases [RCV004959087] Chr22:25772352 [GRCh38]
Chr22:26168319 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7180G>C (p.Ala2394Pro) single nucleotide variant Inborn genetic diseases [RCV004959091] Chr22:26027154 [GRCh38]
Chr22:26423120 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3508G>A (p.Ala1170Thr) single nucleotide variant Inborn genetic diseases [RCV004959086] Chr22:25846239 [GRCh38]
Chr22:26242206 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3518G>A (p.Arg1173Lys) single nucleotide variant Inborn genetic diseases [RCV004959094] Chr22:25846249 [GRCh38]
Chr22:26242216 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1642A>G (p.Ile548Val) single nucleotide variant Inborn genetic diseases [RCV004959096] Chr22:25770934 [GRCh38]
Chr22:26166901 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2234G>A (p.Arg745His) single nucleotide variant Inborn genetic diseases [RCV004959079] Chr22:25781756 [GRCh38]
Chr22:26177723 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4828G>A (p.Asp1610Asn) single nucleotide variant Inborn genetic diseases [RCV004959099] Chr22:25902617 [GRCh38]
Chr22:26298584 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6978C>G (p.Leu2326=) single nucleotide variant not provided [RCV005174568] Chr22:26026952 [GRCh38]
Chr22:26422918 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2786+16C>T single nucleotide variant not provided [RCV005060389] Chr22:25826515 [GRCh38]
Chr22:26222482 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7461G>A (p.Gly2487=) single nucleotide variant not provided [RCV005088977] Chr22:26027435 [GRCh38]
Chr22:26423401 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2509G>A (p.Gly837Arg) single nucleotide variant not provided [RCV005067086] Chr22:25798085 [GRCh38]
Chr22:26194052 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2212-12C>G single nucleotide variant not provided [RCV005067641] Chr22:25781722 [GRCh38]
Chr22:26177689 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6028G>T (p.Ala2010Ser) single nucleotide variant not provided [RCV005068013] Chr22:25955236 [GRCh38]
Chr22:26351202 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6039C>G (p.Ser2013=) single nucleotide variant not provided [RCV005084949] Chr22:25955247 [GRCh38]
Chr22:26351213 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.593C>A (p.Thr198Asn) single nucleotide variant not provided [RCV005196230] Chr22:25768509 [GRCh38]
Chr22:26164476 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7173G>A (p.Val2391=) single nucleotide variant not provided [RCV005060649] Chr22:26027147 [GRCh38]
Chr22:26423113 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2460G>A (p.Gln820=) single nucleotide variant not provided [RCV005175352] Chr22:25798036 [GRCh38]
Chr22:26194003 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3060+18C>T single nucleotide variant not provided [RCV005174116] Chr22:25833015 [GRCh38]
Chr22:26228982 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6333-11T>A single nucleotide variant not provided [RCV005145412] Chr22:26004707 [GRCh38]
Chr22:26400673 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6956G>A (p.Gly2319Asp) single nucleotide variant not provided [RCV005174325] Chr22:26026930 [GRCh38]
Chr22:26422896 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4722G>A (p.Leu1574=) single nucleotide variant not provided [RCV005105812] Chr22:25898360 [GRCh38]
Chr22:26294327 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3553-15C>T single nucleotide variant not provided [RCV005060211] Chr22:25847415 [GRCh38]
Chr22:26243382 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.39+11C>A single nucleotide variant not provided [RCV005060262] Chr22:25761142 [GRCh38]
Chr22:26157109 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5423A>G (p.His1808Arg) single nucleotide variant not provided [RCV005085542] Chr22:25921315 [GRCh38]
Chr22:26317282 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7593A>G (p.Pro2531=) single nucleotide variant not provided [RCV005086923] Chr22:26027567 [GRCh38]
Chr22:26423533 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2980-15C>T single nucleotide variant not provided [RCV005062570] Chr22:25832902 [GRCh38]
Chr22:26228869 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4906A>C (p.Ser1636Arg) single nucleotide variant not provided [RCV005085329] Chr22:25902695 [GRCh38]
Chr22:26298662 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1053T>C (p.Pro351=) single nucleotide variant not provided [RCV005145334] Chr22:25768969 [GRCh38]
Chr22:26164936 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3886-14A>G single nucleotide variant not provided [RCV005087825] Chr22:25868306 [GRCh38]
Chr22:26264273 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6048G>A (p.Gln2016=) single nucleotide variant not provided [RCV005066867] Chr22:25955256 [GRCh38]
Chr22:26351222 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7125G>A (p.Leu2375=) single nucleotide variant not provided [RCV005173644] Chr22:26027099 [GRCh38]
Chr22:26423065 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3565_3572dup (p.Ile1191_Lys1192insAlaTer) duplication not provided [RCV005173654] Chr22:25847441..25847442 [GRCh38]
Chr22:26243408..26243409 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.7324G>A (p.Asp2442Asn) single nucleotide variant not provided [RCV005105896] Chr22:26027298 [GRCh38]
Chr22:26423264 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1512+24_1512+29del deletion not provided [RCV005060593] Chr22:25769448..25769453 [GRCh38]
Chr22:26165415..26165420 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5581C>T (p.Leu1861=) single nucleotide variant not provided [RCV005172078] Chr22:25946200 [GRCh38]
Chr22:26342166 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4434+7G>A single nucleotide variant not provided [RCV005146276] Chr22:25890882 [GRCh38]
Chr22:26286849 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.731G>T (p.Gly244Val) single nucleotide variant not provided [RCV005174939] Chr22:25768647 [GRCh38]
Chr22:26164614 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.39+11C>T single nucleotide variant not provided [RCV005172309] Chr22:25761142 [GRCh38]
Chr22:26157109 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1276G>A (p.Val426Met) single nucleotide variant not provided [RCV005088190] Chr22:25769192 [GRCh38]
Chr22:26165159 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3886-13A>T single nucleotide variant not provided [RCV005174582] Chr22:25868307 [GRCh38]
Chr22:26264274 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6763G>T (p.Glu2255Ter) single nucleotide variant not provided [RCV005172300] Chr22:26026737 [GRCh38]
Chr22:26422703 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.3776-4C>A single nucleotide variant not provided [RCV005060229] Chr22:25851466 [GRCh38]
Chr22:26247433 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4905C>T (p.Thr1635=) single nucleotide variant not provided [RCV005067238] Chr22:25902694 [GRCh38]
Chr22:26298661 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1966A>G (p.Ile656Val) single nucleotide variant not provided [RCV005067095] Chr22:25777679 [GRCh38]
Chr22:26173646 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2521+11C>G single nucleotide variant not provided [RCV005087470] Chr22:25798108 [GRCh38]
Chr22:26194075 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3102C>T (p.Gly1034=) single nucleotide variant not provided [RCV005066761] Chr22:25835337 [GRCh38]
Chr22:26231304 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3222G>A (p.Leu1074=) single nucleotide variant not provided [RCV005195623] Chr22:25843748 [GRCh38]
Chr22:26239715 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7605T>C (p.Gly2535=) single nucleotide variant not provided [RCV005084731] Chr22:26027579 [GRCh38]
Chr22:26423545 [GRCh37]
Chr22:22q12.1		 benign
NM_032608.7(MYO18B):c.5547G>A (p.Glu1849=) single nucleotide variant not provided [RCV005129406] Chr22:25946166 [GRCh38]
Chr22:26342132 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4656G>A (p.Glu1552=) single nucleotide variant not provided [RCV005207773] Chr22:25895268 [GRCh38]
Chr22:26291235 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1975C>T (p.Leu659=) single nucleotide variant not provided [RCV005186861] Chr22:25777688 [GRCh38]
Chr22:26173655 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5839G>T (p.Val1947Leu) single nucleotide variant not provided [RCV005080191] Chr22:25952292 [GRCh38]
Chr22:26348258 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3558G>T (p.Ala1186=) single nucleotide variant not provided [RCV005070763] Chr22:25847435 [GRCh38]
Chr22:26243402 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1512+17C>T single nucleotide variant not provided [RCV005160968] Chr22:25769445 [GRCh38]
Chr22:26165412 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4315-10C>A single nucleotide variant not provided [RCV005148983] Chr22:25890746 [GRCh38]
Chr22:26286713 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5832+2T>C single nucleotide variant not provided [RCV005120869] Chr22:25950452 [GRCh38]
Chr22:26346418 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.1692+18C>A single nucleotide variant not provided [RCV005178734] Chr22:25771002 [GRCh38]
Chr22:26166969 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4823+10A>G single nucleotide variant not provided [RCV005079331] Chr22:25898471 [GRCh38]
Chr22:26294438 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2334G>A (p.Gln778=) single nucleotide variant not provided [RCV005071090] Chr22:25785449 [GRCh38]
Chr22:26181416 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5684G>T (p.Arg1895Leu) single nucleotide variant not provided [RCV005072292] Chr22:25947764 [GRCh38]
Chr22:26343730 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2841A>G (p.Pro947=) single nucleotide variant not provided [RCV005121014] Chr22:25828830 [GRCh38]
Chr22:26224797 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2516G>A (p.Cys839Tyr) single nucleotide variant not provided [RCV005130771] Chr22:25798092 [GRCh38]
Chr22:26194059 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4453C>T (p.Gln1485Ter) single nucleotide variant not provided [RCV005150807] Chr22:25891322 [GRCh38]
Chr22:26287289 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.3061-2A>C single nucleotide variant not provided [RCV005077241] Chr22:25835294 [GRCh38]
Chr22:26231261 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.5571C>T (p.Leu1857=) single nucleotide variant not provided [RCV005119634] Chr22:25946190 [GRCh38]
Chr22:26342156 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6455G>T (p.Arg2152Leu) single nucleotide variant not provided [RCV005188830] Chr22:26004840 [GRCh38]
Chr22:26400806 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1297G>T (p.Gly433Trp) single nucleotide variant not provided [RCV005187151] Chr22:25769213 [GRCh38]
Chr22:26165180 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5832+16C>T single nucleotide variant not provided [RCV005160318] Chr22:25950466 [GRCh38]
Chr22:26346432 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3517A>C (p.Arg1173=) single nucleotide variant not provided [RCV005198920] Chr22:25846248 [GRCh38]
Chr22:26242215 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1719C>T (p.Val573=) single nucleotide variant not provided [RCV005200329] Chr22:25772360 [GRCh38]
Chr22:26168327 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6288T>G (p.Ser2096Arg) single nucleotide variant not provided [RCV005117077] Chr22:26003265 [GRCh38]
Chr22:26399231 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.43C>G (p.Arg15Gly) single nucleotide variant not provided [RCV005200374] Chr22:25763234 [GRCh38]
Chr22:26159201 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2382A>G (p.Glu794=) single nucleotide variant not provided [RCV005178282] Chr22:25797958 [GRCh38]
Chr22:26193925 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4668+9_4668+11del deletion not provided [RCV005158905] Chr22:25895288..25895290 [GRCh38]
Chr22:26291255..26291257 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2934G>A (p.Leu978=) single nucleotide variant not provided [RCV005155573] Chr22:25828923 [GRCh38]
Chr22:26224890 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.240C>T (p.Ser80=) single nucleotide variant not provided [RCV005111828] Chr22:25768156 [GRCh38]
Chr22:26164123 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4872G>A (p.Lys1624=) single nucleotide variant not provided [RCV005160681] Chr22:25902661 [GRCh38]
Chr22:26298628 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2970A>T (p.Arg990=) single nucleotide variant not provided [RCV005185395] Chr22:25828959 [GRCh38]
Chr22:26224926 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5998C>T (p.Leu2000=) single nucleotide variant not provided [RCV005191074] Chr22:25955206 [GRCh38]
Chr22:26351172 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4224+11G>A single nucleotide variant not provided [RCV005159128] Chr22:25876343 [GRCh38]
Chr22:26272310 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6266C>A (p.Ser2089Tyr) single nucleotide variant not provided [RCV005159217] Chr22:25992472 [GRCh38]
Chr22:26388438 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5785C>T (p.Leu1929=) single nucleotide variant not provided [RCV005070518] Chr22:25950403 [GRCh38]
Chr22:26346369 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3640C>T (p.Gln1214Ter) single nucleotide variant not provided [RCV005204316] Chr22:25847517 [GRCh38]
Chr22:26243484 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.7281A>G (p.Lys2427=) single nucleotide variant not provided [RCV005167922] Chr22:26027255 [GRCh38]
Chr22:26423221 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7155G>T (p.Arg2385=) single nucleotide variant not provided [RCV005168126] Chr22:26027129 [GRCh38]
Chr22:26423095 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3952-18A>T single nucleotide variant not provided [RCV005081735] Chr22:25874268 [GRCh38]
Chr22:26270235 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5658G>A (p.Gln1886=) single nucleotide variant not provided [RCV005190462] Chr22:25947738 [GRCh38]
Chr22:26343704 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7164G>A (p.Glu2388=) single nucleotide variant not provided [RCV005163967] Chr22:26027138 [GRCh38]
Chr22:26423104 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5272G>T (p.Glu1758Ter) single nucleotide variant not provided [RCV005166365] Chr22:25910958 [GRCh38]
Chr22:26306925 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.2016G>C (p.Gln672His) single nucleotide variant not provided [RCV005198421] Chr22:25777729 [GRCh38]
Chr22:26173696 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1579+10G>T single nucleotide variant not provided [RCV005077635] Chr22:25770186 [GRCh38]
Chr22:26166153 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7209G>A (p.Pro2403=) single nucleotide variant not provided [RCV005077705] Chr22:26027183 [GRCh38]
Chr22:26423149 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3385C>G (p.Leu1129Val) single nucleotide variant not provided [RCV005193444] Chr22:25846116 [GRCh38]
Chr22:26242083 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2141C>T (p.Ala714Val) single nucleotide variant not provided [RCV005084261] Chr22:25780128 [GRCh38]
Chr22:26176095 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2858G>A (p.Arg953Gln) single nucleotide variant not provided [RCV005180106] Chr22:25828847 [GRCh38]
Chr22:26224814 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.4254A>G (p.Leu1418=) single nucleotide variant not provided [RCV005155813] Chr22:25877988 [GRCh38]
Chr22:26273955 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6726del (p.Lys2242fs) deletion not provided [RCV005199088] Chr22:26026700 [GRCh38]
Chr22:26422666 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.6288-2A>G single nucleotide variant not provided [RCV005117076] Chr22:26003263 [GRCh38]
Chr22:26399229 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_032608.7(MYO18B):c.5814_5815delinsTT (p.Lys1938_His1939delinsAsnTyr) indel not provided [RCV005191441] Chr22:25950432..25950433 [GRCh38]
Chr22:26346398..26346399 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2421G>A (p.Gln807=) single nucleotide variant not provided [RCV005169186] Chr22:25797997 [GRCh38]
Chr22:26193964 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5260-7T>C single nucleotide variant not provided [RCV005169292] Chr22:25910939 [GRCh38]
Chr22:26306906 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.540C>T (p.Thr180=) single nucleotide variant not provided [RCV005199357] Chr22:25768456 [GRCh38]
Chr22:26164423 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6732C>T (p.Pro2244=) single nucleotide variant not provided [RCV005142703] Chr22:26026706 [GRCh38]
Chr22:26422672 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.540C>G (p.Thr180=) single nucleotide variant not provided [RCV005169626] Chr22:25768456 [GRCh38]
Chr22:26164423 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1530G>A (p.Trp510Ter) single nucleotide variant not provided [RCV005169832] Chr22:25770127 [GRCh38]
Chr22:26166094 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.4080+16C>G single nucleotide variant not provided [RCV005169852] Chr22:25874430 [GRCh38]
Chr22:26270397 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2955C>G (p.Val985=) single nucleotide variant not provided [RCV005079972] Chr22:25828944 [GRCh38]
Chr22:26224911 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5832+17del deletion not provided [RCV005082336] Chr22:25950467 [GRCh38]
Chr22:26346433 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2209C>A (p.Gln737Lys) single nucleotide variant not provided [RCV005119601] Chr22:25780196 [GRCh38]
Chr22:26176163 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.1877A>C (p.Lys626Thr) single nucleotide variant not provided [RCV005081623] Chr22:25777590 [GRCh38]
Chr22:26173557 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5149-4G>A single nucleotide variant not provided [RCV005188970] Chr22:25908318 [GRCh38]
Chr22:26304285 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1083G>A (p.Val361=) single nucleotide variant not provided [RCV005123168] Chr22:25768999 [GRCh38]
Chr22:26164966 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4437C>T (p.Ser1479=) single nucleotide variant not provided [RCV005070888] Chr22:25891306 [GRCh38]
Chr22:26287273 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1512+7G>A single nucleotide variant not provided [RCV005117111] Chr22:25769435 [GRCh38]
Chr22:26165402 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2376+11G>A single nucleotide variant not provided [RCV005157842] Chr22:25785502 [GRCh38]
Chr22:26181469 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2244G>C (p.Arg748=) single nucleotide variant not provided [RCV005160821] Chr22:25781766 [GRCh38]
Chr22:26177733 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3738G>A (p.Gly1246=) single nucleotide variant not provided [RCV005164688] Chr22:25847615 [GRCh38]
Chr22:26243582 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4495C>T (p.Gln1499Ter) single nucleotide variant not provided [RCV005123398] Chr22:25891364 [GRCh38]
Chr22:26287331 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.5341_5342dup (p.Leu1781fs) duplication not provided [RCV005119379] Chr22:25911026..25911027 [GRCh38]
Chr22:26306993..26306994 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.3739T>A (p.Phe1247Ile) single nucleotide variant not provided [RCV005080129] Chr22:25847616 [GRCh38]
Chr22:26243583 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5833-10A>G single nucleotide variant not provided [RCV005080966] Chr22:25952276 [GRCh38]
Chr22:26348242 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5396G>T (p.Arg1799Leu) single nucleotide variant not provided [RCV005139924] Chr22:25921288 [GRCh38]
Chr22:26317255 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.-110+4232A>T single nucleotide variant not provided [RCV005079238] Chr22:25746525 [GRCh38]
Chr22:26142492 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3803G>A (p.Arg1268His) single nucleotide variant not provided [RCV005073192] Chr22:25851497 [GRCh38]
Chr22:26247464 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.2187C>T (p.Gly729=) single nucleotide variant not provided [RCV005078277] Chr22:25780174 [GRCh38]
Chr22:26176141 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.75_85dup (p.Leu29fs) duplication not provided [RCV005073308] Chr22:25763260..25763261 [GRCh38]
Chr22:26159227..26159228 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.580G>A (p.Glu194Lys) single nucleotide variant not provided [RCV005076891] Chr22:25768496 [GRCh38]
Chr22:26164463 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5599G>A (p.Glu1867Lys) single nucleotide variant not provided [RCV005119655] Chr22:25946218 [GRCh38]
Chr22:26342184 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.6534G>A (p.Arg2178=) single nucleotide variant not provided [RCV005136992] Chr22:26026508 [GRCh38]
Chr22:26422474 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7153C>A (p.Arg2385=) single nucleotide variant not provided [RCV005132918] Chr22:26027127 [GRCh38]
Chr22:26423093 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6287+17T>A single nucleotide variant not provided [RCV005133233] Chr22:25992510 [GRCh38]
Chr22:26388476 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7489G>A (p.Glu2497Lys) single nucleotide variant not provided [RCV005121024] Chr22:26027463 [GRCh38]
Chr22:26423429 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5517+19C>T single nucleotide variant not provided [RCV005163237] Chr22:25921428 [GRCh38]
Chr22:26317395 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1289C>A (p.Ala430Glu) single nucleotide variant not provided [RCV005139111] Chr22:25769205 [GRCh38]
Chr22:26165172 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7532C>T (p.Ser2511Phe) single nucleotide variant not provided [RCV005141080] Chr22:26027506 [GRCh38]
Chr22:26423472 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3223C>A (p.Arg1075=) single nucleotide variant not provided [RCV005083526] Chr22:25843749 [GRCh38]
Chr22:26239716 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5260-17T>C single nucleotide variant not provided [RCV005165924] Chr22:25910929 [GRCh38]
Chr22:26306896 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2377-20C>T single nucleotide variant not provided [RCV005079560] Chr22:25797933 [GRCh38]
Chr22:26193900 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2904C>T (p.His968=) single nucleotide variant not provided [RCV005166682] Chr22:25828893 [GRCh38]
Chr22:26224860 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4948-11T>C single nucleotide variant not provided [RCV005133756] Chr22:25903620 [GRCh38]
Chr22:26299587 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.528C>A (p.Pro176=) single nucleotide variant not provided [RCV005070162] Chr22:25768444 [GRCh38]
Chr22:26164411 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4081-12C>T single nucleotide variant not provided [RCV005078700] Chr22:25876177 [GRCh38]
Chr22:26272144 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5632-15A>T single nucleotide variant not provided [RCV005166105] Chr22:25947697 [GRCh38]
Chr22:26343663 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4603C>A (p.Arg1535Ser) single nucleotide variant not provided [RCV005133805] Chr22:25895215 [GRCh38]
Chr22:26291182 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3072A>T (p.Pro1024=) single nucleotide variant not provided [RCV005160424] Chr22:25835307 [GRCh38]
Chr22:26231274 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2212-18C>G single nucleotide variant not provided [RCV005068714] Chr22:25781716 [GRCh38]
Chr22:26177683 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7609G>A (p.Gly2537Ser) single nucleotide variant not provided [RCV005075862] Chr22:26027583 [GRCh38]
Chr22:26423549 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.3951+20T>C single nucleotide variant not provided [RCV005160433] Chr22:25868405 [GRCh38]
Chr22:26264372 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6567C>T (p.Asp2189=) single nucleotide variant not provided [RCV005178799] Chr22:26026541 [GRCh38]
Chr22:26422507 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2377-15T>C single nucleotide variant not provided [RCV005124889] Chr22:25797938 [GRCh38]
Chr22:26193905 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2028C>T (p.His676=) single nucleotide variant not provided [RCV005108036] Chr22:25777741 [GRCh38]
Chr22:26173708 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1263G>A (p.Glu421=) single nucleotide variant not provided [RCV005202023] Chr22:25769179 [GRCh38]
Chr22:26165146 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3891G>A (p.Val1297=) single nucleotide variant not provided [RCV005148383] Chr22:25868325 [GRCh38]
Chr22:26264292 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4668+14A>T single nucleotide variant not provided [RCV005069074] Chr22:25895294 [GRCh38]
Chr22:26291261 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.2521+19G>A single nucleotide variant not provided [RCV005199707] Chr22:25798116 [GRCh38]
Chr22:26194083 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4314+9A>G single nucleotide variant not provided [RCV005069653] Chr22:25878057 [GRCh38]
Chr22:26274024 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4224+9_4224+10del deletion not provided [RCV005126124] Chr22:25876340..25876341 [GRCh38]
Chr22:26272307..26272308 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1677_1689del (p.Glu559fs) deletion not provided [RCV005204406] Chr22:25770969..25770981 [GRCh38]
Chr22:26166936..26166948 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.147C>G (p.Ala49=) single nucleotide variant not provided [RCV005111178] Chr22:25763338 [GRCh38]
Chr22:26159305 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.513T>C (p.His171=) single nucleotide variant not provided [RCV005069161] Chr22:25768429 [GRCh38]
Chr22:26164396 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.60C>T (p.Ser20=) single nucleotide variant not provided [RCV005149095] Chr22:25763251 [GRCh38]
Chr22:26159218 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.285G>A (p.Gln95=) single nucleotide variant not provided [RCV005151882] Chr22:25768201 [GRCh38]
Chr22:26164168 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5823A>G (p.Leu1941=) single nucleotide variant not provided [RCV005075321] Chr22:25950441 [GRCh38]
Chr22:26346407 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5734G>T (p.Asp1912Tyr) single nucleotide variant not provided [RCV005127601] Chr22:25947814 [GRCh38]
Chr22:26343780 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.5833-19A>C single nucleotide variant not provided [RCV005149449] Chr22:25952267 [GRCh38]
Chr22:26348233 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6288-15T>C single nucleotide variant not provided [RCV005070942] Chr22:26003250 [GRCh38]
Chr22:26399216 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.309C>T (p.Asp103=) single nucleotide variant not provided [RCV005072782] Chr22:25768225 [GRCh38]
Chr22:26164192 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4236A>C (p.Thr1412=) single nucleotide variant not provided [RCV005198738] Chr22:25877970 [GRCh38]
Chr22:26273937 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.5971-13C>G single nucleotide variant not provided [RCV005069769] Chr22:25955166 [GRCh38]
Chr22:26351132 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3885+13C>T single nucleotide variant not provided [RCV005127657] Chr22:25851592 [GRCh38]
Chr22:26247559 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.224C>G (p.Pro75Arg) single nucleotide variant not provided [RCV005201411] Chr22:25768140 [GRCh38]
Chr22:26164107 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_032608.7(MYO18B):c.7536C>T (p.Ser2512=) single nucleotide variant not provided [RCV005074616] Chr22:26027510 [GRCh38]
Chr22:26423476 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4315-5C>T single nucleotide variant not provided [RCV005199094] Chr22:25890751 [GRCh38]
Chr22:26286718 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.4260dup (p.Ser1421fs) duplication not provided [RCV005183027] Chr22:25877989..25877990 [GRCh38]
Chr22:26273956..26273957 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.3886-4C>T single nucleotide variant not provided [RCV005071100] Chr22:25868316 [GRCh38]
Chr22:26264283 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1749C>T (p.Asn583=) single nucleotide variant not provided [RCV005072953] Chr22:25772390 [GRCh38]
Chr22:26168357 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.1580-15G>C single nucleotide variant not provided [RCV005199403] Chr22:25770857 [GRCh38]
Chr22:26166824 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3678G>A (p.Lys1226=) single nucleotide variant not provided [RCV005153635] Chr22:25847555 [GRCh38]
Chr22:26243522 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.3952-10C>T single nucleotide variant not provided [RCV005150260] Chr22:25874276 [GRCh38]
Chr22:26270243 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.6922_6923del (p.Lys2308fs) deletion not provided [RCV005072099] Chr22:26026895..26026896 [GRCh38]
Chr22:26422861..26422862 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_032608.7(MYO18B):c.6157-15A>G single nucleotide variant not provided [RCV005068524] Chr22:25992348 [GRCh38]
Chr22:26388314 [GRCh37]
Chr22:22q12.1		 likely benign
NM_032608.7(MYO18B):c.7579C>T (p.Arg2527Ter) single nucleotide variant Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome [RCV003132792] Chr22:26027553 [GRCh38]
Chr22:26423519 [GRCh37]
Chr22:22q12.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:4572
Count of miRNA genes:1258
Interacting mature miRNAs:1633
Transcripts:ENST00000335473, ENST00000407587, ENST00000418374, ENST00000534908, ENST00000536101, ENST00000536204, ENST00000539302, ENST00000539544, ENST00000540454, ENST00000543971
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
406948800GWAS597776_Htrans fatty acid measurement, trans/trans-18:2 fatty acid measurement QTL GWAS597776 (human)0.000002trans fatty acid measurement, trans/trans-18:2 fatty acid measurementmilk trans fatty acid measurement (CMO:0000824)222580858525808586Human
597332123GWAS1428197_HR-warfarin measurement QTL GWAS1428197 (human)0.000001R-warfarin measurement222588836125888362Human
406948803GWAS597779_Htrans fatty acid measurement, trans/trans-18:2 fatty acid measurement QTL GWAS597779 (human)0.000003trans fatty acid measurement, trans/trans-18:2 fatty acid measurementmilk trans fatty acid measurement (CMO:0000824)222581194325811944Human
597422233GWAS1518307_Hatrial fibrillation QTL GWAS1518307 (human)2e-08atrial fibrillation222584709225847093Human
597422232GWAS1518306_Hatrial fibrillation QTL GWAS1518306 (human)1e-09atrial fibrillation222576811225768113Human
596963996GWAS1083515_Hbipolar disorder, mental or behavioural disorder, major depressive disorder QTL GWAS1083515 (human)0.000002bipolar disorder, mental or behavioural disorder, major depressive disorder222600763326007634Human
597150622GWAS1246696_Helectrocardiography QTL GWAS1246696 (human)9e-09electrocardiography222576332225763323Human
597150621GWAS1246695_Helectrocardiography QTL GWAS1246695 (human)2e-08electrocardiography222576332225763323Human
597150620GWAS1246694_Helectrocardiography QTL GWAS1246694 (human)5e-09electrocardiography222576332225763323Human
597150619GWAS1246693_Helectrocardiography QTL GWAS1246693 (human)8e-09electrocardiography222576332225763323Human
597260053GWAS1356127_Hvital capacity QTL GWAS1356127 (human)0.000004vital capacity222605925026059251Human
597150618GWAS1246692_Helectrocardiography QTL GWAS1246692 (human)4e-09electrocardiography222576332225763323Human
597150617GWAS1246691_Helectrocardiography QTL GWAS1246691 (human)7e-09electrocardiography222576332225763323Human
597055769GWAS1151843_Hadolescent idiopathic scoliosis QTL GWAS1151843 (human)2e-15adolescent idiopathic scoliosis222604032126040322Human
597428111GWAS1524185_Helectrocardiography QTL GWAS1524185 (human)3e-11electrocardiography222576046425760465Human
597150468GWAS1246542_Helectrocardiography QTL GWAS1246542 (human)3e-08electrocardiography222576332225763323Human
597150467GWAS1246541_Helectrocardiography QTL GWAS1246541 (human)3e-09electrocardiography222576332225763323Human
597150466GWAS1246540_Helectrocardiography QTL GWAS1246540 (human)4e-08electrocardiography222576332225763323Human
597150465GWAS1246539_Helectrocardiography QTL GWAS1246539 (human)4e-11electrocardiography222576332225763323Human
597150464GWAS1246538_Helectrocardiography QTL GWAS1246538 (human)2e-18electrocardiography222576332225763323Human
597106702GWAS1202776_Hmathematical ability QTL GWAS1202776 (human)8e-09mathematical ability222599398925993990Human
407227501GWAS876477_Hurate measurement QTL GWAS876477 (human)0.000004urate measurementblood uric acid level (CMO:0000501)222598210725982108Human
597334966GWAS1431040_HCOVID-19 QTL GWAS1431040 (human)0.000006COVID-19222588870225888703Human
597210152GWAS1306226_Hleft ventricular structural measurement QTL GWAS1306226 (human)6e-10heart left ventricle morphology trait (VT:0003921)heart left ventricle morphological measurement (CMO:0000951)222576693525766936Human
597178793GWAS1274867_HQRS-T angle QTL GWAS1274867 (human)3e-10heart excitatory physiology trait (VT:0000231)222576413825764139Human
597152550GWAS1248624_Hmemory performance, language measurement QTL GWAS1248624 (human)0.0000004memory performance, language measurement222603995226039953Human
597146915GWAS1242989_HLeft ventricular mass to end-diastolic volume ratio QTL GWAS1242989 (human)2e-09heart left ventricle morphology trait (VT:0003921)222576419425764195Human
407227505GWAS876481_Hurate measurement QTL GWAS876481 (human)0.000006urate measurementblood uric acid level (CMO:0000501)222598210725982108Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human
597210543GWAS1306617_HLeft ventricular mass to end-diastolic volume ratio QTL GWAS1306617 (human)5e-08heart left ventricle morphology trait (VT:0003921)222576693525766936Human
406910459GWAS559435_Hunipolar depression, bipolar disorder, mental or behavioural disorder QTL GWAS559435 (human)0.000002unipolar depression, bipolar disorder, mental or behavioural disorder222600763326007634Human
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
407389707GWAS1038683_Hacute myeloid leukemia QTL GWAS1038683 (human)5e-18leukocyte integrity trait (VT:0010898)222579946325799464Human
597302878GWAS1398952_HBrugada syndrome QTL GWAS1398952 (human)8e-09Brugada syndrome222576811225768113Human
597028048GWAS1124122_Hatrial fibrillation QTL GWAS1124122 (human)0.0000001atrial fibrillation222576811225768113Human
597152863GWAS1248937_Helectrocardiography QTL GWAS1248937 (human)1e-36electrocardiography222576332225763323Human
597052254GWAS1148328_Hcalcium measurement QTL GWAS1148328 (human)0.000002calcium measurementblood calcium level (CMO:0000502)222598409225984093Human
597146073GWAS1242147_HCOVID-19 QTL GWAS1242147 (human)0.000004COVID-19222598527625985277Human
597150790GWAS1246864_Helectrocardiography QTL GWAS1246864 (human)7e-10electrocardiography222576332225763323Human
597327560GWAS1423634_Hleft ventricular structural measurement QTL GWAS1423634 (human)4e-15heart left ventricle morphology trait (VT:0003921)heart left ventricle morphological measurement (CMO:0000951)222576332225763323Human
597150789GWAS1246863_Helectrocardiography QTL GWAS1246863 (human)1e-08electrocardiography222576332225763323Human
597319375GWAS1415449_Hopioid dependence QTL GWAS1415449 (human)0.000004opioid dependence222586193025861931Human
407389841GWAS1038817_Hacute myeloid leukemia QTL GWAS1038817 (human)1e-12leukocyte integrity trait (VT:0010898)222579946325799464Human
597110989GWAS1207063_Hmathematical ability QTL GWAS1207063 (human)2e-09mathematical ability222599398925993990Human
407071007GWAS719983_Hnon-lobar intracerebral hemorrhage QTL GWAS719983 (human)0.0000007non-lobar intracerebral hemorrhage222603708826037089Human
597327557GWAS1423631_Hleft ventricular structural measurement QTL GWAS1423631 (human)6e-19heart left ventricle morphology trait (VT:0003921)heart left ventricle morphological measurement (CMO:0000951)222576332225763323Human
597245304GWAS1341378_Hprogression free survival, response to carboplatin, ovarian serous carcinoma, trait in response to paclitaxel QTL GWAS1341378 (human)0.000003progression free survival, response to carboplatin, ovarian serous carcinoma, trait in response to paclitaxelsurvival measurement (CMO:0001021)222581582325815824Human
597050098GWAS1146172_Huterine fibroid QTL GWAS1146172 (human)0.000006uterine fibroid222588250125882502Human
597150463GWAS1246537_Helectrocardiography QTL GWAS1246537 (human)1e-26electrocardiography222576332225763323Human
597150462GWAS1246536_Helectrocardiography QTL GWAS1246536 (human)6e-34electrocardiography222576332225763323Human
597150461GWAS1246535_Helectrocardiography QTL GWAS1246535 (human)2e-33electrocardiography222576332225763323Human
407125294GWAS774270_Hgut microbiome measurement QTL GWAS774270 (human)4e-09gut microbiome measurement222588774725887748Human
597349611GWAS1445685_Helectrocardiography QTL GWAS1445685 (human)2e-13electrocardiography222576332225763323Human
597341803GWAS1437877_HBrugada syndrome QTL GWAS1437877 (human)5e-09Brugada syndrome222576811225768113Human
407039152GWAS688128_Hmathematical ability QTL GWAS688128 (human)8e-10electrocardiography222576332225763323Human
597240810GWAS1336884_Hleft atrial function QTL GWAS1336884 (human)2e-10left atrial function222576332225763323Human
597227883GWAS1323957_Hatrial fibrillation QTL GWAS1323957 (human)9e-10atrial fibrillation222576811225768113Human
597152865GWAS1248939_Helectrocardiography QTL GWAS1248939 (human)4e-26electrocardiography222576332225763323Human
597152864GWAS1248938_Helectrocardiography QTL GWAS1248938 (human)1e-17electrocardiography222576332225763323Human
597336163GWAS1432237_Hatrial fibrillation QTL GWAS1432237 (human)1e-11atrial fibrillation222576811225768113Human
597200227GWAS1296301_Hleft atrial function QTL GWAS1296301 (human)4e-10left atrial function222576332225763323Human
597117420GWAS1213494_Hcognitive function measurement QTL GWAS1213494 (human)3e-09cognitive behavior trait (VT:0010450)222599398925993990Human
597618402GWAS1675262_Hatrial fibrillation QTL GWAS1675262 (human)4e-11atrial fibrillation222576413825764139Human
406948924GWAS597900_Htrans fatty acid measurement, trans/trans-18:2 fatty acid measurement QTL GWAS597900 (human)0.0000003trans fatty acid measurement, trans/trans-18:2 fatty acid measurementmilk trans fatty acid measurement (CMO:0000824)222579369025793691Human
597162216GWAS1258290_Hphenol sulfate measurement QTL GWAS1258290 (human)0.0000002phenol sulfate measurement222576680825766809Human

Markers in Region
D22S429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372226,315,583 - 26,315,839UniSTSGRCh37
GRCh372226,315,613 - 26,315,829UniSTSGRCh37
Build 362224,645,613 - 24,645,829RGDNCBI36
Celera2210,119,800 - 10,120,016RGD
Celera2210,119,770 - 10,120,026UniSTS
Cytogenetic Map22q12.1UniSTS
HuRef229,263,746 - 9,264,002UniSTS
HuRef229,263,776 - 9,263,992UniSTS
Marshfield Genetic Map2222.01RGD
Genethon Genetic Map2216.7UniSTS
TNG Radiation Hybrid Map224015.0UniSTS
deCODE Assembly Map2223.54UniSTS
Stanford-G3 RH Map22481.0UniSTS
GeneMap99-GB4 RH Map2260.39UniSTS
Whitehead-RH Map2262.8UniSTS
Whitehead-YAC Contig Map22 UniSTS
NCBI RH Map22105.4UniSTS
GeneMap99-G3 RH Map22481.0UniSTS
D22S1148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372226,346,420 - 26,346,607UniSTSGRCh37
Build 362224,676,420 - 24,676,607RGDNCBI36
Celera2210,150,594 - 10,150,781RGD
Cytogenetic Map22q12.1UniSTS
HuRef229,294,427 - 9,294,634UniSTS
Marshfield Genetic Map2221.47UniSTS
Marshfield Genetic Map2221.47RGD
Genethon Genetic Map2216.2UniSTS
deCODE Assembly Map2224.17UniSTS
D22S538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372226,199,912 - 26,200,020UniSTSGRCh37
Build 362224,529,912 - 24,530,020RGDNCBI36
Celera2210,004,061 - 10,004,169RGD
Cytogenetic Map22q12.1UniSTS
HuRef229,147,273 - 9,147,389UniSTS
D22S429  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q12.1UniSTS
Marshfield Genetic Map2222.01UniSTS
Genethon Genetic Map2216.7UniSTS
deCODE Assembly Map2223.54UniSTS
GeneMap99-GB4 RH Map2260.39UniSTS
Whitehead-RH Map2262.8UniSTS
Whitehead-YAC Contig Map22 UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1185 2235 2765 2232 4747 1468 1890 6 453 1685 292 2162 6512 6153 33 3592 1 618 1542 1338 165 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB042648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB075376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ271918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ310931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ310932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL079300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY077700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000335473   ⟹   ENSP00000334563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2225,742,188 - 26,031,045 (+)Ensembl
Ensembl Acc Id: ENST00000407587   ⟹   ENSP00000386096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2225,742,234 - 26,030,644 (+)Ensembl
Ensembl Acc Id: ENST00000418374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2225,770,027 - 26,027,766 (+)Ensembl
Ensembl Acc Id: ENST00000534908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2225,901,178 - 25,903,764 (+)Ensembl
Ensembl Acc Id: ENST00000536101   ⟹   ENSP00000441229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2225,742,144 - 26,027,766 (+)Ensembl
Ensembl Acc Id: ENST00000536204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2225,901,178 - 25,903,797 (+)Ensembl
Ensembl Acc Id: ENST00000539302   ⟹   ENSP00000437587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2225,761,034 - 26,030,586 (+)Ensembl
Ensembl Acc Id: ENST00000539544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2225,953,535 - 25,965,071 (+)Ensembl
Ensembl Acc Id: ENST00000540454   ⟹   ENSP00000441301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,027,049 - 26,030,644 (+)Ensembl
Ensembl Acc Id: ENST00000543971   ⟹   ENSP00000444262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2225,955,315 - 26,030,645 (+)Ensembl
RefSeq Acc Id: NM_001318245   ⟹   NP_001305174
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,742,188 - 26,031,045 (+)NCBI
CHM1_12226,097,552 - 26,386,572 (+)NCBI
T2T-CHM13v2.02226,203,366 - 26,493,307 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032608   ⟹   NP_115997
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,742,188 - 26,031,045 (+)NCBI
GRCh372226,138,117 - 26,453,345 (+)NCBI
Build 362224,468,120 - 24,757,007 (+)NCBI Archive
HuRef229,085,589 - 9,374,875 (+)ENTREZGENE
CHM1_12226,097,552 - 26,386,572 (+)NCBI
T2T-CHM13v2.02226,203,366 - 26,493,307 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530458   ⟹   XP_011528760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,742,188 - 26,031,045 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530459   ⟹   XP_011528761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,753,887 - 26,031,045 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530460   ⟹   XP_011528762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,761,138 - 26,031,045 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530461   ⟹   XP_011528763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,742,188 - 26,063,847 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530464   ⟹   XP_011528766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,742,188 - 26,031,045 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530465   ⟹   XP_011528767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,761,315 - 26,031,045 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530466   ⟹   XP_011528768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,742,188 - 25,965,071 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029013   ⟹   XP_016884502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,757,581 - 26,031,045 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029014   ⟹   XP_016884503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,742,188 - 26,031,045 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029015   ⟹   XP_016884504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,742,188 - 26,031,045 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029016   ⟹   XP_016884505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,785,452 - 26,031,045 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441551   ⟹   XP_047297507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,742,188 - 26,031,045 (+)NCBI
RefSeq Acc Id: XM_054326037   ⟹   XP_054182012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,203,366 - 26,493,307 (+)NCBI
RefSeq Acc Id: XM_054326038   ⟹   XP_054182013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,203,366 - 26,530,383 (+)NCBI
RefSeq Acc Id: XM_054326039   ⟹   XP_054182014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,215,073 - 26,493,307 (+)NCBI
RefSeq Acc Id: XM_054326040   ⟹   XP_054182015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,218,767 - 26,493,307 (+)NCBI
RefSeq Acc Id: XM_054326041   ⟹   XP_054182016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,222,323 - 26,493,307 (+)NCBI
RefSeq Acc Id: XM_054326042   ⟹   XP_054182017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,203,366 - 26,493,307 (+)NCBI
RefSeq Acc Id: XM_054326043   ⟹   XP_054182018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,203,366 - 26,493,307 (+)NCBI
RefSeq Acc Id: XM_054326044   ⟹   XP_054182019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,203,366 - 26,493,307 (+)NCBI
RefSeq Acc Id: XM_054326045   ⟹   XP_054182020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,203,366 - 26,493,307 (+)NCBI
RefSeq Acc Id: XM_054326046   ⟹   XP_054182021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,222,500 - 26,493,307 (+)NCBI
RefSeq Acc Id: XM_054326047   ⟹   XP_054182022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,203,366 - 26,434,227 (+)NCBI
RefSeq Acc Id: XM_054326048   ⟹   XP_054182023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,246,628 - 26,493,307 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001305174 (Get FASTA)   NCBI Sequence Viewer  
  NP_115997 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528760 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528761 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528762 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528763 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528766 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528767 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528768 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884502 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884503 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884504 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884505 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297507 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182012 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182013 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182014 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182015 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182016 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182017 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182018 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182019 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182020 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182021 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182022 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182023 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI44598 (Get FASTA)   NCBI Sequence Viewer  
  AAI50627 (Get FASTA)   NCBI Sequence Viewer  
  AAL75811 (Get FASTA)   NCBI Sequence Viewer  
  BAB55550 (Get FASTA)   NCBI Sequence Viewer  
  BAC04656 (Get FASTA)   NCBI Sequence Viewer  
  BAC16363 (Get FASTA)   NCBI Sequence Viewer  
  CAC70712 (Get FASTA)   NCBI Sequence Viewer  
  CAC70714 (Get FASTA)   NCBI Sequence Viewer  
  CAC81082 (Get FASTA)   NCBI Sequence Viewer  
  CAD38746 (Get FASTA)   NCBI Sequence Viewer  
  CAH18353 (Get FASTA)   NCBI Sequence Viewer  
  EAW59702 (Get FASTA)   NCBI Sequence Viewer  
  EAW59703 (Get FASTA)   NCBI Sequence Viewer  
  EAW59704 (Get FASTA)   NCBI Sequence Viewer  
  EAW59705 (Get FASTA)   NCBI Sequence Viewer  
  EAW59706 (Get FASTA)   NCBI Sequence Viewer  
  EAW59707 (Get FASTA)   NCBI Sequence Viewer  
  EAW59708 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000334563
  ENSP00000334563.8
  ENSP00000386096
  ENSP00000386096.2
  ENSP00000437587.1
  ENSP00000441229.1
  ENSP00000441301.1
  ENSP00000444262.1
GenBank Protein Q8IUG5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_115997   ⟸   NM_032608
- Peptide Label: isoform 2
- UniProtKB: Q96KR8 (UniProtKB/Swiss-Prot),   Q96KH2 (UniProtKB/Swiss-Prot),   Q8WWS0 (UniProtKB/Swiss-Prot),   Q8TE65 (UniProtKB/Swiss-Prot),   Q8NDI8 (UniProtKB/Swiss-Prot),   F5GYU7 (UniProtKB/Swiss-Prot),   F5GXR6 (UniProtKB/Swiss-Prot),   B2RWP3 (UniProtKB/Swiss-Prot),   Q96KR9 (UniProtKB/Swiss-Prot),   Q8IUG5 (UniProtKB/Swiss-Prot),   A0A075B6F5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528768   ⟸   XM_011530466
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011528763   ⟸   XM_011530461
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011528760   ⟸   XM_011530458
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011528766   ⟸   XM_011530464
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011528761   ⟸   XM_011530459
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011528762   ⟸   XM_011530460
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011528767   ⟸   XM_011530465
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: NP_001305174   ⟸   NM_001318245
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: XP_016884503   ⟸   XM_017029014
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016884504   ⟸   XM_017029015
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016884502   ⟸   XM_017029013
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884505   ⟸   XM_017029016
- Peptide Label: isoform X9
- Sequence:
Ensembl Acc Id: ENSP00000444262   ⟸   ENST00000543971
Ensembl Acc Id: ENSP00000334563   ⟸   ENST00000335473
Ensembl Acc Id: ENSP00000441229   ⟸   ENST00000536101
Ensembl Acc Id: ENSP00000437587   ⟸   ENST00000539302
Ensembl Acc Id: ENSP00000386096   ⟸   ENST00000407587
Ensembl Acc Id: ENSP00000441301   ⟸   ENST00000540454
RefSeq Acc Id: XP_047297507   ⟸   XM_047441551
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054182013   ⟸   XM_054326038
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054182012   ⟸   XM_054326037
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054182018   ⟸   XM_054326043
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054182017   ⟸   XM_054326042
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054182019   ⟸   XM_054326044
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054182020   ⟸   XM_054326045
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054182022   ⟸   XM_054326047
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054182014   ⟸   XM_054326039
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054182015   ⟸   XM_054326040
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054182016   ⟸   XM_054326041
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054182021   ⟸   XM_054326046
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054182023   ⟸   XM_054326048
- Peptide Label: isoform X9
Protein Domains
IQ   Myosin motor

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IUG5-F1-model_v2 AlphaFold Q8IUG5 1-2567 view protein structure

Promoters
RGD ID:6800168
Promoter ID:HG_KWN:42102
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000335473,   NM_032608
Position:
Human AssemblyChrPosition (strand)Source
Build 362224,467,861 - 24,468,361 (+)MPROMDB
RGD ID:6812205
Promoter ID:HG_ACW:51567
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:MYO18B.IAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362224,572,196 - 24,572,696 (+)MPROMDB
RGD ID:13603548
Promoter ID:EPDNEW_H27958
Type:initiation region
Name:MYO18B_1
Description:myosin XVIIIB
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27959  EPDNEW_H27960  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,742,191 - 25,742,251EPDNEW
RGD ID:13603550
Promoter ID:EPDNEW_H27959
Type:multiple initiation site
Name:MYO18B_2
Description:myosin XVIIIB
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27958  EPDNEW_H27960  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,742,302 - 25,742,362EPDNEW
RGD ID:13603552
Promoter ID:EPDNEW_H27960
Type:initiation region
Name:MYO18B_3
Description:myosin XVIIIB
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27958  EPDNEW_H27959  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,761,052 - 25,761,112EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18150 AgrOrtholog
COSMIC MYO18B COSMIC
Ensembl Genes ENSG00000133454 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000335473 ENTREZGENE
  ENST00000335473.12 UniProtKB/Swiss-Prot
  ENST00000407587 ENTREZGENE
  ENST00000407587.6 UniProtKB/Swiss-Prot
  ENST00000536101.5 UniProtKB/Swiss-Prot
  ENST00000539302.5 UniProtKB/TrEMBL
  ENST00000540454.1 UniProtKB/TrEMBL
  ENST00000543971.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.820 UniProtKB/Swiss-Prot
  1.20.58.530 UniProtKB/Swiss-Prot
  3.40.850.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.20.240.20 UniProtKB/Swiss-Prot
  Myosin VI head, motor domain, U50 subdomain UniProtKB/Swiss-Prot
  Myosin, subunit A UniProtKB/Swiss-Prot
GTEx ENSG00000133454 GTEx
HGNC ID HGNC:18150 ENTREZGENE
Human Proteome Map MYO18B Human Proteome Map
InterPro Kinesin_motor_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin-XVI UniProtKB/TrEMBL
  Myosin_head_motor_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYSc_Myo18 UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84700 UniProtKB/Swiss-Prot
NCBI Gene 84700 ENTREZGENE
OMIM 607295 OMIM
PANTHER MYOSIN HEAVY CHAIN, NON-MUSCLE UniProtKB/Swiss-Prot
  PTHR45615:SF8 UniProtKB/Swiss-Prot
  UNCONVENTIONAL MYOSIN-XVI UniProtKB/TrEMBL
  UNCONVENTIONAL MYOSIN-XVI UniProtKB/TrEMBL
Pfam Myosin_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38300 PharmGKB
PRINTS MYOSINHEAVY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MYOSIN_MOTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50096 UniProtKB/Swiss-Prot
SMART MYSc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075B6F5 ENTREZGENE
  A0A2Q2TCQ6_HUMAN UniProtKB/TrEMBL
  B2RWP3 ENTREZGENE
  F5GXR6 ENTREZGENE
  F5GYU7 ENTREZGENE
  F5H6I8_HUMAN UniProtKB/TrEMBL
  H0YGQ4_HUMAN UniProtKB/TrEMBL
  L8EAK4_HUMAN UniProtKB/TrEMBL
  MY18B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8NDI8 ENTREZGENE
  Q8TE65 ENTREZGENE
  Q8WWS0 ENTREZGENE
  Q96KH2 ENTREZGENE
  Q96KR8 ENTREZGENE
  Q96KR9 ENTREZGENE
UniProt Secondary A0A075B6F5 UniProtKB/Swiss-Prot
  B2RWP3 UniProtKB/Swiss-Prot
  F5GXR6 UniProtKB/Swiss-Prot
  F5GYU7 UniProtKB/Swiss-Prot
  Q8NDI8 UniProtKB/Swiss-Prot
  Q8TE65 UniProtKB/Swiss-Prot
  Q8WWS0 UniProtKB/Swiss-Prot
  Q96KH2 UniProtKB/Swiss-Prot
  Q96KR8 UniProtKB/Swiss-Prot
  Q96KR9 UniProtKB/Swiss-Prot