SRP72 (signal recognition particle 72) - Rat Genome Database

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Gene: SRP72 (signal recognition particle 72) Homo sapiens
Analyze
Symbol: SRP72
Name: signal recognition particle 72
RGD ID: 1314481
HGNC Page HGNC:11303
Description: Enables 7S RNA binding activity; TPR domain binding activity; and signal recognition particle binding activity. Contributes to ribosome binding activity. Predicted to be involved in SRP-dependent cotranslational protein targeting to membrane. Located in endoplasmic reticulum. Part of signal recognition particle, endoplasmic reticulum targeting.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BMFF; BMFS1; epididymis luminal protein 103; HEL103; signal recognition particle 72 kDa protein; signal recognition particle 72kD; signal recognition particle 72kDa; signal recognition particle subunit SRP72
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: SRP72P1   SRP72P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38456,467,617 - 56,503,681 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl456,467,617 - 56,503,681 (+)EnsemblGRCh38hg38GRCh38
GRCh37457,333,783 - 57,369,847 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36457,028,519 - 57,064,604 (+)NCBINCBI36Build 36hg18NCBI36
Build 34457,174,717 - 57,210,775NCBI
Celera454,840,136 - 54,876,261 (+)NCBICelera
Cytogenetic Map4q12NCBI
HuRef453,287,903 - 53,323,943 (+)NCBIHuRef
CHM1_1457,368,898 - 57,404,983 (+)NCBICHM1_1
T2T-CHM13v2.0459,955,623 - 59,991,687 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
5-fluorouracil  (EXP)
acrolein  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
atazanavir sulfate  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
buspirone  (ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
chenodeoxycholic acid  (EXP)
chlorpyrifos  (ISO)
coumarin  (EXP)
cyclosporin A  (EXP)
deguelin  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (EXP)
dibenzo[a,l]pyrene  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
disodium selenite  (EXP)
ethanol  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
glafenine  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glyphosate  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
inulin  (ISO)
ivermectin  (EXP)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
nefazodone  (EXP)
nickel sulfate  (EXP)
oxaliplatin  (EXP)
ozone  (EXP)
p-menthan-3-ol  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
picoxystrobin  (EXP)
resveratrol  (ISO)
rimonabant  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:2830980   PMID:8125298   PMID:8388879   PMID:8889548   PMID:9224693   PMID:9399828   PMID:9857079   PMID:10618370   PMID:10964510   PMID:12477932   PMID:14702039   PMID:15146197  
PMID:15231748   PMID:15588816   PMID:16672232   PMID:17254600   PMID:17643375   PMID:18029348   PMID:18089836   PMID:18441046   PMID:18654987   PMID:20467437   PMID:20729213   PMID:21073748  
PMID:21145461   PMID:21873635   PMID:21907836   PMID:22541560   PMID:22586326   PMID:22658674   PMID:22681889   PMID:22837378   PMID:22863883   PMID:22939629   PMID:22944692   PMID:23048028  
PMID:23125841   PMID:23349634   PMID:23414517   PMID:23667531   PMID:24457600   PMID:24778252   PMID:24965446   PMID:25277244   PMID:25315684   PMID:25693804   PMID:25921289   PMID:25963833  
PMID:26186194   PMID:26343856   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26831064   PMID:27248496   PMID:27684187   PMID:27899666   PMID:28077445   PMID:28369529  
PMID:28494188   PMID:28514442   PMID:28515276   PMID:28581483   PMID:28977666   PMID:29117863   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29507755   PMID:29509190   PMID:29568061  
PMID:29845934   PMID:29872149   PMID:30209976   PMID:30425250   PMID:30463901   PMID:30471916   PMID:30649417   PMID:30711629   PMID:30833792   PMID:30948266   PMID:30997501   PMID:31048545  
PMID:31073040   PMID:31091453   PMID:31298480   PMID:31300519   PMID:31478661   PMID:31527615   PMID:31586073   PMID:31732153   PMID:32129710   PMID:32176739   PMID:32235678   PMID:32296183  
PMID:32353859   PMID:32707033   PMID:32788342   PMID:32807901   PMID:32877691   PMID:32994395   PMID:33022573   PMID:33060197   PMID:33301849   PMID:33306668   PMID:33545068   PMID:33658012  
PMID:33742100   PMID:33961781   PMID:34029587   PMID:34079125   PMID:34159380   PMID:34445801   PMID:35008187   PMID:35013218   PMID:35140242   PMID:35256949   PMID:35271311   PMID:35384245  
PMID:35439318   PMID:35509820   PMID:35652658   PMID:35831314   PMID:35944360   PMID:36057605   PMID:36215168   PMID:36244648   PMID:36282215   PMID:36373674   PMID:36490346   PMID:36526897  
PMID:36574265   PMID:36604567   PMID:36912080   PMID:36964488   PMID:37536630   PMID:37774976   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
SRP72
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38456,467,617 - 56,503,681 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl456,467,617 - 56,503,681 (+)EnsemblGRCh38hg38GRCh38
GRCh37457,333,783 - 57,369,847 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36457,028,519 - 57,064,604 (+)NCBINCBI36Build 36hg18NCBI36
Build 34457,174,717 - 57,210,775NCBI
Celera454,840,136 - 54,876,261 (+)NCBICelera
Cytogenetic Map4q12NCBI
HuRef453,287,903 - 53,323,943 (+)NCBIHuRef
CHM1_1457,368,898 - 57,404,983 (+)NCBICHM1_1
T2T-CHM13v2.0459,955,623 - 59,991,687 (+)NCBIT2T-CHM13v2.0
Srp72
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39577,122,548 - 77,147,782 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl577,122,530 - 77,147,784 (+)EnsemblGRCm39 Ensembl
GRCm38576,974,701 - 76,999,935 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl576,974,683 - 76,999,937 (+)EnsemblGRCm38mm10GRCm38
MGSCv37577,403,726 - 77,428,960 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36578,049,475 - 78,074,709 (+)NCBIMGSCv36mm8
Celera574,242,566 - 74,267,829 (+)NCBICelera
Cytogenetic Map5C3.3NCBI
cM Map541.45NCBI
Srp72
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81431,522,424 - 31,549,978 (-)NCBIGRCr8
mRatBN7.21431,168,175 - 31,195,717 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1431,168,293 - 31,195,729 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1431,546,080 - 31,573,369 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01432,854,412 - 32,881,701 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01431,339,085 - 31,366,374 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01433,447,583 - 33,453,788 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01433,325,108 - 33,351,416 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41433,462,627 - 33,489,312 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1430,481,417 - 30,508,939 (-)NCBICelera
Cytogenetic Map14p11NCBI
Srp72
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544714,519,064 - 14,552,758 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544714,519,978 - 14,552,758 (-)NCBIChiLan1.0ChiLan1.0
SRP72
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2373,276,204 - 73,312,588 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1473,481,727 - 73,518,107 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0467,420,551 - 67,456,065 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1473,989,304 - 74,025,906 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl473,989,304 - 74,025,906 (-)Ensemblpanpan1.1panPan2
SRP72
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11348,688,295 - 48,717,826 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1348,688,295 - 48,717,824 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1348,578,763 - 48,608,289 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01349,302,508 - 49,332,068 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1349,302,504 - 49,332,069 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11348,974,564 - 49,004,098 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01348,503,375 - 48,532,917 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01349,449,469 - 49,479,000 (+)NCBIUU_Cfam_GSD_1.0
Srp72
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528527,576,494 - 27,611,170 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648218,687,046 - 18,721,757 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648218,687,088 - 18,721,734 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SRP72
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl855,729,116 - 55,762,015 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1855,729,202 - 55,762,298 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2857,788,069 - 57,820,984 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SRP72
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1712,127,817 - 12,162,992 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl712,126,607 - 12,162,951 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606612,801,516 - 12,838,175 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Srp72
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476112,917,855 - 12,949,457 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476112,917,855 - 12,949,423 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SRP72
502 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006947.4(SRP72):c.1064_1065del (p.Thr355fs) microsatellite Autosomal dominant aplasia and myelodysplasia [RCV000024352] Chr4:56484838..56484839 [GRCh38]
Chr4:57351004..57351005 [GRCh37]
Chr4:4q12		 pathogenic
NM_006947.4(SRP72):c.620G>A (p.Arg207His) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000024353]|not provided [RCV001852568] Chr4:56476680 [GRCh38]
Chr4:57342846 [GRCh37]
Chr4:4q12		 pathogenic|uncertain significance
NM_006947.3(SRP72):c.1640+683A>G single nucleotide variant Lung cancer [RCV000094907] Chr4:56492251 [GRCh38]
Chr4:57358417 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3 copy number gain See cases [RCV000050683] Chr4:44356201..62245882 [GRCh38]
Chr4:44358218..63111600 [GRCh37]
Chr4:44052975..62794195 [NCBI36]
Chr4:4p13-q13.1		 pathogenic
GRCh38/hg38 4q12(chr4:56301201-56829410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051598]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051598]|See cases [RCV000051598] Chr4:56301201..56829410 [GRCh38]
Chr4:57167367..57695576 [GRCh37]
Chr4:56862124..57390333 [NCBI36]
Chr4:4q12		 uncertain significance
GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3 copy number gain See cases [RCV000051771] Chr4:51831622..66991489 [GRCh38]
Chr4:52697788..67857207 [GRCh37]
Chr4:52392545..67539802 [NCBI36]
Chr4:4q12-13.2		 pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3		 pathogenic
GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3 copy number gain See cases [RCV000051773] Chr4:51899860..59984479 [GRCh38]
Chr4:52766026..60850197 [GRCh37]
Chr4:52460783..60532792 [NCBI36]
Chr4:4q12-13.1		 pathogenic
GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1 copy number loss See cases [RCV000053265] Chr4:52639018..59984479 [GRCh38]
Chr4:53505185..60850197 [GRCh37]
Chr4:53199942..60532792 [NCBI36]
Chr4:4q12-13.1		 pathogenic
GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1 copy number loss See cases [RCV000053266] Chr4:54198601..62270115 [GRCh38]
Chr4:55064768..63135833 [GRCh37]
Chr4:54759525..62818428 [NCBI36]
Chr4:4q12-13.1		 pathogenic
NM_006947.4(SRP72):c.1552G>A (p.Val518Ile) single nucleotide variant not provided [RCV003221472] Chr4:56491480 [GRCh38]
Chr4:57357646 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh38/hg38 4q12(chr4:56248102-57218522)x4 copy number gain See cases [RCV000137649] Chr4:56248102..57218522 [GRCh38]
Chr4:57114268..58084688 [GRCh37]
Chr4:56809025..57779445 [NCBI36]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000310610]|not provided [RCV000908698]|not specified [RCV000194579] Chr4:56491517 [GRCh38]
Chr4:57357683 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.1704A>G (p.Pro568=) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000263972]|not provided [RCV002057935]|not specified [RCV001821068] Chr4:56500561 [GRCh38]
Chr4:57366727 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.*635C>T single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000260891] Chr4:56502496 [GRCh38]
Chr4:57368662 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*24G>A single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000262862] Chr4:56501885 [GRCh38]
Chr4:57368051 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.*1018A>G single nucleotide variant not specified [RCV000193556] Chr4:56502879 [GRCh38]
Chr4:57369045 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1871C>T (p.Thr624Ile) single nucleotide variant not provided [RCV003221849]|not specified [RCV000192975] Chr4:56501716 [GRCh38]
Chr4:57367882 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.883G>A (p.Glu295Lys) single nucleotide variant not specified [RCV000193957] Chr4:56483196 [GRCh38]
Chr4:57349362 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.892C>T (p.Leu298Phe) single nucleotide variant not specified [RCV000194985] Chr4:56483205 [GRCh38]
Chr4:57349371 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*780C>T single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000273854] Chr4:56502641 [GRCh38]
Chr4:57368807 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.973A>G (p.Lys325Glu) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000279818]|not provided [RCV003311774] Chr4:56484751 [GRCh38]
Chr4:57350917 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006947.4(SRP72):c.406G>A (p.Val136Ile) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000281124]|not provided [RCV001510023]|not specified [RCV001821064] Chr4:56474105 [GRCh38]
Chr4:57340271 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006947.4(SRP72):c.23G>A (p.Gly8Glu) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000272329]|Inborn genetic diseases [RCV003258787]|not provided [RCV003718218] Chr4:56467658 [GRCh38]
Chr4:57333824 [GRCh37]
Chr4:4q12		 benign|likely benign|uncertain significance
NM_006947.4(SRP72):c.133G>A (p.Val45Ile) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000266588]|SRP72-related condition [RCV003409552]|not provided [RCV001355587]|not specified [RCV001821063] Chr4:56469676 [GRCh38]
Chr4:57335842 [GRCh37]
Chr4:4q12		 benign|uncertain significance
NM_006947.4(SRP72):c.*386G>A single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000396841] Chr4:56502247 [GRCh38]
Chr4:57368413 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.*194G>A single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000333970] Chr4:56502055 [GRCh38]
Chr4:57368221 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006947.4(SRP72):c.*558T>C single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000398602] Chr4:56502419 [GRCh38]
Chr4:57368585 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.*637TA[9] microsatellite Autosomal dominant aplasia and myelodysplasia [RCV000300710] Chr4:56502496..56502497 [GRCh38]
Chr4:57368662..57368663 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.2004A>G (p.Lys668=) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000355312]|not provided [RCV001405951]|not specified [RCV000503122] Chr4:56501849 [GRCh38]
Chr4:57368015 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.294G>A (p.Leu98=) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000378058]|not provided [RCV002061246] Chr4:56471783 [GRCh38]
Chr4:57337949 [GRCh37]
Chr4:4q12		 benign|uncertain significance
NM_006947.4(SRP72):c.1410A>G (p.Leu470=) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000401507]|not provided [RCV001514927] Chr4:56490422 [GRCh38]
Chr4:57356588 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.686A>G (p.His229Arg) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000319836]|SRP72-related condition [RCV003972472]|not provided [RCV001511218] Chr4:56478422 [GRCh38]
Chr4:57344588 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.*1603A>G single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000382011] Chr4:56503464 [GRCh38]
Chr4:57369630 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.*407T>C single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000288069] Chr4:56502268 [GRCh38]
Chr4:57368434 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006947.4(SRP72):c.1671A>G (p.Lys557=) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000304944]|not provided [RCV001509698]|not specified [RCV001821067] Chr4:56495387 [GRCh38]
Chr4:57361553 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.144G>T (p.Leu48=) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000321084]|not provided [RCV000908697] Chr4:56469687 [GRCh38]
Chr4:57335853 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.*972G>A single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000382993] Chr4:56502833 [GRCh38]
Chr4:57368999 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.1803G>A (p.Gly601=) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000321410]|SRP72-related condition [RCV003970009]|not provided [RCV001470594]|not specified [RCV000501088] Chr4:56500660 [GRCh38]
Chr4:57366826 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.*606A>T single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000340523] Chr4:56502467 [GRCh38]
Chr4:57368633 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1698T>C (p.Tyr566=) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000361991]|SRP72-related condition [RCV003970008]|not provided [RCV001452033]|not specified [RCV000504137] Chr4:56500555 [GRCh38]
Chr4:57366721 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.*1764A>G single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000342768] Chr4:56503625 [GRCh38]
Chr4:57369791 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000363461]|SRP72-related condition [RCV003912479]|not provided [RCV001498849]|not specified [RCV000502255] Chr4:56467693 [GRCh38]
Chr4:57333859 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.*221A>G single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000386129] Chr4:56502082 [GRCh38]
Chr4:57368248 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006947.4(SRP72):c.21G>T (p.Gly7=) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000364512]|not provided [RCV001518009] Chr4:56467656 [GRCh38]
Chr4:57333822 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1225-6G>A single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000293187] Chr4:56489382 [GRCh38]
Chr4:57355548 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006947.4(SRP72):c.*1313C>G single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000325037] Chr4:56503174 [GRCh38]
Chr4:57369340 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.37G>T (p.Ala13Ser) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000325091]|not provided [RCV001861232] Chr4:56467672 [GRCh38]
Chr4:57333838 [GRCh37]
Chr4:4q12		 benign|uncertain significance
NM_006947.4(SRP72):c.*442A>G single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000345332] Chr4:56502303 [GRCh38]
Chr4:57368469 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.*227G>A single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000294141] Chr4:56502088 [GRCh38]
Chr4:57368254 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*173T>C single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000295395]|not provided [RCV001643055] Chr4:56502034 [GRCh38]
Chr4:57368200 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1650T>C (p.Asp550=) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000391409]|not provided [RCV002057934]|not specified [RCV001821066] Chr4:56495366 [GRCh38]
Chr4:57361532 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.19G>T (p.Gly7Trp) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000391775]|not provided [RCV000962859] Chr4:56467654 [GRCh38]
Chr4:57333820 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.*622_*649del deletion Autosomal dominant aplasia and myelodysplasia [RCV000393078] Chr4:56502469..56502496 [GRCh38]
Chr4:57368635..57368662 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.20G>A (p.Gly7Glu) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000312195]|not provided [RCV001850853]|not specified [RCV001821062] Chr4:56467655 [GRCh38]
Chr4:57333821 [GRCh37]
Chr4:4q12		 benign|uncertain significance
NM_006947.4(SRP72):c.*839T>C single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000330791] Chr4:56502700 [GRCh38]
Chr4:57368866 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1380T>C (p.Tyr460=) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000350488]|not provided [RCV000897840] Chr4:56490392 [GRCh38]
Chr4:57356558 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.*732A>G single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000370673] Chr4:56502593 [GRCh38]
Chr4:57368759 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.789A>G (p.Leu263=) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000372097]|SRP72-related condition [RCV003957806]|not provided [RCV002057933]|not specified [RCV001821065] Chr4:56478613 [GRCh38]
Chr4:57344779 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.*139G>A single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000372740]|not provided [RCV001692002] Chr4:56502000 [GRCh38]
Chr4:57368166 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.*1227_*1232del deletion Autosomal dominant aplasia and myelodysplasia [RCV000272257] Chr4:56503085..56503090 [GRCh38]
Chr4:57369251..57369256 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*637TA[11] microsatellite Autosomal dominant aplasia and myelodysplasia [RCV000353198]|not provided [RCV003430892] Chr4:56502496..56502497 [GRCh38]
Chr4:57368662..57368663 [GRCh37]
Chr4:4q12		 benign|uncertain significance
NM_006947.4(SRP72):c.1184T>A (p.Ile395Lys) single nucleotide variant not provided [RCV002283261] Chr4:56487973 [GRCh38]
Chr4:57354139 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1502+266C>G single nucleotide variant not provided [RCV001548174] Chr4:56490911 [GRCh38]
Chr4:57357077 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1640+6dup duplication Autosomal dominant aplasia and myelodysplasia [RCV000363241]|not provided [RCV000950121]|not specified [RCV000502048] Chr4:56491573..56491574 [GRCh38]
Chr4:57357739..57357740 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.*125GT[1] microsatellite Autosomal dominant aplasia and myelodysplasia [RCV000315753] Chr4:56501985..56501986 [GRCh38]
Chr4:57368151..57368152 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*321A>G single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000346644] Chr4:56502182 [GRCh38]
Chr4:57368348 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*606AT[10] microsatellite Autosomal dominant aplasia and myelodysplasia [RCV000305756] Chr4:56502465..56502466 [GRCh38]
Chr4:57368631..57368632 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*1678C>T single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000285487] Chr4:56503539 [GRCh38]
Chr4:57369705 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*1769T>G single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV000376371] Chr4:56503630 [GRCh38]
Chr4:57369796 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*637TA[7] microsatellite Autosomal dominant aplasia and myelodysplasia [RCV000313798] Chr4:56502497..56502498 [GRCh38]
Chr4:57368663..57368664 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001151985]|not provided [RCV000445168]|not specified [RCV000500157] Chr4:56467655 [GRCh38]
Chr4:57333821 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.433G>C (p.Glu145Gln) single nucleotide variant not provided [RCV000444375] Chr4:56474132 [GRCh38]
Chr4:57340298 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1425-4T>C single nucleotide variant not provided [RCV002056882]|not specified [RCV000501225] Chr4:56490564 [GRCh38]
Chr4:57356730 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.1503-4A>G single nucleotide variant not specified [RCV000501663] Chr4:56491427 [GRCh38]
Chr4:57357593 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.19G>C (p.Gly7Arg) single nucleotide variant not provided [RCV001764497]|not specified [RCV000499382] Chr4:56467654 [GRCh38]
Chr4:57333820 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1448C>A (p.Thr483Asn) single nucleotide variant not provided [RCV001340856]|not specified [RCV000499517] Chr4:56490591 [GRCh38]
Chr4:57356757 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.191C>T (p.Ala64Val) single nucleotide variant Inborn genetic diseases [RCV003159632]|not provided [RCV001857170]|not specified [RCV000504339] Chr4:56469734 [GRCh38]
Chr4:57335900 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_006947.4(SRP72):c.872C>T (p.Ala291Val) single nucleotide variant not provided [RCV001857171]|not specified [RCV000502992] Chr4:56483185 [GRCh38]
Chr4:57349351 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.370C>T (p.Arg124Cys) single nucleotide variant not provided [RCV003565428]|not specified [RCV000500884] Chr4:56474069 [GRCh38]
Chr4:57340235 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q12(chr4:57204960-57390650)x3 copy number gain not provided [RCV000743590] Chr4:57204960..57390650 [GRCh37]
Chr4:4q12		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_006947.4(SRP72):c.1640+88A>G single nucleotide variant not provided [RCV001681985] Chr4:56491656 [GRCh38]
Chr4:57357822 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.825+204G>C single nucleotide variant not provided [RCV001609495] Chr4:56478853 [GRCh38]
Chr4:57345019 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.231-273G>T single nucleotide variant not provided [RCV001666265] Chr4:56471447 [GRCh38]
Chr4:57337613 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1321-163C>G single nucleotide variant not provided [RCV001680568] Chr4:56490170 [GRCh38]
Chr4:57356336 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.355-279dup duplication not provided [RCV001667803] Chr4:56473765..56473766 [GRCh38]
Chr4:57339931..57339932 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1170T>C (p.Ser390=) single nucleotide variant not provided [RCV001575299]|not specified [RCV001821910] Chr4:56487959 [GRCh38]
Chr4:57354125 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.610+147C>T single nucleotide variant not provided [RCV001709461] Chr4:56474538 [GRCh38]
Chr4:57340704 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1839-41G>A single nucleotide variant not provided [RCV001669270] Chr4:56501643 [GRCh38]
Chr4:57367809 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1838+251T>C single nucleotide variant not provided [RCV001569866] Chr4:56500946 [GRCh38]
Chr4:57367112 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1938C>G (p.His646Gln) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001152087] Chr4:56501783 [GRCh38]
Chr4:57367949 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.7A>G (p.Ser3Gly) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001151984] Chr4:56467642 [GRCh38]
Chr4:57333808 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.29C>T (p.Ser10Leu) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001153246]|not provided [RCV003669206] Chr4:56467664 [GRCh38]
Chr4:57333830 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001157548]|not provided [RCV002032457] Chr4:56491564 [GRCh38]
Chr4:57357730 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.371G>A (p.Arg124His) single nucleotide variant not provided [RCV003105082] Chr4:56474070 [GRCh38]
Chr4:57340236 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1678+196C>T single nucleotide variant not provided [RCV001549875] Chr4:56495590 [GRCh38]
Chr4:57361756 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1641-78_1641-75del deletion not provided [RCV001551864] Chr4:56495279..56495282 [GRCh38]
Chr4:57361445..57361448 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.230+216dup duplication not provided [RCV001553112] Chr4:56469972..56469973 [GRCh38]
Chr4:57336138..57336139 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.610+163del deletion not provided [RCV001655065] Chr4:56474543 [GRCh38]
Chr4:57340709 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.611-202C>A single nucleotide variant not provided [RCV001690324] Chr4:56476469 [GRCh38]
Chr4:57342635 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1839-45C>T single nucleotide variant not provided [RCV001655380] Chr4:56501639 [GRCh38]
Chr4:57367805 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.826-23A>G single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001810150]|not provided [RCV001617912] Chr4:56483116 [GRCh38]
Chr4:57349282 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1502+220A>C single nucleotide variant not provided [RCV001593731] Chr4:56490865 [GRCh38]
Chr4:57357031 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.643-227T>C single nucleotide variant not provided [RCV001587080] Chr4:56478152 [GRCh38]
Chr4:57344318 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1225-182C>T single nucleotide variant not provided [RCV001710464] Chr4:56489206 [GRCh38]
Chr4:57355372 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.610+328T>C single nucleotide variant not provided [RCV001676448] Chr4:56474719 [GRCh38]
Chr4:57340885 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1640+267A>G single nucleotide variant not provided [RCV001594285] Chr4:56491835 [GRCh38]
Chr4:57358001 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.610+139G>A single nucleotide variant not provided [RCV001578137] Chr4:56474530 [GRCh38]
Chr4:57340696 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1838+281dup duplication not provided [RCV001694640] Chr4:56500972..56500973 [GRCh38]
Chr4:57367138..57367139 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1838+265_1838+266insGT insertion not provided [RCV001650711] Chr4:56500959..56500960 [GRCh38]
Chr4:57367125..57367126 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1678+9_1678+12dup duplication not provided [RCV000896597] Chr4:56495401..56495402 [GRCh38]
Chr4:57361567..57361568 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.*1483A>G single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001157668] Chr4:56503344 [GRCh38]
Chr4:57369510 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1678+306C>G single nucleotide variant not provided [RCV001551526] Chr4:56495700 [GRCh38]
Chr4:57361866 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1641-46A>C single nucleotide variant not provided [RCV001688653] Chr4:56495311 [GRCh38]
Chr4:57361477 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1087-172A>G single nucleotide variant not provided [RCV001719237] Chr4:56486153 [GRCh38]
Chr4:57352319 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.230+215_230+216del deletion not provided [RCV001595753] Chr4:56469973..56469974 [GRCh38]
Chr4:57336139..57336140 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.957+123T>G single nucleotide variant not provided [RCV001553260] Chr4:56483393 [GRCh38]
Chr4:57349559 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.746A>G (p.Tyr249Cys) single nucleotide variant not provided [RCV003237231] Chr4:56478482 [GRCh38]
Chr4:57344648 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.611-295_611-291del deletion not provided [RCV001560063] Chr4:56476375..56476379 [GRCh38]
Chr4:57342541..57342545 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1838+121T>C single nucleotide variant not provided [RCV001594026] Chr4:56500816 [GRCh38]
Chr4:57366982 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.958-139A>G single nucleotide variant not provided [RCV001678339] Chr4:56484597 [GRCh38]
Chr4:57350763 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.355-139T>C single nucleotide variant not provided [RCV001566670] Chr4:56473915 [GRCh38]
Chr4:57340081 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1502+161C>T single nucleotide variant not provided [RCV001636451] Chr4:56490806 [GRCh38]
Chr4:57356972 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.643-225del deletion not provided [RCV001722877] Chr4:56478154 [GRCh38]
Chr4:57344320 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1160-179T>G single nucleotide variant not provided [RCV001594011] Chr4:56487770 [GRCh38]
Chr4:57353936 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.230+122dup duplication not provided [RCV001685237] Chr4:56469888..56469889 [GRCh38]
Chr4:57336054..57336055 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.109+71G>A single nucleotide variant not provided [RCV001650046] Chr4:56467815 [GRCh38]
Chr4:57333981 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.354+179A>G single nucleotide variant not provided [RCV001721786] Chr4:56472022 [GRCh38]
Chr4:57338188 [GRCh37]
Chr4:4q12		 benign
GRCh37/hg19 4q12(chr4:57067953-57957651)x3 copy number gain not provided [RCV001005548] Chr4:57067953..57957651 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1838+74G>A single nucleotide variant not provided [RCV001581248] Chr4:56500769 [GRCh38]
Chr4:57366935 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.230+307_230+310del deletion not provided [RCV001673562] Chr4:56470079..56470082 [GRCh38]
Chr4:57336245..57336248 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1321-345G>T single nucleotide variant not provided [RCV001637738] Chr4:56489988 [GRCh38]
Chr4:57356154 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.355-111T>C single nucleotide variant not provided [RCV001620775] Chr4:56473943 [GRCh38]
Chr4:57340109 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.643-293A>T single nucleotide variant not provided [RCV001676749] Chr4:56478086 [GRCh38]
Chr4:57344252 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.610+332T>A single nucleotide variant not provided [RCV001722037] Chr4:56474723 [GRCh38]
Chr4:57340889 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.957+263T>C single nucleotide variant not provided [RCV001687567] Chr4:56483533 [GRCh38]
Chr4:57349699 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.230+215_230+216dup duplication not provided [RCV001654767] Chr4:56469972..56469973 [GRCh38]
Chr4:57336138..57336139 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.610+163dup duplication not provided [RCV001659001] Chr4:56474542..56474543 [GRCh38]
Chr4:57340708..57340709 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.*633T>C single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001155965] Chr4:56502494 [GRCh38]
Chr4:57368660 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.979T>C (p.Ser327Pro) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001155845] Chr4:56484757 [GRCh38]
Chr4:57350923 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*1241C>T single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001157665] Chr4:56503102 [GRCh38]
Chr4:57369268 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*1385A>G single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001157666] Chr4:56503246 [GRCh38]
Chr4:57369412 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*1478C>A single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001157667] Chr4:56503339 [GRCh38]
Chr4:57369505 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.110-5T>G single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001153247]|not provided [RCV001759910] Chr4:56469648 [GRCh38]
Chr4:57335814 [GRCh37]
Chr4:4q12		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006947.4(SRP72):c.*505C>T single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001153352] Chr4:56502366 [GRCh38]
Chr4:57368532 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*622G>A single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001155963] Chr4:56502483 [GRCh38]
Chr4:57368649 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.610+35C>T single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001810120]|not provided [RCV001613770] Chr4:56474426 [GRCh38]
Chr4:57340592 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.610+296G>A single nucleotide variant not provided [RCV001710174] Chr4:56474687 [GRCh38]
Chr4:57340853 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.109+232C>G single nucleotide variant not provided [RCV001695238] Chr4:56467976 [GRCh38]
Chr4:57334142 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1839-260_1839-259del microsatellite not provided [RCV001669351] Chr4:56501422..56501423 [GRCh38]
Chr4:57367588..57367589 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1224+289C>T single nucleotide variant not provided [RCV001695403] Chr4:56488302 [GRCh38]
Chr4:57354468 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1678+67A>C single nucleotide variant not provided [RCV001696145] Chr4:56495461 [GRCh38]
Chr4:57361627 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1159+276A>G single nucleotide variant not provided [RCV001534332] Chr4:56486673 [GRCh38]
Chr4:57352839 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.109+202C>G single nucleotide variant not provided [RCV001538463] Chr4:56467946 [GRCh38]
Chr4:57334112 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1679-136T>G single nucleotide variant not provided [RCV001537124] Chr4:56500400 [GRCh38]
Chr4:57366566 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1224+276A>G single nucleotide variant not provided [RCV001585075] Chr4:56488289 [GRCh38]
Chr4:57354455 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1086+59T>C single nucleotide variant not provided [RCV001669724] Chr4:56484923 [GRCh38]
Chr4:57351089 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.*142A>G single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001152088] Chr4:56502003 [GRCh38]
Chr4:57368169 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*624A>G single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001155964] Chr4:56502485 [GRCh38]
Chr4:57368651 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.574C>G (p.Leu192Val) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001155843] Chr4:56474355 [GRCh38]
Chr4:57340521 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*473G>A single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV001153351] Chr4:56502334 [GRCh38]
Chr4:57368500 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.109+125A>G single nucleotide variant not provided [RCV001549436] Chr4:56467869 [GRCh38]
Chr4:57334035 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1135A>G (p.Met379Val) single nucleotide variant SRP72-related condition [RCV003928863]|not provided [RCV001362268] Chr4:56486373 [GRCh38]
Chr4:57352539 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006947.4(SRP72):c.433G>A (p.Glu145Lys) single nucleotide variant not provided [RCV001373529] Chr4:56474132 [GRCh38]
Chr4:57340298 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.133G>T (p.Val45Leu) single nucleotide variant not provided [RCV001300985] Chr4:56469676 [GRCh38]
Chr4:57335842 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.23G>C (p.Gly8Ala) single nucleotide variant not provided [RCV001319697] Chr4:56467658 [GRCh38]
Chr4:57333824 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.626C>T (p.Ser209Leu) single nucleotide variant not provided [RCV001296314] Chr4:56476686 [GRCh38]
Chr4:57342852 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1838+19A>G single nucleotide variant not provided [RCV001513517] Chr4:56500714 [GRCh38]
Chr4:57366880 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.768-20C>T single nucleotide variant not provided [RCV001519116] Chr4:56478572 [GRCh38]
Chr4:57344738 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.1160-213A>G single nucleotide variant not provided [RCV001538852] Chr4:56487736 [GRCh38]
Chr4:57353902 [GRCh37]
Chr4:4q12		 benign
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 copy number loss Piebaldism [RCV001420508] Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1		 pathogenic
NM_006947.4(SRP72):c.267C>T (p.Tyr89=) single nucleotide variant not provided [RCV001406202] Chr4:56471756 [GRCh38]
Chr4:57337922 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1321-266del deletion not provided [RCV001541158] Chr4:56490067 [GRCh38]
Chr4:57356233 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.958-16del deletion not provided [RCV001519450] Chr4:56484716 [GRCh38]
Chr4:57350882 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1225-292T>C single nucleotide variant not provided [RCV001716749] Chr4:56489096 [GRCh38]
Chr4:57355262 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.643-224T>A single nucleotide variant not provided [RCV001654262] Chr4:56478155 [GRCh38]
Chr4:57344321 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.643-7del deletion not provided [RCV001478046] Chr4:56478372 [GRCh38]
Chr4:57344538 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1503-15C>A single nucleotide variant not provided [RCV001460741] Chr4:56491416 [GRCh38]
Chr4:57357582 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1503-292T>C single nucleotide variant not provided [RCV001587785] Chr4:56491139 [GRCh38]
Chr4:57357305 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1321-102C>G single nucleotide variant not provided [RCV001617056] Chr4:56490231 [GRCh38]
Chr4:57356397 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1388A>C (p.Lys463Thr) single nucleotide variant not provided [RCV001769365] Chr4:56490400 [GRCh38]
Chr4:57356566 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1484A>G (p.Asp495Gly) single nucleotide variant Inborn genetic diseases [RCV002544306]|not provided [RCV001787014] Chr4:56490627 [GRCh38]
Chr4:57356793 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.22G>C (p.Gly8Arg) single nucleotide variant not provided [RCV001771445] Chr4:56467657 [GRCh38]
Chr4:57333823 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1061A>T (p.His354Leu) single nucleotide variant not provided [RCV001799846] Chr4:56484839 [GRCh38]
Chr4:57351005 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1253A>G (p.His418Arg) single nucleotide variant not provided [RCV001772971] Chr4:56489416 [GRCh38]
Chr4:57355582 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1838T>C (p.Leu613Pro) single nucleotide variant not provided [RCV001769275] Chr4:56500695 [GRCh38]
Chr4:57366861 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.289G>A (p.Ala97Thr) single nucleotide variant not provided [RCV001771161] Chr4:56471778 [GRCh38]
Chr4:57337944 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1160-15_1160-12del deletion not provided [RCV001771329] Chr4:56487931..56487934 [GRCh38]
Chr4:57354097..57354100 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1938C>T (p.His646=) single nucleotide variant not specified [RCV001817168] Chr4:56501783 [GRCh38]
Chr4:57367949 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.622C>T (p.Arg208Cys) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV002506848]|Inborn genetic diseases [RCV002542522]|not provided [RCV001885320]|not specified [RCV001817297] Chr4:56476682 [GRCh38]
Chr4:57342848 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1503-6T>C single nucleotide variant not specified [RCV001819536] Chr4:56491425 [GRCh38]
Chr4:57357591 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1502+9T>C single nucleotide variant not specified [RCV001820414] Chr4:56490654 [GRCh38]
Chr4:57356820 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.610+11T>C single nucleotide variant not provided [RCV002542625]|not specified [RCV001820456] Chr4:56474402 [GRCh38]
Chr4:57340568 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006947.4(SRP72):c.1005C>T (p.Pro335=) single nucleotide variant SRP72-related condition [RCV003976224]|not provided [RCV002074335]|not specified [RCV001820458] Chr4:56484783 [GRCh38]
Chr4:57350949 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1294G>A (p.Ala432Thr) single nucleotide variant SRP72-related condition [RCV003913408]|not provided [RCV002542626]|not specified [RCV001820459] Chr4:56489457 [GRCh38]
Chr4:57355623 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006947.4(SRP72):c.499-7_499-6del deletion not specified [RCV001820477] Chr4:56474273..56474274 [GRCh38]
Chr4:57340439..57340440 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.21G>A (p.Gly7=) single nucleotide variant not provided [RCV002074338]|not specified [RCV001820502] Chr4:56467656 [GRCh38]
Chr4:57333822 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.249A>G (p.Glu83=) single nucleotide variant not specified [RCV001820571] Chr4:56471738 [GRCh38]
Chr4:57337904 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.969C>T (p.Cys323=) single nucleotide variant not specified [RCV001822336] Chr4:56484747 [GRCh38]
Chr4:57350913 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.410G>A (p.Arg137Gln) single nucleotide variant not provided [RCV003698876]|not specified [RCV001822570] Chr4:56474109 [GRCh38]
Chr4:57340275 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1384C>T (p.Arg462Trp) single nucleotide variant not provided [RCV001869769]|not specified [RCV001822689] Chr4:56490396 [GRCh38]
Chr4:57356562 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.42G>C (p.Leu14=) single nucleotide variant not specified [RCV001819278] Chr4:56467677 [GRCh38]
Chr4:57333843 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.643-5C>T single nucleotide variant not specified [RCV001819517] Chr4:56478374 [GRCh38]
Chr4:57344540 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.494T>C (p.Val165Ala) single nucleotide variant Inborn genetic diseases [RCV002542595]|not provided [RCV001869710]|not specified [RCV001820233] Chr4:56474193 [GRCh38]
Chr4:57340359 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.942T>A (p.Ala314=) single nucleotide variant not provided [RCV002074329]|not specified [RCV001820347] Chr4:56483255 [GRCh38]
Chr4:57349421 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1119T>A (p.Ala373=) single nucleotide variant not specified [RCV001820509] Chr4:56486357 [GRCh38]
Chr4:57352523 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.21G>C (p.Gly7=) single nucleotide variant not provided [RCV002074254]|not specified [RCV001822196] Chr4:56467656 [GRCh38]
Chr4:57333822 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.527A>G (p.His176Arg) single nucleotide variant not provided [RCV001869653]|not specified [RCV001822197] Chr4:56474308 [GRCh38]
Chr4:57340474 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.722G>A (p.Arg241Gln) single nucleotide variant not provided [RCV001869759]|not specified [RCV001822523] Chr4:56478458 [GRCh38]
Chr4:57344624 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1321-4_1321-3del deletion not provided [RCV002074360]|not specified [RCV001822567] Chr4:56490328..56490329 [GRCh38]
Chr4:57356494..57356495 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006947.4(SRP72):c.325_328del (p.Asp109fs) microsatellite not provided [RCV002024982] Chr4:56471808..56471811 [GRCh38]
Chr4:57337974..57337977 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1128G>C (p.Lys376Asn) single nucleotide variant not provided [RCV002025593] Chr4:56486366 [GRCh38]
Chr4:57352532 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.511C>T (p.Leu171Phe) single nucleotide variant not provided [RCV001971441] Chr4:56474292 [GRCh38]
Chr4:57340458 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.149G>A (p.Cys50Tyr) single nucleotide variant SRP72-related condition [RCV003401998]|not provided [RCV002007864] Chr4:56469692 [GRCh38]
Chr4:57335858 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1042C>T (p.Leu348Phe) single nucleotide variant not provided [RCV002025483] Chr4:56484820 [GRCh38]
Chr4:57350986 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1331C>T (p.Pro444Leu) single nucleotide variant not provided [RCV001988551] Chr4:56490343 [GRCh38]
Chr4:57356509 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.971G>A (p.Arg324His) single nucleotide variant not provided [RCV001872707] Chr4:56484749 [GRCh38]
Chr4:57350915 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1372C>T (p.Leu458Phe) single nucleotide variant not provided [RCV001914828] Chr4:56490384 [GRCh38]
Chr4:57356550 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1742G>A (p.Arg581Gln) single nucleotide variant not provided [RCV002022784] Chr4:56500599 [GRCh38]
Chr4:57366765 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1588A>G (p.Ile530Val) single nucleotide variant not provided [RCV002002754] Chr4:56491516 [GRCh38]
Chr4:57357682 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1006G>A (p.Glu336Lys) single nucleotide variant not provided [RCV002020470] Chr4:56484784 [GRCh38]
Chr4:57350950 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1387AAG[1] (p.Lys464del) microsatellite not provided [RCV002020618] Chr4:56490398..56490400 [GRCh38]
Chr4:57356564..57356566 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
NM_006947.4(SRP72):c.598C>T (p.Gln200Ter) single nucleotide variant not provided [RCV001893484] Chr4:56474379 [GRCh38]
Chr4:57340545 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1 copy number loss not provided [RCV001829079] Chr4:52685685..58104722 [GRCh37]
Chr4:4q11-12		 pathogenic
NM_006947.4(SRP72):c.916A>G (p.Ile306Val) single nucleotide variant not provided [RCV002004124] Chr4:56483229 [GRCh38]
Chr4:57349395 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.151A>G (p.Lys51Glu) single nucleotide variant not provided [RCV001966638] Chr4:56469694 [GRCh38]
Chr4:57335860 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1536G>C (p.Met512Ile) single nucleotide variant not provided [RCV001912171] Chr4:56491464 [GRCh38]
Chr4:57357630 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1319A>G (p.Gln440Arg) single nucleotide variant not provided [RCV002052323] Chr4:56489482 [GRCh38]
Chr4:57355648 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.623G>A (p.Arg208His) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV002492057]|Inborn genetic diseases [RCV002563426]|not provided [RCV001987461] Chr4:56476683 [GRCh38]
Chr4:57342849 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1691A>C (p.Lys564Thr) single nucleotide variant not provided [RCV002005041] Chr4:56500548 [GRCh38]
Chr4:57366714 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1428A>G (p.Gln476=) single nucleotide variant SRP72-related condition [RCV003911062]|not provided [RCV001894568] Chr4:56490571 [GRCh38]
Chr4:57356737 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006947.4(SRP72):c.1477C>A (p.Leu493Ile) single nucleotide variant not provided [RCV001962409]|not specified [RCV003235629] Chr4:56490620 [GRCh38]
Chr4:57356786 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55124936)_(57798318_?)dup duplication TMEM165-congenital disorder of glycosylation [RCV003120758]|not provided [RCV001944395] Chr4:55124936..57798318 [GRCh37]
Chr4:4q12		 uncertain significance|no classifications from unflagged records
NM_006947.4(SRP72):c.696G>A (p.Met232Ile) single nucleotide variant not provided [RCV001877867] Chr4:56478432 [GRCh38]
Chr4:57344598 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1328C>T (p.Ser443Phe) single nucleotide variant not provided [RCV001961935] Chr4:56490340 [GRCh38]
Chr4:57356506 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.35C>T (p.Pro12Leu) single nucleotide variant not provided [RCV001887856] Chr4:56467670 [GRCh38]
Chr4:57333836 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.31G>A (p.Val11Ile) single nucleotide variant not provided [RCV001963496] Chr4:56467666 [GRCh38]
Chr4:57333832 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.422A>C (p.Asp141Ala) single nucleotide variant not provided [RCV001962009] Chr4:56474121 [GRCh38]
Chr4:57340287 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.104A>G (p.Asn35Ser) single nucleotide variant not provided [RCV002010199] Chr4:56467739 [GRCh38]
Chr4:57333905 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1679-9G>A single nucleotide variant SRP72-related condition [RCV003893022]|not provided [RCV001951762] Chr4:56500527 [GRCh38]
Chr4:57366693 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.231T>C (p.Asn77=) single nucleotide variant not provided [RCV001897059] Chr4:56471720 [GRCh38]
Chr4:57337886 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.550T>A (p.Cys184Ser) single nucleotide variant not provided [RCV002012295] Chr4:56474331 [GRCh38]
Chr4:57340497 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.533T>C (p.Leu178Pro) single nucleotide variant Inborn genetic diseases [RCV002608060]|not provided [RCV001989072] Chr4:56474314 [GRCh38]
Chr4:57340480 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.985A>G (p.Ser329Gly) single nucleotide variant not provided [RCV002034208] Chr4:56484763 [GRCh38]
Chr4:57350929 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.451C>T (p.Leu151Phe) single nucleotide variant not provided [RCV002010422] Chr4:56474150 [GRCh38]
Chr4:57340316 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.803A>G (p.Asn268Ser) single nucleotide variant not provided [RCV001899336] Chr4:56478627 [GRCh38]
Chr4:57344793 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.106A>T (p.Lys36Ter) single nucleotide variant not provided [RCV002019491] Chr4:56467741 [GRCh38]
Chr4:57333907 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.941C>T (p.Ala314Val) single nucleotide variant not provided [RCV001907054] Chr4:56483254 [GRCh38]
Chr4:57349420 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.250A>G (p.Lys84Glu) single nucleotide variant not provided [RCV001875120] Chr4:56471739 [GRCh38]
Chr4:57337905 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1592G>A (p.Arg531Gln) single nucleotide variant not provided [RCV002030111] Chr4:56491520 [GRCh38]
Chr4:57357686 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.182T>G (p.Phe61Cys) single nucleotide variant not provided [RCV001936562] Chr4:56469725 [GRCh38]
Chr4:57335891 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1205T>C (p.Leu402Ser) single nucleotide variant not provided [RCV002027829] Chr4:56487994 [GRCh38]
Chr4:57354160 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.121A>C (p.Asn41His) single nucleotide variant not provided [RCV001930790] Chr4:56469664 [GRCh38]
Chr4:57335830 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.970C>T (p.Arg324Cys) single nucleotide variant not provided [RCV002019597] Chr4:56484748 [GRCh38]
Chr4:57350914 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.930A>C (p.Lys310Asn) single nucleotide variant not provided [RCV001999011] Chr4:56483243 [GRCh38]
Chr4:57349409 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1321C>T (p.Pro441Ser) single nucleotide variant not provided [RCV001925277] Chr4:56490333 [GRCh38]
Chr4:57356499 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1460T>C (p.Leu487Pro) single nucleotide variant not provided [RCV001878242] Chr4:56490603 [GRCh38]
Chr4:57356769 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1744G>A (p.Glu582Lys) single nucleotide variant Inborn genetic diseases [RCV003303640]|not provided [RCV002014417] Chr4:56500601 [GRCh38]
Chr4:57366767 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.498+6T>C single nucleotide variant not provided [RCV001921655] Chr4:56474203 [GRCh38]
Chr4:57340369 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.611-7C>T single nucleotide variant not provided [RCV002091952] Chr4:56476664 [GRCh38]
Chr4:57342830 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.24G>A (p.Gly8=) single nucleotide variant not provided [RCV002105056] Chr4:56467659 [GRCh38]
Chr4:57333825 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.909A>G (p.Leu303=) single nucleotide variant not provided [RCV002205456] Chr4:56483222 [GRCh38]
Chr4:57349388 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.498+8T>C single nucleotide variant SRP72-related condition [RCV003978864]|not provided [RCV002146686] Chr4:56474205 [GRCh38]
Chr4:57340371 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1857G>A (p.Val619=) single nucleotide variant not provided [RCV002192059] Chr4:56501702 [GRCh38]
Chr4:57367868 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.498+9C>A single nucleotide variant not provided [RCV002125986] Chr4:56474206 [GRCh38]
Chr4:57340372 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.30A>T (p.Ser10=) single nucleotide variant not provided [RCV002189288] Chr4:56467665 [GRCh38]
Chr4:57333831 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1695T>C (p.Asn565=) single nucleotide variant not provided [RCV002209053] Chr4:56500552 [GRCh38]
Chr4:57366718 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.231-11dup duplication not provided [RCV002125021] Chr4:56471700..56471701 [GRCh38]
Chr4:57337866..57337867 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1830A>G (p.Ser610=) single nucleotide variant not provided [RCV002127684] Chr4:56500687 [GRCh38]
Chr4:57366853 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.927C>T (p.Asn309=) single nucleotide variant not provided [RCV002208004] Chr4:56483240 [GRCh38]
Chr4:57349406 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.109+19A>G single nucleotide variant not provided [RCV002209427] Chr4:56467763 [GRCh38]
Chr4:57333929 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.610+18C>T single nucleotide variant not provided [RCV002125106] Chr4:56474409 [GRCh38]
Chr4:57340575 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.768-16T>C single nucleotide variant not provided [RCV002206790] Chr4:56478576 [GRCh38]
Chr4:57344742 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.642+11C>T single nucleotide variant not provided [RCV002209919] Chr4:56476713 [GRCh38]
Chr4:57342879 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.114A>G (p.Leu38=) single nucleotide variant not provided [RCV002133805] Chr4:56469657 [GRCh38]
Chr4:57335823 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.51A>G (p.Glu17=) single nucleotide variant not provided [RCV002152185] Chr4:56467686 [GRCh38]
Chr4:57333852 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1225-9G>T single nucleotide variant not provided [RCV002116408] Chr4:56489379 [GRCh38]
Chr4:57355545 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.30A>G (p.Ser10=) single nucleotide variant not provided [RCV002117036] Chr4:56467665 [GRCh38]
Chr4:57333831 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.826-14C>G single nucleotide variant not provided [RCV002072603] Chr4:56483125 [GRCh38]
Chr4:57349291 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.258T>C (p.Tyr86=) single nucleotide variant not provided [RCV002168975] Chr4:56471747 [GRCh38]
Chr4:57337913 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.492G>A (p.Val164=) single nucleotide variant not provided [RCV002213029] Chr4:56474191 [GRCh38]
Chr4:57340357 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1839-10A>T single nucleotide variant not provided [RCV002208019] Chr4:56501674 [GRCh38]
Chr4:57367840 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.498+11T>C single nucleotide variant not provided [RCV002209918] Chr4:56474208 [GRCh38]
Chr4:57340374 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.873G>A (p.Ala291=) single nucleotide variant SRP72-related condition [RCV003970990]|not provided [RCV002079211] Chr4:56483186 [GRCh38]
Chr4:57349352 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.355-6A>G single nucleotide variant not provided [RCV002215076] Chr4:56474048 [GRCh38]
Chr4:57340214 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.435G>A (p.Glu145=) single nucleotide variant not provided [RCV002193178] Chr4:56474134 [GRCh38]
Chr4:57340300 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.231-19T>A single nucleotide variant not provided [RCV002145514] Chr4:56471701 [GRCh38]
Chr4:57337867 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.804T>C (p.Asn268=) single nucleotide variant not provided [RCV002170301] Chr4:56478628 [GRCh38]
Chr4:57344794 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.499-17A>G single nucleotide variant not provided [RCV002151714] Chr4:56474263 [GRCh38]
Chr4:57340429 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1678+19C>T single nucleotide variant not provided [RCV002173299] Chr4:56495413 [GRCh38]
Chr4:57361579 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.300A>C (p.Thr100=) single nucleotide variant not provided [RCV002167566] Chr4:56471789 [GRCh38]
Chr4:57337955 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.40C>T (p.Leu14=) single nucleotide variant not provided [RCV002114649] Chr4:56467675 [GRCh38]
Chr4:57333841 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity
NM_006947.4(SRP72):c.1521A>G (p.Pro507=) single nucleotide variant SRP72-related condition [RCV003978794]|not provided [RCV002094396] Chr4:56491449 [GRCh38]
Chr4:57357615 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.826-20G>A single nucleotide variant not provided [RCV002171069] Chr4:56483119 [GRCh38]
Chr4:57349285 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1640+7T>G single nucleotide variant not provided [RCV002077479] Chr4:56491575 [GRCh38]
Chr4:57357741 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1224+16T>C single nucleotide variant not provided [RCV002220815] Chr4:56488029 [GRCh38]
Chr4:57354195 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.261C>T (p.Cys87=) single nucleotide variant not provided [RCV002119690] Chr4:56471750 [GRCh38]
Chr4:57337916 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1439A>T (p.Asp480Val) single nucleotide variant not provided [RCV002202545] Chr4:56490582 [GRCh38]
Chr4:57356748 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.165T>C (p.Leu55=) single nucleotide variant not provided [RCV002123148] Chr4:56469708 [GRCh38]
Chr4:57335874 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1556A>T (p.Glu519Val) single nucleotide variant Inborn genetic diseases [RCV003161528]|not provided [RCV002159891] Chr4:56491484 [GRCh38]
Chr4:57357650 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006947.4(SRP72):c.499-15T>C single nucleotide variant not provided [RCV002144503] Chr4:56474265 [GRCh38]
Chr4:57340431 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1263T>C (p.Asp421=) single nucleotide variant not provided [RCV002143091] Chr4:56489426 [GRCh38]
Chr4:57355592 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1224+18C>T single nucleotide variant not provided [RCV002183237] Chr4:56488031 [GRCh38]
Chr4:57354197 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1678+16del deletion not provided [RCV002118259] Chr4:56495405 [GRCh38]
Chr4:57361571 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.741A>G (p.Gln247=) single nucleotide variant not provided [RCV002202372] Chr4:56478477 [GRCh38]
Chr4:57344643 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1617A>T (p.Gly539=) single nucleotide variant not provided [RCV002117810] Chr4:56491545 [GRCh38]
Chr4:57357711 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1424+14C>T single nucleotide variant not provided [RCV002135915] Chr4:56490450 [GRCh38]
Chr4:57356616 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1689T>C (p.Pro563=) single nucleotide variant not provided [RCV002176529] Chr4:56500546 [GRCh38]
Chr4:57366712 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1502+20del deletion not provided [RCV002176204] Chr4:56490664 [GRCh38]
Chr4:57356830 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1678+11A>T single nucleotide variant not provided [RCV002178285] Chr4:56495405 [GRCh38]
Chr4:57361571 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1679-10C>T single nucleotide variant not provided [RCV002154869] Chr4:56500526 [GRCh38]
Chr4:57366692 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1641-19T>C single nucleotide variant not provided [RCV002184128] Chr4:56495338 [GRCh38]
Chr4:57361504 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1524G>A (p.Ser508=) single nucleotide variant not provided [RCV002158602] Chr4:56491452 [GRCh38]
Chr4:57357618 [GRCh37]
Chr4:4q12		 likely benign
NC_000004.11:g.(?_55124936)_(57368027_?)del deletion TMEM165-congenital disorder of glycosylation [RCV003119917]|not provided [RCV003119918] Chr4:55124936..57368027 [GRCh37]
Chr4:4q12		 pathogenic|uncertain significance|no classifications from unflagged records
NM_006947.4(SRP72):c.230+128dup duplication not provided [RCV002244372] Chr4:56469895..56469896 [GRCh38]
Chr4:57336061..57336062 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1089A>G (p.Glu363=) single nucleotide variant not provided [RCV003230162] Chr4:56486327 [GRCh38]
Chr4:57352493 [GRCh37]
Chr4:4q12		 conflicting interpretations of pathogenicity|uncertain significance
NM_006947.4(SRP72):c.409C>T (p.Arg137Ter) single nucleotide variant not provided [RCV003156706] Chr4:56474108 [GRCh38]
Chr4:57340274 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1452G>A (p.Leu484=) single nucleotide variant SRP72-related condition [RCV003410284]|not provided [RCV003149444] Chr4:56490595 [GRCh38]
Chr4:57356761 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3 copy number gain not provided [RCV002473779] Chr4:52685980..59272025 [GRCh37]
Chr4:4q11-12		 uncertain significance
NM_006947.4(SRP72):c.-10C>T single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV002466798]|SRP72-related condition [RCV003973410] Chr4:56467626 [GRCh38]
Chr4:57333792 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006947.4(SRP72):c.1921A>G (p.Ile641Val) single nucleotide variant not provided [RCV002469920] Chr4:56501766 [GRCh38]
Chr4:57367932 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1330_1332del (p.Pro444del) deletion not provided [RCV002467304] Chr4:56490340..56490342 [GRCh38]
Chr4:57356506..57356508 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1567A>C (p.Asn523His) single nucleotide variant not provided [RCV002303939] Chr4:56491495 [GRCh38]
Chr4:57357661 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1481T>A (p.Val494Glu) single nucleotide variant not provided [RCV002304343] Chr4:56490624 [GRCh38]
Chr4:57356790 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.509G>A (p.Gly170Asp) single nucleotide variant not provided [RCV002300980] Chr4:56474290 [GRCh38]
Chr4:57340456 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.25dup (p.Val9fs) duplication SRP72-related condition [RCV003408227]|not provided [RCV002306296] Chr4:56467653..56467654 [GRCh38]
Chr4:57333819..57333820 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.352G>A (p.Val118Met) single nucleotide variant not provided [RCV002298134] Chr4:56471841 [GRCh38]
Chr4:57338007 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.340C>T (p.Leu114Phe) single nucleotide variant not provided [RCV002296404] Chr4:56471829 [GRCh38]
Chr4:57337995 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1502C>A (p.Ala501Asp) single nucleotide variant not provided [RCV002302257] Chr4:56490645 [GRCh38]
Chr4:57356811 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.705T>G (p.Ile235Met) single nucleotide variant not provided [RCV002296717] Chr4:56478441 [GRCh38]
Chr4:57344607 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1683A>G (p.Lys561=) single nucleotide variant not provided [RCV002726856] Chr4:56500540 [GRCh38]
Chr4:57366706 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1595A>G (p.Lys532Arg) single nucleotide variant not provided [RCV002838989] Chr4:56491523 [GRCh38]
Chr4:57357689 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1819G>A (p.Ala607Thr) single nucleotide variant not provided [RCV002686292] Chr4:56500676 [GRCh38]
Chr4:57366842 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1506_1510delinsACT (p.Ser503fs) indel not provided [RCV002617233] Chr4:56491434..56491438 [GRCh38]
Chr4:57357600..57357604 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.816C>T (p.Thr272=) single nucleotide variant not provided [RCV002815948] Chr4:56478640 [GRCh38]
Chr4:57344806 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.767+9T>C single nucleotide variant not provided [RCV002862094] Chr4:56478512 [GRCh38]
Chr4:57344678 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1345T>C (p.Leu449=) single nucleotide variant not provided [RCV002947490] Chr4:56490357 [GRCh38]
Chr4:57356523 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.498+10C>G single nucleotide variant not provided [RCV002636138] Chr4:56474207 [GRCh38]
Chr4:57340373 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.37G>A (p.Ala13Thr) single nucleotide variant not provided [RCV002508643] Chr4:56467672 [GRCh38]
Chr4:57333838 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.110-2A>G single nucleotide variant not provided [RCV002681479] Chr4:56469651 [GRCh38]
Chr4:57335817 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.362G>A (p.Arg121His) single nucleotide variant not provided [RCV002616580] Chr4:56474061 [GRCh38]
Chr4:57340227 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1458G>A (p.Gln486=) single nucleotide variant not provided [RCV002972278] Chr4:56490601 [GRCh38]
Chr4:57356767 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.899A>G (p.Lys300Arg) single nucleotide variant not provided [RCV003033815] Chr4:56483212 [GRCh38]
Chr4:57349378 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1196T>C (p.Ile399Thr) single nucleotide variant not provided [RCV002755298] Chr4:56487985 [GRCh38]
Chr4:57354151 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.231-11del deletion not provided [RCV002685610] Chr4:56471701 [GRCh38]
Chr4:57337867 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1480G>A (p.Val494Ile) single nucleotide variant not provided [RCV002775367] Chr4:56490623 [GRCh38]
Chr4:57356789 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.768-14C>A single nucleotide variant not provided [RCV002618284] Chr4:56478578 [GRCh38]
Chr4:57344744 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.20G>T (p.Gly7Val) single nucleotide variant SRP72-related condition [RCV003418671]|not provided [RCV002970967] Chr4:56467655 [GRCh38]
Chr4:57333821 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.675G>A (p.Leu225=) single nucleotide variant not provided [RCV002862220] Chr4:56478411 [GRCh38]
Chr4:57344577 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1341G>A (p.Leu447=) single nucleotide variant not specified [RCV003151664] Chr4:56490353 [GRCh38]
Chr4:57356519 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.361C>T (p.Arg121Cys) single nucleotide variant Inborn genetic diseases [RCV002888604] Chr4:56474060 [GRCh38]
Chr4:57340226 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1233dup (p.Leu412fs) duplication not provided [RCV003003210] Chr4:56489395..56489396 [GRCh38]
Chr4:57355561..57355562 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.976A>G (p.Ile326Val) single nucleotide variant not provided [RCV002590388] Chr4:56484754 [GRCh38]
Chr4:57350920 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.767+10del deletion not provided [RCV002619132] Chr4:56478512 [GRCh38]
Chr4:57344678 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.712C>T (p.Leu238Phe) single nucleotide variant Inborn genetic diseases [RCV002845773] Chr4:56478448 [GRCh38]
Chr4:57344614 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1839G>T (p.Leu613=) single nucleotide variant not provided [RCV003080359] Chr4:56501684 [GRCh38]
Chr4:57367850 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1449C>G (p.Thr483=) single nucleotide variant not provided [RCV002867671] Chr4:56490592 [GRCh38]
Chr4:57356758 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1679-14T>A single nucleotide variant not provided [RCV003054722] Chr4:56500522 [GRCh38]
Chr4:57366688 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1120G>A (p.Glu374Lys) single nucleotide variant not provided [RCV002510051] Chr4:56486358 [GRCh38]
Chr4:57352524 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.54G>A (p.Val18=) single nucleotide variant not provided [RCV002658782] Chr4:56467689 [GRCh38]
Chr4:57333855 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1854T>C (p.Thr618=) single nucleotide variant not provided [RCV002848314] Chr4:56501699 [GRCh38]
Chr4:57367865 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1225-14C>T single nucleotide variant not provided [RCV002847314] Chr4:56489374 [GRCh38]
Chr4:57355540 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1957C>T (p.Pro653Ser) single nucleotide variant not provided [RCV002999194] Chr4:56501802 [GRCh38]
Chr4:57367968 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1502+20T>G single nucleotide variant not provided [RCV002662674] Chr4:56490665 [GRCh38]
Chr4:57356831 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.554C>T (p.Ala185Val) single nucleotide variant not provided [RCV002659485] Chr4:56474335 [GRCh38]
Chr4:57340501 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1807C>T (p.Gln603Ter) single nucleotide variant not provided [RCV003022470] Chr4:56500664 [GRCh38]
Chr4:57366830 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.498+1G>A single nucleotide variant not provided [RCV002876292] Chr4:56474198 [GRCh38]
Chr4:57340364 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.563G>C (p.Gly188Ala) single nucleotide variant not provided [RCV002745366] Chr4:56474344 [GRCh38]
Chr4:57340510 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.861A>G (p.Lys287=) single nucleotide variant not provided [RCV002894174] Chr4:56483174 [GRCh38]
Chr4:57349340 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.745T>C (p.Tyr249His) single nucleotide variant not provided [RCV003043192] Chr4:56478481 [GRCh38]
Chr4:57344647 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1408C>T (p.Leu470=) single nucleotide variant not provided [RCV003005016] Chr4:56490420 [GRCh38]
Chr4:57356586 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity
NM_006947.4(SRP72):c.274A>G (p.Asn92Asp) single nucleotide variant not provided [RCV002667180] Chr4:56471763 [GRCh38]
Chr4:57337929 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1641-11dup duplication not provided [RCV002626514] Chr4:56495337..56495338 [GRCh38]
Chr4:57361503..57361504 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.178A>G (p.Ser60Gly) single nucleotide variant Inborn genetic diseases [RCV002594036]|not provided [RCV002613062] Chr4:56469721 [GRCh38]
Chr4:57335887 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1321-5T>C single nucleotide variant not provided [RCV002933380] Chr4:56490328 [GRCh38]
Chr4:57356494 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.418C>G (p.Gln140Glu) single nucleotide variant Inborn genetic diseases [RCV002763152] Chr4:56474117 [GRCh38]
Chr4:57340283 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.255A>G (p.Ala85=) single nucleotide variant SRP72-related condition [RCV003973553]|not provided [RCV002914645] Chr4:56471744 [GRCh38]
Chr4:57337910 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.825+20T>A single nucleotide variant not provided [RCV003022562] Chr4:56478669 [GRCh38]
Chr4:57344835 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1370A>G (p.Lys457Arg) single nucleotide variant not provided [RCV002982940] Chr4:56490382 [GRCh38]
Chr4:57356548 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1531A>G (p.Ser511Gly) single nucleotide variant not provided [RCV002851799] Chr4:56491459 [GRCh38]
Chr4:57357625 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.66C>T (p.Gly22=) single nucleotide variant not provided [RCV002574880] Chr4:56467701 [GRCh38]
Chr4:57333867 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1781A>G (p.Lys594Arg) single nucleotide variant not provided [RCV003056336] Chr4:56500638 [GRCh38]
Chr4:57366804 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.514dup (p.Gln172fs) duplication not provided [RCV002917585] Chr4:56474293..56474294 [GRCh38]
Chr4:57340459..57340460 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1682A>G (p.Lys561Arg) single nucleotide variant not provided [RCV003043056] Chr4:56500539 [GRCh38]
Chr4:57366705 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.995C>G (p.Ser332Cys) single nucleotide variant SRP72-related condition [RCV003410047]|not provided [RCV003056195] Chr4:56484773 [GRCh38]
Chr4:57350939 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.691C>T (p.Gln231Ter) single nucleotide variant not provided [RCV002890648] Chr4:56478427 [GRCh38]
Chr4:57344593 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1547_1549del (p.Val516del) deletion not provided [RCV003057584] Chr4:56491473..56491475 [GRCh38]
Chr4:57357639..57357641 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.549A>G (p.Ala183=) single nucleotide variant not provided [RCV003058968] Chr4:56474330 [GRCh38]
Chr4:57340496 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.642+10C>A single nucleotide variant not provided [RCV003085305] Chr4:56476712 [GRCh38]
Chr4:57342878 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.354+17A>G single nucleotide variant not provided [RCV002853451] Chr4:56471860 [GRCh38]
Chr4:57338026 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1394A>T (p.Glu465Val) single nucleotide variant not provided [RCV002643405] Chr4:56490406 [GRCh38]
Chr4:57356572 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1631A>T (p.Lys544Met) single nucleotide variant not provided [RCV002700674] Chr4:56491559 [GRCh38]
Chr4:57357725 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.498+16G>T single nucleotide variant not provided [RCV002573877] Chr4:56474213 [GRCh38]
Chr4:57340379 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.1553T>C (p.Val518Ala) single nucleotide variant Inborn genetic diseases [RCV002930773] Chr4:56491481 [GRCh38]
Chr4:57357647 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.846C>T (p.Ser282=) single nucleotide variant not provided [RCV003057289] Chr4:56483159 [GRCh38]
Chr4:57349325 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.58C>A (p.Arg20=) single nucleotide variant not provided [RCV002650019] Chr4:56467693 [GRCh38]
Chr4:57333859 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.693G>A (p.Gln231=) single nucleotide variant not provided [RCV003028915] Chr4:56478429 [GRCh38]
Chr4:57344595 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.958-10T>C single nucleotide variant not provided [RCV003063908] Chr4:56484726 [GRCh38]
Chr4:57350892 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.18C>T (p.Ser6=) single nucleotide variant not provided [RCV002646147] Chr4:56467653 [GRCh38]
Chr4:57333819 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1842T>C (p.Asp614=) single nucleotide variant not provided [RCV002631309] Chr4:56501687 [GRCh38]
Chr4:57367853 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.920A>C (p.Glu307Ala) single nucleotide variant not provided [RCV003047706] Chr4:56483233 [GRCh38]
Chr4:57349399 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.643-8T>C single nucleotide variant not provided [RCV002811272] Chr4:56478371 [GRCh38]
Chr4:57344537 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1048C>T (p.Arg350Cys) single nucleotide variant not provided [RCV002629381] Chr4:56484826 [GRCh38]
Chr4:57350992 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1088A>T (p.Glu363Val) single nucleotide variant not provided [RCV002577628] Chr4:56486326 [GRCh38]
Chr4:57352492 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.826-19A>T single nucleotide variant not provided [RCV003011600] Chr4:56483120 [GRCh38]
Chr4:57349286 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.109+2T>A single nucleotide variant not provided [RCV002988452] Chr4:56467746 [GRCh38]
Chr4:57333912 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.957+19T>A single nucleotide variant not provided [RCV002877210] Chr4:56483289 [GRCh38]
Chr4:57349455 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1291C>G (p.Gln431Glu) single nucleotide variant not provided [RCV003009034] Chr4:56489454 [GRCh38]
Chr4:57355620 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1049G>A (p.Arg350His) single nucleotide variant not provided [RCV002646791] Chr4:56484827 [GRCh38]
Chr4:57350993 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1558G>T (p.Ala520Ser) single nucleotide variant Inborn genetic diseases [RCV002878202] Chr4:56491486 [GRCh38]
Chr4:57357652 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.332T>C (p.Leu111Pro) single nucleotide variant not provided [RCV003009641] Chr4:56471821 [GRCh38]
Chr4:57337987 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1019C>T (p.Pro340Leu) single nucleotide variant not provided [RCV002670708] Chr4:56484797 [GRCh38]
Chr4:57350963 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1640+18A>G single nucleotide variant not provided [RCV002810485] Chr4:56491586 [GRCh38]
Chr4:57357752 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1587C>T (p.Tyr529=) single nucleotide variant not provided [RCV003009716] Chr4:56491515 [GRCh38]
Chr4:57357681 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.999A>G (p.Gln333=) single nucleotide variant not provided [RCV003086645] Chr4:56484777 [GRCh38]
Chr4:57350943 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.176del (p.Gly59fs) deletion not provided [RCV002577037] Chr4:56469718 [GRCh38]
Chr4:57335884 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.231-19T>C single nucleotide variant not provided [RCV002600515] Chr4:56471701 [GRCh38]
Chr4:57337867 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.17G>C (p.Ser6Thr) single nucleotide variant not provided [RCV002832837] Chr4:56467652 [GRCh38]
Chr4:57333818 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1769A>G (p.Lys590Arg) single nucleotide variant not provided [RCV002599710] Chr4:56500626 [GRCh38]
Chr4:57366792 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.25G>C (p.Val9Leu) single nucleotide variant not provided [RCV002938972] Chr4:56467660 [GRCh38]
Chr4:57333826 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.392T>C (p.Val131Ala) single nucleotide variant Inborn genetic diseases [RCV002748283]|not provided [RCV003574990] Chr4:56474091 [GRCh38]
Chr4:57340257 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.46A>C (p.Ser16Arg) single nucleotide variant not provided [RCV002962359] Chr4:56467681 [GRCh38]
Chr4:57333847 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1321-9A>G single nucleotide variant not provided [RCV003031094] Chr4:56490324 [GRCh38]
Chr4:57356490 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1928C>T (p.Pro643Leu) single nucleotide variant not provided [RCV002578584] Chr4:56501773 [GRCh38]
Chr4:57367939 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1846A>G (p.Ser616Gly) single nucleotide variant not provided [RCV003032051] Chr4:56501691 [GRCh38]
Chr4:57367857 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.767+1G>A single nucleotide variant not provided [RCV003149346] Chr4:56478504 [GRCh38]
Chr4:57344670 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1893T>C (p.Ala631=) single nucleotide variant not provided [RCV002604839] Chr4:56501738 [GRCh38]
Chr4:57367904 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.611-15A>G single nucleotide variant not provided [RCV002635877] Chr4:56476656 [GRCh38]
Chr4:57342822 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1534A>T (p.Met512Leu) single nucleotide variant Inborn genetic diseases [RCV002582487]|not provided [RCV002582486] Chr4:56491462 [GRCh38]
Chr4:57357628 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.314A>G (p.Asn105Ser) single nucleotide variant not provided [RCV002636033] Chr4:56471803 [GRCh38]
Chr4:57337969 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.19G>A (p.Gly7Arg) single nucleotide variant not provided [RCV002607040] Chr4:56467654 [GRCh38]
Chr4:57333820 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.797T>C (p.Ile266Thr) single nucleotide variant Inborn genetic diseases [RCV002652428]|not provided [RCV003698969] Chr4:56478621 [GRCh38]
Chr4:57344787 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1532G>A (p.Ser511Asn) single nucleotide variant not provided [RCV003050141] Chr4:56491460 [GRCh38]
Chr4:57357626 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.926A>C (p.Asn309Thr) single nucleotide variant not provided [RCV003050166] Chr4:56483239 [GRCh38]
Chr4:57349405 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1523C>T (p.Ser508Leu) single nucleotide variant not provided [RCV002613116] Chr4:56491451 [GRCh38]
Chr4:57357617 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1933A>C (p.Arg645=) single nucleotide variant not provided [RCV002585806] Chr4:56501778 [GRCh38]
Chr4:57367944 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.642+12A>G single nucleotide variant not provided [RCV002586165] Chr4:56476714 [GRCh38]
Chr4:57342880 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.992A>G (p.Gln331Arg) single nucleotide variant not provided [RCV003227345] Chr4:56484770 [GRCh38]
Chr4:57350936 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.718G>T (p.Gly240Cys) single nucleotide variant Inborn genetic diseases [RCV003201373] Chr4:56478454 [GRCh38]
Chr4:57344620 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.24_25delinsT (p.Val9fs) indel not provided [RCV003228511] Chr4:56467659..56467660 [GRCh38]
Chr4:57333825..57333826 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.869A>G (p.Asn290Ser) single nucleotide variant not provided [RCV003319672] Chr4:56483182 [GRCh38]
Chr4:57349348 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.986G>A (p.Ser329Asn) single nucleotide variant not provided [RCV003318777] Chr4:56484764 [GRCh38]
Chr4:57350930 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1717G>C (p.Asp573His) single nucleotide variant not provided [RCV003327902] Chr4:56500574 [GRCh38]
Chr4:57366740 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1297A>G (p.Ile433Val) single nucleotide variant not provided [RCV003329577] Chr4:56489460 [GRCh38]
Chr4:57355626 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.206A>G (p.Asn69Ser) single nucleotide variant not provided [RCV003325702] Chr4:56469749 [GRCh38]
Chr4:57335915 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1900G>C (p.Val634Leu) single nucleotide variant Autosomal dominant aplasia and myelodysplasia [RCV003337780]|not provided [RCV003669390] Chr4:56501745 [GRCh38]
Chr4:57367911 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
NM_006947.4(SRP72):c.1091T>C (p.Phe364Ser) single nucleotide variant Inborn genetic diseases [RCV003381573] Chr4:56486329 [GRCh38]
Chr4:57352495 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.949A>G (p.Thr317Ala) single nucleotide variant not provided [RCV003332513] Chr4:56483262 [GRCh38]
Chr4:57349428 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.800C>T (p.Ala267Val) single nucleotide variant not provided [RCV003571632] Chr4:56478624 [GRCh38]
Chr4:57344790 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1471T>C (p.Tyr491His) single nucleotide variant not provided [RCV003872956] Chr4:56490614 [GRCh38]
Chr4:57356780 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1322C>T (p.Pro441Leu) single nucleotide variant not provided [RCV003686204] Chr4:56490334 [GRCh38]
Chr4:57356500 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1 copy number loss not provided [RCV003485416] Chr4:52685685..61903883 [GRCh37]
Chr4:4q11-13.1		 pathogenic
NC_000004.12:g.56491432_56491437del deletion not provided [RCV003872959] Chr4:56491429..56491434 [GRCh38]
Chr4:57357595..57357600 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.22G>A (p.Gly8Arg) single nucleotide variant not provided [RCV003439318] Chr4:56467657 [GRCh38]
Chr4:57333823 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1385G>A (p.Arg462Gln) single nucleotide variant SRP72-related condition [RCV003414208]|not provided [RCV003443213] Chr4:56490397 [GRCh38]
Chr4:57356563 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.569G>T (p.Gly190Val) single nucleotide variant not provided [RCV003442660] Chr4:56474350 [GRCh38]
Chr4:57340516 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.825+14del deletion not provided [RCV003880562] Chr4:56478663 [GRCh38]
Chr4:57344829 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.521G>A (p.Gly174Asp) single nucleotide variant SRP72-related condition [RCV003391671] Chr4:56474302 [GRCh38]
Chr4:57340468 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.85C>T (p.Arg29Cys) single nucleotide variant not provided [RCV003443769] Chr4:56467720 [GRCh38]
Chr4:57333886 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1245G>A (p.Met415Ile) single nucleotide variant SRP72-related condition [RCV003400399] Chr4:56489408 [GRCh38]
Chr4:57355574 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.646G>A (p.Gly216Arg) single nucleotide variant not provided [RCV003443866] Chr4:56478382 [GRCh38]
Chr4:57344548 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.190G>C (p.Ala64Pro) single nucleotide variant not provided [RCV003442538] Chr4:56469733 [GRCh38]
Chr4:57335899 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.122A>G (p.Asn41Ser) single nucleotide variant not provided [RCV003439319] Chr4:56469665 [GRCh38]
Chr4:57335831 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.*622_*639del deletion not provided [RCV003439320] Chr4:56502479..56502496 [GRCh38]
Chr4:57368645..57368662 [GRCh37]
Chr4:4q12		 benign
NM_006947.4(SRP72):c.921A>T (p.Glu307Asp) single nucleotide variant not provided [RCV003831579] Chr4:56483234 [GRCh38]
Chr4:57349400 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1366T>C (p.Phe456Leu) single nucleotide variant not provided [RCV003693637] Chr4:56490378 [GRCh38]
Chr4:57356544 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.385T>C (p.Leu129=) single nucleotide variant not provided [RCV003829937] Chr4:56474084 [GRCh38]
Chr4:57340250 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1679-16T>C single nucleotide variant not provided [RCV003695861] Chr4:56500520 [GRCh38]
Chr4:57366686 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1638A>G (p.Gln546=) single nucleotide variant not provided [RCV003715619] Chr4:56491566 [GRCh38]
Chr4:57357732 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1753T>C (p.Tyr585His) single nucleotide variant not provided [RCV003547004] Chr4:56500610 [GRCh38]
Chr4:57366776 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1156C>G (p.Gln386Glu) single nucleotide variant not provided [RCV003576718] Chr4:56486394 [GRCh38]
Chr4:57352560 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.676G>T (p.Ala226Ser) single nucleotide variant not provided [RCV003576647] Chr4:56478412 [GRCh38]
Chr4:57344578 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1091T>G (p.Phe364Cys) single nucleotide variant not provided [RCV003545076] Chr4:56486329 [GRCh38]
Chr4:57352495 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.774del (p.Asp259fs) deletion not provided [RCV003694565] Chr4:56478598 [GRCh38]
Chr4:57344764 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.354+6T>G single nucleotide variant not provided [RCV003691324] Chr4:56471849 [GRCh38]
Chr4:57338015 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1376A>T (p.Lys459Ile) single nucleotide variant not provided [RCV003547496] Chr4:56490388 [GRCh38]
Chr4:57356554 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.278G>A (p.Arg93Lys) single nucleotide variant not provided [RCV003739688] Chr4:56471767 [GRCh38]
Chr4:57337933 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.305A>C (p.Glu102Ala) single nucleotide variant not provided [RCV003695553] Chr4:56471794 [GRCh38]
Chr4:57337960 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.199G>A (p.Val67Ile) single nucleotide variant not provided [RCV003694848] Chr4:56469742 [GRCh38]
Chr4:57335908 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.230+17G>A single nucleotide variant not provided [RCV003830959] Chr4:56469790 [GRCh38]
Chr4:57335956 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1503-14C>A single nucleotide variant not provided [RCV003577727] Chr4:56491417 [GRCh38]
Chr4:57357583 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.41T>C (p.Leu14Pro) single nucleotide variant not provided [RCV003879626] Chr4:56467676 [GRCh38]
Chr4:57333842 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1838+14C>T single nucleotide variant not provided [RCV003578556] Chr4:56500709 [GRCh38]
Chr4:57366875 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.143T>G (p.Leu48Arg) single nucleotide variant not provided [RCV003545869] Chr4:56469686 [GRCh38]
Chr4:57335852 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1165A>G (p.Ile389Val) single nucleotide variant not provided [RCV003663268] Chr4:56487954 [GRCh38]
Chr4:57354120 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1858A>T (p.Ser620Cys) single nucleotide variant not provided [RCV003660309] Chr4:56501703 [GRCh38]
Chr4:57367869 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1514A>C (p.His505Pro) single nucleotide variant not provided [RCV003688411] Chr4:56491442 [GRCh38]
Chr4:57357608 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.974A>G (p.Lys325Arg) single nucleotide variant not provided [RCV003828070] Chr4:56484752 [GRCh38]
Chr4:57350918 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.355-7T>C single nucleotide variant not provided [RCV003574027] Chr4:56474047 [GRCh38]
Chr4:57340213 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1086+12dup duplication not provided [RCV003665210] Chr4:56484875..56484876 [GRCh38]
Chr4:57351041..57351042 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.617G>T (p.Cys206Phe) single nucleotide variant not provided [RCV003717935] Chr4:56476677 [GRCh38]
Chr4:57342843 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.231-19T>G single nucleotide variant not provided [RCV003811455] Chr4:56471701 [GRCh38]
Chr4:57337867 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.607G>A (p.Glu203Lys) single nucleotide variant not provided [RCV003852645] Chr4:56474388 [GRCh38]
Chr4:57340554 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1086+3A>G single nucleotide variant not provided [RCV003664610] Chr4:56484867 [GRCh38]
Chr4:57351033 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.397A>G (p.Arg133Gly) single nucleotide variant not provided [RCV003673224] Chr4:56474096 [GRCh38]
Chr4:57340262 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.943A>G (p.Met315Val) single nucleotide variant not provided [RCV003856618] Chr4:56483256 [GRCh38]
Chr4:57349422 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1006G>C (p.Glu336Gln) single nucleotide variant not provided [RCV003668235] Chr4:56484784 [GRCh38]
Chr4:57350950 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.33A>G (p.Val11=) single nucleotide variant SRP72-related condition [RCV003901235]|not provided [RCV003669762] Chr4:56467668 [GRCh38]
Chr4:57333834 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1679-3C>T single nucleotide variant not provided [RCV003667507] Chr4:56500533 [GRCh38]
Chr4:57366699 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.87C>T (p.Arg29=) single nucleotide variant not provided [RCV003852187] Chr4:56467722 [GRCh38]
Chr4:57333888 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1424+20G>A single nucleotide variant not provided [RCV003548851] Chr4:56490456 [GRCh38]
Chr4:57356622 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.405C>T (p.Leu135=) single nucleotide variant not provided [RCV003834857] Chr4:56474104 [GRCh38]
Chr4:57340270 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1159+6A>G single nucleotide variant SRP72-related condition [RCV003893419]|not provided [RCV003813791] Chr4:56486403 [GRCh38]
Chr4:57352569 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006947.4(SRP72):c.654G>A (p.Glu218=) single nucleotide variant not provided [RCV003700072] Chr4:56478390 [GRCh38]
Chr4:57344556 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1930C>T (p.Pro644Ser) single nucleotide variant not provided [RCV003701105] Chr4:56501775 [GRCh38]
Chr4:57367941 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.467C>G (p.Ala156Gly) single nucleotide variant not provided [RCV003671512] Chr4:56474166 [GRCh38]
Chr4:57340332 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.491del (p.Val164fs) deletion not provided [RCV003702450] Chr4:56474190 [GRCh38]
Chr4:57340356 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.33A>T (p.Val11=) single nucleotide variant not provided [RCV003668585] Chr4:56467668 [GRCh38]
Chr4:57333834 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1583C>G (p.Thr528Arg) single nucleotide variant not provided [RCV003702825] Chr4:56491511 [GRCh38]
Chr4:57357677 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1330C>T (p.Pro444Ser) single nucleotide variant not provided [RCV003817054] Chr4:56490342 [GRCh38]
Chr4:57356508 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.321G>A (p.Gln107=) single nucleotide variant not provided [RCV003835528] Chr4:56471810 [GRCh38]
Chr4:57337976 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1653GAAAAAGAA[1] (p.Lys557_Lys559del) microsatellite not provided [RCV003673972] Chr4:56495369..56495377 [GRCh38]
Chr4:57361535..57361543 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.621C>A (p.Arg207=) single nucleotide variant not provided [RCV003725502] Chr4:56476681 [GRCh38]
Chr4:57342847 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.25G>T (p.Val9Leu) single nucleotide variant not provided [RCV003839713] Chr4:56467660 [GRCh38]
Chr4:57333826 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.241dup (p.Ser81fs) duplication not provided [RCV003839948] Chr4:56471729..56471730 [GRCh38]
Chr4:57337895..57337896 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.303A>G (p.Ile101Met) single nucleotide variant not provided [RCV003561593] Chr4:56471792 [GRCh38]
Chr4:57337958 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.222G>A (p.Val74=) single nucleotide variant not provided [RCV003838323] Chr4:56469765 [GRCh38]
Chr4:57335931 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.24G>T (p.Gly8=) single nucleotide variant not provided [RCV003725113] Chr4:56467659 [GRCh38]
Chr4:57333825 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1739T>C (p.Met580Thr) single nucleotide variant not provided [RCV003838769] Chr4:56500596 [GRCh38]
Chr4:57366762 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1282G>T (p.Val428Phe) single nucleotide variant not provided [RCV003665006] Chr4:56489445 [GRCh38]
Chr4:57355611 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1307A>T (p.Tyr436Phe) single nucleotide variant not provided [RCV003718101] Chr4:56489470 [GRCh38]
Chr4:57355636 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.770C>G (p.Pro257Arg) single nucleotide variant not provided [RCV003711982] Chr4:56478594 [GRCh38]
Chr4:57344760 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1686G>C (p.Leu562Phe) single nucleotide variant not provided [RCV003707845] Chr4:56500543 [GRCh38]
Chr4:57366709 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.109+2T>G single nucleotide variant not provided [RCV003709135] Chr4:56467746 [GRCh38]
Chr4:57333912 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1225-2A>G single nucleotide variant not provided [RCV003679875] Chr4:56489386 [GRCh38]
Chr4:57355552 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.132C>T (p.Asp44=) single nucleotide variant not provided [RCV003555137] Chr4:56469675 [GRCh38]
Chr4:57335841 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.399A>G (p.Arg133=) single nucleotide variant not provided [RCV003857163] Chr4:56474098 [GRCh38]
Chr4:57340264 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.367G>T (p.Glu123Ter) single nucleotide variant not provided [RCV003843791] Chr4:56474066 [GRCh38]
Chr4:57340232 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.498+10C>A single nucleotide variant not provided [RCV003843865] Chr4:56474207 [GRCh38]
Chr4:57340373 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.484G>C (p.Glu162Gln) single nucleotide variant not provided [RCV003552109] Chr4:56474183 [GRCh38]
Chr4:57340349 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1870A>G (p.Thr624Ala) single nucleotide variant not provided [RCV003843782] Chr4:56501715 [GRCh38]
Chr4:57367881 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.881T>G (p.Val294Gly) single nucleotide variant not provided [RCV003550762] Chr4:56483194 [GRCh38]
Chr4:57349360 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.242C>T (p.Ser81Phe) single nucleotide variant not provided [RCV003568101] Chr4:56471731 [GRCh38]
Chr4:57337897 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.765A>G (p.Leu255=) single nucleotide variant not provided [RCV003705608] Chr4:56478501 [GRCh38]
Chr4:57344667 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.92T>C (p.Leu31Pro) single nucleotide variant not provided [RCV003677954] Chr4:56467727 [GRCh38]
Chr4:57333893 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.168C>A (p.Ile56=) single nucleotide variant not provided [RCV003564643] Chr4:56469711 [GRCh38]
Chr4:57335877 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1048C>G (p.Arg350Gly) single nucleotide variant not provided [RCV003709981] Chr4:56484826 [GRCh38]
Chr4:57350992 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.271del (p.Arg90_Leu91insTer) deletion not provided [RCV003708898] Chr4:56471760 [GRCh38]
Chr4:57337926 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1425-3T>C single nucleotide variant not provided [RCV003847415] Chr4:56490565 [GRCh38]
Chr4:57356731 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.499-3C>T single nucleotide variant not provided [RCV003707612] Chr4:56474277 [GRCh38]
Chr4:57340443 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.958-13G>A single nucleotide variant not provided [RCV003711911] Chr4:56484723 [GRCh38]
Chr4:57350889 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.539A>G (p.Tyr180Cys) single nucleotide variant not provided [RCV003735882] Chr4:56474320 [GRCh38]
Chr4:57340486 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1945C>T (p.Pro649Ser) single nucleotide variant not provided [RCV003704305] Chr4:56501790 [GRCh38]
Chr4:57367956 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.226G>A (p.Ala76Thr) single nucleotide variant not provided [RCV003685006] Chr4:56469769 [GRCh38]
Chr4:57335935 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1345T>G (p.Leu449Val) single nucleotide variant not provided [RCV003871765] Chr4:56490357 [GRCh38]
Chr4:57356523 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1424+14C>G single nucleotide variant not provided [RCV003868689] Chr4:56490450 [GRCh38]
Chr4:57356616 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1399A>G (p.Ile467Val) single nucleotide variant not provided [RCV003719812] Chr4:56490411 [GRCh38]
Chr4:57356577 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1882C>G (p.Pro628Ala) single nucleotide variant not provided [RCV003670569] Chr4:56501727 [GRCh38]
Chr4:57367893 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1159+17C>T single nucleotide variant not provided [RCV003721219] Chr4:56486414 [GRCh38]
Chr4:57352580 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1839-11G>C single nucleotide variant not provided [RCV003847297] Chr4:56501673 [GRCh38]
Chr4:57367839 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.110-19T>G single nucleotide variant not provided [RCV003706967] Chr4:56469634 [GRCh38]
Chr4:57335800 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1502+1G>A single nucleotide variant not provided [RCV003869062] Chr4:56490646 [GRCh38]
Chr4:57356812 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1159+20G>A single nucleotide variant not provided [RCV003860503] Chr4:56486417 [GRCh38]
Chr4:57352583 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.556C>G (p.Leu186Val) single nucleotide variant not provided [RCV003846175] Chr4:56474337 [GRCh38]
Chr4:57340503 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.288T>A (p.Asn96Lys) single nucleotide variant not provided [RCV003863456] Chr4:56471777 [GRCh38]
Chr4:57337943 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.108G>A (p.Lys36=) single nucleotide variant not provided [RCV003682576] Chr4:56467743 [GRCh38]
Chr4:57333909 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.354+12T>C single nucleotide variant not provided [RCV003718704] Chr4:56471855 [GRCh38]
Chr4:57338021 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1932_1933del (p.Arg645fs) deletion not provided [RCV003542172] Chr4:56501777..56501778 [GRCh38]
Chr4:57367943..57367944 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.978A>G (p.Ile326Met) single nucleotide variant not provided [RCV003841538] Chr4:56484756 [GRCh38]
Chr4:57350922 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1296T>C (p.Ala432=) single nucleotide variant not provided [RCV003866719] Chr4:56489459 [GRCh38]
Chr4:57355625 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1930C>G (p.Pro644Ala) single nucleotide variant not provided [RCV003675783] Chr4:56501775 [GRCh38]
Chr4:57367941 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1678+8A>G single nucleotide variant not provided [RCV003819445] Chr4:56495402 [GRCh38]
Chr4:57361568 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1210C>T (p.His404Tyr) single nucleotide variant not provided [RCV003562463] Chr4:56487999 [GRCh38]
Chr4:57354165 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.1924A>T (p.Ile642Leu) single nucleotide variant not provided [RCV003866255] Chr4:56501769 [GRCh38]
Chr4:57367935 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.355-13A>G single nucleotide variant not provided [RCV003708058] Chr4:56474041 [GRCh38]
Chr4:57340207 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.25G>A (p.Val9Met) single nucleotide variant SRP72-related condition [RCV003901294]|not provided [RCV003710825] Chr4:56467660 [GRCh38]
Chr4:57333826 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.944T>C (p.Met315Thr) single nucleotide variant not provided [RCV003705106] Chr4:56483257 [GRCh38]
Chr4:57349423 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.219A>G (p.Lys73=) single nucleotide variant not provided [RCV003706630] Chr4:56469762 [GRCh38]
Chr4:57335928 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1320+13del deletion not provided [RCV003707805] Chr4:56489496 [GRCh38]
Chr4:57355662 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1449C>T (p.Thr483=) single nucleotide variant not provided [RCV003727272] Chr4:56490592 [GRCh38]
Chr4:57356758 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.912A>G (p.Gln304=) single nucleotide variant SRP72-related condition [RCV003893459]|not provided [RCV003824340] Chr4:56483225 [GRCh38]
Chr4:57349391 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.231-9C>T single nucleotide variant not provided [RCV003676504] Chr4:56471711 [GRCh38]
Chr4:57337877 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.83C>A (p.Thr28Lys) single nucleotide variant not provided [RCV003550970] Chr4:56467718 [GRCh38]
Chr4:57333884 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.724A>G (p.Thr242Ala) single nucleotide variant not provided [RCV003866668] Chr4:56478460 [GRCh38]
Chr4:57344626 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.551G>C (p.Cys184Ser) single nucleotide variant not provided [RCV003677860] Chr4:56474332 [GRCh38]
Chr4:57340498 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.9C>T (p.Ser3=) single nucleotide variant SRP72-related condition [RCV003944648] Chr4:56467644 [GRCh38]
Chr4:57333810 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1272T>C (p.Ser424=) single nucleotide variant SRP72-related condition [RCV003952326] Chr4:56489435 [GRCh38]
Chr4:57355601 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1620T>C (p.Asp540=) single nucleotide variant SRP72-related condition [RCV003957008] Chr4:56491548 [GRCh38]
Chr4:57357714 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.610+9T>A single nucleotide variant SRP72-related condition [RCV003959443] Chr4:56474400 [GRCh38]
Chr4:57340566 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.1515C>T (p.His505=) single nucleotide variant SRP72-related condition [RCV003902109] Chr4:56491443 [GRCh38]
Chr4:57357609 [GRCh37]
Chr4:4q12		 likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_006947.4(SRP72):c.541A>G (p.Asn181Asp) single nucleotide variant SRP72-related condition [RCV003893722] Chr4:56474322 [GRCh38]
Chr4:57340488 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006947.4(SRP72):c.230+10T>G single nucleotide variant SRP72-related condition [RCV003897189] Chr4:56469783 [GRCh38]
Chr4:57335949 [GRCh37]
Chr4:4q12		 likely benign
NM_006947.4(SRP72):c.611-4G>A single nucleotide variant SRP72-related condition [RCV003899079] Chr4:56476667 [GRCh38]
Chr4:57342833 [GRCh37]
Chr4:4q12		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:688
Count of miRNA genes:399
Interacting mature miRNAs:428
Transcripts:ENST00000342756, ENST00000504757, ENST00000505314, ENST00000507126, ENST00000510663
Prediction methods: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.

Markers in Region
STS-W93645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,658,917 - 158,659,150UniSTSGRCh37
Build 366158,578,905 - 158,579,138RGDNCBI36
Celera6159,306,961 - 159,307,194RGD
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map4q11UniSTS
HuRef6156,130,291 - 156,130,524UniSTS
GeneMap99-GB4 RH Map6616.27UniSTS
NCBI RH Map61631.6UniSTS
SHGC-64104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37457,340,523 - 57,340,685UniSTSGRCh37
Build 36457,035,280 - 57,035,442RGDNCBI36
Celera454,846,897 - 54,847,059RGD
Cytogenetic Map4q11UniSTS
HuRef453,294,664 - 53,294,826UniSTS
RH10468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37457,369,604 - 57,369,705UniSTSGRCh37
GRCh371207,321,897 - 207,321,999UniSTSGRCh37
Build 361205,388,520 - 205,388,622RGDNCBI36
Celera454,876,018 - 54,876,119UniSTS
Celera1180,574,483 - 180,574,585RGD
Cytogenetic Map4q12UniSTS
Cytogenetic Map4q11UniSTS
HuRef453,323,700 - 53,323,801UniSTS
HuRef1178,018,552 - 178,018,654UniSTS
SHGC-133081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37457,340,523 - 57,340,713UniSTSGRCh37
Build 36457,035,280 - 57,035,470RGDNCBI36
Celera454,846,897 - 54,847,087RGD
Cytogenetic Map4q11UniSTS
HuRef453,294,664 - 53,294,854UniSTS
TNG Radiation Hybrid Map430773.0UniSTS
A009E15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37457,332,347 - 57,332,522UniSTSGRCh37
Build 36457,027,104 - 57,027,279RGDNCBI36
Celera454,838,721 - 54,838,896RGD
Cytogenetic Map4q11UniSTS
HuRef453,286,488 - 53,286,663UniSTS
GeneMap99-GB4 RH Map4332.73UniSTS
G19659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37457,369,604 - 57,369,705UniSTSGRCh37
GRCh371207,321,897 - 207,321,999UniSTSGRCh37
Build 361205,388,520 - 205,388,622RGDNCBI36
Celera454,876,018 - 54,876,119UniSTS
Celera1180,574,483 - 180,574,585RGD
Cytogenetic Map4q12UniSTS
Cytogenetic Map4q11UniSTS
HuRef453,323,700 - 53,323,801UniSTS
HuRef1178,018,552 - 178,018,654UniSTS
G32470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37457,332,347 - 57,332,522UniSTSGRCh37
Celera454,838,721 - 54,838,896UniSTS
Cytogenetic Map4q11UniSTS
HuRef453,286,488 - 53,286,663UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2434 2352 1654 560 1622 401 4324 1927 3220 393 1460 1611 175 1 1204 2756 6 2
Low 5 639 72 64 329 64 33 270 514 26 2 32
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001267722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_151856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC114766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF038851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF069765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF077019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM985263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM985419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN270014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB487204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000504757   ⟹   ENSP00000473576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,467,618 - 56,474,508 (+)Ensembl
RefSeq Acc Id: ENST00000505314   ⟹   ENSP00000425190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,467,736 - 56,489,401 (+)Ensembl
RefSeq Acc Id: ENST00000507126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,500,451 - 56,503,673 (+)Ensembl
RefSeq Acc Id: ENST00000510663   ⟹   ENSP00000424576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,467,617 - 56,502,415 (+)Ensembl
RefSeq Acc Id: ENST00000642900   ⟹   ENSP00000495128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,467,617 - 56,503,681 (+)Ensembl
RefSeq Acc Id: ENST00000646222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,495,271 - 56,501,828 (+)Ensembl
RefSeq Acc Id: ENST00000646537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,475,677 - 56,477,172 (+)Ensembl
RefSeq Acc Id: ENST00000646579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,486,228 - 56,491,683 (+)Ensembl
RefSeq Acc Id: ENST00000647432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,489,062 - 56,495,392 (+)Ensembl
RefSeq Acc Id: NM_001267722   ⟹   NP_001254651
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,467,617 - 56,503,681 (+)NCBI
GRCh37457,333,370 - 57,369,847 (+)NCBI
HuRef453,287,903 - 53,323,943 (+)NCBI
CHM1_1457,368,898 - 57,404,983 (+)NCBI
T2T-CHM13v2.0459,955,623 - 59,991,687 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006947   ⟹   NP_008878
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,467,617 - 56,503,681 (+)NCBI
GRCh37457,333,370 - 57,369,847 (+)NCBI
Build 36457,028,519 - 57,064,604 (+)NCBI Archive
HuRef453,287,903 - 53,323,943 (+)ENTREZGENE
CHM1_1457,368,898 - 57,404,983 (+)NCBI
T2T-CHM13v2.0459,955,623 - 59,991,687 (+)NCBI
Sequence:
RefSeq Acc Id: NR_151856
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,467,617 - 56,503,681 (+)NCBI
T2T-CHM13v2.0459,955,623 - 59,991,687 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024454192   ⟹   XP_024309960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,467,617 - 56,495,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054350750   ⟹   XP_054206725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0459,955,623 - 59,983,389 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_008878   ⟸   NM_006947
- Peptide Label: isoform 1
- UniProtKB: G5E9Z8 (UniProtKB/Swiss-Prot),   Q7Z3C0 (UniProtKB/Swiss-Prot),   O76094 (UniProtKB/Swiss-Prot),   V9HWK0 (UniProtKB/TrEMBL),   A0A024RD94 (UniProtKB/TrEMBL),   Q71V07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001254651   ⟸   NM_001267722
- Peptide Label: isoform 2
- UniProtKB: Q71V07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309960   ⟸   XM_024454192
- Peptide Label: isoform X1
- UniProtKB: Q86X80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000473576   ⟸   ENST00000504757
RefSeq Acc Id: ENSP00000425190   ⟸   ENST00000505314
RefSeq Acc Id: ENSP00000424576   ⟸   ENST00000510663
RefSeq Acc Id: ENSP00000495128   ⟸   ENST00000642900
RefSeq Acc Id: XP_054206725   ⟸   XM_054350750
- Peptide Label: isoform X1
Protein Domains
Signal recognition particle SRP72 subunit RNA-

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O76094-F1-model_v2 AlphaFold O76094 1-671 view protein structure

Promoters
RGD ID:6867516
Promoter ID:EPDNEW_H6923
Type:initiation region
Name:SRP72_1
Description:signal recognition particle 72
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,467,634 - 56,467,694EPDNEW
RGD ID:6802633
Promoter ID:HG_KWN:48298
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000250782,   UC010IHE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36457,027,351 - 57,028,522 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11303 AgrOrtholog
COSMIC SRP72 COSMIC
Ensembl Genes ENSG00000174780 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000504757.2 UniProtKB/TrEMBL
  ENST00000505314.2 UniProtKB/TrEMBL
  ENST00000510663 ENTREZGENE
  ENST00000510663.6 UniProtKB/Swiss-Prot
  ENST00000642900 ENTREZGENE
  ENST00000642900.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000174780 GTEx
HGNC ID HGNC:11303 ENTREZGENE
Human Proteome Map SRP72 Human Proteome Map
InterPro Signal_recog_part_SRP72_RNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRP72 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRP_TPR-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6731 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6731 ENTREZGENE
OMIM 602122 OMIM
PANTHER PTHR14094 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SIGNAL RECOGNITION PARTICLE SUBUNIT SRP72 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SRP72 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRP_TPR_like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36127 PharmGKB
PIRSF SRP72 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot
SMART TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RD94 ENTREZGENE
  A0PJJ5_HUMAN UniProtKB/TrEMBL
  D6RDY6_HUMAN UniProtKB/TrEMBL
  G5E9Z8 ENTREZGENE
  O76094 ENTREZGENE
  Q0D2M6_HUMAN UniProtKB/TrEMBL
  Q71V07 ENTREZGENE, UniProtKB/TrEMBL
  Q7Z3C0 ENTREZGENE
  Q86X80 ENTREZGENE, UniProtKB/TrEMBL
  R4GNC1_HUMAN UniProtKB/TrEMBL
  SRP72_HUMAN UniProtKB/Swiss-Prot
  V9HWK0 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0A024RD94 UniProtKB/TrEMBL
  G5E9Z8 UniProtKB/Swiss-Prot
  Q7Z3C0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 SRP72  signal recognition particle 72    signal recognition particle 72kDa  Symbol and/or name change 5135510 APPROVED