LAMB1 (laminin subunit beta 1) - Rat Genome Database

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Gene: LAMB1 (laminin subunit beta 1) Homo sapiens
Analyze
Symbol: LAMB1
Name: laminin subunit beta 1
RGD ID: 1314859
HGNC Page HGNC:6486
Description: An extracellular matrix structural constituent. Involved in several processes, including endodermal cell differentiation; neurogenesis; and substrate adhesion-dependent cell spreading. Located in basement membrane and extracellular space. Part of laminin complex. Implicated in autistic disorder and lissencephaly 5.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CLM; cutis laxa with marfanoid phenotype; laminin B1 chain; laminin subunit beta-1; laminin, beta 1; laminin-1 subunit beta; laminin-10 subunit beta; laminin-12 subunit beta; laminin-2 subunit beta; laminin-6 subunit beta; laminin-8 subunit beta; LIS5; MGC142015
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387107,923,799 - 108,003,161 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl7107,923,799 - 108,003,213 (-)EnsemblGRCh38hg38GRCh38
GRCh377107,564,244 - 107,643,606 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367107,351,499 - 107,431,040 (-)NCBINCBI36Build 36hg18NCBI36
Build 347107,158,213 - 107,237,755NCBI
Celera7102,371,233 - 102,450,770 (-)NCBICelera
Cytogenetic Map7q31.1NCBI
HuRef7101,926,690 - 102,006,298 (-)NCBIHuRef
CHM1_17107,497,967 - 107,577,516 (-)NCBICHM1_1
T2T-CHM13v2.07109,241,996 - 109,321,407 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27106,925,375 - 107,004,933 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (ISO)
6alpha-methylprednisolone  (ISO)
acetic acid  (ISO)
acrolein  (EXP)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
atrazine  (EXP)
bazedoxifene  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
bilirubin IXalpha  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromochloroacetic acid  (ISO)
butanal  (EXP)
caffeine  (EXP)
carbamazepine  (EXP)
chloropicrin  (EXP)
chloroquine  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
cocaine  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
Cuprizon  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
deoxynivalenol  (EXP)
dexamethasone  (ISO)
dieldrin  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enalapril  (ISO)
ethyl methanesulfonate  (EXP)
fenamidone  (ISO)
fipronil  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glucose  (ISO)
griseofulvin  (ISO)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
ketamine  (ISO)
L-methionine  (ISO)
lactacystin  (ISO)
lipopolysaccharide  (EXP)
methyl methanesulfonate  (EXP)
methylmercury(1+)  (EXP)
miconazole  (ISO)
mitoxantrone  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nicotine  (EXP)
nitrofen  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
ochratoxin A  (EXP)
oleic acid  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
potassium chromate  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
thapsigargin  (EXP,ISO)
thioacetamide  (ISO)
topotecan  (ISO)
Tributyltin oxide  (EXP,ISO)
triclosan  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. Bonora E, etal., Eur J Hum Genet. 2005 Feb;13(2):198-207.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1678389   PMID:1864606   PMID:1975589   PMID:2099832   PMID:2119632   PMID:2563160   PMID:2704655   PMID:3109910   PMID:3493487   PMID:3611077   PMID:3661559   PMID:3794389  
PMID:7921537   PMID:8702753   PMID:9184849   PMID:9196901   PMID:9309712   PMID:9435560   PMID:9647658   PMID:10225960   PMID:10407855   PMID:10671376   PMID:10801807   PMID:10842354  
PMID:10964500   PMID:11054877   PMID:11067943   PMID:11096140   PMID:11311202   PMID:11683410   PMID:11891225   PMID:12477932   PMID:12615822   PMID:12743034   PMID:12853948   PMID:14557481  
PMID:15123239   PMID:15474030   PMID:15604093   PMID:15706419   PMID:15894315   PMID:15967115   PMID:15987446   PMID:16146715   PMID:16236823   PMID:16289578   PMID:16335952   PMID:16344560  
PMID:16713569   PMID:17170699   PMID:17517882   PMID:18029348   PMID:18162078   PMID:18450753   PMID:18474427   PMID:18691630   PMID:19037095   PMID:19058789   PMID:19122664   PMID:19147489  
PMID:19416897   PMID:19526105   PMID:19834535   PMID:19915572   PMID:20201926   PMID:20228799   PMID:20360068   PMID:20936779   PMID:21078624   PMID:21276136   PMID:21362503   PMID:21370991  
PMID:21744425   PMID:21873635   PMID:22261194   PMID:22268729   PMID:22863883   PMID:22939629   PMID:23154389   PMID:23382691   PMID:23472759   PMID:23658023   PMID:23679161   PMID:23948589  
PMID:24163370   PMID:24497408   PMID:24623722   PMID:24742657   PMID:24804215   PMID:24951930   PMID:24986923   PMID:25037231   PMID:25664710   PMID:25665578   PMID:25774865   PMID:25921289  
PMID:26057585   PMID:26186194   PMID:26344197   PMID:26359947   PMID:26438063   PMID:26496610   PMID:26555376   PMID:27068509   PMID:27559042   PMID:27684187   PMID:28077445   PMID:28214208  
PMID:28444932   PMID:28514442   PMID:28675297   PMID:28675934   PMID:28783171   PMID:29108990   PMID:29479990   PMID:29507755   PMID:29599141   PMID:29859926   PMID:30833792   PMID:30920297  
PMID:31180068   PMID:31180492   PMID:31343991   PMID:31353912   PMID:31753913   PMID:32085798   PMID:32296183   PMID:32322062   PMID:32356431   PMID:32409323   PMID:32460013   PMID:33001583  
PMID:33435161   PMID:33545068   PMID:33644029   PMID:33784890   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34606115   PMID:34709727   PMID:35256949   PMID:35271311   PMID:35436411  
PMID:35445627   PMID:35563538   PMID:35763670   PMID:35831314   PMID:35843586   PMID:35944360  


Genomics

Comparative Map Data
LAMB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387107,923,799 - 108,003,161 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl7107,923,799 - 108,003,213 (-)EnsemblGRCh38hg38GRCh38
GRCh377107,564,244 - 107,643,606 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367107,351,499 - 107,431,040 (-)NCBINCBI36Build 36hg18NCBI36
Build 347107,158,213 - 107,237,755NCBI
Celera7102,371,233 - 102,450,770 (-)NCBICelera
Cytogenetic Map7q31.1NCBI
HuRef7101,926,690 - 102,006,298 (-)NCBIHuRef
CHM1_17107,497,967 - 107,577,516 (-)NCBICHM1_1
T2T-CHM13v2.07109,241,996 - 109,321,407 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27106,925,375 - 107,004,933 (-)NCBI
Lamb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391231,315,230 - 31,379,643 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1231,315,233 - 31,379,643 (+)EnsemblGRCm39 Ensembl
GRCm381231,265,146 - 31,329,644 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1231,265,234 - 31,329,644 (+)EnsemblGRCm38mm10GRCm38
MGSCv371231,950,159 - 32,014,504 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361231,851,443 - 31,915,700 (+)NCBIMGSCv36mm8
Celera1232,713,386 - 32,777,732 (+)NCBICelera
Cytogenetic Map12A2NCBI
cM Map1213.39NCBI
Lamb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2647,835,492 - 47,902,585 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl647,835,525 - 47,902,585 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0650,528,796 - 50,596,593 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl650,528,823 - 50,596,079 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0659,204,031 - 59,271,336 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4649,115,671 - 49,183,374 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1649,109,263 - 49,186,072 (+)NCBI
Celera647,038,296 - 47,105,077 (+)NCBICelera
Cytogenetic Map6q16NCBI
Lamb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541012,241,235 - 12,305,433 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541012,241,235 - 12,305,433 (-)NCBIChiLan1.0ChiLan1.0
LAMB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.17112,627,488 - 112,706,554 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7112,627,488 - 112,706,554 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0799,905,761 - 99,985,233 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
LAMB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11812,634,640 - 12,700,311 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1812,630,554 - 12,700,308 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1812,273,909 - 12,344,544 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01812,901,205 - 12,971,843 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1812,886,065 - 13,160,390 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11812,719,649 - 12,788,770 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01812,639,931 - 12,709,079 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01812,866,134 - 12,936,827 (+)NCBIUU_Cfam_GSD_1.0
Lamb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511855,053,363 - 55,121,513 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647916,177,158 - 16,247,165 (+)EnsemblSpeTri2.0
SpeTri2.0NW_00493647916,177,200 - 16,245,268 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LAMB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9107,671,152 - 107,772,269 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19107,670,120 - 107,747,242 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29118,440,049 - 118,515,695 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LAMB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12176,829,287 - 76,914,348 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2176,829,443 - 76,914,324 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604226,949,313 - 27,034,081 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lamb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473921,771,226 - 21,843,884 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473921,771,617 - 21,843,888 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LAMB1
442 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Gln1053delinsProValLeuValSerSerTer) indel Cobblestone lissencephaly without muscular or ocular involvement [RCV000034856] Chr7:107952145..107952158 [GRCh38]
Chr7:107592590..107592603 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.2109+1G>T single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV000034857] Chr7:107961205 [GRCh38]
Chr7:107601650 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.350-7C>G single nucleotide variant not provided [RCV000579205] Chr7:107994967 [GRCh38]
Chr7:107635412 [GRCh37]
Chr7:7q31.1		 uncertain significance
GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1 copy number loss See cases [RCV000050924] Chr7:101807149..112414850 [GRCh38]
Chr7:101450429..112054905 [GRCh37]
Chr7:101237149..111842141 [NCBI36]
Chr7:7q22.1-31.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1 copy number loss See cases [RCV000054158] Chr7:106261939..111228036 [GRCh38]
Chr7:105902385..110868092 [GRCh37]
Chr7:105689621..110655328 [NCBI36]
Chr7:7q22.3-31.1		 pathogenic
NM_002291.3(LAMB1):c.4318G>A (p.Ala1440Thr) single nucleotide variant not provided [RCV002036609] Chr7:107932248 [GRCh38]
Chr7:107572693 [GRCh37]
Chr7:107359929 [NCBI36]
Chr7:7q31.1		 uncertain significance|not provided
NM_002291.3(LAMB1):c.2458C>T (p.Pro820Ser) single nucleotide variant not provided [RCV001093482] Chr7:107959691 [GRCh38]
Chr7:107600136 [GRCh37]
Chr7:107387372 [NCBI36]
Chr7:7q31.1		 uncertain significance|not provided
NM_002291.2(LAMB1):c.2457A>T (p.Lys819Asn) single nucleotide variant Malignant melanoma [RCV000067575] Chr7:107959692 [GRCh38]
Chr7:107600137 [GRCh37]
Chr7:107387373 [NCBI36]
Chr7:7q31.1		 not provided
NM_002291.2(LAMB1):c.1384C>T (p.Pro462Ser) single nucleotide variant Malignant melanoma [RCV000067576] Chr7:107975084 [GRCh38]
Chr7:107615529 [GRCh37]
Chr7:107402765 [NCBI36]
Chr7:7q31.1		 not provided
NM_002291.2(LAMB1):c.4423G>A (p.Ala1475Thr) single nucleotide variant Malignant melanoma [RCV000061527] Chr7:107931470 [GRCh38]
Chr7:107571915 [GRCh37]
Chr7:107359151 [NCBI36]
Chr7:7q31.1		 not provided
NM_002291.2(LAMB1):c.470G>A (p.Gly157Glu) single nucleotide variant Malignant melanoma [RCV000061528] Chr7:107986317 [GRCh38]
Chr7:107626762 [GRCh37]
Chr7:107413998 [NCBI36]
Chr7:7q31.1		 not provided
NM_002291.3(LAMB1):c.1464G>A (p.Gln488_His489=) single nucleotide variant not provided [RCV003104406] Chr7:107975004 [GRCh38]
Chr7:107615449 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3946+44C>T single nucleotide variant not provided [RCV001564931] Chr7:107937049 [GRCh38]
Chr7:107577494 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3947-254A>G single nucleotide variant not provided [RCV001565234] Chr7:107935910 [GRCh38]
Chr7:107576355 [GRCh37]
Chr7:7q31.1		 likely benign
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1 copy number loss See cases [RCV000137522] Chr7:102196924..121278641 [GRCh38]
Chr7:101912320..120918695 [GRCh37]
Chr7:101626924..120705931 [NCBI36]
Chr7:7q22.1-31.31		 pathogenic
GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1 copy number loss See cases [RCV000142628] Chr7:105575647..107949294 [GRCh38]
Chr7:105216094..107589739 [GRCh37]
Chr7:105003330..107376975 [NCBI36]
Chr7:7q22.3-31.1		 uncertain significance
NM_002291.3(LAMB1):c.1422C>G (p.Ser474=) single nucleotide variant not provided [RCV000900377]|not specified [RCV000192718] Chr7:107975046 [GRCh38]
Chr7:107615491 [GRCh37]
Chr7:7q31.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002291.3(LAMB1):c.4221C>T (p.Ser1407=) single nucleotide variant not provided [RCV000967063]|not specified [RCV000193108] Chr7:107932345 [GRCh38]
Chr7:107572790 [GRCh37]
Chr7:7q31.1		 benign|likely benign
NM_002291.3(LAMB1):c.1698+9G>C single nucleotide variant not specified [RCV000194035] Chr7:107964543 [GRCh38]
Chr7:107604988 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4067T>C (p.Val1356Ala) single nucleotide variant not specified [RCV000195246] Chr7:107935536 [GRCh38]
Chr7:107575981 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1442G>T (p.Cys481Phe) single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV000210961] Chr7:107975026 [GRCh38]
Chr7:107615471 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.2931del (p.Gln977fs) deletion Cobblestone lissencephaly without muscular or ocular involvement [RCV000211028] Chr7:107953678 [GRCh38]
Chr7:107594123 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.476C>G (p.Thr159Ser) single nucleotide variant not provided [RCV000880797]|not specified [RCV000238708] Chr7:107986311 [GRCh38]
Chr7:107626756 [GRCh37]
Chr7:7q31.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002291.3(LAMB1):c.1033C>T (p.His345Tyr) single nucleotide variant not provided [RCV000487991] Chr7:107975845 [GRCh38]
Chr7:107616290 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.38-151C>T single nucleotide variant not provided [RCV001574380] Chr7:108001884 [GRCh38]
Chr7:107642329 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1844G>A (p.Arg615His) single nucleotide variant not provided [RCV001567056] Chr7:107962918 [GRCh38]
Chr7:107603363 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4075G>A (p.Val1359Met) single nucleotide variant not provided [RCV000488917] Chr7:107935528 [GRCh38]
Chr7:107575973 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5225-7C>T single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV001730675]|Leigh syndrome [RCV000363636]|Maple syrup urine disease [RCV000276408]|Pyruvate dehydrogenase complex deficiency [RCV000325321]|not provided [RCV001511889]|not specified [RCV000423681] Chr7:107924094 [GRCh38]
Chr7:107564539 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4562T>G (p.Ile1521Ser) single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV000625937] Chr7:107929595 [GRCh38]
Chr7:107570040 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4408_4409del (p.Leu1470fs) deletion not provided [RCV000598524] Chr7:107931484..107931485 [GRCh38]
Chr7:107571929..107571930 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3300G>A (p.Thr1100=) single nucleotide variant not provided [RCV001855220]|not specified [RCV000600022] Chr7:107951317 [GRCh38]
Chr7:107591762 [GRCh37]
Chr7:7q31.1		 likely benign|uncertain significance
NM_002291.3(LAMB1):c.55G>A (p.Val19Met) single nucleotide variant not specified [RCV000413824] Chr7:108001716 [GRCh38]
Chr7:107642161 [GRCh37]
Chr7:7q31.1		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_002291.3(LAMB1):c.1483-14G>A single nucleotide variant not provided [RCV002062548]|not specified [RCV000417414] Chr7:107973085 [GRCh38]
Chr7:107613530 [GRCh37]
Chr7:7q31.1		 benign|likely benign
NM_002291.3(LAMB1):c.4182C>T (p.Ala1394=) single nucleotide variant not provided [RCV001512076]|not specified [RCV000424050] Chr7:107935421 [GRCh38]
Chr7:107575866 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.-22C>T single nucleotide variant not specified [RCV000434356] Chr7:108002907 [GRCh38]
Chr7:107643352 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.5225-10C>A single nucleotide variant not provided [RCV001511890]|not specified [RCV000434563] Chr7:107924097 [GRCh38]
Chr7:107564542 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3300G>C (p.Thr1100=) single nucleotide variant not provided [RCV000969849]|not specified [RCV000441482] Chr7:107951317 [GRCh38]
Chr7:107591762 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4281G>T (p.Gly1427=) single nucleotide variant not provided [RCV000947059]|not specified [RCV000427805] Chr7:107932285 [GRCh38]
Chr7:107572730 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4236C>T (p.Gly1412=) single nucleotide variant not provided [RCV000884665]|not specified [RCV000431395] Chr7:107932330 [GRCh38]
Chr7:107572775 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3141C>T (p.Cys1047=) single nucleotide variant not provided [RCV000955378]|not specified [RCV000434700] Chr7:107952162 [GRCh38]
Chr7:107592607 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1370-18C>T single nucleotide variant not provided [RCV001520251]|not specified [RCV000438116] Chr7:107975116 [GRCh38]
Chr7:107615561 [GRCh37]
Chr7:7q31.1		 benign|likely benign
NM_002291.3(LAMB1):c.4879T>C (p.Leu1627=) single nucleotide variant not provided [RCV001511891]|not specified [RCV000424294] Chr7:107929072 [GRCh38]
Chr7:107569517 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2578G>A (p.Gly860Ser) single nucleotide variant not provided [RCV001523723]|not specified [RCV000438444] Chr7:107959361 [GRCh38]
Chr7:107599806 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.885C>T (p.His295=) single nucleotide variant not provided [RCV000884684] Chr7:107978162 [GRCh38]
Chr7:107618607 [GRCh37]
Chr7:7q31.1		 benign|likely benign
NM_002291.3(LAMB1):c.3447C>T (p.Gly1149=) single nucleotide variant not provided [RCV000884666]|not specified [RCV000421116] Chr7:107940303 [GRCh38]
Chr7:107580748 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.5268T>C (p.Asp1756=) single nucleotide variant not specified [RCV000428168] Chr7:107924044 [GRCh38]
Chr7:107564489 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1407G>A (p.Gly469=) single nucleotide variant not provided [RCV001517539]|not specified [RCV000428243] Chr7:107975061 [GRCh38]
Chr7:107615506 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3342C>T (p.Cys1114=) single nucleotide variant not provided [RCV001511892]|not specified [RCV000442315] Chr7:107951275 [GRCh38]
Chr7:107591720 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2009T>C (p.Val670Ala) single nucleotide variant not provided [RCV000884683]|not specified [RCV000438823] Chr7:107961306 [GRCh38]
Chr7:107601751 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1776T>G (p.Pro592=) single nucleotide variant not provided [RCV001511894]|not specified [RCV000421491] Chr7:107962986 [GRCh38]
Chr7:107603431 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2854+20T>G single nucleotide variant not provided [RCV001513216]|not specified [RCV000421604] Chr7:107955447 [GRCh38]
Chr7:107595892 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.349+19G>A single nucleotide variant not provided [RCV002063607]|not specified [RCV000432074] Chr7:107998338 [GRCh38]
Chr7:107638783 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3065A>G (p.Gln1022Arg) single nucleotide variant not provided [RCV001511893]|not specified [RCV000439104] Chr7:107953544 [GRCh38]
Chr7:107593989 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3444G>A (p.Thr1148=) single nucleotide variant not specified [RCV000421689] Chr7:107940306 [GRCh38]
Chr7:107580751 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.462C>T (p.Ser154=) single nucleotide variant not provided [RCV001517540]|not specified [RCV000428885] Chr7:107986325 [GRCh38]
Chr7:107626770 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3391+19C>T single nucleotide variant not provided [RCV002063560]|not specified [RCV000439304] Chr7:107951207 [GRCh38]
Chr7:107591652 [GRCh37]
Chr7:7q31.1		 benign|likely benign
NM_002291.3(LAMB1):c.1382A>G (p.Asn461Ser) single nucleotide variant not provided [RCV000425535] Chr7:107975086 [GRCh38]
Chr7:107615531 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3639C>T (p.Ile1213=) single nucleotide variant not provided [RCV002522532]|not specified [RCV000435982] Chr7:107940111 [GRCh38]
Chr7:107580556 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1977A>G (p.Pro659=) single nucleotide variant not specified [RCV000439622] Chr7:107961557 [GRCh38]
Chr7:107602002 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1370-13T>G single nucleotide variant not provided [RCV000432649] Chr7:107975111 [GRCh38]
Chr7:107615556 [GRCh37]
Chr7:7q31.1		 benign|likely benign|uncertain significance
NM_002291.3(LAMB1):c.2869G>A (p.Asp957Asn) single nucleotide variant not provided [RCV002062369]|not specified [RCV000432725] Chr7:107953740 [GRCh38]
Chr7:107594185 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3650G>T (p.Arg1217Leu) single nucleotide variant not provided [RCV000893999] Chr7:107940100 [GRCh38]
Chr7:107580545 [GRCh37]
Chr7:7q31.1		 benign|likely benign
NM_002291.3(LAMB1):c.1137G>A (p.Pro379=) single nucleotide variant not provided [RCV000956523]|not specified [RCV000443474] Chr7:107975741 [GRCh38]
Chr7:107616186 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3124G>A (p.Gly1042Ser) single nucleotide variant Inborn genetic diseases [RCV002524712]|not provided [RCV000427822] Chr7:107952179 [GRCh38]
Chr7:107592624 [GRCh37]
Chr7:7q31.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002291.3(LAMB1):c.4929C>T (p.Asn1643=) single nucleotide variant not provided [RCV000965757]|not specified [RCV000422437] Chr7:107926318 [GRCh38]
Chr7:107566763 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1135C>T (p.Pro379Ser) single nucleotide variant not provided [RCV001511895]|not specified [RCV000443644] Chr7:107975743 [GRCh38]
Chr7:107616188 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2383C>G (p.Arg795Gly) single nucleotide variant not provided [RCV001511814]|not specified [RCV000422860] Chr7:107959766 [GRCh38]
Chr7:107600211 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3762-4A>G single nucleotide variant not specified [RCV000426365] Chr7:107937281 [GRCh38]
Chr7:107577726 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1572G>A (p.Ala524=) single nucleotide variant not provided [RCV000965360]|not specified [RCV000436778] Chr7:107964678 [GRCh38]
Chr7:107605123 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4640T>C (p.Ile1547Thr) single nucleotide variant not provided [RCV001513115]|not specified [RCV000444036] Chr7:107929517 [GRCh38]
Chr7:107569962 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2542G>C (p.Ala848Pro) single nucleotide variant not provided [RCV000514497]|not specified [RCV000426674] Chr7:107959397 [GRCh38]
Chr7:107599842 [GRCh37]
Chr7:7q31.1		 benign|likely benign
NM_002291.3(LAMB1):c.1693G>A (p.Gly565Arg) single nucleotide variant not provided [RCV000440710] Chr7:107964557 [GRCh38]
Chr7:107605002 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1985+12G>A single nucleotide variant not provided [RCV001519374]|not specified [RCV000430751] Chr7:107961537 [GRCh38]
Chr7:107601982 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2920C>G (p.Gln974Glu) single nucleotide variant not provided [RCV000967064]|not specified [RCV000433959] Chr7:107953689 [GRCh38]
Chr7:107594134 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.468T>C (p.Phe156=) single nucleotide variant not provided [RCV000884685] Chr7:107986319 [GRCh38]
Chr7:107626764 [GRCh37]
Chr7:7q31.1		 benign|likely benign
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
NM_002291.3(LAMB1):c.349+16_349+17dup duplication not provided [RCV002063779]|not specified [RCV000483456] Chr7:107998337..107998338 [GRCh38]
Chr7:107638782..107638783 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.5225-9_5225-8insTA insertion not provided [RCV001394121] Chr7:107924095..107924096 [GRCh38]
Chr7:107564540..107564541 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1136C>T (p.Pro379Leu) single nucleotide variant not provided [RCV000523078] Chr7:107975742 [GRCh38]
Chr7:107616187 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2724dup (p.Gly909fs) duplication not provided [RCV000480288] Chr7:107955596..107955597 [GRCh38]
Chr7:107596041..107596042 [GRCh37]
Chr7:7q31.1		 pathogenic|likely pathogenic
NM_002291.3(LAMB1):c.1944C>T (p.Pro648=) single nucleotide variant not specified [RCV000503267] Chr7:107961590 [GRCh38]
Chr7:107602035 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1153C>G (p.Pro385Ala) single nucleotide variant not specified [RCV000500985] Chr7:107975725 [GRCh38]
Chr7:107616170 [GRCh37]
Chr7:7q31.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_002291.3(LAMB1):c.3038G>A (p.Arg1013Gln) single nucleotide variant not provided [RCV001558489]|not specified [RCV000501774] Chr7:107953571 [GRCh38]
Chr7:107594016 [GRCh37]
Chr7:7q31.1		 likely benign|uncertain significance
NM_002291.3(LAMB1):c.3481C>T (p.Arg1161Cys) single nucleotide variant not provided [RCV000998893]|not specified [RCV000504123] Chr7:107940269 [GRCh38]
Chr7:107580714 [GRCh37]
Chr7:7q31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_002291.3(LAMB1):c.809dup (p.Asn270fs) duplication not provided [RCV000523229] Chr7:107980678..107980679 [GRCh38]
Chr7:107621123..107621124 [GRCh37]
Chr7:7q31.1		 likely pathogenic
NM_002291.3(LAMB1):c.1590A>C (p.Ser530=) single nucleotide variant not provided [RCV000838647]|not specified [RCV000504360] Chr7:107964660 [GRCh38]
Chr7:107605105 [GRCh37]
Chr7:7q31.1		 benign|likely benign
NM_002291.3(LAMB1):c.2604G>C (p.Gln868His) single nucleotide variant not provided [RCV000497543] Chr7:107959335 [GRCh38]
Chr7:107599780 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.544A>G (p.Met182Val) single nucleotide variant not provided [RCV001755744]|not specified [RCV000499986] Chr7:107986243 [GRCh38]
Chr7:107626688 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3012G>A (p.Thr1004=) single nucleotide variant not provided [RCV000962298]|not specified [RCV000500092] Chr7:107953597 [GRCh38]
Chr7:107594042 [GRCh37]
Chr7:7q31.1		 benign|likely benign
NM_002291.3(LAMB1):c.4562T>C (p.Ile1521Thr) single nucleotide variant not provided [RCV001857118]|not specified [RCV000502365] Chr7:107929595 [GRCh38]
Chr7:107570040 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2691-9C>T single nucleotide variant not specified [RCV000502488] Chr7:107955639 [GRCh38]
Chr7:107596084 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1736G>A (p.Arg579Gln) single nucleotide variant not provided [RCV000881280]|not specified [RCV000502742] Chr7:107963026 [GRCh38]
Chr7:107603471 [GRCh37]
Chr7:7q31.1		 likely benign|uncertain significance
NM_002291.3(LAMB1):c.1945G>A (p.Asp649Asn) single nucleotide variant not provided [RCV000895013]|not specified [RCV000500852] Chr7:107961589 [GRCh38]
Chr7:107602034 [GRCh37]
Chr7:7q31.1		 likely benign|uncertain significance
NM_002291.3(LAMB1):c.4643G>A (p.Arg1548His) single nucleotide variant not provided [RCV000494636] Chr7:107929514 [GRCh38]
Chr7:107569959 [GRCh37]
Chr7:7q31.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_002291.3(LAMB1):c.981A>T (p.Arg327=) single nucleotide variant not specified [RCV000607814] Chr7:107978066 [GRCh38]
Chr7:107618511 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4888-8G>A single nucleotide variant not provided [RCV000956522]|not specified [RCV000609726] Chr7:107926367 [GRCh38]
Chr7:107566812 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.891C>T (p.His297=) single nucleotide variant not provided [RCV001718977] Chr7:107978156 [GRCh38]
Chr7:107618601 [GRCh37]
Chr7:7q31.1		 benign|likely benign
NM_002291.3(LAMB1):c.1074C>T (p.Ser358=) single nucleotide variant not provided [RCV000919779]|not specified [RCV000601778] Chr7:107975804 [GRCh38]
Chr7:107616249 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1985+11C>G single nucleotide variant not provided [RCV002063056]|not specified [RCV000607244] Chr7:107961538 [GRCh38]
Chr7:107601983 [GRCh37]
Chr7:7q31.1		 benign|likely benign
NM_002291.3(LAMB1):c.4074C>T (p.Asp1358=) single nucleotide variant not specified [RCV000607302] Chr7:107935529 [GRCh38]
Chr7:107575974 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3498G>A (p.Thr1166=) single nucleotide variant not provided [RCV002065416]|not specified [RCV000610770] Chr7:107940252 [GRCh38]
Chr7:107580697 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1482+19C>T single nucleotide variant not provided [RCV002060635]|not specified [RCV000613975] Chr7:107974967 [GRCh38]
Chr7:107615412 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3946+16T>C single nucleotide variant not specified [RCV000611395] Chr7:107937077 [GRCh38]
Chr7:107577522 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.816C>T (p.Phe272=) single nucleotide variant not provided [RCV002066616]|not specified [RCV000614146] Chr7:107980672 [GRCh38]
Chr7:107621117 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.5225-6_5225-5del deletion not provided [RCV002062166]|not specified [RCV000608833] Chr7:107924092..107924093 [GRCh38]
Chr7:107564537..107564538 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2113G>C (p.Val705Leu) single nucleotide variant not provided [RCV000961809]|not specified [RCV001821746] Chr7:107960646 [GRCh38]
Chr7:107601091 [GRCh37]
Chr7:7q31.1		 benign|likely benign
NM_002291.3(LAMB1):c.5325A>T (p.Ile1775=) single nucleotide variant not specified [RCV000603385] Chr7:107923987 [GRCh38]
Chr7:107564432 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3135C>T (p.Cys1045=) single nucleotide variant not provided [RCV000902230] Chr7:107952168 [GRCh38]
Chr7:107592613 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2684G>A (p.Cys895Tyr) single nucleotide variant not specified [RCV000626187] Chr7:107959255 [GRCh38]
Chr7:107599700 [GRCh37]
Chr7:7q31.1		 likely pathogenic|likely benign
NM_002291.3(LAMB1):c.4393G>A (p.Val1465Ile) single nucleotide variant not specified [RCV000626182] Chr7:107931500 [GRCh38]
Chr7:107571945 [GRCh37]
Chr7:7q31.1		 likely pathogenic|uncertain significance
NM_002291.3(LAMB1):c.5272G>A (p.Ala1758Thr) single nucleotide variant not provided [RCV000513033] Chr7:107924040 [GRCh38]
Chr7:107564485 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2609A>G (p.Asn870Ser) single nucleotide variant not provided [RCV000513387] Chr7:107959330 [GRCh38]
Chr7:107599775 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4745G>T (p.Ser1582Ile) single nucleotide variant not provided [RCV000658374] Chr7:107929412 [GRCh38]
Chr7:107569857 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4183G>A (p.Glu1395Lys) single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV000680162]|not provided [RCV001592857] Chr7:107935420 [GRCh38]
Chr7:107575865 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5347A>G (p.Ser1783Gly) single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV000680163] Chr7:107923965 [GRCh38]
Chr7:107564410 [GRCh37]
Chr7:7q31.1		 uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
NM_002291.3(LAMB1):c.37+188G>A single nucleotide variant not provided [RCV001608990] Chr7:108002661 [GRCh38]
Chr7:107643106 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.214-237C>G single nucleotide variant not provided [RCV001540824] Chr7:107998729 [GRCh38]
Chr7:107639174 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3947-192C>T single nucleotide variant not provided [RCV001540891] Chr7:107935848 [GRCh38]
Chr7:107576293 [GRCh37]
Chr7:7q31.1		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_002291.3(LAMB1):c.1857+197del deletion not provided [RCV001691365] Chr7:107962708 [GRCh38]
Chr7:107603153 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2292C>T (p.Ala764=) single nucleotide variant not provided [RCV000979326] Chr7:107960467 [GRCh38]
Chr7:107600912 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1562+273T>C single nucleotide variant not provided [RCV001679016] Chr7:107972719 [GRCh38]
Chr7:107613164 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.234A>T (p.Ile78=) single nucleotide variant not provided [RCV000896319] Chr7:107998472 [GRCh38]
Chr7:107638917 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.38-164C>T single nucleotide variant not provided [RCV001546010] Chr7:108001897 [GRCh38]
Chr7:107642342 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4888-282A>G single nucleotide variant not provided [RCV001668873] Chr7:107926641 [GRCh38]
Chr7:107567086 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.855A>G (p.Gly285=) single nucleotide variant not provided [RCV000894826] Chr7:107980633 [GRCh38]
Chr7:107621078 [GRCh37]
Chr7:7q31.1		 benign|likely benign
NM_002291.3(LAMB1):c.37+145C>T single nucleotide variant not provided [RCV001567389] Chr7:108002704 [GRCh38]
Chr7:107643149 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4488C>T (p.Ser1496=) single nucleotide variant not provided [RCV000895603] Chr7:107931405 [GRCh38]
Chr7:107571850 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3594C>T (p.His1198=) single nucleotide variant not provided [RCV001550542] Chr7:107940156 [GRCh38]
Chr7:107580601 [GRCh37]
Chr7:7q31.1		 benign|likely benign
NM_002291.3(LAMB1):c.1000+97T>A single nucleotide variant not provided [RCV001576783] Chr7:107977950 [GRCh38]
Chr7:107618395 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.*85A>G single nucleotide variant not provided [RCV001576792] Chr7:107923866 [GRCh38]
Chr7:107564311 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.880-289del deletion not provided [RCV001640935] Chr7:107978456 [GRCh38]
Chr7:107618901 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1563-277T>C single nucleotide variant not provided [RCV001570210] Chr7:107964964 [GRCh38]
Chr7:107605409 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3079+42C>G single nucleotide variant not provided [RCV001574213] Chr7:107953488 [GRCh38]
Chr7:107593933 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.880-305dup duplication not provided [RCV001574404] Chr7:107978455..107978456 [GRCh38]
Chr7:107618900..107618901 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3077G>A (p.Arg1026Gln) single nucleotide variant not provided [RCV001547821] Chr7:107953532 [GRCh38]
Chr7:107593977 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4188+302C>T single nucleotide variant not provided [RCV001644368] Chr7:107935113 [GRCh38]
Chr7:107575558 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1571C>T (p.Ala524Val) single nucleotide variant not provided [RCV000905997] Chr7:107964679 [GRCh38]
Chr7:107605124 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.612+8T>G single nucleotide variant not provided [RCV000927490] Chr7:107986167 [GRCh38]
Chr7:107626612 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1848C>T (p.Tyr616=) single nucleotide variant not provided [RCV000975463] Chr7:107962914 [GRCh38]
Chr7:107603359 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3573C>T (p.Ala1191=) single nucleotide variant not provided [RCV000899849] Chr7:107940177 [GRCh38]
Chr7:107580622 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.5247C>T (p.Asp1749=) single nucleotide variant not provided [RCV000901248]|not specified [RCV001818751] Chr7:107924065 [GRCh38]
Chr7:107564510 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3699C>A (p.Ile1233=) single nucleotide variant not provided [RCV000983482] Chr7:107940051 [GRCh38]
Chr7:107580496 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1593C>T (p.Cys531=) single nucleotide variant not provided [RCV000902231] Chr7:107964657 [GRCh38]
Chr7:107605102 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1263C>T (p.Leu421=) single nucleotide variant not provided [RCV000897895] Chr7:107975340 [GRCh38]
Chr7:107615785 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2868C>T (p.Asp956=) single nucleotide variant not provided [RCV000880795] Chr7:107953741 [GRCh38]
Chr7:107594186 [GRCh37]
Chr7:7q31.1		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_002291.3(LAMB1):c.2557C>T (p.Arg853Trp) single nucleotide variant Inborn genetic diseases [RCV002548305]|not provided [RCV000965053] Chr7:107959382 [GRCh38]
Chr7:107599827 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1083G>A (p.Val361=) single nucleotide variant not provided [RCV000917601] Chr7:107975795 [GRCh38]
Chr7:107616240 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3510G>A (p.Ser1170=) single nucleotide variant not provided [RCV000970989] Chr7:107940240 [GRCh38]
Chr7:107580685 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2778A>T (p.Gly926=) single nucleotide variant not provided [RCV000921139] Chr7:107955543 [GRCh38]
Chr7:107595988 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.5225-22AT[8] microsatellite not provided [RCV000969951] Chr7:107924097..107924098 [GRCh38]
Chr7:107564542..107564543 [GRCh37]
Chr7:7q31.1		 benign|likely benign
NM_002291.3(LAMB1):c.1800C>T (p.Phe600=) single nucleotide variant not provided [RCV000904503] Chr7:107962962 [GRCh38]
Chr7:107603407 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2723T>C (p.Ile908Thr) single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV001335009]|not provided [RCV000880796] Chr7:107955598 [GRCh38]
Chr7:107596043 [GRCh37]
Chr7:7q31.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002291.3(LAMB1):c.1677G>A (p.Ala559=) single nucleotide variant not provided [RCV000954036] Chr7:107964573 [GRCh38]
Chr7:107605018 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3947-5C>T single nucleotide variant not provided [RCV000885617] Chr7:107935661 [GRCh38]
Chr7:107576106 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2855-10C>T single nucleotide variant not provided [RCV000927533] Chr7:107953764 [GRCh38]
Chr7:107594209 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2277C>A (p.Ile759=) single nucleotide variant not provided [RCV000954434] Chr7:107960482 [GRCh38]
Chr7:107600927 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2691-275dup duplication not provided [RCV000841082] Chr7:107955898..107955899 [GRCh38]
Chr7:107596343..107596344 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3762-283C>T single nucleotide variant not provided [RCV000841182] Chr7:107937560 [GRCh38]
Chr7:107578005 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3642G>T (p.Gly1214=) single nucleotide variant not provided [RCV000827547]|not specified [RCV001816915] Chr7:107940108 [GRCh38]
Chr7:107580553 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.-87+35A>C single nucleotide variant not provided [RCV000843106] Chr7:108003076 [GRCh38]
Chr7:107643521 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.423+227C>G single nucleotide variant not provided [RCV000843107] Chr7:107994660 [GRCh38]
Chr7:107635105 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.424-186T>C single nucleotide variant not provided [RCV000843108] Chr7:107986549 [GRCh38]
Chr7:107626994 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.5065-173T>G single nucleotide variant not provided [RCV000843141] Chr7:107924562 [GRCh38]
Chr7:107565007 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4538-129A>T single nucleotide variant not provided [RCV000843149] Chr7:107929748 [GRCh38]
Chr7:107570193 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4887+95A>T single nucleotide variant not provided [RCV000843150] Chr7:107928969 [GRCh38]
Chr7:107569414 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1539C>T (p.Asp513=) single nucleotide variant not provided [RCV000827208] Chr7:107973015 [GRCh38]
Chr7:107613460 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.676+228G>A single nucleotide variant not provided [RCV000843109] Chr7:107985794 [GRCh38]
Chr7:107626239 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1000+72T>C single nucleotide variant not provided [RCV000843114] Chr7:107977975 [GRCh38]
Chr7:107618420 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1562+58C>T single nucleotide variant not provided [RCV000843115] Chr7:107972934 [GRCh38]
Chr7:107613379 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1562+230A>G single nucleotide variant not provided [RCV000843116] Chr7:107972762 [GRCh38]
Chr7:107613207 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1189+56C>T single nucleotide variant not provided [RCV000843117] Chr7:107975633 [GRCh38]
Chr7:107616078 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1189+66A>G single nucleotide variant not provided [RCV000843118] Chr7:107975623 [GRCh38]
Chr7:107616068 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1698+179A>C single nucleotide variant not provided [RCV000843119] Chr7:107964373 [GRCh38]
Chr7:107604818 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1189+85G>T single nucleotide variant not provided [RCV000843120] Chr7:107975604 [GRCh38]
Chr7:107616049 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1189+123G>C single nucleotide variant not provided [RCV000843121] Chr7:107975566 [GRCh38]
Chr7:107616011 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1482+157G>A single nucleotide variant not provided [RCV000843122] Chr7:107974829 [GRCh38]
Chr7:107615274 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2109+128A>G single nucleotide variant not provided [RCV000843123] Chr7:107961078 [GRCh38]
Chr7:107601523 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3295-147T>C single nucleotide variant not provided [RCV000843124] Chr7:107951469 [GRCh38]
Chr7:107591914 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3392-232T>C single nucleotide variant not provided [RCV000843125] Chr7:107940590 [GRCh38]
Chr7:107581035 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3392-36T>C single nucleotide variant not provided [RCV000843126] Chr7:107940394 [GRCh38]
Chr7:107580839 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3946+148A>C single nucleotide variant not provided [RCV000843127] Chr7:107936945 [GRCh38]
Chr7:107577390 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.5064+140C>A single nucleotide variant not provided [RCV000843128] Chr7:107926043 [GRCh38]
Chr7:107566488 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.5064+198T>C single nucleotide variant not provided [RCV000843129] Chr7:107925985 [GRCh38]
Chr7:107566430 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1563-180C>T single nucleotide variant not provided [RCV000837136] Chr7:107964867 [GRCh38]
Chr7:107605312 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2906T>C (p.Val969Ala) single nucleotide variant not provided [RCV000998894] Chr7:107953703 [GRCh38]
Chr7:107594148 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1563-280G>A single nucleotide variant not provided [RCV000841080] Chr7:107964967 [GRCh38]
Chr7:107605412 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2315-279G>A single nucleotide variant not provided [RCV000841081] Chr7:107960113 [GRCh38]
Chr7:107600558 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3392-312G>C single nucleotide variant not provided [RCV000841083] Chr7:107940670 [GRCh38]
Chr7:107581115 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.5065-304G>A single nucleotide variant not provided [RCV000841084] Chr7:107924693 [GRCh38]
Chr7:107565138 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2855-350C>T single nucleotide variant not provided [RCV000841091] Chr7:107954104 [GRCh38]
Chr7:107594549 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.676+281G>A single nucleotide variant not provided [RCV000841101] Chr7:107985741 [GRCh38]
Chr7:107626186 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4188+303C>T single nucleotide variant not provided [RCV000841102] Chr7:107935112 [GRCh38]
Chr7:107575557 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3080-289T>G single nucleotide variant not provided [RCV000841147] Chr7:107952512 [GRCh38]
Chr7:107592957 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1189+11A>G single nucleotide variant not provided [RCV000842553] Chr7:107975678 [GRCh38]
Chr7:107616123 [GRCh37]
Chr7:7q31.1		 benign|likely benign
GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1 copy number loss not provided [RCV001005991] Chr7:106617406..123217914 [GRCh37]
Chr7:7q22.3-31.32		 pathogenic
GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1 copy number loss not provided [RCV000846765] Chr7:107410314..117825549 [GRCh37]
Chr7:7q31.1-31.31		 pathogenic
GRCh37/hg19 7q31.1(chr7:107441501-108433812)x1 copy number loss not provided [RCV001005992] Chr7:107441501..108433812 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.313_314del (p.Pro105fs) deletion not provided [RCV001008519] Chr7:107998392..107998393 [GRCh38]
Chr7:107638837..107638838 [GRCh37]
Chr7:7q31.1		 likely pathogenic
NM_002291.3(LAMB1):c.452A>G (p.Glu151Gly) single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV001197745] Chr7:107986335 [GRCh38]
Chr7:107626780 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.186A>G (p.Glu62_Pro63=) single nucleotide variant not provided [RCV003104985] Chr7:108001585 [GRCh38]
Chr7:107642030 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4392+34T>C single nucleotide variant not provided [RCV001568294] Chr7:107932140 [GRCh38]
Chr7:107572585 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.880-291_880-289del deletion not provided [RCV001582014] Chr7:107978456..107978458 [GRCh38]
Chr7:107618901..107618903 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3392-302A>T single nucleotide variant not provided [RCV001564553] Chr7:107940660 [GRCh38]
Chr7:107581105 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3080-177G>A single nucleotide variant not provided [RCV001581538] Chr7:107952400 [GRCh38]
Chr7:107592845 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.880-307_880-303del deletion not provided [RCV001545467] Chr7:107978470..107978474 [GRCh38]
Chr7:107618915..107618919 [GRCh37]
Chr7:7q31.1		 likely benign
NC_000007.13:g.(?_104456677)_(108155935_?)del deletion not provided [RCV003107618] Chr7:104456677..108155935 [GRCh37]
Chr7:7q22.2-31.1		 pathogenic
NC_000007.13:g.(?_107603330)_(107605152_?)del deletion not provided [RCV003107619] Chr7:107603330..107605152 [GRCh37]
Chr7:7q31.1		 pathogenic
NC_000007.13:g.(?_107591671)_(107592668_?)del deletion not provided [RCV003107620] Chr7:107591671..107592668 [GRCh37]
Chr7:7q31.1		 uncertain significance
NC_000007.13:g.(?_107613417)_(107643330_?)dup duplication not provided [RCV003107621] Chr7:107613417..107643330 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5225-22AT[4] microsatellite not provided [RCV001569828] Chr7:107924098..107924101 [GRCh38]
Chr7:107564543..107564546 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2691-297C>T single nucleotide variant not provided [RCV001570035] Chr7:107955927 [GRCh38]
Chr7:107596372 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3392-220_3392-219del deletion not provided [RCV001547619] Chr7:107940577..107940578 [GRCh38]
Chr7:107581022..107581023 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1603A>G (p.Met535Val) single nucleotide variant not provided [RCV001552041] Chr7:107964647 [GRCh38]
Chr7:107605092 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4887+196_4887+198del deletion not provided [RCV001635751] Chr7:107928866..107928868 [GRCh38]
Chr7:107569311..107569313 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4188+62A>C single nucleotide variant not provided [RCV001569050] Chr7:107935353 [GRCh38]
Chr7:107575798 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.37+44A>G single nucleotide variant not provided [RCV001569297] Chr7:108002805 [GRCh38]
Chr7:107643250 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3946+276C>T single nucleotide variant not provided [RCV001556037] Chr7:107936817 [GRCh38]
Chr7:107577262 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.677-185C>T single nucleotide variant not provided [RCV001561588] Chr7:107980996 [GRCh38]
Chr7:107621441 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.213+31G>A single nucleotide variant not provided [RCV001561651] Chr7:108001527 [GRCh38]
Chr7:107641972 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1857+180dup duplication not provided [RCV001550789] Chr7:107962707..107962708 [GRCh38]
Chr7:107603152..107603153 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3011C>T (p.Thr1004Met) single nucleotide variant not provided [RCV001556522] Chr7:107953598 [GRCh38]
Chr7:107594043 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.213+271C>T single nucleotide variant not provided [RCV001713975] Chr7:108001287 [GRCh38]
Chr7:107641732 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1069G>A (p.Val357Ile) single nucleotide variant Inborn genetic diseases [RCV002570711]|not provided [RCV001556911] Chr7:107975809 [GRCh38]
Chr7:107616254 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.38-81C>G single nucleotide variant not provided [RCV001717729] Chr7:108001814 [GRCh38]
Chr7:107642259 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.38-39C>T single nucleotide variant not provided [RCV001717730] Chr7:108001772 [GRCh38]
Chr7:107642217 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.423+205G>T single nucleotide variant not provided [RCV001584963] Chr7:107994682 [GRCh38]
Chr7:107635127 [GRCh37]
Chr7:7q31.1		 likely benign
Single allele single nucleotide variant not provided [RCV001563258] Chr7:108003301 [GRCh38]
Chr7:107643746 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4188+58A>C single nucleotide variant not provided [RCV001620409] Chr7:107935357 [GRCh38]
Chr7:107575802 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4188+267C>T single nucleotide variant not provided [RCV001669988] Chr7:107935148 [GRCh38]
Chr7:107575593 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.423+28T>C single nucleotide variant not provided [RCV001570549] Chr7:107994859 [GRCh38]
Chr7:107635304 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4188+58_4188+71del deletion not provided [RCV001676892] Chr7:107935344..107935357 [GRCh38]
Chr7:107575789..107575802 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.677-50del deletion not provided [RCV001649949] Chr7:107980861 [GRCh38]
Chr7:107621306 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3392-27C>T single nucleotide variant not provided [RCV001566413] Chr7:107940385 [GRCh38]
Chr7:107580830 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1482+97C>A single nucleotide variant not provided [RCV001559461] Chr7:107974889 [GRCh38]
Chr7:107615334 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.350-67C>G single nucleotide variant not provided [RCV001656752] Chr7:107995027 [GRCh38]
Chr7:107635472 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.423+174A>G single nucleotide variant not provided [RCV001592700] Chr7:107994713 [GRCh38]
Chr7:107635158 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4392+161dup duplication not provided [RCV001585261] Chr7:107932012..107932013 [GRCh38]
Chr7:107572457..107572458 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3180G>A (p.Val1060=) single nucleotide variant not provided [RCV000899958] Chr7:107952123 [GRCh38]
Chr7:107592568 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1068C>T (p.Asn356=) single nucleotide variant not provided [RCV000927252] Chr7:107975810 [GRCh38]
Chr7:107616255 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1584G>A (p.Gln528=) single nucleotide variant not provided [RCV000885207] Chr7:107964666 [GRCh38]
Chr7:107605111 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4176C>T (p.Ala1392=) single nucleotide variant not provided [RCV000909026] Chr7:107935427 [GRCh38]
Chr7:107575872 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4036G>C (p.Val1346Leu) single nucleotide variant Inborn genetic diseases [RCV002540785]|not provided [RCV000909027] Chr7:107935567 [GRCh38]
Chr7:107576012 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2235C>T (p.Ser745=) single nucleotide variant not provided [RCV000909871] Chr7:107960524 [GRCh38]
Chr7:107600969 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2349C>T (p.Ser783=) single nucleotide variant not provided [RCV000907880] Chr7:107959800 [GRCh38]
Chr7:107600245 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2152G>A (p.Val718Met) single nucleotide variant Inborn genetic diseases [RCV002539351]|not provided [RCV000886172]|not specified [RCV001818633] Chr7:107960607 [GRCh38]
Chr7:107601052 [GRCh37]
Chr7:7q31.1		 likely benign|uncertain significance
NM_002291.3(LAMB1):c.4947C>T (p.Ser1649=) single nucleotide variant not provided [RCV000895299] Chr7:107926300 [GRCh38]
Chr7:107566745 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3705G>A (p.Ala1235=) single nucleotide variant not provided [RCV000928773] Chr7:107940045 [GRCh38]
Chr7:107580490 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4890T>C (p.Ile1630=) single nucleotide variant not provided [RCV000962297] Chr7:107926357 [GRCh38]
Chr7:107566802 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.351T>C (p.Gly117=) single nucleotide variant not provided [RCV000976183] Chr7:107994959 [GRCh38]
Chr7:107635404 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1764C>T (p.Phe588=) single nucleotide variant not provided [RCV000907445] Chr7:107962998 [GRCh38]
Chr7:107603443 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.261G>A (p.Glu87=) single nucleotide variant not provided [RCV000886345] Chr7:107998445 [GRCh38]
Chr7:107638890 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3687G>A (p.Glu1229=) single nucleotide variant not provided [RCV000943191] Chr7:107940063 [GRCh38]
Chr7:107580508 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4040A>C (p.Glu1347Ala) single nucleotide variant not provided [RCV000916712] Chr7:107935563 [GRCh38]
Chr7:107576008 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4362C>T (p.Ala1454=) single nucleotide variant not provided [RCV000943384] Chr7:107932204 [GRCh38]
Chr7:107572649 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2270A>C (p.Asn757Thr) single nucleotide variant not provided [RCV001665282] Chr7:107960489 [GRCh38]
Chr7:107600934 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4277G>C (p.Gly1426Ala) single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV001249836]|Inborn genetic diseases [RCV002570405] Chr7:107932289 [GRCh38]
Chr7:107572734 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4133T>A (p.Leu1378His) single nucleotide variant not specified [RCV001169849] Chr7:107935470 [GRCh38]
Chr7:107575915 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3630T>C (p.Ser1210=) single nucleotide variant not provided [RCV000911301] Chr7:107940120 [GRCh38]
Chr7:107580565 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3377A>G (p.Asp1126Gly) single nucleotide variant not provided [RCV000890899] Chr7:107951240 [GRCh38]
Chr7:107591685 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.5225-8C>A single nucleotide variant not provided [RCV000890938] Chr7:107924095 [GRCh38]
Chr7:107564540 [GRCh37]
Chr7:7q31.1		 likely benign|conflicting interpretations of pathogenicity
NM_002291.3(LAMB1):c.680T>C (p.Leu227Ser) single nucleotide variant not provided [RCV000891059] Chr7:107980808 [GRCh38]
Chr7:107621253 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1447C>T (p.Arg483Cys) single nucleotide variant not provided [RCV000889439] Chr7:107975021 [GRCh38]
Chr7:107615466 [GRCh37]
Chr7:7q31.1		 likely benign|conflicting interpretations of pathogenicity
NM_002291.3(LAMB1):c.3946+257G>A single nucleotide variant not provided [RCV001561817] Chr7:107936836 [GRCh38]
Chr7:107577281 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1001-219T>C single nucleotide variant not provided [RCV001562070] Chr7:107976096 [GRCh38]
Chr7:107616541 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1482+226A>T single nucleotide variant not provided [RCV001562248] Chr7:107974760 [GRCh38]
Chr7:107615205 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.5065-149T>C single nucleotide variant not provided [RCV001620920] Chr7:107924538 [GRCh38]
Chr7:107564983 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1482+146T>C single nucleotide variant not provided [RCV001567442] Chr7:107974840 [GRCh38]
Chr7:107615285 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.677-32C>G single nucleotide variant not provided [RCV001563160] Chr7:107980843 [GRCh38]
Chr7:107621288 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.5064+270dup duplication not provided [RCV001595461] Chr7:107925898..107925899 [GRCh38]
Chr7:107566343..107566344 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2314+303C>T single nucleotide variant not provided [RCV001558243] Chr7:107960142 [GRCh38]
Chr7:107600587 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1482+129A>G single nucleotide variant not provided [RCV001558391] Chr7:107974857 [GRCh38]
Chr7:107615302 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1857+196_1857+197del deletion not provided [RCV001688771] Chr7:107962708..107962709 [GRCh38]
Chr7:107603153..107603154 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.677-62dup duplication not provided [RCV001677665] Chr7:107980860..107980861 [GRCh38]
Chr7:107621305..107621306 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3079+235A>G single nucleotide variant not provided [RCV001558835] Chr7:107953295 [GRCh38]
Chr7:107593740 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1986-73G>C single nucleotide variant not provided [RCV001593818] Chr7:107961402 [GRCh38]
Chr7:107601847 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1563-150C>T single nucleotide variant not provided [RCV001719445] Chr7:107964837 [GRCh38]
Chr7:107605282 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.37+171G>A single nucleotide variant not provided [RCV001586739] Chr7:108002678 [GRCh38]
Chr7:107643123 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.5064+282_5064+284del deletion not provided [RCV001553290] Chr7:107925899..107925901 [GRCh38]
Chr7:107566344..107566346 [GRCh37]
Chr7:7q31.1		 likely benign
Single allele single nucleotide variant not provided [RCV001560058] Chr7:108003310 [GRCh38]
Chr7:107643755 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1985+41T>A single nucleotide variant not provided [RCV001586772] Chr7:107961508 [GRCh38]
Chr7:107601953 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2036C>T (p.Thr679Met) single nucleotide variant not provided [RCV001553380] Chr7:107961279 [GRCh38]
Chr7:107601724 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2315-162G>A single nucleotide variant not provided [RCV001560557] Chr7:107959996 [GRCh38]
Chr7:107600441 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.*30A>C single nucleotide variant not provided [RCV001720547] Chr7:107923921 [GRCh38]
Chr7:107564366 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3946+89del deletion not provided [RCV001720543] Chr7:107937004 [GRCh38]
Chr7:107577449 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4188+40G>A single nucleotide variant not provided [RCV001720545] Chr7:107935375 [GRCh38]
Chr7:107575820 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4188+61A>C single nucleotide variant not provided [RCV001720833] Chr7:107935354 [GRCh38]
Chr7:107575799 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1857+205G>C single nucleotide variant not provided [RCV001722992] Chr7:107962700 [GRCh38]
Chr7:107603145 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3294+51C>T single nucleotide variant not provided [RCV001528046] Chr7:107951958 [GRCh38]
Chr7:107592403 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3391+255G>T single nucleotide variant not provided [RCV001564834] Chr7:107950971 [GRCh38]
Chr7:107591416 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3295-149G>A single nucleotide variant not provided [RCV001639250] Chr7:107951471 [GRCh38]
Chr7:107591916 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4188+72_4188+75del deletion not provided [RCV001675304] Chr7:107935340..107935343 [GRCh38]
Chr7:107575785..107575788 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4746-48T>A single nucleotide variant not provided [RCV001678565] Chr7:107929253 [GRCh38]
Chr7:107569698 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2691-272A>C single nucleotide variant not provided [RCV001587973] Chr7:107955902 [GRCh38]
Chr7:107596347 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3294+256T>C single nucleotide variant not provided [RCV001637858] Chr7:107951753 [GRCh38]
Chr7:107592198 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.3079+330A>G single nucleotide variant not provided [RCV001565387] Chr7:107953200 [GRCh38]
Chr7:107593645 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.5065-191A>C single nucleotide variant not provided [RCV001594785] Chr7:107924580 [GRCh38]
Chr7:107565025 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1001-43A>G single nucleotide variant not provided [RCV001592161] Chr7:107975920 [GRCh38]
Chr7:107616365 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4188+41C>A single nucleotide variant not provided [RCV001598970] Chr7:107935374 [GRCh38]
Chr7:107575819 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2951C>T (p.Thr984Met) single nucleotide variant not provided [RCV001093481] Chr7:107953658 [GRCh38]
Chr7:107594103 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3299C>T (p.Thr1100Met) single nucleotide variant not provided [RCV001171868] Chr7:107951318 [GRCh38]
Chr7:107591763 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3761+331G>A single nucleotide variant not provided [RCV001651749] Chr7:107939658 [GRCh38]
Chr7:107580103 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.213+270G>A single nucleotide variant not provided [RCV001530906] Chr7:108001288 [GRCh38]
Chr7:107641733 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.359A>G (p.Asn120Ser) single nucleotide variant not provided [RCV001532599] Chr7:107994951 [GRCh38]
Chr7:107635396 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3946+82A>G single nucleotide variant not provided [RCV001609680] Chr7:107937011 [GRCh38]
Chr7:107577456 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1563-172T>A single nucleotide variant not provided [RCV001666941] Chr7:107964859 [GRCh38]
Chr7:107605304 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.5064+269_5064+271del deletion not provided [RCV001649039] Chr7:107925912..107925914 [GRCh38]
Chr7:107566357..107566359 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4887+275C>T single nucleotide variant not provided [RCV001533891] Chr7:107928789 [GRCh38]
Chr7:107569234 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.37+56A>G single nucleotide variant not provided [RCV001586896] Chr7:108002793 [GRCh38]
Chr7:107643238 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4393-203T>C single nucleotide variant not provided [RCV001714387] Chr7:107931703 [GRCh38]
Chr7:107572148 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.880-246C>T single nucleotide variant not provided [RCV001616573] Chr7:107978413 [GRCh38]
Chr7:107618858 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.2854+180T>C single nucleotide variant not provided [RCV001588197] Chr7:107955287 [GRCh38]
Chr7:107595732 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4648C>T (p.Arg1550Ter) single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV001197031]|not provided [RCV001876280] Chr7:107929509 [GRCh38]
Chr7:107569954 [GRCh37]
Chr7:7q31.1		 pathogenic|uncertain significance
NM_002291.3(LAMB1):c.3894T>C (p.Thr1298_Val1299=) single nucleotide variant not provided [RCV003106779] Chr7:107937145 [GRCh38]
Chr7:107577590 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2315-28A>G single nucleotide variant Intellectual disability [RCV001261378] Chr7:107959862 [GRCh38]
Chr7:107600307 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3422C>T (p.Thr1141Met) single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV001255792]|Inborn genetic diseases [RCV002570595]|not provided [RCV002570596] Chr7:107940328 [GRCh38]
Chr7:107580773 [GRCh37]
Chr7:7q31.1		 likely benign|uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_002291.3(LAMB1):c.5002del (p.Glu1668fs) deletion Intellectual disability [RCV001261377] Chr7:107926245 [GRCh38]
Chr7:107566690 [GRCh37]
Chr7:7q31.1		 likely pathogenic
NM_002291.3(LAMB1):c.214-136A>G single nucleotide variant not provided [RCV001539997] Chr7:107998628 [GRCh38]
Chr7:107639073 [GRCh37]
Chr7:7q31.1		 likely benign
Single allele single nucleotide variant not provided [RCV001536606] Chr7:108003321 [GRCh38]
Chr7:107643766 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1858-105G>C single nucleotide variant not provided [RCV001581409] Chr7:107961781 [GRCh38]
Chr7:107602226 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3796C>T (p.Gln1266Ter) single nucleotide variant Lissencephaly 5 [RCV001335010] Chr7:107937243 [GRCh38]
Chr7:107577688 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.2402G>A (p.Arg801Lys) single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV001330709] Chr7:107959747 [GRCh38]
Chr7:107600192 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4859T>C (p.Ile1620Thr) single nucleotide variant not provided [RCV001296013] Chr7:107929092 [GRCh38]
Chr7:107569537 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.144del (p.Lys49fs) deletion Autism spectrum disorder [RCV001291373] Chr7:108001627 [GRCh38]
Chr7:107642072 [GRCh37]
Chr7:7q31.1		 association
NM_002291.3(LAMB1):c.38-28C>A single nucleotide variant not provided [RCV001581663] Chr7:108001761 [GRCh38]
Chr7:107642206 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1189C>T (p.Arg397Ter) single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV002479463]|not provided [RCV001964589] Chr7:107975689 [GRCh38]
Chr7:107616134 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.2092T>A (p.Tyr698Asn) single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV001330708] Chr7:107961223 [GRCh38]
Chr7:107601668 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1481T>G (p.Leu494Arg) single nucleotide variant not provided [RCV001343086] Chr7:107974987 [GRCh38]
Chr7:107615432 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4349A>G (p.Asp1450Gly) single nucleotide variant not provided [RCV001321299] Chr7:107932217 [GRCh38]
Chr7:107572662 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4188G>C (p.Met1396Ile) single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV001330710] Chr7:107935415 [GRCh38]
Chr7:107575860 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4964T>C (p.Val1655Ala) single nucleotide variant not provided [RCV001528648] Chr7:107926283 [GRCh38]
Chr7:107566728 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.259G>A (p.Glu87Lys) single nucleotide variant not provided [RCV001532600] Chr7:107998447 [GRCh38]
Chr7:107638892 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4746-3C>A single nucleotide variant not provided [RCV001590661] Chr7:107929208 [GRCh38]
Chr7:107569653 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5064+270_5064+271dup duplication not provided [RCV001674027] Chr7:107925898..107925899 [GRCh38]
Chr7:107566343..107566344 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1698+121T>C single nucleotide variant not provided [RCV001582205] Chr7:107964431 [GRCh38]
Chr7:107604876 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3079+170del deletion not provided [RCV001609255] Chr7:107953360 [GRCh38]
Chr7:107593805 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1563-150del deletion not provided [RCV001587670] Chr7:107964837 [GRCh38]
Chr7:107605282 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1857+57T>C single nucleotide variant not provided [RCV001591454] Chr7:107962848 [GRCh38]
Chr7:107603293 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1858-193G>C single nucleotide variant not provided [RCV001655024] Chr7:107961869 [GRCh38]
Chr7:107602314 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.1857+68A>C single nucleotide variant not provided [RCV001592418] Chr7:107962837 [GRCh38]
Chr7:107603282 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.5064+107del deletion not provided [RCV001583512] Chr7:107926076 [GRCh38]
Chr7:107566521 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3946+270del deletion not provided [RCV001690389] Chr7:107936823 [GRCh38]
Chr7:107577268 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4888-1G>T single nucleotide variant not provided [RCV001378160] Chr7:107926360 [GRCh38]
Chr7:107566805 [GRCh37]
Chr7:7q31.1		 likely pathogenic
NM_002291.3(LAMB1):c.1168C>T (p.Arg390Ter) single nucleotide variant not provided [RCV001526677] Chr7:107975710 [GRCh38]
Chr7:107616155 [GRCh37]
Chr7:7q31.1		 likely pathogenic
NM_002291.3(LAMB1):c.949C>G (p.His317Asp) single nucleotide variant not provided [RCV003108810] Chr7:107978098 [GRCh38]
Chr7:107618543 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.666A>C (p.Pro222=) single nucleotide variant not provided [RCV001727423] Chr7:107986032 [GRCh38]
Chr7:107626477 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2779C>T (p.Arg927Cys) single nucleotide variant not provided [RCV001756248] Chr7:107955542 [GRCh38]
Chr7:107595987 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2712C>T (p.Gly904=) single nucleotide variant not provided [RCV001727422] Chr7:107955609 [GRCh38]
Chr7:107596054 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.860A>G (p.Asn287Ser) single nucleotide variant not provided [RCV001756791] Chr7:107980628 [GRCh38]
Chr7:107621073 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4888-7C>T single nucleotide variant not provided [RCV002086029] Chr7:107926366 [GRCh38]
Chr7:107566811 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1752_1756dup (p.Ala586fs) duplication Cobblestone lissencephaly without muscular or ocular involvement [RCV001783543] Chr7:107963005..107963006 [GRCh38]
Chr7:107603450..107603451 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.4188+1G>C single nucleotide variant not provided [RCV003104499] Chr7:107935414 [GRCh38]
Chr7:107575859 [GRCh37]
Chr7:7q31.1		 likely pathogenic
NM_002291.3(LAMB1):c.3233G>C (p.Gly1078Ala) single nucleotide variant not provided [RCV001758725] Chr7:107952070 [GRCh38]
Chr7:107592515 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2534G>T (p.Gly845Val) single nucleotide variant not provided [RCV001772395] Chr7:107959405 [GRCh38]
Chr7:107599850 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4733C>A (p.Ala1578Asp) single nucleotide variant not provided [RCV001772931] Chr7:107929424 [GRCh38]
Chr7:107569869 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.414G>A (p.Met138Ile) single nucleotide variant not provided [RCV001774632] Chr7:107994896 [GRCh38]
Chr7:107635341 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4189A>G (p.Thr1397Ala) single nucleotide variant Inborn genetic diseases [RCV002538789]|not provided [RCV001768884] Chr7:107932377 [GRCh38]
Chr7:107572822 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4727AAG[1] (p.Glu1577del) microsatellite not provided [RCV001773891] Chr7:107929425..107929427 [GRCh38]
Chr7:107569870..107569872 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1708A>G (p.Ile570Val) single nucleotide variant not provided [RCV001769289] Chr7:107963054 [GRCh38]
Chr7:107603499 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3700C>G (p.Leu1234Val) single nucleotide variant not provided [RCV001769457] Chr7:107940050 [GRCh38]
Chr7:107580495 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2896C>A (p.Pro966Thr) single nucleotide variant not provided [RCV001757220] Chr7:107953713 [GRCh38]
Chr7:107594158 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2964A>T (p.Glu988Asp) single nucleotide variant not provided [RCV001774326] Chr7:107953645 [GRCh38]
Chr7:107594090 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5147G>A (p.Arg1716Lys) single nucleotide variant not provided [RCV001765599] Chr7:107924307 [GRCh38]
Chr7:107564752 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1864G>A (p.Asp622Asn) single nucleotide variant not provided [RCV001769009] Chr7:107961670 [GRCh38]
Chr7:107602115 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.145A>G (p.Lys49Glu) single nucleotide variant not provided [RCV001774560] Chr7:108001626 [GRCh38]
Chr7:107642071 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2126A>G (p.Tyr709Cys) single nucleotide variant not provided [RCV001774680] Chr7:107960633 [GRCh38]
Chr7:107601078 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3532C>A (p.Pro1178Thr) single nucleotide variant not provided [RCV001758523] Chr7:107940218 [GRCh38]
Chr7:107580663 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3553C>T (p.Leu1185Phe) single nucleotide variant not provided [RCV001763347] Chr7:107940197 [GRCh38]
Chr7:107580642 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4310C>G (p.Ala1437Gly) single nucleotide variant not provided [RCV001757246] Chr7:107932256 [GRCh38]
Chr7:107572701 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1792G>C (p.Glu598Gln) single nucleotide variant not specified [RCV001817479] Chr7:107962970 [GRCh38]
Chr7:107603415 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3834C>T (p.Ser1278=) single nucleotide variant not specified [RCV001817509] Chr7:107937205 [GRCh38]
Chr7:107577650 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.835G>A (p.Glu279Lys) single nucleotide variant not provided [RCV001758324] Chr7:107980653 [GRCh38]
Chr7:107621098 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3813A>C (p.Leu1271Phe) single nucleotide variant not provided [RCV001758755] Chr7:107937226 [GRCh38]
Chr7:107577671 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3294G>A (p.Glu1098=) single nucleotide variant not provided [RCV001758079] Chr7:107952009 [GRCh38]
Chr7:107592454 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2682C>T (p.Asn894=) single nucleotide variant not specified [RCV001819360] Chr7:107959257 [GRCh38]
Chr7:107599702 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2411A>G (p.Asn804Ser) single nucleotide variant Inborn genetic diseases [RCV002573400]|not provided [RCV001971220] Chr7:107959738 [GRCh38]
Chr7:107600183 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5272G>T (p.Ala1758Ser) single nucleotide variant not provided [RCV001929729] Chr7:107924040 [GRCh38]
Chr7:107564485 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1421C>T (p.Ser474Phe) single nucleotide variant not provided [RCV001874329] Chr7:107975047 [GRCh38]
Chr7:107615492 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2339C>T (p.Ser780Leu) single nucleotide variant not provided [RCV001950634] Chr7:107959810 [GRCh38]
Chr7:107600255 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4088G>A (p.Arg1363Gln) single nucleotide variant not provided [RCV001873859] Chr7:107935515 [GRCh38]
Chr7:107575960 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5188_5189del (p.Leu1730fs) deletion not provided [RCV001930022] Chr7:107924265..107924266 [GRCh38]
Chr7:107564710..107564711 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3687G>C (p.Glu1229Asp) single nucleotide variant not provided [RCV001896416] Chr7:107940063 [GRCh38]
Chr7:107580508 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1937C>T (p.Thr646Ile) single nucleotide variant not provided [RCV001986005] Chr7:107961597 [GRCh38]
Chr7:107602042 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3728T>G (p.Leu1243Arg) single nucleotide variant not provided [RCV001949885] Chr7:107940022 [GRCh38]
Chr7:107580467 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4946G>A (p.Ser1649Asn) single nucleotide variant not provided [RCV002005743] Chr7:107926301 [GRCh38]
Chr7:107566746 [GRCh37]
Chr7:7q31.1		 uncertain significance
GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308) copy number loss not specified [RCV002053711] Chr7:99417471..111586308 [GRCh37]
Chr7:7q22.1-31.1		 pathogenic
NM_002291.3(LAMB1):c.2744G>A (p.Arg915His) single nucleotide variant not provided [RCV002009016] Chr7:107955577 [GRCh38]
Chr7:107596022 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3391+4A>C single nucleotide variant not provided [RCV001950160] Chr7:107951222 [GRCh38]
Chr7:107591667 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1915A>G (p.Thr639Ala) single nucleotide variant not provided [RCV001892699] Chr7:107961619 [GRCh38]
Chr7:107602064 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1515T>A (p.Asp505Glu) single nucleotide variant not provided [RCV001965939] Chr7:107973039 [GRCh38]
Chr7:107613484 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2915C>T (p.Ser972Leu) single nucleotide variant Inborn genetic diseases [RCV002554155]|not provided [RCV001892942] Chr7:107953694 [GRCh38]
Chr7:107594139 [GRCh37]
Chr7:7q31.1		 likely benign|uncertain significance
NM_002291.3(LAMB1):c.2234G>A (p.Ser745Asn) single nucleotide variant not provided [RCV002006482] Chr7:107960525 [GRCh38]
Chr7:107600970 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3470T>C (p.Val1157Ala) single nucleotide variant not provided [RCV001909453] Chr7:107940280 [GRCh38]
Chr7:107580725 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1730A>C (p.Gln577Pro) single nucleotide variant Inborn genetic diseases [RCV002608092]|not provided [RCV001984183] Chr7:107963032 [GRCh38]
Chr7:107603477 [GRCh37]
Chr7:7q31.1		 uncertain significance
GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489) copy number gain not specified [RCV002053715] Chr7:106984287..128949489 [GRCh37]
Chr7:7q22.3-32.1		 pathogenic
NM_002291.3(LAMB1):c.4507C>G (p.Leu1503Val) single nucleotide variant not provided [RCV002003293] Chr7:107931386 [GRCh38]
Chr7:107571831 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5069T>C (p.Leu1690Ser) single nucleotide variant not provided [RCV001968055] Chr7:107924385 [GRCh38]
Chr7:107564830 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1201G>A (p.Asp401Asn) single nucleotide variant not provided [RCV002007765] Chr7:107975402 [GRCh38]
Chr7:107615847 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1594C>T (p.Arg532Trp) single nucleotide variant Inborn genetic diseases [RCV002552867]|not provided [RCV001892650] Chr7:107964656 [GRCh38]
Chr7:107605101 [GRCh37]
Chr7:7q31.1		 uncertain significance
GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160) copy number loss not specified [RCV002053712] Chr7:100676872..119156160 [GRCh37]
Chr7:7q22.1-31.31		 pathogenic
NM_002291.3(LAMB1):c.3737T>C (p.Ile1246Thr) single nucleotide variant Inborn genetic diseases [RCV002548955]|not provided [RCV002043907] Chr7:107940013 [GRCh38]
Chr7:107580458 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1990G>A (p.Val664Ile) single nucleotide variant not provided [RCV001927818] Chr7:107961325 [GRCh38]
Chr7:107601770 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3574G>A (p.Glu1192Lys) single nucleotide variant not provided [RCV001948897] Chr7:107940176 [GRCh38]
Chr7:107580621 [GRCh37]
Chr7:7q31.1		 uncertain significance
NC_000007.13:g.107603505del deletion not provided [RCV001949322] Chr7:107963060 [GRCh38]
Chr7:107603505 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.4597A>C (p.Met1533Leu) single nucleotide variant not provided [RCV002044472] Chr7:107929560 [GRCh38]
Chr7:107570005 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1769G>A (p.Arg590Gln) single nucleotide variant Inborn genetic diseases [RCV002547998]|not provided [RCV001872497] Chr7:107962993 [GRCh38]
Chr7:107603438 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1561A>G (p.Ser521Gly) single nucleotide variant not provided [RCV001872154] Chr7:107972993 [GRCh38]
Chr7:107613438 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2577G>C (p.Trp859Cys) single nucleotide variant not provided [RCV001908189] Chr7:107959362 [GRCh38]
Chr7:107599807 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1000+2dup duplication not provided [RCV002002826] Chr7:107978044..107978045 [GRCh38]
Chr7:107618489..107618490 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4745+17C>T single nucleotide variant not provided [RCV001890661] Chr7:107929395 [GRCh38]
Chr7:107569840 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1279C>T (p.Arg427Trp) single nucleotide variant not provided [RCV001982711] Chr7:107975324 [GRCh38]
Chr7:107615769 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1313A>G (p.Asp438Gly) single nucleotide variant not provided [RCV002036998] Chr7:107975290 [GRCh38]
Chr7:107615735 [GRCh37]
Chr7:7q31.1		 uncertain significance
NC_000007.13:g.(?_107635312)_(107635425_?)del deletion not provided [RCV001958874] Chr7:107635312..107635425 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.1389G>A (p.Leu463=) single nucleotide variant not provided [RCV002030807] Chr7:107975079 [GRCh38]
Chr7:107615524 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3199C>T (p.Arg1067Cys) single nucleotide variant not provided [RCV001991145] Chr7:107952104 [GRCh38]
Chr7:107592549 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5227T>A (p.Leu1743Ile) single nucleotide variant not provided [RCV001995436] Chr7:107924085 [GRCh38]
Chr7:107564530 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2489A>G (p.Asn830Ser) single nucleotide variant not provided [RCV001959939] Chr7:107959450 [GRCh38]
Chr7:107599895 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1613G>A (p.Arg538His) single nucleotide variant not provided [RCV001883171] Chr7:107964637 [GRCh38]
Chr7:107605082 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1612C>T (p.Arg538Cys) single nucleotide variant not provided [RCV002037298] Chr7:107964638 [GRCh38]
Chr7:107605083 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1648G>A (p.Ala550Thr) single nucleotide variant not provided [RCV001943538] Chr7:107964602 [GRCh38]
Chr7:107605047 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4642C>A (p.Arg1548Ser) single nucleotide variant not provided [RCV001940468] Chr7:107929515 [GRCh38]
Chr7:107569960 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5182del (p.Thr1728fs) deletion not provided [RCV002038805] Chr7:107924272 [GRCh38]
Chr7:107564717 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4916A>C (p.Glu1639Ala) single nucleotide variant not provided [RCV001937509] Chr7:107926331 [GRCh38]
Chr7:107566776 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5041C>G (p.Gln1681Glu) single nucleotide variant Inborn genetic diseases [RCV002571368]|not provided [RCV001977913] Chr7:107926206 [GRCh38]
Chr7:107566651 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1993G>A (p.Val665Ile) single nucleotide variant not provided [RCV001951746] Chr7:107961322 [GRCh38]
Chr7:107601767 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1729C>T (p.Gln577Ter) single nucleotide variant not provided [RCV001882953] Chr7:107963033 [GRCh38]
Chr7:107603478 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.2951C>G (p.Thr984Arg) single nucleotide variant not provided [RCV001881649] Chr7:107953658 [GRCh38]
Chr7:107594103 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3895G>A (p.Val1299Met) single nucleotide variant not provided [RCV001878947] Chr7:107937144 [GRCh38]
Chr7:107577589 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2713G>A (p.Asp905Asn) single nucleotide variant not provided [RCV001975476] Chr7:107955608 [GRCh38]
Chr7:107596053 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5093A>G (p.Tyr1698Cys) single nucleotide variant not provided [RCV002010652] Chr7:107924361 [GRCh38]
Chr7:107564806 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4337A>G (p.Asp1446Gly) single nucleotide variant not provided [RCV001921904] Chr7:107932229 [GRCh38]
Chr7:107572674 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3206C>T (p.Ala1069Val) single nucleotide variant Inborn genetic diseases [RCV002558419]|not provided [RCV001916870] Chr7:107952097 [GRCh38]
Chr7:107592542 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4177G>A (p.Ala1393Thr) single nucleotide variant Inborn genetic diseases [RCV002641995]|not provided [RCV001991472] Chr7:107935426 [GRCh38]
Chr7:107575871 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1595G>A (p.Arg532Gln) single nucleotide variant Inborn genetic diseases [RCV002555275]|not provided [RCV001932795] Chr7:107964655 [GRCh38]
Chr7:107605100 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4537+4A>C single nucleotide variant not provided [RCV001915619] Chr7:107931352 [GRCh38]
Chr7:107571797 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2601C>G (p.Cys867Trp) single nucleotide variant not provided [RCV002015798] Chr7:107959338 [GRCh38]
Chr7:107599783 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2223G>T (p.Glu741Asp) single nucleotide variant not provided [RCV001922012] Chr7:107960536 [GRCh38]
Chr7:107600981 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3992C>G (p.Ala1331Gly) single nucleotide variant not provided [RCV001875423] Chr7:107935611 [GRCh38]
Chr7:107576056 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5045G>A (p.Ser1682Asn) single nucleotide variant Inborn genetic diseases [RCV002545835]|not provided [RCV001867037] Chr7:107926202 [GRCh38]
Chr7:107566647 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2443C>A (p.Pro815Thr) single nucleotide variant not provided [RCV001989554] Chr7:107959706 [GRCh38]
Chr7:107600151 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5198C>G (p.Ala1733Gly) single nucleotide variant not provided [RCV001883717] Chr7:107924256 [GRCh38]
Chr7:107564701 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.148C>A (p.Leu50Ile) single nucleotide variant not provided [RCV001877599] Chr7:108001623 [GRCh38]
Chr7:107642068 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3200G>A (p.Arg1067His) single nucleotide variant not provided [RCV001961586] Chr7:107952103 [GRCh38]
Chr7:107592548 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3227C>T (p.Ala1076Val) single nucleotide variant not provided [RCV001876450] Chr7:107952076 [GRCh38]
Chr7:107592521 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5341G>A (p.Val1781Met) single nucleotide variant not provided [RCV001919404] Chr7:107923971 [GRCh38]
Chr7:107564416 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1359T>G (p.Phe453Leu) single nucleotide variant not provided [RCV001959241] Chr7:107975244 [GRCh38]
Chr7:107615689 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4237G>A (p.Gly1413Arg) single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV002471193]|not provided [RCV001982303] Chr7:107932329 [GRCh38]
Chr7:107572774 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1898G>A (p.Arg633Gln) single nucleotide variant Inborn genetic diseases [RCV002554303]|not provided [RCV001922718] Chr7:107961636 [GRCh38]
Chr7:107602081 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4432A>G (p.Ser1478Gly) single nucleotide variant not provided [RCV001931699] Chr7:107931461 [GRCh38]
Chr7:107571906 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2603A>T (p.Gln868Leu) single nucleotide variant not provided [RCV001919724] Chr7:107959336 [GRCh38]
Chr7:107599781 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1624G>A (p.Glu542Lys) single nucleotide variant Inborn genetic diseases [RCV002552830]|not provided [RCV001897323] Chr7:107964626 [GRCh38]
Chr7:107605071 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4257C>T (p.Asp1419=) single nucleotide variant not provided [RCV001993117] Chr7:107932309 [GRCh38]
Chr7:107572754 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4505A>G (p.Asn1502Ser) single nucleotide variant not provided [RCV002032298] Chr7:107931388 [GRCh38]
Chr7:107571833 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1710A>G (p.Ile570Met) single nucleotide variant not provided [RCV002033404] Chr7:107963052 [GRCh38]
Chr7:107603497 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1900C>A (p.Pro634Thr) single nucleotide variant not provided [RCV001870353] Chr7:107961634 [GRCh38]
Chr7:107602079 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2735A>T (p.Asp912Val) single nucleotide variant not provided [RCV001935648] Chr7:107955586 [GRCh38]
Chr7:107596031 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4638T>C (p.Asp1546=) single nucleotide variant not provided [RCV002036310] Chr7:107929519 [GRCh38]
Chr7:107569964 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3695A>G (p.Asp1232Gly) single nucleotide variant not provided [RCV002017877] Chr7:107940055 [GRCh38]
Chr7:107580500 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.924C>G (p.Asn308Lys) single nucleotide variant not provided [RCV001924033] Chr7:107978123 [GRCh38]
Chr7:107618568 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1168C>G (p.Arg390Gly) single nucleotide variant not provided [RCV001906178] Chr7:107975710 [GRCh38]
Chr7:107616155 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3715G>A (p.Ala1239Thr) single nucleotide variant not provided [RCV001961056] Chr7:107940035 [GRCh38]
Chr7:107580480 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1898G>C (p.Arg633Pro) single nucleotide variant Inborn genetic diseases [RCV002551096]|not provided [RCV001877274] Chr7:107961636 [GRCh38]
Chr7:107602081 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5305C>T (p.Arg1769Cys) single nucleotide variant Inborn genetic diseases [RCV002625398]|not provided [RCV001992050] Chr7:107924007 [GRCh38]
Chr7:107564452 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3569T>C (p.Ile1190Thr) single nucleotide variant not provided [RCV001875610] Chr7:107940181 [GRCh38]
Chr7:107580626 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2315-14C>T single nucleotide variant not provided [RCV002187719] Chr7:107959848 [GRCh38]
Chr7:107600293 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2854+8G>A single nucleotide variant not provided [RCV002185438] Chr7:107955459 [GRCh38]
Chr7:107595904 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2727G>T (p.Gly909=) single nucleotide variant not provided [RCV002107624] Chr7:107955594 [GRCh38]
Chr7:107596039 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2694C>T (p.Cys898=) single nucleotide variant not provided [RCV002191073] Chr7:107955627 [GRCh38]
Chr7:107596072 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.350-14T>A single nucleotide variant not provided [RCV002126392] Chr7:107994974 [GRCh38]
Chr7:107635419 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2184C>T (p.Asn728=) single nucleotide variant not provided [RCV002192293] Chr7:107960575 [GRCh38]
Chr7:107601020 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2314+16C>T single nucleotide variant not provided [RCV002206089] Chr7:107960429 [GRCh38]
Chr7:107600874 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1694G>A (p.Gly565Glu) single nucleotide variant Cobblestone lissencephaly without muscular or ocular involvement [RCV002244110]|not provided [RCV003101314] Chr7:107964556 [GRCh38]
Chr7:107605001 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3606G>A (p.Glu1202=) single nucleotide variant not provided [RCV002089596] Chr7:107940144 [GRCh38]
Chr7:107580589 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1194T>C (p.Cys398=) single nucleotide variant not provided [RCV002111964] Chr7:107975409 [GRCh38]
Chr7:107615854 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3391+8G>A single nucleotide variant not provided [RCV002153676] Chr7:107951218 [GRCh38]
Chr7:107591663 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3123C>T (p.Asn1041=) single nucleotide variant not provided [RCV002131425] Chr7:107952180 [GRCh38]
Chr7:107592625 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1985+11C>T single nucleotide variant not provided [RCV002189261] Chr7:107961538 [GRCh38]
Chr7:107601983 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4812G>A (p.Lys1604=) single nucleotide variant not provided [RCV002215995] Chr7:107929139 [GRCh38]
Chr7:107569584 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3391+14G>A single nucleotide variant not provided [RCV002148640] Chr7:107951212 [GRCh38]
Chr7:107591657 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1985+12G>T single nucleotide variant not provided [RCV002151852] Chr7:107961537 [GRCh38]
Chr7:107601982 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2556T>C (p.Asp852=) single nucleotide variant not provided [RCV002208353] Chr7:107959383 [GRCh38]
Chr7:107599828 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1985+12G>C single nucleotide variant not provided [RCV002133603] Chr7:107961537 [GRCh38]
Chr7:107601982 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4538-16T>A single nucleotide variant not provided [RCV002087530] Chr7:107929635 [GRCh38]
Chr7:107570080 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3391+13C>T single nucleotide variant not provided [RCV002194482] Chr7:107951213 [GRCh38]
Chr7:107591658 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2691-20C>A single nucleotide variant not provided [RCV002172162] Chr7:107955650 [GRCh38]
Chr7:107596095 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4392+16G>A single nucleotide variant not provided [RCV002099566] Chr7:107932158 [GRCh38]
Chr7:107572603 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4888-15T>C single nucleotide variant not provided [RCV002121024] Chr7:107926374 [GRCh38]
Chr7:107566819 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.111C>A (p.Pro37=) single nucleotide variant not provided [RCV002159835] Chr7:108001660 [GRCh38]
Chr7:107642105 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3295-4G>A single nucleotide variant not provided [RCV002141415] Chr7:107951326 [GRCh38]
Chr7:107591771 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1001-4G>A single nucleotide variant not provided [RCV002142207] Chr7:107975881 [GRCh38]
Chr7:107616326 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1671T>C (p.Tyr557=) single nucleotide variant not provided [RCV002103519] Chr7:107964579 [GRCh38]
Chr7:107605024 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.5065-5T>C single nucleotide variant not provided [RCV002157043] Chr7:107924394 [GRCh38]
Chr7:107564839 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1563-8C>T single nucleotide variant not provided [RCV002199765] Chr7:107964695 [GRCh38]
Chr7:107605140 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4392+12G>A single nucleotide variant not provided [RCV002121568] Chr7:107932162 [GRCh38]
Chr7:107572607 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1001-11T>C single nucleotide variant not provided [RCV002121681] Chr7:107975888 [GRCh38]
Chr7:107616333 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2907T>A (p.Val969=) single nucleotide variant not provided [RCV002102352] Chr7:107953702 [GRCh38]
Chr7:107594147 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2040G>A (p.Val680=) single nucleotide variant not provided [RCV002139870] Chr7:107961275 [GRCh38]
Chr7:107601720 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4188+17T>G single nucleotide variant not provided [RCV002123531] Chr7:107935398 [GRCh38]
Chr7:107575843 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4188+15T>G single nucleotide variant not provided [RCV002123532] Chr7:107935400 [GRCh38]
Chr7:107575845 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4821C>T (p.Val1607=) single nucleotide variant not provided [RCV002101262] Chr7:107929130 [GRCh38]
Chr7:107569575 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2505C>T (p.Pro835=) single nucleotide variant not provided [RCV002139350] Chr7:107959434 [GRCh38]
Chr7:107599879 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2619C>T (p.Ala873=) single nucleotide variant not provided [RCV002154220] Chr7:107959320 [GRCh38]
Chr7:107599765 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.138A>G (p.Arg46=) single nucleotide variant not provided [RCV002176645] Chr7:108001633 [GRCh38]
Chr7:107642078 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.5225-9_5225-8insTATA insertion not provided [RCV002204234] Chr7:107924095..107924096 [GRCh38]
Chr7:107564540..107564541 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4537+15C>A single nucleotide variant not provided [RCV002124183] Chr7:107931341 [GRCh38]
Chr7:107571786 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.5225-22AT[3] microsatellite not provided [RCV002144642] Chr7:107924098..107924103 [GRCh38]
Chr7:107564543..107564548 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2236G>A (p.Val746Ile) single nucleotide variant not provided [RCV003115816] Chr7:107960523 [GRCh38]
Chr7:107600968 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3277G>A (p.Gly1093Arg) single nucleotide variant not provided [RCV003115309] Chr7:107952026 [GRCh38]
Chr7:107592471 [GRCh37]
Chr7:7q31.1		 uncertain significance
NC_000007.13:g.(?_102937907)_(107643330_?)dup duplication not provided [RCV003113939] Chr7:102937907..107643330 [GRCh37]
Chr7:7q22.1-31.1		 uncertain significance
NM_002291.3(LAMB1):c.4978C>T (p.Arg1660Trp) single nucleotide variant not provided [RCV003117873] Chr7:107926269 [GRCh38]
Chr7:107566714 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4282C>T (p.Pro1428Ser) single nucleotide variant not provided [RCV003121225] Chr7:107932284 [GRCh38]
Chr7:107572729 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4746-2A>C single nucleotide variant not provided [RCV002275698] Chr7:107929207 [GRCh38]
Chr7:107569652 [GRCh37]
Chr7:7q31.1		 not provided
NM_002291.3(LAMB1):c.4363_4376del (p.Leu1455fs) deletion Cobblestone lissencephaly without muscular or ocular involvement [RCV002276508] Chr7:107932190..107932203 [GRCh38]
Chr7:107572635..107572648 [GRCh37]
Chr7:7q31.1		 likely pathogenic
NM_002291.3(LAMB1):c.1974_1975dup (p.Pro659fs) duplication Cobblestone lissencephaly without muscular or ocular involvement [RCV002276509] Chr7:107961558..107961559 [GRCh38]
Chr7:107602003..107602004 [GRCh37]
Chr7:7q31.1		 likely pathogenic
NM_002291.3(LAMB1):c.2743C>T (p.Arg915Cys) single nucleotide variant not provided [RCV002287020] Chr7:107955578 [GRCh38]
Chr7:107596023 [GRCh37]
Chr7:7q31.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_002291.3(LAMB1):c.1946A>G (p.Asp649Gly) single nucleotide variant not provided [RCV002297361] Chr7:107961588 [GRCh38]
Chr7:107602033 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1403G>A (p.Gly468Glu) single nucleotide variant not provided [RCV002297609] Chr7:107975065 [GRCh38]
Chr7:107615510 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3087C>T (p.Val1029_Cys1030=) single nucleotide variant not provided [RCV002613736] Chr7:107952216 [GRCh38]
Chr7:107592661 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3435C>G (p.Asp1145Glu) single nucleotide variant not provided [RCV002303546] Chr7:107940315 [GRCh38]
Chr7:107580760 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1846T>C (p.Tyr616His) single nucleotide variant not provided [RCV002301319] Chr7:107962916 [GRCh38]
Chr7:107603361 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1942C>T (p.Pro648Ser) single nucleotide variant not provided [RCV002299064] Chr7:107961592 [GRCh38]
Chr7:107602037 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4427A>C (p.Lys1476Thr) single nucleotide variant not provided [RCV002686277] Chr7:107931466 [GRCh38]
Chr7:107571911 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1702G>T (p.Val568Phe) single nucleotide variant not provided [RCV003032951] Chr7:107963060 [GRCh38]
Chr7:107603505 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2780G>A (p.Arg927His) single nucleotide variant not provided [RCV002617306] Chr7:107955541 [GRCh38]
Chr7:107595986 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4802A>G (p.Glu1601Gly) single nucleotide variant not provided [RCV002462694] Chr7:107929149 [GRCh38]
Chr7:107569594 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4133T>C (p.Leu1378Pro) single nucleotide variant Inborn genetic diseases [RCV002860959] Chr7:107935470 [GRCh38]
Chr7:107575915 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2390A>T (p.Asn797Ile) single nucleotide variant not provided [RCV002727106] Chr7:107959759 [GRCh38]
Chr7:107600204 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4393-8A>G single nucleotide variant not provided [RCV002904148] Chr7:107931508 [GRCh38]
Chr7:107571953 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.373C>G (p.Leu125Val) single nucleotide variant Inborn genetic diseases [RCV002883958] Chr7:107994937 [GRCh38]
Chr7:107635382 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4782G>C (p.Met1594Ile) single nucleotide variant not provided [RCV003035248] Chr7:107929169 [GRCh38]
Chr7:107569614 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5087A>G (p.Glu1696Gly) single nucleotide variant Inborn genetic diseases [RCV002902638] Chr7:107924367 [GRCh38]
Chr7:107564812 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.556G>A (p.Asp186Asn) single nucleotide variant Inborn genetic diseases [RCV002883784] Chr7:107986231 [GRCh38]
Chr7:107626676 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1862C>G (p.Pro621Arg) single nucleotide variant Inborn genetic diseases [RCV002733071] Chr7:107961672 [GRCh38]
Chr7:107602117 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2916G>A (p.Ser972_Cys973=) single nucleotide variant not provided [RCV002618280] Chr7:107953693 [GRCh38]
Chr7:107594138 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2854G>A (p.Gly952Ser) single nucleotide variant not provided [RCV002838821] Chr7:107955467 [GRCh38]
Chr7:107595912 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3440C>T (p.Ser1147Phe) single nucleotide variant not provided [RCV002971811] Chr7:107940310 [GRCh38]
Chr7:107580755 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.663C>A (p.Ser221Arg) single nucleotide variant Inborn genetic diseases [RCV002817603] Chr7:107986035 [GRCh38]
Chr7:107626480 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4538-13T>C single nucleotide variant not provided [RCV002842339] Chr7:107929632 [GRCh38]
Chr7:107570077 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3791T>C (p.Met1264Thr) single nucleotide variant not provided [RCV003014699] Chr7:107937248 [GRCh38]
Chr7:107577693 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1563-15C>A single nucleotide variant not provided [RCV003012117] Chr7:107964702 [GRCh38]
Chr7:107605147 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2534G>A (p.Gly845Glu) single nucleotide variant Inborn genetic diseases [RCV002731732] Chr7:107959405 [GRCh38]
Chr7:107599850 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3497C>T (p.Thr1166Met) single nucleotide variant not provided [RCV002615496] Chr7:107940253 [GRCh38]
Chr7:107580698 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1196C>T (p.Thr399Met) single nucleotide variant not provided [RCV002751188] Chr7:107975407 [GRCh38]
Chr7:107615852 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5225-14A>C single nucleotide variant not provided [RCV002776083] Chr7:107924101 [GRCh38]
Chr7:107564546 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4217G>T (p.Cys1406Phe) single nucleotide variant not provided [RCV002839478] Chr7:107932349 [GRCh38]
Chr7:107572794 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4189-17_4189-12del deletion not provided [RCV003034584] Chr7:107932389..107932394 [GRCh38]
Chr7:107572834..107572839 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5034T>G (p.Thr1678_Val1679=) single nucleotide variant not provided [RCV002996686] Chr7:107926213 [GRCh38]
Chr7:107566658 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.841G>A (p.Ala281Thr) single nucleotide variant not provided [RCV003016971] Chr7:107980647 [GRCh38]
Chr7:107621092 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2295G>A (p.Leu765_Leu766=) single nucleotide variant not provided [RCV002617729] Chr7:107960464 [GRCh38]
Chr7:107600909 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4703T>C (p.Ile1568Thr) single nucleotide variant not provided [RCV002690264] Chr7:107929454 [GRCh38]
Chr7:107569899 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4173A>T (p.Ser1391_Ala1392=) single nucleotide variant not provided [RCV002842969] Chr7:107935430 [GRCh38]
Chr7:107575875 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2591G>T (p.Cys864Phe) single nucleotide variant not provided [RCV002509970] Chr7:107959348 [GRCh38]
Chr7:107599793 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2360C>A (p.Pro787His) single nucleotide variant not provided [RCV002731271] Chr7:107959789 [GRCh38]
Chr7:107600234 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5282T>G (p.Leu1761Ter) single nucleotide variant not provided [RCV002908344] Chr7:107924030 [GRCh38]
Chr7:107564475 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4861C>T (p.Gln1621Ter) single nucleotide variant not provided [RCV002996001] Chr7:107929090 [GRCh38]
Chr7:107569535 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.214-9T>C single nucleotide variant not provided [RCV002862519] Chr7:107998501 [GRCh38]
Chr7:107638946 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4932G>A (p.Ala1644_Ser1645=) single nucleotide variant not provided [RCV003080803] Chr7:107926315 [GRCh38]
Chr7:107566760 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2282G>C (p.Ser761Thr) single nucleotide variant not provided [RCV002740093] Chr7:107960477 [GRCh38]
Chr7:107600922 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.213+19G>C single nucleotide variant not provided [RCV003018833] Chr7:108001539 [GRCh38]
Chr7:107641984 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3221A>C (p.Gln1074Pro) single nucleotide variant Inborn genetic diseases [RCV002758409] Chr7:107952082 [GRCh38]
Chr7:107592527 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3019G>A (p.Glu1007Lys) single nucleotide variant not provided [RCV002735390] Chr7:107953590 [GRCh38]
Chr7:107594035 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3759A>G (p.Ala1253_Glu1254=) single nucleotide variant not provided [RCV002593419] Chr7:107939991 [GRCh38]
Chr7:107580436 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.5194C>G (p.Gln1732Glu) single nucleotide variant not provided [RCV002928147] Chr7:107924260 [GRCh38]
Chr7:107564705 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2003G>A (p.Arg668Gln) single nucleotide variant not provided [RCV003080003] Chr7:107961312 [GRCh38]
Chr7:107601757 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1045G>C (p.Ala349Pro) single nucleotide variant not provided [RCV002760760] Chr7:107975833 [GRCh38]
Chr7:107616278 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2248C>A (p.Pro750Thr) single nucleotide variant not provided [RCV003002168] Chr7:107960511 [GRCh38]
Chr7:107600956 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2098C>A (p.Leu700Met) single nucleotide variant not provided [RCV003002767] Chr7:107961217 [GRCh38]
Chr7:107601662 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1956C>T (p.Asn652_Gln653=) single nucleotide variant not provided [RCV002927699] Chr7:107961578 [GRCh38]
Chr7:107602023 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4301T>C (p.Val1434Ala) single nucleotide variant not provided [RCV002662327] Chr7:107932265 [GRCh38]
Chr7:107572710 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2129G>A (p.Cys710Tyr) single nucleotide variant Inborn genetic diseases [RCV002708236] Chr7:107960630 [GRCh38]
Chr7:107601075 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3847A>G (p.Lys1283Glu) single nucleotide variant not provided [RCV002800141] Chr7:107937192 [GRCh38]
Chr7:107577637 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4939C>T (p.Arg1647Cys) single nucleotide variant not provided [RCV002571020] Chr7:107926308 [GRCh38]
Chr7:107566753 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5245del (p.Asp1749fs) deletion not provided [RCV003018141] Chr7:107924067 [GRCh38]
Chr7:107564512 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4048G>T (p.Ala1350Ser) single nucleotide variant not provided [RCV003019458] Chr7:107935555 [GRCh38]
Chr7:107576000 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2628C>T (p.Cys876_Asp877=) single nucleotide variant not provided [RCV002795759] Chr7:107959311 [GRCh38]
Chr7:107599756 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4507C>T (p.Leu1503_Ile1504=) single nucleotide variant not provided [RCV002846718] Chr7:107931386 [GRCh38]
Chr7:107571831 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1563-20T>C single nucleotide variant not provided [RCV002847333] Chr7:107964707 [GRCh38]
Chr7:107605152 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1203C>A (p.Asp401Glu) single nucleotide variant not provided [RCV002949472] Chr7:107975400 [GRCh38]
Chr7:107615845 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3670G>A (p.Glu1224Lys) single nucleotide variant not provided [RCV002659169] Chr7:107940080 [GRCh38]
Chr7:107580525 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.805G>A (p.Gly269Arg) single nucleotide variant not provided [RCV002948504] Chr7:107980683 [GRCh38]
Chr7:107621128 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2356G>T (p.Asp786Tyr) single nucleotide variant Inborn genetic diseases [RCV002888482] Chr7:107959793 [GRCh38]
Chr7:107600238 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.546G>C (p.Met182Ile) single nucleotide variant Inborn genetic diseases [RCV002707088] Chr7:107986241 [GRCh38]
Chr7:107626686 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5224+2T>C single nucleotide variant not provided [RCV003001995] Chr7:107924228 [GRCh38]
Chr7:107564673 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3981G>A (p.Met1327Ile) single nucleotide variant not provided [RCV003080959] Chr7:107935622 [GRCh38]
Chr7:107576067 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3295-5C>T single nucleotide variant not provided [RCV002785420] Chr7:107951327 [GRCh38]
Chr7:107591772 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4920C>T (p.Thr1640_Leu1641=) single nucleotide variant not provided [RCV002923615] Chr7:107926327 [GRCh38]
Chr7:107566772 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2213G>C (p.Arg738Pro) single nucleotide variant not provided [RCV002695507] Chr7:107960546 [GRCh38]
Chr7:107600991 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2109+9G>A single nucleotide variant not provided [RCV002590377] Chr7:107961197 [GRCh38]
Chr7:107601642 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1410T>C (p.Asn470_Pro471=) single nucleotide variant not provided [RCV002848152] Chr7:107975058 [GRCh38]
Chr7:107615503 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1448G>A (p.Arg483His) single nucleotide variant Inborn genetic diseases [RCV002661494] Chr7:107975020 [GRCh38]
Chr7:107615465 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3714C>T (p.Pro1238_Ala1239=) single nucleotide variant not provided [RCV002785292] Chr7:107940036 [GRCh38]
Chr7:107580481 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.5348G>A (p.Ser1783Asn) single nucleotide variant not provided [RCV002761064] Chr7:107923964 [GRCh38]
Chr7:107564409 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4393-5T>C single nucleotide variant not provided [RCV002695064] Chr7:107931505 [GRCh38]
Chr7:107571950 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2517G>A (p.Gln839_Cys840=) single nucleotide variant not provided [RCV003038515] Chr7:107959422 [GRCh38]
Chr7:107599867 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2501A>G (p.Asn834Ser) single nucleotide variant not provided [RCV002949322] Chr7:107959438 [GRCh38]
Chr7:107599883 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1115G>A (p.Arg372His) single nucleotide variant not provided [RCV002622008] Chr7:107975763 [GRCh38]
Chr7:107616208 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4477dup (p.Met1493fs) duplication not provided [RCV002847874] Chr7:107931415..107931416 [GRCh38]
Chr7:107571860..107571861 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.1292A>C (p.Asn431Thr) single nucleotide variant Inborn genetic diseases [RCV002888580] Chr7:107975311 [GRCh38]
Chr7:107615756 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.492A>G (p.Arg164_Tyr165=) single nucleotide variant not provided [RCV003038557] Chr7:107986295 [GRCh38]
Chr7:107626740 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.951T>C (p.His317_Asp318=) single nucleotide variant not provided [RCV002909652] Chr7:107978096 [GRCh38]
Chr7:107618541 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4585T>C (p.Leu1529_Lys1530=) single nucleotide variant not provided [RCV002592826] Chr7:107929572 [GRCh38]
Chr7:107570017 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.5163G>C (p.Met1721Ile) single nucleotide variant not provided [RCV003002479] Chr7:107924291 [GRCh38]
Chr7:107564736 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3312G>A (p.Gln1104_Cys1105=) single nucleotide variant not provided [RCV002894914] Chr7:107951305 [GRCh38]
Chr7:107591750 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2668A>G (p.Thr890Ala) single nucleotide variant Inborn genetic diseases [RCV002697869] Chr7:107959271 [GRCh38]
Chr7:107599716 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2617G>A (p.Ala873Thr) single nucleotide variant not provided [RCV002624141] Chr7:107959322 [GRCh38]
Chr7:107599767 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2272ATC[1] (p.Ile759del) microsatellite not provided [RCV002765727] Chr7:107960482..107960484 [GRCh38]
Chr7:107600927..107600929 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.213+18G>T single nucleotide variant not provided [RCV002711384] Chr7:108001540 [GRCh38]
Chr7:107641985 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1482+20G>A single nucleotide variant not provided [RCV002626796] Chr7:107974966 [GRCh38]
Chr7:107615411 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.458C>T (p.Ser153Leu) single nucleotide variant not provided [RCV003041980] Chr7:107986329 [GRCh38]
Chr7:107626774 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5309C>T (p.Ser1770Leu) single nucleotide variant not provided [RCV002627277] Chr7:107924003 [GRCh38]
Chr7:107564448 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4876C>T (p.Leu1626_Leu1627=) single nucleotide variant not provided [RCV002954387] Chr7:107929075 [GRCh38]
Chr7:107569520 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4189-12G>T single nucleotide variant not provided [RCV002642412] Chr7:107932389 [GRCh38]
Chr7:107572834 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4999G>A (p.Gly1667Arg) single nucleotide variant Inborn genetic diseases [RCV002664261]|not provided [RCV002651532] Chr7:107926248 [GRCh38]
Chr7:107566693 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1867C>T (p.His623Tyr) single nucleotide variant not provided [RCV002667992] Chr7:107961667 [GRCh38]
Chr7:107602112 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5187T>C (p.Leu1729_Leu1730=) single nucleotide variant not provided [RCV002745580] Chr7:107924267 [GRCh38]
Chr7:107564712 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.60C>T (p.Arg20_Ala21=) single nucleotide variant not provided [RCV002918743] Chr7:108001711 [GRCh38]
Chr7:107642156 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3173C>G (p.Pro1058Arg) single nucleotide variant not provided [RCV002623758] Chr7:107952130 [GRCh38]
Chr7:107592575 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1810A>T (p.Ile604Leu) single nucleotide variant Inborn genetic diseases [RCV003083818]|not provided [RCV003089337] Chr7:107962952 [GRCh38]
Chr7:107603397 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1242T>A (p.Tyr414Ter) single nucleotide variant not provided [RCV003006409] Chr7:107975361 [GRCh38]
Chr7:107615806 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.3708G>C (p.Gln1236His) single nucleotide variant not provided [RCV002829197] Chr7:107940042 [GRCh38]
Chr7:107580487 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3392-7C>T single nucleotide variant not provided [RCV003040840] Chr7:107940365 [GRCh38]
Chr7:107580810 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2064CTC[1] (p.Ser690del) microsatellite not provided [RCV003039697] Chr7:107961246..107961248 [GRCh38]
Chr7:107601691..107601693 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1698+9G>A single nucleotide variant not provided [RCV002914594] Chr7:107964543 [GRCh38]
Chr7:107604988 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1706G>C (p.Ser569Thr) single nucleotide variant Inborn genetic diseases [RCV002891382] Chr7:107963056 [GRCh38]
Chr7:107603501 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3276C>T (p.Phe1092_Gly1093=) single nucleotide variant not provided [RCV002643588] Chr7:107952027 [GRCh38]
Chr7:107592472 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4271A>C (p.Lys1424Thr) single nucleotide variant not provided [RCV002765892] Chr7:107932295 [GRCh38]
Chr7:107572740 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2620G>A (p.Asp874Asn) single nucleotide variant not provided [RCV002710467] Chr7:107959319 [GRCh38]
Chr7:107599764 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3295-20G>A single nucleotide variant not provided [RCV002982309] Chr7:107951342 [GRCh38]
Chr7:107591787 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3514G>T (p.Val1172Phe) single nucleotide variant not provided [RCV002666606] Chr7:107940236 [GRCh38]
Chr7:107580681 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5225-12_5225-7del deletion not provided [RCV002596118] Chr7:107924094..107924099 [GRCh38]
Chr7:107564539..107564544 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3292G>A (p.Glu1098Lys) single nucleotide variant not provided [RCV003025816] Chr7:107952011 [GRCh38]
Chr7:107592456 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1759G>A (p.Gly587Ser) single nucleotide variant Inborn genetic diseases [RCV002641133] Chr7:107963003 [GRCh38]
Chr7:107603448 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3773A>C (p.Lys1258Thr) single nucleotide variant Inborn genetic diseases [RCV003003802] Chr7:107937266 [GRCh38]
Chr7:107577711 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1330T>C (p.Phe444Leu) single nucleotide variant Inborn genetic diseases [RCV002930967] Chr7:107975273 [GRCh38]
Chr7:107615718 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2553T>C (p.Cys851_Asp852=) single nucleotide variant not provided [RCV002958149] Chr7:107959386 [GRCh38]
Chr7:107599831 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1443C>T (p.Cys481_Lys482=) single nucleotide variant not provided [RCV002830238] Chr7:107975025 [GRCh38]
Chr7:107615470 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2898A>G (p.Pro966_Ser967=) single nucleotide variant not provided [RCV002666691] Chr7:107953711 [GRCh38]
Chr7:107594156 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.5203A>G (p.Ser1735Gly) single nucleotide variant not provided [RCV003042555] Chr7:107924251 [GRCh38]
Chr7:107564696 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2118C>T (p.Leu706_Met707=) single nucleotide variant not provided [RCV002786315] Chr7:107960641 [GRCh38]
Chr7:107601086 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4061A>T (p.Asp1354Val) single nucleotide variant not provided [RCV002918638] Chr7:107935542 [GRCh38]
Chr7:107575987 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4198_4199delinsCA (p.Thr1400Gln) indel not provided [RCV003023926] Chr7:107932367..107932368 [GRCh38]
Chr7:107572812..107572813 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5006C>A (p.Ala1669Glu) single nucleotide variant Inborn genetic diseases [RCV002764625] Chr7:107926241 [GRCh38]
Chr7:107566686 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4201C>T (p.Pro1401Ser) single nucleotide variant not provided [RCV002937340] Chr7:107932365 [GRCh38]
Chr7:107572810 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1897C>T (p.Arg633Ter) single nucleotide variant not provided [RCV002600914] Chr7:107961637 [GRCh38]
Chr7:107602082 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.4631C>T (p.Thr1544Ile) single nucleotide variant Inborn genetic diseases [RCV002809765] Chr7:107929526 [GRCh38]
Chr7:107569971 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5157C>T (p.Ala1719_Glu1720=) single nucleotide variant not provided [RCV002941943] Chr7:107924297 [GRCh38]
Chr7:107564742 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.5314C>T (p.Leu1772_Lys1773=) single nucleotide variant not provided [RCV002598216] Chr7:107923998 [GRCh38]
Chr7:107564443 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4979G>A (p.Arg1660Gln) single nucleotide variant not provided [RCV002675526] Chr7:107926268 [GRCh38]
Chr7:107566713 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2633del (p.Pro878fs) deletion not provided [RCV003049161] Chr7:107959306 [GRCh38]
Chr7:107599751 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.3814T>A (p.Ser1272Thr) single nucleotide variant not provided [RCV002582010] Chr7:107937225 [GRCh38]
Chr7:107577670 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4274G>A (p.Cys1425Tyr) single nucleotide variant not provided [RCV002601220] Chr7:107932292 [GRCh38]
Chr7:107572737 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5336T>C (p.Val1779Ala) single nucleotide variant not provided [RCV002600699] Chr7:107923976 [GRCh38]
Chr7:107564421 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3684C>T (p.Ser1228_Glu1229=) single nucleotide variant not provided [RCV002602131] Chr7:107940066 [GRCh38]
Chr7:107580511 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3340T>A (p.Cys1114Ser) single nucleotide variant Inborn genetic diseases [RCV002940542] Chr7:107951277 [GRCh38]
Chr7:107591722 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1718G>A (p.Arg573Gln) single nucleotide variant not provided [RCV002746754] Chr7:107963044 [GRCh38]
Chr7:107603489 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1942C>A (p.Pro648Thr) single nucleotide variant not provided [RCV003044767] Chr7:107961592 [GRCh38]
Chr7:107602037 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1378T>G (p.Cys460Gly) single nucleotide variant not provided [RCV003010109] Chr7:107975090 [GRCh38]
Chr7:107615535 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2109+19C>G single nucleotide variant not provided [RCV002746562] Chr7:107961187 [GRCh38]
Chr7:107601632 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3559G>A (p.Asp1187Asn) single nucleotide variant not provided [RCV002714938] Chr7:107940191 [GRCh38]
Chr7:107580636 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.5225-22AT[7] microsatellite not provided [RCV002627828] Chr7:107924097..107924098 [GRCh38]
Chr7:107564542..107564543 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4718T>C (p.Met1573Thr) single nucleotide variant not provided [RCV002806659] Chr7:107929439 [GRCh38]
Chr7:107569884 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4434T>C (p.Ser1478_Ala1479=) single nucleotide variant not provided [RCV003086553] Chr7:107931459 [GRCh38]
Chr7:107571904 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2063C>A (p.Thr688Asn) single nucleotide variant not provided [RCV002857622] Chr7:107961252 [GRCh38]
Chr7:107601697 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.361G>A (p.Val121Ile) single nucleotide variant not provided [RCV002922068] Chr7:107994949 [GRCh38]
Chr7:107635394 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3944G>A (p.Arg1315Gln) single nucleotide variant not provided [RCV002962672] Chr7:107937095 [GRCh38]
Chr7:107577540 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.350-7_350-5del deletion not provided [RCV002966384] Chr7:107994965..107994967 [GRCh38]
Chr7:107635410..107635412 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4958G>C (p.Arg1653Thr) single nucleotide variant not provided [RCV002717092] Chr7:107926289 [GRCh38]
Chr7:107566734 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.176A>G (p.His59Arg) single nucleotide variant not provided [RCV003009714] Chr7:108001595 [GRCh38]
Chr7:107642040 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1986-4G>A single nucleotide variant not provided [RCV003086758] Chr7:107961333 [GRCh38]
Chr7:107601778 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3212A>G (p.Asn1071Ser) single nucleotide variant not provided [RCV002937888] Chr7:107952091 [GRCh38]
Chr7:107592536 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3295-6C>A single nucleotide variant not provided [RCV003063320] Chr7:107951328 [GRCh38]
Chr7:107591773 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.839G>A (p.Cys280Tyr) single nucleotide variant not provided [RCV002812088] Chr7:107980649 [GRCh38]
Chr7:107621094 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1676C>T (p.Ala559Val) single nucleotide variant not provided [RCV002720964] Chr7:107964574 [GRCh38]
Chr7:107605019 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.448A>G (p.Ile150Val) single nucleotide variant Inborn genetic diseases [RCV002669402] Chr7:107986339 [GRCh38]
Chr7:107626784 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.213+1del deletion not provided [RCV002877588] Chr7:108001557 [GRCh38]
Chr7:107642002 [GRCh37]
Chr7:7q31.1		 pathogenic
NM_002291.3(LAMB1):c.1255A>G (p.Thr419Ala) single nucleotide variant not provided [RCV002631097] Chr7:107975348 [GRCh38]
Chr7:107615793 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2079C>T (p.Asp693_Val694=) single nucleotide variant not provided [RCV002581409] Chr7:107961236 [GRCh38]
Chr7:107601681 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2824C>A (p.Leu942Ile) single nucleotide variant Inborn genetic diseases [RCV002962700]|not provided [RCV002962701] Chr7:107955497 [GRCh38]
Chr7:107595942 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2113G>A (p.Val705Ile) single nucleotide variant Inborn genetic diseases [RCV002812290] Chr7:107960646 [GRCh38]
Chr7:107601091 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2006C>T (p.Pro669Leu) single nucleotide variant not provided [RCV002962010] Chr7:107961309 [GRCh38]
Chr7:107601754 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1562G>C (p.Ser521Thr) single nucleotide variant not provided [RCV002966351] Chr7:107972992 [GRCh38]
Chr7:107613437 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4607C>T (p.Thr1536Ile) single nucleotide variant Inborn genetic diseases [RCV002718775] Chr7:107929550 [GRCh38]
Chr7:107569995 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1662C>G (p.His554Gln) single nucleotide variant not provided [RCV002671901] Chr7:107964588 [GRCh38]
Chr7:107605033 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2485G>C (p.Val829Leu) single nucleotide variant not provided [RCV003063718] Chr7:107959454 [GRCh38]
Chr7:107599899 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2054C>T (p.Pro685Leu) single nucleotide variant not provided [RCV003063719] Chr7:107961261 [GRCh38]
Chr7:107601706 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.350-14dup duplication not provided [RCV002597422] Chr7:107994973..107994974 [GRCh38]
Chr7:107635418..107635419 [GRCh37]
Chr7:7q31.1		 benign
NM_002291.3(LAMB1):c.4381C>T (p.Leu1461Phe) single nucleotide variant not provided [RCV003051221] Chr7:107932185 [GRCh38]
Chr7:107572630 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.879+18G>A single nucleotide variant not provided [RCV002681025] Chr7:107980591 [GRCh38]
Chr7:107621036 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4114GAG[1] (p.Glu1373del) microsatellite not provided [RCV003066288] Chr7:107935484..107935486 [GRCh38]
Chr7:107575929..107575931 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1758C>G (p.Ala586_Gly587=) single nucleotide variant not provided [RCV002605521] Chr7:107963004 [GRCh38]
Chr7:107603449 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3107T>G (p.Val1036Gly) single nucleotide variant not provided [RCV002585643] Chr7:107952196 [GRCh38]
Chr7:107592641 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1953C>G (p.Asp651Glu) single nucleotide variant not provided [RCV002605055] Chr7:107961581 [GRCh38]
Chr7:107602026 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2813T>C (p.Val938Ala) single nucleotide variant not provided [RCV002603853] Chr7:107955508 [GRCh38]
Chr7:107595953 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2110-15C>A single nucleotide variant not provided [RCV002604378] Chr7:107960664 [GRCh38]
Chr7:107601109 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.1648G>C (p.Ala550Pro) single nucleotide variant not provided [RCV002654523] Chr7:107964602 [GRCh38]
Chr7:107605047 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3024C>T (p.His1008_Cys1009=) single nucleotide variant not provided [RCV002584613] Chr7:107953585 [GRCh38]
Chr7:107594030 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.38-7C>T single nucleotide variant not provided [RCV002676712] Chr7:108001740 [GRCh38]
Chr7:107642185 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4969G>A (p.Glu1657Lys) single nucleotide variant not provided [RCV003092286] Chr7:107926278 [GRCh38]
Chr7:107566723 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1837C>G (p.Leu613Val) single nucleotide variant not provided [RCV002654002] Chr7:107962925 [GRCh38]
Chr7:107603370 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2372AGTGCC[3] (p.Cys794_Arg795insGlnCys) microsatellite not provided [RCV002943666] Chr7:107959765..107959766 [GRCh38]
Chr7:107600210..107600211 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3408C>T (p.Pro1136_Arg1137=) single nucleotide variant not provided [RCV002609864] Chr7:107940342 [GRCh38]
Chr7:107580787 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.973G>A (p.Glu325Lys) single nucleotide variant not provided [RCV002721764] Chr7:107978074 [GRCh38]
Chr7:107618519 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1963G>A (p.Val655Met) single nucleotide variant not provided [RCV002607715] Chr7:107961571 [GRCh38]
Chr7:107602016 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3704C>T (p.Ala1235Val) single nucleotide variant not provided [RCV002608793] Chr7:107940046 [GRCh38]
Chr7:107580491 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2541T>C (p.Tyr847_Ala848=) single nucleotide variant not provided [RCV002590045] Chr7:107959398 [GRCh38]
Chr7:107599843 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2250G>A (p.Pro750_Met751=) single nucleotide variant not provided [RCV002606109] Chr7:107960509 [GRCh38]
Chr7:107600954 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.423+3A>G single nucleotide variant not provided [RCV002585427] Chr7:107994884 [GRCh38]
Chr7:107635329 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.3403G>A (p.Asp1135Asn) single nucleotide variant not provided [RCV002610654] Chr7:107940347 [GRCh38]
Chr7:107580792 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1985+8T>G single nucleotide variant not provided [RCV002586474] Chr7:107961541 [GRCh38]
Chr7:107601986 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3105C>T (p.Thr1035_Val1036=) single nucleotide variant not provided [RCV002613157] Chr7:107952198 [GRCh38]
Chr7:107592643 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2458+20T>C single nucleotide variant not provided [RCV002634851] Chr7:107959671 [GRCh38]
Chr7:107600116 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4998C>T (p.Ser1666_Gly1667=) single nucleotide variant not provided [RCV002611531] Chr7:107926249 [GRCh38]
Chr7:107566694 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3331G>C (p.Gly1111Arg) single nucleotide variant not provided [RCV002582906] Chr7:107951286 [GRCh38]
Chr7:107591731 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.4642C>T (p.Arg1548Cys) single nucleotide variant not provided [RCV002611532] Chr7:107929515 [GRCh38]
Chr7:107569960 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.4773T>G (p.Thr1591_Ala1592=) single nucleotide variant not provided [RCV002589299] Chr7:107929178 [GRCh38]
Chr7:107569623 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.3290A>G (p.Asn1097Ser) single nucleotide variant not provided [RCV003050371] Chr7:107952013 [GRCh38]
Chr7:107592458 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.2501A>C (p.Asn834Thr) single nucleotide variant not provided [RCV002584287] Chr7:107959438 [GRCh38]
Chr7:107599883 [GRCh37]
Chr7:7q31.1		 uncertain significance
NM_002291.3(LAMB1):c.1551C>T (p.Ala517_Leu518=) single nucleotide variant not provided [RCV002587520] Chr7:107973003 [GRCh38]
Chr7:107613448 [GRCh37]
Chr7:7q31.1		 likely benign
NM_002291.3(LAMB1):c.2171G>C (p.Gly724Ala) single nucleotide variant not provided [RCV002606696] Chr7:107960588 [GRCh38]
Chr7:107601033 [GRCh37]
Chr7:7q31.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1351
Count of miRNA genes:743
Interacting mature miRNAs:862
Transcripts:ENST00000222399, ENST00000393559, ENST00000393560, ENST00000393561, ENST00000439976, ENST00000468518, ENST00000468999, ENST00000470995, ENST00000472714, ENST00000474380, ENST00000476039, ENST00000479448, ENST00000491196
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
STS-H01470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,574,610 - 107,574,772UniSTSGRCh37
Build 367107,361,846 - 107,362,008RGDNCBI36
Celera7102,381,593 - 102,381,755RGD
Cytogenetic Map7q22UniSTS
HuRef7101,937,052 - 101,937,214UniSTS
CRA_TCAGchr7v27106,935,735 - 106,935,897UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
STS-R09502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,564,314 - 107,564,435UniSTSGRCh37
Build 367107,351,550 - 107,351,671RGDNCBI36
Celera7102,371,301 - 102,371,422RGD
Cytogenetic Map7q22UniSTS
HuRef7101,926,758 - 101,926,879UniSTS
CRA_TCAGchr7v27106,925,443 - 106,925,564UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
RH80938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,566,811 - 107,567,025UniSTSGRCh37
Build 367107,354,047 - 107,354,261RGDNCBI36
Celera7102,373,798 - 102,374,012RGD
Cytogenetic Map7q22UniSTS
HuRef7101,929,257 - 101,929,471UniSTS
CRA_TCAGchr7v27106,927,940 - 106,928,154UniSTS
RH80344  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,564,318 - 107,564,409UniSTSGRCh37
Build 367107,351,554 - 107,351,645RGDNCBI36
Celera7102,371,305 - 102,371,396RGD
Cytogenetic Map7q22UniSTS
HuRef7101,926,762 - 101,926,853UniSTS
CRA_TCAGchr7v27106,925,447 - 106,925,538UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
RH102652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,565,984 - 107,566,155UniSTSGRCh37
Build 367107,353,220 - 107,353,391RGDNCBI36
Celera7102,372,971 - 102,373,142RGD
Cytogenetic Map7q22UniSTS
HuRef7101,928,428 - 101,928,599UniSTS
CRA_TCAGchr7v27106,927,113 - 106,927,284UniSTS
GeneMap99-GB4 RH Map7528.59UniSTS
RH104071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,571,060 - 107,571,139UniSTSGRCh37
Build 367107,358,296 - 107,358,375RGDNCBI36
Celera7102,378,043 - 102,378,122RGD
Cytogenetic Map7q22UniSTS
HuRef7101,933,502 - 101,933,581UniSTS
CRA_TCAGchr7v27106,932,185 - 106,932,264UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
LAMB1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,575,890 - 107,576,078UniSTSGRCh37
GRCh377107,600,989 - 107,601,081UniSTSGRCh37
Build 367107,363,126 - 107,363,314RGDNCBI36
Celera7102,382,857 - 102,383,045RGD
Celera7102,407,952 - 102,408,044UniSTS
Cytogenetic Map7q22UniSTS
HuRef7101,938,319 - 101,938,507UniSTS
HuRef7101,963,396 - 101,963,488UniSTS
CRA_TCAGchr7v27106,962,110 - 106,962,202UniSTS
CRA_TCAGchr7v27106,937,013 - 106,937,201UniSTS
SHGC-105537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,644,980 - 107,645,257UniSTSGRCh37
Build 367107,432,216 - 107,432,493RGDNCBI36
Celera7102,451,946 - 102,452,223RGD
Cytogenetic Map7q22UniSTS
HuRef7102,007,474 - 102,007,751UniSTS
CRA_TCAGchr7v27107,006,109 - 107,006,386UniSTS
TNG Radiation Hybrid Map747302.0UniSTS
SHGC-144048  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,590,724 - 107,590,854UniSTSGRCh37
Build 367107,377,960 - 107,378,090RGDNCBI36
Celera7102,397,690 - 102,397,820RGD
Cytogenetic Map7q22UniSTS
HuRef7101,953,134 - 101,953,264UniSTS
CRA_TCAGchr7v27106,951,847 - 106,951,977UniSTS
TNG Radiation Hybrid Map747270.0UniSTS
RH71457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,564,388 - 107,564,694UniSTSGRCh37
Build 367107,351,624 - 107,351,930RGDNCBI36
Celera7102,371,375 - 102,371,681RGD
Cytogenetic Map7q22UniSTS
HuRef7101,926,832 - 101,927,138UniSTS
CRA_TCAGchr7v27106,925,517 - 106,925,823UniSTS
GeneMap99-GB4 RH Map7526.64UniSTS
G36368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,643,479 - 107,643,640UniSTSGRCh37
Build 367107,430,715 - 107,430,876RGDNCBI36
Celera7102,450,445 - 102,450,606RGD
Cytogenetic Map7q22UniSTS
HuRef7102,005,973 - 102,006,134UniSTS
CRA_TCAGchr7v27107,004,607 - 107,004,769UniSTS
D7S2809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,591,894 - 107,592,043UniSTSGRCh37
Build 367107,379,130 - 107,379,279RGDNCBI36
Celera7102,398,858 - 102,399,007RGD
Cytogenetic Map7q22UniSTS
HuRef7101,954,302 - 101,954,451UniSTS
CRA_TCAGchr7v27106,953,015 - 106,953,164UniSTS
Whitehead-RH Map7482.9UniSTS
NCBI RH Map71089.7UniSTS
STS-N30158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,566,190 - 107,566,310UniSTSGRCh37
Build 367107,353,426 - 107,353,546RGDNCBI36
Celera7102,373,177 - 102,373,297RGD
Cytogenetic Map7q22UniSTS
HuRef7101,928,634 - 101,928,754UniSTS
CRA_TCAGchr7v27106,927,319 - 106,927,439UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
D7S3074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,591,310 - 107,591,496UniSTSGRCh37
Build 367107,378,546 - 107,378,732RGDNCBI36
Celera7102,398,276 - 102,398,460RGD
Cytogenetic Map7q22UniSTS
HuRef7101,953,720 - 101,953,904UniSTS
CRA_TCAGchr7v27106,952,433 - 106,952,617UniSTS
D7S777  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,596,745 - 107,596,867UniSTSGRCh37
Build 367107,383,981 - 107,384,103RGDNCBI36
Celera7102,403,708 - 102,403,830RGD
Cytogenetic Map7q22UniSTS
HuRef7101,959,152 - 101,959,274UniSTS
CRA_TCAGchr7v27106,957,866 - 106,957,988UniSTS
GDB:1317194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,633,505 - 107,633,581UniSTSGRCh37
Build 367107,420,741 - 107,420,817RGDNCBI36
Celera7102,440,467 - 102,440,543RGD
Cytogenetic Map7q22UniSTS
HuRef7101,995,995 - 101,996,071UniSTS
CRA_TCAGchr7v27106,994,629 - 106,994,705UniSTS
G36373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,613,737 - 107,613,856UniSTSGRCh37
Build 367107,400,973 - 107,401,092RGDNCBI36
Celera7102,420,700 - 102,420,819RGD
Cytogenetic Map7q22UniSTS
HuRef7101,976,143 - 101,976,262UniSTS
CRA_TCAGchr7v27106,974,858 - 106,974,977UniSTS
WI-19020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,564,274 - 107,564,462UniSTSGRCh37
Build 367107,351,510 - 107,351,698RGDNCBI36
Celera7102,371,261 - 102,371,449RGD
Cytogenetic Map7q22UniSTS
HuRef7101,926,718 - 101,926,906UniSTS
CRA_TCAGchr7v27106,925,403 - 106,925,591UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
Whitehead-RH Map7484.9UniSTS


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 1
Medium 2420 2195 1517 430 555 274 4032 1863 1901 417 1404 1577 169 1204 2465 4
Low 16 193 206 193 573 190 324 330 1778 2 53 35 4 1 323 2 1
Below cutoff 1 594 3 775 1 4 45 1 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA861108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M20206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M61916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000222399   ⟹   ENSP00000222399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 108,003,161 (-)Ensembl
RefSeq Acc Id: ENST00000393559   ⟹   ENSP00000377189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,998,398 - 108,003,160 (-)Ensembl
RefSeq Acc Id: ENST00000393560   ⟹   ENSP00000377190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,959,506 - 108,003,187 (-)Ensembl
RefSeq Acc Id: ENST00000393561   ⟹   ENSP00000377191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 108,002,140 (-)Ensembl
RefSeq Acc Id: ENST00000439976   ⟹   ENSP00000412686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,962,905 - 108,003,176 (-)Ensembl
RefSeq Acc Id: ENST00000468518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 107,934,799 (-)Ensembl
RefSeq Acc Id: ENST00000468999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 107,941,802 (-)Ensembl
RefSeq Acc Id: ENST00000470995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,935,374 - 107,937,163 (-)Ensembl
RefSeq Acc Id: ENST00000472714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 107,929,421 (-)Ensembl
RefSeq Acc Id: ENST00000474380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 107,940,564 (-)Ensembl
RefSeq Acc Id: ENST00000476039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,942,399 - 107,953,649 (-)Ensembl
RefSeq Acc Id: ENST00000479448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,951,101 - 107,952,090 (-)Ensembl
RefSeq Acc Id: ENST00000491196
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,935,359 - 107,937,318 (-)Ensembl
RefSeq Acc Id: ENST00000676574   ⟹   ENSP00000503081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 108,003,213 (-)Ensembl
RefSeq Acc Id: ENST00000676592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,929,022 - 107,929,792 (-)Ensembl
RefSeq Acc Id: ENST00000676744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 107,931,738 (-)Ensembl
RefSeq Acc Id: ENST00000676777   ⟹   ENSP00000504756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,928,857 - 108,003,161 (-)Ensembl
RefSeq Acc Id: ENST00000676920   ⟹   ENSP00000503814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,942,436 - 108,002,140 (-)Ensembl
RefSeq Acc Id: ENST00000677101   ⟹   ENSP00000503156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 108,003,203 (-)Ensembl
RefSeq Acc Id: ENST00000677144   ⟹   ENSP00000503049
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 108,003,213 (-)Ensembl
RefSeq Acc Id: ENST00000677485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 108,003,133 (-)Ensembl
RefSeq Acc Id: ENST00000677588   ⟹   ENSP00000502938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 108,003,213 (-)Ensembl
RefSeq Acc Id: ENST00000677652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,935,356 - 108,003,213 (-)Ensembl
RefSeq Acc Id: ENST00000677734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,958,293 - 108,003,213 (-)Ensembl
RefSeq Acc Id: ENST00000677793   ⟹   ENSP00000504020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 108,003,213 (-)Ensembl
RefSeq Acc Id: ENST00000677801   ⟹   ENSP00000503438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 108,002,140 (-)Ensembl
RefSeq Acc Id: ENST00000677883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,929,066 - 107,931,403 (-)Ensembl
RefSeq Acc Id: ENST00000677957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 107,928,645 (-)Ensembl
RefSeq Acc Id: ENST00000677994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,951,159 - 108,001,936 (-)Ensembl
RefSeq Acc Id: ENST00000678232
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,931,217 - 108,003,213 (-)Ensembl
RefSeq Acc Id: ENST00000678266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,950,623 - 108,002,125 (-)Ensembl
RefSeq Acc Id: ENST00000678310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 107,941,802 (-)Ensembl
RefSeq Acc Id: ENST00000678346   ⟹   ENSP00000504349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,935,374 - 108,003,191 (-)Ensembl
RefSeq Acc Id: ENST00000678698   ⟹   ENSP00000503198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 108,002,140 (-)Ensembl
RefSeq Acc Id: ENST00000678704   ⟹   ENSP00000504589
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 108,003,213 (-)Ensembl
RefSeq Acc Id: ENST00000678892   ⟹   ENSP00000504841
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 108,003,213 (-)Ensembl
RefSeq Acc Id: ENST00000678984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 107,928,349 (-)Ensembl
RefSeq Acc Id: ENST00000679173
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,935,392 - 108,003,213 (-)Ensembl
RefSeq Acc Id: ENST00000679200   ⟹   ENSP00000503498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,923,799 - 108,002,140 (-)Ensembl
RefSeq Acc Id: ENST00000679244   ⟹   ENSP00000504656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,942,436 - 108,003,213 (-)Ensembl
RefSeq Acc Id: NM_002291   ⟹   NP_002282
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,923,799 - 108,003,161 (-)NCBI
GRCh377107,564,244 - 107,643,804 (-)NCBI
Build 367107,351,499 - 107,431,040 (-)NCBI Archive
HuRef7101,926,690 - 102,006,298 (-)ENTREZGENE
CHM1_17107,497,967 - 107,577,516 (-)NCBI
T2T-CHM13v2.07109,241,996 - 109,321,407 (-)NCBI
CRA_TCAGchr7v27106,925,375 - 107,004,933 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_047420359   ⟹   XP_047276315
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,932,310 - 108,003,161 (-)NCBI
RefSeq Acc Id: XM_047420360   ⟹   XP_047276316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,942,431 - 108,003,161 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_002282   ⟸   NM_002291
- Peptide Label: precursor
- UniProtKB: Q14D91 (UniProtKB/Swiss-Prot),   P07942 (UniProtKB/Swiss-Prot),   Q8TAS6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000412686   ⟸   ENST00000439976
RefSeq Acc Id: ENSP00000377189   ⟸   ENST00000393559
RefSeq Acc Id: ENSP00000377191   ⟸   ENST00000393561
RefSeq Acc Id: ENSP00000377190   ⟸   ENST00000393560
RefSeq Acc Id: ENSP00000222399   ⟸   ENST00000222399
RefSeq Acc Id: ENSP00000503814   ⟸   ENST00000676920
RefSeq Acc Id: ENSP00000504756   ⟸   ENST00000676777
RefSeq Acc Id: ENSP00000503081   ⟸   ENST00000676574
RefSeq Acc Id: ENSP00000503049   ⟸   ENST00000677144
RefSeq Acc Id: ENSP00000503156   ⟸   ENST00000677101
RefSeq Acc Id: ENSP00000502938   ⟸   ENST00000677588
RefSeq Acc Id: ENSP00000503438   ⟸   ENST00000677801
RefSeq Acc Id: ENSP00000504020   ⟸   ENST00000677793
RefSeq Acc Id: ENSP00000504349   ⟸   ENST00000678346
RefSeq Acc Id: ENSP00000504841   ⟸   ENST00000678892
RefSeq Acc Id: ENSP00000504589   ⟸   ENST00000678704
RefSeq Acc Id: ENSP00000503198   ⟸   ENST00000678698
RefSeq Acc Id: ENSP00000504656   ⟸   ENST00000679244
RefSeq Acc Id: ENSP00000503498   ⟸   ENST00000679200
RefSeq Acc Id: XP_047276315   ⟸   XM_047420359
- Peptide Label: isoform X1
- UniProtKB: A0A7I2V2T9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276316   ⟸   XM_047420360
- Peptide Label: isoform X2
- UniProtKB: A0A7I2V5R0 (UniProtKB/TrEMBL)
Protein Domains
Laminin EGF-like   Laminin IV type B   Laminin N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07942-F1-model_v2 AlphaFold P07942 1-1786 view protein structure

Promoters
RGD ID:6805855
Promoter ID:HG_KWN:59240
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000314587
Position:
Human AssemblyChrPosition (strand)Source
Build 367107,356,801 - 107,357,337 (-)MPROMDB
RGD ID:6805858
Promoter ID:HG_KWN:59241
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000314596
Position:
Human AssemblyChrPosition (strand)Source
Build 367107,359,951 - 107,360,637 (-)MPROMDB
RGD ID:6805857
Promoter ID:HG_KWN:59243
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000314592
Position:
Human AssemblyChrPosition (strand)Source
Build 367107,368,701 - 107,369,201 (-)MPROMDB
RGD ID:6805505
Promoter ID:HG_KWN:59248
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000393559,   NM_002291,   OTTHUMT00000314588,   UC003VEX.2,   UC010LJN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367107,430,661 - 107,431,161 (-)MPROMDB
RGD ID:7211645
Promoter ID:EPDNEW_H11568
Type:initiation region
Name:LAMB1_1
Description:laminin subunit beta 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11569  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387108,003,158 - 108,003,218EPDNEW
RGD ID:7211649
Promoter ID:EPDNEW_H11569
Type:initiation region
Name:LAMB1_2
Description:laminin subunit beta 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11568  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387108,003,408 - 108,003,468EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6486 AgrOrtholog
COSMIC LAMB1 COSMIC
Ensembl Genes ENSG00000091136 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000222399 ENTREZGENE
  ENSP00000222399.6 UniProtKB/Swiss-Prot
  ENSP00000377189.2 UniProtKB/TrEMBL
  ENSP00000377190.1 UniProtKB/TrEMBL
  ENSP00000377191.2 UniProtKB/TrEMBL
  ENSP00000412686.2 UniProtKB/TrEMBL
  ENSP00000502938.1 UniProtKB/TrEMBL
  ENSP00000503049.1 UniProtKB/TrEMBL
  ENSP00000503081 ENTREZGENE
  ENSP00000503081.1 UniProtKB/TrEMBL
  ENSP00000503156.1 UniProtKB/TrEMBL
  ENSP00000503198.1 UniProtKB/TrEMBL
  ENSP00000503438.1 UniProtKB/TrEMBL
  ENSP00000503498.1 UniProtKB/TrEMBL
  ENSP00000503814.1 UniProtKB/TrEMBL
  ENSP00000504020.1 UniProtKB/TrEMBL
  ENSP00000504349.1 UniProtKB/TrEMBL
  ENSP00000504589.1 UniProtKB/TrEMBL
  ENSP00000504656 ENTREZGENE
  ENSP00000504656.1 UniProtKB/TrEMBL
  ENSP00000504756.1 UniProtKB/TrEMBL
  ENSP00000504841.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000222399 ENTREZGENE
  ENST00000222399.11 UniProtKB/Swiss-Prot
  ENST00000393559.2 UniProtKB/TrEMBL
  ENST00000393560.5 UniProtKB/TrEMBL
  ENST00000393561.6 UniProtKB/TrEMBL
  ENST00000439976.6 UniProtKB/TrEMBL
  ENST00000676574 ENTREZGENE
  ENST00000676574.1 UniProtKB/TrEMBL
  ENST00000676777.1 UniProtKB/TrEMBL
  ENST00000676920.1 UniProtKB/TrEMBL
  ENST00000677101.1 UniProtKB/TrEMBL
  ENST00000677144.1 UniProtKB/TrEMBL
  ENST00000677588.1 UniProtKB/TrEMBL
  ENST00000677793.1 UniProtKB/TrEMBL
  ENST00000677801.1 UniProtKB/TrEMBL
  ENST00000678346.1 UniProtKB/TrEMBL
  ENST00000678698.1 UniProtKB/TrEMBL
  ENST00000678704.1 UniProtKB/TrEMBL
  ENST00000678892.1 UniProtKB/TrEMBL
  ENST00000679200.1 UniProtKB/TrEMBL
  ENST00000679244 ENTREZGENE
  ENST00000679244.1 UniProtKB/TrEMBL
Gene3D-CATH Galactose-binding domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tie2 ligand-binding domain superfamily UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000091136 GTEx
HGNC ID HGNC:6486 ENTREZGENE
Human Proteome Map LAMB1 Human Proteome Map
InterPro EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_IV_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3912 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3912 ENTREZGENE
OMIM 150240 OMIM
PANTHER LAMININ SUBUNIT BETA-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS PROTEIN 9 UniProtKB/TrEMBL
  NETRIN/LAMININ-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USHERIN UniProtKB/TrEMBL
Pfam Laminin_EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30275 PharmGKB
PRINTS EGFLAMININ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EGF_1 UniProtKB/Swiss-Prot
  EGF_2 UniProtKB/Swiss-Prot
  EGF_LAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_LAM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAMININ_IVB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAMININ_NTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Lam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prefoldin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7I2V2J0_HUMAN UniProtKB/TrEMBL
  A0A7I2V2R2_HUMAN UniProtKB/TrEMBL
  A0A7I2V2T9 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V378_HUMAN UniProtKB/TrEMBL
  A0A7I2V3I5_HUMAN UniProtKB/TrEMBL
  A0A7I2V3J7_HUMAN UniProtKB/TrEMBL
  A0A7I2V407_HUMAN UniProtKB/TrEMBL
  A0A7I2V4J9_HUMAN UniProtKB/TrEMBL
  A0A7I2V5R0 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V5T9_HUMAN UniProtKB/TrEMBL
  A0A7I2V5X5_HUMAN UniProtKB/TrEMBL
  A0A7I2V682_HUMAN UniProtKB/TrEMBL
  C9J296_HUMAN UniProtKB/TrEMBL
  E7EPA6_HUMAN UniProtKB/TrEMBL
  E9PCS6_HUMAN UniProtKB/TrEMBL
  G3XAI2_HUMAN UniProtKB/TrEMBL
  L8E7Q3_HUMAN UniProtKB/TrEMBL
  LAMB1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14D91 ENTREZGENE
  Q75MC8_HUMAN UniProtKB/TrEMBL
  Q8TAS6 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q14D91 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-04 LAMB1  laminin subunit beta 1  CLM  cutis laxa with marfanoid phenotype  Data Merged 737654 PROVISIONAL
2015-12-01 LAMB1  laminin subunit beta 1    laminin, beta 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 LAMB1  laminin, beta 1  LAMB1  laminin, beta 1  Symbol and/or name change 5135510 APPROVED