LMBR1 (limb development membrane protein 1) - Rat Genome Database

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Gene: LMBR1 (limb development membrane protein 1) Homo sapiens
Analyze
Symbol: LMBR1
Name: limb development membrane protein 1
RGD ID: 1352056
HGNC Page HGNC:13243
Description: Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within embryonic digit morphogenesis. Predicted to be located in membrane. Predicted to be active in plasma membrane. Implicated in Laurin-Sandrow syndrome; acheiropody; and syndactyly type 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACHP; C7orf2; chromosome 7 open reading frame 2; DIF14; differentiation-related gene 14 protein; FLJ11665; limb region 1 homolog; limb region 1 protein homolog; LSS; PPD2; THYP; TPT; TPTPS; ZRS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387156,669,012 - 156,893,183 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7156,668,946 - 156,893,216 (-)EnsemblGRCh38hg38GRCh38
GRCh377156,461,706 - 156,685,877 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367156,166,331 - 156,378,663 (-)NCBINCBI36Build 36hg18NCBI36
Build 347155,975,109 - 156,185,317NCBI
Celera7150,900,771 - 151,113,109 (-)NCBICelera
Cytogenetic Map7q36.3NCBI
HuRef7150,206,410 - 150,418,614 (-)NCBIHuRef
CHM1_17156,482,285 - 156,694,637 (-)NCBICHM1_1
T2T-CHM13v2.07157,856,727 - 158,080,951 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27155,702,965 - 155,915,305 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
1-5 finger complete cutaneous syndactyly  (IAGP)
1-5 finger cutaneous syndactyly  (IAGP)
2-3 toe syndactyly  (IAGP)
6 metacarpals  (IAGP)
Abnormal epiphysis morphology  (IAGP)
Abnormal fibula morphology  (IAGP)
Abnormal metacarpal morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the nose  (IAGP)
Abnormality of the scaphoid  (IAGP)
Abnormality of the trapezium  (IAGP)
Abnormality of the wrist  (IAGP)
Absent forearm  (IAGP)
Absent hand  (IAGP)
Absent metatarsal bone  (IAGP)
Absent radius  (IAGP)
Absent tibia  (IAGP)
Absent toe  (IAGP)
Aplasia of metacarpal bones  (IAGP)
Aplasia of the 1st metacarpal  (IAGP)
Aplasia of the phalanges of the hand  (IAGP)
Aplasia of the tarsal bones  (IAGP)
Aplasia of the ulna  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Aplasia/Hypoplasia of the radius  (IAGP)
Aplasia/Hypoplasia of the thumb  (IAGP)
Aplasia/Hypoplasia of the tibia  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Broad foot  (IAGP)
Broad thumb  (IAGP)
Camptodactyly of finger  (IAGP)
Carpal bone aplasia  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Depressed nasal ridge  (IAGP)
Deviation of the hand or of fingers of the hand  (IAGP)
Downturned corners of mouth  (IAGP)
Fibular aplasia  (IAGP)
Fibular duplication  (IAGP)
Finger syndactyly  (IAGP)
Foot polydactyly  (IAGP)
Hand polydactyly  (IAGP)
Hydrocephalus  (IAGP)
Hypertelorism  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Limb duplication  (IAGP)
Limitation of joint mobility  (IAGP)
Lower limb peromelia  (IAGP)
Mirror image polydactyly  (IAGP)
Patellar aplasia  (IAGP)
Peromelia  (IAGP)
Polydactyly  (IAGP)
Postaxial hand polydactyly  (IAGP)
Postaxial polydactyly  (IAGP)
Preaxial foot polydactyly  (IAGP)
Preaxial hand polydactyly  (IAGP)
Prominent nose  (IAGP)
Short columella  (IAGP)
Short foot  (IAGP)
Short humerus  (IAGP)
Short stature  (IAGP)
Short tibia  (IAGP)
Supernumerary metacarpal bones  (IAGP)
Syndactyly  (IAGP)
Synostosis of carpal bones  (IAGP)
Talipes  (IAGP)
Tarsal synostosis  (IAGP)
Toe syndactyly  (IAGP)
Triphalangeal thumb  (IAGP)
Underdeveloped nasal alae  (IAGP)
Upper limb phocomelia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8533803   PMID:9847074   PMID:10329000   PMID:10945466   PMID:11076863   PMID:11090342   PMID:11333865   PMID:11606546   PMID:12032320   PMID:12477932   PMID:12491086   PMID:12690205  
PMID:12837695   PMID:12853948   PMID:14702039   PMID:14727139   PMID:15489334   PMID:15489336   PMID:16344560   PMID:16381901   PMID:17152067   PMID:17300748   PMID:18698406   PMID:19136951  
PMID:20068592   PMID:20379614   PMID:20446115   PMID:21873635   PMID:22495965   PMID:22786669   PMID:23793141   PMID:24478176   PMID:24623722   PMID:24777739   PMID:26186194   PMID:26749485  
PMID:28065597   PMID:28514442   PMID:28611215   PMID:28986522   PMID:31073040   PMID:31395945   PMID:32179704   PMID:32296183   PMID:32662247   PMID:32694731   PMID:32788342   PMID:33961781  
PMID:34079125   PMID:34186245   PMID:37314216   PMID:37609425   PMID:38070861   PMID:39190381  


Genomics

Comparative Map Data
LMBR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387156,669,012 - 156,893,183 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7156,668,946 - 156,893,216 (-)EnsemblGRCh38hg38GRCh38
GRCh377156,461,706 - 156,685,877 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367156,166,331 - 156,378,663 (-)NCBINCBI36Build 36hg18NCBI36
Build 347155,975,109 - 156,185,317NCBI
Celera7150,900,771 - 151,113,109 (-)NCBICelera
Cytogenetic Map7q36.3NCBI
HuRef7150,206,410 - 150,418,614 (-)NCBIHuRef
CHM1_17156,482,285 - 156,694,637 (-)NCBICHM1_1
T2T-CHM13v2.07157,856,727 - 158,080,951 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27155,702,965 - 155,915,305 (-)NCBI
Lmbr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39529,434,800 - 29,583,414 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl529,481,000 - 29,485,295 (-)EnsemblGRCm39 Ensembl
GRCm39 Ensembl529,434,800 - 29,583,388 (-)EnsemblGRCm39 Ensembl
GRCm38529,229,802 - 29,378,421 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl529,229,802 - 29,378,390 (-)EnsemblGRCm38mm10GRCm38
MGSCv37529,556,342 - 29,704,930 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36529,563,850 - 29,708,979 (-)NCBIMGSCv36mm8
Celera526,746,188 - 26,894,229 (-)NCBICelera
Cytogenetic Map5B1NCBI
cM Map514.81NCBI
Lmbr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr846,649,824 - 6,820,525 (+)NCBIGRCr8
mRatBN7.245,974,687 - 6,146,348 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl45,974,750 - 6,146,368 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx410,964,561 - 11,104,689 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.046,778,789 - 6,918,931 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.045,124,942 - 5,265,085 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.042,116,094 - 2,274,111 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl42,116,094 - 2,201,749 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.042,172,459 - 2,330,391 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.441,177,941 - 1,344,583 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera44,186,584 - 4,352,183 (-)NCBICelera
Cytogenetic Map4q11NCBI
Lmbr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554919,171,462 - 9,217,996 (-)NCBIChiLan1.0ChiLan1.0
LMBR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26193,126,963 - 193,338,373 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1745,138,039 - 45,348,637 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07148,301,263 - 148,512,407 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17159,995,236 - 160,151,025 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7159,999,389 - 160,152,858 (-)Ensemblpanpan1.1panPan2
LMBR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11619,295,235 - 19,442,390 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1619,296,149 - 19,442,369 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1619,926,402 - 20,073,017 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01621,024,102 - 21,171,034 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1621,025,016 - 21,171,045 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11619,393,417 - 19,539,921 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01619,975,284 - 20,122,102 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01620,027,644 - 20,174,745 (-)NCBIUU_Cfam_GSD_1.0
Lmbr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244051181,986,679 - 2,145,004 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936797745,845 - 868,632 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936797745,851 - 873,388 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LMBR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl181,795,497 - 1,934,947 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1181,795,462 - 1,934,951 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2181,941,562 - 1,997,710 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LMBR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121124,819,580 - 125,032,058 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21124,819,887 - 124,981,008 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607221,034,422 - 21,261,773 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lmbr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248001,494,192 - 1,648,978 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248001,494,183 - 1,648,978 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LMBR1
422 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000007.14:g.156791579C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV003991460] Chr7:156791579 [GRCh38]
Chr7:156584273 [GRCh37]
Chr7:7q36.3		 pathogenic
NC_000007.14:g.156791542A>C single nucleotide variant Polydactyly of a triphalangeal thumb [RCV003991461] Chr7:156791542 [GRCh38]
Chr7:156584236 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_022458.3(LMBR1):c.180-2465_319+2696del deletion Acheiropodia [RCV000005174] Chr7:156823909..156828009 [GRCh38]
Chr7:156616603..156620703 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_022458.4(LMBR1):c.423+4618C>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000005175] Chr7:156791771 [GRCh38]
Chr7:156584465 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_022458.4(LMBR1):c.423+4917G>A single nucleotide variant Tibia, hypoplasia or aplasia of, with polydactyly [RCV000005176] Chr7:156791472 [GRCh38]
Chr7:156584166 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_022458.4(LMBR1):c.423+4818A>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000005177] Chr7:156791571 [GRCh38]
Chr7:156584265 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_022458.4(LMBR1):c.423+4842T>C single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000005178]|Triphalangeal thumb [RCV000005179] Chr7:156791547 [GRCh38]
Chr7:156584241 [GRCh37]
Chr7:7q36.3		 pathogenic
NG_009240.1:g.(71605_101850)_(134420_151298)dup duplication Triphalangeal thumb-polysyndactyly syndrome [RCV000005180] Chr7:156763789..156796359 [GRCh38]
Chr7:156556483..156589053 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_022458.4(LMBR1):c.423+5252A>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000005181]|Triphalangeal thumb [RCV000005182]|not provided [RCV002512797] Chr7:156791137 [GRCh38]
Chr7:156583831 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_022458.4(LMBR1):c.423+5134C>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000005183]|Triphalangeal thumb [RCV000005184] Chr7:156791255 [GRCh38]
Chr7:156583949 [GRCh37]
Chr7:7q36.3		 pathogenic
NC_000007.14:g.156350691_156939511dup duplication Triphalangeal thumb-polysyndactyly syndrome [RCV000005185] Chr7:156350691..156939511 [GRCh38]
Chr7:7q36.3		 pathogenic
LMBR1, 235-KB DUP, IVS5 duplication Syndactyly type 4 [RCV000005186] Chr7:7q36 pathogenic
NM_022458.4(LMBR1):c.423+4808T>C single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000005188]|Triphalangeal thumb [RCV000005187]|not provided [RCV002512798] Chr7:156791581 [GRCh38]
Chr7:156584275 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_022458.4(LMBR1):c.423+4909C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000005189] Chr7:156791480 [GRCh38]
Chr7:156584174 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_022458.4(LMBR1):c.423+4915C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000148024]|Tibia, hypoplasia or aplasia of, with polydactyly [RCV000148025]|Triphalangeal thumb [RCV000148023]|not provided [RCV001854530] Chr7:156791474 [GRCh38]
Chr7:156584168 [GRCh37]
Chr7:7q36.3		 pathogenic|not provided
NM_022458.3(LMBR1):c.66+27899G>A single nucleotide variant Lung cancer [RCV000105908] Chr7:156865029 [GRCh38]
Chr7:156657723 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1 copy number loss See cases [RCV000050856] Chr7:155007022..159135526 [GRCh38]
Chr7:154798732..158928217 [GRCh37]
Chr7:154429665..158620978 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1 copy number loss See cases [RCV000051108] Chr7:147250465..159325876 [GRCh38]
Chr7:146947557..159118566 [GRCh37]
Chr7:146578490..158811327 [NCBI36]
Chr7:7q35-36.3		 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 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 copy number loss See cases [RCV000054178] Chr7:143884559..159282390 [GRCh38]
Chr7:143581652..159075079 [GRCh37]
Chr7:143212585..158767840 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1 copy number loss See cases [RCV000054188] Chr7:145699944..159296617 [GRCh38]
Chr7:145397037..159089306 [GRCh37]
Chr7:145027970..158782067 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1 copy number loss See cases [RCV000054190] Chr7:152332476..159296617 [GRCh38]
Chr7:152029561..159089306 [GRCh37]
Chr7:151660494..158782067 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1 copy number loss See cases [RCV000054191] Chr7:152918472..159307523 [GRCh38]
Chr7:152615557..159100212 [GRCh37]
Chr7:152246490..158792973 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1 copy number loss See cases [RCV000054192] Chr7:152920128..159332714 [GRCh38]
Chr7:152617213..159125404 [GRCh37]
Chr7:152248146..158818165 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:153833092-159282531)x1 copy number loss See cases [RCV000054193] Chr7:153833092..159282531 [GRCh38]
Chr7:153530177..159075220 [GRCh37]
Chr7:153161110..158767981 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:156544324-159325876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054194]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054194]|See cases [RCV000054194] Chr7:156544324..159325876 [GRCh38]
Chr7:156337018..159118566 [GRCh37]
Chr7:156029779..158811327 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
NM_022458.4(LMBR1):c.460C>A (p.Leu154Ile) single nucleotide variant not provided [RCV000087237] Chr7:156763759 [GRCh38]
Chr7:156556453 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156791472C>G single nucleotide variant Tibia, hypoplasia or aplasia of, with polydactyly [RCV003991465] Chr7:156791472 [GRCh38]
Chr7:156584166 [GRCh37]
Chr7:7q36.3		 pathogenic
LMBR1, 73-KB DUP duplication Syndactyly type 4 [RCV000144045] Chr7:7q36.3 pathogenic
NM_022458.4(LMBR1):c.423+4919A>G single nucleotide variant Acheiropodia [RCV004796040]|Tibia, hypoplasia or aplasia of, with polydactyly [RCV003991466]|not provided [RCV004719711] Chr7:156791470 [GRCh38]
Chr7:156584164 [GRCh37]
Chr7:7q36.3		 pathogenic|likely pathogenic
NM_022458.3(LMBR1):c.320-5565_423+10975dup duplication Laurin-Sandrow syndrome [RCV000144891] Chr7:156785414..156802057 [GRCh38]
Chr7:156578108..156594751 [GRCh37]
Chr7:7q36.3		 pathogenic
NC_000007.14:g.156771162_156817938dup duplication Laurin-Sandrow syndrome [RCV000144892] Chr7:156771162..156817938 [GRCh38]
Chr7:156563856..156610632 [GRCh37]
Chr7:7q36.3		 pathogenic
NC_000007.14:g.156778086_156854056dup duplication Laurin-Sandrow syndrome [RCV000144893] Chr7:156778086..156854056 [GRCh38]
Chr7:156570780..156646750 [GRCh37]
Chr7:7q36.3		 pathogenic
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 7q36.2-36.3(chr7:153908499-159325876)x1 copy number loss See cases [RCV000135826] Chr7:153908499..159325876 [GRCh38]
Chr7:153605584..159118566 [GRCh37]
Chr7:153236517..158811327 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1 copy number loss See cases [RCV000135662] Chr7:155501171..159325876 [GRCh38]
Chr7:155293866..159118566 [GRCh37]
Chr7:154986627..158811327 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1 copy number loss See cases [RCV000136125] Chr7:151378879..158923762 [GRCh38]
Chr7:151075965..158716453 [GRCh37]
Chr7:150706898..158409214 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic|benign
GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1 copy number loss See cases [RCV000136143] Chr7:152860576..159325876 [GRCh38]
Chr7:152557661..159118566 [GRCh37]
Chr7:152188594..158811327 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1 copy number loss See cases [RCV000136593] Chr7:154939710..159325876 [GRCh38]
Chr7:154731420..159118566 [GRCh37]
Chr7:154362353..158811327 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1 copy number loss See cases [RCV000136089] Chr7:150486071..159335865 [GRCh38]
Chr7:150183159..159128555 [GRCh37]
Chr7:149814092..158821316 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1 copy number loss See cases [RCV000136940] Chr7:152807205..159325876 [GRCh38]
Chr7:152504290..159118566 [GRCh37]
Chr7:152135223..158811327 [NCBI36]
Chr7:7q36.2-36.3		 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 7q36.1-36.3(chr7:151104277-159325876)x3 copy number gain See cases [RCV000136683] Chr7:151104277..159325876 [GRCh38]
Chr7:150801364..159118566 [GRCh37]
Chr7:150432297..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1 copy number loss See cases [RCV000137465] Chr7:150802801..159335866 [GRCh38]
Chr7:150499889..159128556 [GRCh37]
Chr7:150130822..158821317 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1 copy number loss See cases [RCV000137338] Chr7:145436544..159331441 [GRCh38]
Chr7:145133637..159124131 [GRCh37]
Chr7:144764570..158816892 [NCBI36]
Chr7:7q35-36.3		 pathogenic|likely pathogenic
GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1 copy number loss See cases [RCV000138005] Chr7:145250254..159335866 [GRCh38]
Chr7:144947347..159128556 [GRCh37]
Chr7:144578280..158821317 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3 copy number gain See cases [RCV000138167] Chr7:155379296..159335866 [GRCh38]
Chr7:155171991..159128556 [GRCh37]
Chr7:154864752..158821317 [NCBI36]
Chr7:7q36.3		 likely pathogenic
GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1 copy number loss See cases [RCV000137781] Chr7:146047157..157522158 [GRCh38]
Chr7:145744250..157314852 [GRCh37]
Chr7:145375183..157007613 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3 copy number gain See cases [RCV000139725] Chr7:152428852..159335865 [GRCh38]
Chr7:152125937..159128555 [GRCh37]
Chr7:151756870..158821316 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1 copy number loss See cases [RCV000141247] Chr7:155574967..159335866 [GRCh38]
Chr7:155367662..159128556 [GRCh37]
Chr7:155060423..158821317 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1 copy number loss See cases [RCV000142592] Chr7:150260297..159325876 [GRCh38]
Chr7:149957386..159118566 [GRCh37]
Chr7:149588319..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1 copy number loss See cases [RCV000142635] Chr7:155262313..159117047 [GRCh38]
Chr7:155054023..158909738 [GRCh37]
Chr7:154684956..158602499 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1 copy number loss See cases [RCV000143503] Chr7:147144002..159327017 [GRCh38]
Chr7:146841094..159119707 [GRCh37]
Chr7:146472027..158812468 [NCBI36]
Chr7:7q35-36.3		 pathogenic
NM_022458.4(LMBR1):c.453G>T (p.Leu151Phe) single nucleotide variant not provided [RCV000179524] Chr7:156763766 [GRCh38]
Chr7:156556460 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.462T>G (p.Leu154=) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000261847] Chr7:156763757 [GRCh38]
Chr7:156556451 [GRCh37]
Chr7:7q36.3		 likely benign|uncertain significance
NM_022458.4(LMBR1):c.528C>G (p.Ala176=) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000302035]|not provided [RCV000955386]|not specified [RCV000274966] Chr7:156763691 [GRCh38]
Chr7:156556385 [GRCh37]
Chr7:7q36.3		 benign|likely benign
GRCh37/hg19 7q36.3(chr7:156411559-157009298)x3 copy number gain See cases [RCV000449024] Chr7:156411559..157009298 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.843G>A (p.Arg281=) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000347140]|not provided [RCV000375873] Chr7:156728716 [GRCh38]
Chr7:156521410 [GRCh37]
Chr7:7q36.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022458.4(LMBR1):c.*1357A>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000280470] Chr7:156682721 [GRCh38]
Chr7:156475415 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*36C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000282355]|not provided [RCV001683430] Chr7:156684042 [GRCh38]
Chr7:156476736 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*2926G>C single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000265910] Chr7:156681152 [GRCh38]
Chr7:156473846 [GRCh37]
Chr7:7q36.3		 benign|likely benign
GRCh37/hg19 7q36.3(chr7:156431577-157598312)x1 copy number loss See cases [RCV000240340] Chr7:156431577..157598312 [GRCh37]
Chr7:7q36.3		 likely pathogenic
NM_022458.4(LMBR1):c.*2081G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000397645] Chr7:156681997 [GRCh38]
Chr7:156474691 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.770C>T (p.Ser257Leu) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000395503] Chr7:156734245 [GRCh38]
Chr7:156526939 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.529G>A (p.Ala177Thr) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000395510] Chr7:156763690 [GRCh38]
Chr7:156556384 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*2065A>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000353352] Chr7:156682013 [GRCh38]
Chr7:156474707 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*2198C>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000302109] Chr7:156681880 [GRCh38]
Chr7:156474574 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*685G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000395754] Chr7:156683393 [GRCh38]
Chr7:156476087 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*1469C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000286478] Chr7:156682609 [GRCh38]
Chr7:156475303 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*2596A>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000347074]|not provided [RCV004712382] Chr7:156681482 [GRCh38]
Chr7:156474176 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*246G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000270903] Chr7:156683832 [GRCh38]
Chr7:156476526 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.1095C>T (p.Gly365=) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000348447]|not provided [RCV001712350] Chr7:156725498 [GRCh38]
Chr7:156518192 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.1399C>G (p.Leu467Val) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000373403] Chr7:156684152 [GRCh38]
Chr7:156476846 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*89A>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000374486]|not provided [RCV001707681] Chr7:156683989 [GRCh38]
Chr7:156476683 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.474G>A (p.Ala158=) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000359191]|not provided [RCV002519503] Chr7:156763745 [GRCh38]
Chr7:156556439 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*383T>C single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000272143]|not provided [RCV004712388] Chr7:156683695 [GRCh38]
Chr7:156476389 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*2489T>C single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000289082] Chr7:156681589 [GRCh38]
Chr7:156474283 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*722G>C single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000351645] Chr7:156683356 [GRCh38]
Chr7:156476050 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*1359G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000377372] Chr7:156682719 [GRCh38]
Chr7:156475413 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.1083C>T (p.Ser361=) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000289958]|not provided [RCV002523588] Chr7:156725510 [GRCh38]
Chr7:156518204 [GRCh37]
Chr7:7q36.3		 likely benign|uncertain significance
NM_022458.4(LMBR1):c.*2089G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000340371]|not provided [RCV004712383] Chr7:156681989 [GRCh38]
Chr7:156474683 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*2500A>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000405749] Chr7:156681578 [GRCh38]
Chr7:156474272 [GRCh37]
Chr7:7q36.3		 likely benign|uncertain significance
NM_022458.4(LMBR1):c.*2603A>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000289881]|not provided [RCV004712381] Chr7:156681475 [GRCh38]
Chr7:156474169 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*1470G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000379220]|not provided [RCV004712385] Chr7:156682608 [GRCh38]
Chr7:156475302 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*91C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000322088]|not provided [RCV001692041] Chr7:156683987 [GRCh38]
Chr7:156476681 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.52G>T (p.Val18Leu) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000383646] Chr7:156892942 [GRCh38]
Chr7:156685636 [GRCh37]
Chr7:7q36.3		 likely benign|uncertain significance
NM_022458.4(LMBR1):c.*1797G>C single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000384854] Chr7:156682281 [GRCh38]
Chr7:156474975 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.61T>A (p.Ser21Thr) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000331447]|not provided [RCV003736746] Chr7:156892933 [GRCh38]
Chr7:156685627 [GRCh37]
Chr7:7q36.3		 benign|uncertain significance
NM_022458.4(LMBR1):c.432A>G (p.Arg144=) single nucleotide variant LMBR1-related disorder [RCV003912539]|Polydactyly of a triphalangeal thumb [RCV000353427] Chr7:156763787 [GRCh38]
Chr7:156556481 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.3(LMBR1):c.-215_-214insCCCCGCCCCCG microsatellite Triphalangeal thumb-polysyndactyly syndrome [RCV000402824]|not provided [RCV001709631] Chr7:156893207..156893208 [GRCh38]
Chr7:156685901..156685902 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*303T>C single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000363154] Chr7:156683775 [GRCh38]
Chr7:156476469 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*1905C>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000275166] Chr7:156682173 [GRCh38]
Chr7:156474867 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.16G>A (p.Glu6Lys) single nucleotide variant Inborn genetic diseases [RCV002519504]|Polydactyly of a triphalangeal thumb [RCV000291723]|not provided [RCV000598270] Chr7:156892978 [GRCh38]
Chr7:156685672 [GRCh37]
Chr7:7q36.3		 benign|likely benign|uncertain significance
NM_022458.4(LMBR1):c.204C>T (p.Leu68=) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000292725] Chr7:156826720 [GRCh38]
Chr7:156619414 [GRCh37]
Chr7:7q36.3		 likely benign|uncertain significance
NM_022458.4(LMBR1):c.350A>G (p.Asn117Ser) single nucleotide variant Inborn genetic diseases [RCV002523589]|Polydactyly of a triphalangeal thumb [RCV000332422]|not provided [RCV003546549] Chr7:156796462 [GRCh38]
Chr7:156589156 [GRCh37]
Chr7:7q36.3		 likely benign|uncertain significance
NM_022458.4(LMBR1):c.*1325C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000404441]|not provided [RCV004712387] Chr7:156682753 [GRCh38]
Chr7:156475447 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.682A>G (p.Thr228Ala) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000307548]|not provided [RCV001535352] Chr7:156762136 [GRCh38]
Chr7:156554830 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*2667A>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000386559] Chr7:156681411 [GRCh38]
Chr7:156474105 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*2820G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000260048] Chr7:156681258 [GRCh38]
Chr7:156473952 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.357T>C (p.Cys119=) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000260814]|not provided [RCV001636989] Chr7:156796455 [GRCh38]
Chr7:156589149 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*2016C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000276343] Chr7:156682062 [GRCh38]
Chr7:156474756 [GRCh37]
Chr7:7q36.3		 likely benign|uncertain significance
NM_022458.4(LMBR1):c.*2899A>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000357234] Chr7:156681179 [GRCh38]
Chr7:156473873 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*2297C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000405979] Chr7:156681781 [GRCh38]
Chr7:156474475 [GRCh37]
Chr7:7q36.3		 benign|uncertain significance
NM_022458.4(LMBR1):c.*2761G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000295827] Chr7:156681317 [GRCh38]
Chr7:156474011 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.665A>C (p.Gln222Pro) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000359894]|not provided [RCV001861301] Chr7:156762153 [GRCh38]
Chr7:156554847 [GRCh37]
Chr7:7q36.3		 benign|uncertain significance
NM_022458.4(LMBR1):c.*1971A>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000315115]|not provided [RCV004712384] Chr7:156682107 [GRCh38]
Chr7:156474801 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*1444T>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000339133]|not provided [RCV004712386] Chr7:156682634 [GRCh38]
Chr7:156475328 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.-183GCT[1] microsatellite Triphalangeal thumb-polysyndactyly syndrome [RCV000339202]|not provided [RCV001653721] Chr7:156893171..156893173 [GRCh38]
Chr7:156685865..156685867 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*305G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000310844] Chr7:156683773 [GRCh38]
Chr7:156476467 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*100T>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000264631] Chr7:156683978 [GRCh38]
Chr7:156476672 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*15G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000316422]|not provided [RCV004712389] Chr7:156684063 [GRCh38]
Chr7:156476757 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*2798C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000317092] Chr7:156681280 [GRCh38]
Chr7:156473974 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*2905T>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000318687] Chr7:156681173 [GRCh38]
Chr7:156473867 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*2477G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000341690] Chr7:156681601 [GRCh38]
Chr7:156474295 [GRCh37]
Chr7:7q36.3		 likely benign|uncertain significance
NM_022458.4(LMBR1):c.1092C>T (p.Val364=) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000390574]|not provided [RCV001712545] Chr7:156725501 [GRCh38]
Chr7:156518195 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*2066G>C single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000300875] Chr7:156682012 [GRCh38]
Chr7:156474706 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.435C>T (p.Ala145=) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000319643] Chr7:156763784 [GRCh38]
Chr7:156556478 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*1922A>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000367361] Chr7:156682156 [GRCh38]
Chr7:156474850 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*1785dup duplication Triphalangeal thumb-polysyndactyly syndrome [RCV000269455] Chr7:156682292..156682293 [GRCh38]
Chr7:156474986..156474987 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.180GTT[1] (p.Leu61del) microsatellite not provided [RCV000313355] Chr7:156826739..156826741 [GRCh38]
Chr7:156619433..156619435 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*2992dup duplication Triphalangeal thumb-polysyndactyly syndrome [RCV000358154] Chr7:156681085..156681086 [GRCh38]
Chr7:156473779..156473780 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*136dup duplication Triphalangeal thumb-polysyndactyly syndrome [RCV000380224]|not provided [RCV001643088] Chr7:156683941..156683942 [GRCh38]
Chr7:156476635..156476636 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.423+4545T>C single nucleotide variant not provided [RCV000489851] Chr7:156791844 [GRCh38]
Chr7:156584538 [GRCh37]
Chr7:7q36.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022458.4(LMBR1):c.*2744G>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000329749] Chr7:156681334 [GRCh38]
Chr7:156474028 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*3180A>C single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000305668] Chr7:156680898 [GRCh38]
Chr7:156473592 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.-176G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000284195] Chr7:156893169 [GRCh38]
Chr7:156685863 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.-158G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000405899] Chr7:156893151 [GRCh38]
Chr7:156685845 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.1111T>G (p.Phe371Val) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000295917] Chr7:156725482 [GRCh38]
Chr7:156518176 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*457C>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000369069] Chr7:156683621 [GRCh38]
Chr7:156476315 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*2773G>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000387948] Chr7:156681305 [GRCh38]
Chr7:156473999 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.240C>G (p.Phe80Leu) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000389440] Chr7:156826684 [GRCh38]
Chr7:156619378 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*3207T>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000375674] Chr7:156680871 [GRCh38]
Chr7:156473565 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.*166G>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000323241] Chr7:156683912 [GRCh38]
Chr7:156476606 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*1338dup duplication Triphalangeal thumb-polysyndactyly syndrome [RCV000337883] Chr7:156682739..156682740 [GRCh38]
Chr7:156475433..156475434 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:155389460-157960969)x1 copy number loss Microcephaly [RCV002284311] Chr7:155389460..157960969 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_022458.4(LMBR1):c.*728G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000298091] Chr7:156683350 [GRCh38]
Chr7:156476044 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*650A>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000312008] Chr7:156683428 [GRCh38]
Chr7:156476122 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*1534A>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000326915] Chr7:156682544 [GRCh38]
Chr7:156475238 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*1862T>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000328037] Chr7:156682216 [GRCh38]
Chr7:156474910 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.-154G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV000344349] Chr7:156893147 [GRCh38]
Chr7:156685841 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.684+10del deletion not provided [RCV000733438] Chr7:156762124 [GRCh38]
Chr7:156554818 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.2-36.3(chr7:153007287-158090794)x1 copy number loss See cases [RCV000449257] Chr7:153007287..158090794 [GRCh37]
Chr7:7q36.2-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 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
GRCh37/hg19 7q35-36.3(chr7:143839360-159138663) copy number loss Abnormal esophagus morphology [RCV000416719] Chr7:143839360..159138663 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
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
GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3 copy number gain See cases [RCV000447776] Chr7:149261179..159075020 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:151167135-159119707)x1 copy number loss See cases [RCV000512112] Chr7:151167135..159119707 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
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
GRCh37/hg19 7q36.2-36.3(chr7:154963758-157582526)x3 copy number gain See cases [RCV000510598] Chr7:154963758..157582526 [GRCh37]
Chr7:7q36.2-36.3		 likely pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:156320289-159119707)x3 copy number gain See cases [RCV000511617] Chr7:156320289..159119707 [GRCh37]
Chr7:7q36.3		 pathogenic|uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:151566053-159119707)x3 copy number gain See cases [RCV000511775] Chr7:151566053..159119707 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
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
GRCh37/hg19 7q36.1-36.3(chr7:150553743-159119707)x3 copy number gain See cases [RCV000510762] Chr7:150553743..159119707 [GRCh37]
Chr7:7q36.1-36.3		 likely pathogenic
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
NM_022458.4(LMBR1):c.424-10dup duplication not specified [RCV000613148] Chr7:156763804..156763805 [GRCh38]
Chr7:156556498..156556499 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+5176A>G single nucleotide variant Holoprosencephaly 3 [RCV002528623]|not specified [RCV000610695] Chr7:156791213 [GRCh38]
Chr7:156583907 [GRCh37]
Chr7:7q36.3		 likely benign
GRCh37/hg19 7q36.3(chr7:156656444-156866708) copy number gain Epicanthus [RCV000626541] Chr7:156656444..156866708 [GRCh37]
Chr7:7q36.3		 likely pathogenic|uncertain significance
GRCh37/hg19 7q36.3(chr7:156333296-156556779) copy number gain Epicanthus [RCV000626540] Chr7:156333296..156556779 [GRCh37]
Chr7:7q36.3		 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
GRCh37/hg19 7q36.2-36.3(chr7:153958355-159119707)x1 copy number loss not provided [RCV000682907] Chr7:153958355..159119707 [GRCh37]
Chr7:7q36.2-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:156460343-156682575)x3 copy number gain Syndactyly type 4 [RCV000735861] Chr7:156460343..156682575 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_022458.4(LMBR1):c.684+142_684+156dup duplication not provided [RCV001530575] Chr7:156761976..156761977 [GRCh38]
Chr7:156554670..156554671 [GRCh37]
Chr7:7q36.3		 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
NC_000007.14:g.(?_152454659)_(158705768_?)del deletion Autism [RCV000754327] Chr7:152454659..158705768 [GRCh38]
Chr7:7q36.1-36.3		 likely 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
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:148238976-159126310)x1 copy number loss not provided [RCV000747115] Chr7:148238976..159126310 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:155975007-157233868)x3 copy number gain not provided [RCV000747184] Chr7:155975007..157233868 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.1158+122A>G single nucleotide variant not provided [RCV001691387] Chr7:156725313 [GRCh38]
Chr7:156518007 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.1068-40T>C single nucleotide variant not provided [RCV001610222] Chr7:156725565 [GRCh38]
Chr7:156518259 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.180-215C>T single nucleotide variant not provided [RCV001666658] Chr7:156826959 [GRCh38]
Chr7:156619653 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.180-261T>C single nucleotide variant not provided [RCV001568027] Chr7:156827005 [GRCh38]
Chr7:156619699 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.1226-298T>A single nucleotide variant not provided [RCV001693462] Chr7:156688489 [GRCh38]
Chr7:156481183 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*3187A>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001165394]|not provided [RCV004695077] Chr7:156680891 [GRCh38]
Chr7:156473585 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.66+58C>T single nucleotide variant not provided [RCV001552029] Chr7:156892870 [GRCh38]
Chr7:156685564 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.684+203G>A single nucleotide variant not provided [RCV001548049] Chr7:156761931 [GRCh38]
Chr7:156554625 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.179+169_179+170insTTTAGCACTGGT insertion not provided [RCV001644146] Chr7:156833583..156833584 [GRCh38]
Chr7:156626277..156626278 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.140-110T>A single nucleotide variant not provided [RCV001576193] Chr7:156833902 [GRCh38]
Chr7:156626596 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+5311T>C single nucleotide variant not provided [RCV003656089] Chr7:156791078 [GRCh38]
Chr7:156583772 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.816A>G (p.Val272=) single nucleotide variant not provided [RCV000925789] Chr7:156734199 [GRCh38]
Chr7:156526893 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+4516C>G single nucleotide variant not provided [RCV000947088] Chr7:156791873 [GRCh38]
Chr7:156584567 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.551-6T>A single nucleotide variant not provided [RCV000927655] Chr7:156763182 [GRCh38]
Chr7:156555876 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.384T>C (p.Phe128=) single nucleotide variant not provided [RCV000921746] Chr7:156796428 [GRCh38]
Chr7:156589122 [GRCh37]
Chr7:7q36.3		 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
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_022458.4(LMBR1):c.494T>C (p.Val165Ala) single nucleotide variant Inborn genetic diseases [RCV003266695] Chr7:156763725 [GRCh38]
Chr7:156556419 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.423+5020C>G single nucleotide variant not provided [RCV000827978] Chr7:156791369 [GRCh38]
Chr7:156584063 [GRCh37]
Chr7:7q36.3		 benign|likely benign
GRCh37/hg19 7q36.3(chr7:156629234-159119707)x1 copy number loss not provided [RCV000847648] Chr7:156629234..159119707 [GRCh37]
Chr7:7q36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1 copy number loss not provided [RCV001006022] Chr7:145962558..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
NM_022458.4(LMBR1):c.916-176A>C single nucleotide variant not provided [RCV001564360] Chr7:156728183 [GRCh38]
Chr7:156520877 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.*1150A>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001163499] Chr7:156682928 [GRCh38]
Chr7:156475622 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*1061A>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001163500] Chr7:156683017 [GRCh38]
Chr7:156475711 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.522C>A (p.Asn174Lys) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001163600] Chr7:156763697 [GRCh38]
Chr7:156556391 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*2948G>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001165395] Chr7:156681130 [GRCh38]
Chr7:156473824 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
NM_022458.4(LMBR1):c.*1608C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001158774] Chr7:156682470 [GRCh38]
Chr7:156475164 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*1560T>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001158775] Chr7:156682518 [GRCh38]
Chr7:156475212 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.96C>T (p.Tyr32=) single nucleotide variant not provided [RCV003107219] Chr7:156836856 [GRCh38]
Chr7:156629550 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156893407C>T single nucleotide variant not provided [RCV001658542] Chr7:156893407 [GRCh38]
Chr7:156686101 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.1226-251G>A single nucleotide variant not provided [RCV001679056] Chr7:156688442 [GRCh38]
Chr7:156481136 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.619+210G>A single nucleotide variant not provided [RCV001617726] Chr7:156762898 [GRCh38]
Chr7:156555592 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.685-196T>A single nucleotide variant not provided [RCV001659571] Chr7:156756661 [GRCh38]
Chr7:156549355 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.550+228T>G single nucleotide variant not provided [RCV001598826] Chr7:156763441 [GRCh38]
Chr7:156556135 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.684+142_684+155dup duplication not provided [RCV001556513] Chr7:156761976..156761977 [GRCh38]
Chr7:156554670..156554671 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.684+142_684+146dup duplication not provided [RCV001589726] Chr7:156761976..156761977 [GRCh38]
Chr7:156554670..156554671 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.180-146T>C single nucleotide variant not provided [RCV001556693] Chr7:156826890 [GRCh38]
Chr7:156619584 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.619+208T>C single nucleotide variant not provided [RCV001616118] Chr7:156762900 [GRCh38]
Chr7:156555594 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.1159-79C>A single nucleotide variant not provided [RCV001614410] Chr7:156724257 [GRCh38]
Chr7:156516951 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.140-191C>G single nucleotide variant not provided [RCV001669972] Chr7:156833983 [GRCh38]
Chr7:156626677 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.685-187G>A single nucleotide variant not provided [RCV001530787] Chr7:156756652 [GRCh38]
Chr7:156549346 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.424-237A>G single nucleotide variant Holoprosencephaly 3 [RCV002072260]|not provided [RCV001575486] Chr7:156764032 [GRCh38]
Chr7:156556726 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.619+272_619+275del microsatellite not provided [RCV001620593] Chr7:156762833..156762836 [GRCh38]
Chr7:156555527..156555530 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156893232G>A single nucleotide variant not provided [RCV001558670] Chr7:156893232 [GRCh38]
Chr7:156685926 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+4179G>A single nucleotide variant not provided [RCV001710791] Chr7:156792210 [GRCh38]
Chr7:156584904 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.838+226C>A single nucleotide variant not provided [RCV001715495] Chr7:156733951 [GRCh38]
Chr7:156526645 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.1159-4A>T single nucleotide variant not provided [RCV000975443] Chr7:156724182 [GRCh38]
Chr7:156516876 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156791884T>C single nucleotide variant Holoprosencephaly 3 [RCV000909515]|SHH-related disorder [RCV004551775] Chr7:156791884 [GRCh38]
Chr7:156584578 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NC_000007.14:g.156791921T>G single nucleotide variant Holoprosencephaly 3 [RCV000954116] Chr7:156791921 [GRCh38]
Chr7:156584615 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156791931A>G single nucleotide variant Holoprosencephaly 3 [RCV000954117] Chr7:156791931 [GRCh38]
Chr7:156584625 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*2771G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001158668] Chr7:156681307 [GRCh38]
Chr7:156474001 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*11C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001158885] Chr7:156684067 [GRCh38]
Chr7:156476761 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*2458A>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001161876] Chr7:156681620 [GRCh38]
Chr7:156474314 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*2147T>C single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001163407] Chr7:156681931 [GRCh38]
Chr7:156474625 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*1347A>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001160128] Chr7:156682731 [GRCh38]
Chr7:156475425 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.1293A>G (p.Val431=) single nucleotide variant not provided [RCV000933956] Chr7:156688124 [GRCh38]
Chr7:156480818 [GRCh37]
Chr7:7q36.3		 likely benign
Single allele deletion Acheiropodia [RCV001543415] Chr7:156816030..156828070 [GRCh37]
Chr7:7q36.3		 likely pathogenic
NM_022458.4(LMBR1):c.66+32C>T single nucleotide variant not provided [RCV001597856] Chr7:156892896 [GRCh38]
Chr7:156685590 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.1226-261G>A single nucleotide variant not provided [RCV001553081] Chr7:156688452 [GRCh38]
Chr7:156481146 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.66+223C>T single nucleotide variant not provided [RCV001676166] Chr7:156892705 [GRCh38]
Chr7:156685399 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.66+77_66+83del deletion not provided [RCV001596211] Chr7:156892845..156892851 [GRCh38]
Chr7:156685539..156685545 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.139+124C>G single nucleotide variant not provided [RCV001561195] Chr7:156836689 [GRCh38]
Chr7:156629383 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.66+192C>T single nucleotide variant not provided [RCV001576770] Chr7:156892736 [GRCh38]
Chr7:156685430 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.66+227C>G single nucleotide variant not provided [RCV001608653] Chr7:156892701 [GRCh38]
Chr7:156685395 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.66+209G>C single nucleotide variant not provided [RCV001657247] Chr7:156892719 [GRCh38]
Chr7:156685413 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.319+224T>C single nucleotide variant not provided [RCV001688499] Chr7:156826381 [GRCh38]
Chr7:156619075 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.1387+91C>T single nucleotide variant not provided [RCV001597934] Chr7:156687939 [GRCh38]
Chr7:156480633 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.550+41C>T single nucleotide variant not provided [RCV001597855] Chr7:156763628 [GRCh38]
Chr7:156556322 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.684+142_684+154dup duplication not provided [RCV001597875] Chr7:156761976..156761977 [GRCh38]
Chr7:156554670..156554671 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.179+171_179+173del deletion not provided [RCV001635818] Chr7:156833580..156833582 [GRCh38]
Chr7:156626274..156626276 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.423+3946T>C single nucleotide variant not provided [RCV001661207] Chr7:156792443 [GRCh38]
Chr7:156585137 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.66+30T>C single nucleotide variant not provided [RCV001621624] Chr7:156892898 [GRCh38]
Chr7:156685592 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.1388-207T>C single nucleotide variant not provided [RCV001677850] Chr7:156684370 [GRCh38]
Chr7:156477064 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.179+43G>A single nucleotide variant not provided [RCV001677875] Chr7:156833710 [GRCh38]
Chr7:156626404 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.685-36C>T single nucleotide variant not provided [RCV001718395] Chr7:156756501 [GRCh38]
Chr7:156549195 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.423+4218T>C single nucleotide variant not provided [RCV001591996] Chr7:156792171 [GRCh38]
Chr7:156584865 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.1225+253A>G single nucleotide variant not provided [RCV001673343] Chr7:156723859 [GRCh38]
Chr7:156516553 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.1159-84A>G single nucleotide variant not provided [RCV001677436] Chr7:156724262 [GRCh38]
Chr7:156516956 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*1358C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001160127] Chr7:156682720 [GRCh38]
Chr7:156475414 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*2519T>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001161875] Chr7:156681559 [GRCh38]
Chr7:156474253 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.627A>G (p.Thr209=) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001163599] Chr7:156762191 [GRCh38]
Chr7:156554885 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*2658T>C single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001158670] Chr7:156681420 [GRCh38]
Chr7:156474114 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*2609C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001158671] Chr7:156681469 [GRCh38]
Chr7:156474163 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.1233T>C (p.Thr411=) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001158886] Chr7:156688184 [GRCh38]
Chr7:156480878 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.*2020T>C single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001163695] Chr7:156682058 [GRCh38]
Chr7:156474752 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*2706A>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001158669] Chr7:156681372 [GRCh38]
Chr7:156474066 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*1841T>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001158773] Chr7:156682237 [GRCh38]
Chr7:156474931 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.-146C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001158981] Chr7:156893139 [GRCh38]
Chr7:156685833 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*1259C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001160129] Chr7:156682819 [GRCh38]
Chr7:156475513 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*1172C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001160130] Chr7:156682906 [GRCh38]
Chr7:156475600 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.1026G>A (p.Thr342=) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001160227] Chr7:156725805 [GRCh38]
Chr7:156518499 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.923C>T (p.Ser308Leu) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001160228] Chr7:156728000 [GRCh38]
Chr7:156520694 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.423+3899G>C single nucleotide variant not provided [RCV001690984] Chr7:156792490 [GRCh38]
Chr7:156585184 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.684+142_684+143dup duplication not provided [RCV001615030] Chr7:156761976..156761977 [GRCh38]
Chr7:156554670..156554671 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.1159-130_1159-129insC insertion not provided [RCV001695467] Chr7:156724307..156724308 [GRCh38]
Chr7:156517001..156517002 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.319+260C>G single nucleotide variant not provided [RCV001609151] Chr7:156826345 [GRCh38]
Chr7:156619039 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.684+142dup duplication not provided [RCV001611399] Chr7:156761976..156761977 [GRCh38]
Chr7:156554670..156554671 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.180-77G>A single nucleotide variant not provided [RCV001650070] Chr7:156826821 [GRCh38]
Chr7:156619515 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*2451C>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001161877] Chr7:156681627 [GRCh38]
Chr7:156474321 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.550+169T>A single nucleotide variant not provided [RCV001538914] Chr7:156763500 [GRCh38]
Chr7:156556194 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.66+75dup duplication not provided [RCV001706981] Chr7:156892851..156892852 [GRCh38]
Chr7:156685545..156685546 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.320-301C>T single nucleotide variant not provided [RCV001667706] Chr7:156796793 [GRCh38]
Chr7:156589487 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*2088C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001163408] Chr7:156681990 [GRCh38]
Chr7:156474684 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.140-209A>G single nucleotide variant not provided [RCV001611838] Chr7:156834001 [GRCh38]
Chr7:156626695 [GRCh37]
Chr7:7q36.3		 benign
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3 copy number gain not provided [RCV001249383] Chr7:143107740..156886246 [GRCh37]
Chr7:7q35-36.3		 not provided
NM_022458.4(LMBR1):c.*2262G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001163406] Chr7:156681816 [GRCh38]
Chr7:156474510 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*2080C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001163409] Chr7:156681998 [GRCh38]
Chr7:156474692 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.*916C>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001163501] Chr7:156683162 [GRCh38]
Chr7:156475856 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.1159-3C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001158887] Chr7:156724181 [GRCh38]
Chr7:156516875 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.-91C>G single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001158980] Chr7:156893084 [GRCh38]
Chr7:156685778 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*245C>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001163796]|not provided [RCV004695061] Chr7:156683833 [GRCh38]
Chr7:156476527 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.165C>T (p.Ile55=) single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001163918] Chr7:156833767 [GRCh38]
Chr7:156626461 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.*1363G>T single nucleotide variant Polydactyly of a triphalangeal thumb [RCV001160126] Chr7:156682715 [GRCh38]
Chr7:156475409 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:155319280-159119707)x1 copy number loss not provided [RCV001259466] Chr7:155319280..159119707 [GRCh37]
Chr7:7q36.3		 pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q36.2-36.3(chr7:152800000-159138663)x1 copy number loss See cases [RCV001263034] Chr7:152800000..159138663 [GRCh37]
Chr7:7q36.2-36.3		 pathogenic|uncertain significance
NC_000007.14:g.156728717CT[1] microsatellite not provided [RCV001382850] Chr7:156728717..156728720 [GRCh38]
Chr7:156521411..156521414 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_022458.4(LMBR1):c.424-218dup duplication Holoprosencephaly 3 [RCV002071939]|not provided [RCV001538528] Chr7:156764005..156764006 [GRCh38]
Chr7:156556699..156556700 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_022458.4(LMBR1):c.535A>T (p.Met179Leu) single nucleotide variant Inborn genetic diseases [RCV003169764]|not provided [RCV001356812] Chr7:156763684 [GRCh38]
Chr7:156556378 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.839-79T>A single nucleotide variant not provided [RCV001534828] Chr7:156728799 [GRCh38]
Chr7:156521493 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.67-297_67-296dup duplication not provided [RCV001708987] Chr7:156837170..156837171 [GRCh38]
Chr7:156629864..156629865 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.67-297dup duplication not provided [RCV001671894] Chr7:156837170..156837171 [GRCh38]
Chr7:156629864..156629865 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.994-278A>G single nucleotide variant not provided [RCV001649228] Chr7:156726115 [GRCh38]
Chr7:156518809 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.550+224del deletion not provided [RCV001539128] Chr7:156763445 [GRCh38]
Chr7:156556139 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.139+272C>T single nucleotide variant not provided [RCV001710458] Chr7:156836541 [GRCh38]
Chr7:156629235 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.758-154A>G single nucleotide variant not provided [RCV001539309] Chr7:156734411 [GRCh38]
Chr7:156527105 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.66+229del deletion not provided [RCV001686996] Chr7:156892699 [GRCh38]
Chr7:156685393 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.66+77T>G single nucleotide variant not provided [RCV001654895] Chr7:156892851 [GRCh38]
Chr7:156685545 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.66+172_66+176del deletion not provided [RCV001715872] Chr7:156892752..156892756 [GRCh38]
Chr7:156685446..156685450 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.748C>T (p.Arg250Ter) single nucleotide variant not provided [RCV001761378] Chr7:156756402 [GRCh38]
Chr7:156549096 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.423+4916T>C single nucleotide variant not provided [RCV001757226] Chr7:156791473 [GRCh38]
Chr7:156584167 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156796063T>C single nucleotide variant Holoprosencephaly 3 [RCV001895731] Chr7:156796063 [GRCh38]
Chr7:156588757 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789662A>C single nucleotide variant Holoprosencephaly 3 [RCV001929468] Chr7:156789662 [GRCh38]
Chr7:156582356 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789471C>T single nucleotide variant Holoprosencephaly 3 [RCV001893221] Chr7:156789471 [GRCh38]
Chr7:156582165 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156796098A>G single nucleotide variant Holoprosencephaly 3 [RCV001896310] Chr7:156796098 [GRCh38]
Chr7:156588792 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3 copy number gain not provided [RCV001827941] Chr7:148153261..157543640 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1 copy number loss not provided [RCV001832910] Chr7:148695373..159119707 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NM_022458.4(LMBR1):c.391C>G (p.Leu131Val) single nucleotide variant not provided [RCV001928671] Chr7:156796421 [GRCh38]
Chr7:156589115 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.715A>G (p.Ile239Val) single nucleotide variant Inborn genetic diseases [RCV004040480]|not provided [RCV001870758] Chr7:156756435 [GRCh38]
Chr7:156549129 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789667G>C single nucleotide variant Holoprosencephaly 3 [RCV001890648] Chr7:156789667 [GRCh38]
Chr7:156582361 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_022458.4(LMBR1):c.423+3747A>G single nucleotide variant not provided [RCV001894404] Chr7:156792642 [GRCh38]
Chr7:156585336 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789413T>G single nucleotide variant Holoprosencephaly 3 [RCV001902733] Chr7:156789413 [GRCh38]
Chr7:156582107 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.147AGA[1] (p.Glu50del) microsatellite not provided [RCV001980736] Chr7:156833780..156833782 [GRCh38]
Chr7:156626474..156626476 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.1390C>T (p.Leu464Phe) single nucleotide variant not provided [RCV002015808] Chr7:156684161 [GRCh38]
Chr7:156476855 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769062A>C single nucleotide variant Holoprosencephaly 3 [RCV001952863] Chr7:156769062 [GRCh38]
Chr7:156561756 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.13:g.(?_155595594)_(157208792_?)dup duplication Holoprosencephaly 3 [RCV003120760] Chr7:155595594..157208792 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789527T>G single nucleotide variant Holoprosencephaly 3 [RCV002105017] Chr7:156789527 [GRCh38]
Chr7:156582221 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.424-429C>G single nucleotide variant not provided [RCV002560760] Chr7:156764224 [GRCh38]
Chr7:156556918 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156769408T>G single nucleotide variant Holoprosencephaly 3 [RCV002112292] Chr7:156769408 [GRCh38]
Chr7:156562102 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156789388_156789391del deletion Holoprosencephaly 3 [RCV002191680] Chr7:156789386..156789389 [GRCh38]
Chr7:156582080..156582083 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156769096C>T single nucleotide variant Holoprosencephaly 3 [RCV002088841] Chr7:156769096 [GRCh38]
Chr7:156561790 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156796288A>G single nucleotide variant Holoprosencephaly 3 [RCV002148108] Chr7:156796288 [GRCh38]
Chr7:156588982 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156769277A>G single nucleotide variant Holoprosencephaly 3 [RCV002109411] Chr7:156769277 [GRCh38]
Chr7:156561971 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156763984T>C single nucleotide variant Holoprosencephaly 3 [RCV002150433] Chr7:156763984 [GRCh38]
Chr7:156556678 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+3777C>T single nucleotide variant not provided [RCV002116543] Chr7:156792612 [GRCh38]
Chr7:156585306 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156769402G>A single nucleotide variant Holoprosencephaly 3 [RCV002127889] Chr7:156769402 [GRCh38]
Chr7:156562096 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156796272T>C single nucleotide variant Holoprosencephaly 3 [RCV002115026] Chr7:156796272 [GRCh38]
Chr7:156588966 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156779628A>G single nucleotide variant Holoprosencephaly 3 [RCV002210362] Chr7:156779628 [GRCh38]
Chr7:156572322 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156789346C>T single nucleotide variant Holoprosencephaly 3 [RCV002205651] Chr7:156789346 [GRCh38]
Chr7:156582040 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.423+5072A>G single nucleotide variant not provided [RCV002114329] Chr7:156791317 [GRCh38]
Chr7:156584011 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.180-20G>T single nucleotide variant not provided [RCV002174039] Chr7:156826764 [GRCh38]
Chr7:156619458 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156779544G>C single nucleotide variant Holoprosencephaly 3 [RCV002152183] Chr7:156779544 [GRCh38]
Chr7:156572238 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156789347G>A single nucleotide variant Holoprosencephaly 3 [RCV002112376] Chr7:156789347 [GRCh38]
Chr7:156582041 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156769273C>T single nucleotide variant Holoprosencephaly 3 [RCV002132428] Chr7:156769273 [GRCh38]
Chr7:156561967 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156789579T>C single nucleotide variant Holoprosencephaly 3 [RCV002171872] Chr7:156789579 [GRCh38]
Chr7:156582273 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156779610T>C single nucleotide variant Holoprosencephaly 3 [RCV002174311]|not provided [RCV004713149] Chr7:156779610 [GRCh38]
Chr7:156572304 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156769366G>A single nucleotide variant Holoprosencephaly 3 [RCV002104728] Chr7:156769366 [GRCh38]
Chr7:156562060 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156769346A>C single nucleotide variant Holoprosencephaly 3 [RCV002145210] Chr7:156769346 [GRCh38]
Chr7:156562040 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156789712G>A single nucleotide variant Holoprosencephaly 3 [RCV002139578] Chr7:156789712 [GRCh38]
Chr7:156582406 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156779581C>T single nucleotide variant Holoprosencephaly 3 [RCV002158539]|not provided [RCV004713148] Chr7:156779581 [GRCh38]
Chr7:156572275 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.423+5045A>G single nucleotide variant SHH-related disorder [RCV004738553]|not provided [RCV002176386] Chr7:156791344 [GRCh38]
Chr7:156584038 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156779542T>C single nucleotide variant Holoprosencephaly 3 [RCV002182852] Chr7:156779542 [GRCh38]
Chr7:156572236 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156769398G>C single nucleotide variant Holoprosencephaly 3 [RCV002183776] Chr7:156769398 [GRCh38]
Chr7:156562092 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156796048A>G single nucleotide variant Holoprosencephaly 3 [RCV002103537] Chr7:156796048 [GRCh38]
Chr7:156588742 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+5061dup duplication not provided [RCV002118024] Chr7:156791327..156791328 [GRCh38]
Chr7:156584021..156584022 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156796278C>T single nucleotide variant Holoprosencephaly 3 [RCV002218733] Chr7:156796278 [GRCh38]
Chr7:156588972 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156764268G>A single nucleotide variant Holoprosencephaly 3 [RCV002139462] Chr7:156764268 [GRCh38]
Chr7:156556962 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156779444C>G single nucleotide variant Holoprosencephaly 3 [RCV002181179] Chr7:156779444 [GRCh38]
Chr7:156572138 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.13:g.(?_156476772)_(156629599_?)dup duplication not provided [RCV003111495] Chr7:156476772..156629599 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.13:g.(?_152617597)_(158500659_?)del deletion Holoprosencephaly 3 [RCV003122159]|not provided [RCV003122160] Chr7:152617597..158500659 [GRCh37]
Chr7:7q36.2-36.3		 pathogenic|no classifications from unflagged records
NM_022458.4(LMBR1):c.844C>T (p.Arg282Ter) single nucleotide variant not provided [RCV003152175] Chr7:156728715 [GRCh38]
Chr7:156521409 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3 copy number gain not provided [RCV002279740] Chr7:146927174..159128556 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1 copy number loss not provided [RCV002279756] Chr7:149062717..159124131 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
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_022458.4(LMBR1):c.328A>C (p.Asn110His) single nucleotide variant Inborn genetic diseases [RCV002973164] Chr7:156796484 [GRCh38]
Chr7:156589178 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_030936.4(RNF32):c.722A>C (p.Asn241Thr) single nucleotide variant not specified [RCV004242746] Chr7:156675733 [GRCh38]
Chr7:156468427 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.698T>C (p.Leu233Pro) single nucleotide variant Inborn genetic diseases [RCV002970394] Chr7:156756452 [GRCh38]
Chr7:156549146 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769217G>A single nucleotide variant Holoprosencephaly 3 [RCV002750360] Chr7:156769217 [GRCh38]
Chr7:156561911 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156779355C>T single nucleotide variant Holoprosencephaly 3 [RCV002750372] Chr7:156779355 [GRCh38]
Chr7:156572049 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.423+5256T>G single nucleotide variant not provided [RCV002618658] Chr7:156791133 [GRCh38]
Chr7:156583827 [GRCh37]
Chr7:7q36.3		 likely pathogenic|uncertain significance
NC_000007.14:g.156769429del deletion Holoprosencephaly 3 [RCV002735974] Chr7:156769428 [GRCh38]
Chr7:156562122 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156769147A>G single nucleotide variant Holoprosencephaly 3 [RCV002736102] Chr7:156769147 [GRCh38]
Chr7:156561841 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+5155G>T single nucleotide variant not provided [RCV002976528] Chr7:156791234 [GRCh38]
Chr7:156583928 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156764209G>A single nucleotide variant Holoprosencephaly 3 [RCV002735735] Chr7:156764209 [GRCh38]
Chr7:156556903 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.1298C>T (p.Ser433Phe) single nucleotide variant Inborn genetic diseases [RCV002924999] Chr7:156688119 [GRCh38]
Chr7:156480813 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156763986A>G single nucleotide variant Holoprosencephaly 3 [RCV002760717] Chr7:156763986 [GRCh38]
Chr7:156556680 [GRCh37]
Chr7:7q36.3		 likely benign
NM_030936.4(RNF32):c.687C>G (p.Phe229Leu) single nucleotide variant not specified [RCV004186542] Chr7:156675698 [GRCh38]
Chr7:156468392 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769008CCT[1] microsatellite Holoprosencephaly 3 [RCV002735957] Chr7:156769006..156769008 [GRCh38]
Chr7:156561700..156561702 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.1408C>T (p.Pro470Ser) single nucleotide variant Inborn genetic diseases [RCV002977773]|not provided [RCV003720703] Chr7:156684143 [GRCh38]
Chr7:156476837 [GRCh37]
Chr7:7q36.3		 likely benign|uncertain significance
NC_000007.14:g.156789751dup duplication Holoprosencephaly 3 [RCV002889201] Chr7:156789750..156789751 [GRCh38]
Chr7:156582444..156582445 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789751G>A single nucleotide variant Holoprosencephaly 3 [RCV002736103] Chr7:156789751 [GRCh38]
Chr7:156582445 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+4794A>G single nucleotide variant not provided [RCV002867903] Chr7:156791595 [GRCh38]
Chr7:156584289 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156795938G>C single nucleotide variant Holoprosencephaly 3 [RCV002847928] Chr7:156795938 [GRCh38]
Chr7:156588632 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769361T>C single nucleotide variant Holoprosencephaly 3 [RCV002846153] Chr7:156769361 [GRCh38]
Chr7:156562055 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.423+4656A>G single nucleotide variant SHH-related disorder [RCV004550368]|not provided [RCV003058947] Chr7:156791733 [GRCh38]
Chr7:156584427 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.1415C>T (p.Thr472Ile) single nucleotide variant Inborn genetic diseases [RCV002665069] Chr7:156684136 [GRCh38]
Chr7:156476830 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.19G>A (p.Val7Met) single nucleotide variant Inborn genetic diseases [RCV002873709] Chr7:156892975 [GRCh38]
Chr7:156685669 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.423+4543C>T single nucleotide variant not provided [RCV002982345] Chr7:156791846 [GRCh38]
Chr7:156584540 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.205G>A (p.Ala69Thr) single nucleotide variant Inborn genetic diseases [RCV002930534] Chr7:156826719 [GRCh38]
Chr7:156619413 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789385T>C single nucleotide variant Holoprosencephaly 3 [RCV002740986] Chr7:156789385 [GRCh38]
Chr7:156582079 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.787A>G (p.Met263Val) single nucleotide variant Inborn genetic diseases [RCV002873284] Chr7:156734228 [GRCh38]
Chr7:156526922 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.423+3575C>T single nucleotide variant not provided [RCV002575051] Chr7:156792814 [GRCh38]
Chr7:156585508 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+3706T>C single nucleotide variant not provided [RCV003042193] Chr7:156792683 [GRCh38]
Chr7:156585377 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+3908del deletion not provided [RCV002790569] Chr7:156792481 [GRCh38]
Chr7:156585175 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+3768A>G single nucleotide variant not provided [RCV002572374] Chr7:156792621 [GRCh38]
Chr7:156585315 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156796040T>C single nucleotide variant Holoprosencephaly 3 [RCV002853361] Chr7:156796040 [GRCh38]
Chr7:156588734 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.619+13C>G single nucleotide variant not provided [RCV003025683] Chr7:156763095 [GRCh38]
Chr7:156555789 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+5195G>C single nucleotide variant not provided [RCV002628000] Chr7:156791194 [GRCh38]
Chr7:156583888 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+5034A>G single nucleotide variant not provided [RCV003086332] Chr7:156791355 [GRCh38]
Chr7:156584049 [GRCh37]
Chr7:7q36.3		 likely benign
NM_030936.4(RNF32):c.1015G>A (p.Val339Met) single nucleotide variant not specified [RCV004081784] Chr7:156676581 [GRCh38]
Chr7:156469275 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156763943G>T single nucleotide variant Holoprosencephaly 3 [RCV002857479] Chr7:156763943 [GRCh38]
Chr7:156556637 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156764018T>C single nucleotide variant Holoprosencephaly 3 [RCV002856463] Chr7:156764018 [GRCh38]
Chr7:156556712 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_030936.4(RNF32):c.1071G>T (p.Lys357Asn) single nucleotide variant not specified [RCV004138469] Chr7:156676637 [GRCh38]
Chr7:156469331 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_030936.4(RNF32):c.805T>C (p.Cys269Arg) single nucleotide variant not specified [RCV004208045] Chr7:156675816 [GRCh38]
Chr7:156468510 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.423+4584T>C single nucleotide variant not provided [RCV002599045] Chr7:156791805 [GRCh38]
Chr7:156584499 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.1068-1G>A single nucleotide variant not provided [RCV002922213] Chr7:156725526 [GRCh38]
Chr7:156518220 [GRCh37]
Chr7:7q36.3		 likely pathogenic
NC_000007.14:g.156789436T>C single nucleotide variant Holoprosencephaly 3 [RCV002746473] Chr7:156789436 [GRCh38]
Chr7:156582130 [GRCh37]
Chr7:7q36.3		 likely benign
NM_030936.4(RNF32):c.922G>A (p.Val308Met) single nucleotide variant not specified [RCV004217805] Chr7:156676488 [GRCh38]
Chr7:156469182 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.697C>G (p.Leu233Val) single nucleotide variant not provided [RCV002633687] Chr7:156756453 [GRCh38]
Chr7:156549147 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.423+4768G>T single nucleotide variant not provided [RCV002606074] Chr7:156791621 [GRCh38]
Chr7:156584315 [GRCh37]
Chr7:7q36.3		 likely benign
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
NM_022458.4(LMBR1):c.423+5284C>T single nucleotide variant not provided [RCV003227103] Chr7:156791105 [GRCh38]
Chr7:156583799 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_030936.4(RNF32):c.754G>A (p.Asp252Asn) single nucleotide variant not specified [RCV004262937] Chr7:156675765 [GRCh38]
Chr7:156468459 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.655G>A (p.Val219Met) single nucleotide variant Inborn genetic diseases [RCV003265407] Chr7:156762163 [GRCh38]
Chr7:156554857 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1 copy number loss Holoprosencephaly 3 [RCV003327714] Chr7:154446117..159206757 [GRCh38]
Chr7:7q36.2-36.3		 pathogenic
NM_030936.4(RNF32):c.938G>A (p.Arg313His) single nucleotide variant not specified [RCV004340647] Chr7:156676504 [GRCh38]
Chr7:156469198 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1 copy number loss not provided [RCV003482991] Chr7:144940098..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 copy number loss not provided [RCV003482989] Chr7:142099013..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_022458.4(LMBR1):c.631G>A (p.Val211Ile) single nucleotide variant LMBR1-related disorder [RCV003408443] Chr7:156762187 [GRCh38]
Chr7:156554881 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.423+4844T>A single nucleotide variant LMBR1-related disorder [RCV003391618] Chr7:156791545 [GRCh38]
Chr7:156584239 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.758-2293G>C single nucleotide variant LMBR1-related disorder [RCV003397309] Chr7:156736550 [GRCh38]
Chr7:156529244 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.180_188delinsTGAACTGAGA (p.Leu61fs) indel LMBR1-related disorder [RCV003416797] Chr7:156826736..156826744 [GRCh38]
Chr7:156619430..156619438 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.423+5362C>T single nucleotide variant LMBR1-related disorder [RCV003400346] Chr7:156791027 [GRCh38]
Chr7:156583721 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.140-19A>G single nucleotide variant not provided [RCV003831626] Chr7:156833811 [GRCh38]
Chr7:156626505 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+4628G>A single nucleotide variant not provided [RCV003579332] Chr7:156791761 [GRCh38]
Chr7:156584455 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.1262G>C (p.Arg421Thr) single nucleotide variant not provided [RCV003578996] Chr7:156688155 [GRCh38]
Chr7:156480849 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156795971G>A single nucleotide variant Holoprosencephaly 3 [RCV003510540] Chr7:156795971 [GRCh38]
Chr7:156588665 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769206_156769207inv inversion Holoprosencephaly 3 [RCV003510588] Chr7:156769206..156769207 [GRCh38]
Chr7:156561900..156561901 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769204del deletion Holoprosencephaly 3 [RCV003510587] Chr7:156769203 [GRCh38]
Chr7:156561897 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.423+4831T>A single nucleotide variant not provided [RCV003545436] Chr7:156791558 [GRCh38]
Chr7:156584252 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+5285G>A single nucleotide variant not provided [RCV003878328] Chr7:156791104 [GRCh38]
Chr7:156583798 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+5068G>A single nucleotide variant not provided [RCV003697689] Chr7:156791321 [GRCh38]
Chr7:156584015 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.1068-8T>C single nucleotide variant not provided [RCV003717919] Chr7:156725533 [GRCh38]
Chr7:156518227 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+3537A>G single nucleotide variant not provided [RCV003811339] Chr7:156792852 [GRCh38]
Chr7:156585546 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.140-10A>C single nucleotide variant not provided [RCV003811378] Chr7:156833802 [GRCh38]
Chr7:156626496 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.145C>T (p.Gln49Ter) single nucleotide variant not provided [RCV003833553] Chr7:156833787 [GRCh38]
Chr7:156626481 [GRCh37]
Chr7:7q36.3		 pathogenic
NC_000007.14:g.156769301C>A single nucleotide variant Holoprosencephaly 3 [RCV003619230] Chr7:156769301 [GRCh38]
Chr7:156561995 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769187G>A single nucleotide variant Holoprosencephaly 3 [RCV003619235] Chr7:156769187 [GRCh38]
Chr7:156561881 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156779204T>C single nucleotide variant Holoprosencephaly 3 [RCV003619248] Chr7:156779204 [GRCh38]
Chr7:156571898 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789600G>A single nucleotide variant Holoprosencephaly 3 [RCV003619267] Chr7:156789600 [GRCh38]
Chr7:156582294 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769022A>C single nucleotide variant Holoprosencephaly 3 [RCV003619278] Chr7:156769022 [GRCh38]
Chr7:156561716 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156779521T>C single nucleotide variant Holoprosencephaly 3 [RCV003619299] Chr7:156779521 [GRCh38]
Chr7:156572215 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156779294C>A single nucleotide variant Holoprosencephaly 3 [RCV003620516] Chr7:156779294 [GRCh38]
Chr7:156571988 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156779240del deletion Holoprosencephaly 3 [RCV003619860] Chr7:156779240 [GRCh38]
Chr7:156571934 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769094C>G single nucleotide variant Holoprosencephaly 3 [RCV003619866] Chr7:156769094 [GRCh38]
Chr7:156561788 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156796255T>A single nucleotide variant Holoprosencephaly 3 [RCV003619380] Chr7:156796255 [GRCh38]
Chr7:156588949 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.423+5082T>G single nucleotide variant not provided [RCV003548076] Chr7:156791307 [GRCh38]
Chr7:156584001 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156796195TC[6] microsatellite Holoprosencephaly 3 [RCV003619936] Chr7:156796194..156796195 [GRCh38]
Chr7:156588888..156588889 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156763897A>G single nucleotide variant Holoprosencephaly 3 [RCV003620630] Chr7:156763897 [GRCh38]
Chr7:156556591 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156763928C>T single nucleotide variant Holoprosencephaly 3 [RCV003620646] Chr7:156763928 [GRCh38]
Chr7:156556622 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156796142C>A single nucleotide variant Holoprosencephaly 3 [RCV003619989] Chr7:156796142 [GRCh38]
Chr7:156588836 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156763947A>T single nucleotide variant Holoprosencephaly 3 [RCV003620650] Chr7:156763947 [GRCh38]
Chr7:156556641 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156796230G>A single nucleotide variant Holoprosencephaly 3 [RCV003620814] Chr7:156796230 [GRCh38]
Chr7:156588924 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156795955A>G single nucleotide variant Holoprosencephaly 3 [RCV003619891] Chr7:156795955 [GRCh38]
Chr7:156588649 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156796080T>C single nucleotide variant Holoprosencephaly 3 [RCV003620827] Chr7:156796080 [GRCh38]
Chr7:156588774 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.1159-15C>T single nucleotide variant not provided [RCV003835220] Chr7:156724193 [GRCh38]
Chr7:156516887 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156769103C>T single nucleotide variant Holoprosencephaly 3 [RCV003620103] Chr7:156769103 [GRCh38]
Chr7:156561797 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769101A>G single nucleotide variant Holoprosencephaly 3 [RCV003620135] Chr7:156769101 [GRCh38]
Chr7:156561795 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789696G>T single nucleotide variant Holoprosencephaly 3 [RCV003619306] Chr7:156789696 [GRCh38]
Chr7:156582390 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789644A>C single nucleotide variant Holoprosencephaly 3 [RCV003619317] Chr7:156789644 [GRCh38]
Chr7:156582338 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156764013A>T single nucleotide variant Holoprosencephaly 3 [RCV003619344] Chr7:156764013 [GRCh38]
Chr7:156556707 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156763944T>G single nucleotide variant Holoprosencephaly 3 [RCV003619355] Chr7:156763944 [GRCh38]
Chr7:156556638 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156795890A>G single nucleotide variant Holoprosencephaly 3 [RCV003619363] Chr7:156795890 [GRCh38]
Chr7:156588584 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156779292_156779295del deletion Holoprosencephaly 3 [RCV003619384] Chr7:156779292..156779295 [GRCh38]
Chr7:156571986..156571989 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156795993C>G single nucleotide variant Holoprosencephaly 3 [RCV003619400] Chr7:156795993 [GRCh38]
Chr7:156588687 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156796141T>C single nucleotide variant Holoprosencephaly 3 [RCV003619403] Chr7:156796141 [GRCh38]
Chr7:156588835 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156779374T>C single nucleotide variant Holoprosencephaly 3 [RCV003619215] Chr7:156779374 [GRCh38]
Chr7:156572068 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156796074C>A single nucleotide variant Holoprosencephaly 3 [RCV003619257] Chr7:156796074 [GRCh38]
Chr7:156588768 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769050G>A single nucleotide variant Holoprosencephaly 3 [RCV003619261] Chr7:156769050 [GRCh38]
Chr7:156561744 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156764204G>A single nucleotide variant Holoprosencephaly 3 [RCV003619266] Chr7:156764204 [GRCh38]
Chr7:156556898 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156779248A>C single nucleotide variant Holoprosencephaly 3 [RCV003619280] Chr7:156779248 [GRCh38]
Chr7:156571942 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769027_156769034del deletion Holoprosencephaly 3 [RCV003619281] Chr7:156769026..156769033 [GRCh38]
Chr7:156561720..156561727 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156795939T>C single nucleotide variant Holoprosencephaly 3 [RCV003620512] Chr7:156795939 [GRCh38]
Chr7:156588633 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156764178G>T single nucleotide variant Holoprosencephaly 3 [RCV003619303] Chr7:156764178 [GRCh38]
Chr7:156556872 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156764159T>C single nucleotide variant Holoprosencephaly 3 [RCV003620119] Chr7:156764159 [GRCh38]
Chr7:156556853 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156795976T>C single nucleotide variant Holoprosencephaly 3 [RCV003620528] Chr7:156795976 [GRCh38]
Chr7:156588670 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156764267C>T single nucleotide variant Holoprosencephaly 3 [RCV003619334] Chr7:156764267 [GRCh38]
Chr7:156556961 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769332C>T single nucleotide variant Holoprosencephaly 3 [RCV003620534] Chr7:156769332 [GRCh38]
Chr7:156562026 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789444C>G single nucleotide variant Holoprosencephaly 3 [RCV003619382] Chr7:156789444 [GRCh38]
Chr7:156582138 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769119C>T single nucleotide variant Holoprosencephaly 3 [RCV003619388] Chr7:156769119 [GRCh38]
Chr7:156561813 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156764191G>A single nucleotide variant Holoprosencephaly 3 [RCV003619393] Chr7:156764191 [GRCh38]
Chr7:156556885 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789649C>T single nucleotide variant Holoprosencephaly 3 [RCV003619410] Chr7:156789649 [GRCh38]
Chr7:156582343 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789388T>G single nucleotide variant Holoprosencephaly 3 [RCV003619282] Chr7:156789388 [GRCh38]
Chr7:156582082 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156796061C>T single nucleotide variant Holoprosencephaly 3 [RCV003619300] Chr7:156796061 [GRCh38]
Chr7:156588755 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769094C>T single nucleotide variant Holoprosencephaly 3 [RCV003619302] Chr7:156769094 [GRCh38]
Chr7:156561788 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156764050A>C single nucleotide variant Holoprosencephaly 3 [RCV003619291] Chr7:156764050 [GRCh38]
Chr7:156556744 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156795970G>C single nucleotide variant Holoprosencephaly 3 [RCV003619321] Chr7:156795970 [GRCh38]
Chr7:156588664 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156779534del deletion Holoprosencephaly 3 [RCV003619285] Chr7:156779532 [GRCh38]
Chr7:156572226 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156763955T>C single nucleotide variant Holoprosencephaly 3 [RCV003619325] Chr7:156763955 [GRCh38]
Chr7:156556649 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156763865T>C single nucleotide variant Holoprosencephaly 3 [RCV003619390] Chr7:156763865 [GRCh38]
Chr7:156556559 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769341G>A single nucleotide variant Holoprosencephaly 3 [RCV003619365] Chr7:156769341 [GRCh38]
Chr7:156562035 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789796C>T single nucleotide variant Holoprosencephaly 3 [RCV003619413] Chr7:156789796 [GRCh38]
Chr7:156582490 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.500T>C (p.Val167Ala) single nucleotide variant not provided [RCV003668879] Chr7:156763719 [GRCh38]
Chr7:156556413 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156779594T>C single nucleotide variant Holoprosencephaly 3 [RCV003619389] Chr7:156779594 [GRCh38]
Chr7:156572288 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769177C>A single nucleotide variant Holoprosencephaly 3 [RCV003619927] Chr7:156769177 [GRCh38]
Chr7:156561871 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156763931T>G single nucleotide variant Holoprosencephaly 3 [RCV003619959] Chr7:156763931 [GRCh38]
Chr7:156556625 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789611T>C single nucleotide variant Holoprosencephaly 3 [RCV003619938] Chr7:156789611 [GRCh38]
Chr7:156582305 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156779575T>C single nucleotide variant Holoprosencephaly 3 [RCV003619958] Chr7:156779575 [GRCh38]
Chr7:156572269 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789705T>C single nucleotide variant Holoprosencephaly 3 [RCV003620074] Chr7:156789705 [GRCh38]
Chr7:156582399 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789444C>T single nucleotide variant Holoprosencephaly 3 [RCV003620075] Chr7:156789444 [GRCh38]
Chr7:156582138 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769257C>T single nucleotide variant Holoprosencephaly 3 [RCV003619948] Chr7:156769257 [GRCh38]
Chr7:156561951 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156779556C>T single nucleotide variant Holoprosencephaly 3 [RCV003619898] Chr7:156779556 [GRCh38]
Chr7:156572250 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769446C>T single nucleotide variant Holoprosencephaly 3 [RCV003619232] Chr7:156769446 [GRCh38]
Chr7:156562140 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.156769404G>A single nucleotide variant Holoprosencephaly 3 [RCV003619236] Chr7:156769404 [GRCh38]
Chr7:156562098 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769436G>A single nucleotide variant Holoprosencephaly 3 [RCV003619238] Chr7:156769436 [GRCh38]
Chr7:156562130 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156779470G>A single nucleotide variant Holoprosencephaly 3 [RCV003619245] Chr7:156779470 [GRCh38]
Chr7:156572164 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156789555A>C single nucleotide variant Holoprosencephaly 3 [RCV003619246] Chr7:156789555 [GRCh38]
Chr7:156582249 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789543G>A single nucleotide variant Holoprosencephaly 3 [RCV003619247] Chr7:156789543 [GRCh38]
Chr7:156582237 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156764218T>A single nucleotide variant Holoprosencephaly 3 [RCV003619213] Chr7:156764218 [GRCh38]
Chr7:156556912 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789596T>C single nucleotide variant Holoprosencephaly 3 [RCV003619228] Chr7:156789596 [GRCh38]
Chr7:156582290 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156779210T>C single nucleotide variant Holoprosencephaly 3 [RCV003619167] Chr7:156779210 [GRCh38]
Chr7:156571904 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156764268G>T single nucleotide variant Holoprosencephaly 3 [RCV003619171] Chr7:156764268 [GRCh38]
Chr7:156556962 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769416C>A single nucleotide variant Holoprosencephaly 3 [RCV003619187] Chr7:156769416 [GRCh38]
Chr7:156562110 [GRCh37]
Chr7:7q36.3		 benign
NM_022458.4(LMBR1):c.423+3863G>C single nucleotide variant not provided [RCV003810967] Chr7:156792526 [GRCh38]
Chr7:156585220 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156796024C>T single nucleotide variant Holoprosencephaly 3 [RCV003619251] Chr7:156796024 [GRCh38]
Chr7:156588718 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156779204del deletion Holoprosencephaly 3 [RCV003619253] Chr7:156779204 [GRCh38]
Chr7:156571898 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789395_156789396del deletion Holoprosencephaly 3 [RCV003619260] Chr7:156789395..156789396 [GRCh38]
Chr7:156582089..156582090 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156789445G>A single nucleotide variant Holoprosencephaly 3 [RCV003621455] Chr7:156789445 [GRCh38]
Chr7:156582139 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.1061T>G (p.Leu354Trp) single nucleotide variant not provided [RCV003563987] Chr7:156725770 [GRCh38]
Chr7:156518464 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.620-20T>C single nucleotide variant not provided [RCV003857601] Chr7:156762218 [GRCh38]
Chr7:156554912 [GRCh37]
Chr7:7q36.3		 likely benign
GRCh37/hg19 7q36.3(chr7:155607058-159119707)x1 copy number loss not specified [RCV003986686] Chr7:155607058..159119707 [GRCh37]
Chr7:7q36.3		 pathogenic
NC_000007.14:g.156779376A>G single nucleotide variant Holoprosencephaly 3 [RCV003621410] Chr7:156779376 [GRCh38]
Chr7:156572070 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.916-2_916del deletion not provided [RCV003683732] Chr7:156728007..156728009 [GRCh38]
Chr7:156520701..156520703 [GRCh37]
Chr7:7q36.3		 likely pathogenic
NC_000007.14:g.156796109A>G single nucleotide variant Holoprosencephaly 3 [RCV003621168] Chr7:156796109 [GRCh38]
Chr7:156588803 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156779229T>C single nucleotide variant Holoprosencephaly 3 [RCV003621298] Chr7:156779229 [GRCh38]
Chr7:156571923 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156769464A>G single nucleotide variant Holoprosencephaly 3 [RCV003621382] Chr7:156769464 [GRCh38]
Chr7:156562158 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NC_000007.14:g.156769418A>G single nucleotide variant Holoprosencephaly 3 [RCV003621155] Chr7:156769418 [GRCh38]
Chr7:156562112 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.621G>A (p.Leu207=) single nucleotide variant not provided [RCV003565260] Chr7:156762197 [GRCh38]
Chr7:156554891 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+4800C>T single nucleotide variant not provided [RCV003845194] Chr7:156791589 [GRCh38]
Chr7:156584283 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156791034T>C single nucleotide variant SHH-related disorder [RCV004550899] Chr7:156791034 [GRCh38]
Chr7:156583728 [GRCh37]
Chr7:7q36.3		 likely benign
GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3 copy number gain See cases [RCV004442845] Chr7:141690279..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_030936.4(RNF32):c.1078C>T (p.Leu360Phe) single nucleotide variant not specified [RCV004446729] Chr7:156676644 [GRCh38]
Chr7:156469338 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_030936.4(RNF32):c.803A>T (p.Lys268Ile) single nucleotide variant not specified [RCV004446733] Chr7:156675814 [GRCh38]
Chr7:156468508 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_030936.4(RNF32):c.986C>T (p.Ala329Val) single nucleotide variant not specified [RCV004446736] Chr7:156676552 [GRCh38]
Chr7:156469246 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_030936.4(RNF32):c.689C>T (p.Thr230Ile) single nucleotide variant not specified [RCV004446732] Chr7:156675700 [GRCh38]
Chr7:156468394 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_030936.4(RNF32):c.953C>T (p.Ala318Val) single nucleotide variant not specified [RCV004446735] Chr7:156676519 [GRCh38]
Chr7:156469213 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+4023A>T single nucleotide variant LMBR1-related disorder [RCV003982773] Chr7:156792366 [GRCh38]
Chr7:156585060 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.423+4235G>T single nucleotide variant LMBR1-related disorder [RCV003959270] Chr7:156792154 [GRCh38]
Chr7:156584848 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156791462T>C single nucleotide variant SHH-related disorder [RCV004548794] Chr7:156791462 [GRCh38]
Chr7:156584156 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156791112T>C single nucleotide variant SHH-related disorder [RCV004548865] Chr7:156791112 [GRCh38]
Chr7:156583806 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156792767C>A single nucleotide variant SHH-related disorder [RCV004548774] Chr7:156792767 [GRCh38]
Chr7:156585461 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156792242T>C single nucleotide variant SHH-related disorder [RCV004552815] Chr7:156792242 [GRCh38]
Chr7:156584936 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.423+4149G>A single nucleotide variant LMBR1-related disorder [RCV003931414] Chr7:156792240 [GRCh38]
Chr7:156584934 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156791588T>C single nucleotide variant SHH-related disorder [RCV004554453] Chr7:156791588 [GRCh38]
Chr7:156584282 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156791184T>G single nucleotide variant SHH-related disorder [RCV004552721] Chr7:156791184 [GRCh38]
Chr7:156583878 [GRCh37]
Chr7:7q36.3		 likely benign
NM_022458.4(LMBR1):c.744G>C (p.Gln248His) single nucleotide variant Inborn genetic diseases [RCV004407576] Chr7:156756406 [GRCh38]
Chr7:156549100 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.833A>G (p.Lys278Arg) single nucleotide variant Inborn genetic diseases [RCV004407577] Chr7:156734182 [GRCh38]
Chr7:156526876 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156791548G>C single nucleotide variant Polydactyly of a triphalangeal thumb [RCV003985053] Chr7:156791548 [GRCh38]
Chr7:156584242 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_022458.4(LMBR1):c.61T>C (p.Ser21Pro) single nucleotide variant Inborn genetic diseases [RCV004637194] Chr7:156892933 [GRCh38]
Chr7:156685627 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.860C>T (p.Ala287Val) single nucleotide variant Inborn genetic diseases [RCV004634027] Chr7:156728699 [GRCh38]
Chr7:156521393 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.1291G>A (p.Val431Ile) single nucleotide variant Inborn genetic diseases [RCV004637193] Chr7:156688126 [GRCh38]
Chr7:156480820 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.928C>G (p.Leu310Val) single nucleotide variant Inborn genetic diseases [RCV004637189] Chr7:156727995 [GRCh38]
Chr7:156520689 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.67A>G (p.Ile23Val) single nucleotide variant Inborn genetic diseases [RCV004637190] Chr7:156836885 [GRCh38]
Chr7:156629579 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_030936.4(RNF32):c.860G>A (p.Arg287His) single nucleotide variant not specified [RCV004672152] Chr7:156676426 [GRCh38]
Chr7:156469120 [GRCh37]
Chr7:7q36.3		 likely benign
NM_030936.4(RNF32):c.695T>C (p.Ile232Thr) single nucleotide variant not specified [RCV004672153] Chr7:156675706 [GRCh38]
Chr7:156468400 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.13:g.(?_156583771)_(156589206_?)dup duplication not provided [RCV004578572] Chr7:156583771..156589206 [GRCh37]
Chr7:7q36.3		 likely pathogenic
NM_022458.4(LMBR1):c.423+5055G>T single nucleotide variant LMBR1-related disorder [RCV004743868] Chr7:156791334 [GRCh38]
Chr7:156584028 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.517G>A (p.Asp173Asn) single nucleotide variant LMBR1-related disorder [RCV004729835] Chr7:156763702 [GRCh38]
Chr7:156556396 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156791257G>A single nucleotide variant Polydactyly of a triphalangeal thumb [RCV004720570] Chr7:156791257 [GRCh38]
Chr7:156583951 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_022458.4(LMBR1):c.423+4917G>T single nucleotide variant not specified [RCV004766752] Chr7:156791472 [GRCh38]
Chr7:156584166 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_022458.4(LMBR1):c.423+4584_423+4593dup duplication LMBR1-related disorder [RCV004726291] Chr7:156791795..156791796 [GRCh38]
Chr7:156584489..156584490 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156791471A>G single nucleotide variant SHH-related disorder [RCV004727957] Chr7:156791471 [GRCh38]
Chr7:156584165 [GRCh37]
Chr7:7q36.3		 likely pathogenic
NM_022458.4(LMBR1):c.423+4260T>C single nucleotide variant LMBR1-related disorder [RCV004745014] Chr7:156792129 [GRCh38]
Chr7:156584823 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.14:g.156791418G>A single nucleotide variant SHH-related disorder [RCV004737101] Chr7:156791418 [GRCh38]
Chr7:156584112 [GRCh37]
Chr7:7q36.3		 likely benign
NC_000007.14:g.156791417G>A single nucleotide variant SHH-related disorder [RCV004737623] Chr7:156791417 [GRCh38]
Chr7:156584111 [GRCh37]
Chr7:7q36.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8314
Count of miRNA genes:1400
Interacting mature miRNAs:1797
Transcripts:ENST00000353442, ENST00000354505, ENST00000359422, ENST00000414218, ENST00000415428, ENST00000430278, ENST00000433968, ENST00000434278, ENST00000434453, ENST00000434503, ENST00000444719, ENST00000448926, ENST00000454132, ENST00000461469, ENST00000461603, ENST00000477983, ENST00000485985, ENST00000486837, ENST00000498034, ENST00000540390, ENST00000609081, ENST00000609774
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559221SCL67_HSerum cholesterol level QTL 67 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
1578618SCL127_HSerum cholesterol level QTL 127 (human)3.7Lipid leveltriglyceride7141776251159345973Human
1559218SCL69_HSerum cholesterol level QTL 69 (human)3.410.002Lipid leveltriglyceride7141776251159345973Human
1559263SCL72_HSerum cholesterol level QTL 72 (human)3.25Lipid leveltriglyceride7141776251159345973Human
597070686GWAS1166760_HBMI-adjusted hip circumference QTL GWAS1166760 (human)0.0000006BMI-adjusted hip circumferencehip circumference (CMO:0000014)7156726738156726739Human
1578610SCL128_HSerum cholesterol level QTL 128 (human)2.2Lipid levelLDL cholesterol7141776251159345973Human
597141308GWAS1237382_Halpha-hydroxyisovalerate measurement QTL GWAS1237382 (human)0.000006alpha-hydroxyisovalerate measurement7156832608156832609Human
597234903GWAS1330977_Hbrain measurement QTL GWAS1330977 (human)9e-09brain measurementbrain measurement (CMO:0000911)7156840021156840022Human
597135224GWAS1231298_Hdiastolic blood pressure QTL GWAS1231298 (human)2e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)7156789346156789347Human
597206295GWAS1302369_Hinterleukin 10 measurement QTL GWAS1302369 (human)5e-09interleukin 10 measurement7156885356156885357Human
1559237SCL70_HSerum cholesterol level QTL 70 (human)3.520.002Lipid leveltriglyceride7141776251159345973Human
597192875GWAS1288949_Hsystolic blood pressure QTL GWAS1288949 (human)0.000008systolic blood pressuresystolic blood pressure (CMO:0000004)7156789346156789347Human
407306739GWAS955715_Hlymphocyte count QTL GWAS955715 (human)9e-12lymphocyte countblood lymphocyte count (CMO:0000031)7156803304156803305Human
1559232SCL66_HSerum cholesterol level QTL 66 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
1559264SCL68_HSerum cholesterol level QTL 68 (human)3.10.002Lipid leveltriglyceride7141776251159345973Human
1559213SCL71_HSerum cholesterol level QTL 71 (human)3.46Lipid leveltriglyceride7141776251159345973Human
597082285GWAS1178359_Hlymphocyte percentage of leukocytes QTL GWAS1178359 (human)1e-09lymphocyte percentage of leukocytesblood lymphocyte count to total leukocyte count ratio (CMO:0000371)7156837170156837172Human
597295271GWAS1391345_Hglomerular filtration rate QTL GWAS1391345 (human)3e-09glomerular filtration rateglomerular filtration rate (CMO:0000490)7156726115156726116Human
597325575GWAS1421649_Hcolor vision disorder QTL GWAS1421649 (human)7e-08color vision disorder7156884949156884950Human

Markers in Region
D7S559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,473,125 - 156,473,199UniSTSGRCh37
GRCh377156,472,993 - 156,473,187UniSTSGRCh37
Build 367156,165,886 - 156,165,960RGDNCBI36
Celera7150,900,186 - 150,900,388UniSTS
Celera7150,900,326 - 150,900,400RGD
Cytogenetic Map7q36UniSTS
HuRef7150,205,825 - 150,206,027UniSTS
HuRef7150,205,965 - 150,206,039UniSTS
CRA_TCAGchr7v27155,702,380 - 155,702,582UniSTS
CRA_TCAGchr7v27155,702,520 - 155,702,594UniSTS
Marshfield Genetic Map7181.97RGD
deCODE Assembly Map7182.96UniSTS
SHGC-57287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,476,002 - 156,476,141UniSTSGRCh37
Build 367156,168,763 - 156,168,902RGDNCBI36
Celera7150,903,203 - 150,903,342RGD
Cytogenetic Map7q36UniSTS
HuRef7150,208,842 - 150,208,981UniSTS
CRA_TCAGchr7v27155,705,397 - 155,705,536UniSTS
TNG Radiation Hybrid Map772460.0UniSTS
SHGC-30207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,476,339 - 156,476,488UniSTSGRCh37
Build 367156,169,100 - 156,169,249RGDNCBI36
Celera7150,903,540 - 150,903,689RGD
Cytogenetic Map7q36UniSTS
HuRef7150,209,179 - 150,209,328UniSTS
CRA_TCAGchr7v27155,705,734 - 155,705,883UniSTS
TNG Radiation Hybrid Map772492.0UniSTS
Stanford-G3 RH Map78085.0UniSTS
GeneMap99-GB4 RH Map7680.25UniSTS
Whitehead-RH Map7652.8UniSTS
NCBI RH Map71518.6UniSTS
GeneMap99-G3 RH Map78628.0UniSTS
GDB:1318256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,186,349 - 137,187,700UniSTSGRCh37
GRCh377156,500,775 - 156,500,937UniSTSGRCh37
Build 367156,193,536 - 156,193,698RGDNCBI36
CeleraX137,552,340 - 137,553,691UniSTS
Celera7150,927,976 - 150,928,138RGD
Cytogenetic Map7q36UniSTS
HuRef7150,233,612 - 150,233,774UniSTS
HuRefX126,454,750 - 126,456,101UniSTS
CRA_TCAGchr7v27155,730,172 - 155,730,334UniSTS
RH92221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,610,613 - 156,610,772UniSTSGRCh37
Build 367156,303,374 - 156,303,533RGDNCBI36
Celera7151,037,818 - 151,037,977RGD
Cytogenetic Map7q36UniSTS
HuRef7150,343,360 - 150,343,519UniSTS
CRA_TCAGchr7v27155,840,017 - 155,840,176UniSTS
GeneMap99-GB4 RH Map7681.93UniSTS
RH98325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,475,116 - 156,475,293UniSTSGRCh37
Build 367156,167,877 - 156,168,054RGDNCBI36
Celera7150,902,317 - 150,902,494RGD
Cytogenetic Map7q36UniSTS
HuRef7150,207,956 - 150,208,133UniSTS
CRA_TCAGchr7v27155,704,511 - 155,704,688UniSTS
GeneMap99-GB4 RH Map7681.93UniSTS
SHGC-53202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,475,645 - 156,475,858UniSTSGRCh37
Build 367156,168,406 - 156,168,619RGDNCBI36
Celera7150,902,846 - 150,903,059RGD
Cytogenetic Map7q36UniSTS
HuRef7150,208,485 - 150,208,698UniSTS
CRA_TCAGchr7v27155,705,040 - 155,705,253UniSTS
G44324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,474,244 - 156,474,371UniSTSGRCh37
Build 367156,167,005 - 156,167,132RGDNCBI36
Celera7150,901,445 - 150,901,572RGD
Cytogenetic Map7q36UniSTS
HuRef7150,207,084 - 150,207,211UniSTS
CRA_TCAGchr7v27155,703,639 - 155,703,766UniSTS
SHGC-82247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,587,655 - 156,587,974UniSTSGRCh37
Build 367156,280,416 - 156,280,735RGDNCBI36
Celera7151,014,860 - 151,015,179RGD
Cytogenetic Map7q36UniSTS
HuRef7150,320,420 - 150,320,739UniSTS
CRA_TCAGchr7v27155,817,059 - 155,817,378UniSTS
TNG Radiation Hybrid Map772526.0UniSTS
D7S2138E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,537,340 - 156,537,480UniSTSGRCh37
Build 367156,230,101 - 156,230,241RGDNCBI36
Celera7150,964,546 - 150,964,686RGD
Cytogenetic Map7q36UniSTS
HuRef7150,270,180 - 150,270,320UniSTS
CRA_TCAGchr7v27155,766,745 - 155,766,885UniSTS
D7S3164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,517,783 - 156,517,866UniSTSGRCh37
Build 367156,210,544 - 156,210,627RGDNCBI36
Celera7150,944,986 - 150,945,069RGD
Cytogenetic Map7q36UniSTS
HuRef7150,250,620 - 150,250,703UniSTS
CRA_TCAGchr7v27155,747,185 - 155,747,268UniSTS
D7S3159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371274,410,200 - 74,411,473UniSTSGRCh37
GRCh377156,683,811 - 156,684,019UniSTSGRCh37
Build 367156,376,572 - 156,376,780RGDNCBI36
Celera1274,075,436 - 74,076,709UniSTS
Celera7151,111,016 - 151,111,224RGD
Cytogenetic Map7q36UniSTS
HuRef7150,416,557 - 150,416,764UniSTS
HuRef1271,459,335 - 71,460,608UniSTS
CRA_TCAGchr7v27155,913,214 - 155,913,422UniSTS
D7S2078E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,473,615 - 156,473,775UniSTSGRCh37
Build 367156,166,376 - 156,166,536RGDNCBI36
Celera7150,900,816 - 150,900,976RGD
Cytogenetic Map7q36UniSTS
HuRef7150,206,455 - 150,206,615UniSTS
CRA_TCAGchr7v27155,703,010 - 155,703,170UniSTS
GeneMap99-GB4 RH Map7681.93UniSTS
SHGC-36739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,475,655 - 156,475,781UniSTSGRCh37
Build 367156,168,416 - 156,168,542RGDNCBI36
Celera7150,902,856 - 150,902,982RGD
Cytogenetic Map7q36UniSTS
HuRef7150,208,495 - 150,208,621UniSTS
CRA_TCAGchr7v27155,705,050 - 155,705,176UniSTS
TNG Radiation Hybrid Map772492.0UniSTS
GeneMap99-GB4 RH Map7681.93UniSTS
Whitehead-RH Map7654.2UniSTS
NCBI RH Map71518.6UniSTS
GeneMap99-G3 RH Map78597.0UniSTS
D7S2112E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,474,373 - 156,474,476UniSTSGRCh37
Build 367156,167,134 - 156,167,237RGDNCBI36
Celera7150,901,574 - 150,901,677RGD
Cytogenetic Map7q36UniSTS
HuRef7150,207,213 - 150,207,316UniSTS
CRA_TCAGchr7v27155,703,768 - 155,703,871UniSTS
TNG Radiation Hybrid Map772492.0UniSTS
Stanford-G3 RH Map78035.0UniSTS
NCBI RH Map71531.7UniSTS
GeneMap99-G3 RH Map78578.0UniSTS
GDB:1317756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,473,615 - 156,473,775UniSTSGRCh37
Build 367156,166,376 - 156,166,536RGDNCBI36
Celera7150,900,816 - 150,900,976RGD
Cytogenetic Map7q36UniSTS
HuRef7150,206,455 - 150,206,615UniSTS
CRA_TCAGchr7v27155,703,010 - 155,703,170UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_428185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF063592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF348513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF402318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA238712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EB388873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H18430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000353442   ⟹   ENSP00000326604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,677,791 - 156,893,183 (-)Ensembl
Ensembl Acc Id: ENST00000359422   ⟹   ENSP00000352392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,680,877 - 156,893,208 (-)Ensembl
Ensembl Acc Id: ENST00000414218   ⟹   ENSP00000392557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,796,474 - 156,893,179 (-)Ensembl
Ensembl Acc Id: ENST00000415428   ⟹   ENSP00000408256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,682,211 - 156,892,987 (-)Ensembl
Ensembl Acc Id: ENST00000430278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,763,110 - 156,893,183 (-)Ensembl
Ensembl Acc Id: ENST00000430825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,668,946 - 156,682,093 (-)Ensembl
Ensembl Acc Id: ENST00000433968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,826,634 - 156,893,183 (-)Ensembl
Ensembl Acc Id: ENST00000434278   ⟹   ENSP00000413539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,763,125 - 156,893,182 (-)Ensembl
Ensembl Acc Id: ENST00000434453   ⟹   ENSP00000397698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,822,241 - 156,893,216 (-)Ensembl
Ensembl Acc Id: ENST00000434503   ⟹   ENSP00000395754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,688,098 - 156,893,208 (-)Ensembl
Ensembl Acc Id: ENST00000444719   ⟹   ENSP00000393928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,763,143 - 156,893,157 (-)Ensembl
Ensembl Acc Id: ENST00000448926   ⟹   ENSP00000403052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,681,520 - 156,796,493 (-)Ensembl
Ensembl Acc Id: ENST00000454132   ⟹   ENSP00000414795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,682,991 - 156,893,159 (-)Ensembl
Ensembl Acc Id: ENST00000461469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,763,703 - 156,892,579 (-)Ensembl
Ensembl Acc Id: ENST00000461603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,688,103 - 156,747,978 (-)Ensembl
Ensembl Acc Id: ENST00000477983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,733,861 - 156,763,177 (-)Ensembl
Ensembl Acc Id: ENST00000485985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,833,478 - 156,893,183 (-)Ensembl
Ensembl Acc Id: ENST00000486837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,688,114 - 156,726,103 (-)Ensembl
Ensembl Acc Id: ENST00000498034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,826,599 - 156,892,590 (-)Ensembl
Ensembl Acc Id: ENST00000609081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,676,251 - 156,679,109 (-)Ensembl
Ensembl Acc Id: ENST00000609774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,677,843 - 156,679,133 (-)Ensembl
Ensembl Acc Id: ENST00000638959   ⟹   ENSP00000492304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,834,576 - 156,836,885 (-)Ensembl
Ensembl Acc Id: ENST00000650699   ⟹   ENSP00000498334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,681,521 - 156,796,493 (-)Ensembl
RefSeq Acc Id: NM_001350953   ⟹   NP_001337882
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,677,791 - 156,893,183 (-)NCBI
T2T-CHM13v2.07157,865,504 - 158,080,951 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350954   ⟹   NP_001337883
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,677,791 - 156,893,183 (-)NCBI
T2T-CHM13v2.07157,865,504 - 158,080,951 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350955   ⟹   NP_001337884
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,677,791 - 156,893,183 (-)NCBI
T2T-CHM13v2.07157,865,504 - 158,080,951 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350956   ⟹   NP_001337885
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,677,791 - 156,893,183 (-)NCBI
T2T-CHM13v2.07157,865,504 - 158,080,951 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350957   ⟹   NP_001337886
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,677,791 - 156,893,183 (-)NCBI
T2T-CHM13v2.07157,865,504 - 158,080,951 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350958   ⟹   NP_001337887
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,677,791 - 156,893,183 (-)NCBI
T2T-CHM13v2.07157,865,504 - 158,080,951 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363409   ⟹   NP_001350338
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,677,791 - 156,893,183 (-)NCBI
T2T-CHM13v2.07157,865,504 - 158,080,951 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363410   ⟹   NP_001350339
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,677,791 - 156,893,183 (-)NCBI
T2T-CHM13v2.07157,865,504 - 158,080,951 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363411   ⟹   NP_001350340
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,677,791 - 156,893,183 (-)NCBI
T2T-CHM13v2.07157,865,504 - 158,080,951 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363412   ⟹   NP_001350341
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,677,791 - 156,893,183 (-)NCBI
T2T-CHM13v2.07157,865,504 - 158,080,951 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363413   ⟹   NP_001350342
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,677,791 - 156,893,183 (-)NCBI
T2T-CHM13v2.07157,865,504 - 158,080,951 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022458   ⟹   NP_071903
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,677,791 - 156,893,183 (-)NCBI
GRCh377156,470,537 - 156,685,902 (-)NCBI
Build 367156,166,331 - 156,378,663 (-)NCBI Archive
HuRef7150,206,410 - 150,418,614 (-)ENTREZGENE
CHM1_17156,482,285 - 156,694,637 (-)NCBI
T2T-CHM13v2.07157,865,504 - 158,080,951 (-)NCBI
CRA_TCAGchr7v27155,702,965 - 155,915,305 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_146958
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,677,791 - 156,893,183 (-)NCBI
T2T-CHM13v2.07157,865,504 - 158,080,951 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146959
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,669,012 - 156,893,183 (-)NCBI
T2T-CHM13v2.07157,856,727 - 158,080,951 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005249558   ⟹   XP_005249615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,679,077 - 156,893,183 (-)NCBI
GRCh377156,470,537 - 156,685,902 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012515   ⟹   XP_016868004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,679,077 - 156,893,183 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420703   ⟹   XP_047276659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,679,077 - 156,893,183 (-)NCBI
RefSeq Acc Id: XM_047420704   ⟹   XP_047276660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,688,080 - 156,893,183 (-)NCBI
RefSeq Acc Id: XM_047420705   ⟹   XP_047276661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,688,080 - 156,893,183 (-)NCBI
RefSeq Acc Id: XM_047420706   ⟹   XP_047276662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,688,080 - 156,893,183 (-)NCBI
RefSeq Acc Id: XM_054358789   ⟹   XP_054214764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07157,866,790 - 158,080,951 (-)NCBI
RefSeq Acc Id: XM_054358790   ⟹   XP_054214765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07157,875,800 - 158,080,951 (-)NCBI
RefSeq Acc Id: XM_054358791   ⟹   XP_054214766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07157,875,800 - 158,080,951 (-)NCBI
RefSeq Acc Id: XM_054358792   ⟹   XP_054214767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07157,875,800 - 158,080,951 (-)NCBI
RefSeq Acc Id: XR_007060130
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,669,012 - 156,893,183 (-)NCBI
RefSeq Acc Id: XR_007060131
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,669,012 - 156,893,183 (-)NCBI
RefSeq Acc Id: XR_007060132
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,669,012 - 156,893,183 (-)NCBI
RefSeq Acc Id: XR_007060133
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,669,012 - 156,893,183 (-)NCBI
RefSeq Acc Id: XR_007060134
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,669,012 - 156,893,183 (-)NCBI
RefSeq Acc Id: XR_007060135
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,669,012 - 156,893,183 (-)NCBI
RefSeq Acc Id: XR_007060136
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,669,012 - 156,893,183 (-)NCBI
RefSeq Acc Id: XR_007060137
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,669,012 - 156,893,183 (-)NCBI
RefSeq Acc Id: XR_008487728
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07157,856,727 - 158,080,951 (-)NCBI
RefSeq Acc Id: XR_008487729
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07157,856,727 - 158,080,951 (-)NCBI
RefSeq Acc Id: XR_008487730
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07157,856,727 - 158,080,951 (-)NCBI
RefSeq Acc Id: XR_008487731
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07157,856,727 - 158,080,951 (-)NCBI
RefSeq Acc Id: XR_008487732
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07157,856,727 - 158,080,951 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001337882 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337883 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337884 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337885 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337886 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337887 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350338 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350339 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350340 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350341 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350342 (Get FASTA)   NCBI Sequence Viewer  
  NP_071903 (Get FASTA)   NCBI Sequence Viewer  
  XP_005249615 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868004 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276659 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276660 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276661 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276662 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214764 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214765 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214766 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214767 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD43188 (Get FASTA)   NCBI Sequence Viewer  
  AAF03516 (Get FASTA)   NCBI Sequence Viewer  
  AAG43151 (Get FASTA)   NCBI Sequence Viewer  
  AAH17663 (Get FASTA)   NCBI Sequence Viewer  
  AAK31345 (Get FASTA)   NCBI Sequence Viewer  
  AAK94061 (Get FASTA)   NCBI Sequence Viewer  
  AAS00382 (Get FASTA)   NCBI Sequence Viewer  
  BAB13880 (Get FASTA)   NCBI Sequence Viewer  
  BAB15595 (Get FASTA)   NCBI Sequence Viewer  
  BAF83726 (Get FASTA)   NCBI Sequence Viewer  
  BAH13119 (Get FASTA)   NCBI Sequence Viewer  
  CAD38789 (Get FASTA)   NCBI Sequence Viewer  
  CAD39056 (Get FASTA)   NCBI Sequence Viewer  
  EAL23920 (Get FASTA)   NCBI Sequence Viewer  
  EAX04559 (Get FASTA)   NCBI Sequence Viewer  
  EAX04560 (Get FASTA)   NCBI Sequence Viewer  
  EAX04561 (Get FASTA)   NCBI Sequence Viewer  
  EAX04562 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000326604
  ENSP00000326604.7
  ENSP00000392557.1
  ENSP00000393928.1
  ENSP00000395754.1
  ENSP00000397698.1
  ENSP00000403052.1
  ENSP00000408256
  ENSP00000408256.1
  ENSP00000413539.1
  ENSP00000414795.1
GenBank Protein Q8WVP7 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_071903   ⟸   NM_022458
- Peptide Label: isoform b
- UniProtKB: Q8WVP7 (UniProtKB/Swiss-Prot),   Q9UDN5 (UniProtKB/Swiss-Prot),   Q9HAG9 (UniProtKB/Swiss-Prot),   Q9H5N0 (UniProtKB/Swiss-Prot),   Q96QZ5 (UniProtKB/Swiss-Prot),   Q8N3E3 (UniProtKB/Swiss-Prot),   A4D242 (UniProtKB/Swiss-Prot),   Q9Y6U2 (UniProtKB/Swiss-Prot),   A8K4S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249615   ⟸   XM_005249558
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016868004   ⟸   XM_017012515
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001337883   ⟸   NM_001350954
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001337882   ⟸   NM_001350953
- Peptide Label: isoform a
- UniProtKB: H0Y6V6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337887   ⟸   NM_001350958
- Peptide Label: isoform f
- UniProtKB: Q8NDP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337885   ⟸   NM_001350956
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001337886   ⟸   NM_001350957
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001337884   ⟸   NM_001350955
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001350341   ⟸   NM_001363412
- Peptide Label: isoform j
- UniProtKB: B7Z633 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350339   ⟸   NM_001363410
- Peptide Label: isoform h
- UniProtKB: A8K4S2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350338   ⟸   NM_001363409
- Peptide Label: isoform g
- UniProtKB: H0Y6V6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350340   ⟸   NM_001363411
- Peptide Label: isoform i
RefSeq Acc Id: NP_001350342   ⟸   NM_001363413
- Peptide Label: isoform d
Ensembl Acc Id: ENSP00000352392   ⟸   ENST00000359422
Ensembl Acc Id: ENSP00000492304   ⟸   ENST00000638959
Ensembl Acc Id: ENSP00000392557   ⟸   ENST00000414218
Ensembl Acc Id: ENSP00000498334   ⟸   ENST00000650699
Ensembl Acc Id: ENSP00000408256   ⟸   ENST00000415428
Ensembl Acc Id: ENSP00000414795   ⟸   ENST00000454132
Ensembl Acc Id: ENSP00000393928   ⟸   ENST00000444719
Ensembl Acc Id: ENSP00000326604   ⟸   ENST00000353442
Ensembl Acc Id: ENSP00000395754   ⟸   ENST00000434503
Ensembl Acc Id: ENSP00000403052   ⟸   ENST00000448926
Ensembl Acc Id: ENSP00000397698   ⟸   ENST00000434453
Ensembl Acc Id: ENSP00000413539   ⟸   ENST00000434278
RefSeq Acc Id: XP_047276659   ⟸   XM_047420703
- Peptide Label: isoform X1
- UniProtKB: A8K4S2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276661   ⟸   XM_047420705
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047276660   ⟸   XM_047420704
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047276662   ⟸   XM_047420706
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054214764   ⟸   XM_054358789
- Peptide Label: isoform X1
- UniProtKB: A8K4S2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214766   ⟸   XM_054358791
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054214765   ⟸   XM_054358790
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054214767   ⟸   XM_054358792
- Peptide Label: isoform X4

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WVP7-F1-model_v2 AlphaFold Q8WVP7 1-490 view protein structure

Promoters
RGD ID:6805877
Promoter ID:HG_KWN:60440
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000316198,   ENST00000347571,   ENST00000359422,   OTTHUMT00000347939,   OTTHUMT00000347940,   OTTHUMT00000348014,   OTTHUMT00000348015,   OTTHUMT00000348016,   OTTHUMT00000348017,   OTTHUMT00000348018,   OTTHUMT00000348019,   OTTHUMT00000348020,   OTTHUMT00000348021,   OTTHUMT00000348022,   UC003WMX.2,   UC010LQN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367156,377,931 - 156,379,067 (-)MPROMDB
RGD ID:7212441
Promoter ID:EPDNEW_H11967
Type:initiation region
Name:LMBR1_1
Description:limb development membrane protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387156,893,179 - 156,893,239EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13243 AgrOrtholog
COSMIC LMBR1 COSMIC
Ensembl Genes ENSG00000105983 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000353442 ENTREZGENE
  ENST00000353442.10 UniProtKB/Swiss-Prot
  ENST00000414218.1 UniProtKB/TrEMBL
  ENST00000415428 ENTREZGENE
  ENST00000415428.5 UniProtKB/TrEMBL
  ENST00000434278.5 UniProtKB/TrEMBL
  ENST00000434453.1 UniProtKB/TrEMBL
  ENST00000434503.5 UniProtKB/TrEMBL
  ENST00000444719.5 UniProtKB/TrEMBL
  ENST00000448926.5 UniProtKB/TrEMBL
  ENST00000454132.5 UniProtKB/TrEMBL
GTEx ENSG00000105983 GTEx
HGNC ID HGNC:13243 ENTREZGENE
Human Proteome Map LMBR1 Human Proteome Map
InterPro LIMR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LMBR1-like_membr_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64327 UniProtKB/Swiss-Prot
NCBI Gene 64327 ENTREZGENE
OMIM 605522 OMIM
PANTHER LIMB REGION 1 PROTEIN HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12625 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LMBR1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25945 PharmGKB
PRINTS LIPOCALINIMR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D242 ENTREZGENE
  A8K4S2 ENTREZGENE, UniProtKB/TrEMBL
  B7Z633 ENTREZGENE, UniProtKB/TrEMBL
  F2Z2Z3_HUMAN UniProtKB/TrEMBL
  F8WB14_HUMAN UniProtKB/TrEMBL
  F8WCL1_HUMAN UniProtKB/TrEMBL
  F8WDW0_HUMAN UniProtKB/TrEMBL
  F8WEK4_HUMAN UniProtKB/TrEMBL
  F8WEN8_HUMAN UniProtKB/TrEMBL
  H0Y6V6 ENTREZGENE, UniProtKB/TrEMBL
  H7C1Y4_HUMAN UniProtKB/TrEMBL
  LMBR1_HUMAN UniProtKB/Swiss-Prot
  Q8N3E3 ENTREZGENE
  Q8NDP7 ENTREZGENE, UniProtKB/TrEMBL
  Q8WVP7 ENTREZGENE
  Q96QZ5 ENTREZGENE
  Q9H5N0 ENTREZGENE
  Q9HAG9 ENTREZGENE
  Q9UDN5 ENTREZGENE
  Q9Y6U2 ENTREZGENE
UniProt Secondary A4D242 UniProtKB/Swiss-Prot
  Q8N3E3 UniProtKB/Swiss-Prot
  Q96QZ5 UniProtKB/Swiss-Prot
  Q9H5N0 UniProtKB/Swiss-Prot
  Q9HAG9 UniProtKB/Swiss-Prot
  Q9UDN5 UniProtKB/Swiss-Prot
  Q9Y6U2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-08-13 LMBR1  limb development membrane protein 1  LMBR1  limb region 1 homolog (mouse)  Symbol and/or name change 5135510 APPROVED