BLTP1 (bridge-like lipid transfer protein family member 1) - Rat Genome Database

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Gene: BLTP1 (bridge-like lipid transfer protein family member 1) Homo sapiens
Analyze
Symbol: BLTP1
Name: bridge-like lipid transfer protein family member 1
RGD ID: 1344341
HGNC Page HGNC:26953
Description: Predicted to enable phosphatidylethanolamine transfer activity. Involved in endocytic recycling and phagocytosis. Predicted to be located in endoplasmic reticulum-plasma membrane contact site. Implicated in Alkuraya-Kucinskas syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALKKUCS; DKFZp781P0474; fragile site-associated protein; FSA; KIAA1109; KIAA1109; MGC110967; transmembrane protein KIAA1109; Tweek; uncharacterized protein KIAA1109
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
GRCh384122,152,331 - 122,362,752 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4122,152,331 - 122,364,167 (+)EnsemblGRCh38hg38GRCh38
GRCh374123,073,486 - 123,283,907 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364123,311,208 - 123,503,357 (+)NCBINCBI36Build 36hg18NCBI36
Celera4120,475,353 - 120,667,340 (+)NCBICelera
Cytogenetic Map4q27NCBI
HuRef4118,818,167 - 119,010,362 (+)NCBIHuRef
CHM1_14123,068,234 - 123,260,401 (+)NCBICHM1_1
T2T-CHM13v2.04125,456,397 - 125,666,898 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8125298   PMID:10470851   PMID:10718198   PMID:14702039   PMID:16386706   PMID:16545529   PMID:16632497   PMID:17190194   PMID:17554300   PMID:17558408   PMID:17999365   PMID:18311140  
PMID:18418394   PMID:18840430   PMID:19061490   PMID:19302705   PMID:19430480   PMID:19455118   PMID:19640479   PMID:20190752   PMID:20195357   PMID:20197757   PMID:20453842   PMID:20553587  
PMID:21873635   PMID:22876110   PMID:23128233   PMID:23686814   PMID:23817571   PMID:24999842   PMID:25037274   PMID:25798074   PMID:26485645   PMID:26496610   PMID:26841866   PMID:27609421  
PMID:28611215   PMID:29290337   PMID:29507755   PMID:30021884   PMID:30552067   PMID:30575818   PMID:30639242   PMID:30906834   PMID:31540829   PMID:31736083   PMID:31871319   PMID:32590954  
PMID:32657846   PMID:32788342   PMID:33961781   PMID:34349018   PMID:35015055   PMID:35491307   PMID:36543142   PMID:37071682   PMID:37689310   PMID:37788672   PMID:39358380  


Genomics

Comparative Map Data
BLTP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384122,152,331 - 122,362,752 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4122,152,331 - 122,364,167 (+)EnsemblGRCh38hg38GRCh38
GRCh374123,073,486 - 123,283,907 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364123,311,208 - 123,503,357 (+)NCBINCBI36Build 36hg18NCBI36
Celera4120,475,353 - 120,667,340 (+)NCBICelera
Cytogenetic Map4q27NCBI
HuRef4118,818,167 - 119,010,362 (+)NCBIHuRef
CHM1_14123,068,234 - 123,260,401 (+)NCBICHM1_1
T2T-CHM13v2.04125,456,397 - 125,666,898 (+)NCBIT2T-CHM13v2.0
Bltp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39336,917,212 - 37,107,182 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl336,917,253 - 37,107,182 (+)EnsemblGRCm39 Ensembl
GRCm38336,863,063 - 37,053,033 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl336,863,104 - 37,053,033 (+)EnsemblGRCm38mm10GRCm38
MGSCv37336,762,028 - 36,951,955 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36337,054,664 - 37,134,980 (+)NCBIMGSCv36mm8
MGSCv36336,826,066 - 36,933,702 (+)NCBIMGSCv36mm8
Celera336,752,416 - 36,938,956 (+)NCBICelera
Cytogenetic Map3BNCBI
cM Map318.3NCBI
Bltp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82121,636,181 - 121,852,802 (+)NCBIGRCr8
mRatBN7.22119,708,114 - 119,924,697 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2119,708,209 - 119,924,695 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2126,278,089 - 126,495,171 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02124,390,604 - 124,607,680 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02119,019,543 - 119,236,639 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02123,555,742 - 123,766,675 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2123,555,673 - 123,766,676 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02143,170,204 - 143,380,389 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42123,566,368 - 123,571,846 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12123,400,641 - 123,516,803 (+)NCBI
Celera2114,874,400 - 114,879,878 (+)NCBICelera
Cytogenetic Map2q25NCBI
Bltp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542818,224,987 - 18,424,425 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542818,224,987 - 18,424,425 (-)NCBIChiLan1.0ChiLan1.0
BLTP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23119,942,232 - 120,154,735 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14120,211,324 - 120,423,747 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04114,346,807 - 114,558,993 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14125,482,532 - 125,694,099 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4125,482,532 - 125,694,099 (+)Ensemblpanpan1.1panPan2
BLTP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11917,841,450 - 18,047,002 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1917,841,967 - 18,044,276 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1918,059,515 - 18,264,129 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01917,959,830 - 18,164,399 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1917,959,842 - 18,164,349 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11917,912,323 - 18,116,400 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01918,192,678 - 18,397,226 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01918,662,884 - 18,873,526 (-)NCBIUU_Cfam_GSD_1.0
Bltp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530165,593,167 - 65,790,121 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366621,330,446 - 1,526,633 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366621,329,646 - 1,526,610 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BLTP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8101,737,598 - 101,937,256 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18101,737,084 - 101,937,212 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28108,893,578 - 109,093,638 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BLTP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1769,424,270 - 69,635,420 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl769,457,835 - 69,635,644 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603748,387,352 - 48,597,240 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bltp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247772,560,389 - 2,806,479 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247772,560,296 - 2,806,083 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BLTP1
502 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001384125.1(BLTP1):c.1664C>T (p.Ala555Val) single nucleotide variant not provided [RCV000521758] Chr4:122207550 [GRCh38]
Chr4:123128705 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.683A>G (p.Asp228Gly) single nucleotide variant not provided [RCV000523534] Chr4:122187950 [GRCh38]
Chr4:123109105 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.648T>G (p.Asn216Lys) single nucleotide variant not provided [RCV000520408] Chr4:122187915 [GRCh38]
Chr4:123109070 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3611del (p.Asn1204fs) deletion Alkuraya-Kucinskas syndrome [RCV000576896] Chr4:122238125 [GRCh38]
Chr4:123159280 [GRCh37]
Chr4:4q27
pathogenic
NM_001384125.1(BLTP1):c.3986A>G (p.Tyr1329Cys) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV000576898]|not provided [RCV001662624]|not specified [RCV004024587] Chr4:122239668 [GRCh38]
Chr4:123160823 [GRCh37]
Chr4:4q27
pathogenic|uncertain significance
GRCh38/hg38 4q27(chr4:121636147-122327601)x3 copy number gain See cases [RCV000051634] Chr4:121636147..122327601 [GRCh38]
Chr4:122557302..123248756 [GRCh37]
Chr4:122776752..123468206 [NCBI36]
Chr4:4q27
uncertain significance
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3
pathogenic
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 copy number loss See cases [RCV000053321] Chr4:116630862..145429900 [GRCh38]
Chr4:117552018..146351052 [GRCh37]
Chr4:117771466..146570502 [NCBI36]
Chr4:4q26-31.21
pathogenic
NM_015312.3(KIAA1109):c.1074C>T (p.Phe358=) single nucleotide variant Malignant melanoma [RCV000060905] Chr4:122196656 [GRCh38]
Chr4:123117811 [GRCh37]
Chr4:123337261 [NCBI36]
Chr4:4q27
not provided
NM_015312.3(KIAA1109):c.14242C>T (p.Pro4748Ser) single nucleotide variant Malignant melanoma [RCV000060906] Chr4:122353954 [GRCh38]
Chr4:123275109 [GRCh37]
Chr4:123494559 [NCBI36]
Chr4:4q27
not provided
NM_001384125.1(BLTP1):c.10153G>C (p.Gly3385Arg) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV000576895] Chr4:122309365 [GRCh38]
Chr4:123230520 [GRCh37]
Chr4:4q27
pathogenic
NM_001384125.1(BLTP1):c.4533G>C (p.Gln1511His) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001332057] Chr4:122240215 [GRCh38]
Chr4:123161370 [GRCh37]
Chr4:4q27
uncertain significance
GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1 copy number loss See cases [RCV000143207] Chr4:117351881..133565667 [GRCh38]
Chr4:118273037..134486822 [GRCh37]
Chr4:118492485..134706272 [NCBI36]
Chr4:4q26-28.3
pathogenic
NM_001384125.1(BLTP1):c.3341C>T (p.Pro1114Leu) single nucleotide variant not specified [RCV000202854] Chr4:122234790 [GRCh38]
Chr4:123155945 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV000576897]|Dandy-Walker syndrome [RCV000162181] Chr4:122207168 [GRCh38]
Chr4:123128323 [GRCh37]
Chr4:4q27
pathogenic|likely pathogenic
NM_001384125.1(BLTP1):c.2596G>A (p.Val866Ile) single nucleotide variant not provided [RCV000519057] Chr4:122220453 [GRCh38]
Chr4:123141608 [GRCh37]
Chr4:4q27
uncertain significance
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
NM_001384125.1(BLTP1):c.997dup (p.Ile333fs) duplication not provided [RCV000304431] Chr4:122192323..122192324 [GRCh38]
Chr4:123113478..123113479 [GRCh37]
Chr4:4q27
pathogenic
NM_001384125.1(BLTP1):c.6705G>C (p.Glu2235Asp) single nucleotide variant not provided [RCV003239158]|not specified [RCV004285670] Chr4:122258786 [GRCh38]
Chr4:123179941 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.428A>G (p.Asp143Gly) single nucleotide variant not specified [RCV004308959] Chr4:122186105 [GRCh38]
Chr4:123107260 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.8423T>G (p.Phe2808Cys) single nucleotide variant not provided [RCV003238994]|not specified [RCV004285668] Chr4:122272382 [GRCh38]
Chr4:123193537 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13387C>T (p.Arg4463Ter) single nucleotide variant not provided [RCV000522604] Chr4:122347773 [GRCh38]
Chr4:123268928 [GRCh37]
Chr4:4q27
pathogenic|uncertain significance
NM_001384125.1(BLTP1):c.439C>T (p.Arg147Cys) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV000626251] Chr4:122186116 [GRCh38]
Chr4:123107271 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1498+4A>G single nucleotide variant not provided [RCV000522188]|not specified [RCV004023588] Chr4:122201130 [GRCh38]
Chr4:123122285 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11827G>T (p.Gly3943Cys) single nucleotide variant not provided [RCV000523574]|not specified [RCV004601193] Chr4:122333726 [GRCh38]
Chr4:123254881 [GRCh37]
Chr4:4q27
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
NM_001384125.1(BLTP1):c.2902C>T (p.Arg968Cys) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV000576899]|not provided [RCV001755963] Chr4:122226815 [GRCh38]
Chr4:123147970 [GRCh37]
Chr4:4q27
pathogenic|likely pathogenic|uncertain significance
NM_001384125.1(BLTP1):c.5599G>A (p.Val1867Met) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV000576894] Chr4:122249571 [GRCh38]
Chr4:123170726 [GRCh37]
Chr4:4q27
pathogenic
NM_001384125.1(BLTP1):c.13295C>A (p.Thr4432Lys) single nucleotide variant not specified [RCV004316407] Chr4:122347681 [GRCh38]
Chr4:123268836 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.14159T>C (p.Val4720Ala) single nucleotide variant not provided [RCV003239068] Chr4:122352949 [GRCh38]
Chr4:123274104 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3680A>C (p.His1227Pro) single nucleotide variant not specified [RCV004298994] Chr4:122238197 [GRCh38]
Chr4:123159352 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1272G>A (p.Met424Ile) single nucleotide variant not specified [RCV004307649] Chr4:122197258 [GRCh38]
Chr4:123118413 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.10187A>G (p.Asp3396Gly) single nucleotide variant not specified [RCV004308855] Chr4:122309399 [GRCh38]
Chr4:123230554 [GRCh37]
Chr4:4q27
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1 copy number loss not provided [RCV000682448] Chr4:116307857..129302960 [GRCh37]
Chr4:4q26-28.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q27(chr4:123044585-123352851)x3 copy number gain not provided [RCV000743947] Chr4:123044585..123352851 [GRCh37]
Chr4:4q27
benign
GRCh37/hg19 4q27(chr4:123090820-123377483)x3 copy number gain not provided [RCV000743948] Chr4:123090820..123377483 [GRCh37]
Chr4:4q27
benign
GRCh37/hg19 4q27(chr4:123093276-123235447)x3 copy number gain not provided [RCV000743949] Chr4:123093276..123235447 [GRCh37]
Chr4:4q27
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001384125.1(BLTP1):c.9037+152A>G single nucleotide variant not provided [RCV001707289] Chr4:122281926 [GRCh38]
Chr4:123203081 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.6075-60G>A single nucleotide variant not provided [RCV001691401] Chr4:122254745 [GRCh38]
Chr4:123175900 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.293+82G>C single nucleotide variant not provided [RCV001609514] Chr4:122174734 [GRCh38]
Chr4:123095889 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.7493+189C>T single nucleotide variant not provided [RCV001648207] Chr4:122267147 [GRCh38]
Chr4:123188302 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.215-26C>T single nucleotide variant not provided [RCV001610007] Chr4:122174548 [GRCh38]
Chr4:123095703 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.9673-153dup duplication not provided [RCV001667198] Chr4:122305721..122305722 [GRCh38]
Chr4:123226876..123226877 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.9870C>T (p.Ala3290=) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001730900]|not provided [RCV001648394] Chr4:122307977 [GRCh38]
Chr4:123229132 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.821+92A>C single nucleotide variant not provided [RCV001666397] Chr4:122188180 [GRCh38]
Chr4:123109335 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.6664C>T (p.Arg2222Trp) single nucleotide variant not provided [RCV001647727] Chr4:122258745 [GRCh38]
Chr4:123179900 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.4917-5dup duplication BLTP1-related disorder [RCV003933073]|not provided [RCV000918022] Chr4:122245011..122245012 [GRCh38]
Chr4:123166166..123166167 [GRCh37]
Chr4:4q27
benign|likely benign
NM_001384125.1(BLTP1):c.628-31A>G single nucleotide variant not provided [RCV001649004] Chr4:122187864 [GRCh38]
Chr4:123109019 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.7704T>C (p.Asp2568=) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001730971]|not provided [RCV001691402] Chr4:122271228 [GRCh38]
Chr4:123192383 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.7317+81C>A single nucleotide variant not provided [RCV001668053] Chr4:122264508 [GRCh38]
Chr4:123185663 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.215-200A>G single nucleotide variant not provided [RCV001666314] Chr4:122174374 [GRCh38]
Chr4:123095529 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.1380+9G>A single nucleotide variant not provided [RCV000899119] Chr4:122199459 [GRCh38]
Chr4:123120614 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.660G>A (p.Pro220=) single nucleotide variant not provided [RCV000968585] Chr4:122187927 [GRCh38]
Chr4:123109082 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.912G>A (p.Pro304=) single nucleotide variant not provided [RCV000968586] Chr4:122192239 [GRCh38]
Chr4:123113394 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.2355A>T (p.Gly785=) single nucleotide variant not provided [RCV000968587] Chr4:122219447 [GRCh38]
Chr4:123140602 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.11359C>A (p.Pro3787Thr) single nucleotide variant not provided [RCV000968588] Chr4:122328203 [GRCh38]
Chr4:123249358 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.6081G>A (p.Leu2027=) single nucleotide variant BLTP1-related disorder [RCV003935985]|not provided [RCV000964465] Chr4:122254811 [GRCh38]
Chr4:123175966 [GRCh37]
Chr4:4q27
benign|likely benign
NM_001384125.1(BLTP1):c.11314C>A (p.His3772Asn) single nucleotide variant not specified [RCV004295914] Chr4:122328158 [GRCh38]
Chr4:123249313 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3845A>G (p.Glu1282Gly) single nucleotide variant not provided [RCV000954911] Chr4:122239527 [GRCh38]
Chr4:123160682 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.3926G>A (p.Arg1309Gln) single nucleotide variant Fetal akinesia deformation sequence 1 [RCV000855516] Chr4:122239608 [GRCh38]
Chr4:123160763 [GRCh37]
Chr4:4q27
likely pathogenic
NM_015312.3(KIAA1109):c.12874T>A (p.Ser4292Thr) single nucleotide variant Esophageal atresia [RCV000984740] Chr4:122347524 [GRCh38]
Chr4:123268679 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12340A>T (p.Thr4114Ser) single nucleotide variant not specified [RCV004289072] Chr4:122336946 [GRCh38]
Chr4:123258101 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12154T>C (p.Tyr4052His) single nucleotide variant Fetal akinesia deformation sequence 1 [RCV000855517] Chr4:122336233 [GRCh38]
Chr4:123257388 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.10123G>A (p.Ala3375Thr) single nucleotide variant not provided [RCV000998289] Chr4:122309335 [GRCh38]
Chr4:123230490 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.575C>G (p.Pro192Arg) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV002471008]|BLTP1-related disorder [RCV003928653]|not provided [RCV000998288] Chr4:122187460 [GRCh38]
Chr4:123108615 [GRCh37]
Chr4:4q27
likely benign|uncertain significance
GRCh37/hg19 4q27(chr4:122547684-123268279)x3 copy number gain not provided [RCV000849513] Chr4:122547684..123268279 [GRCh37]
Chr4:4q27
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787448] Chr4:116624547..126168646 [GRCh37]
Chr4:4q26-28.1
likely pathogenic
NM_001384125.1(BLTP1):c.1183del (p.Ile395fs) deletion Alkuraya-Kucinskas syndrome [RCV000985212] Chr4:122196764 [GRCh38]
Chr4:123117919 [GRCh37]
Chr4:4q27
uncertain significance
GRCh37/hg19 4q27(chr4:122837799-123297146)x3 copy number gain not provided [RCV001005595] Chr4:122837799..123297146 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.1381-2A>G single nucleotide variant Alkuraya-Kucinskas syndrome [RCV000991428] Chr4:122201007 [GRCh38]
Chr4:123122162 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.4118C>G (p.Ser1373Cys) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001196393] Chr4:122239800 [GRCh38]
Chr4:123160955 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.5482C>G (p.His1828Asp) single nucleotide variant not specified [RCV004317949] Chr4:122247327 [GRCh38]
Chr4:123168482 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.5126C>A (p.Thr1709Lys) single nucleotide variant not provided [RCV003235961] Chr4:122246240 [GRCh38]
Chr4:123167395 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1655-9C>T single nucleotide variant not provided [RCV001720727] Chr4:122207532 [GRCh38]
Chr4:123128687 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.4672-107A>G single nucleotide variant not provided [RCV001720761] Chr4:122242891 [GRCh38]
Chr4:123164046 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.1752+50T>G single nucleotide variant not provided [RCV001686019] Chr4:122207688 [GRCh38]
Chr4:123128843 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.2038+169G>A single nucleotide variant not provided [RCV001635945] Chr4:122210093 [GRCh38]
Chr4:123131248 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.12275-105G>A single nucleotide variant not provided [RCV001597614] Chr4:122336776 [GRCh38]
Chr4:123257931 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.13393+137del deletion not provided [RCV001695653] Chr4:122347900 [GRCh38]
Chr4:123269055 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.2933T>C (p.Ile978Thr) single nucleotide variant not provided [RCV001688251] Chr4:122229131 [GRCh38]
Chr4:123150286 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.14900-9T>C single nucleotide variant not provided [RCV001721585] Chr4:122359548 [GRCh38]
Chr4:123280703 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.4916+4T>G single nucleotide variant BLTP1-related disorder [RCV003921262]|not provided [RCV001613614] Chr4:122244031 [GRCh38]
Chr4:123165186 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.7141+72G>A single nucleotide variant not provided [RCV001676572] Chr4:122263672 [GRCh38]
Chr4:123184827 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.13318A>G (p.Thr4440Ala) single nucleotide variant BLTP1-related disorder [RCV003980858]|not provided [RCV001648990] Chr4:122347704 [GRCh38]
Chr4:123268859 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.3575-92_3575-91dup duplication not provided [RCV001620305] Chr4:122237981..122237982 [GRCh38]
Chr4:123159136..123159137 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.2922+148C>G single nucleotide variant not provided [RCV001667590] Chr4:122226983 [GRCh38]
Chr4:123148138 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.11514-77A>G single nucleotide variant not provided [RCV001676956] Chr4:122331249 [GRCh38]
Chr4:123252404 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.4916+186T>G single nucleotide variant not provided [RCV001685628] Chr4:122244213 [GRCh38]
Chr4:123165368 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.5793G>C (p.Leu1931=) single nucleotide variant not provided [RCV000928110] Chr4:122250444 [GRCh38]
Chr4:123171599 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.9417C>T (p.Asn3139=) single nucleotide variant BLTP1-related disorder [RCV004753123]|not provided [RCV000928111] Chr4:122301328 [GRCh38]
Chr4:123222483 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.14640G>A (p.Leu4880=) single nucleotide variant not provided [RCV000975051] Chr4:122355866 [GRCh38]
Chr4:123277021 [GRCh37]
Chr4:4q27
benign|likely benign
NM_001384125.1(BLTP1):c.11043C>T (p.Tyr3681=) single nucleotide variant BLTP1-related disorder [RCV003930740]|not provided [RCV000889011] Chr4:122324474 [GRCh38]
Chr4:123245629 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.1655-9C>A single nucleotide variant BLTP1-related disorder [RCV003895555]|not provided [RCV000913950] Chr4:122207532 [GRCh38]
Chr4:123128687 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.14511C>T (p.Pro4837=) single nucleotide variant BLTP1-related disorder [RCV003943080]|not provided [RCV000956254] Chr4:122353959 [GRCh38]
Chr4:123275114 [GRCh37]
Chr4:4q27
benign|likely benign
NM_001384125.1(BLTP1):c.6160T>C (p.Leu2054=) single nucleotide variant BLTP1-related disorder [RCV003968124]|not provided [RCV000890936] Chr4:122254890 [GRCh38]
Chr4:123176045 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.214+8T>G single nucleotide variant BLTP1-related disorder [RCV003960670]|not provided [RCV000956253] Chr4:122173160 [GRCh38]
Chr4:123094315 [GRCh37]
Chr4:4q27
benign|likely benign
NM_001384125.1(BLTP1):c.1498+96A>G single nucleotide variant not provided [RCV001720721] Chr4:122201222 [GRCh38]
Chr4:123122377 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.3834-25G>A single nucleotide variant not provided [RCV001720722] Chr4:122239491 [GRCh38]
Chr4:123160646 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.13896-37G>A single nucleotide variant not provided [RCV001720763] Chr4:122349820 [GRCh38]
Chr4:123270975 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.10312+103A>T single nucleotide variant not provided [RCV001720775] Chr4:122313790 [GRCh38]
Chr4:123234945 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.3833+78T>C single nucleotide variant not provided [RCV001659568] Chr4:122238428 [GRCh38]
Chr4:123159583 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.12112+49G>T single nucleotide variant not provided [RCV001657054] Chr4:122334594 [GRCh38]
Chr4:123255749 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.14764+47C>G single nucleotide variant not provided [RCV001621086] Chr4:122356037 [GRCh38]
Chr4:123277192 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.1752+108T>A single nucleotide variant not provided [RCV001660991] Chr4:122207746 [GRCh38]
Chr4:123128901 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.7317+100C>A single nucleotide variant not provided [RCV001619755] Chr4:122264527 [GRCh38]
Chr4:123185682 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.12617-80T>C single nucleotide variant not provided [RCV001598322] Chr4:122343330 [GRCh38]
Chr4:123264485 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.4671+111A>G single nucleotide variant not provided [RCV001655994] Chr4:122240464 [GRCh38]
Chr4:123161619 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.1053-61T>C single nucleotide variant not provided [RCV001595903] Chr4:122196574 [GRCh38]
Chr4:123117729 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.1932-87A>G single nucleotide variant not provided [RCV001649343] Chr4:122209731 [GRCh38]
Chr4:123130886 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.8798+175A>T single nucleotide variant not provided [RCV001658549] Chr4:122280156 [GRCh38]
Chr4:123201311 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.5372G>A (p.Arg1791Lys) single nucleotide variant not provided [RCV001573005]|not specified [RCV004039394] Chr4:122247217 [GRCh38]
Chr4:123168372 [GRCh37]
Chr4:4q27
likely benign|uncertain significance
NM_001384125.1(BLTP1):c.13394-218T>G single nucleotide variant not provided [RCV001658943] Chr4:122348349 [GRCh38]
Chr4:123269504 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.5312+159_5312+160del microsatellite not provided [RCV001636232] Chr4:122246967..122246968 [GRCh38]
Chr4:123168122..123168123 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.6197T>A (p.Met2066Lys) single nucleotide variant not provided [RCV002473419] Chr4:122254927 [GRCh38]
Chr4:123176082 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2974A>G (p.Met992Val) single nucleotide variant not specified [RCV004325002] Chr4:122229172 [GRCh38]
Chr4:123150327 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.10457A>G (p.Asp3486Gly) single nucleotide variant not specified [RCV004311358] Chr4:122315606 [GRCh38]
Chr4:123236761 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.9222T>G (p.Asp3074Glu) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV002470595] Chr4:122286725 [GRCh38]
Chr4:123207880 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.10741-5T>C single nucleotide variant Alkuraya-Kucinskas syndrome [RCV002472096] Chr4:122316727 [GRCh38]
Chr4:123237882 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12818-196G>A single nucleotide variant not provided [RCV001651487] Chr4:122344186 [GRCh38]
Chr4:123265341 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.13896-77G>A single nucleotide variant not provided [RCV001687941] Chr4:122349780 [GRCh38]
Chr4:123270935 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.822-199A>G single nucleotide variant not provided [RCV001688437] Chr4:122189801 [GRCh38]
Chr4:123110956 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.14620A>G (p.Thr4874Ala) single nucleotide variant BLTP1-related disorder [RCV003921289]|not provided [RCV001636536] Chr4:122355846 [GRCh38]
Chr4:123277001 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.294-167C>T single nucleotide variant not provided [RCV001720735] Chr4:122175683 [GRCh38]
Chr4:123096838 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.11911-180G>C single nucleotide variant not provided [RCV001720765] Chr4:122334164 [GRCh38]
Chr4:123255319 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.5923-227C>A single nucleotide variant not provided [RCV001720770] Chr4:122253968 [GRCh38]
Chr4:123175123 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.14073G>A (p.Lys4691=) single nucleotide variant BLTP1-related disorder [RCV003913342]|not provided [RCV001720774] Chr4:122350034 [GRCh38]
Chr4:123271189 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.1289-119G>A single nucleotide variant not provided [RCV001621722] Chr4:122199240 [GRCh38]
Chr4:123120395 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.-33-92C>T single nucleotide variant not provided [RCV001688464] Chr4:122170523 [GRCh38]
Chr4:123091678 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.4494C>T (p.Pro1498=) single nucleotide variant BLTP1-related disorder [RCV003913341]|not provided [RCV001720764] Chr4:122240176 [GRCh38]
Chr4:123161331 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.12997+175T>A single nucleotide variant not provided [RCV001720767] Chr4:122344736 [GRCh38]
Chr4:123265891 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.901+120C>A single nucleotide variant not provided [RCV001641258] Chr4:122190199 [GRCh38]
Chr4:123111354 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.6378+128C>T single nucleotide variant not provided [RCV001717931] Chr4:122255411 [GRCh38]
Chr4:123176566 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.9389-27dup duplication not provided [RCV001657618] Chr4:122301262..122301263 [GRCh38]
Chr4:123222417..123222418 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.1753-156_1753-155del deletion not provided [RCV001721655] Chr4:122208986..122208987 [GRCh38]
Chr4:123130141..123130142 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.8447-62T>G single nucleotide variant not provided [RCV001685699] Chr4:122274281 [GRCh38]
Chr4:123195436 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.7318-69C>T single nucleotide variant not provided [RCV001613516] Chr4:122266714 [GRCh38]
Chr4:123187869 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.6982+147G>T single nucleotide variant not provided [RCV001710725] Chr4:122263130 [GRCh38]
Chr4:123184285 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.627+95G>A single nucleotide variant not provided [RCV001661258] Chr4:122187607 [GRCh38]
Chr4:123108762 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.6619+212T>C single nucleotide variant not provided [RCV001656127] Chr4:122257707 [GRCh38]
Chr4:123178862 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.8201-69A>G single nucleotide variant not provided [RCV001686803] Chr4:122272091 [GRCh38]
Chr4:123193246 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.9389-27del deletion not provided [RCV001686931] Chr4:122301263 [GRCh38]
Chr4:123222418 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.9673-122C>G single nucleotide variant not provided [RCV001676848] Chr4:122305755 [GRCh38]
Chr4:123226910 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.8798+129G>A single nucleotide variant not provided [RCV001687365] Chr4:122280110 [GRCh38]
Chr4:123201265 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.1655-4G>T single nucleotide variant not provided [RCV001686683] Chr4:122207537 [GRCh38]
Chr4:123128692 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.5853T>A (p.Asp1951Glu) single nucleotide variant BLTP1-related disorder [RCV003975858]|not provided [RCV001669024] Chr4:122250504 [GRCh38]
Chr4:123171659 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.2475+17G>C single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001730871]|not provided [RCV001609607] Chr4:122219584 [GRCh38]
Chr4:123140739 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.10312+168G>C single nucleotide variant not provided [RCV001652687] Chr4:122313855 [GRCh38]
Chr4:123235010 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.4917-82T>C single nucleotide variant not provided [RCV001651806] Chr4:122244938 [GRCh38]
Chr4:123166093 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.14580G>A (p.Leu4860=) single nucleotide variant not provided [RCV001685964] Chr4:122355806 [GRCh38]
Chr4:123276961 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.8540+91A>G single nucleotide variant not provided [RCV001696026] Chr4:122274527 [GRCh38]
Chr4:123195682 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.946A>G (p.Ser316Gly) single nucleotide variant not provided [RCV001665918] Chr4:122192273 [GRCh38]
Chr4:123113428 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.3575-91dup duplication not provided [RCV001708297] Chr4:122237981..122237982 [GRCh38]
Chr4:123159136..123159137 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.628-3del deletion not provided [RCV001611227] Chr4:122187880 [GRCh38]
Chr4:123109035 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.9388+156C>T single nucleotide variant not provided [RCV001714123] Chr4:122289348 [GRCh38]
Chr4:123210503 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.8787G>A (p.Gln2929=) single nucleotide variant BLTP1-related disorder [RCV003910931]|not provided [RCV001609645] Chr4:122279970 [GRCh38]
Chr4:123201125 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.6983-186T>C single nucleotide variant not provided [RCV001707359] Chr4:122263256 [GRCh38]
Chr4:122263256..122263257 [GRCh38]
Chr4:123184411 [GRCh37]
Chr4:123184411..123184412 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.4916+59G>A single nucleotide variant not provided [RCV001714143] Chr4:122244086 [GRCh38]
Chr4:123165241 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.4743-209A>G single nucleotide variant not provided [RCV001649313] Chr4:122243645 [GRCh38]
Chr4:123164800 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.13545-212G>T single nucleotide variant not provided [RCV001694607] Chr4:122348946 [GRCh38]
Chr4:123270101 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.11260-209T>C single nucleotide variant not provided [RCV001672358] Chr4:122327895 [GRCh38]
Chr4:123249050 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.1381-16_1381-12del deletion not provided [RCV001651719] Chr4:122200992..122200996 [GRCh38]
Chr4:123122147..123122151 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.12274+56T>C single nucleotide variant not provided [RCV001684874] Chr4:122336409 [GRCh38]
Chr4:123257564 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.11260-23A>G single nucleotide variant not provided [RCV001709004] Chr4:122328081 [GRCh38]
Chr4:123249236 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.1209+9T>C single nucleotide variant not provided [RCV001681424] Chr4:122196800 [GRCh38]
Chr4:123117955 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.4927G>A (p.Ala1643Thr) single nucleotide variant not provided [RCV001529276]|not specified [RCV004039204] Chr4:122245030 [GRCh38]
Chr4:123166185 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.6762+32C>T single nucleotide variant not provided [RCV001708224] Chr4:122258875 [GRCh38]
Chr4:123180030 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.12914_12915insCCTG (p.Ser4306fs) insertion not provided [RCV001208080] Chr4:122344477..122344478 [GRCh38]
Chr4:123265632..123265633 [GRCh37]
Chr4:4q27
pathogenic
NM_001384125.1(BLTP1):c.1156C>T (p.Arg386Ter) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001196392] Chr4:122196738 [GRCh38]
Chr4:123117893 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.2431A>G (p.Thr811Ala) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001251434] Chr4:122219523 [GRCh38]
Chr4:123140678 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.14902A>G (p.Ile4968Val) single nucleotide variant Inborn genetic diseases [RCV001266296] Chr4:122359559 [GRCh38]
Chr4:123280714 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2618G>A (p.Arg873Gln) single nucleotide variant Inborn genetic diseases [RCV001266297] Chr4:122224502 [GRCh38]
Chr4:123145657 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1498+159T>C single nucleotide variant not provided [RCV001641899] Chr4:122201285 [GRCh38]
Chr4:123122440 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.11707C>T (p.His3903Tyr) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001262001] Chr4:122331519 [GRCh38]
Chr4:123252674 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3323+1G>A single nucleotide variant Clubfoot [RCV001257375] Chr4:122230212 [GRCh38]
Chr4:123151367 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.14113+11G>C single nucleotide variant Hemivertebrae [RCV001257377] Chr4:122350085 [GRCh38]
Chr4:123271240 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.692del (p.Phe231fs) deletion Clubfoot [RCV001257402] Chr4:122187957 [GRCh38]
Chr4:123109112 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.5184+4A>G single nucleotide variant not provided [RCV001268444] Chr4:122246302 [GRCh38]
Chr4:123167457 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.5499del (p.Asp1835fs) deletion not provided [RCV001268446] Chr4:122247344 [GRCh38]
Chr4:123168499 [GRCh37]
Chr4:4q27
pathogenic
NM_001384125.1(BLTP1):c.15048T>C (p.His5016=) single nucleotide variant not provided [RCV001536151] Chr4:122359705 [GRCh38]
Chr4:123280860 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.5494_5497del (p.Arg1832fs) deletion not provided [RCV001268445] Chr4:122247339..122247342 [GRCh38]
Chr4:123168494..123168497 [GRCh37]
Chr4:4q27
pathogenic
GRCh37/hg19 4q27(chr4:122970877-123230315)x3 copy number gain not provided [RCV001259309] Chr4:122970877..123230315 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.9153del (p.Val3052fs) deletion Hemivertebrae [RCV001257376] Chr4:122286656 [GRCh38]
Chr4:123207811 [GRCh37]
Chr4:4q27
pathogenic
NM_001384125.1(BLTP1):c.7096C>T (p.Gln2366Ter) single nucleotide variant not provided [RCV001572438] Chr4:122263555 [GRCh38]
Chr4:123184710 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.14628G>T (p.Lys4876Asn) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001262000] Chr4:122355854 [GRCh38]
Chr4:123277009 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13909C>G (p.His4637Asp) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001336274] Chr4:122349870 [GRCh38]
Chr4:123271025 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.822-3T>C single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001336277] Chr4:122189997 [GRCh38]
Chr4:123111152 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4064C>T (p.Ser1355Leu) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001336275] Chr4:122239746 [GRCh38]
Chr4:123160901 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3263del (p.His1088fs) deletion Alkuraya-Kucinskas syndrome [RCV001332056] Chr4:122230151 [GRCh38]
Chr4:123151306 [GRCh37]
Chr4:4q27
pathogenic|likely pathogenic
NM_001384125.1(BLTP1):c.3821A>G (p.Asp1274Gly) single nucleotide variant not provided [RCV001321975] Chr4:122238338 [GRCh38]
Chr4:123159493 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12610A>C (p.Ile4204Leu) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001336273]|not specified [RCV004035807] Chr4:122339402 [GRCh38]
Chr4:123260557 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.9225A>C (p.Glu3075Asp) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001336279] Chr4:122286728 [GRCh38]
Chr4:123207883 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3046G>A (p.Gly1016Ser) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001374622]|not specified [RCV004037613] Chr4:122229934 [GRCh38]
Chr4:123151089 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.10994G>A (p.Arg3665Gln) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001374623] Chr4:122318269 [GRCh38]
Chr4:123239424 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.8411T>C (p.Ile2804Thr) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001336278]|not provided [RCV003229045]|not specified [RCV004035808] Chr4:122272370 [GRCh38]
Chr4:123193525 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12407G>A (p.Arg4136Gln) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001336272] Chr4:122337013 [GRCh38]
Chr4:123258168 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4538T>C (p.Ile1513Thr) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001336276]|BLTP1-related disorder [RCV003946002]|not provided [RCV004692571] Chr4:122240220 [GRCh38]
Chr4:123161375 [GRCh37]
Chr4:4q27
likely benign|uncertain significance
GRCh37/hg19 4q26-28.2(chr4:116833638-130232122) copy number loss Atypical behavior [RCV001352657] Chr4:116833638..130232122 [GRCh37]
Chr4:4q26-28.2
pathogenic
NM_001384125.1(BLTP1):c.5184+119G>A single nucleotide variant not provided [RCV001540693] Chr4:122246417 [GRCh38]
Chr4:123167572 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.11514-43T>C single nucleotide variant not provided [RCV001541749] Chr4:122331283 [GRCh38]
Chr4:123252438 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.6315A>G (p.Leu2105=) single nucleotide variant BLTP1-related disorder [RCV003921291]|not provided [RCV001645533] Chr4:122255220 [GRCh38]
Chr4:123176375 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.902-32A>G single nucleotide variant not provided [RCV001617506] Chr4:122192197 [GRCh38]
Chr4:123113352 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.2712T>A (p.Pro904=) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001730955]|not provided [RCV001684483] Chr4:122224596 [GRCh38]
Chr4:123145751 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.1753-155del deletion not provided [RCV001674134] Chr4:122208986 [GRCh38]
Chr4:123130141 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.5361A>G (p.Ser1787=) single nucleotide variant BLTP1-related disorder [RCV003921309]|not provided [RCV001665048] Chr4:122247206 [GRCh38]
Chr4:123168361 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.3575-17A>G single nucleotide variant not provided [RCV001671802] Chr4:122238075 [GRCh38]
Chr4:123159230 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.1655-117G>A single nucleotide variant not provided [RCV001694502] Chr4:122207424 [GRCh38]
Chr4:123128579 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.5184+22A>T single nucleotide variant not provided [RCV001668012] Chr4:122246320 [GRCh38]
Chr4:123167475 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.98-174C>T single nucleotide variant not provided [RCV001618119] Chr4:122172862 [GRCh38]
Chr4:123094017 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.6075-161dup duplication not provided [RCV001685878] Chr4:122254636..122254637 [GRCh38]
Chr4:123175791..123175792 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.3391G>A (p.Gly1131Ser) single nucleotide variant not provided [RCV002280541] Chr4:122234840 [GRCh38]
Chr4:123155995 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11413C>T (p.Arg3805Ter) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001782338] Chr4:122328257 [GRCh38]
Chr4:123249412 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.13793C>T (p.Ser4598Leu) single nucleotide variant not provided [RCV001761255] Chr4:122349540 [GRCh38]
Chr4:123270695 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11771C>T (p.Pro3924Leu) single nucleotide variant not provided [RCV001763056]|not specified [RCV004601522] Chr4:122333670 [GRCh38]
Chr4:123254825 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.505C>T (p.Arg169Trp) single nucleotide variant not provided [RCV001769324] Chr4:122186182 [GRCh38]
Chr4:123107337 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1381-407del deletion not provided [RCV003238014] Chr4:122200584 [GRCh38]
Chr4:123121739 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11089C>T (p.Arg3697Ter) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001782337] Chr4:122324520 [GRCh38]
Chr4:123245675 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.793C>T (p.Pro265Ser) single nucleotide variant not provided [RCV001772760]|not specified [RCV004040169] Chr4:122188060 [GRCh38]
Chr4:123109215 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11863A>G (p.Ser3955Gly) single nucleotide variant not provided [RCV001773100] Chr4:122333762 [GRCh38]
Chr4:123254917 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13258_13260dup (p.Met4420dup) duplication not provided [RCV003238015] Chr4:122347643..122347644 [GRCh38]
Chr4:123268798..123268799 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13162A>G (p.Ile4388Val) single nucleotide variant BLTP1-related disorder [RCV003956353]|not provided [RCV001772408] Chr4:122347548 [GRCh38]
Chr4:123268703 [GRCh37]
Chr4:4q27
likely benign|uncertain significance
NM_001384125.1(BLTP1):c.2935C>T (p.Pro979Ser) single nucleotide variant BLTP1-related disorder [RCV003913364]|not provided [RCV001765746] Chr4:122229133 [GRCh38]
Chr4:123150288 [GRCh37]
Chr4:4q27
likely benign|uncertain significance
NM_001384125.1(BLTP1):c.911C>T (p.Pro304Leu) single nucleotide variant not provided [RCV001786159] Chr4:122192238 [GRCh38]
Chr4:123113393 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3764C>T (p.Ser1255Phe) single nucleotide variant not provided [RCV001786057] Chr4:122238281 [GRCh38]
Chr4:123159436 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13928A>C (p.Asp4643Ala) single nucleotide variant not provided [RCV001774703] Chr4:122349889 [GRCh38]
Chr4:123271044 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13150A>G (p.Thr4384Ala) single nucleotide variant not provided [RCV001774721] Chr4:122347536 [GRCh38]
Chr4:123268691 [GRCh37]
Chr4:4q27
uncertain significance
GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1 copy number loss not provided [RCV001795851] Chr4:114872547..138005267 [GRCh37]
Chr4:4q26-28.3
pathogenic
NM_001384125.1(BLTP1):c.5194T>C (p.Cys1732Arg) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV004527430]|not provided [RCV001764828] Chr4:122246692 [GRCh38]
Chr4:123167847 [GRCh37]
Chr4:4q27
conflicting interpretations of pathogenicity|uncertain significance
NM_001384125.1(BLTP1):c.5037+4A>G single nucleotide variant not provided [RCV001753917] Chr4:122245144 [GRCh38]
Chr4:123166299 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11158T>A (p.Ser3720Thr) single nucleotide variant not provided [RCV001774713] Chr4:122325282 [GRCh38]
Chr4:123246437 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.9009G>A (p.Met3003Ile) single nucleotide variant not provided [RCV001754176] Chr4:122281746 [GRCh38]
Chr4:123202901 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1574T>C (p.Ile525Thr) single nucleotide variant not provided [RCV001754189] Chr4:122207185 [GRCh38]
Chr4:123128340 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.148C>T (p.Arg50Trp) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001733672]|not provided [RCV003128787] Chr4:122173086 [GRCh38]
Chr4:123094241 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.9370_9371dup (p.Val3124_Ile3125insTer) duplication Alkuraya-Kucinskas syndrome [RCV001783507] Chr4:122289173..122289174 [GRCh38]
Chr4:123210328..123210329 [GRCh37]
Chr4:4q27
pathogenic
NM_001384125.1(BLTP1):c.4287dup (p.Arg1430Ter) duplication Alkuraya-Kucinskas syndrome [RCV001783508] Chr4:122239968..122239969 [GRCh38]
Chr4:123161123..123161124 [GRCh37]
Chr4:4q27
pathogenic
NM_001384125.1(BLTP1):c.13271C>G (p.Pro4424Arg) single nucleotide variant not provided [RCV001763058] Chr4:122347657 [GRCh38]
Chr4:123268812 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.283A>G (p.Met95Val) single nucleotide variant not specified [RCV001822724] Chr4:122174642 [GRCh38]
Chr4:123095797 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4949C>G (p.Thr1650Ser) single nucleotide variant not provided [RCV001914349] Chr4:122245052 [GRCh38]
Chr4:123166207 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2783C>T (p.Thr928Ile) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001823090] Chr4:122224667 [GRCh38]
Chr4:123145822 [GRCh37]
Chr4:4q27
uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21
pathogenic
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21
pathogenic
NM_001384125.1(BLTP1):c.11514-1G>A single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001844365] Chr4:122331325 [GRCh38]
Chr4:123252480 [GRCh37]
Chr4:4q27
pathogenic
NM_001384125.1(BLTP1):c.3221A>G (p.Asn1074Ser) single nucleotide variant not provided [RCV001911630]|not specified [RCV004041772] Chr4:122230109 [GRCh38]
Chr4:123151264 [GRCh37]
Chr4:4q27
conflicting interpretations of pathogenicity|uncertain significance
NM_001384125.1(BLTP1):c.11368C>T (p.Pro3790Ser) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001823091] Chr4:122328212 [GRCh38]
Chr4:123249367 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12331G>T (p.Glu4111Ter) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV001844364] Chr4:122336937 [GRCh38]
Chr4:123258092 [GRCh37]
Chr4:4q27
pathogenic
GRCh37/hg19 4q26-28.2(chr4:116888785-129649979) copy number loss not specified [RCV002053451] Chr4:116888785..129649979 [GRCh37]
Chr4:4q26-28.2
pathogenic
NM_001384125.1(BLTP1):c.5342C>A (p.Ala1781Glu) single nucleotide variant not provided [RCV001982462] Chr4:122247187 [GRCh38]
Chr4:123168342 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13702+3A>G single nucleotide variant Alkuraya-Kucinskas syndrome [RCV002086756] Chr4:122349318 [GRCh38]
Chr4:123270473 [GRCh37]
Chr4:4q27
uncertain significance
NM_015312.4(BLTP1):c.7105C>A (p.Pro2369Thr) single nucleotide variant not provided [RCV002221713]   uncertain significance
NM_015312.4(BLTP1):c.808C>T (p.Leu270Phe) single nucleotide variant not provided [RCV002221792]   uncertain significance
NM_001384125.1(BLTP1):c.2992G>T (p.Asp998Tyr) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV002227619]|not specified [RCV004047249] Chr4:122229190 [GRCh38]
Chr4:123150345 [GRCh37]
Chr4:4q27
uncertain significance
NC_000004.11:g.(?_121616266)_(124323706_?)dup duplication Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [RCV003113657] Chr4:121616266..124323706 [GRCh37]
Chr4:4q27-28.1
uncertain significance
NM_001384125.1(BLTP1):c.4504T>A (p.Cys1502Ser) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV004784921] Chr4:122240186 [GRCh38]
Chr4:123161341 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.14762A>C (p.Gln4921Pro) single nucleotide variant not provided [RCV003128917] Chr4:122355988 [GRCh38]
Chr4:123277143 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11650C>T (p.Arg3884Trp) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003131349] Chr4:122331462 [GRCh38]
Chr4:123252617 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2209_2247+201dup duplication Alkuraya-Kucinskas syndrome [RCV002227618] Chr4:122211054..122211055 [GRCh38]
Chr4:123132209..123132210 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.9875A>T (p.Tyr3292Phe) single nucleotide variant not provided [RCV003129257] Chr4:122307982 [GRCh38]
Chr4:123229137 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1310G>A (p.Gly437Glu) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003233059] Chr4:122199380 [GRCh38]
Chr4:123120535 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.14051C>T (p.Pro4684Leu) single nucleotide variant not provided [RCV003235965] Chr4:122350012 [GRCh38]
Chr4:123271167 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13135A>C (p.Thr4379Pro) single nucleotide variant not provided [RCV002275387] Chr4:122346760 [GRCh38]
Chr4:123267915 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3413G>C (p.Gly1138Ala) single nucleotide variant not provided [RCV002275741] Chr4:122234862 [GRCh38]
Chr4:123156017 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12617-2A>G single nucleotide variant Alkuraya-Kucinskas syndrome [RCV002281888] Chr4:122343408 [GRCh38]
Chr4:123264563 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.4057C>G (p.Leu1353Val) single nucleotide variant not provided [RCV002273579] Chr4:122239739 [GRCh38]
Chr4:123160894 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11131C>T (p.Leu3711Phe) single nucleotide variant not specified [RCV004309781] Chr4:122325255 [GRCh38]
Chr4:123246410 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2014G>T (p.Ala672Ser) single nucleotide variant not provided [RCV002265258] Chr4:122209900 [GRCh38]
Chr4:123131055 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1270A>G (p.Met424Val) single nucleotide variant not provided [RCV002273485] Chr4:122197256 [GRCh38]
Chr4:123118411 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.10258G>C (p.Val3420Leu) single nucleotide variant not provided [RCV003235960] Chr4:122313633 [GRCh38]
Chr4:123234788 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4719G>A (p.Met1573Ile) single nucleotide variant not specified [RCV003236255] Chr4:122243045 [GRCh38]
Chr4:123164200 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1410A>G (p.Ile470Met) single nucleotide variant not specified [RCV004312274] Chr4:122201038 [GRCh38]
Chr4:123122193 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12277G>C (p.Val4093Leu) single nucleotide variant BLTP1-related disorder [RCV003954084]|not specified [RCV004332460] Chr4:122336883 [GRCh38]
Chr4:123258038 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.13411T>A (p.Ser4471Thr) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV002470442] Chr4:122348584 [GRCh38]
Chr4:123269739 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.14230A>G (p.Met4744Val) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV002470315] Chr4:122353020 [GRCh38]
Chr4:123274175 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1786G>A (p.Asp596Asn) single nucleotide variant not provided [RCV002308745] Chr4:122209192 [GRCh38]
Chr4:123130347 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1123G>A (p.Gly375Arg) single nucleotide variant not provided [RCV002308751] Chr4:122196705 [GRCh38]
Chr4:123117860 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13551A>C (p.Thr4517=) single nucleotide variant not provided [RCV002512260] Chr4:122349164 [GRCh38]
Chr4:123270319 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.13592G>A (p.Ser4531Asn) single nucleotide variant not provided [RCV002511452] Chr4:122349205 [GRCh38]
Chr4:123270360 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.944T>G (p.Met315Arg) single nucleotide variant not provided [RCV002511284] Chr4:122192271 [GRCh38]
Chr4:123113426 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3094G>A (p.Glu1032Lys) single nucleotide variant not provided [RCV002510179] Chr4:122229982 [GRCh38]
Chr4:123151137 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11183A>G (p.Asn3728Ser) single nucleotide variant not provided [RCV002510046]|not specified [RCV004064285] Chr4:122325307 [GRCh38]
Chr4:123246462 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.247del (p.Val83fs) deletion not provided [RCV003066019] Chr4:122174606 [GRCh38]
Chr4:123095761 [GRCh37]
Chr4:4q27
pathogenic
NM_001384125.1(BLTP1):c.901+49_901+53dup duplication Alkuraya-Kucinskas syndrome [RCV003131350] Chr4:122190127..122190128 [GRCh38]
Chr4:123111282..123111283 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3389T>C (p.Leu1130Pro) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003131351] Chr4:122234838 [GRCh38]
Chr4:123155993 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.9505A>G (p.Thr3169Ala) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV004796536] Chr4:122304816 [GRCh38]
Chr4:123225971 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.8246A>G (p.Asn2749Ser) single nucleotide variant not specified [RCV004253914] Chr4:122272205 [GRCh38]
Chr4:123193360 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13280T>G (p.Phe4427Cys) single nucleotide variant not specified [RCV004272235] Chr4:122347666 [GRCh38]
Chr4:123268821 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3131G>C (p.Arg1044Thr) single nucleotide variant not specified [RCV004274327] Chr4:122230019 [GRCh38]
Chr4:123151174 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4916+2T>C single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003146822] Chr4:122244029 [GRCh38]
Chr4:123165184 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.8500G>A (p.Val2834Ile) single nucleotide variant not specified [RCV004277589] Chr4:122274396 [GRCh38]
Chr4:123195551 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.10784C>T (p.Pro3595Leu) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003133861] Chr4:122316775 [GRCh38]
Chr4:123237930 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12692G>C (p.Ser4231Thr) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003133864] Chr4:122343485 [GRCh38]
Chr4:123264640 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.9082C>T (p.Arg3028Cys) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003133869] Chr4:122286585 [GRCh38]
Chr4:123207740 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1709C>T (p.Thr570Met) single nucleotide variant not specified [RCV004259190] Chr4:122207595 [GRCh38]
Chr4:123128750 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.10079C>G (p.Thr3360Ser) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003133863] Chr4:122309291 [GRCh38]
Chr4:123230446 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.10451T>C (p.Ile3484Thr) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003133867] Chr4:122315600 [GRCh38]
Chr4:123236755 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.10872-1G>C single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003146819] Chr4:122318146 [GRCh38]
Chr4:123239301 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.5435C>T (p.Ala1812Val) single nucleotide variant not specified [RCV004327129] Chr4:122247280 [GRCh38]
Chr4:123168435 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.772C>T (p.Arg258Ter) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003146817] Chr4:122188039 [GRCh38]
Chr4:123109194 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.2730A>C (p.Leu910Phe) single nucleotide variant not specified [RCV004286263] Chr4:122224614 [GRCh38]
Chr4:123145769 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1297C>G (p.Pro433Ala) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003156046] Chr4:122199367 [GRCh38]
Chr4:123120522 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.14593G>A (p.Asp4865Asn) single nucleotide variant not specified [RCV004266822] Chr4:122355819 [GRCh38]
Chr4:123276974 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2308G>A (p.Val770Ile) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003133866] Chr4:122219400 [GRCh38]
Chr4:123140555 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.9209T>G (p.Val3070Gly) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003133868]|BLTP1-related disorder [RCV003919017]|not specified [RCV004246009] Chr4:122286712 [GRCh38]
Chr4:123207867 [GRCh37]
Chr4:4q27
likely benign|uncertain significance
NM_001384125.1(BLTP1):c.14935G>C (p.Gly4979Arg) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003142596] Chr4:122359592 [GRCh38]
Chr4:123280747 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.8713C>G (p.Pro2905Ala) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003133865] Chr4:122279896 [GRCh38]
Chr4:123201051 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11990A>G (p.Lys3997Arg) single nucleotide variant not specified [RCV004276111] Chr4:122334423 [GRCh38]
Chr4:123255578 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7387A>G (p.Met2463Val) single nucleotide variant not provided [RCV003227447] Chr4:122266852 [GRCh38]
Chr4:123188007 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2404C>G (p.Pro802Ala) single nucleotide variant not specified [RCV004277525] Chr4:122219496 [GRCh38]
Chr4:123140651 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7861T>C (p.Phe2621Leu) single nucleotide variant not specified [RCV004268088] Chr4:122271385 [GRCh38]
Chr4:123192540 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4357A>C (p.Thr1453Pro) single nucleotide variant not specified [RCV004327776] Chr4:122240039 [GRCh38]
Chr4:123161194 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4672G>A (p.Val1558Ile) single nucleotide variant not specified [RCV004323994] Chr4:122242998 [GRCh38]
Chr4:123164153 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1088A>G (p.Tyr363Cys) single nucleotide variant not specified [RCV004321484] Chr4:122196670 [GRCh38]
Chr4:123117825 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4081A>C (p.Ser1361Arg) single nucleotide variant not specified [RCV004315648] Chr4:122239763 [GRCh38]
Chr4:123160918 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.14534A>G (p.Glu4845Gly) single nucleotide variant not specified [RCV004302111] Chr4:122353982 [GRCh38]
Chr4:123275137 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1957G>T (p.Val653Phe) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003328533]|not specified [RCV004334099] Chr4:122209843 [GRCh38]
Chr4:123130998 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2171A>G (p.His724Arg) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003328534] Chr4:122211019 [GRCh38]
Chr4:123132174 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.5056A>G (p.Ile1686Val) single nucleotide variant not provided [RCV003325860] Chr4:122246170 [GRCh38]
Chr4:123167325 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3761C>T (p.Ser1254Leu) single nucleotide variant not provided [RCV003325773] Chr4:122238278 [GRCh38]
Chr4:123159433 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.8923C>G (p.Pro2975Ala) single nucleotide variant not specified [RCV004337388] Chr4:122281660 [GRCh38]
Chr4:123202815 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.904C>T (p.Leu302Phe) single nucleotide variant not specified [RCV004354782] Chr4:122192231 [GRCh38]
Chr4:123113386 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.8740C>T (p.Arg2914Ter) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003330465] Chr4:122279923 [GRCh38]
Chr4:123201078 [GRCh37]
Chr4:4q27
pathogenic
NM_001384125.1(BLTP1):c.14206G>C (p.Asp4736His) single nucleotide variant not specified [RCV004357015] Chr4:122352996 [GRCh38]
Chr4:123274151 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11398C>A (p.Gln3800Lys) single nucleotide variant not specified [RCV004361807] Chr4:122328242 [GRCh38]
Chr4:123249397 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.339C>A (p.Asn113Lys) single nucleotide variant not specified [RCV004334566] Chr4:122175895 [GRCh38]
Chr4:123097050 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12784G>C (p.Val4262Leu) single nucleotide variant not specified [RCV004362186] Chr4:122343577 [GRCh38]
Chr4:123264732 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13406A>C (p.Lys4469Thr) single nucleotide variant not specified [RCV004360462] Chr4:122348579 [GRCh38]
Chr4:123269734 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.143A>C (p.Asn48Thr) single nucleotide variant not specified [RCV004354840] Chr4:122173081 [GRCh38]
Chr4:123094236 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7613C>A (p.Ala2538Asp) single nucleotide variant BLTP1-related disorder [RCV003954096]|not specified [RCV004357159] Chr4:122271137 [GRCh38]
Chr4:123192292 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3683G>C (p.Ser1228Thr) single nucleotide variant not specified [RCV004361839] Chr4:122238200 [GRCh38]
Chr4:123159355 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11566A>G (p.Thr3856Ala) single nucleotide variant not specified [RCV004339018] Chr4:122331378 [GRCh38]
Chr4:123252533 [GRCh37]
Chr4:4q27
uncertain significance
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3
pathogenic
NM_001384125.1(BLTP1):c.11513+1G>C single nucleotide variant BLTP1-related disorder [RCV003397465] Chr4:122328358 [GRCh38]
Chr4:123249513 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.1918G>A (p.Val640Ile) single nucleotide variant BLTP1-related disorder [RCV003946602]|not provided [RCV003435146] Chr4:122209324 [GRCh38]
Chr4:123130479 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.10785G>A (p.Pro3595=) single nucleotide variant not provided [RCV003435148] Chr4:122316776 [GRCh38]
Chr4:123237931 [GRCh37]
Chr4:4q27
likely benign
GRCh37/hg19 4q27(chr4:122547685-123261107)x3 copy number gain not provided [RCV003484201] Chr4:122547685..123261107 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.613G>A (p.Val205Ile) single nucleotide variant not provided [RCV003441239] Chr4:122187498 [GRCh38]
Chr4:123108653 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12354G>A (p.Ser4118=) single nucleotide variant BLTP1-related disorder [RCV003954191]|not provided [RCV003439488] Chr4:122336960 [GRCh38]
Chr4:123258115 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.4752T>G (p.Tyr1584Ter) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003389589] Chr4:122243863 [GRCh38]
Chr4:123165018 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.12997+1G>T single nucleotide variant Alkuraya-Kucinskas syndrome [RCV004796535] Chr4:122344562 [GRCh38]
Chr4:123265717 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2736C>T (p.Tyr912=) single nucleotide variant BLTP1-related disorder [RCV003980924]|not provided [RCV003435147] Chr4:122224620 [GRCh38]
Chr4:123145775 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.14166A>G (p.Ser4722=) single nucleotide variant BLTP1-related disorder [RCV003908948]|not provided [RCV003435150] Chr4:122352956 [GRCh38]
Chr4:123274111 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.11393C>T (p.Pro3798Leu) single nucleotide variant BLTP1-related disorder [RCV003919193]|not provided [RCV003435149]|not specified [RCV004364598] Chr4:122328237 [GRCh38]
Chr4:123249392 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.1554A>C (p.Pro518=) single nucleotide variant not provided [RCV003439487] Chr4:122207165 [GRCh38]
Chr4:123128320 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.10312+2T>C single nucleotide variant BLTP1-related disorder [RCV003402515] Chr4:122313689 [GRCh38]
Chr4:123234844 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.9188A>G (p.His3063Arg) single nucleotide variant BLTP1-related disorder [RCV003392896]|not specified [RCV004362875] Chr4:122286691 [GRCh38]
Chr4:123207846 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11396T>C (p.Phe3799Ser) single nucleotide variant BLTP1-related disorder [RCV003399885] Chr4:122328240 [GRCh38]
Chr4:123249395 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12997G>A (p.Ala4333Thr) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003777336] Chr4:122344561 [GRCh38]
Chr4:123265716 [GRCh37]
Chr4:4q27
pathogenic
NM_001384125.1(BLTP1):c.1752+2T>G single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003594708] Chr4:122207640 [GRCh38]
Chr4:123128795 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.3674G>A (p.Arg1225Gln) single nucleotide variant not provided [RCV003542546] Chr4:122238191 [GRCh38]
Chr4:123159346 [GRCh37]
Chr4:4q27
uncertain significance
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2
pathogenic
NM_001384125.1(BLTP1):c.6381C>T (p.Ser2127=) single nucleotide variant BLTP1-related disorder [RCV003942295] Chr4:122257257 [GRCh38]
Chr4:123178412 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.2772A>C (p.Thr924=) single nucleotide variant BLTP1-related disorder [RCV003893937] Chr4:122224656 [GRCh38]
Chr4:123145811 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.13989G>A (p.Lys4663=) single nucleotide variant BLTP1-related disorder [RCV003967075] Chr4:122349950 [GRCh38]
Chr4:123271105 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.3396C>T (p.Gly1132=) single nucleotide variant BLTP1-related disorder [RCV003904298] Chr4:122234845 [GRCh38]
Chr4:123156000 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.165T>C (p.Ile55=) single nucleotide variant BLTP1-related disorder [RCV003942054] Chr4:122173103 [GRCh38]
Chr4:123094258 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.8162G>T (p.Gly2721Val) single nucleotide variant not provided [RCV003884911] Chr4:122271686 [GRCh38]
Chr4:123192841 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1422G>A (p.Pro474=) single nucleotide variant BLTP1-related disorder [RCV003958934] Chr4:122201050 [GRCh38]
Chr4:123122205 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.4749G>A (p.Pro1583=) single nucleotide variant BLTP1-related disorder [RCV003958920] Chr4:122243860 [GRCh38]
Chr4:123165015 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.408T>C (p.Phe136=) single nucleotide variant BLTP1-related disorder [RCV003927149] Chr4:122186085 [GRCh38]
Chr4:123107240 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.1654G>A (p.Val552Met) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003990130] Chr4:122207265 [GRCh38]
Chr4:123128420 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3180A>C (p.Ala1060=) single nucleotide variant BLTP1-related disorder [RCV003946975] Chr4:122230068 [GRCh38]
Chr4:123151223 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.2096_2098del (p.Asp699_Arg700delinsGly) deletion not provided [RCV003886878] Chr4:122210944..122210946 [GRCh38]
Chr4:123132099..123132101 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4092A>T (p.Ser1364=) single nucleotide variant BLTP1-related disorder [RCV003901460] Chr4:122239774 [GRCh38]
Chr4:123160929 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.12981G>A (p.Thr4327=) single nucleotide variant BLTP1-related disorder [RCV003977057] Chr4:122344545 [GRCh38]
Chr4:123265700 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.9732A>G (p.Gly3244=) single nucleotide variant BLTP1-related disorder [RCV003902106] Chr4:122305936 [GRCh38]
Chr4:123227091 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.5784T>C (p.Gly1928=) single nucleotide variant BLTP1-related disorder [RCV003931499]|not provided [RCV004810595] Chr4:122250435 [GRCh38]
Chr4:123171590 [GRCh37]
Chr4:4q27
benign|likely benign
NM_001384125.1(BLTP1):c.2250A>G (p.Glu750=) single nucleotide variant BLTP1-related disorder [RCV003912057] Chr4:122219342 [GRCh38]
Chr4:123140497 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.8854A>G (p.Thr2952Ala) single nucleotide variant BLTP1-related disorder [RCV003964071] Chr4:122281591 [GRCh38]
Chr4:123202746 [GRCh37]
Chr4:4q27
likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2
pathogenic
NM_001384125.1(BLTP1):c.5126C>T (p.Thr1709Ile) single nucleotide variant BLTP1-related disorder [RCV003951963] Chr4:122246240 [GRCh38]
Chr4:123167395 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.6378+10T>C single nucleotide variant BLTP1-related disorder [RCV003916802] Chr4:122255293 [GRCh38]
Chr4:123176448 [GRCh37]
Chr4:4q27
benign
NM_001384125.1(BLTP1):c.15G>A (p.Lys5=) single nucleotide variant BLTP1-related disorder [RCV003929631] Chr4:122170662 [GRCh38]
Chr4:123091817 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.13438GCA[1] (p.Ala4481del) microsatellite not provided [RCV003885062] Chr4:122348610..122348612 [GRCh38]
Chr4:123269765..123269767 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.14957T>C (p.Ile4986Thr) single nucleotide variant BLTP1-related disorder [RCV003968981]|not specified [RCV004369873] Chr4:122359614 [GRCh38]
Chr4:123280769 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.5711-11del deletion BLTP1-related disorder [RCV003946814] Chr4:122250344 [GRCh38]
Chr4:123171499 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.660G>T (p.Pro220=) single nucleotide variant BLTP1-related disorder [RCV003951816] Chr4:122187927 [GRCh38]
Chr4:123109082 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.4221T>C (p.Asp1407=) single nucleotide variant BLTP1-related disorder [RCV003966856] Chr4:122239903 [GRCh38]
Chr4:123161058 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.2721C>T (p.Ser907=) single nucleotide variant not provided [RCV004554973] Chr4:122224605 [GRCh38]
Chr4:123145760 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11342G>C (p.Cys3781Ser) single nucleotide variant BLTP1-related disorder [RCV003981713]|not specified [RCV004369909] Chr4:122328186 [GRCh38]
Chr4:123249341 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.8991G>A (p.Leu2997=) single nucleotide variant BLTP1-related disorder [RCV003981675] Chr4:122281728 [GRCh38]
Chr4:123202883 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.747T>C (p.Ile249=) single nucleotide variant BLTP1-related disorder [RCV003912097] Chr4:122188014 [GRCh38]
Chr4:123109169 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.9672+8C>T single nucleotide variant BLTP1-related disorder [RCV003912099] Chr4:122304991 [GRCh38]
Chr4:123226146 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.7209A>G (p.Gln2403=) single nucleotide variant BLTP1-related disorder [RCV003899246] Chr4:122264319 [GRCh38]
Chr4:123185474 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.15267C>T (p.Asp5089=) single nucleotide variant BLTP1-related disorder [RCV003904106] Chr4:122362232 [GRCh38]
Chr4:123283387 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.12514C>T (p.Leu4172=) single nucleotide variant BLTP1-related disorder [RCV003893730] Chr4:122339306 [GRCh38]
Chr4:123260461 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.6963T>C (p.Ser2321=) single nucleotide variant BLTP1-related disorder [RCV003934299] Chr4:122262964 [GRCh38]
Chr4:123184119 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.9568C>T (p.Arg3190Ter) single nucleotide variant BLTP1-related disorder [RCV003934323] Chr4:122304879 [GRCh38]
Chr4:123226034 [GRCh37]
Chr4:4q27
likely pathogenic
NM_001384125.1(BLTP1):c.3925C>T (p.Arg1309Ter) single nucleotide variant Alkuraya-Kucinskas syndrome [RCV003988584] Chr4:122239607 [GRCh38]
Chr4:123160762 [GRCh37]
Chr4:4q27
pathogenic
NM_001384125.1(BLTP1):c.3762A>G (p.Ser1254=) single nucleotide variant BLTP1-related disorder [RCV003894497] Chr4:122238279 [GRCh38]
Chr4:123159434 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.13941A>G (p.Val4647=) single nucleotide variant BLTP1-related disorder [RCV003924259] Chr4:122349902 [GRCh38]
Chr4:123271057 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.1189T>C (p.Leu397=) single nucleotide variant BLTP1-related disorder [RCV003901407] Chr4:122196771 [GRCh38]
Chr4:123117926 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.5076G>A (p.Glu1692=) single nucleotide variant BLTP1-related disorder [RCV003969537] Chr4:122246190 [GRCh38]
Chr4:123167345 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.2919C>T (p.Ser973=) single nucleotide variant BLTP1-related disorder [RCV003898916] Chr4:122226832 [GRCh38]
Chr4:123147987 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.10515T>C (p.Asp3505=) single nucleotide variant not provided [RCV003992998] Chr4:122315664 [GRCh38]
Chr4:123236819 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.11572C>T (p.Arg3858Cys) single nucleotide variant BLTP1-related disorder [RCV003977353]|not specified [RCV004369918] Chr4:122331384 [GRCh38]
Chr4:123252539 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.4032T>C (p.Asp1344=) single nucleotide variant BLTP1-related disorder [RCV003969834] Chr4:122239714 [GRCh38]
Chr4:123160869 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.14589T>C (p.Asn4863=) single nucleotide variant BLTP1-related disorder [RCV003949275] Chr4:122355815 [GRCh38]
Chr4:123276970 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.1029T>C (p.Tyr343=) single nucleotide variant BLTP1-related disorder [RCV003913819] Chr4:122192356 [GRCh38]
Chr4:123113511 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.9201G>A (p.Ser3067=) single nucleotide variant BLTP1-related disorder [RCV003914449] Chr4:122286704 [GRCh38]
Chr4:123207859 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.11904T>C (p.Asp3968=) single nucleotide variant BLTP1-related disorder [RCV003901582] Chr4:122333803 [GRCh38]
Chr4:123254958 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.1655-11_1655-10del deletion BLTP1-related disorder [RCV003914660] Chr4:122207515..122207516 [GRCh38]
Chr4:123128670..123128671 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.4162A>G (p.Met1388Val) single nucleotide variant not provided [RCV003885976] Chr4:122239844 [GRCh38]
Chr4:123160999 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13744A>G (p.Ile4582Val) single nucleotide variant not specified [RCV004431520] Chr4:122349491 [GRCh38]
Chr4:123270646 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13939G>A (p.Val4647Ile) single nucleotide variant not specified [RCV004431521] Chr4:122349900 [GRCh38]
Chr4:123271055 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1762G>A (p.Val588Ile) single nucleotide variant not specified [RCV004431529] Chr4:122209168 [GRCh38]
Chr4:123130323 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2177A>G (p.Glu726Gly) single nucleotide variant not specified [RCV004431534] Chr4:122211025 [GRCh38]
Chr4:123132180 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2198C>A (p.Ser733Tyr) single nucleotide variant not specified [RCV004431535] Chr4:122211046 [GRCh38]
Chr4:123132201 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2771C>G (p.Thr924Arg) single nucleotide variant not specified [RCV004431539] Chr4:122224655 [GRCh38]
Chr4:123145810 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3419T>G (p.Val1140Gly) single nucleotide variant not specified [RCV004431545] Chr4:122234868 [GRCh38]
Chr4:123156023 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3589A>G (p.Met1197Val) single nucleotide variant not specified [RCV004431547] Chr4:122238106 [GRCh38]
Chr4:123159261 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4543T>A (p.Trp1515Arg) single nucleotide variant not specified [RCV004431554] Chr4:122240225 [GRCh38]
Chr4:123161380 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.5776G>C (p.Glu1926Gln) single nucleotide variant not specified [RCV004431568] Chr4:122250427 [GRCh38]
Chr4:123171582 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.5858A>G (p.Asn1953Ser) single nucleotide variant not specified [RCV004431570] Chr4:122250509 [GRCh38]
Chr4:123171664 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.632G>A (p.Arg211His) single nucleotide variant not specified [RCV004431579] Chr4:122187899 [GRCh38]
Chr4:123109054 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.6345G>T (p.Gln2115His) single nucleotide variant not specified [RCV004431581] Chr4:122255250 [GRCh38]
Chr4:123176405 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7108G>T (p.Val2370Phe) single nucleotide variant not specified [RCV004431593] Chr4:122263567 [GRCh38]
Chr4:123184722 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7130G>C (p.Ser2377Thr) single nucleotide variant not specified [RCV004431594] Chr4:122263589 [GRCh38]
Chr4:123184744 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7511T>C (p.Leu2504Pro) single nucleotide variant not specified [RCV004431598] Chr4:122271035 [GRCh38]
Chr4:123192190 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7585G>A (p.Val2529Met) single nucleotide variant not specified [RCV004431600] Chr4:122271109 [GRCh38]
Chr4:123192264 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7751A>T (p.Asp2584Val) single nucleotide variant not specified [RCV004431605] Chr4:122271275 [GRCh38]
Chr4:123192430 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.8995G>A (p.Ala2999Thr) single nucleotide variant not specified [RCV004431612] Chr4:122281732 [GRCh38]
Chr4:123202887 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.9800A>G (p.Asn3267Ser) single nucleotide variant not specified [RCV004431614] Chr4:122306004 [GRCh38]
Chr4:123227159 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11440A>G (p.Ser3814Gly) single nucleotide variant not specified [RCV004431501] Chr4:122328284 [GRCh38]
Chr4:123249439 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12022G>A (p.Ala4008Thr) single nucleotide variant not specified [RCV004431504] Chr4:122334455 [GRCh38]
Chr4:123255610 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12050C>T (p.Pro4017Leu) single nucleotide variant not specified [RCV004431505] Chr4:122334483 [GRCh38]
Chr4:123255638 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12653G>T (p.Arg4218Leu) single nucleotide variant not specified [RCV004431509] Chr4:122343446 [GRCh38]
Chr4:123264601 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13312C>A (p.Pro4438Thr) single nucleotide variant not specified [RCV004431516] Chr4:122347698 [GRCh38]
Chr4:123268853 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.14486C>T (p.Thr4829Ile) single nucleotide variant not specified [RCV004431523] Chr4:122353934 [GRCh38]
Chr4:123275089 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2137A>G (p.Ile713Val) single nucleotide variant not specified [RCV004431533] Chr4:122210985 [GRCh38]
Chr4:123132140 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.2281G>A (p.Asp761Asn) single nucleotide variant not specified [RCV004431536] Chr4:122219373 [GRCh38]
Chr4:123140528 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2506A>G (p.Thr836Ala) single nucleotide variant not specified [RCV004431538] Chr4:122220363 [GRCh38]
Chr4:123141518 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2989G>A (p.Val997Ile) single nucleotide variant not specified [RCV004431542] Chr4:122229187 [GRCh38]
Chr4:123150342 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3020A>G (p.His1007Arg) single nucleotide variant not specified [RCV004431543] Chr4:122229218 [GRCh38]
Chr4:123150373 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3950G>A (p.Arg1317His) single nucleotide variant not specified [RCV004431551] Chr4:122239632 [GRCh38]
Chr4:123160787 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11383C>T (p.Pro3795Ser) single nucleotide variant not specified [RCV004431499] Chr4:122328227 [GRCh38]
Chr4:123249382 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13486A>G (p.Ile4496Val) single nucleotide variant not specified [RCV004431517] Chr4:122348659 [GRCh38]
Chr4:123269814 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1459A>T (p.Thr487Ser) single nucleotide variant not specified [RCV004431526] Chr4:122201087 [GRCh38]
Chr4:123122242 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4860A>T (p.Glu1620Asp) single nucleotide variant not specified [RCV004431559] Chr4:122243971 [GRCh38]
Chr4:123165126 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.5110G>A (p.Ala1704Thr) single nucleotide variant not specified [RCV004431564] Chr4:122246224 [GRCh38]
Chr4:123167379 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.591A>T (p.Arg197Ser) single nucleotide variant not specified [RCV004431571] Chr4:122187476 [GRCh38]
Chr4:123108631 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.6272C>A (p.Thr2091Lys) single nucleotide variant not specified [RCV004431575] Chr4:122255177 [GRCh38]
Chr4:123176332 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4955A>T (p.His1652Leu) single nucleotide variant not specified [RCV004431561] Chr4:122245058 [GRCh38]
Chr4:123166213 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.5092A>G (p.Thr1698Ala) single nucleotide variant not specified [RCV004431562] Chr4:122246206 [GRCh38]
Chr4:123167361 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.5821A>G (p.Thr1941Ala) single nucleotide variant not specified [RCV004431569] Chr4:122250472 [GRCh38]
Chr4:123171627 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.6092G>T (p.Ser2031Ile) single nucleotide variant not specified [RCV004431573] Chr4:122254822 [GRCh38]
Chr4:123175977 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.6332A>G (p.His2111Arg) single nucleotide variant not specified [RCV004431580] Chr4:122255237 [GRCh38]
Chr4:123176392 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.6928G>T (p.Gly2310Cys) single nucleotide variant not specified [RCV004431588] Chr4:122262929 [GRCh38]
Chr4:123184084 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.697A>C (p.Thr233Pro) single nucleotide variant not specified [RCV004431589] Chr4:122187964 [GRCh38]
Chr4:123109119 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7597C>G (p.Gln2533Glu) single nucleotide variant not specified [RCV004431601] Chr4:122271121 [GRCh38]
Chr4:123192276 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.6520G>A (p.Ala2174Thr) single nucleotide variant not specified [RCV004431584] Chr4:122257396 [GRCh38]
Chr4:123178551 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7372C>T (p.Pro2458Ser) single nucleotide variant not specified [RCV004431595] Chr4:122266837 [GRCh38]
Chr4:123187992 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7508A>G (p.Asn2503Ser) single nucleotide variant not specified [RCV004431597] Chr4:122271032 [GRCh38]
Chr4:123192187 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7687A>G (p.Ile2563Val) single nucleotide variant not specified [RCV004431604] Chr4:122271211 [GRCh38]
Chr4:123192366 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7899T>A (p.Asn2633Lys) single nucleotide variant not specified [RCV004431608] Chr4:122271423 [GRCh38]
Chr4:123192578 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11144G>A (p.Arg3715His) single nucleotide variant not specified [RCV004431498] Chr4:122325268 [GRCh38]
Chr4:123246423 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12956A>T (p.Lys4319Met) single nucleotide variant not specified [RCV004431511] Chr4:122344520 [GRCh38]
Chr4:123265675 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1295C>A (p.Thr432Asn) single nucleotide variant not specified [RCV004431512] Chr4:122199365 [GRCh38]
Chr4:123120520 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1300G>T (p.Ala434Ser) single nucleotide variant not specified [RCV004431514] Chr4:122199370 [GRCh38]
Chr4:123120525 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13576C>T (p.Arg4526Cys) single nucleotide variant not specified [RCV004431518] Chr4:122349189 [GRCh38]
Chr4:123270344 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1999A>G (p.Ile667Val) single nucleotide variant not specified [RCV004431532] Chr4:122209885 [GRCh38]
Chr4:123131040 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2485A>T (p.Thr829Ser) single nucleotide variant not specified [RCV004431537] Chr4:122220342 [GRCh38]
Chr4:123141497 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2881A>G (p.Ile961Val) single nucleotide variant not specified [RCV004431541] Chr4:122226794 [GRCh38]
Chr4:123147949 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3551A>C (p.Lys1184Thr) single nucleotide variant not specified [RCV004431546] Chr4:122235000 [GRCh38]
Chr4:123156155 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.472A>G (p.Ile158Val) single nucleotide variant not specified [RCV004431557] Chr4:122186149 [GRCh38]
Chr4:123107304 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4949C>T (p.Thr1650Ile) single nucleotide variant not specified [RCV004431560] Chr4:122245052 [GRCh38]
Chr4:123166207 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.5341G>A (p.Ala1781Thr) single nucleotide variant not specified [RCV004431566] Chr4:122247186 [GRCh38]
Chr4:123168341 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.6494C>T (p.Pro2165Leu) single nucleotide variant not specified [RCV004431582] Chr4:122257370 [GRCh38]
Chr4:123178525 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.6565G>T (p.Gly2189Cys) single nucleotide variant not specified [RCV004431585] Chr4:122257441 [GRCh38]
Chr4:123178596 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.6827A>G (p.His2276Arg) single nucleotide variant not specified [RCV004431586] Chr4:122262828 [GRCh38]
Chr4:123183983 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7850G>A (p.Arg2617His) single nucleotide variant not specified [RCV004431607] Chr4:122271374 [GRCh38]
Chr4:123192529 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.9622A>C (p.Lys3208Gln) single nucleotide variant not specified [RCV004431613] Chr4:122304933 [GRCh38]
Chr4:123226088 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.9808A>G (p.Ile3270Val) single nucleotide variant not specified [RCV004431615] Chr4:122306012 [GRCh38]
Chr4:123227167 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.14641T>C (p.Leu4881=) single nucleotide variant not provided [RCV004546036] Chr4:122355867 [GRCh38]
Chr4:123277022 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.11417G>A (p.Arg3806Gln) single nucleotide variant not specified [RCV004431500] Chr4:122328261 [GRCh38]
Chr4:123249416 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13694A>G (p.Glu4565Gly) single nucleotide variant not specified [RCV004431519] Chr4:122349307 [GRCh38]
Chr4:123270462 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1421C>T (p.Pro474Leu) single nucleotide variant not specified [RCV004431522] Chr4:122201049 [GRCh38]
Chr4:123122204 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.14773C>G (p.Leu4925Val) single nucleotide variant not specified [RCV004431525] Chr4:122356629 [GRCh38]
Chr4:123277784 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.15211C>A (p.Leu5071Ile) single nucleotide variant not specified [RCV004431528] Chr4:122362176 [GRCh38]
Chr4:123283331 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1889A>G (p.Gln630Arg) single nucleotide variant not specified [RCV004431530] Chr4:122209295 [GRCh38]
Chr4:123130450 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3871C>T (p.Pro1291Ser) single nucleotide variant not specified [RCV004431550] Chr4:122239553 [GRCh38]
Chr4:123160708 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.410A>G (p.His137Arg) single nucleotide variant not specified [RCV004431552] Chr4:122186087 [GRCh38]
Chr4:123107242 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.5101C>G (p.Gln1701Glu) single nucleotide variant not specified [RCV004431563] Chr4:122246215 [GRCh38]
Chr4:123167370 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.5970G>T (p.Met1990Ile) single nucleotide variant not specified [RCV004431572] Chr4:122254242 [GRCh38]
Chr4:123175397 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.6512C>T (p.Pro2171Leu) single nucleotide variant not specified [RCV004431583] Chr4:122257388 [GRCh38]
Chr4:123178543 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7613C>T (p.Ala2538Val) single nucleotide variant not specified [RCV004431603] Chr4:122271137 [GRCh38]
Chr4:123192292 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11861C>G (p.Pro3954Arg) single nucleotide variant not specified [RCV004431503] Chr4:122333760 [GRCh38]
Chr4:123254915 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3841A>G (p.Thr1281Ala) single nucleotide variant not specified [RCV004431549] Chr4:122239523 [GRCh38]
Chr4:123160678 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4753A>G (p.Thr1585Ala) single nucleotide variant not specified [RCV004431558] Chr4:122243864 [GRCh38]
Chr4:123165019 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.625A>C (p.Thr209Pro) single nucleotide variant not specified [RCV004431574] Chr4:122187510 [GRCh38]
Chr4:123108665 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11006T>C (p.Leu3669Pro) single nucleotide variant not specified [RCV004431496] Chr4:122324437 [GRCh38]
Chr4:123245592 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11078C>A (p.Pro3693Gln) single nucleotide variant not specified [RCV004431497] Chr4:122324509 [GRCh38]
Chr4:123245664 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12305A>G (p.His4102Arg) single nucleotide variant not specified [RCV004431506] Chr4:122336911 [GRCh38]
Chr4:123258066 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12325A>G (p.Met4109Val) single nucleotide variant not specified [RCV004431507] Chr4:122336931 [GRCh38]
Chr4:123258086 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12934T>A (p.Phe4312Ile) single nucleotide variant not specified [RCV004431510] Chr4:122344498 [GRCh38]
Chr4:123265653 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13244C>T (p.Ala4415Val) single nucleotide variant not specified [RCV004431513] Chr4:122347630 [GRCh38]
Chr4:123268785 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.14689A>G (p.Ile4897Val) single nucleotide variant not specified [RCV004431524] Chr4:122355915 [GRCh38]
Chr4:123277070 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.14926A>G (p.Thr4976Ala) single nucleotide variant not specified [RCV004431527] Chr4:122359583 [GRCh38]
Chr4:123280738 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1943T>C (p.Val648Ala) single nucleotide variant not specified [RCV004431531] Chr4:122209829 [GRCh38]
Chr4:123130984 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.2867C>T (p.Pro956Leu) single nucleotide variant not specified [RCV004431540] Chr4:122226780 [GRCh38]
Chr4:123147935 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.330A>C (p.Lys110Asn) single nucleotide variant not specified [RCV004431544] Chr4:122175886 [GRCh38]
Chr4:123097041 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3748A>G (p.Lys1250Glu) single nucleotide variant not specified [RCV004431548] Chr4:122238265 [GRCh38]
Chr4:123159420 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4241C>T (p.Pro1414Leu) single nucleotide variant not specified [RCV004431553] Chr4:122239923 [GRCh38]
Chr4:123161078 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4595G>A (p.Arg1532His) single nucleotide variant not specified [RCV004431555] Chr4:122240277 [GRCh38]
Chr4:123161432 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4703T>C (p.Leu1568Ser) single nucleotide variant not specified [RCV004431556] Chr4:122243029 [GRCh38]
Chr4:123164184 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.512T>C (p.Ile171Thr) single nucleotide variant not specified [RCV004431565] Chr4:122186189 [GRCh38]
Chr4:123107344 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.6283C>T (p.Arg2095Cys) single nucleotide variant not specified [RCV004431576] Chr4:122255188 [GRCh38]
Chr4:123176343 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.6284G>A (p.Arg2095His) single nucleotide variant not specified [RCV004431578] Chr4:122255189 [GRCh38]
Chr4:123176344 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.6994G>A (p.Ala2332Thr) single nucleotide variant not specified [RCV004431591] Chr4:122263453 [GRCh38]
Chr4:123184608 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7090G>A (p.Val2364Met) single nucleotide variant not specified [RCV004431592] Chr4:122263549 [GRCh38]
Chr4:123184704 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7542G>A (p.Met2514Ile) single nucleotide variant not specified [RCV004431599] Chr4:122271066 [GRCh38]
Chr4:123192221 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7604C>G (p.Ser2535Cys) single nucleotide variant not specified [RCV004431602] Chr4:122271128 [GRCh38]
Chr4:123192283 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7819A>G (p.Thr2607Ala) single nucleotide variant not specified [RCV004431606] Chr4:122271343 [GRCh38]
Chr4:123192498 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.8960T>C (p.Ile2987Thr) single nucleotide variant not specified [RCV004431611] Chr4:122281697 [GRCh38]
Chr4:123202852 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.6835C>T (p.Arg2279Cys) single nucleotide variant not provided [RCV004721806]|not specified [RCV004431587] Chr4:122262836 [GRCh38]
Chr4:123183991 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.697A>G (p.Thr233Ala) single nucleotide variant not specified [RCV004431590] Chr4:122187964 [GRCh38]
Chr4:123109119 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.7469A>G (p.Glu2490Gly) single nucleotide variant not specified [RCV004431596] Chr4:122266934 [GRCh38]
Chr4:123188089 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.8257A>G (p.Asn2753Asp) single nucleotide variant not specified [RCV004431609] Chr4:122272216 [GRCh38]
Chr4:123193371 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.8851C>G (p.Pro2951Ala) single nucleotide variant not specified [RCV004431610] Chr4:122281588 [GRCh38]
Chr4:123202743 [GRCh37]
Chr4:4q27
uncertain significance
NC_000004.11:g.(?_121616266)_(124323706_?)del deletion not provided [RCV004580860] Chr4:121616266..124323706 [GRCh37]
Chr4:4q27-28.1
uncertain significance
NM_001384125.1(BLTP1):c.4970T>C (p.Val1657Ala) single nucleotide variant not specified [RCV004600422] Chr4:122245073 [GRCh38]
Chr4:123166228 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3670T>G (p.Leu1224Val) single nucleotide variant not specified [RCV004600424] Chr4:122238187 [GRCh38]
Chr4:123159342 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2621C>A (p.Pro874His) single nucleotide variant not specified [RCV004600435] Chr4:122224505 [GRCh38]
Chr4:123145660 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2957A>G (p.Asp986Gly) single nucleotide variant not specified [RCV004600442] Chr4:122229155 [GRCh38]
Chr4:123150310 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12578G>A (p.Ser4193Asn) single nucleotide variant not specified [RCV004600417] Chr4:122339370 [GRCh38]
Chr4:123260525 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2465G>A (p.Arg822His) single nucleotide variant not specified [RCV004600418] Chr4:122219557 [GRCh38]
Chr4:123140712 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13384C>T (p.Pro4462Ser) single nucleotide variant not specified [RCV004600425] Chr4:122347770 [GRCh38]
Chr4:123268925 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.1667C>T (p.Ala556Val) single nucleotide variant not specified [RCV004600426] Chr4:122207553 [GRCh38]
Chr4:123128708 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3568A>G (p.Ile1190Val) single nucleotide variant not specified [RCV004600429] Chr4:122235017 [GRCh38]
Chr4:123156172 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.4774G>A (p.Ala1592Thr) single nucleotide variant not specified [RCV004600431] Chr4:122243885 [GRCh38]
Chr4:123165040 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.9327C>G (p.His3109Gln) single nucleotide variant not specified [RCV004600430] Chr4:122289131 [GRCh38]
Chr4:123210286 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3290A>G (p.His1097Arg) single nucleotide variant not specified [RCV004607065] Chr4:122230178 [GRCh38]
Chr4:123151333 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13124T>C (p.Ile4375Thr) single nucleotide variant not specified [RCV004607066] Chr4:122346749 [GRCh38]
Chr4:123267904 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.776T>G (p.Val259Gly) single nucleotide variant not specified [RCV004607067] Chr4:122188043 [GRCh38]
Chr4:123109198 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12349G>T (p.Val4117Leu) single nucleotide variant not specified [RCV004607068] Chr4:122336955 [GRCh38]
Chr4:123258110 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3631G>A (p.Val1211Ile) single nucleotide variant not specified [RCV004600420] Chr4:122238148 [GRCh38]
Chr4:123159303 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.5313A>G (p.Arg1771=) single nucleotide variant not specified [RCV004600421] Chr4:122247158 [GRCh38]
Chr4:123168313 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.12053C>T (p.Ser4018Phe) single nucleotide variant not specified [RCV004600433] Chr4:122334486 [GRCh38]
Chr4:123255641 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2414T>G (p.Leu805Trp) single nucleotide variant not provided [RCV004696716] Chr4:122219506 [GRCh38]
Chr4:123140661 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13660G>A (p.Val4554Ile) single nucleotide variant not specified [RCV004600432] Chr4:122349273 [GRCh38]
Chr4:123270428 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.4423G>C (p.Val1475Leu) single nucleotide variant not specified [RCV004600436] Chr4:122240105 [GRCh38]
Chr4:123161260 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.8728A>G (p.Ser2910Gly) single nucleotide variant not specified [RCV004600439] Chr4:122279911 [GRCh38]
Chr4:123201066 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.3031A>G (p.Thr1011Ala) single nucleotide variant not specified [RCV004600423] Chr4:122229229 [GRCh38]
Chr4:123150384 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13624G>C (p.Gly4542Arg) single nucleotide variant not specified [RCV004600434] Chr4:122349237 [GRCh38]
Chr4:123270392 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.14254A>G (p.Thr4752Ala) single nucleotide variant not specified [RCV004600440] Chr4:122353044 [GRCh38]
Chr4:123274199 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.13039C>T (p.Arg4347Cys) single nucleotide variant not specified [RCV004600441] Chr4:122346664 [GRCh38]
Chr4:123267819 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11584A>C (p.Thr3862Pro) single nucleotide variant not provided [RCV004696717] Chr4:122331396 [GRCh38]
Chr4:123252551 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12590C>G (p.Thr4197Ser) single nucleotide variant not specified [RCV004600437] Chr4:122339382 [GRCh38]
Chr4:123260537 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.5969T>C (p.Met1990Thr) single nucleotide variant not provided [RCV004770690] Chr4:122254241 [GRCh38]
Chr4:123175396 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.702T>C (p.Tyr234=) single nucleotide variant not provided [RCV004810129] Chr4:122187969 [GRCh38]
Chr4:123109124 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.2019T>G (p.Asp673Glu) single nucleotide variant not provided [RCV004774028] Chr4:122209905 [GRCh38]
Chr4:123131060 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.5633T>C (p.Val1878Ala) single nucleotide variant BLTP1-related disorder [RCV004754143] Chr4:122249605 [GRCh38]
Chr4:123170760 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.2129G>A (p.Arg710His) single nucleotide variant not provided [RCV004762892]   uncertain significance
NM_001384125.1(BLTP1):c.4733C>A (p.Ser1578Ter) single nucleotide variant not provided [RCV004762893]   likely pathogenic
NM_001384125.1(BLTP1):c.1997C>A (p.Pro666Gln) single nucleotide variant not provided [RCV004722646] Chr4:122209883 [GRCh38]
Chr4:123131038 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.11016G>A (p.Lys3672=) single nucleotide variant BLTP1-related disorder [RCV004731817] Chr4:122324447 [GRCh38]
Chr4:123245602 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.7317+5G>A single nucleotide variant BLTP1-related disorder [RCV004753785] Chr4:122264432 [GRCh38]
Chr4:123185587 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.261A>G (p.Glu87=) single nucleotide variant BLTP1-related disorder [RCV004753937] Chr4:122174620 [GRCh38]
Chr4:123095775 [GRCh37]
Chr4:4q27
likely benign
NM_001384125.1(BLTP1):c.1925A>G (p.Gln642Arg) single nucleotide variant not provided [RCV004774027] Chr4:122209331 [GRCh38]
Chr4:123130486 [GRCh37]
Chr4:4q27
uncertain significance
NM_001384125.1(BLTP1):c.12553T>A (p.Ser4185Thr) single nucleotide variant not provided [RCV004722410] Chr4:122339345 [GRCh38]
Chr4:123260500 [GRCh37]
Chr4:4q27
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1915
Count of miRNA genes:803
Interacting mature miRNAs:946
Transcripts:ENST00000264501, ENST00000306802, ENST00000388738, ENST00000419325, ENST00000421930, ENST00000424425, ENST00000438707, ENST00000442707, ENST00000446180, ENST00000449251, ENST00000455637, ENST00000470182, ENST00000480651, ENST00000482114, ENST00000483357, ENST00000491933, ENST00000495260
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
597220505GWAS1316579_Hbipolar I disorder QTL GWAS1316579 (human)2e-09bipolar disorder4122154852122154853Human
597275419GWAS1371493_Hinsomnia QTL GWAS1371493 (human)2e-10insomnia4122265238122265239Human
597275418GWAS1371492_Hinsomnia QTL GWAS1371492 (human)1e-08insomnia4122259374122259375Human
597118993GWAS1215067_Hbipolar disorder, inflammatory bowel disease QTL GWAS1215067 (human)8e-14bipolar disorder, inflammatory bowel disease4122154852122154853Human
597402652GWAS1498726_Hulcerative colitis QTL GWAS1498726 (human)5e-10ulcerative colitis4122240464122240465Human
597073183GWAS1169257_Hfeeling "fed-up" measurement QTL GWAS1169257 (human)2e-08feeling "fed-up" measurement4122201701122201702Human
597065247GWAS1161321_Htype 1 diabetes mellitus QTL GWAS1161321 (human)6e-13type 1 diabetes mellitus4122322441122322442Human
597053340GWAS1149414_Hhousehold income QTL GWAS1149414 (human)5e-09household income4122175535122175536Human
407387330GWAS1036306_Hmean platelet volume QTL GWAS1036306 (human)8e-10mean platelet volumemean platelet volume (CMO:0001348)4122263672122263673Human
407369676GWAS1018652_Hceliac disease QTL GWAS1018652 (human)1e-08celiac disease4122340375122340376Human
597233429GWAS1329503_Hmajor depressive disorder QTL GWAS1329503 (human)3e-24major depressive disorder4122201701122201702Human
597403543GWAS1499617_Hinflammatory bowel disease QTL GWAS1499617 (human)2e-13inflammatory bowel disease4122240464122240465Human
407002574GWAS651550_Heosinophil percentage of leukocytes QTL GWAS651550 (human)3e-41eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)4122263256122263257Human
597141275GWAS1237349_Hmajor depressive disorder QTL GWAS1237349 (human)3e-08major depressive disorder4122265238122265239Human
597199892GWAS1295966_Hpost-traumatic stress disorder QTL GWAS1295966 (human)7e-09post-traumatic stress disorder4122265238122265239Human
597062555GWAS1158629_Hdepressive symptom measurement QTL GWAS1158629 (human)4e-09depressive symptom measurement4122201701122201702Human
597057048GWAS1153122_Heosinophil count QTL GWAS1153122 (human)5e-23eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)4122263256122263257Human
407001293GWAS650269_Hceliac disease QTL GWAS650269 (human)3e-11celiac disease4122194347122194348Human
597046169GWAS1142243_Hatopic asthma QTL GWAS1142243 (human)5e-16atopic asthma4122219915122219916Human
597087878GWAS1183952_Hmean platelet volume QTL GWAS1183952 (human)3e-24mean platelet volumemean platelet volume (CMO:0001348)4122271085122271086Human
597087877GWAS1183951_Hmean platelet volume QTL GWAS1183951 (human)2e-13mean platelet volumemean platelet volume (CMO:0001348)4122258745122258746Human
597057666GWAS1153740_HEczematoid dermatitis, allergic rhinitis QTL GWAS1153740 (human)6e-20Eczematoid dermatitis, allergic rhinitis4122219915122219916Human
597063040GWAS1159114_Hdepressive symptom measurement QTL GWAS1159114 (human)3e-09depressive symptom measurement4122265238122265239Human
596950540GWAS1070059_Hmajor depressive disorder QTL GWAS1070059 (human)2e-10depressive symptom measurement4122201701122201702Human
407384400GWAS1033376_Heosinophil count QTL GWAS1033376 (human)9e-10eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)4122265396122265397Human
597081742GWAS1177816_Hmean platelet volume QTL GWAS1177816 (human)1e-32mean platelet volumemean platelet volume (CMO:0001348)4122271085122271086Human
407376465GWAS1025441_Hasthma QTL GWAS1025441 (human)1e-12asthma4122219915122219916Human
407371229GWAS1020205_Hunipolar depression QTL GWAS1020205 (human)3e-24unipolar depression4122201701122201702Human
597113613GWAS1209687_Hmajor depressive disorder QTL GWAS1209687 (human)8e-21major depressive disorder4122265238122265239Human
596964021GWAS1083540_Hallergic disease QTL GWAS1083540 (human)7e-13allergic disease4122219915122219916Human
597611455GWAS1668315_Hmean platelet volume QTL GWAS1668315 (human)2e-12mean platelet volumemean platelet volume (CMO:0001348)4122271085122271086Human
597204538GWAS1300612_Hasthma QTL GWAS1300612 (human)5e-14asthma4122219915122219916Human
597601977GWAS1658837_Hmean platelet volume QTL GWAS1658837 (human)3e-27mean platelet volumemean platelet volume (CMO:0001348)4122271085122271086Human
597052350GWAS1148424_Hchildhood onset asthma QTL GWAS1148424 (human)9e-12childhood onset asthma4122219915122219916Human
597087293GWAS1183367_Hallergic disease QTL GWAS1183367 (human)7e-13asthma4122219915122219916Human
406924141GWAS573117_Hceliac disease QTL GWAS573117 (human)2e-27celiac disease4122194347122194348Human
597185845GWAS1281919_Hmajor depressive disorder QTL GWAS1281919 (human)5e-12major depressive disorder4122265238122265239Human
406889198GWAS538174_Htype 1 diabetes mellitus QTL GWAS538174 (human)5e-13type 1 diabetes mellitus4122211337122211338Human
407035628GWAS684604_Hunipolar depression QTL GWAS684604 (human)5e-12unipolar depression4122265238122265239Human
407379431GWAS1028407_Hunipolar depression QTL GWAS1028407 (human)2e-10depressive symptom measurement4122201701122201702Human
597610287GWAS1667147_Hmean platelet volume QTL GWAS1667147 (human)2e-13mean platelet volumemean platelet volume (CMO:0001348)4122271085122271086Human
597070372GWAS1166446_Hmosquito bite reaction size measurement QTL GWAS1166446 (human)0.0000003mosquito bite reaction size measurement4122182953122182955Human
596964262GWAS1083781_Hmood disorder, major depressive disorder QTL GWAS1083781 (human)1e-10mood disorder, major depressive disorder4122201701122201702Human
597089954GWAS1186028_Hmean reticulocyte volume QTL GWAS1186028 (human)6e-11reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)4122215361122215362Human
597051054GWAS1147128_Hmood disorder, major depressive disorder QTL GWAS1147128 (human)1e-10mood disorder, major depressive disorder4122201701122201702Human
597087150GWAS1183224_Hallergic disease, age at onset QTL GWAS1183224 (human)2e-08allergic disease, age at onset4122219915122219916Human
597132591GWAS1228665_Hbone density QTL GWAS1228665 (human)6e-12bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)4122289915122289916Human
597338915GWAS1434989_Hneuroticism measurement, cognitive function measurement QTL GWAS1434989 (human)4e-14neuroticism measurement, cognitive function measurement4122201701122201702Human
407043320GWAS692296_Hunipolar depression, irritable bowel syndrome QTL GWAS692296 (human)3e-09unipolar depression, irritable bowel syndrome4122201701122201702Human
597229346GWAS1325420_Hasthma QTL GWAS1325420 (human)6e-19asthma4122219915122219916Human
597338149GWAS1434223_Hirritable bowel syndrome, major depressive disorder QTL GWAS1434223 (human)3e-09irritable bowel syndrome, major depressive disorder4122201701122201702Human
597031978GWAS1128052_Hmood instability measurement QTL GWAS1128052 (human)3e-08mood instability measurement4122258745122258746Human
597251419GWAS1347493_Hrheumatoid arthritis QTL GWAS1347493 (human)0.0000007rheumatoid arthritis4122297158122297159Human
597212634GWAS1308708_Hceliac disease QTL GWAS1308708 (human)4e-11celiac disease4122345366122345367Human
597188572GWAS1284646_Heducational attainment QTL GWAS1284646 (human)5e-11educational attainment4122259374122259375Human
596975056GWAS1094575_Hmajor depressive disorder QTL GWAS1094575 (human)3e-24major depressive disorder4122201701122201702Human
597116626GWAS1212700_Hatopic eczema QTL GWAS1212700 (human)9e-11atopic eczema4122219899122219900Human
597118673GWAS1214747_Hbipolar disorder, ulcerative colitis QTL GWAS1214747 (human)2e-12bipolar disorder, ulcerative colitis4122154852122154853Human
597049311GWAS1145385_Hmajor depressive disorder QTL GWAS1145385 (human)2e-10depressive symptom measurement4122201701122201702Human
597141086GWAS1237160_Hirritable bowel syndrome QTL GWAS1237160 (human)3e-08irritable bowel syndrome4122201701122201702Human
597605077GWAS1661937_Hmean platelet volume QTL GWAS1661937 (human)7e-21mean platelet volumemean platelet volume (CMO:0001348)4122271085122271086Human
597151430GWAS1247504_Hlifestyle measurement, anxiety disorder measurement QTL GWAS1247504 (human)5e-13anxiety-related behavior trait (VT:0010716)4122322628122322629Human
407377563GWAS1026539_Hasthma QTL GWAS1026539 (human)2e-08asthma4122194117122194118Human
597050435GWAS1146509_HEczematoid dermatitis QTL GWAS1146509 (human)2e-26Eczematoid dermatitis4122219915122219916Human
596973507GWAS1093026_Hmajor depressive disorder QTL GWAS1093026 (human)3e-08major depressive disorder4122265238122265239Human
407407889GWAS1056865_Hunipolar depression QTL GWAS1056865 (human)3e-08unipolar depression4122265238122265239Human
597071308GWAS1167382_Hmosquito bite reaction itch intensity measurement QTL GWAS1167382 (human)3e-09mosquito bite reaction itch intensity measurement4122182953122182955Human
597144781GWAS1240855_Hage of onset of childhood onset asthma QTL GWAS1240855 (human)6e-16age of onset of childhood onset asthma4122307075122307076Human
597375936GWAS1472010_Htype 1 diabetes mellitus QTL GWAS1472010 (human)0.000002type 1 diabetes mellitus4122277280122277281Human
597071309GWAS1167383_Hmosquito bite reaction itch intensity measurement QTL GWAS1167383 (human)4e-09mosquito bite reaction itch intensity measurement4122359705122359706Human
407379095GWAS1028071_Hunipolar depression, mood disorder QTL GWAS1028071 (human)1e-10unipolar depression, mood disorder4122201701122201702Human
1643256BW127_HBody Weight QTL 127 (human)1.310.007Body weightbody mass index4106319694132319694Human
597085684GWAS1181758_Hmean platelet volume QTL GWAS1181758 (human)3e-29mean platelet volumemean platelet volume (CMO:0001348)4122271085122271086Human
597205756GWAS1301830_Hgeneralized anxiety disorder QTL GWAS1301830 (human)4e-08generalized anxiety disorder4122265238122265239Human
407222049GWAS871025_Hatopic eczema, psoriasis QTL GWAS871025 (human)0.000001atopic eczema, psoriasis4122335010122335011Human
596971506GWAS1091025_Hmajor depressive disorder QTL GWAS1091025 (human)8e-21major depressive disorder4122265238122265239Human
597402355GWAS1498429_HCrohn's disease QTL GWAS1498429 (human)2e-09intestine integrity trait (VT:0010554)4122240464122240465Human
597308659GWAS1404733_Htotal blood protein measurement QTL GWAS1404733 (human)8e-13total blood protein measurementblood protein measurement (CMO:0000028)4122243645122243646Human
597376881GWAS1472955_Hinflammatory bowel disease QTL GWAS1472955 (human)3e-13inflammatory bowel disease4122240464122240465Human
597031422GWAS1127496_Hasthma, allergic disease QTL GWAS1127496 (human)4e-10asthma, allergic disease4122219899122219900Human
597348855GWAS1444929_Hatopic eczema QTL GWAS1444929 (human)1e-14atopic eczema4122263256122263257Human
597122809GWAS1218883_Hbipolar disorder, Crohn's disease QTL GWAS1218883 (human)4e-12intestine integrity trait (VT:0010554)4122154852122154853Human
596973946GWAS1093465_Hmajor depressive disorder QTL GWAS1093465 (human)5e-12major depressive disorder4122265238122265239Human
407404602GWAS1053578_Hunipolar depression QTL GWAS1053578 (human)8e-21unipolar depression4122265238122265239Human
597072750GWAS1168824_Hfeeling miserable measurement QTL GWAS1168824 (human)1e-08feeling miserable measurement4122265238122265239Human
597603557GWAS1660417_Hmean platelet volume QTL GWAS1660417 (human)7e-27mean platelet volumemean platelet volume (CMO:0001348)4122271085122271086Human
596973289GWAS1092808_Hirritable bowel syndrome, major depressive disorder QTL GWAS1092808 (human)3e-09irritable bowel syndrome, major depressive disorder4122201701122201702Human

Markers in Region
D4S3100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374123,283,653 - 123,283,786UniSTSGRCh37
Build 364123,503,103 - 123,503,236RGDNCBI36
Celera4120,667,079 - 120,667,212RGD
Cytogenetic Map4q27UniSTS
HuRef4119,010,101 - 119,010,234UniSTS
TNG Radiation Hybrid Map476599.0UniSTS
GeneMap99-GB4 RH Map4557.41UniSTS
Whitehead-RH Map4606.1UniSTS
Whitehead-YAC Contig Map4 UniSTS
RH122843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374123,095,750 - 123,096,076UniSTSGRCh37
Build 364123,315,200 - 123,315,526RGDNCBI36
Celera4120,479,344 - 120,479,670RGD
Cytogenetic Map4q27UniSTS
HuRef4118,822,158 - 118,822,484UniSTS
TNG Radiation Hybrid Map476515.0UniSTS
D4S2477E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374123,229,222 - 123,229,301UniSTSGRCh37
Build 364123,448,672 - 123,448,751RGDNCBI36
Celera4120,612,642 - 120,612,721RGD
Cytogenetic Map4q27UniSTS
HuRef4118,955,660 - 118,955,739UniSTS
D4S2628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374123,137,065 - 123,137,332UniSTSGRCh37
Build 364123,356,515 - 123,356,782RGDNCBI36
Celera4120,520,581 - 120,520,852RGD
Cytogenetic Map4q27UniSTS
HuRef4118,863,470 - 118,863,737UniSTS
TNG Radiation Hybrid Map476561.0UniSTS
Whitehead-RH Map4604.5UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC-67953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374123,199,165 - 123,199,299UniSTSGRCh37
Build 364123,418,615 - 123,418,749RGDNCBI36
Celera4120,582,479 - 120,582,613RGD
Cytogenetic Map4q27UniSTS
HuRef4118,925,590 - 118,925,724UniSTS
TNG Radiation Hybrid Map476582.0UniSTS
GeneMap99-GB4 RH Map4558.46UniSTS
NCBI RH Map41260.9UniSTS
SHGC-50429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374123,136,999 - 123,137,341UniSTSGRCh37
Build 364123,356,449 - 123,356,791RGDNCBI36
Celera4120,520,515 - 120,520,861RGD
Cytogenetic Map4q27UniSTS
HuRef4118,863,404 - 118,863,746UniSTS
TNG Radiation Hybrid Map476557.0UniSTS
G54558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374123,108,396 - 123,108,667UniSTSGRCh37
Celera4120,491,990 - 120,492,261UniSTS
Cytogenetic Map4q27UniSTS
HuRef4118,834,803 - 118,835,074UniSTS


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 2250 4972 1726 2351 5 623 1950 465 2270 7301 6468 53 3732 1 852 1743 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB029032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB037792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC127089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA413044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ335469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264501   ⟹   ENSP00000264501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,152,333 - 122,362,752 (+)Ensembl
Ensembl Acc Id: ENST00000306802   ⟹   ENSP00000304374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,324,464 - 122,362,752 (+)Ensembl
Ensembl Acc Id: ENST00000388738   ⟹   ENSP00000373390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,152,383 - 122,362,707 (+)Ensembl
Ensembl Acc Id: ENST00000419325   ⟹   ENSP00000393219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,254,859 - 122,325,784 (+)Ensembl
Ensembl Acc Id: ENST00000421930   ⟹   ENSP00000408229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,309,266 - 122,316,794 (+)Ensembl
Ensembl Acc Id: ENST00000424425   ⟹   ENSP00000398039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,210,945 - 122,239,949 (+)Ensembl
Ensembl Acc Id: ENST00000438707   ⟹   ENSP00000410874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,309,365 - 122,362,750 (+)Ensembl
Ensembl Acc Id: ENST00000442707   ⟹   ENSP00000397543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,339,221 - 122,344,611 (+)Ensembl
Ensembl Acc Id: ENST00000446180   ⟹   ENSP00000394909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,239,965 - 122,276,189 (+)Ensembl
Ensembl Acc Id: ENST00000449251   ⟹   ENSP00000413018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,219,469 - 122,229,195 (+)Ensembl
Ensembl Acc Id: ENST00000470182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,246,220 - 122,247,688 (+)Ensembl
Ensembl Acc Id: ENST00000480651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,327,872 - 122,333,809 (+)Ensembl
Ensembl Acc Id: ENST00000482114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,209,174 - 122,227,747 (+)Ensembl
Ensembl Acc Id: ENST00000483357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,336,093 - 122,337,147 (+)Ensembl
Ensembl Acc Id: ENST00000491933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,348,840 - 122,351,354 (+)Ensembl
Ensembl Acc Id: ENST00000495260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,196,749 - 122,239,929 (+)Ensembl
Ensembl Acc Id: ENST00000679879   ⟹   ENSP00000505357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,152,331 - 122,362,752 (+)Ensembl
Ensembl Acc Id: ENST00000684873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,172,815 - 122,176,281 (+)Ensembl
Ensembl Acc Id: ENST00000684987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,152,383 - 122,362,745 (+)Ensembl
Ensembl Acc Id: ENST00000685587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,355,931 - 122,362,678 (+)Ensembl
Ensembl Acc Id: ENST00000685604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,348,565 - 122,362,712 (+)Ensembl
Ensembl Acc Id: ENST00000686040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,345,599 - 122,362,707 (+)Ensembl
Ensembl Acc Id: ENST00000686075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,152,383 - 122,274,563 (+)Ensembl
Ensembl Acc Id: ENST00000686093   ⟹   ENSP00000509672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,271,670 - 122,362,745 (+)Ensembl
Ensembl Acc Id: ENST00000686836   ⟹   ENSP00000510157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,301,350 - 122,362,745 (+)Ensembl
Ensembl Acc Id: ENST00000686950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,352,393 - 122,362,734 (+)Ensembl
Ensembl Acc Id: ENST00000687387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,346,339 - 122,362,745 (+)Ensembl
Ensembl Acc Id: ENST00000687476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,152,565 - 122,240,652 (+)Ensembl
Ensembl Acc Id: ENST00000688248   ⟹   ENSP00000508472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,281,673 - 122,362,707 (+)Ensembl
Ensembl Acc Id: ENST00000688322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,352,454 - 122,362,745 (+)Ensembl
Ensembl Acc Id: ENST00000688368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,152,397 - 122,171,977 (+)Ensembl
Ensembl Acc Id: ENST00000688823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,301,350 - 122,343,946 (+)Ensembl
Ensembl Acc Id: ENST00000688874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,345,814 - 122,362,707 (+)Ensembl
Ensembl Acc Id: ENST00000688884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,152,383 - 122,213,670 (+)Ensembl
Ensembl Acc Id: ENST00000689316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,217,710 - 122,239,949 (+)Ensembl
Ensembl Acc Id: ENST00000690050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,206,213 - 122,209,013 (+)Ensembl
Ensembl Acc Id: ENST00000690272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,152,416 - 122,188,253 (+)Ensembl
Ensembl Acc Id: ENST00000690536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,152,383 - 122,362,707 (+)Ensembl
Ensembl Acc Id: ENST00000691302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,353,582 - 122,357,552 (+)Ensembl
Ensembl Acc Id: ENST00000693334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,152,383 - 122,362,745 (+)Ensembl
Ensembl Acc Id: ENST00000693357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,346,918 - 122,364,167 (+)Ensembl
Ensembl Acc Id: ENST00000693420   ⟹   ENSP00000509435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4122,152,383 - 122,362,745 (+)Ensembl
RefSeq Acc Id: NM_001384125   ⟹   NP_001371054
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,152,331 - 122,362,752 (+)NCBI
T2T-CHM13v2.04125,456,397 - 125,666,898 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015312   ⟹   NP_056127
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,170,603 - 122,362,752 (+)NCBI
GRCh374123,073,488 - 123,283,914 (+)NCBI
Build 364123,311,208 - 123,503,357 (+)NCBI Archive
HuRef4118,818,167 - 119,010,362 (+)ENTREZGENE
CHM1_14123,068,234 - 123,260,401 (+)NCBI
T2T-CHM13v2.04125,474,669 - 125,666,898 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005263282   ⟹   XP_005263339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,152,331 - 122,362,752 (+)NCBI
GRCh374123,073,488 - 123,283,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005263287   ⟹   XP_005263344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,152,331 - 122,362,752 (+)NCBI
GRCh374123,073,488 - 123,283,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006714344   ⟹   XP_006714407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,152,331 - 122,362,752 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532320   ⟹   XP_011530622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,152,331 - 122,362,752 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532322   ⟹   XP_011530624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,152,331 - 122,362,752 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532323   ⟹   XP_011530625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,152,331 - 122,362,752 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532324   ⟹   XP_011530626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,152,331 - 122,362,752 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532325   ⟹   XP_011530627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,152,331 - 122,362,752 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532326   ⟹   XP_011530628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,152,331 - 122,362,752 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532330   ⟹   XP_011530632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,207,193 - 122,362,752 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008695   ⟹   XP_016864184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,152,331 - 122,362,752 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008697   ⟹   XP_016864186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,152,331 - 122,362,752 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008698   ⟹   XP_016864187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,224,843 - 122,362,752 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008699   ⟹   XP_016864188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384122,152,331 - 122,278,761 (+)NCBI
Sequence: