Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	987
Gene name	LPS responsive beige-like anchor protein
Gene symbol	LRBA
Synonyms (NCBI Gene)	BGLCDC4LCVID8LAB300LBAuc.147
Chromosome	4
Chromosome location	4q31.3
Summary	The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in le

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SNP ID	Visualize variation	Clinical significance	Consequence
rs17027133	T>C	Conflicting-interpretations-of-pathogenicity, benign	Genic upstream transcript variant, missense variant, coding sequence variant
rs62346982	T>G	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs79392371	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs114610541	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic upstream transcript variant
rs116355217	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, genic upstream transcript variant
rs138956153	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs140666848	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, genic upstream transcript variant, coding sequence variant
rs142598024	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs143625481	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs145709687	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs145812385	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs151286835	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199469662	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs199469663	A>C	Pathogenic	Coding sequence variant, missense variant
rs199469664	C>A,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, missense variant
rs200295901	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs201059532	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs727503779	CTCT>-,CT	Pathogenic	Frameshift variant, coding sequence variant
rs727503780	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, genic upstream transcript variant
rs745608560	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs762031957	G>C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs779575307	G>A,C	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, missense variant
rs1004337827	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1171694504	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1181595292	A>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1192554889	G>C	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1206185362	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1264504989	->CATG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1484948342	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, genic upstream transcript variant
rs1553956151	CAAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1553965868	AAGGAGAGGAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1553996145	A>C,G	Likely-pathogenic	Splice donor variant
rs1553998602	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554020278	->TGTCTTCGCTAGC	Pathogenic	Stop gained, coding sequence variant, inframe indel, genic upstream transcript variant
rs1560914625	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1560938296	TC>CA	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1561254290	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1578971328	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1578999313	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1579059727	A>C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1580875488	G>A	Pathogenic	Stop gained, coding sequence variant
rs1580974401	ATAGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581303476	C>T	Pathogenic	Stop gained, coding sequence variant
rs1581401865	A>-	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT040425	hsa-miR-615-3p	CLASH	23622248
MIRT039203	hsa-miR-769-5p	CLASH	23622248
MIRT038890	hsa-miR-93-3p	CLASH	23622248
MIRT036310	hsa-miR-1229-3p	CLASH	23622248
MIRT1117230	hsa-miR-1206	CLIP-seq
MIRT1117231	hsa-miR-1273d	CLIP-seq
MIRT1117232	hsa-miR-1322	CLIP-seq
MIRT1117233	hsa-miR-219-2-3p	CLIP-seq
MIRT1117234	hsa-miR-2355-5p	CLIP-seq
MIRT1117235	hsa-miR-2964a-3p	CLIP-seq
MIRT1117236	hsa-miR-33a	CLIP-seq
MIRT1117237	hsa-miR-33b	CLIP-seq
MIRT1117238	hsa-miR-3613-3p	CLIP-seq
MIRT1117239	hsa-miR-3647-3p	CLIP-seq
MIRT1117240	hsa-miR-3682-5p	CLIP-seq
MIRT1117241	hsa-miR-4286	CLIP-seq
MIRT1117242	hsa-miR-4652-3p	CLIP-seq
MIRT1117243	hsa-miR-4668-3p	CLIP-seq
MIRT1117244	hsa-miR-4680-3p	CLIP-seq
MIRT1117245	hsa-miR-4688	CLIP-seq
MIRT1117246	hsa-miR-4699-3p	CLIP-seq
MIRT1117247	hsa-miR-4793-5p	CLIP-seq
MIRT1117248	hsa-miR-486-3p	CLIP-seq
MIRT1117249	hsa-miR-767-3p	CLIP-seq
MIRT1117250	hsa-miR-1253	CLIP-seq
MIRT1117251	hsa-miR-1267	CLIP-seq
MIRT1117231	hsa-miR-1273d	CLIP-seq
MIRT1117252	hsa-miR-1273e	CLIP-seq
MIRT1117234	hsa-miR-2355-5p	CLIP-seq
MIRT1117253	hsa-miR-3065-3p	CLIP-seq
MIRT1117254	hsa-miR-3120-3p	CLIP-seq
MIRT1117255	hsa-miR-3121-3p	CLIP-seq
MIRT1117256	hsa-miR-3148	CLIP-seq
MIRT1117257	hsa-miR-3160-3p	CLIP-seq
MIRT1117258	hsa-miR-3185	CLIP-seq
MIRT1117259	hsa-miR-338-5p	CLIP-seq
MIRT1117239	hsa-miR-3647-3p	CLIP-seq
MIRT1117260	hsa-miR-3659	CLIP-seq
MIRT1117261	hsa-miR-3976	CLIP-seq
MIRT1117241	hsa-miR-4286	CLIP-seq
MIRT1117262	hsa-miR-4427	CLIP-seq
MIRT1117263	hsa-miR-4496	CLIP-seq
MIRT1117264	hsa-miR-4635	CLIP-seq
MIRT1117265	hsa-miR-4658	CLIP-seq
MIRT1117243	hsa-miR-4668-3p	CLIP-seq
MIRT1117266	hsa-miR-4684-3p	CLIP-seq
MIRT1117267	hsa-miR-4696	CLIP-seq
MIRT1117268	hsa-miR-4709-3p	CLIP-seq
MIRT1117269	hsa-miR-539	CLIP-seq
MIRT1117270	hsa-miR-574-5p	CLIP-seq
MIRT1117271	hsa-miR-628-5p	CLIP-seq
MIRT1117250	hsa-miR-1253	CLIP-seq
MIRT1117231	hsa-miR-1273d	CLIP-seq
MIRT1117256	hsa-miR-3148	CLIP-seq
MIRT1117257	hsa-miR-3160-3p	CLIP-seq
MIRT2033113	hsa-miR-323b-3p	CLIP-seq
MIRT2033114	hsa-miR-337-3p	CLIP-seq
MIRT1117260	hsa-miR-3659	CLIP-seq
MIRT2033115	hsa-miR-3685	CLIP-seq
MIRT2033116	hsa-miR-384	CLIP-seq
MIRT1117263	hsa-miR-4496	CLIP-seq
MIRT1117265	hsa-miR-4658	CLIP-seq
MIRT1117270	hsa-miR-574-5p	CLIP-seq
MIRT2263469	hsa-miR-1245b-5p	CLIP-seq
MIRT1117250	hsa-miR-1253	CLIP-seq
MIRT1117232	hsa-miR-1322	CLIP-seq
MIRT2263470	hsa-miR-198	CLIP-seq
MIRT2263471	hsa-miR-199a-3p	CLIP-seq
MIRT2263472	hsa-miR-199b-3p	CLIP-seq
MIRT2263473	hsa-miR-27a	CLIP-seq
MIRT2263474	hsa-miR-27b	CLIP-seq
MIRT1117253	hsa-miR-3065-3p	CLIP-seq
MIRT1117254	hsa-miR-3120-3p	CLIP-seq
MIRT2263475	hsa-miR-3123	CLIP-seq
MIRT2263476	hsa-miR-3129-5p	CLIP-seq
MIRT2263477	hsa-miR-3142	CLIP-seq
MIRT2263478	hsa-miR-3143	CLIP-seq
MIRT1117256	hsa-miR-3148	CLIP-seq
MIRT1117257	hsa-miR-3160-3p	CLIP-seq
MIRT2263479	hsa-miR-3174	CLIP-seq
MIRT2263480	hsa-miR-3529	CLIP-seq
MIRT1117260	hsa-miR-3659	CLIP-seq
MIRT2263481	hsa-miR-3671	CLIP-seq
MIRT1117240	hsa-miR-3682-5p	CLIP-seq
MIRT2263482	hsa-miR-3692	CLIP-seq
MIRT2263483	hsa-miR-371-5p	CLIP-seq
MIRT2263484	hsa-miR-371b-5p	CLIP-seq
MIRT2263485	hsa-miR-379	CLIP-seq
MIRT2263486	hsa-miR-4269	CLIP-seq
MIRT2263487	hsa-miR-4289	CLIP-seq
MIRT1117262	hsa-miR-4427	CLIP-seq
MIRT2263488	hsa-miR-4438	CLIP-seq
MIRT2263489	hsa-miR-4451	CLIP-seq
MIRT2263490	hsa-miR-4470	CLIP-seq
MIRT1117263	hsa-miR-4496	CLIP-seq
MIRT2263491	hsa-miR-4536	CLIP-seq
MIRT2263492	hsa-miR-4645-5p	CLIP-seq
MIRT2263493	hsa-miR-4650-3p	CLIP-seq
MIRT2263494	hsa-miR-4650-5p	CLIP-seq
MIRT1117265	hsa-miR-4658	CLIP-seq
MIRT2263495	hsa-miR-4673	CLIP-seq
MIRT2263496	hsa-miR-4742-5p	CLIP-seq
MIRT1117247	hsa-miR-4793-5p	CLIP-seq
MIRT2263497	hsa-miR-5095	CLIP-seq
MIRT2263498	hsa-miR-5096	CLIP-seq
MIRT2263499	hsa-miR-513a-5p	CLIP-seq
MIRT2263500	hsa-miR-513c	CLIP-seq
MIRT2263501	hsa-miR-514b-5p	CLIP-seq
MIRT2263502	hsa-miR-543	CLIP-seq
MIRT1117270	hsa-miR-574-5p	CLIP-seq
MIRT2263503	hsa-miR-576-3p	CLIP-seq
MIRT1117249	hsa-miR-767-3p	CLIP-seq
MIRT2263504	hsa-miR-921	CLIP-seq
MIRT1117250	hsa-miR-1253	CLIP-seq
MIRT1117256	hsa-miR-3148	CLIP-seq
MIRT1117257	hsa-miR-3160-3p	CLIP-seq
MIRT1117260	hsa-miR-3659	CLIP-seq
MIRT1117263	hsa-miR-4496	CLIP-seq
MIRT1117265	hsa-miR-4658	CLIP-seq
MIRT1117270	hsa-miR-574-5p	CLIP-seq
MIRT1117252	hsa-miR-1273e	CLIP-seq
MIRT1117264	hsa-miR-4635	CLIP-seq
MIRT1117252	hsa-miR-1273e	CLIP-seq
MIRT1117264	hsa-miR-4635	CLIP-seq

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Transcription factor	Regulation	Reference
E2F1	Activation	15064745

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000423	Process	Mitophagy	IMP	33773106
GO:0005515	Function	Protein binding	IPI	26206937, 31263572, 33961781
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0008104	Process	Intracellular protein localization	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0019901	Function	Protein kinase binding	IBA
GO:0034497	Process	Protein localization to phagophore assembly site	IMP	33773106

MIM	HGNC	e!Ensembl
606453	1742	ENSG00000198589

P50851

Protein name

Lipopolysaccharide-responsive and beige-like anchor protein (Beige-like protein) (CDC4-like protein)

Protein function

Involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules (By similarity). Involved in phagophore growth during mitophagy by regulating ATG9A traffickin

PDB

1T77

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13385	Laminin_G_3	211 → 377		Domain
PF15787	DUF4704	446 → 717	Domain of unknown function (DUF4704)	Family
PF06469	DUF1088	1880 → 2058	Domain of Unknown Function (DUF1088)	Family
PF14844	PH_BEACH	2084 → 2181	PH domain associated with Beige/BEACH	Domain
PF02138	Beach	2213 → 2489	Beige/BEACH domain	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12160729}.

Sequence

MASEDNRVPSPPPTGDDGGGGGREETPTEGGALSLKPGLPIRGIRMKFAVLTGLVEVGEV
SNRDIVETVFNLLVGGQFDLEMNFIIQEGESINCMVDLLEKCDITCQAEVWSMFTAILKK
SIRNLQVCTEVGLVEKVLGKIEKVDNMIADLLVDMLGVLASYNLTVRELKLFFSKLQGDK
GRWPPHAGKLLSVLKHMPQKYGPDAFFNFPGKSAAAIALPPIAKWPYQNGFTFHTWLRMD
PVNNINVDKDKPYLYCFRTSKGLGYSAHFVGGCLIVTSIKSKGKGFQHCVKFDFKPQKWY
MVTIVHIYNRWKNSELRCYVNGELASYGEITWFVNTSDTFDKCFLGSSETADANRVFCGQ
MTAVYLFSEALNAAQIFAIYQLGLGYKGTFKFKAESDLFLAEHHKLLLYDGKLSSAIAFT
YNPRATDAQLCLESSPKDNPSIFVHSPHALMLQDVKAVLTHSIQSAMHSIGGVQVLFPLF
AQLDYRQYLSDEIDLTICSTLLAFIMELLKNSIAMQEQMLACKGFLVIGYSLEKSSKSHV
SRAVLELCLAFSKYLSNLQNGMPLLKQLCDHVLLNPAIWIHTPAKVQLMLYTYLSTEFIG
TVNIYNTIRRVGTVLLIMHTLKYYYWAVNPQDRSGITPKGLDGPRPNQKEMLSLRAFLLM
FIKQLVMKDSGVKEDELQAILNYLLTMHEDDNLMDVLQLLVALMSEHPNSMIPAFDQRNG
LRVIYKLLASKSEGIRVQALKAMGYFLKHLAPKRKAEVMLGHGLFSLLAERLMLQTNLIT
MTTYNVLFEILIEQIGTQVIHKQHPDPDSSVKIQNPQILKVIATLLRNSPQCPESMEVRR
AFLSDMIKLFNNSRENRRSLLQCSVWQEWMLSLCYFNPKNSDEQKITEMVYAIFRILLYH
AVKYEWGGWRVWVDTLSITHSKVTFEIHKENLANIFREQQGKVDEEIGLCSSTSVQAASG
IRRDINVSVGSQQPDTKDSPVCPHFTTNGNENSSIEKTSSLESASNIELQTTNTSYEEMK
AEQENQELPDEGTLEETLTNETRNADDLEVSSDIIEAVAISSNSFITTGKDSMTVSEVTA
SISSPSEEDASEMPEFLDKSIVEEEEDDDYVELKVEGSPTEEANLPTELQDNSLSPAASE
AGEKLDMFGNDDKLIFQEGKPVTEKQTDTETQDSKDSGIQTMTASGSSAMSPETTVSQIA
VESDLGQMLEEGKKATNLTRETKLINDCHGSVSEASSEQKIAKLDVSNVATDTERLELKA
SPNVEAPQPHRHVLEISRQHEQPGQGIAPDAVNGQRRDSRSTVFRIPEFNWSQMHQRLLT
DLLFSIETDIQMWRSHSTKTVMDFVNSSDNVIFVHNTIHLISQVMDNMVMACGGILPLLS
AATSATHELENIEPTQGLSIEASVTFLQRLISLVDVLIFASSLGFTEIEAEKSMSSGGIL
RQCLRLVCAVAVRNCLECQQHSQLKTRGDKALKPMHSLIPLGKSAAKSPVDIVTGGISPV
RDLDRLLQDMDINRLRAVVFRDIEDSKQAQFLALAVVYFISVLMVSKYRDILEPQNERHS
QSCTETGSENENVSLSEITPAAFSTLTTASVEESESTSSARRRDSGIGEETATGLGSHVE
VTPHTAPPGVSAGPDAISEVLSTLSLEVNKSPETKNDRGNDLDTKATPSVSVSKNVNVKD
ILRSLVNIPADGVTVDPALLPPACLGALGDLSVEQPVQFRSFDRSVIVAAKKSAVSPSTF
NTSIPTNAVSVVSSVDSAQASDMGGESPGSRSSNAKLPSVPTVDSVSQDPVSNMSITERL
EHALEKAAPLLREIFVDFAPFLSRTLLGSHGQELLIEGTSLVCMKSSSSVVELVMLLCSQ
EWQNSIQKNAGLAFIELVNEGRLLSQTMKDHLVRVANEAEFILSRQRAEDIHRHAEFESL
CAQYSADKREDEKMCDHLIRAAKYRDHVTATQLIQKIINILTDKHGAWGNSAVSRPLEFW
RLDYWEDDLRRRRRFVRNPLGSTHPEATLKTAVEHVCIFKLRENSKATDEDILAKGKQSI
RSQALGNQNSENEILLEGDDDTLSSVDEKDLENLAGPVSLSTPAQLVAPSVVVKGTLSVT
SSELYFEVDEEDPNFKKIDPKILAYTEGLHGKWLFTEIRSIFSRRYLLQNTALEIFMANR
VAVMFNFPDPATVKKVVNYLPRVGVGTSFGLPQTRRISLASPRQLFKASNMTQRWQHREI
SNFEYLMFLNTIAGRSYNDLNQYPVFPWVITNYESEELDLTLPTNFRDLSKPIGALNPKR
AAFFAERYESWEDDQVPKFHYGTHYSTASFVLAWLLRIEPFTTYFLNLQGGKFDHADRTF
SSISRAWRNSQRDTSDIKELIPEFYYLPEMFVNFNNYNLGVMDDGTVVSDVELPPWAKTS
EEFVHINRLALESEFVSCQLHQWIDLIFGYKQQGPEAVRALNVFYYLTYEGAVNLNSITD
PVLREAVEAQIRSFGQTPSQLLIEPHPPRGSAMQVSPLMFTDKAQQDVIMVLKFPSNSPV
THVAANTQPGLATPAVITVTANRLFAVNKWHNLPAHQGAVQDQPYQLPVEIDPLIASNTG
MHRRQITDLLDQSIQVHSQCFVITSDNRYILVCGFWDKSFRVYSTDTGRLIQVVFGHWDV
VTCLARSESYIGGNCYILSGSRDATLLLWYWNGKCSGIGDNPGSETAAPRAILTGHDYEV
TCAAVCAELGLVLSGSQEGPCLIHSMNGDLLRTLEGPENCLKPKLIQASREGHCVIFYEN
GLFCTFSVNGKLQATMETDDNIRAIQLSRDGQYLLTGGDRGVVVVRQVSDLKQLFAYPGC
DAGIRAMALSYDQRCIISGMASGSIVLFYNDFNRWHHEYQTRY

Sequence length

2863

Interactions

View interactions

1927

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined immunodeficiency due to LRBA deficiency	Likely pathogenic; Pathogenic	rs2126905499, rs2127009232, rs2151995373, rs760342862, rs2126810458, rs1319094744, rs1268711491, rs2126905382, rs2152104087, rs532289025, rs2149489382, rs1297757024, rs34237929, rs2149489346, rs2127154743 View all (91 more)	RCV001594439 RCV001377647 RCV001385408 RCV001383085 RCV001381549 RCV001385766 RCV001873769 RCV001533553 RCV001782397 RCV003647015 RCV001809167 RCV001991632 RCV002037713 RCV001920949 RCV001970127 RCV001882063 RCV001953782 RCV001896457 RCV001943427 RCV001921351 RCV001921356 RCV002002462 RCV001871214 RCV001931945 RCV001958723 RCV002243596 RCV002251017 RCV002251118 RCV002283938 RCV000150103 RCV000150104 RCV003074620 RCV003084513 RCV002619319 RCV002636547 RCV002651853 RCV002731093 RCV002746292 RCV002843685 RCV002856399 RCV002862060 RCV002862061 RCV002851192 RCV002863693 RCV002963068 RCV003019959 RCV003024790 RCV003034927 RCV003036205 RCV003140544 RCV003142361 RCV003148570 RCV003152930 RCV003314374 RCV003314449 RCV003335929 RCV003337976 RCV003445291 RCV003448750 RCV003534025 RCV003531435 RCV003531737 RCV003531755 RCV003532384 RCV003532519 RCV003646419 RCV003646484 RCV003646703 RCV003646803 RCV003854040 RCV003852221 RCV004547362 RCV004577251 RCV005091139 RCV005010453 RCV000029134 RCV000029135 RCV000029136 RCV000650400 RCV000696141 RCV001244180 RCV000692077 RCV001594404 RCV000768379 RCV000803776 RCV000821001 RCV000818893 RCV000987478 RCV000991429 RCV000991430 RCV001041360 RCV001860584 RCV005012454 RCV001027974 RCV001071942 RCV001070004 RCV001065753 RCV001035308 RCV001207875 RCV001203869 RCV001229147 RCV001239515 RCV005012693 RCV002570417 RCV001267768 RCV001283807
Inherited Immunodeficiency Diseases	Likely pathogenic; Pathogenic	rs1171694504, rs1578971328	RCV001027588 RCV001027587
LRBA-related disorder	Likely pathogenic	rs532289025, rs1425262198	RCV004750927 RCV003394377
Severe combined immunodeficiency due to CORO1A deficiency	Pathogenic; Likely pathogenic	rs764745197, rs1750245794	RCV001250247 RCV001250246

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	rs58328072, rs58873298, rs138220755	RCV005914842 RCV005896928 RCV005903067
Cervical cancer	Conflicting classifications of pathogenicity	rs183652080	RCV005910841
Cholangiocarcinoma	Benign; Conflicting classifications of pathogenicity	rs55998463, rs183652080	RCV005923466 RCV005910843
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs58328072	RCV005914849
Colon adenocarcinoma	Benign	rs145452262	RCV005869609
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2546545086	RCV004557779
Familial cancer of breast	Benign; Uncertain significance	rs1993109, rs376347820	RCV005917982 RCV005908975
Familial pancreatic carcinoma	Benign	rs58328072	RCV005914843
Gastric cancer	Benign; Uncertain significance	rs58328072, rs145552628, rs58873298	RCV005914845 RCV005924159 RCV005896931
Hepatocellular carcinoma	Benign	rs55998463, rs58873298	RCV005923465 RCV005896929
Hirschsprung disease, susceptibility to, 1	Conflicting classifications of pathogenicity	rs140666848	RCV000508598
Long QT syndrome	Likely benign	rs754621566	RCV000190150
Lymphoma	Benign	rs58328072	RCV005914846
Malignant tumor of esophagus	Likely benign; Benign	rs762339802, rs562182391, rs145452262, rs58873298	RCV005924261 RCV005921417 RCV005869610 RCV005896930
Meniere disease	Uncertain significance	rs374519451, rs1248765980, rs1386994001, rs373476644	RCV004570742 RCV004573518 RCV004573519 RCV004569670
Nonpapillary renal cell carcinoma	Benign	rs145452262	RCV005869611
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs61741557, rs58873298, rs146423687, rs183652080, rs201545103	RCV005896927 RCV005896932 RCV005901648 RCV005910842 RCV005910940
Sarcoma	Benign	rs58328072	RCV005914844
Schizophrenia	Uncertain significance	rs2546066718	RCV002463540
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs1463270756, rs2126925164, rs375700554, rs372010196, rs745608560	RCV002253161 RCV002253162 RCV002252640 RCV002252242 RCV002252239
Spastic paraplegia, intellectual disability, nystagmus, and obesity	Uncertain significance	rs1750538092	RCV004813167
Thymoma	Benign	rs58328072	RCV005914848
Uterine carcinosarcoma	Benign	rs58328072	RCV005914847
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	rs55998463, rs750883073, rs58873298	RCV005923467 RCV005928350 RCV005896933

Show/Hide Text Mining Associations (64)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abruzzo Erickson syndrome	Associate	25468195
Agammaglobulinemia	Associate	22608502, 30386343, 32284663, 35413226, 36074705
Agricultural Workers' Diseases	Associate	28953250
Alopecia Neurologic Defects and Endocrinopathy Syndrome	Associate	36074705
Anemia Hemolytic	Associate	35413226
Anemia Hemolytic Autoimmune	Associate	35413226
Anthracosis	Associate	28953250
Arthritis	Associate	36078750
Autoimmune Diseases	Associate	22608502, 28473463, 36078750
Autoimmune Diseases of the Nervous System	Associate	36790564
Autoimmune enteropathy	Associate	25468195
Autoimmune Lymphoproliferative Syndrome	Associate	28473463
Bohring syndrome	Associate	35413226
Breast Neoplasms	Associate	23819905
Carcinoma Renal Cell	Associate	25468195
Common Variable Immunodeficiency	Associate	26122175, 27016798, 27888588, 29867916, 30363934, 32154999, 33912197, 36074705, 40703516
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	30363934
Cryptogenic Organizing Pneumonia	Associate	27888588
Death	Associate	32154999
Diabetes Mellitus	Associate	28473463, 29417186, 36078750, 36423945, 38408297
Diabetes Mellitus Congenital Autoimmune	Associate	38408297
Diabetes Mellitus Transient Neonatal 1	Associate	28473463, 33845048, 36423945
Diabetes Mellitus Type 1	Associate	33845048, 33912197, 36078750
Diabetic Retinopathy	Associate	39924156
Diarrhea	Associate	33013830, 36078750
Disease	Associate	27302973
Dykes Markes Harper syndrome	Associate	35413226
Ependymoma	Associate	33247464
Evans Syndrome	Associate	30940614
fetal inflammatory response syndrome	Associate	29740429, 32154999
fetal inflammatory response syndrome	Inhibit	32154999
Gastritis	Associate	33717114
Genetic Diseases Inborn	Associate	35655776, 38408297
Hematologic Diseases	Associate	31874111, 36074705
Hemolysis	Associate	35413226
Hypoglycemia	Associate	36078750
Immune Dysregulation Polyendocrinopathy Enteropathy X Linked Syndrome	Associate	25468195, 33864888
Immune System Diseases	Associate	22608502, 32592188, 35413226, 35482138, 36074705
Immunologic Deficiency Syndromes	Associate	22721650, 25468195, 27016798, 30386343, 31887391, 33013830
Inflammatory Bowel Diseases	Associate	22721650, 27888588, 32084423, 33013830, 33359885, 35413226
Jaundice	Associate	35413226
Jet Lag Syndrome	Associate	35660939
Lymphohistiocytosis Hemophagocytic	Associate	36074705
Lymphoma T Cell	Associate	25468195
Lymphoproliferative Disorders	Associate	36074705
Melanoma	Associate	28720148
Metabolic Diseases	Associate	25468195
Migraine without Aura	Associate	28473463
Neoplasms	Associate	28953250
Neutropenia	Associate	33912197
Panniculitis	Associate	31874111
Pneumoconiosis	Associate	28953250
Polyendocrinopathies Autoimmune	Associate	25468195
Primary Immunodeficiency Diseases	Associate	30940614, 33717114, 33912197, 36078750, 38644452
Primary Myelofibrosis	Associate	23733509
Pulmonary Fibrosis	Associate	28953250
Purpura Thrombocytopenic Idiopathic	Associate	32154999, 33912197
Renal Insufficiency	Associate	36078750
Skin Manifestations	Associate	35413226
Stomach Neoplasms	Associate	28720148
Van der Woude syndrome	Inhibit	27888588, 32284663, 36074705
Van der Woude syndrome	Associate	27888588, 35413226
X Linked Combined Immunodeficiency Diseases	Associate	22721650
X Linked Combined Immunodeficiency Diseases	Stimulate	28159733

LRBA (LPS responsive beige-like anchor protein)