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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	583
Gene name	Bardet-Biedl syndrome 2
Gene symbol	BBS2
Synonyms (NCBI Gene)	BBSRP74
Chromosome	16
Chromosome location	16q13
Summary	This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins

Show/Hide all (64)

SNP ID	Visualize variation	Clinical significance	Consequence
rs4784677	C>A,G,T	Benign, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs34191306	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs41280892	T>C	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs121908174	A>C	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908175	G>C	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121908176	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121908177	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121908178	G>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908179	T>G	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908180	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121908181	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137854887	T>C	Pathogenic	Splice acceptor variant
rs138043021	C>G,T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs141046144	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, intron variant, coding sequence variant
rs147030232	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Stop gained, missense variant, non coding transcript variant, intron variant, coding sequence variant
rs193922710	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs193922711	A>-	Likely-pathogenic, pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs201063733	G>C	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs201196733	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs376306240	G>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs567573386	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs587777824	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs587777825	C>G	Pathogenic	Splice acceptor variant
rs587777826	C>-	Pathogenic	Splice acceptor variant, non coding transcript variant, coding sequence variant
rs745951028	TTAAGGT>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs746171104	C>-	Likely-pathogenic	Splice donor variant
rs762047808	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs764164384	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs767373822	A>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, synonymous variant
rs770258677	G>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs773417074	AA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs773862084	C>A	Pathogenic, likely-pathogenic	Splice donor variant
rs777234811	C>A	Likely-pathogenic	Splice acceptor variant
rs777420525	->T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs778090540	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs778543585	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs779690256	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs786205498	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs797044632	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs797045155	G>C,T	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs869025206	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs878962682	T>C,G	Likely-pathogenic	Splice acceptor variant
rs886039797	A>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886043059	C>A	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs1047075022	C>T	Likely-pathogenic	Splice donor variant
rs1166717771	C>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1273181642	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1367927635	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1368647604	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555520142	C>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555520220	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555520256	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555521379	AT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555521489	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555521501	G>A	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555522000	C>A	Likely-pathogenic	Splice acceptor variant
rs1555522252	->GA	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555522893	A>C	Likely-pathogenic	Splice donor variant
rs1555523398	T>C	Pathogenic	Splice acceptor variant
rs1555523584	C>T	Likely-pathogenic	Splice donor variant
rs1555523964	CTCTGTAGAACAAATCCGAA>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555524593	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1567576202	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1597012997	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT715808	hsa-miR-7154-5p	HITS-CLIP	19536157
MIRT715807	hsa-miR-433-3p	HITS-CLIP	19536157
MIRT715808	hsa-miR-7154-5p	HITS-CLIP	19536157
MIRT715807	hsa-miR-433-3p	HITS-CLIP	19536157
MIRT816866	hsa-miR-1269	CLIP-seq
MIRT816867	hsa-miR-1269b	CLIP-seq
MIRT816868	hsa-miR-4522	CLIP-seq
MIRT816869	hsa-miR-4529-3p	CLIP-seq
MIRT816870	hsa-miR-4714-5p	CLIP-seq
MIRT816871	hsa-miR-548p	CLIP-seq
MIRT1941548	hsa-miR-101	CLIP-seq
MIRT1941549	hsa-miR-154	CLIP-seq
MIRT1941550	hsa-miR-4291	CLIP-seq
MIRT1941551	hsa-miR-4709-5p	CLIP-seq
MIRT1941552	hsa-miR-4775	CLIP-seq
MIRT1941553	hsa-miR-545	CLIP-seq
MIRT1941549	hsa-miR-154	CLIP-seq
MIRT2180319	hsa-miR-3168	CLIP-seq
MIRT2180320	hsa-miR-4703-3p	CLIP-seq
MIRT2180321	hsa-miR-4717-3p	CLIP-seq
MIRT1941552	hsa-miR-4775	CLIP-seq

Show/Hide all (72)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 16327777, 17574030, 18000879, 18762586, 20080638, 22139371, 22500027, 25416956, 25552655, 27173435, 28514442, 29039417, 32296183, 33144677, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005902	Component	Microvillus	IEA
GO:0005929	Component	Cilium	IEA
GO:0007288	Process	Sperm axoneme assembly	IEA
GO:0007288	Process	Sperm axoneme assembly	ISS
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	25541840
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008104	Process	Intracellular protein localization	ISS
GO:0010467	Process	Gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0014824	Process	Artery smooth muscle contraction	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0021756	Process	Striatum development	IEA
GO:0021756	Process	Striatum development	ISS
GO:0021766	Process	Hippocampus development	IEA
GO:0021766	Process	Hippocampus development	ISS
GO:0021987	Process	Cerebral cortex development	IEA
GO:0021987	Process	Cerebral cortex development	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0030534	Process	Adult behavior	ISS
GO:0031514	Component	Motile cilium	IBA
GO:0031514	Component	Motile cilium	IDA	18299575
GO:0031514	Component	Motile cilium	IEA
GO:0032402	Process	Melanosome transport	ISS
GO:0032420	Component	Stereocilium	IEA
GO:0033210	Process	Leptin-mediated signaling pathway	IEA
GO:0033365	Process	Protein localization to organelle	IEA
GO:0034451	Component	Centriolar satellite	IEA
GO:0034464	Component	BBSome	IBA
GO:0034464	Component	BBSome	IDA	17574030, 24550735
GO:0034464	Component	BBSome	IEA
GO:0034464	Component	BBSome	IMP	19150989
GO:0034464	Component	BBSome	IPI	19081074
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	18299575
GO:0038108	Process	Negative regulation of appetite by leptin-mediated signaling pathway	IEA
GO:0038108	Process	Negative regulation of appetite by leptin-mediated signaling pathway	ISS
GO:0040015	Process	Negative regulation of multicellular organism growth	IEA
GO:0040015	Process	Negative regulation of multicellular organism growth	ISS
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042311	Process	Vasodilation	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043001	Process	Golgi to plasma membrane protein transport	IMP	19150989
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IEA
GO:0044321	Process	Response to leptin	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0048854	Process	Brain morphogenesis	IEA
GO:0048854	Process	Brain morphogenesis	ISS
GO:0051216	Process	Cartilage development	IEA
GO:0060170	Component	Ciliary membrane	IDA	19081074
GO:0060170	Component	Ciliary membrane	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0060271	Process	Cilium assembly	NAS	19081074
GO:0060296	Process	Regulation of cilium beat frequency involved in ciliary motility	IEA
GO:0060296	Process	Regulation of cilium beat frequency involved in ciliary motility	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	22302990
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
606151	967	ENSG00000125124

Q9BXC9

Protein name

BBSome complex member BBS2 (Bardet-Biedl syndrome 2 protein)

Protein function

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This cilio

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14781	BBS2_N	20 → 126	Ciliary BBSome complex subunit 2, N-terminal	Family
PF14783	BBS2_Mid	165 → 272	Ciliary BBSome complex subunit 2, middle region	Family
PF14782	BBS2_C	276 → 715	Ciliary BBSome complex subunit 2, C-terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed.

Sequence

MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQTGKVFIHNPHTRNQHVSASRVFQS
PLESDVSLLNINQAVSCLTAGVLNPELGYDALLVGTQTNLLAYDVYNNSDLFYREVADGA
NAIVLGTLGDISSPLAIIGGNCALQGFNHEGSDLFWTVTGDNVNSLALCDFDGDGKKELL
VGSEDFDIRVFKEDEIVAEMTETEIVTSLCPMYGSRFGYALSNGTVGVYDKTSRYWRIKS
KNHAMSIHAFDLNSDGVNELITGWSNGKVDARSDRTGEVIFKDNFSSAIAGVVEGDYRMD
GHIQLICCSVDGEIRGYLPGTAEMRGNLMDTSAEQDLIRELSQKKQNLLLELRNYEENAK
AELASPLNEADGHRGIIPANTRLHTTLSVSLGNETQTAHTELRISTSNDTIIRAVLIFAE
GIFTGESHVVHPSIHNLSSSICIPIVPPKDVPVDLHLKAFVGYRSSTQFHVFESTRQLPR
FSMYALTSLDPASEPISYVNFTIAERAQRVVVWLGQNFLLPEDTHIQNAPFQVCFTSLRN
GGHLHIKIKLSGEITINTDDIDLAGDIIQSMASFFAIEDLQVEADFPVYFEELRKVLVKV
DEYHSVHQKLSADMADHSNLIRSLLVGAEDARLMRDMKTMKSRYMELYDLNRDLLNGYKI
RCNNHTELLGNLKAVNQAIQRAGRLRVGKPKNQVITACRDAIRSNNINTLFKIMRVGTAS
S

Sequence length

721

Interactions

View interactions

	Reactome
			BBSome-mediated cargo-targeting to cilium

1872

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive retinitis pigmentosa	Likely pathogenic; Pathogenic	rs121908178	RCV001257834
Bardet-Biedl syndrome	Likely pathogenic; Pathogenic	rs1225299095, rs771554923, rs1964531402, rs2144095211, rs750146549, rs2144143132, rs2144145120, rs2144150359, rs2144163316, rs1170844318, rs181736797, rs2144193544, rs2144214319, rs2144138948, rs1964155109 View all (118 more)	RCV001378131 RCV001377136 RCV001377369 RCV001386722 RCV001390543 RCV001381231 RCV001389597 RCV001381060 RCV001382032 RCV001383660 RCV001381029 RCV001384644 RCV001386237 RCV003523114 RCV001885368 RCV002033989 RCV001999816 RCV002024989 RCV002036128 RCV001970957 RCV001947407 RCV001973868 RCV001947201 RCV002007210 RCV002000329 RCV001946899 RCV001946964 RCV001911429 RCV001972726 RCV001953591 RCV001881251 RCV001002877 RCV000589350 RCV000587533 RCV000269226 RCV001226053 RCV000587645 RCV000589221 RCV001390312 RCV001056084 RCV002658309 RCV002725966 RCV002805536 RCV001248493 RCV002811595 RCV001049931 RCV002823922 RCV002862992 RCV002876276 RCV002863859 RCV002889966 RCV002908980 RCV002953706 RCV003018640 RCV003043683 RCV003053814 RCV003222529 RCV000256466 RCV000531316 RCV003523199 RCV003523200 RCV003779143 RCV003524360 RCV003524164 RCV003522246 RCV003522266 RCV003523563 RCV003523701 RCV003525325 RCV003524732 RCV003524758 RCV003522714 RCV003524823 RCV003522905 RCV003522912 RCV003634702 RCV003634791 RCV003634878 RCV003634843 RCV003635098 RCV003634988 RCV003635378 RCV003635268 RCV003635390 RCV003633018 RCV003633033 RCV003837914 RCV003857007 RCV003872695 RCV001069542 RCV001852022 RCV000029406 RCV000029407 RCV000590291 RCV003633517 RCV001855595 RCV001069811 RCV001861814 RCV002530712 RCV000796443 RCV001224369 RCV003633532 RCV003523010 RCV000806329 RCV000794157 RCV002532103 RCV000694960 RCV000802962 RCV001049752 RCV000808886 RCV003523007 RCV000815857 RCV002532151 RCV001377155 RCV003523005 RCV001216723 RCV002532158 RCV003523006 RCV000735928 RCV005357966 RCV000782277 RCV000780957 RCV000803214 RCV001039563 RCV001038178 RCV001059813 RCV001192942 RCV001216646 RCV001214197 RCV001205313 RCV001208815 RCV001213840 RCV001212618 RCV001220353 RCV001215345 RCV001244987 RCV001247505 RCV001231013 RCV001255492 RCV002541615
Bardet-Biedl syndrome 1	Likely pathogenic	rs766098919	RCV003229562
Bardet-biedl syndrome 1/2, digenic	Pathogenic; Likely pathogenic	rs121908179, rs587777826	RCV000004839 RCV000004842
Bardet-Biedl syndrome 2	Likely pathogenic; Pathogenic	rs1225299095, rs750146549, rs2144143132, rs2144163316, rs1170844318, rs181736797, rs2144132609, rs2144138948, rs1964155109, rs2144193013, rs2144193104, rs2144134987, rs2543707684, rs2543704303, rs2543709618 View all (130 more)	RCV005014514 RCV002499821 RCV005606819 RCV001831382 RCV002307740 RCV003462971 RCV001580639 RCV001823536 RCV001823858 RCV003225196 RCV003464199 RCV002244246 RCV002306463 RCV002310016 RCV002310029 RCV002308317 RCV002309076 RCV002309194 RCV002309353 RCV002309391 RCV002306827 RCV002306836 RCV002306937 RCV002307011 RCV002307270 RCV002307344 RCV002310144 RCV002310187 RCV002310352 RCV002310441 RCV002310536 RCV004567377 RCV000004830 RCV000004831 RCV000412476 RCV000004833 RCV000004834 RCV000675099 RCV000665304 RCV000004840 RCV000004841 RCV002504748 RCV000668482 RCV000004846 RCV005608747 RCV005019395 RCV000190568 RCV000675071 RCV003464603 RCV003464642 RCV000207681 RCV005019559 RCV000335732 RCV003389569 RCV003465043 RCV003465046 RCV003465047 RCV003465048 RCV003465049 RCV003465050 RCV003465052 RCV003465053 RCV003465054 RCV003465055 RCV003465056 RCV003465057 RCV003465058 RCV003465059 RCV003465060 RCV003465061 RCV003465062 RCV003465063 RCV003465064 RCV003465065 RCV003465066 RCV003465067 RCV005014819 RCV004573374 RCV003991772 RCV004017214 RCV004576176 RCV004574011 RCV004574012 RCV004574013 RCV004574014 RCV004574015 RCV004574016 RCV004574017 RCV004574018 RCV000411465 RCV000023507 RCV000672755 RCV000190358 RCV000667111 RCV000673371 RCV000668190 RCV000672782 RCV000667457 RCV000665648 RCV000667813 RCV000667044 RCV000670184 RCV000670225 RCV000668757 RCV000668777 RCV000673151 RCV000670759 RCV000669469 RCV000671300 RCV000674824 RCV000665245 RCV000665957 RCV000672830 RCV000667444 RCV000668445 RCV000669549 RCV000673635 RCV000673424 RCV000673306 RCV000667149 RCV000665792 RCV000674711 RCV000674159 RCV000667351 RCV003460994 RCV003460999 RCV002501018 RCV003461063 RCV001825586 RCV000989605 RCV003461447 RCV004570110 RCV002497438 RCV001175188 RCV003462668 RCV002504256 RCV003462687 RCV003462697 RCV005021511 RCV003462713 RCV003462822 RCV003462837 RCV001264006 RCV001264007 RCV001264008 RCV001264009 RCV001264334 RCV001264335 RCV001264336 RCV001264337 RCV001264338 RCV001264339
Bardet-biedl syndrome 2/4, digenic	Likely pathogenic; Pathogenic	rs121908178	RCV000004835
BARDET-BIEDL SYNDROME 2/6, DIGENIC	Likely pathogenic; Pathogenic	rs121908175, rs121908180	RCV000004832 RCV000004845
BBS2-related ciliopathy	Likely pathogenic; Pathogenic	rs1225299095, rs121908174, rs1555523398, rs1555520142, rs1597016660	RCV005634125 RCV005632165 RCV005632513 RCV005632614 RCV005633713
BBS2-related disorder	Likely pathogenic; Pathogenic	rs2144143132, rs1964413705, rs121908175, rs121908177, rs121908179, rs138043021, rs147030232, rs137854887, rs193922711, rs567573386, rs1555520256, rs1367927635, rs762047808, rs764164384, rs779690256 View all (3 more)	RCV004531192 RCV004733457 RCV004732529 RCV004528072 RCV004532290 RCV000380902 RCV004530497 RCV004532399 RCV004532405 RCV004530646 RCV004732996 RCV005223106 RCV004732987 RCV004732990 RCV004544929 RCV004732999 RCV004538446 RCV004733213
Retinal disorder	Likely pathogenic; Pathogenic	rs121908175	RCV006253450
Retinal dystrophy	Likely pathogenic; Pathogenic	rs121908175, rs121908177, rs121908178, rs138043021, rs121908180, rs376306240, rs2543707803, rs2543720583, rs147030232, rs567573386, rs1555521379, rs1273181642, rs1367927635, rs544773389, rs773862084 View all (5 more)	RCV001074960 RCV001074104 RCV003887853 RCV001073916 RCV000787791 RCV001074319 RCV003889729 RCV003889733 RCV003889878 RCV004817790 RCV001074318 RCV004817870 RCV004817881 RCV003889960 RCV001075332 RCV001074105 RCV003889949 RCV003889955 RCV001075001 RCV004817911
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs121908175, rs121908179, rs138043021, rs770258677, rs376306240, rs777420525	RCV000787792 RCV001002876 RCV001002874 RCV000787790 RCV001002875 RCV000787789
Retinitis pigmentosa 74	Likely pathogenic; Pathogenic	rs1225299095, rs750146549, rs2144193104, rs121908174, rs121908175, rs121908176, rs121908177, rs121908178, rs121908179, rs138043021, rs587777826, rs121908180, rs776681366, rs770258677, rs376306240 View all (32 more)	RCV005014514 RCV002499821 RCV005016725 RCV005411280 RCV000762970 RCV002490314 RCV000762967 RCV005016240 RCV000190985 RCV000190986 RCV002504748 RCV005016241 RCV005019395 RCV005016549 RCV000190988 RCV005016557 RCV005019559 RCV002502120 RCV005021985 RCV005021986 RCV005021987 RCV005014819 RCV005015113 RCV005015187 RCV005015190 RCV000762966 RCV004798748 RCV001376258 RCV002477490 RCV002507165 RCV005019129 RCV005019139 RCV000762968 RCV002507153 RCV005019107 RCV002499159 RCV005019126 RCV002507167 RCV005019156 RCV005019163 RCV005021107 RCV005021122 RCV002501018 RCV002497438 RCV002504256 RCV005021511 RCV005014300 RCV005014316
Sarcoma	Pathogenic	rs1964413705	RCV005925692

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Uncertain significance; Conflicting classifications of pathogenicity	rs528685215, rs376380339, rs769041685	RCV005926468 RCV005913526 RCV005909191
Familial cancer of breast	Uncertain significance	rs749718244	RCV005928488
Gastric cancer	Benign	rs150384293	RCV005894498
Hepatocellular carcinoma	Benign	rs150384293	RCV005894496
Malignant lymphoma, large B-cell, diffuse	Benign	rs8062526	RCV005920437
Malignant tumor of esophagus	Benign	rs150384293	RCV005894497
Ovarian serous cystadenocarcinoma	Benign	rs150384293	RCV005894499
See cases	Uncertain significance	rs2144192969	RCV002253056
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs775577429	RCV005923888
Uterine carcinosarcoma	Benign	rs8062526	RCV005920438

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amelogenesis imperfecta local hypoplastic form	Associate	36672825
Anodontia	Associate	36672825
Bardet Biedl Syndrome	Associate	10577922, 11179009, 12016587, 12567324, 12677556, 15666242, 24608809, 26078953, 26325687, 28143435, 31530639, 31951329, 33688495, 34364070, 36672825, 37031301 View all (1 more)
Capillary Malformation Arteriovenous Malformation	Associate	36672825
Carcinoma Neuroendocrine	Associate	31852810
Ciliopathies	Associate	28800606, 34365092
Coxa Valga	Associate	36672825
Developmental Disabilities	Associate	36672825
Ellis Van Creveld Syndrome	Associate	36672825
Hirschsprung Disease	Associate	19666486
Hydronephrosis	Associate	36672825
Hypogonadism	Associate	39175229
Intellectual Disability	Associate	39175229
Learning Disabilities	Associate	31951329
Multicystic Dysplastic Kidney	Associate	37208928
Multicystic renal dysplasia bilateral	Associate	36672825
Myopia	Associate	36672825
Neointima	Associate	36672825
Nystagmus Pathologic	Associate	39175229
Obesity	Associate	36672825, 37329217, 39175229
Polydactyly	Associate	36672825
Psychotic Disorders	Associate	18762586
Pyometra	Associate	36672825
Retinal Diseases	Associate	31877759
Retinal Dystrophies	Associate	25133751
Retinitis Pigmentosa	Associate	25999675, 36672825, 39175229
Taurodontism	Associate	36672825
Vaginitis	Associate	36672825
Vision Disorders	Associate	37031301
Vision Low	Associate	39175229

BBS2 (Bardet-Biedl syndrome 2)