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	1258
Gene name	Cyclic nucleotide gated channel subunit beta 1
Gene symbol	CNGB1
Synonyms (NCBI Gene)	CNCG2CNCG3LCNCG4CNG4CNGB1BGAR1GARPGARP2RCNC2RCNCbRCNCbetaRP45
Chromosome	16
Chromosome location	16q21
Summary	In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta,

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SNP ID	Visualize variation	Clinical significance	Consequence
rs7190978	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, missense variant, genic downstream transcript variant, coding sequence variant
rs121918532	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs137853902	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs189234741	C>G,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, splice acceptor variant
rs200963831	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs201162411	T>A	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs201553871	G>C	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs372504780	G>A	Uncertain-significance, pathogenic	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs527236060	C>G,T	Likely-pathogenic	Intron variant, genic upstream transcript variant
rs527236061	->T	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs747258045	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs749199721	C>A,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, intron variant
rs750620302	G>A,T	Likely-pathogenic	Stop gained, missense variant, genic upstream transcript variant, coding sequence variant
rs753353134	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs754786301	G>A,C	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant
rs756806434	->CACC	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs760373259	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs760430056	C>-,CC	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs770011113	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs775887058	->A	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs778884136	CTCA>-	Likely-pathogenic	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, splice donor variant
rs797044693	->G	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs878853394	G>A	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs888090139	C>G,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1028371920	G>A,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1064794342	TCGT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1064794573	G>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1231250334	A>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1286857064	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1352458826	G>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1365926616	ACCACGTTGGCCGTGCGCC>-,ACCACGTTGGCCGTGCGCCACCACGTTGGCCGTGCGCC	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1420628245	C>T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1555488069	C>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555488573	G>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555493707	A>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1567360969	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1596974169	C>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596976316	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1596996962	C>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, 5 prime UTR variant
rs1596997875	T>A,G	Pathogenic	Genic downstream transcript variant, splice acceptor variant

104

Show/Hide all (104)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017103	hsa-miR-335-5p	Microarray	18185580
MIRT045902	hsa-miR-125b-5p	CLASH	23622248
MIRT525339	hsa-miR-371b-5p	PAR-CLIP	22012620
MIRT525338	hsa-miR-373-5p	PAR-CLIP	22012620
MIRT525337	hsa-miR-616-5p	PAR-CLIP	22012620
MIRT525336	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT525335	hsa-miR-372-5p	PAR-CLIP	22012620
MIRT525334	hsa-miR-2116-3p	PAR-CLIP	22012620
MIRT525333	hsa-miR-3663-5p	PAR-CLIP	22012620
MIRT525332	hsa-miR-4680-5p	PAR-CLIP	22012620
MIRT525331	hsa-miR-6749-3p	PAR-CLIP	22012620
MIRT525330	hsa-miR-7158-3p	PAR-CLIP	22012620
MIRT525329	hsa-miR-203b-3p	PAR-CLIP	22012620
MIRT525328	hsa-miR-6843-3p	PAR-CLIP	22012620
MIRT525327	hsa-miR-6848-3p	PAR-CLIP	22012620
MIRT525339	hsa-miR-371b-5p	PAR-CLIP	22012620
MIRT525338	hsa-miR-373-5p	PAR-CLIP	22012620
MIRT525337	hsa-miR-616-5p	PAR-CLIP	22012620
MIRT525336	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT525335	hsa-miR-372-5p	PAR-CLIP	22012620
MIRT525334	hsa-miR-2116-3p	PAR-CLIP	22012620
MIRT525333	hsa-miR-3663-5p	PAR-CLIP	22012620
MIRT525332	hsa-miR-4680-5p	PAR-CLIP	22012620
MIRT525331	hsa-miR-6749-3p	PAR-CLIP	22012620
MIRT525330	hsa-miR-7158-3p	PAR-CLIP	22012620
MIRT525329	hsa-miR-203b-3p	PAR-CLIP	22012620
MIRT525328	hsa-miR-6843-3p	PAR-CLIP	22012620
MIRT525327	hsa-miR-6848-3p	PAR-CLIP	22012620
MIRT899547	hsa-miR-1909	CLIP-seq
MIRT899548	hsa-miR-34c-3p	CLIP-seq
MIRT899549	hsa-miR-3591-5p	CLIP-seq
MIRT899550	hsa-miR-3646	CLIP-seq
MIRT899551	hsa-miR-3678-3p	CLIP-seq
MIRT899552	hsa-miR-3681	CLIP-seq
MIRT899553	hsa-miR-3944-5p	CLIP-seq
MIRT899554	hsa-miR-3974	CLIP-seq
MIRT899555	hsa-miR-409-3p	CLIP-seq
MIRT899556	hsa-miR-4272	CLIP-seq
MIRT899557	hsa-miR-4460	CLIP-seq
MIRT899558	hsa-miR-4705	CLIP-seq
MIRT899559	hsa-miR-4727-3p	CLIP-seq
MIRT899560	hsa-miR-576-3p	CLIP-seq
MIRT1966833	hsa-miR-106a	CLIP-seq
MIRT1966834	hsa-miR-106b	CLIP-seq
MIRT1966835	hsa-miR-150	CLIP-seq
MIRT1966836	hsa-miR-17	CLIP-seq
MIRT1966837	hsa-miR-1976	CLIP-seq
MIRT1966838	hsa-miR-20a	CLIP-seq
MIRT1966839	hsa-miR-20b	CLIP-seq
MIRT1966840	hsa-miR-302a	CLIP-seq
MIRT1966841	hsa-miR-302b	CLIP-seq
MIRT1966842	hsa-miR-302c	CLIP-seq
MIRT1966843	hsa-miR-302d	CLIP-seq
MIRT1966844	hsa-miR-302e	CLIP-seq
MIRT1966845	hsa-miR-372	CLIP-seq
MIRT1966846	hsa-miR-373	CLIP-seq
MIRT1966847	hsa-miR-4283	CLIP-seq
MIRT1966848	hsa-miR-4437	CLIP-seq
MIRT1966849	hsa-miR-4438	CLIP-seq
MIRT1966850	hsa-miR-4508	CLIP-seq
MIRT1966851	hsa-miR-4722-3p	CLIP-seq
MIRT1966852	hsa-miR-4731-5p	CLIP-seq
MIRT1966853	hsa-miR-5095	CLIP-seq
MIRT1966854	hsa-miR-512-3p	CLIP-seq
MIRT1966855	hsa-miR-519d	CLIP-seq
MIRT1966856	hsa-miR-520a-3p	CLIP-seq
MIRT1966857	hsa-miR-520b	CLIP-seq
MIRT1966858	hsa-miR-520c-3p	CLIP-seq
MIRT1966859	hsa-miR-520d-3p	CLIP-seq
MIRT1966860	hsa-miR-520e	CLIP-seq
MIRT1966861	hsa-miR-520g	CLIP-seq
MIRT1966862	hsa-miR-520h	CLIP-seq
MIRT1966863	hsa-miR-93	CLIP-seq
MIRT1966833	hsa-miR-106a	CLIP-seq
MIRT1966834	hsa-miR-106b	CLIP-seq
MIRT1966835	hsa-miR-150	CLIP-seq
MIRT1966836	hsa-miR-17	CLIP-seq
MIRT1966837	hsa-miR-1976	CLIP-seq
MIRT1966838	hsa-miR-20a	CLIP-seq
MIRT1966839	hsa-miR-20b	CLIP-seq
MIRT1966840	hsa-miR-302a	CLIP-seq
MIRT1966841	hsa-miR-302b	CLIP-seq
MIRT1966842	hsa-miR-302c	CLIP-seq
MIRT1966843	hsa-miR-302d	CLIP-seq
MIRT1966844	hsa-miR-302e	CLIP-seq
MIRT1966845	hsa-miR-372	CLIP-seq
MIRT1966846	hsa-miR-373	CLIP-seq
MIRT1966848	hsa-miR-4437	CLIP-seq
MIRT1966849	hsa-miR-4438	CLIP-seq
MIRT2202603	hsa-miR-4713-5p	CLIP-seq
MIRT1966851	hsa-miR-4722-3p	CLIP-seq
MIRT1966852	hsa-miR-4731-5p	CLIP-seq
MIRT1966853	hsa-miR-5095	CLIP-seq
MIRT1966854	hsa-miR-512-3p	CLIP-seq
MIRT1966855	hsa-miR-519d	CLIP-seq
MIRT1966856	hsa-miR-520a-3p	CLIP-seq
MIRT1966857	hsa-miR-520b	CLIP-seq
MIRT1966858	hsa-miR-520c-3p	CLIP-seq
MIRT1966859	hsa-miR-520d-3p	CLIP-seq
MIRT1966860	hsa-miR-520e	CLIP-seq
MIRT1966861	hsa-miR-520g	CLIP-seq
MIRT1966862	hsa-miR-520h	CLIP-seq
MIRT2202604	hsa-miR-532-3p	CLIP-seq
MIRT1966863	hsa-miR-93	CLIP-seq

Show/Hide all (73)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001750	Component	Photoreceptor outer segment	IBA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001895	Process	Retina homeostasis	IBA
GO:0001895	Process	Retina homeostasis	IMP	15557452
GO:0005221	Function	Intracellularly cyclic nucleotide-activated monoatomic cation channel activity	IEA
GO:0005222	Function	Intracellularly cAMP-activated cation channel activity	IBA
GO:0005222	Function	Intracellularly cAMP-activated cation channel activity	IDA	34699778
GO:0005222	Function	Intracellularly cAMP-activated cation channel activity	IEA
GO:0005223	Function	Intracellularly cGMP-activated cation channel activity	IBA
GO:0005223	Function	Intracellularly cGMP-activated cation channel activity	IDA	24164424, 34699778
GO:0005223	Function	Intracellularly cGMP-activated cation channel activity	IEA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	20890309
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IDA	24164424
GO:0006813	Process	Potassium ion transport	ISS
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	ISS
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	ISS
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	ISS
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	ISS
GO:0007601	Process	Visual perception	TAS	7682292
GO:0007602	Process	Phototransduction	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0007608	Process	Sensory perception of smell	ISS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	TAS	7682292
GO:0016020	Component	Membrane	IEA
GO:0017071	Component	Intracellular cyclic nucleotide activated cation channel complex	IBA
GO:0017071	Component	Intracellular cyclic nucleotide activated cation channel complex	IEA
GO:0021630	Process	Olfactory nerve maturation	IEA
GO:0021630	Process	Olfactory nerve maturation	ISS
GO:0030552	Function	CAMP binding	IDA	34699778
GO:0030552	Function	CAMP binding	IEA
GO:0030553	Function	CGMP binding	IBA
GO:0030553	Function	CGMP binding	IDA	24164424, 34699778
GO:0030553	Function	CGMP binding	IEA
GO:0030660	Component	Golgi-associated vesicle membrane	TAS
GO:0033365	Process	Protein localization to organelle	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043195	Component	Terminal bouton	IEA
GO:0043855	Function	Cyclic nucleotide-activated monoatomic ion channel activity	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IMP	15557452
GO:0050911	Process	Detection of chemical stimulus involved in sensory perception of smell	IEA
GO:0050911	Process	Detection of chemical stimulus involved in sensory perception of smell	ISS
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IEA
GO:0051899	Process	Membrane depolarization	IEA
GO:0051899	Process	Membrane depolarization	ISS
GO:0060170	Component	Ciliary membrane	IEA
GO:0060170	Component	Ciliary membrane	TAS
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098655	Process	Monoatomic cation transmembrane transport	IBA
GO:0098804	Component	Non-motile cilium membrane	IEA
GO:0098804	Component	Non-motile cilium membrane	ISS
GO:0120200	Component	Rod photoreceptor outer segment	IEA
GO:0120200	Component	Rod photoreceptor outer segment	ISS
GO:1902495	Component	Transmembrane transporter complex	IDA	24164424
GO:1990834	Process	Response to odorant	IEA
GO:1990834	Process	Response to odorant	ISS

MIM	HGNC	e!Ensembl
600724	2151	ENSG00000070729

Q14028

Protein name

Cyclic nucleotide-gated channel beta-1 (CNG channel beta-1) (Cyclic nucleotide-gated cation channel 4) (CNG channel 4) (CNG-4) (CNG4) (Cyclic nucleotide-gated cation channel gamma) (Cyclic nucleotide-gated cation channel modulatory subunit) (Glutamic acid

Protein function

Pore-forming subunit of the rod cyclic nucleotide-gated channel. Mediates rod photoresponses at dim light converting transient changes in intracellular cGMP levels into electrical signals. In the dark, cGMP levels are high and keep the channel o

PDB

7RH9 , 7RHG , 7RHH , 7RHI , 7RHJ , 7RHK , 7RHL , 8DGH , 8DGK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00027	cNMP_binding	980 → 1069	Cyclic nucleotide-binding domain	Domain

Sequence

MLGWVQRVLPQPPGTPRKTKMQEEEEVEPEPEMEAEVEPEPNPEEAETESESMPPEESFK
EEEVAVADPSPQETKEAALTSTISLRAQGAEISEMNSPSRRVLTWLMKGVEKVIPQPVHS
ITEDPAQILGHGSTGDTGCTDEPNEALEAQDTRPGLRLLLWLEQNLERVLPQPPKSSEVW
RDEPAVATGAASDPAPPGRPQEMGPKLQARETPSLPTPIPLQPKEEPKEAPAPEPQPGSQ
AQTSSLPPTRDPARLVAWVLHRLEMALPQPVLHGKIGEQEPDSPGICDVQTISILPGGQV
EPDLVLEEVEPPWEDAHQDVSTSPQGTEVVPAYEEENKAVEKMPRELSRIEEEKEDEEEE
EEEEEEEEEEEVTEVLLDSCVVSQVGVGQSEEDGTRPQSTSDQKLWEEVGEEAKKEAEEK
AKEEAEEVAEEEAEKEPQDWAETKEEPEAEAEAASSGVPATKQHPEVQVEDTDADSCPLM
AEENPPSTVLPPPSPAKSDTLIVPSSASGTHRKKLPSEDDEAEELKALSPAESPVVAWSD
PTTPKDTDGQDRAASTASTNSAIINDRLQELVKLFKERTEKVKEKLIDPDVTSDEESPKP
SPAKKAPEPAPDTKPAEAEPVEEEHYCDMLCCKFKHRPWKKYQFPQSIDPLTNLMYVLWL
FFVVMAWNWNCWLIPVRWAFPYQTPDNIHHWLLMDYLCDLIYFLDITVFQTRLQFVRGGD
IITDKKDMRNNYLKSRRFKMDLLSLLPLDFLYLKVGVNPLLRLPRCLKYMAFFEFNSRLE
SILSKAYVYRVIRTTAYLLYSLHLNSCLYYWASAYQGLGSTHWVYDGVGNSYIRCYYFAV
KTLITIGGLPDPKTLFEIVFQLLNYFTGVFAFSVMIGQMRDVVGAATAGQTYYRSCMDST
VKYMNFYKIPKSVQNRVKTWYEYTWHSQGMLDESELMVQLPDKMRLDLAIDVNYNIVSKV
ALFQGCDRQMIFDMLKRLRSVVYLPNDYVCKKGEIGREMYIIQAGQVQVLGGPDGKSVLV
TLKAGSVFGEISLLAVGGGNRRTANVVAHGFTNLFILDKKDLNEILVHYPESQKLLRKKA
RRMLRSNNKPKEEKSVLILPPRAGTPKLFNAALAMTGKMGGKGAKGGKLAHLRARLKELA
ALEAAAKQQELVEQAKSSQDVKGEEGSAAPDQHTHPKEAATDPPAPRTPPEPPGSPPSSP
PPASLGRPEGEEEGPAEPEEHSVRICMSPGPEPGEQILSVKMPEEREEKAE

Sequence length

1251

Interactions

View interactions

	KEGG		Reactome
	cGMP-PKG signaling pathway cAMP signaling pathway Olfactory transduction Phototransduction		Activation of the phototransduction cascade Inactivation, recovery and regulation of the phototransduction cascade VxPx cargo-targeting to cilium

656

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive retinitis pigmentosa	Pathogenic; Likely pathogenic	rs761839551, rs771833874	RCV001257780 RCV001257779
CNGB1-related disorder	Pathogenic; Likely pathogenic	rs878853394, rs770011113	RCV004730910 RCV004758021
CNGB1-related retinopathy	Likely pathogenic; Pathogenic	rs1064794342	RCV005355941
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2149366536, rs2544630794, rs760430056, rs878853394, rs753353134, rs1959981166, rs1960498164, rs2544630752, rs2544633545, rs2544676588, rs8055343, rs749199721, rs770011113, rs756806434, rs1352458826 View all (11 more)	RCV004815524 RCV003889163 RCV000225473 RCV000225584 RCV001074987 RCV003889746 RCV003889757 RCV003889763 RCV003889767 RCV003889772 RCV003889777 RCV004816631 RCV001074635 RCV001074556 RCV001073841 RCV001074746 RCV004818002 RCV001073842 RCV001075436 RCV001074640 RCV001074639 RCV001073811 RCV001075273 RCV001073762 RCV001073264 RCV004794517 RCV001075139
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs201286463, rs1429797650, rs527236060, rs527236061, rs760430056, rs878853394, rs2544620357, rs1377594602, rs749199721, rs770011113, rs756806434, rs1555488069, rs1555488573, rs760373259, rs1352458826 View all (18 more)	RCV004770069 RCV003323871 RCV000132646 RCV000132647 RCV001723813 RCV000505159 RCV003324692 RCV004801375 RCV001199469 RCV001199466 RCV000504810 RCV000505139 RCV000504823 RCV000504924 RCV000504700 RCV000504793 RCV000504634 RCV000504965 RCV001199467 RCV001199468 RCV000787570 RCV000787569 RCV000787568 RCV000787566 RCV000787567 RCV000989611 RCV000989612 RCV001002975 RCV003324552 RCV005418986 RCV001249871 RCV001249870 RCV000505022
Retinitis pigmentosa 45	Likely pathogenic; Pathogenic	rs201286463, rs368329828, rs2149358592, rs2149359022, rs2149359033, rs772330738, rs755036276, rs750222574, rs2149372033, rs2149358455, rs760430056, rs865818297, rs756239195, rs1427995653, rs375519490 View all (38 more)	RCV005419089 RCV005014483 RCV001376232 RCV001376253 RCV001376251 RCV001376470 RCV005005901 RCV005395006 RCV001533207 RCV001780518 RCV001808207 RCV005254005 RCV005008377 RCV005006247 RCV005008430 RCV002250572 RCV005019279 RCV005019313 RCV005019556 RCV001376356 RCV005016614 RCV000009448 RCV000009449 RCV001376210 RCV004813235 RCV005013254 RCV000408898 RCV002496860 RCV001294190 RCV005010399 RCV001725185 RCV005010443 RCV003989545 RCV005010442 RCV000678544 RCV005409662 RCV005010555 RCV005012298 RCV005021180 RCV002250710 RCV002497323 RCV001376211 RCV002489581 RCV001376469 RCV005012537 RCV005012533 RCV001269023 RCV001269024 RCV005253755 RCV005014284 RCV005012684 RCV001376487 RCV001262931 RCV002498400
See cases	Pathogenic	rs774264204	RCV005912537

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs16942445	RCV005894506
Adrenocortical carcinoma, hereditary	Benign	rs2303785	RCV005888406
Cervical cancer	Benign	rs2303782	RCV005894519
Colon adenocarcinoma	Benign; Likely benign	rs77399988	RCV005894513
Gastric cancer	Benign; Likely benign	rs77399988	RCV005894515
Lung cancer	Benign; Likely benign	rs11867123, rs16942445, rs77399988, rs2303782	RCV005894505 RCV005894511 RCV005894517 RCV005894521
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs2303785, rs11867123	RCV005888407 RCV005894502
Malignant tumor of esophagus	Uncertain significance; Benign; Likely benign	rs559591083, rs11867123, rs16942445, rs77399988, rs2303782	RCV005911024 RCV005894501 RCV005894507 RCV005894514 RCV005894518
Melanoma	Benign; Likely benign	rs11867123	RCV005894504
Optic atrophy	Conflicting classifications of pathogenicity; Uncertain significance	rs146170855, rs201654405	RCV004816261 RCV004814003
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs11867123, rs77399988, rs2303782	RCV005894503 RCV005894516 RCV005894520
Retinitis pigmentosa 49	Conflicting classifications of pathogenicity	rs201553871	RCV000490531
Retinitis Pigmentosa, Recessive	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs199552115, rs71155213, rs886052186, rs866017919, rs769840807, rs886052192, rs3217335, rs141566950, rs144307949, rs565641035, rs71268448, rs2405132, rs6499920, rs7202369, rs142906711	RCV000407515 RCV000295003 RCV000344793 RCV000353741 RCV000335048 RCV000404733 RCV000289559 RCV000307940 RCV000389245 RCV000263579 RCV000333808 RCV000339002 RCV000377283 RCV000290223 RCV000347490 RCV000390053
Sarcoma	Benign	rs16942445	RCV005894508
Thyroid cancer, nonmedullary, 1	-; Benign	rs1596997875, rs16942445	RCV006100640 RCV005894510
Uterine carcinosarcoma	Benign	rs16942445	RCV005894509
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs142930143, rs16942445, rs2303782	RCV005912728 RCV005894512 RCV005894522

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35668376
Anosmia	Associate	29800053
Breast Neoplasms	Associate	35668376
Carcinoma Hepatocellular	Associate	23423978
Congenital Abnormalities	Associate	30624672
Coronary Artery Disease	Associate	35151267
Developmental Disabilities	Associate	30624672
Edema	Associate	30624672
Epilepsy	Associate	30624672
Failure to Thrive	Associate	30624672
Hypertensive Retinopathy	Associate	35743231
Liver Failure	Associate	30624672
Microcephaly	Associate	30624672
Muscle Hypotonia	Associate	30624672
Neoplasms	Associate	26885615
Night blindness congenital stationary	Associate	34064005
Olfaction Disorders	Associate	29800053, 33465333, 37107588
Pontocerebellar Hypoplasia	Associate	30624672
Retinal Degeneration	Associate	26352687, 29800053, 37107588
Retinal Diseases	Associate	25775262
Retinal Dystrophies	Associate	25943428, 27874104
Retinitis Pigmentosa	Associate	20126465, 24339724, 29800053, 29912909, 31960602, 33465333, 35743231, 35814500, 37107588
RHYNS syndrome	Associate	29800053, 37107588
Vision Disorders	Associate	30624672

CNGB1 (cyclic nucleotide gated channel subunit beta 1)