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	2706
Gene name	Gap junction protein beta 2
Gene symbol	GJB2
Synonyms (NCBI Gene)	BAPSCX26DFNA3DFNA3ADFNB1DFNB1AHIDKIDNSRD1PPK
Chromosome	13
Chromosome location	13q12.11
Summary	This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist

141

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1801002	C>A,T	Uncertain-significance, pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28929485	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs28931593	C>T	Pathogenic	Missense variant, coding sequence variant
rs28931594	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs28931595	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs34988750	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs35887622	A>C,G	Benign, conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic, likely-benign, pathogenic	Missense variant, coding sequence variant
rs72474224	C>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, likely-pathogenic, likely-benign, pathogenic	Missense variant, coding sequence variant
rs72561723	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs76434661	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80338939	C>-,CC	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, not-provided, pathogenic	Frameshift variant, coding sequence variant
rs80338940	C>T	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs80338941	C>A,G	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80338942	A>-	Likely-benign, pathogenic	Frameshift variant, coding sequence variant
rs80338943	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs80338944	C>T	Pathogenic	Stop gained, coding sequence variant
rs80338945	A>G	Pathogenic	Missense variant, coding sequence variant
rs80338946	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs80338947	CTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs80338948	G>A	Pathogenic	Missense variant, coding sequence variant
rs80338949	T>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs80338950	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894395	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs104894396	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894397	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894398	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs104894401	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894402	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894403	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894404	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894406	C>A	Pathogenic	Missense variant, coding sequence variant
rs104894407	C>G,T	Likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant
rs104894408	C>A,G	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs104894409	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894410	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894412	G>T	Pathogenic	Missense variant, coding sequence variant
rs104894413	C>G,T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant
rs111033190	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs111033203	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs111033204	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs111033217	T>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs111033222	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs111033225	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs111033253	CTTGATGAACTTCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs111033293	T>A,C	Likely-pathogenic, pathogenic	Missense variant, initiator codon variant
rs111033294	T>C	Pathogenic	Missense variant, coding sequence variant
rs111033295	T>A,G	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs111033296	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs111033297	G>A	Pathogenic	Stop gained, coding sequence variant
rs111033299	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs111033327	G>A	Benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant
rs111033335	TCCAGACAC>GAATGTCATGAACACTG	Pathogenic-likely-pathogenic, pathogenic	Stop gained, inframe indel, coding sequence variant
rs111033360	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs111033361	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs111033401	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs111033420	G>A,T	Likely-pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs111033451	G>A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs121912968	T>C	Pathogenic	Missense variant, coding sequence variant
rs141774369	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs141962118	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs143343083	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs150529554	C>A,T	Likely-benign, uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs199883710	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs200104362	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201004645	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201895089	T>C,G	Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Splice acceptor variant
rs371024165	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs371086981	A>C,G	Pathogenic, uncertain-significance, likely-pathogenic	Initiator codon variant, missense variant
rs375759781	G>A,C	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs376898963	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs397516871	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516873	ATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs397516874	G>A	Pathogenic	Stop gained, coding sequence variant
rs397516875	C>A,T	Pathogenic, uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs397516877	G>T	Pathogenic	Coding sequence variant, missense variant
rs397516878	A>G	Likely-benign, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs529500747	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs532203068	T>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs561870637	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs568612627	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs587783644	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs587783645	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587783646	CA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs587783647	TCTA>-	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs727503066	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs727504302	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs730880338	->A	Pathogenic	Frameshift variant, coding sequence variant
rs747847191	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs750188782	ACACGTTCTTGCAGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs756484720	TT>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs763572195	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs767178508	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs769486081	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs770116143	CT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs771748289	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs772264564	A>T	Pathogenic	Stop gained, coding sequence variant
rs773528125	->CGTT	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs774518779	C>T	Pathogenic	Coding sequence variant, missense variant
rs775828835	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs779018464	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs781534323	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs781767722	T>C	Pathogenic	Coding sequence variant, missense variant
rs786204491	->T	Pathogenic	Coding sequence variant, stop gained
rs786204597	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs786204690	G>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs786204734	C>A,T	Pathogenic, likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs797045596	CCCTTGATGAACTTCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs876657693	GTGTTGGGACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs878853241	A>G	Pathogenic	Coding sequence variant, missense variant
rs879253741	C>A	Pathogenic	Coding sequence variant, missense variant
rs886037624	CCAATGCTGGTG>T	Pathogenic	Coding sequence variant, frameshift variant
rs886037625	->ACGTG	Pathogenic	Coding sequence variant, frameshift variant
rs886037849	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs998045226	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057517491	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517508	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517519	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1057517521	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064797088	C>T	Pathogenic	Coding sequence variant, missense variant
rs1064797089	G>T	Pathogenic	Coding sequence variant, missense variant
rs1064797090	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1131691709	T>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs1273330603	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1291519904	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1302739538	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs1422767764	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555341783	TTTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555341794	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555341926	->ACTC	Likely-pathogenic	Stop gained, inframe insertion, coding sequence variant
rs1555341931	CC>T	Pathogenic	Coding sequence variant, frameshift variant
rs1555341949	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555341954	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555341960	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555341993	AC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555342003	AGA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1555342007	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555342014	C>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1566528185	->AAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTC	Pathogenic	Stop gained, coding sequence variant
rs1566528711	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566528901	CCT>-	Pathogenic	Coding sequence variant, inframe deletion
rs1593351503	A>G	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (77)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016358	hsa-miR-193b-3p	Microarray	20304954
MIRT017821	hsa-miR-335-5p	Microarray	18185580
MIRT496250	hsa-miR-4524b-3p	PAR-CLIP	22291592
MIRT496249	hsa-miR-1245b-5p	PAR-CLIP	22291592
MIRT496248	hsa-miR-3142	PAR-CLIP	22291592
MIRT496247	hsa-miR-5704	PAR-CLIP	22291592
MIRT496246	hsa-miR-1295a	PAR-CLIP	22291592
MIRT735549	hsa-miR-892a	Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)qRT-PCR	33664589
MIRT496250	hsa-miR-4524b-3p	PAR-CLIP	22291592
MIRT496249	hsa-miR-1245b-5p	PAR-CLIP	22291592
MIRT496248	hsa-miR-3142	PAR-CLIP	22291592
MIRT496247	hsa-miR-5704	PAR-CLIP	22291592
MIRT496246	hsa-miR-1295a	PAR-CLIP	22291592
MIRT1019749	hsa-miR-1285	CLIP-seq
MIRT1019750	hsa-miR-2277-3p	CLIP-seq
MIRT1019751	hsa-miR-3152-5p	CLIP-seq
MIRT1019752	hsa-miR-3179	CLIP-seq
MIRT1019753	hsa-miR-3187-5p	CLIP-seq
MIRT1019754	hsa-miR-3612	CLIP-seq
MIRT1019755	hsa-miR-3622a-3p	CLIP-seq
MIRT1019756	hsa-miR-3622b-3p	CLIP-seq
MIRT1019757	hsa-miR-3663-3p	CLIP-seq
MIRT1019758	hsa-miR-3929	CLIP-seq
MIRT1019759	hsa-miR-3936	CLIP-seq
MIRT1019760	hsa-miR-3976	CLIP-seq
MIRT1019761	hsa-miR-409-3p	CLIP-seq
MIRT1019762	hsa-miR-4307	CLIP-seq
MIRT1019763	hsa-miR-4419b	CLIP-seq
MIRT1019764	hsa-miR-4423-5p	CLIP-seq
MIRT1019765	hsa-miR-4443	CLIP-seq
MIRT1019766	hsa-miR-4478	CLIP-seq
MIRT1019767	hsa-miR-4649-3p	CLIP-seq
MIRT1019768	hsa-miR-4663	CLIP-seq
MIRT1019769	hsa-miR-4795-3p	CLIP-seq
MIRT1019770	hsa-miR-4796-5p	CLIP-seq
MIRT1019771	hsa-miR-485-5p	CLIP-seq
MIRT1019772	hsa-miR-5096	CLIP-seq
MIRT1019773	hsa-miR-544b	CLIP-seq
MIRT1019774	hsa-miR-612	CLIP-seq
MIRT1019775	hsa-miR-626	CLIP-seq
MIRT1019776	hsa-miR-642a	CLIP-seq
MIRT1019777	hsa-miR-650	CLIP-seq
MIRT1019778	hsa-miR-944	CLIP-seq
MIRT1019752	hsa-miR-3179	CLIP-seq
MIRT1019754	hsa-miR-3612	CLIP-seq
MIRT1019758	hsa-miR-3929	CLIP-seq
MIRT1019759	hsa-miR-3936	CLIP-seq
MIRT1019763	hsa-miR-4419b	CLIP-seq
MIRT1019765	hsa-miR-4443	CLIP-seq
MIRT1019766	hsa-miR-4478	CLIP-seq
MIRT1019771	hsa-miR-485-5p	CLIP-seq
MIRT1019777	hsa-miR-650	CLIP-seq
MIRT1019752	hsa-miR-3179	CLIP-seq
MIRT1019754	hsa-miR-3612	CLIP-seq
MIRT1019758	hsa-miR-3929	CLIP-seq
MIRT1019759	hsa-miR-3936	CLIP-seq
MIRT1019763	hsa-miR-4419b	CLIP-seq
MIRT1019765	hsa-miR-4443	CLIP-seq
MIRT1019766	hsa-miR-4478	CLIP-seq
MIRT1019771	hsa-miR-485-5p	CLIP-seq
MIRT2388478	hsa-miR-555	CLIP-seq
MIRT1019777	hsa-miR-650	CLIP-seq
MIRT1019752	hsa-miR-3179	CLIP-seq
MIRT1019754	hsa-miR-3612	CLIP-seq
MIRT1019758	hsa-miR-3929	CLIP-seq
MIRT1019759	hsa-miR-3936	CLIP-seq
MIRT2538863	hsa-miR-4318	CLIP-seq
MIRT1019763	hsa-miR-4419b	CLIP-seq
MIRT1019765	hsa-miR-4443	CLIP-seq
MIRT1019766	hsa-miR-4478	CLIP-seq
MIRT2538864	hsa-miR-4693-5p	CLIP-seq
MIRT2538865	hsa-miR-4694-3p	CLIP-seq
MIRT1019771	hsa-miR-485-5p	CLIP-seq
MIRT2538866	hsa-miR-522	CLIP-seq
MIRT2538867	hsa-miR-592	CLIP-seq
MIRT2538868	hsa-miR-597	CLIP-seq
MIRT1019777	hsa-miR-650	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005243	Function	Gap junction channel activity	IDA	12767933, 21094651
GO:0005243	Function	Gap junction channel activity	IEA
GO:0005509	Function	Calcium ion binding	IDA	26753910
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	TAS
GO:0005886	Component	Plasma membrane	IDA	12767933, 21094651
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005921	Component	Gap junction	IDA	12767933
GO:0005921	Component	Gap junction	IEA
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IDA	21094651
GO:0005922	Component	Connexin complex	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007267	Process	Cell-cell signaling	ISS
GO:0007605	Process	Sensory perception of sound	IEA
GO:0010644	Process	Cell communication by electrical coupling	IEA
GO:0016020	Component	Membrane	IEA
GO:0016264	Process	Gap junction assembly	IDA	12767933
GO:0016264	Process	Gap junction assembly	IEA
GO:0042802	Function	Identical protein binding	IPI	17551008, 19340074
GO:0046872	Function	Metal ion binding	IEA
GO:0055085	Process	Transmembrane transport	IDA	12767933
GO:0070161	Component	Anchoring junction	IEA
GO:1903763	Function	Gap junction channel activity involved in cell communication by electrical coupling	IDA	12767933
GO:1990349	Process	Gap junction-mediated intercellular transport	IBA
GO:1990349	Process	Gap junction-mediated intercellular transport	IDA	12767933, 21094651
GO:1990349	Process	Gap junction-mediated intercellular transport	IEA

MIM	HGNC	e!Ensembl
121011	4284	ENSG00000165474

P29033

Protein name

Gap junction beta-2 protein (Connexin-26) (Cx26)

Protein function

Structural component of gap junctions (PubMed:16849369, PubMed:17551008, PubMed:19340074, PubMed:19384972, PubMed:21094651, PubMed:26753910). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed b

PDB

2ZW3 , 3IZ1 , 3IZ2 , 5ER7 , 5ERA , 5KJ3 , 5KJG , 6UVR , 6UVS , 6UVT , 7QEO , 7QEQ , 7QER , 7QES , 7QET , 7QEU , 7QEV , 7QEW , 7QEY , 8Q9Z , 8QA0 , 8QA1 , 8QA2 , 8QA3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00029	Connexin	2 → 215	Connexin	Family

Sequence

MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGC
KNVCYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEE
IKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDGFSMQRLVKCNAWPCPNTVDC
FVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV

Sequence length

226

Interactions

View interactions

	Reactome
			Transport of connexons to the plasma membrane

1052

Show/Hide Causal Diseases (43)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Pathogenic	rs80338943, rs111033204	RCV003313925 RCV003313933
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome	Likely pathogenic; Pathogenic	rs2137307322, rs1555341945, rs35887622, rs28931594, rs104894408, rs28929485, rs72561723, rs1566528711	RCV001730114 RCV004565138 RCV004783726 RCV000018546 RCV000018548 RCV000018549 RCV000018556 RCV000018561 RCV000735855
Autosomal dominant nonsyndromic hearing loss 3A	Likely pathogenic; Pathogenic	rs587783647, rs786204597, rs532203068, rs35887622, rs104894396, rs104894397, rs80338939, rs80338950, rs80338948, rs80338942, rs104894402, rs80338943, rs80338945, rs104894401, rs104894406 View all (27 more)	RCV000411907 RCV000411925 RCV000490342 RCV000487479 RCV000411010 RCV000412297 RCV000411531 RCV001112462 RCV001196233 RCV000409300 RCV000018535 RCV000410166 RCV000409625 RCV000018542 RCV000018544 RCV000018545 RCV001002768 RCV000018553 RCV000018555 RCV003147300 RCV000018559 RCV000410225 RCV000412324 RCV000409438 RCV000409815 RCV000411084 RCV000410120 RCV000410947 RCV000411693 RCV000410366 RCV001109960 RCV000022511 RCV000487475 RCV000623392 RCV001836634 RCV000411009 RCV000411497 RCV000412394 RCV000409236 RCV000411577 RCV001078465 RCV000721922 RCV001809798
Autosomal recessive nonsyndromic hearing loss 104	Pathogenic; Likely pathogenic	rs80338939, rs80338940	RCV003335044 RCV003458323
Autosomal recessive nonsyndromic hearing loss 1A	Likely pathogenic; Pathogenic	rs370696868, rs80338939, rs760489970, rs199883710, rs2137307658, rs2137308740, rs1555341986, rs1959060696, rs587783647, rs587783646, rs143343083, rs104894407, rs777225786, rs727503066, rs730880338 View all (98 more)	RCV005431465 RCV000169169 RCV003232335 RCV005438075 RCV001822874 RCV001729948 RCV002051744 RCV002051745 RCV000175766 RCV000169500 RCV000169347 RCV000984267 RCV004577374 RCV005237586 RCV000154347 RCV000505508 RCV000169112 RCV005629670 RCV000169350 RCV000169613 RCV000169473 RCV000169498 RCV000169446 RCV000169160 RCV000169070 RCV000169604 RCV000169176 RCV000169292 RCV000169075 RCV004796760 RCV005869992 RCV001276815 RCV000194203 RCV000210857 RCV000416724 RCV000490342 RCV000587164 RCV003236760 RCV000374903 RCV003493993 RCV000018523 RCV000018524 RCV000018525 RCV000018526 RCV000018527 RCV000018529 RCV000018530 RCV000018531 RCV000018533 RCV000018534 RCV000018537 RCV000018538 RCV000018541 RCV000018543 RCV000018550 RCV000018552 RCV000210858 RCV000018557 RCV000018560 RCV000022510 RCV000018564 RCV000020570 RCV000020575 RCV000411838 RCV000411799 RCV000409580 RCV000412105 RCV000409450 RCV000410601 RCV000409687 RCV000416425 RCV003236759 RCV005431707 RCV000505521 RCV000664954 RCV000855645 RCV000588025 RCV000586317 RCV000597784 RCV000505512 RCV000037820 RCV000037821 RCV005237459 RCV000675160 RCV000037834 RCV000037835 RCV000037836 RCV000409896 RCV000410006 RCV000037844 RCV000037846 RCV000289146 RCV000037855 RCV000667555 RCV000037866 RCV000037868 RCV000410025 RCV000666282 RCV000665870 RCV000673989 RCV000670090 RCV000672814 RCV000674832 RCV000665536 RCV000665123 RCV000669046 RCV000664585 RCV000668607 RCV000665228 RCV000670427 RCV000667085 RCV000667043 RCV000664869 RCV001089546 RCV002287436 RCV000721943 RCV005860137 RCV000770823 RCV000778387 RCV001835954 RCV000781416 RCV000785599 RCV004789378 RCV001175165 RCV004768913
Autosomal recessive nonsyndromic hearing loss 1B	Pathogenic; Likely pathogenic	rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs80338942, rs80338943, rs80338945, rs72474224, rs80338940, rs111033204, rs111033253, rs104894408, rs76434661, rs111033294	RCV001004397 RCV001004393 RCV001004398 RCV001004394 RCV001004400 RCV001004395 RCV001004392 RCV001004391 RCV001004396 RCV001004401 RCV001004390 RCV001004389 RCV001004399 RCV001004388 RCV001004386
Bilateral conductive hearing impairment	Pathogenic	rs80338939	RCV000415367
Bilateral sensorineural hearing impairment	Pathogenic	rs80338939	RCV000414886
Cervical cancer	Likely pathogenic	rs201895089	RCV005900709
Clear cell carcinoma of kidney	Likely pathogenic	rs201895089	RCV005900710
CREBBP-related disorder	Pathogenic	rs111033204	RCV005222723
Deafness	Pathogenic; Likely pathogenic	rs80338939, rs80338945, rs150529554	RCV000509532 RCV001775068 RCV000679816
Deafness, digenic, GJB2/GJB3	Pathogenic	rs80338943	RCV000018539
Deafness, digenic, GJB2/GJB6	Pathogenic	rs80338939	RCV000018528
Ear malformation	Pathogenic; Likely pathogenic	rs773528125, rs80338939, rs80338940	RCV001814083 RCV001813994 RCV001813995
GJB2-related disorder	Likely pathogenic; Pathogenic	rs587783647, rs587783646, rs143343083, rs771748289, rs773528125, rs781534323, rs104894413, rs763572195, rs532203068, rs35887622, rs104894396, rs104894397, rs80338939, rs104894398, rs80338948 View all (17 more)	RCV004734703 RCV004528870 RCV004734702 RCV004535149 RCV004539571 RCV004528922 RCV004734765 RCV006270568 RCV004530262 RCV004724749 RCV004734522 RCV004532383 RCV004532384 RCV004734523 RCV004532385 RCV000346888 RCV004528121 RCV004734524 RCV003335045 RCV004532386 RCV003335046 RCV004532387 RCV004734527 RCV004529564 RCV004735500 RCV004530500 RCV004530519 RCV004534804 RCV004734552 RCV004534806 RCV004734553 RCV004734554 RCV004534808 RCV000778388
Hearing impairment	Likely pathogenic; Pathogenic	rs80338939, rs587783647, rs587783646, rs143343083, rs587783645, rs104894407, rs35887622, rs104894396, rs104894397, rs104894398, rs80338947, rs80338948, rs80338942, rs80338943, rs80338945 View all (12 more)	RCV001375474 RCV000146027 RCV000146026 RCV000146015 RCV000146009 RCV000146007 RCV001375142 RCV000146028 RCV001526518 RCV000146019 RCV000146008 RCV000146018 RCV000146023 RCV000146010 RCV000146011 RCV000146013 RCV000146005 RCV005624697 RCV000146002 RCV000146012 RCV000146020 RCV000146024 RCV000146014 RCV000146016 RCV000146017 RCV000146021 RCV000146022 RCV000146025
Hearing loss	Likely pathogenic; Pathogenic	rs80338939, rs143343083, rs730880338, rs756484720, rs35887622, rs104894396, rs104894398, rs80338947, rs80338950, rs80338948, rs80338942, rs104894403, rs80338943, rs80338945, rs28931594 View all (14 more)	RCV000678861 RCV000678877 RCV000678876 RCV000678879 RCV000678866 RCV000678864 RCV000678860 RCV000678867 RCV000678881 RCV000678888 RCV000678885 RCV000678869 RCV000678871 RCV000678874 RCV000678875 RCV000678868 RCV000678858 RCV000678862 RCV000678863 RCV000678889 RCV000678865 RCV000678870 RCV000678878 RCV000678859 RCV000678882 RCV000678883 RCV000678884 RCV000678892 RCV000678887 RCV000678886 RCV000678872
Hearing loss, autosomal recessive	Pathogenic; Likely pathogenic	rs80338944, rs104894396, rs80338939, rs104894402, rs72474224, rs28931593, rs80338940, rs150529554	RCV001291332 RCV001291329 RCV001270107 RCV001291330 RCV004699117 RCV001291331 RCV001291328 RCV001291333
Hepatocellular carcinoma	Likely pathogenic	rs201895089	RCV005900707
Hereditary palmoplantar keratoderma	Pathogenic; Likely pathogenic	rs104894396, rs80338939, rs104894402, rs28931593, rs80338940	RCV004798735 RCV004798736 RCV001257037 RCV001257038 RCV004798737
Ichthyosis and erythrokeratoderma	Pathogenic	rs28931594	RCV005646842
Ichthyosis, hystrix-like, with hearing loss	Pathogenic; Likely pathogenic	rs104894396, rs80338945, rs28931594, rs201895089	RCV001112641 RCV001109788 RCV000018547 RCV001109959
IFAP syndrome 1, with or without BRESHECK syndrome	Pathogenic	rs781767722	RCV000766235
Intellectual disability	Pathogenic; Likely pathogenic	rs80338939, rs76434661	RCV005624696 RCV005625227
Knuckle pads, deafness AND leukonychia syndrome	Pathogenic; Likely pathogenic	rs80338944, rs104894396, rs80338939, rs80338948, rs80338942, rs80338943, rs80338945, rs72474224, rs80338940, rs104894412, rs1801002, rs201895089, rs111033253, rs76434661	RCV005229816 RCV005229817 RCV001542777 RCV005357139 RCV005357140 RCV005357141 RCV005364882 RCV005357142 RCV005364883 RCV000018558 RCV005357157 RCV005355708 RCV005357269 RCV005357270
Malignant tumor of urinary bladder	Likely pathogenic	rs201895089	RCV005900706
Melanoma	Likely pathogenic	rs201895089	RCV005900712
Monogenic hearing loss	Pathogenic; Likely pathogenic	rs756484720, rs371024165, rs575453513, rs80338944, rs80338947, rs80338942, rs1057517521, rs111033293, rs111033253, rs111033190	RCV005638459 RCV005860022 RCV005862542 RCV005862503 RCV006272082 RCV006261939 RCV005645080 RCV006255137 RCV005859481 RCV006258939
Mutilating keratoderma	Pathogenic; Likely pathogenic	rs104894396, rs80338939, rs80338948, rs80338942, rs104894403, rs80338943, rs80338945, rs28931594, rs72474224, rs80338940, rs1801002, rs201895089, rs111033253, rs104894408, rs76434661, rs998045226 View all (1 more)	RCV002247354 RCV005357138 RCV005357139 RCV000291910 RCV000018536 RCV005357141 RCV005364882 RCV002247355 RCV005357142 RCV005364883 RCV005357157 RCV005355708 RCV005357269 RCV002247424 RCV005357270 RCV002249403
Nonpapillary renal cell carcinoma	Likely pathogenic	rs201895089	RCV005900708
Nonsyndromic Deafness	Pathogenic; Likely pathogenic	rs730880338, rs35887622, rs72474224, rs28931593, rs111033299	RCV001270032 RCV001270137 RCV001270106 RCV004771802 RCV006255138
Nonsyndromic genetic hearing loss	Likely pathogenic; Pathogenic	rs756467247, rs587783646, rs730880338, rs727504302, rs2500250227, rs786204597, rs756484720, rs781534323, rs575453513, rs2500253846, rs532203068, rs35887622, rs104894396, rs104894397, rs80338939 View all (40 more)	RCV003331179 RCV005632251 RCV001257559 RCV005237590 RCV002444408 RCV005055667 RCV001257562 RCV001257041 RCV004690348 RCV003315266 RCV001252673 RCV000211758 RCV000211778 RCV001257039 RCV000211775 RCV001257036 RCV001257563 RCV001257160 RCV001257564 RCV000211757 RCV001257037 RCV000211768 RCV001257157 RCV006262323 RCV000211759 RCV001257038 RCV001257033 RCV001257042 RCV001257034 RCV001257035 RCV001257565 RCV004767246 RCV001257156 RCV001171533 RCV000710316 RCV002281716 RCV001004776 RCV004595511 RCV001252676 RCV002232559 RCV003990963 RCV001252671 RCV001257560 RCV001257561 RCV001527052 RCV000037839 RCV001257566 RCV001293597 RCV001779042 RCV003991034 RCV001257040 RCV003991035 RCV004689868 RCV001004778 RCV003317365 RCV004017739 RCV003230592 RCV001251625
nonsyndromic sensorineural hearing loss	Likely pathogenic; Pathogenic	rs760489970, rs143343083, rs1057517519, rs111033190, rs1291519904	RCV001374649 RCV001374647 RCV001374656 RCV001374640 RCV001374648
Noonan syndrome 1	Pathogenic	rs1593351503	RCV000991326
Palmoplantar keratoderma-deafness syndrome	Pathogenic; Likely pathogenic	rs879253741, rs104894396, rs80338939, rs80338948, rs80338942, rs104894402, rs80338943, rs104894404, rs80338945, rs72474224, rs28931593, rs80338940, rs121912968, rs1801002, rs201895089, rs104894410, rs111033253, rs76434661 View all (3 more)	RCV000234850 RCV003388568 RCV005357138 RCV005357139 RCV005357140 RCV001799506 RCV005357141 RCV000018540 RCV005364882 RCV005357142 RCV000018554 RCV005364883 RCV000018565 RCV005357157 RCV005355708 RCV000588875 RCV005357269 RCV005357270
Porokeratotic adnexal ostial nevus	Pathogenic	rs1555341945	RCV005863610
Progressive sensorineural hearing impairment	Pathogenic	rs104894409	RCV000626853
Rare genetic deafness	Likely pathogenic; Pathogenic	rs80338939, rs587783647, rs143343083, rs727503066, rs104894404, rs730880338, rs727504302, rs72474224, rs771748289, rs773528125, rs756484720, rs104894395, rs371024165, rs876657693, rs774518779 View all (40 more)	RCV000609278 RCV000217521 RCV000215444 RCV000150729 RCV000150733 RCV000211771 RCV000154345 RCV000156043 RCV000609655 RCV004017450 RCV000616234 RCV000218259 RCV000614720 RCV000213910 RCV004017573 RCV000844701 RCV000211767 RCV000844631 RCV000211765 RCV000844702 RCV000211760 RCV000211776 RCV000211781 RCV000211779 RCV000844699 RCV000211763 RCV000844630 RCV000211772 RCV000211764 RCV000211766 RCV000211770 RCV000211769 RCV000211720 RCV000602210 RCV000825565 RCV000826191 RCV000603609 RCV000826112 RCV000037813 RCV000211761 RCV000211718 RCV000211762 RCV000037832 RCV000211719 RCV000211773 RCV000211774 RCV000037837 RCV000844703 RCV000211721 RCV000211777 RCV000037851 RCV000037852 RCV000211780 RCV000037856 RCV000211782 RCV000211783 RCV000037873 RCV000037874
Sarcoma	Likely pathogenic	rs201895089	RCV005900711
See cases	Pathogenic	rs35887622, rs80338942, rs80338945	RCV002251910 RCV002227040 RCV002227041
Sensorineural hearing loss disorder	Pathogenic	rs80338944, rs104894396, rs28931594	RCV005420505 RCV005420506 RCV001175247
Severe sensorineural hearing impairment	Pathogenic	rs80338939	RCV000415175

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal recessive nonsyndromic hearing loss 12	Uncertain significance	rs878853241	RCV000225073
Keratitis ichthyosis and deafness syndrome	Uncertain significance; Benign	rs886050025, rs11839674	RCV000259327 RCV000329077
Lung cancer	Uncertain significance	rs551625098	RCV005901438
Nonsyndromic Hearing Loss, Dominant	Uncertain significance; Benign	rs886050025, rs11839674	RCV000319140 RCV000398293
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs35887622	RCV005889086

Show/Hide Text Mining Associations (115)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	18278224, 24804242, 26399936, 26896187, 33638616
Abnormalities Drug Induced	Associate	30287322
Acrocephalosyndactylia	Associate	15482471
Adenocarcinoma of Lung	Associate	32243356, 34111567, 35196203, 35571564, 35689561, 35783192
Age Related Hearing Impairment 1	Associate	24959830
Anophthalmia with pulmonary hypoplasia	Associate	32228510
Arthritis Psoriatic	Associate	22298274, 9008232, 9665389
Auditory Neuropathy Nonsyndromic Recessive	Associate	33466560
Autoimmune Lymphoproliferative Syndrome	Associate	21298644
Bone Diseases	Associate	19235794, 21298644
Breast Neoplasms	Associate	14681046, 16567471, 23374644, 31292488, 32918981
Carcinogenesis	Associate	11912510, 11918723, 34111567
Carcinoma Endometrioid	Associate	26299454
Carcinoma Hepatocellular	Inhibit	15334670
Carcinoma Hepatocellular	Associate	34830068, 36498978
Carcinoma Non Small Cell Lung	Associate	19550132
Cochlear Diseases	Associate	21298644
Cochleosaccular degeneration of the inner ear and progressive cataracts	Associate	16885744
Colonic Diseases	Associate	23437299
Colorectal Neoplasms	Associate	15770735, 16207476, 20565955, 23386606
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	18278224
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	15140211, 28222800
Deafness	Associate	10204859, 10353784, 10633135, 10903123, 11807148, 11977173, 12083723, 12172394, 14571368, 14985372, 15070423, 15113126, 15245427, 15365987, 15790391 View all (130 more)
Deafness	Stimulate	26061264
Deafness Autosomal Dominant 1	Associate	16648378
Deafness autosomal dominant nonsyndromic sensorineural 3	Associate	10353784, 19274344
Deafness Autosomal Recessive	Associate	10204859, 10903123, 22567152, 9482292
Deafness Autosomal Recessive	Stimulate	18656178
Deafness Autosomal Recessive 1A	Associate	31195736, 37239361
Deafness X Linked 1	Associate	10544226
Deafness X Linked 4	Associate	35126756
Depressive Disorder	Associate	23430402
Diabetic Nephropathies	Associate	29587265
Disease	Associate	15245427, 28428247
Dupuytren Contracture	Associate	24359029
Dystonic Disorders	Associate	12172394
Ectodermal Dysplasia	Associate	15140211, 15245427, 17106596, 25575739
Endometrial Neoplasms	Associate	18519234, 19820388
Epidermal Cyst	Associate	14681040, 24945352
Epilepsies Partial	Associate	20031451
Erythrokeratoderma Reticular	Associate	15245427
Esophageal Neoplasms	Associate	22502669
Genetic Diseases Inborn	Associate	10633135
Glut1 Deficiency Syndrome	Associate	30150638
Head and Neck Neoplasms	Associate	17695503
Headache	Associate	15823911
Hearing Disorders	Associate	10544226, 16849369, 31564438, 38037722
Hearing Loss	Associate	10544226, 10633133, 10633135, 10739769, 10807696, 11134236, 11483639, 12172394, 14571368, 14681040, 14985372, 15070423, 15140211, 15365987, 15482471 View all (165 more)
Hearing Loss	Stimulate	26061264, 37996878
Hearing Loss Bilateral	Associate	30146550, 31871493
Hearing Loss Noise Induced	Associate	25484013, 38212800
Hearing Loss Sensorineural	Associate	10544226, 10633135, 11912510, 15140211, 16840571, 17119768, 18787097, 18941476, 19235794, 20083784, 20146813, 20236118, 20835527, 21122151, 21131880 View all (38 more)
Hearing Loss Sensorineural	Stimulate	35853923
Hemochromatosis	Associate	29270100
Hereditary leiomyomatosis and renal cell cancer	Associate	11379007
Hyperkeratosis Epidermolytic	Associate	10633135, 24346921
Hyperthyroidism	Associate	37876543
Ichthyosis	Associate	27409001, 30287322
Immune System Diseases	Associate	30150638
Infant Death	Associate	30287322
Inflammation	Stimulate	27417573
Inflammatory Bowel Diseases	Associate	27417573
Keratitis	Associate	27409001, 30287322
Keratitis Ichthyosis and Deafness (KID) Syndrome	Associate	25422938
Keratitis Ichthyosis Deafness Syndrome	Associate	11912510, 11918723, 15140211, 15245427, 15482471, 15823911, 16885744, 17106596, 22592158, 23924173, 24785414, 25422938, 25575739, 25625422, 26831144 View all (7 more)
Keratoderma Palmoplantar	Associate	10633135, 11912510, 15140211, 18787097, 20096356, 20890442, 24945352, 26763442, 28872160, 33443819
Knuckle pads leuconychia and sensorineural deafness	Associate	15482471
Labyrinth Diseases	Associate	21298644, 24551843
Language Disorders	Associate	31871493
Laryngomalacia	Associate	37239394
Lymphatic Metastasis	Associate	16567471
Lymphedema	Associate	16941638
Melanoma	Associate	17614106, 37435067
Mitochondrial Diseases	Associate	32400865
Mullerian aplasia	Associate	16650419
Multiple Pterygium Syndrome Autosomal Dominant	Associate	25153233
Nail Diseases	Associate	15245427
Neoplasm Metastasis	Associate	17614106, 23169284
Neoplasms	Associate	14681046, 15770735, 16207476, 18288642, 1849277, 18519234, 22502669, 35861108, 37648762, 8863679
Neoplasms	Inhibit	16613782, 17695503, 20565955
Neoplastic Syndromes Hereditary	Associate	15719042, 17041943, 18941476, 20668687, 23469187, 23504403, 24156272, 25149889, 25628337, 26178431, 26668150, 27247933, 28429364, 28862181, 28925492 View all (8 more)
Nevus	Associate	22592158
Nonsyndromic Deafness	Associate	10739769, 16380907, 16941638, 17505205, 17581693, 17698299, 19274344, 19366456, 19744334, 19904449, 20373850, 20890442, 21122151, 21205314, 21298213 View all (48 more)
Nonsyndromic Deafness	Stimulate	9529365
Nonsyndromic sensorineural hearing loss	Associate	10633133, 11134236, 11912510, 14985372, 15113126, 16371502, 16849369, 17119768, 17428550, 17660464, 17666888, 19366456, 20096356, 21162657, 21287563 View all (40 more)
Nonsyndromic sensorineural hearing loss	Stimulate	21726435, 35805969
Optic Atrophy	Associate	16648378
Osteoporosis	Associate	26668150
Otitis Media	Associate	31876389
Ototoxicity	Associate	28717060
Ovarian Neoplasms	Associate	31794425
Palmoplantar Keratoderma with Deafness	Associate	20890442, 26763442
Pancreatic Neoplasms	Associate	15870276, 23363606
Pancreatic Neoplasms	Stimulate	28177904
Pendred syndrome	Associate	28222800
Polycystic liver disease	Associate	10807696
Psoriasis	Associate	22298274
Respiratory Insufficiency	Associate	30287322
Retinitis Pigmentosa	Associate	22842402
Semicircular Canal Dehiscence	Associate	21298644
Severe Acute Respiratory Syndrome	Associate	11483639, 25636251, 30733538
Skin Abnormalities	Associate	18787097, 26831144
Skin Diseases	Associate	14681040, 15245427, 18787097, 23035047, 25153233, 26763442, 28158657, 28428247
Skin Diseases	Stimulate	16091133
Skin Manifestations	Associate	20031451, 28872160
Sleep Apnea Syndromes	Associate	25422938
Small Cell Lung Carcinoma	Associate	32243356
Tinnitus	Associate	38212800
Uniparental Disomy	Associate	34325055
Urinary Bladder Neoplasms	Associate	18288642, 23579952, 36451132
Usher Syndromes	Associate	22842402, 26429191, 31985074
Vestibular Diseases	Associate	21465647
Vohwinkel syndrome	Associate	15140211, 15482471, 17106596, 20031451, 24346921
Waardenburg Syndrome	Associate	32199281
Warts	Stimulate	16091133

GJB2 (gap junction protein beta 2)