GJB1 (Gap junction beta-1 protein) variants and mutations
GJB1 (also known as Gap junction beta-1 protein) is a human protein-coding gene encoding a gap junction beta-1 protein. It forms connexin 32 channels that support metabolic and signaling communication across layers of peripheral myelin produced by Schwann cells. Pathogenic variants cause X-linked Charcot-Marie-Tooth disease type 1, often with transient central nervous system manifestations in some individuals. This analysis covers 861 GJB1 variants and mutations. Of these, 43% have computational variant effect predictions. Disease context includes Charcot-Marie-Tooth disease X-linked dominant 1, X-linked Charcot-Marie-Tooth disease type 1, and Charcot-Marie-Tooth disease. Example GJB1 variants include M1I, M1K, and M1L.
Variant analysis overview
- Gene: GJB1
- Protein: Gap junction beta-1 protein
- UniProt accession: P08034
- Organism: Homo sapiens
- Variants analyzed: 861
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 623 unspecified-consequence records; 123 synonymous variants; 93 missense variants; 5 frameshift variants; 2 in-frame deletions; 3 stop-gained variants; 3 stop lost; 1 stop retained variant; 14 substitution
- Prediction scores: 372 variants have prediction scores (43% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Charcot-Marie-Tooth disease X-linked dominant 1, X-linked Charcot-Marie-Tooth disease type 1, Charcot-Marie-Tooth disease, hereditary disease, peripheral neuropathy, Dejerine-Sottas syndrome, neuropathy, hereditary motor and sensory neuropathy, neuropathy, hereditary motor and sensory, type 6A, Charcot-Marie-Tooth disease type 3, X-linked progressive cerebellar ataxia, Hammer Toe Syndrome.
Protein structure and variant hotspots
- Protein features: 4 transmembrane segments; 4 post-translational modification sites.
- Structural context: 265 variants have structural context.
- PTM context: 9 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable GJB1 variants
Examples include M1I, M1K, M1L, M1R, M1T, M1V, N2K, N2S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs1602348524, ClinGen CA413499253, ClinVar RCV003064736, ClinGen CA413499257, Pathogenic, Charcot-Marie-Tooth Neuropathy X
- M1K (p.Met1Lys), rs1602348519, ClinGen CA413499247, ClinVar RCV001220843, Pathogenic, Charcot-Marie-Tooth Neuropathy X
- M1L (p.Met1Leu), rs1602348517, ClinGen CA413499240, ClinVar RCV000789288, Uncertain significance, Charcot-Marie-Tooth disease
- M1R (p.Met1Arg), rs1602348519, ClinGen CA413499243, ClinVar RCV000789841, Uncertain significance, Charcot-Marie-Tooth disease
- M1T (p.Met1Thr), rs1602348519, ClinGen CA413499250, ClinVar RCV001388320, Pathogenic, Charcot-Marie-Tooth Neuropathy X
- M1V (p.Met1Val), rs1602348517, ClinGen CA413499238, ClinVar RCV003129589, ClinVar RCV003581890, Pathogenic/Likely pathogenic, Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease X-linked dominant
- N2K (p.Asn2Lys), rs1602348530, ClinGen CA413499274, ClinVar RCV000789206, ClinVar RCV005231332, Likely pathogenic, not provided
- N2S (p.Asn2Ser), rs2519797509, ClinGen CA413499267, ClinVar RCV003050622, ClinVar RCV004720376, Uncertain significance, Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease X-linked dominant
- W3* (p.Trp3Ter), rs1555936989, ClinGen CA413499283, ClinVar RCV000654851, ClinVar RCV000789800, Pathogenic, in CMTX1
- W3C (p.Trp3Cys), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10066, Variant assessed as somatic; moderate impact., in CMTX1
- W3G (p.Trp3Gly), rs1602348537, ClinGen CA413499279, ClinVar RCV000789261, Ensembl rs1602348537, Uncertain significance, Charcot-Marie-Tooth disease
- W3R (p.Trp3Arg), rs1602348537, ClinGen CA413499277, ClinVar RCV000789227, ClinVar RCV002473134, Uncertain significance, not provided; Charcot-Marie-Tooth disease X-linked dominant 1
- W3S (p.Trp3Ser), rs1555936989, ClinGen CA413499286, ClinVar RCV000654850, ClinVar RCV000789228, Conflicting interpretations, Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X
- W3X, rs863224472, Pathogenic
- T4K (p.Thr4Lys), rs1602348548, ClinGen CA413499304, ClinVar RCV000789906, Ensembl rs1602348548, Uncertain significance, Charcot-Marie-Tooth disease
- G5C (p.Gly5Cys), NCI-TCGA Cosmic COSV6213, cosmic curated COSV62139, Variant assessed as somatic; moderate impact.
- G5S (p.Gly5Ser), rs1602348552, ClinGen CA413499312, ClinVar RCV000789877, Ensembl rs1602348552, Uncertain significance, Charcot-Marie-Tooth disease
- G5V (p.Gly5Val), rs1064793139, ClinGen CA16621491, ClinVar RCV000480735, ClinVar RCV000697574, REVEL 0.49, CADD 19.60, Conflicting interpretations, not provided; Charcot-Marie-Tooth Neuropathy X
- L6F (p.Leu6Phe), TOPMed rs2092541943, gnomAD rs2092541943, REVEL 0.55, CADD 12.40
- L6S (p.Leu6Ser), rs2092541936, ClinGen CA413499331, ClinVar RCV001207102, Ensembl rs2092541936, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- L6L (p.Leu6Leu), gnomAD X-71223723-T-C, CADD 7.17
- Y7* (p.Tyr7Ter), rs2092541958, ClinGen CA413499380, ClinVar RCV002288368, Likely pathogenic, in CMTX1
- Y7C (p.Tyr7Cys), rs1602348554, ClinGen CA413499374, ClinVar RCV000789289, Ensembl rs1602348554, Uncertain significance, Charcot-Marie-Tooth disease
- Y7H (p.Tyr7His), gnomAD X-71223726-T-C, REVEL 0.61, CADD 22.10
- Y7Y (p.Tyr7Tyr), rs2092541958, gnomAD X-71223728-C-T, CADD 8.97
- T8I (p.Thr8Ile), rs1602348559, ClinGen CA413499403, ClinVar RCV000789209, Ensembl rs1602348559, Uncertain significance, Charcot-Marie-Tooth disease
- T8P (p.Thr8Pro), rs1602348557, ClinGen CA413499386, ClinVar RCV000789856, Ensembl rs1602348557, Uncertain significance, Charcot-Marie-Tooth disease
- T8T (p.Thr8Thr), gnomAD X-71223731-C-A, CADD 6.94
- L9F (p.Leu9Phe), rs1602348563, ClinGen CA413499422, ClinVar RCV000789193, Ensembl rs1602348563, Uncertain significance, Charcot-Marie-Tooth disease
- L9S (p.Leu9Ser), rs1569214971, ClinGen CA413499414, ClinVar RCV000711354, ClinVar RCV001068645, Uncertain significance, Inborn genetic diseases; not provided; Charcot-Marie-Tooth Neuropathy X
- L9W (p.Leu9Trp), rs1569214971, ClinGen CA413499416, ClinVar RCV000789281, Ensembl rs1569214971, Uncertain significance, Charcot-Marie-Tooth disease
- L10P (p.Leu10Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L10L (p.Leu10Leu), rs183702021, gnomAD X-71223737-C-T, CADD 10.60
- S11G (p.Ser11Gly), rs1602348569, ClinGen CA413499447, ClinVar RCV000789269, Ensembl rs1602348569, Uncertain significance, Charcot-Marie-Tooth disease
- S11R (p.Ser11Arg), rs2147944838, ClinGen CA413499455, ClinVar RCV002452069, Uncertain significance, Inborn genetic diseases
- S11T (p.Ser11Thr), cosmic curated COSV62139
- S11S (p.Ser11Ser), rs2147944838, gnomAD X-71223740-T-C, CADD 9.30
- G12D (p.Gly12Asp), rs1569214985, ClinGen CA413499465, ClinVar RCV000685646, Ensembl rs1569214985, Pathogenic, Charcot-Marie-Tooth Neuropathy X
- G12S (p.Gly12Ser), rs1555936999, ClinGen CA413499462, ClinVar RCV000552022, ClinVar RCV000789811, Likely pathogenic, Charcot-Marie-Tooth Neuropathy X; not provided
- G12G (p.Gly12Gly), rs756086307, gnomAD X-71223743-C-T, CADD 8.34
- V13A (p.Val13Ala), gnomAD rs1220424626, Uncertain significance, in CMTX1
- V13G (p.Val13Gly), rs1220424626, ClinGen CA413499483, ClinVar RCV001319438, gnomAD rs1220424626, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- V13L (p.Val13Leu), rs104894820, ClinGen CA255251, ClinVar RCV000011184, UniProt VAR 002012, Pathogenic, in CMTX1
- V13M (p.Val13Met), rs104894820, ClinGen CA10445274, ClinVar RCV000789172, ClinVar RCV000808363, REVEL 0.94, CADD 26.20, Conflicting interpretations, Inborn genetic diseases; not provided; Charcot-Marie-Tooth disease X-linked domi
- N14I (p.Asn14Ile), rs1569214995, ClinGen CA413499502, ClinVar RCV000686872, Ensembl rs1569214995, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- N14K (p.Asn14Lys), rs1262031967, ClinGen CA413499512, ClinVar RCV001058722, ClinVar RCV001310077, Likely pathogenic, Charcot-Marie-Tooth disease X-linked dominant 1; Charcot-Marie-Tooth Neuropathy
- N14S (p.Asn14Ser), rs1569214995, ClinGen CA413499507, ClinVar RCV000789949, Ensembl rs1569214995, Uncertain significance, Charcot-Marie-Tooth disease
- N14N (p.Asn14Asn), rs1262031967, gnomAD X-71223749-C-T, CADD 9.04
- R15L (p.Arg15Leu), rs1602348605, ClinGen CA915951171, ClinVar RCV000789943, ClinVar RCV003447298, Uncertain significance, Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease; not provided
- R15P (p.Arg15Pro), rs863224974, ClinGen CA413499524, ClinVar RCV002289183, ClinVar RCV002473363, Likely pathogenic, not provided; Charcot-Marie-Tooth disease X-linked dominant 1
- R15Q (p.Arg15Gln), rs863224974, ClinGen CA279084, cosmic curated COSV10889, ClinVar RCV000234336, REVEL 0.82, CADD 26.00, Pathogenic, Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided
- R15W (p.Arg15Trp), rs116840815, ClinGen CA333982, ClinVar RCV000020174, ClinVar RCV000167902, Pathogenic, Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease; not provided
- R15R (p.Arg15Arg), rs2092542147, gnomAD X-71223752-G-A, CADD 11.00
- H16D (p.His16Asp), rs2147944895, ClinGen CA413499532, ClinVar RCV001814518, ClinVar RCV005225423, Pathogenic/Likely pathogenic, Peripheral neuropathy; not provided
- H16L (p.His16Leu), rs1602348610, ClinGen CA413499545, ClinVar RCV000789875, ClinVar RCV001353154, Pathogenic, Charcot-Marie-Tooth disease X-linked dominant 1
- H16P (p.His16Pro), rs1602348610, ClinGen CA413499537, ClinVar RCV000789173, ClinVar RCV006464241, Likely pathogenic, Charcot-Marie-Tooth Neuropathy X
- H16Q (p.His16Gln), rs1270518681, ClinGen CA413499547, ClinVar RCV000789873, TOPMed rs1270518681, Uncertain significance, Charcot-Marie-Tooth disease
- H16R (p.His16Arg), rs1602348610, ClinGen CA413499542, ClinVar RCV002260735, Ensembl rs1602348610, Likely pathogenic, not provided
- H16H (p.His16His), rs1270518681, gnomAD X-71223755-T-C, CADD 8.01
- S17C (p.Ser17Cys), rs1555937009, ClinGen CA413499562, ClinVar RCV000512762, Ensembl rs1555937009, Likely pathogenic, Charcot-Marie-Tooth disease
- S17Y (p.Ser17Tyr), rs1555937009, ClinGen CA413499560, ClinVar RCV000789194, Ensembl rs1555937009, Uncertain significance, Charcot-Marie-Tooth disease
- T18A (p.Thr18Ala), rs1555937012, ClinGen CA413500626, ClinVar RCV000506203, ClinVar RCV000796386, Uncertain significance, not specified; Charcot-Marie-Tooth Neuropathy X
- T18I (p.Thr18Ile), cosmic curated COSV62139
- T18S (p.Thr18Ser), rs1555937012, ClinGen CA413500633, ClinVar RCV002979199, ClinVar RCV005050678, Pathogenic/Likely pathogenic, Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease X-linked dominant
- T18T (p.Thr18Thr), gnomAD X-71223761-T-C, CADD 3.62
- A19D (p.Ala19Asp), rs2519797633, ClinGen CA413500655, ClinVar RCV003582855, REVEL 0.84, CADD 23.10, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- A19A (p.Ala19Ala), rs769450739, gnomAD X-71223764-C-T, CADD 12.80
- I20F (p.Ile20Phe), rs1555937019, ClinGen CA413500669, ClinVar RCV003129587, Pathogenic, Charcot-Marie-Tooth disease X-linked dominant 1
- I20N (p.Ile20Asn), rs1569215025, ClinGen CA413500674, ClinVar RCV000790298, ClinVar RCV003447306, Uncertain significance, Charcot-Marie-Tooth disease X-linked dominant 1; Charcot-Marie-Tooth disease
- I20S (p.Ile20Ser), rs1569215025, ClinGen CA413500679, ClinVar RCV000789174, Ensembl rs1569215025, Uncertain significance, Charcot-Marie-Tooth disease
- I20T (p.Ile20Thr), rs1569215025, ClinGen CA413500677, ClinVar RCV000705914, Ensembl rs1569215025, Pathogenic, Charcot-Marie-Tooth Neuropathy X
- I20V (p.Ile20Val), rs1555937019, ClinGen CA413500671, ClinVar RCV000654838, Ensembl rs1555937019, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- I20I (p.Ile20Ile), rs2092542240, gnomAD X-71223767-T-C, CADD 10.40
- G21D (p.Gly21Asp), rs1602348640, ClinGen CA413500689, ClinVar RCV000789175, Ensembl rs1602348640, Uncertain significance, Charcot-Marie-Tooth disease
- G21S (p.Gly21Ser), rs1602348633, ClinGen CA413500684, ClinVar RCV000790299, ClinVar RCV003447307, Uncertain significance, Charcot-Marie-Tooth disease X-linked dominant 1; Charcot-Marie-Tooth disease
- G21V (p.Gly21Val), rs1602348640, ClinGen CA413500693, ClinVar RCV000789294, Ensembl rs1602348640, Uncertain significance, Charcot-Marie-Tooth disease
- G21G (p.Gly21Gly), gnomAD X-71223770-C-T, CADD 6.88
- R22* (p.Arg22Ter), rs1555937020, ClinGen CA413500696, ClinVar RCV000516443, ClinVar RCV000763633, Pathogenic, in CMTX1
- R22G (p.Arg22Gly), rs1555937020, ClinGen CA413500694, ClinVar RCV000789932, Ensembl rs1555937020, Uncertain significance, Charcot-Marie-Tooth disease
- R22P (p.Arg22Pro), rs1060501002, ClinGen CA413500702, ClinVar RCV000789933, TOPMed rs1060501002, Uncertain significance, Charcot-Marie-Tooth disease
- R22Q (p.Arg22Gln), rs1060501002, ClinGen CA16616533, ClinVar RCV000475257, ClinVar RCV000517974, REVEL 0.87, CADD 25.90, Pathogenic/Likely pathogenic, not provided; Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X
- V23A (p.Val23Ala), rs1602348650, ClinGen CA413500724, ClinVar RCV000789834, ClinVar RCV001056787, Pathogenic, Charcot-Marie-Tooth Neuropathy X
- V23E (p.Val23Glu), rs1602348650, ClinGen CA413500723, ClinVar RCV001348443, Ensembl rs1602348650, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- V23V (p.Val23Val), rs780076535, gnomAD X-71223776-A-G, CADD 4.46
- W24C (p.Trp24Cys), rs1602348658, ClinGen CA413500761, ClinVar RCV001173557, ClinVar RCV002559664, Pathogenic/Likely pathogenic, Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X
- W24R (p.Trp24Arg), rs1602348654, ClinGen CA413500734, ClinVar RCV000789295, Ensembl rs1602348654, Uncertain significance, Charcot-Marie-Tooth disease
- L25F (p.Leu25Phe), rs1602348662, ClinGen CA413500774, ClinVar RCV000789266, ClinVar RCV001253613, Conflicting interpretations, Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease X-linked dominant 1
- L25P (p.Leu25Pro), rs1602348665, ClinGen CA413500781, ClinVar RCV000789912, Ensembl rs1602348665, Uncertain significance, Charcot-Marie-Tooth disease
- S26* (p.Ser26Ter), rs587777876, ClinGen CA413500798, ClinVar RCV000789270, ClinVar RCV003447217, Pathogenic, in CMTX1
- S26L (p.Ser26Leu), rs587777876, ClinGen CA270646, ClinVar RCV000143795, ClinVar RCV000437610, Pathogenic, in CMTX1
- S26W (p.Ser26Trp), rs587777876, ClinGen CA413500799, ClinVar RCV000535675, ClinVar RCV000789319, Pathogenic, Charcot-Marie-Tooth Neuropathy X
- S26S (p.Ser26Ser), rs749174507, gnomAD X-71223785-G-A, CADD 1.08
- V27A (p.Val27Ala), rs1602348686, ClinGen CA413500812, ClinVar RCV000789798, Ensembl rs1602348686, Uncertain significance, Charcot-Marie-Tooth disease
- V27D (p.Val27Asp), cosmic curated COSV62139
- V27F (p.Val27Phe), cosmic curated COSV10066
- V27V (p.Val27Val), rs1489844891, gnomAD X-71223788-C-T, CADD 9.65
- I28N (p.Ile28Asn), rs768834663, ClinGen CA337772, ClinVar RCV000198281, ClinVar RCV000756204, Pathogenic, in CMTX1
- I28T (p.Ile28Thr), rs768834663, ClinGen CA10584633, ClinVar RCV000235732, ClinVar RCV000789177, Conflicting interpretations, Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-Tooth disease X-li
- F29L (p.Phe29Leu), rs1602348703, ClinGen CA413500833, ClinVar RCV000789601, ClinVar RCV005092373, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- I30F (p.Ile30Phe), rs2519797700, ClinGen CA413500857, ClinVar RCV003129585, Pathogenic, Charcot-Marie-Tooth disease X-linked dominant 1
- I30M (p.Ile30Met), rs2519797709, ClinGen CA413500861, ClinVar RCV003129584, Pathogenic, Charcot-Marie-Tooth disease X-linked dominant 1
- I30N (p.Ile30Asn), rs104894817, ClinGen CA255242, ClinVar RCV000011181, UniProt VAR 002029, Pathogenic, Charcot-Marie-Tooth disease X-linked dominant 1
- I30T (p.Ile30Thr), rs104894817, ClinGen CA413500858, ClinVar RCV000789282, ClinVar RCV001061206, Pathogenic, Charcot-Marie-Tooth Neuropathy X
- I30L (p.Ile30Leu), gnomAD X-71223795-A-C, REVEL 0.82, CADD 23.80
- F31C (p.Phe31Cys), rs2147945057, ClinGen CA413500874, ClinVar RCV001989596, ClinVar RCV002370679, Uncertain significance, Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X
- F31L (p.Phe31Leu), rs2092542440, ClinGen CA413500869, ClinVar RCV001050682, Ensembl rs2092542440, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- R32G (p.Arg32Gly), rs1602348720, ClinGen CA413500880, ClinVar RCV000789874, Ensembl rs1602348720, Uncertain significance, Charcot-Marie-Tooth disease
- R32K (p.Arg32Lys), rs2519797719, ClinGen CA413500892, ClinVar RCV003129583, Pathogenic, Charcot-Marie-Tooth disease X-linked dominant 1
- R32R (p.Arg32Arg), gnomAD X-71223803-A-G, CADD 12.20
- I33N (p.Ile33Asn), rs1602348722, ClinGen CA413500920, ClinVar RCV000789897, Ensembl rs1602348722, Uncertain significance, Charcot-Marie-Tooth disease
- M34I (p.Met34Ile), rs1060501000, ClinGen CA16616704, ClinVar RCV000468413, UniProt VAR 029903, Likely pathogenic, Charcot-Marie-Tooth Neuropathy X
- M34K (p.Met34Lys), rs1060500998, ClinGen CA413500927, ClinVar RCV000789899, Ensembl rs1060500998, Uncertain significance, Charcot-Marie-Tooth disease
- M34T (p.Met34Thr), rs1060500998, ClinGen CA16616534, ClinVar RCV000467465, ClinVar RCV000789955, Pathogenic, GJB1-related disorder; Charcot-Marie-Tooth Neuropathy X
- M34V (p.Met34Val), rs1569215061, ClinGen CA413500925, ClinVar RCV000684965, ClinVar RCV000789244, Pathogenic, Charcot-Marie-Tooth Neuropathy X; not provided
- V35M (p.Val35Met), rs1602348735, ClinGen CA413500937, ClinVar RCV000789832, ClinVar RCV001069428, Conflicting interpretations, not provided; Charcot-Marie-Tooth Neuropathy X
- V35V (p.Val35Val), gnomAD X-71223812-G-A, CADD 10.40
- L36P (p.Leu36Pro), rs1602348737, ClinGen CA413500951, ClinVar RCV000789889, ClinVar RCV005409740, Conflicting interpretations, Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease X-linked dominant
- L36V (p.Leu36Val), rs2092542516, ClinGen CA413500946, ClinVar RCV001351639, ClinVar RCV001825975, Uncertain significance, Charcot-Marie-Tooth Neuropathy X; not provided
- L36L (p.Leu36Leu), rs149350998, gnomAD X-71223815-G-T, CADD 10.20
- V37E (p.Val37Glu), rs2519797766, ClinGen CA413500959, ClinVar RCV003741942, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- V37L (p.Val37Leu), rs1057518946, ClinGen CA413500957, ClinVar RCV001173558, ClinVar RCV006257328, REVEL 0.82, CADD 23.90, Likely pathogenic, Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease X-linked dominant 1
- V37M (p.Val37Met), rs1057518946, ClinGen CA413500955, ClinVar RCV000789218, Ensembl rs1057518946, Uncertain significance, Charcot-Marie-Tooth disease
- V38A (p.Val38Ala), rs863224612, ClinGen CA413500975, ClinVar RCV000789237, ClinVar RCV001856232, Likely pathogenic, Charcot-Marie-Tooth Neuropathy X
- V38G (p.Val38Gly), rs863224612, ClinGen CA338636, ClinVar RCV000199414, ClinVar RCV000235965, Likely pathogenic, in CMTX1
- V38M (p.Val38Met), rs879254012, ClinGen CA10584634, ClinVar RCV000235629, ClinVar RCV000789918, Pathogenic/Likely pathogenic, Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided
- A39G (p.Ala39Gly), rs786204095, ClinGen CA413500987, ClinVar RCV000789862, Ensembl rs786204095, Uncertain significance, Charcot-Marie-Tooth disease
- A39P (p.Ala39Pro), rs1602348769, ClinGen CA413500982, ClinVar RCV000789845, Ensembl rs1602348769, Uncertain significance, Charcot-Marie-Tooth disease
- A39T (p.Ala39Thr), rs1602348769, ClinGen CA413500977, ClinVar RCV003742104, REVEL 0.87, CADD 24.60, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- A39V (p.Ala39Val), rs786204095, ClinGen CA334139, ClinVar RCV000168011, ClinVar RCV000789271, REVEL 0.94, CADD 25.90, Pathogenic/Likely pathogenic, Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X; not provided
- A40S (p.Ala40Ser), rs1602348782, ClinGen CA413500990, ClinVar RCV000984885, Ensembl rs1602348782, Likely pathogenic, Charcot-Marie-Tooth disease X-linked dominant 1
- A40T (p.Ala40Thr), rs1602348782, ClinGen CA413500989, ClinVar RCV000789262, ClinVar RCV001227710, Conflicting interpretations, not provided; Charcot-Marie-Tooth Neuropathy X
- A40V (p.Ala40Val), rs1602348786, ClinGen CA413500994, ClinVar RCV000789265, ClinVar RCV001040086, Pathogenic, Charcot-Marie-Tooth Neuropathy X
- A40A (p.Ala40Ala), rs1481496306, gnomAD X-71223827-A-G, CADD 4.72
- E41* (p.Glu41Ter), cosmic curated COSV62139
- E41D (p.Glu41Asp), rs116840816, ClinGen CA341591, ClinVar RCV000020169, ClinVar RCV000789264, Uncertain significance, in CMTX1
- E41K (p.Glu41Lys), rs1602348796, ClinGen CA413500999, ClinVar RCV000789178, ClinVar RCV001038865, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- S42C (p.Ser42Cys), rs1602348801, ClinGen CA413501016, ClinVar RCV000789795, ClinVar RCV002249493, Likely pathogenic, Charcot-Marie-Tooth disease X-linked dominant 1
- S42G (p.Ser42Gly), rs1602348801, ClinGen CA413501014, ClinVar RCV002601901, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- S42S (p.Ser42Ser), rs1184846357, gnomAD X-71223833-T-C, CADD 4.68
- V43E (p.Val43Glu), rs1555937059, ClinGen CA413501030, ClinVar RCV000654835, Ensembl rs1555937059, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- V43L (p.Val43Leu), rs1602348804, ClinGen CA413501027, ClinVar RCV001209014, Ensembl rs1602348804, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- V43M (p.Val43Met), rs1602348804, ClinGen CA413501026, ClinVar RCV000789272, ClinVar RCV003336185, Conflicting interpretations, not provided; Charcot-Marie-Tooth disease X-linked dominant 1
- W44* (p.Trp44Ter), rs1555937063, ClinGen CA10581119, ClinVar RCV003742107, Ensembl rs1555937063, Pathogenic, in CMTX1
- W44C (p.Trp44Cys), rs879253935, ClinGen CA10584635, ClinVar RCV000235491, ClinVar RCV000789296, Likely pathogenic, Charcot-Marie-Tooth Neuropathy X; not provided
- W44L (p.Trp44Leu), rs1555937063, ClinGen CA413501047, ClinVar RCV000789179, Ensembl rs1555937063, Uncertain significance, Charcot-Marie-Tooth disease
- G45R (p.Gly45Arg), rs2519797847, ClinGen CA413501062, ClinVar RCV002857937, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- G45S (p.Gly45Ser), gnomAD X-71223840-G-A, REVEL 0.82, CADD 24.30
- G45D (p.Gly45Asp), gnomAD X-71223841-G-A, REVEL 0.86, CADD 24.40
- D46* (p.Asp46Ter), rs2519797837, ClinGen CA2697553165, ClinVar RCV003581444, Pathogenic
- D46E (p.Asp46Glu), rs1419095893, ClinGen CA413501086, ClinVar RCV001224257, gnomAD rs1419095893, REVEL 0.70, CADD 15.60, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- D46G (p.Asp46Gly), rs1602348820, ClinGen CA413501083, ClinVar RCV000789920, ClinVar RCV003517267, Likely pathogenic, Charcot-Marie-Tooth disease X-linked dominant 1
- D46N (p.Asp46Asn), rs2519797858, ClinGen CA413501073, ClinVar RCV003072880, ClinVar RCV003404070, Conflicting interpretations, GJB1-related disorder; Charcot-Marie-Tooth Neuropathy X
- D46V (p.Asp46Val), rs1602348820, ClinGen CA413501081, ClinVar RCV001960990, Ensembl rs1602348820, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- D46D (p.Asp46Asp), rs1419095893, gnomAD X-71223845-T-C, CADD 4.13
- E47D (p.Glu47Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E47G (p.Glu47Gly), rs1602348828, ClinGen CA413501096, ClinVar RCV000789197, Ensembl rs1602348828, Uncertain significance, Charcot-Marie-Tooth disease
- E47K (p.Glu47Lys), rs2092542839, ClinGen CA413501088, ClinVar RCV001172019, Ensembl rs2092542839, Uncertain significance, not provided
- E47V (p.Glu47Val), rs1602348828, ClinGen CA413501098, ClinVar RCV001056724, Ensembl rs1602348828, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- E47E (p.Glu47Glu), gnomAD X-71223848-G-A, CADD 8.91
- K48K (p.Lys48Lys), rs1429274437, gnomAD X-71223851-A-G, CADD 7.11
- S49P (p.Ser49Pro), rs116840817, ClinGen CA341595, ClinVar RCV000020170, ClinVar RCV000789951, Pathogenic, in CMTX1
- S49Y (p.Ser49Tyr), rs1602348838, ClinGen CA413501127, ClinVar RCV000789957, Ensembl rs1602348838, Uncertain significance, Charcot-Marie-Tooth disease
- S50A (p.Ser50Ala), rs913934445, ClinGen CA330997669, ClinVar RCV003105078, ClinVar RCV005419592, REVEL 0.43, CADD 19.70, Uncertain significance, Charcot-Marie-Tooth Neuropathy X; not specified
- S50C (p.Ser50Cys), rs2092542910, ClinGen CA413501143, ClinVar RCV001288927, ClinVar RCV001871724, Uncertain significance, Charcot-Marie-Tooth Neuropathy X; Inborn genetic diseases; not provided
- S50P (p.Ser50Pro), rs913934445, ClinGen CA413501135, ClinVar RCV000493545, ClinVar RCV000518090, Conflicting interpretations, not specified; not provided; Charcot-Marie-Tooth Neuropathy X
- F51L (p.Phe51Leu), rs2147945283, ClinGen CA413501166, ClinVar RCV001988871, Ensembl rs2147945283, Likely pathogenic, Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided
- F51S (p.Phe51Ser), rs1602348850, ClinGen CA413501163, ClinVar RCV001027526, Ensembl rs1602348850, Uncertain significance, not provided
- I52F (p.Ile52Phe), Ensembl rs945361547
- I52T (p.Ile52Thr), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10066, Variant assessed as somatic; moderate impact.
- I52I (p.Ile52Ile), rs2092542946, gnomAD X-71223863-C-T, CADD 8.61
- C53A (p.Cys53Ala), rs2519797920, ClinGen CA2580101352, ClinVar RCV003059216, Pathogenic, in CMTX1
- C53F (p.Cys53Phe), rs1602348864, ClinGen CA413501196, ClinVar RCV003741687, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- C53S (p.Cys53Ser), rs1602348863, ClinGen CA413501193, ClinVar RCV000789198, Ensembl rs1602348863, Uncertain significance, Charcot-Marie-Tooth disease
- C53Y (p.Cys53Tyr), rs1602348864, ClinGen CA413501194, ClinVar RCV000789297, Ensembl rs1602348864, Uncertain significance, Charcot-Marie-Tooth disease
- N54D (p.Asn54Asp), cosmic curated COSV62139
- N54H (p.Asn54His), rs2092542986, ClinGen CA413501199, ClinVar RCV001266338, Ensembl rs2092542986, Likely pathogenic, Inborn genetic diseases
- T55A (p.Thr55Ala), rs863224613, ClinGen CA339416, ClinVar RCV000200595, ClinVar RCV000789860, Pathogenic, in CMTX1
- T55I (p.Thr55Ile), rs104894824, ClinGen CA340973, ClinVar RCV000011191, ClinVar RCV000486043, Pathogenic, in CMTX1
- T55P (p.Thr55Pro), rs863224613, ClinGen CA413501213, ClinVar RCV000654843, Ensembl rs863224613, Uncertain significance, Charcot-Marie-Tooth Neuropathy X
- T55R (p.Thr55Arg), rs104894824, ClinGen CA413501219, ClinVar RCV000789253, Ensembl rs104894824, Uncertain significance, Charcot-Marie-Tooth disease
Public GJB1 analysis runs
- GJB1 analysis run — GJB1 (861 variants) — completed 2026-08-22