GJC2 (gap junction protein gamma 2) - Rat Genome Database

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Gene: GJC2 (gap junction protein gamma 2) Homo sapiens
Analyze
Symbol: GJC2
Name: gap junction protein gamma 2
RGD ID: 1346209
HGNC Page HGNC:17494
Description: Enables gap junction channel activity involved in cell communication by electrical coupling. Involved in cell communication by electrical coupling. Located in gap junction. Implicated in hereditary lymphedema IC; hereditary spastic paraplegia 44; hypomyelinating leukodystrophy 2; and lymphedema.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: connexin 47; connexin-46.6; connexin-47; connexin46.6; CX46.6; Cx47; gap junction alpha-12 protein; gap junction gamma-2 protein; gap junction protein, gamma 2, 47kDa; GJA12; HLD2; LMPH1C; LMPHM3; MGC105119; PMLDAR; SPG44
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381228,149,930 - 228,159,826 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1228,149,930 - 228,159,826 (+)EnsemblGRCh38hg38GRCh38
GRCh371228,337,631 - 228,347,527 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,404,176 - 226,414,150 (+)NCBINCBI36Build 36hg18NCBI36
Build 341224,644,287 - 224,654,260NCBI
Celera1201,527,795 - 201,537,768 (+)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1198,852,444 - 198,862,502 (+)NCBIHuRef
CHM1_11229,609,739 - 229,619,848 (+)NCBICHM1_1
T2T-CHM13v2.01227,338,927 - 227,348,822 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal auditory evoked potentials  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal motor evoked potentials  (IAGP)
Abnormal venous morphology  (IAGP)
Abnormality of somatosensory evoked potentials  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Angiosarcoma  (IAGP)
Ankle swelling  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Babinski sign  (IAGP)
Cellulitis  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral hypomyelination  (IAGP)
Childhood onset  (IAGP)
Choreoathetosis  (IAGP)
CNS hypomyelination  (IAGP)
Cognitive impairment  (IAGP)
Constipation  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Delayed gross motor development  (IAGP)
Demyelinating motor neuropathy  (IAGP)
Distal sensory impairment  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
Dystonia  (IAGP)
Epicanthus  (IAGP)
Erysipelas  (IAGP)
Facial palsy  (IAGP)
Focal aware seizure  (IAGP)
Focal impaired awareness seizure  (IAGP)
Gait disturbance  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Global developmental delay  (IAGP)
Head titubation  (IAGP)
Hydrocele testis  (IAGP)
Hyperkeratosis  (IAGP)
Hyperreflexia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intention tremor  (IAGP)
Juvenile onset  (IAGP)
Leukodystrophy  (IAGP)
Lichenification  (IAGP)
Lower limb spasticity  (IAGP)
Lymphedema  (IAGP)
Motor delay  (IAGP)
Myopia  (IAGP)
Neoplasm of the skin  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Parathyroid carcinoma  (IAGP)
Pedal edema  (IAGP)
Pes cavus  (IAGP)
Poor head control  (IAGP)
Poor speech  (IAGP)
Predominantly lower limb lymphedema  (IAGP)
Progressive spasticity  (IAGP)
Recurrent skin infections  (IAGP)
Rigidity  (IAGP)
Rotary nystagmus  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sensory axonal neuropathy  (IAGP)
Slow saccadic eye movements  (IAGP)
Somatic sensory dysfunction  (IAGP)
Spastic ataxia  (IAGP)
Spastic gait  (IAGP)
Spastic paraparesis  (IAGP)
Spastic paraplegia  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Sudanophilic leukodystrophy  (IAGP)
Toenail dysplasia  (IAGP)
Typified by incomplete penetrance  (IAGP)
Upper limb spasticity  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Urinary incontinence  (IAGP)
Varicose veins  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Bugiani M, etal., Neurology. 2006 Jul 25;67(2):273-9. Epub 2006 May 17.
2. Extensive dysregulations of oligodendrocytic and astrocytic connexins are associated with disease progression in an amyotrophic lateral sclerosis mouse model. Cui Y, etal., J Neuroinflammation. 2014 Mar 6;11:42. doi: 10.1186/1742-2094-11-42.
3. GJC2 missense mutations cause human lymphedema. Ferrell RE, etal., Am J Hum Genet. 2010 Jun 11;86(6):943-8. doi: 10.1016/j.ajhg.2010.04.010. Epub 2010 May 27.
4. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Henneke M, etal., Neurology. 2008 Mar 4;70(10):748-54. Epub 2007 Dec 19.
5. Disruption of oligodendrocyte gap junctions in experimental autoimmune encephalomyelitis. Markoullis K, etal., Glia. 2012 Jul;60(7):1053-66. doi: 10.1002/glia.22334. Epub 2012 Mar 27.
6. Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease. Meyer E, etal., Mol Genet Metab. 2011 Dec;104(4):637-43. doi: 10.1016/j.ymgme.2011.08.032. Epub 2011 Sep 8.
7. Adenoviral vector carrying glial cell-derived neurotrophic factor for direct gene therapy in comparison with human umbilical cord blood cell-mediated therapy of spinal cord injury in rat. Mukhamedshina YO, etal., Spinal Cord. 2016 May;54(5):347-59. doi: 10.1038/sc.2015.161. Epub 2015 Sep 29.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Orthmann-Murphy JL, etal., Brain. 2009 Feb;132(Pt 2):426-38. doi: 10.1093/brain/awn328. Epub 2008 Dec 4.
10. Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. Ostergaard P, etal., J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25.
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Nigrostriatal proteomics of cypermethrin-induced dopaminergic neurodegeneration: microglial activation-dependent and -independent regulations. Singh AK, etal., Toxicol Sci. 2011 Aug;122(2):526-38. doi: 10.1093/toxsci/kfr115. Epub 2011 May 10.
15. Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans. Tress O, etal., PLoS Genet. 2011 Jul;7(7):e1002146. doi: 10.1371/journal.pgen.1002146. Epub 2011 Jul 7.
16. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Uhlenberg B, etal., Am J Hum Genet. 2004 Aug;75(2):251-60. Epub 2004 Jun 10.
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:12805295   PMID:12843301   PMID:15174051   PMID:15489334   PMID:16710414   PMID:16969684   PMID:17031678   PMID:17344063   PMID:18521858   PMID:19423250  
PMID:20120347   PMID:20301682   PMID:21873635   PMID:22283455   PMID:22351697   PMID:22669416   PMID:23142375   PMID:23544880   PMID:23550541   PMID:23684670   PMID:24374284   PMID:24501781  
PMID:27057822   PMID:28298427   PMID:28712094   PMID:28724617   PMID:29276893   PMID:30541963   PMID:32694731   PMID:34994518   PMID:35276347   PMID:36446400   PMID:37189458  


Genomics

Comparative Map Data
GJC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381228,149,930 - 228,159,826 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1228,149,930 - 228,159,826 (+)EnsemblGRCh38hg38GRCh38
GRCh371228,337,631 - 228,347,527 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,404,176 - 226,414,150 (+)NCBINCBI36Build 36hg18NCBI36
Build 341224,644,287 - 224,654,260NCBI
Celera1201,527,795 - 201,537,768 (+)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1198,852,444 - 198,862,502 (+)NCBIHuRef
CHM1_11229,609,739 - 229,619,848 (+)NCBICHM1_1
T2T-CHM13v2.01227,338,927 - 227,348,822 (+)NCBIT2T-CHM13v2.0
Gjc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391159,066,390 - 59,074,039 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1159,066,394 - 59,074,039 (-)EnsemblGRCm39 Ensembl
GRCm381159,175,564 - 59,183,213 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1159,175,568 - 59,183,213 (-)EnsemblGRCm38mm10GRCm38
MGSCv371158,989,066 - 58,996,715 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361158,991,761 - 58,999,408 (-)NCBIMGSCv36mm8
Celera1163,940,632 - 63,948,320 (-)NCBICelera
Cytogenetic Map11B1.3NCBI
cM Map1137.05NCBI
Gjc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81044,462,203 - 44,470,924 (-)NCBIGRCr8
mRatBN7.21043,962,642 - 43,971,358 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1043,962,642 - 43,970,467 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1048,656,460 - 48,664,272 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01048,146,818 - 48,154,630 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01043,650,415 - 43,658,227 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01045,526,740 - 45,535,520 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1045,526,745 - 45,534,570 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01045,282,830 - 45,291,628 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41045,480,937 - 45,488,651 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1043,225,920 - 43,233,731 (-)NCBICelera
Cytogenetic Map10q22NCBI
Gjc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955581291,537 - 294,752 (-)NCBIChiLan1.0ChiLan1.0
GJC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2121,446,828 - 21,456,976 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1121,385,126 - 21,395,272 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01203,551,556 - 203,561,702 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11208,762,974 - 208,772,229 (+)NCBIpanpan1.1PanPan1.1panPan2
GJC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.114810,388 - 819,248 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl14810,386 - 820,420 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha14332,072 - 340,760 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.014531,302 - 539,994 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.114722,120 - 730,807 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.014502,958 - 511,636 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.014488,819 - 497,515 (-)NCBIUU_Cfam_GSD_1.0
Gjc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721387,727,408 - 87,735,276 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493686469,445 - 70,752 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493686467,608 - 71,543 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GJC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl251,258,207 - 51,267,962 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1251,257,623 - 51,267,969 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2253,844,201 - 53,854,379 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GJC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1251,568,664 - 1,579,279 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl251,569,427 - 1,570,752 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660551,449,049 - 1,451,620 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gjc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624937898,876 - 905,247 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GJC2
265 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020435.3(GJC2):c.-167A>G single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000023738]|Spastic paraplegia [RCV000633051]|not provided [RCV001781305] Chr1:228149860 [GRCh38]
Chr1:228337561 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_020435.4(GJC2):c.989del (p.Pro330fs) deletion Hypomyelinating leukodystrophy 2 [RCV000002154] Chr1:228158745 [GRCh38]
Chr1:228346446 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.914_947del (p.Pro305fs) deletion Hypomyelinating leukodystrophy 2 [RCV000002157]|not provided [RCV001781168] Chr1:228158659..228158692 [GRCh38]
Chr1:228346360..228346393 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.695_696insG (p.Tyr232Ter) insertion Hypomyelinating leukodystrophy 2 [RCV000002158] Chr1:228158453..228158454 [GRCh38]
Chr1:228346154..228346155 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.302G>A (p.Arg101His) single nucleotide variant not provided [RCV000522395] Chr1:228158060 [GRCh38]
Chr1:228345761 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.857T>C (p.Met286Thr) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000002152]|See cases [RCV002287318] Chr1:228158615 [GRCh38]
Chr1:228346316 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.268C>T (p.Pro90Ser) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000002153] Chr1:228158026 [GRCh38]
Chr1:228345727 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_020435.4(GJC2):c.718C>T (p.Arg240Ter) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000002155]|not provided [RCV001723533] Chr1:228158476 [GRCh38]
Chr1:228346177 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.814T>G (p.Tyr272Asp) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000002156] Chr1:228158572 [GRCh38]
Chr1:228346273 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.108C>G (p.Ile36Met) single nucleotide variant Hereditary spastic paraplegia 44 [RCV000002159] Chr1:228157866 [GRCh38]
Chr1:228345567 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.143C>T (p.Ser48Leu) single nucleotide variant Lymphatic malformation 3 [RCV000002160] Chr1:228157901 [GRCh38]
Chr1:228345602 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.778C>T (p.Arg260Cys) single nucleotide variant Lymphatic malformation 3 [RCV000002161] Chr1:228158536 [GRCh38]
Chr1:228346237 [GRCh37]
Chr1:1q42.13		 pathogenic
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13		 pathogenic
NM_020435.4(GJC2):c.787G>A (p.Glu263Lys) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000054496] Chr1:228158545 [GRCh38]
Chr1:228346246 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.1241G>T (p.Arg414Leu) single nucleotide variant Spastic paraplegia [RCV001312683] Chr1:228158999 [GRCh38]
Chr1:228346700 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.550G>A (p.Ala184Thr) single nucleotide variant Inborn genetic diseases [RCV002537958]|Spastic paraplegia [RCV003588734]|not provided [RCV001810563]|not specified [RCV003994251] Chr1:228158308 [GRCh38]
Chr1:228346009 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) single nucleotide variant Hereditary spastic paraplegia [RCV001848882]|Hypomyelinating leukodystrophy 2 [RCV000763840]|Hypomyelinating leukodystrophy 2 [RCV004691246]|Inborn genetic diseases [RCV002528231]|Spastic paraplegia [RCV000633030]|not provided [RCV000513690]|not specified [RCV003323580] Chr1:228158992 [GRCh38]
Chr1:228346693 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.78del (p.Trp27fs) deletion Hypomyelinating leukodystrophy 2 [RCV000256421] Chr1:228157836 [GRCh38]
Chr1:228345537 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.3(GJC2):c.-170A>G single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000128464]|Spastic paraplegia [RCV001849914] Chr1:228149857 [GRCh38]
Chr1:228337558 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4 copy number gain See cases [RCV000134940] Chr1:227613596..229249335 [GRCh38]
Chr1:227801297..229385082 [GRCh37]
Chr1:225867920..227451705 [NCBI36]
Chr1:1q42.13		 likely pathogenic|uncertain significance
GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1 copy number loss See cases [RCV000135796] Chr1:226185124..232872488 [GRCh38]
Chr1:226372825..233008234 [GRCh37]
Chr1:224439448..231074857 [NCBI36]
Chr1:1q42.12-42.2		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 copy number loss See cases [RCV000136636] Chr1:223347693..228556332 [GRCh38]
Chr1:223521035..228744033 [GRCh37]
Chr1:221587658..226810656 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 copy number loss See cases [RCV000143223] Chr1:225382172..230418801 [GRCh38]
Chr1:225569874..230554547 [GRCh37]
Chr1:223636497..228621170 [NCBI36]
Chr1:1q42.12-42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
GRCh38/hg38 1q42.13(chr1:228148416-228372055)x1 copy number loss Breast ductal adenocarcinoma [RCV000207146] Chr1:228148416..228372055 [GRCh38]
Chr1:228336115..228559754 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.17G>A (p.Trp6Ter) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV004691112]|not provided [RCV000224295] Chr1:228157775 [GRCh38]
Chr1:228345476 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_020435.4(GJC2):c.947C>T (p.Pro316Leu) single nucleotide variant Hereditary spastic paraplegia [RCV001847952]|Spastic paraplegia [RCV001086089]|not provided [RCV000224481] Chr1:228158705 [GRCh38]
Chr1:228346406 [GRCh37]
Chr1:1q42.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020435.4(GJC2):c.108C>T (p.Ile36=) single nucleotide variant Hereditary spastic paraplegia [RCV001847953]|Hypomyelinating leukodystrophy 2 [RCV002500753]|Spastic paraplegia [RCV001086772]|not provided [RCV000224514]|not specified [RCV000615150] Chr1:228157866 [GRCh38]
Chr1:228345567 [GRCh37]
Chr1:1q42.13		 benign|likely benign
NM_020435.4(GJC2):c.594C>T (p.His198=) single nucleotide variant Hereditary spastic paraplegia [RCV001848002]|Spastic paraplegia [RCV000231958]|not specified [RCV000243151] Chr1:228158352 [GRCh38]
Chr1:228346053 [GRCh37]
Chr1:1q42.13		 benign
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile) single nucleotide variant GJC2-related disorder [RCV003939882]|Hereditary spastic paraplegia [RCV001848000]|Spastic paraplegia [RCV001084409]|not provided [RCV000436644] Chr1:228158951 [GRCh38]
Chr1:228346652 [GRCh37]
Chr1:1q42.13		 likely benign|conflicting interpretations of pathogenicity
NM_020435.4(GJC2):c.454GAG[8] (p.Glu158dup) microsatellite Hereditary spastic paraplegia [RCV001848001]|Spastic paraplegia [RCV000229105] Chr1:228158211..228158212 [GRCh38]
Chr1:228345912..228345913 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1 copy number loss See cases [RCV000240001] Chr1:226871745..229906954 [GRCh37]
Chr1:1q42.12-42.13		 uncertain significance
NM_020435.4(GJC2):c.147C>T (p.Asp49=) single nucleotide variant Spastic paraplegia [RCV000556865]|not specified [RCV000250957] Chr1:228157905 [GRCh38]
Chr1:228345606 [GRCh37]
Chr1:1q42.13		 benign|likely benign
NM_020435.4(GJC2):c.966G>C (p.Ala322=) single nucleotide variant Hereditary spastic paraplegia [RCV001848037]|Spastic paraplegia [RCV001516747]|not specified [RCV000247903] Chr1:228158724 [GRCh38]
Chr1:228346425 [GRCh37]
Chr1:1q42.13		 benign
NM_020435.4(GJC2):c.970_971dup (p.Ala325fs) duplication Abnormality of the nervous system [RCV001814162]|Hypomyelinating leukodystrophy 2 [RCV002250639]|not provided [RCV000489273] Chr1:228158727..228158728 [GRCh38]
Chr1:228346428..228346429 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_020435.4(GJC2):c.679T>A (p.Phe227Ile) single nucleotide variant Inborn genetic diseases [RCV000624897] Chr1:228158437 [GRCh38]
Chr1:228346138 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
NM_020435.4(GJC2):c.-19-3C>A single nucleotide variant not provided [RCV000599076] Chr1:228157737 [GRCh38]
Chr1:228345438 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.83T>C (p.Leu28Pro) single nucleotide variant Inborn genetic diseases [RCV000623747]|not provided [RCV002263835] Chr1:228157841 [GRCh38]
Chr1:228345542 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.528G>A (p.Glu176=) single nucleotide variant Spastic paraplegia [RCV000535321] Chr1:228158286 [GRCh38]
Chr1:228345987 [GRCh37]
Chr1:1q42.13		 benign
NM_020435.4(GJC2):c.739_740delinsTC (p.Arg247Ser) indel not provided [RCV000413087] Chr1:228158497..228158498 [GRCh38]
Chr1:228346198..228346199 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_020435.4(GJC2):c.417C>A (p.Ala139=) single nucleotide variant Spastic paraplegia [RCV001861574]|not provided [RCV003418124]|not specified [RCV000441940] Chr1:228158175 [GRCh38]
Chr1:228345876 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_020435.4(GJC2):c.791A>G (p.Lys264Arg) single nucleotide variant not provided [RCV000422922] Chr1:228158549 [GRCh38]
Chr1:228346250 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.1123G>A (p.Val375Ile) single nucleotide variant Spastic paraplegia [RCV002522638]|not provided [RCV000429203] Chr1:228158881 [GRCh38]
Chr1:228346582 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.740G>C (p.Arg247Pro) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV004691230]|Spastic paraplegia [RCV003766427]|not provided [RCV000440284] Chr1:228158498 [GRCh38]
Chr1:228346199 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
NM_020435.4(GJC2):c.739C>T (p.Arg247Cys) single nucleotide variant Spastic paraplegia [RCV001851074]|not provided [RCV000430054] Chr1:228158497 [GRCh38]
Chr1:228346198 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.-14G>C single nucleotide variant not specified [RCV000454827] Chr1:228157745 [GRCh38]
Chr1:228345446 [GRCh37]
Chr1:1q42.13		 benign
NM_020435.4(GJC2):c.310del (p.Arg104fs) deletion Hypomyelinating leukodystrophy 2 [RCV004698342]|not provided [RCV000483649] Chr1:228158066 [GRCh38]
Chr1:228345767 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_020435.4(GJC2):c.-6G>C single nucleotide variant not provided [RCV001653795]|not specified [RCV000455508] Chr1:228157753 [GRCh38]
Chr1:228345454 [GRCh37]
Chr1:1q42.13		 benign
NM_020435.4(GJC2):c.362_398del (p.Arg121fs) deletion not provided [RCV000484973] Chr1:228158119..228158155 [GRCh38]
Chr1:228345820..228345856 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.433G>A (p.Glu145Lys) single nucleotide variant not provided [RCV000486395] Chr1:228158191 [GRCh38]
Chr1:228345892 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.575del (p.Pro192fs) deletion Hypomyelinating leukodystrophy 2 [RCV004691239]|not provided [RCV000486680] Chr1:228158330 [GRCh38]
Chr1:228346031 [GRCh37]
Chr1:1q42.13		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_020435.4(GJC2):c.1175C>G (p.Ser392Cys) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000504277] Chr1:228158933 [GRCh38]
Chr1:228346634 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.1254_1258delinsCG (p.Lys418_Arg420delinsAsnGly) indel Hereditary spastic paraplegia 44 [RCV000509408] Chr1:228159012..228159016 [GRCh38]
Chr1:228346713..228346717 [GRCh37]
Chr1:1q42.13		 not provided
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg) single nucleotide variant GJC2-related disorder [RCV003942608]|Spastic paraplegia [RCV001089177]|not provided [RCV000493519] Chr1:228158333 [GRCh38]
Chr1:228346034 [GRCh37]
Chr1:1q42.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_020435.4(GJC2):c.141C>G (p.Tyr47Ter) single nucleotide variant Spastic paraplegia [RCV000633039] Chr1:228157899 [GRCh38]
Chr1:228345600 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.970G>A (p.Ala324Thr) single nucleotide variant not provided [RCV000514454] Chr1:228158728 [GRCh38]
Chr1:228346429 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.845A>G (p.Asn282Ser) single nucleotide variant Spastic paraplegia [RCV000633033] Chr1:228158603 [GRCh38]
Chr1:228346304 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.672G>T (p.Glu224Asp) single nucleotide variant Inborn genetic diseases [RCV003242390] Chr1:228158430 [GRCh38]
Chr1:228346131 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1102G>A (p.Asp368Asn) single nucleotide variant Spastic paraplegia [RCV000633020] Chr1:228158860 [GRCh38]
Chr1:228346561 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.80G>A (p.Trp27Ter) single nucleotide variant Inborn genetic diseases [RCV000622713] Chr1:228157838 [GRCh38]
Chr1:228345539 [GRCh37]
Chr1:1q42.13		 pathogenic
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.13(chr1:227696109-229152386)x3 copy number gain not provided [RCV000684706] Chr1:227696109..229152386 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.448C>G (p.Leu150Val) single nucleotide variant Spastic paraplegia [RCV000702728] Chr1:228158206 [GRCh38]
Chr1:228345907 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1082G>T (p.Gly361Val) single nucleotide variant Inborn genetic diseases [RCV004629297]|Spastic paraplegia [RCV000689259] Chr1:228158840 [GRCh38]
Chr1:228346541 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.85_86dup (p.Val30fs) duplication Spastic paraplegia [RCV000692464] Chr1:228157841..228157842 [GRCh38]
Chr1:228345542..228345543 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.13(chr1:228260287-228617063)x1 copy number loss not provided [RCV000736887] Chr1:228260287..228617063 [GRCh37]
Chr1:1q42.13		 benign
GRCh37/hg19 1q42.13(chr1:228336130-228402121)x3 copy number gain not provided [RCV000736888] Chr1:228336130..228402121 [GRCh37]
Chr1:1q42.13		 benign
GRCh37/hg19 1q42.13(chr1:228336130-228404818)x3 copy number gain not provided [RCV000736889] Chr1:228336130..228404818 [GRCh37]
Chr1:1q42.13		 benign
NM_020435.4(GJC2):c.-20G>C single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV004577340] Chr1:228150007 [GRCh38]
Chr1:228337708 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1030C>T (p.Arg344Trp) single nucleotide variant not provided [RCV000994275] Chr1:228158788 [GRCh38]
Chr1:228346489 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2		 pathogenic
NM_020435.4(GJC2):c.768C>G (p.Cys256Trp) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000984491] Chr1:228158526 [GRCh38]
Chr1:228346227 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.13(chr1:228297613-228703236) copy number gain Aortic valve disease 1 [RCV000770940] Chr1:228297613..228703236 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.599G>A (p.Gly200Glu) single nucleotide variant Spastic paraplegia [RCV000806599] Chr1:228158357 [GRCh38]
Chr1:228346058 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.556G>T (p.Gly186Cys) single nucleotide variant Hereditary spastic paraplegia [RCV001849133]|Inborn genetic diseases [RCV002538896]|Spastic paraplegia [RCV000861006]|not provided [RCV002261233] Chr1:228158314 [GRCh38]
Chr1:228346015 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_020435.4(GJC2):c.216G>T (p.Ala72=) single nucleotide variant Spastic paraplegia [RCV000865657] Chr1:228157974 [GRCh38]
Chr1:228345675 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.817G>C (p.Val273Leu) single nucleotide variant Spastic paraplegia [RCV000820923] Chr1:228158575 [GRCh38]
Chr1:228346276 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.697C>G (p.Leu233Val) single nucleotide variant Spastic paraplegia [RCV000805051] Chr1:228158455 [GRCh38]
Chr1:228346156 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.466_467delinsAT (p.Glu156Met) indel Spastic paraplegia [RCV000798708] Chr1:228158224..228158225 [GRCh38]
Chr1:228345925..228345926 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.331C>T (p.Arg111Cys) single nucleotide variant Spastic paraplegia [RCV000800618] Chr1:228158089 [GRCh38]
Chr1:228345790 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs) deletion Hereditary spastic paraplegia 44 [RCV001335054]|Hypomyelinating leukodystrophy 2 [RCV000986563]|Spastic paraplegia [RCV000813174] Chr1:228158883..228158893 [GRCh38]
Chr1:228346584..228346594 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
GRCh37/hg19 1q42.13(chr1:228235107-228983659)x3 copy number gain not provided [RCV000848102] Chr1:228235107..228983659 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.591dup (p.His198fs) duplication Pelizaeus-Merzbacher disease [RCV000790418]|Spastic paraplegia [RCV002536883] Chr1:228158347..228158348 [GRCh38]
Chr1:228346048..228346049 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_020435.4(GJC2):c.107del (p.Ile36fs) deletion Dystonic disorder [RCV001003945]|Hypomyelinating leukodystrophy 2 [RCV001824156]|Intellectual disability [RCV000850195]|Lymphatic malformation 3 [RCV003989597] Chr1:228157865 [GRCh38]
Chr1:228345566 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic|uncertain significance
NM_020435.4(GJC2):c.87G>A (p.Thr29=) single nucleotide variant Spastic paraplegia [RCV000797574] Chr1:228157845 [GRCh38]
Chr1:228345546 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.595G>A (p.Asp199Asn) single nucleotide variant Spastic paraplegia [RCV000814129] Chr1:228158353 [GRCh38]
Chr1:228346054 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_020435.4(GJC2):c.217C>A (p.Pro73Thr) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000986561]|Spastic paraplegia [RCV002549670] Chr1:228157975 [GRCh38]
Chr1:228345676 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
NM_020435.4(GJC2):c.193_195del (p.Asn65del) deletion Hypomyelinating leukodystrophy 2 [RCV001263460]|not specified [RCV000785005] Chr1:228157949..228157951 [GRCh38]
Chr1:228345650..228345652 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
NM_020435.4(GJC2):c.812T>G (p.Met271Arg) single nucleotide variant not provided [RCV003314971] Chr1:228158570 [GRCh38]
Chr1:228346271 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.740G>A (p.Arg247His) single nucleotide variant Spastic paraplegia [RCV000808875] Chr1:228158498 [GRCh38]
Chr1:228346199 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NM_020435.4(GJC2):c.-20+68C>T single nucleotide variant not provided [RCV001571643] Chr1:228150075 [GRCh38]
Chr1:228337776 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.1150C>T (p.Pro384Ser) single nucleotide variant Inborn genetic diseases [RCV002561879]|Spastic paraplegia [RCV001215968]|not provided [RCV003163659] Chr1:228158908 [GRCh38]
Chr1:228346609 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1293G>C (p.Arg431Ser) single nucleotide variant Spastic paraplegia [RCV001239434] Chr1:228159051 [GRCh38]
Chr1:228346752 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.733T>A (p.Cys245Ser) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV001249464] Chr1:228158491 [GRCh38]
Chr1:228346192 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
NM_020435.4(GJC2):c.476C>T (p.Thr159Met) single nucleotide variant Spastic paraplegia [RCV001207201] Chr1:228158234 [GRCh38]
Chr1:228345935 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.647A>G (p.Gln216Arg) single nucleotide variant not provided [RCV003233442] Chr1:228158405 [GRCh38]
Chr1:228346106 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1027G>T (p.Ala343Ser) single nucleotide variant Spastic paraplegia [RCV002573222]|not provided [RCV001573303] Chr1:228158785 [GRCh38]
Chr1:228346486 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_020435.4(GJC2):c.445G>A (p.Gly149Ser) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000986562]|Spastic paraplegia [RCV000861248] Chr1:228158203 [GRCh38]
Chr1:228345904 [GRCh37]
Chr1:1q42.13		 benign|uncertain significance
NM_020435.4(GJC2):c.1145G>A (p.Arg382Gln) single nucleotide variant Spastic paraplegia [RCV001208698] Chr1:228158903 [GRCh38]
Chr1:228346604 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1155del (p.Arg386fs) deletion Hypomyelinating leukodystrophy 2 [RCV000986564] Chr1:228158908 [GRCh38]
Chr1:228346609 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.-10G>C single nucleotide variant not provided [RCV001530816] Chr1:228157749 [GRCh38]
Chr1:228345450 [GRCh37]
Chr1:1q42.13		 benign
NM_020435.4(GJC2):c.*93C>T single nucleotide variant not provided [RCV001649294] Chr1:228159171 [GRCh38]
Chr1:228346872 [GRCh37]
Chr1:1q42.13		 benign
NM_020435.4(GJC2):c.23_24delinsAA (p.Phe8Ter) indel not provided [RCV001008736] Chr1:228157781..228157782 [GRCh38]
Chr1:228345482..228345483 [GRCh37]
Chr1:1q42.13		 pathogenic
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
NM_020435.4(GJC2):c.*5G>T single nucleotide variant Hereditary spastic paraplegia [RCV001847311]|not provided [RCV001608725] Chr1:228159083 [GRCh38]
Chr1:228346784 [GRCh37]
Chr1:1q42.13		 benign|likely benign
NM_020435.4(GJC2):c.883C>T (p.Gln295Ter) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV001090093] Chr1:228158641 [GRCh38]
Chr1:228346342 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
NM_020435.4(GJC2):c.709T>G (p.Phe237Val) single nucleotide variant Intellectual disability [RCV001252004] Chr1:228158467 [GRCh38]
Chr1:228346168 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.148G>T (p.Glu50Ter) single nucleotide variant not provided [RCV001093211] Chr1:228157906 [GRCh38]
Chr1:228345607 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu) single nucleotide variant Lymphatic malformation 3 [RCV001528127]|Spastic paraplegia [RCV001476328]|not provided [RCV001093212] Chr1:228158957 [GRCh38]
Chr1:228346658 [GRCh37]
Chr1:1q42.13		 pathogenic|likely benign|uncertain significance
NM_020435.4(GJC2):c.979T>C (p.Leu327=) single nucleotide variant not provided [RCV001813124] Chr1:228158737 [GRCh38]
Chr1:228346438 [GRCh37]
Chr1:1q42.13		 likely benign
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del) microsatellite GJC2-related disorder [RCV003973020]|Spastic paraplegia [RCV001047776]|not provided [RCV001811598] Chr1:228158212..228158214 [GRCh38]
Chr1:228345913..228345915 [GRCh37]
Chr1:1q42.13		 benign|likely benign|uncertain significance
NM_020435.4(GJC2):c.*157G>A single nucleotide variant Hereditary spastic paraplegia [RCV001847317]|not provided [RCV001667996] Chr1:228159235 [GRCh38]
Chr1:228346936 [GRCh37]
Chr1:1q42.13		 benign|uncertain significance
NM_020435.4(GJC2):c.219_220del (p.Leu74fs) deletion Hypomyelinating leukodystrophy 2 [RCV001647229] Chr1:228157975..228157976 [GRCh38]
Chr1:228345676..228345677 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.254T>C (p.Val85Ala) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV001647230] Chr1:228158012 [GRCh38]
Chr1:228345713 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.302G>T (p.Arg101Leu) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV002298930]|Spastic ataxia [RCV001647154]|Spastic paraplegia [RCV002546241] Chr1:228158060 [GRCh38]
Chr1:228345761 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
NM_020435.4(GJC2):c.1240C>G (p.Arg414Gly) single nucleotide variant Inborn genetic diseases [RCV002554410]|Spastic paraplegia [RCV001058663] Chr1:228158998 [GRCh38]
Chr1:228346699 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del) deletion Hypomyelinating leukodystrophy 2 [RCV001535700]|Spastic paraplegia [RCV001213825] Chr1:228158178..228158204 [GRCh38]
Chr1:228345879..228345905 [GRCh37]
Chr1:1q42.13		 uncertain significance|not provided
NM_020435.4(GJC2):c.1222C>T (p.Arg408Trp) single nucleotide variant Spastic paraplegia [RCV001047775] Chr1:228158980 [GRCh38]
Chr1:228346681 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.364C>G (p.Arg122Gly) single nucleotide variant Spastic paraplegia [RCV001207717] Chr1:228158122 [GRCh38]
Chr1:228345823 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.907_923del (p.Gly303fs) deletion Hypomyelinating leukodystrophy 2 [RCV001200941] Chr1:228158661..228158677 [GRCh38]
Chr1:228346362..228346378 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.550_566del (p.Ala184fs) deletion Hereditary spastic paraplegia 44 [RCV001196363] Chr1:228158304..228158320 [GRCh38]
Chr1:228346005..228346021 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.118G>C (p.Ala40Pro) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV001249465] Chr1:228157876 [GRCh38]
Chr1:228345577 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
NM_020435.4(GJC2):c.62C>T (p.Thr21Ile) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV001261524] Chr1:228157820 [GRCh38]
Chr1:228345521 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.575dup (p.Thr195fs) duplication Hypomyelinating leukodystrophy 2 [RCV001261412] Chr1:228158329..228158330 [GRCh38]
Chr1:228346030..228346031 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.1096dup (p.Asp366fs) duplication Hypomyelinating leukodystrophy 2 [RCV001260245] Chr1:228158850..228158851 [GRCh38]
Chr1:228346551..228346552 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.49dup (p.His17fs) duplication Hypomyelinating leukodystrophy 2 [RCV001263436] Chr1:228157805..228157806 [GRCh38]
Chr1:228345506..228345507 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.907_923dup (p.Pro309fs) duplication Hypomyelinating leukodystrophy 2 [RCV004691702] Chr1:228158660..228158661 [GRCh38]
Chr1:228346361..228346362 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.571_572insG (p.Thr191fs) insertion Hypomyelinating leukodystrophy 2 [RCV001260243] Chr1:228158329..228158330 [GRCh38]
Chr1:228346030..228346031 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1093G>A (p.Gly365Arg) single nucleotide variant Spastic paraplegia [RCV001350767] Chr1:228158851 [GRCh38]
Chr1:228346552 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.893_942del (p.Val298fs) deletion Hypomyelinating leukodystrophy 2 [RCV004691700] Chr1:228158646..228158695 [GRCh38]
Chr1:228346347..228346396 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.1254_1256del (p.Lys418_Pro419delinsAsn) deletion Inborn genetic diseases [RCV002539470]|Spastic paraplegia [RCV001301448] Chr1:228159012..228159014 [GRCh38]
Chr1:228346713..228346715 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1084G>A (p.Ala362Thr) single nucleotide variant Spastic paraplegia [RCV002069535]|not provided [RCV001810641] Chr1:228158842 [GRCh38]
Chr1:228346543 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_020435.4(GJC2):c.915G>A (p.Pro305=) single nucleotide variant Spastic paraplegia [RCV001313721] Chr1:228158673 [GRCh38]
Chr1:228346374 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.519C>T (p.Gly173=) single nucleotide variant Spastic paraplegia [RCV001369954] Chr1:228158277 [GRCh38]
Chr1:228345978 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_020435.4(GJC2):c.1058T>C (p.Leu353Pro) single nucleotide variant Spastic paraplegia [RCV001349596] Chr1:228158816 [GRCh38]
Chr1:228346517 [GRCh37]
Chr1:1q42.13		 uncertain significance
NC_000001.10:g.(?_228345440)_(228363234_?)dup duplication Spastic paraplegia [RCV001314891] Chr1:228345440..228363234 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1258A>G (p.Arg420Gly) single nucleotide variant Inborn genetic diseases [RCV002543712]|Spastic paraplegia [RCV001317062] Chr1:228159016 [GRCh38]
Chr1:228346717 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1208T>C (p.Val403Ala) single nucleotide variant Inborn genetic diseases [RCV004629564]|Spastic paraplegia [RCV001321080] Chr1:228158966 [GRCh38]
Chr1:228346667 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1066C>A (p.Gln356Lys) single nucleotide variant Spastic paraplegia [RCV001299589] Chr1:228158824 [GRCh38]
Chr1:228346525 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.810T>G (p.Val270=) single nucleotide variant Spastic paraplegia [RCV001503084] Chr1:228158568 [GRCh38]
Chr1:228346269 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.1057C>T (p.Leu353=) single nucleotide variant Spastic paraplegia [RCV001456422] Chr1:228158815 [GRCh38]
Chr1:228346516 [GRCh37]
Chr1:1q42.13		 likely benign
NC_000001.11:g.228149556G>C single nucleotide variant not provided [RCV001590873] Chr1:228149556 [GRCh38]
Chr1:228337257 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.993C>G (p.Pro331=) single nucleotide variant GJC2-related disorder [RCV003938806]|Spastic paraplegia [RCV001451520] Chr1:228158751 [GRCh38]
Chr1:228346452 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.285G>A (p.Leu95=) single nucleotide variant GJC2-related disorder [RCV003908827]|Hereditary spastic paraplegia [RCV001847290]|Spastic paraplegia [RCV001514768] Chr1:228158043 [GRCh38]
Chr1:228345744 [GRCh37]
Chr1:1q42.13		 benign|likely benign|uncertain significance
NM_020435.4(GJC2):c.486C>T (p.Ala162=) single nucleotide variant Spastic paraplegia [RCV001478076] Chr1:228158244 [GRCh38]
Chr1:228345945 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.42G>A (p.Glu14=) single nucleotide variant Spastic paraplegia [RCV001437360] Chr1:228157800 [GRCh38]
Chr1:228345501 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.742C>T (p.Gln248Ter) single nucleotide variant not provided [RCV002247161] Chr1:228158500 [GRCh38]
Chr1:228346201 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.1228G>A (p.Gly410Ser) single nucleotide variant Inborn genetic diseases [RCV002538678]|Spastic paraplegia [RCV002032686]|not provided [RCV001726787] Chr1:228158986 [GRCh38]
Chr1:228346687 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.776C>T (p.Ser259Leu) single nucleotide variant not provided [RCV001762778] Chr1:228158534 [GRCh38]
Chr1:228346235 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.-19-193C>G single nucleotide variant not provided [RCV001787603] Chr1:228157547 [GRCh38]
Chr1:228345248 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.388C>G (p.Pro130Ala) single nucleotide variant not provided [RCV001773840] Chr1:228158146 [GRCh38]
Chr1:228345847 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.13(chr1:227782268-229506509)x1 copy number loss not provided [RCV001795846] Chr1:227782268..229506509 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.259A>C (p.Ile87Leu) single nucleotide variant not provided [RCV001770817] Chr1:228158017 [GRCh38]
Chr1:228345718 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.310C>T (p.Arg104Cys) single nucleotide variant not provided [RCV001770842] Chr1:228158068 [GRCh38]
Chr1:228345769 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.220C>G (p.Leu74Val) single nucleotide variant not provided [RCV001762768] Chr1:228157978 [GRCh38]
Chr1:228345679 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.760G>A (p.Val254Met) single nucleotide variant Abnormality of the nervous system [RCV001814360]|Hypomyelinating leukodystrophy 2 [RCV001849194] Chr1:228158518 [GRCh38]
Chr1:228346219 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_020435.4(GJC2):c.414C>T (p.Pro138=) single nucleotide variant not provided [RCV001816076] Chr1:228158172 [GRCh38]
Chr1:228345873 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.1137G>A (p.Ala379=) single nucleotide variant Spastic paraplegia [RCV001926642] Chr1:228158895 [GRCh38]
Chr1:228346596 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.11T>G (p.Met4Arg) single nucleotide variant Spastic paraplegia [RCV002025920] Chr1:228157769 [GRCh38]
Chr1:228345470 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.102C>A (p.Phe34Leu) single nucleotide variant Spastic paraplegia [RCV002041861] Chr1:228157860 [GRCh38]
Chr1:228345561 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.434A>T (p.Glu145Val) single nucleotide variant Spastic paraplegia [RCV002041106] Chr1:228158192 [GRCh38]
Chr1:228345893 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1090G>A (p.Ala364Thr) single nucleotide variant Hereditary spastic paraplegia [RCV001848447]|Spastic paraplegia [RCV002543402] Chr1:228158848 [GRCh38]
Chr1:228346549 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.1191T>C (p.Ala397=) single nucleotide variant Hereditary spastic paraplegia [RCV001848448] Chr1:228158949 [GRCh38]
Chr1:228346650 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.658A>G (p.Arg220Gly) single nucleotide variant Spastic paraplegia [RCV001892720] Chr1:228158416 [GRCh38]
Chr1:228346117 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.472_481dup (p.Ala161fs) duplication Hypomyelinating leukodystrophy 2 [RCV002052015] Chr1:228158228..228158229 [GRCh38]
Chr1:228345929..228345930 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.203A>G (p.Tyr68Cys) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV003339863]|Spastic paraplegia [RCV001967075] Chr1:228157961 [GRCh38]
Chr1:228345662 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic|uncertain significance
NM_020435.4(GJC2):c.371_392dup (p.His132fs) duplication Hypomyelinating leukodystrophy 2 [RCV001824213] Chr1:228158127..228158128 [GRCh38]
Chr1:228345828..228345829 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.174G>T (p.Thr58=) single nucleotide variant Hereditary spastic paraplegia [RCV001848450] Chr1:228157932 [GRCh38]
Chr1:228345633 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.127G>A (p.Gly43Ser) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV004691471]|Spastic paraplegia [RCV001965178] Chr1:228157885 [GRCh38]
Chr1:228345586 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
NM_020435.4(GJC2):c.997T>G (p.Tyr333Asp) single nucleotide variant Spastic paraplegia [RCV001982697] Chr1:228158755 [GRCh38]
Chr1:228346456 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.*95G>A single nucleotide variant Hereditary spastic paraplegia [RCV001848445] Chr1:228159173 [GRCh38]
Chr1:228346874 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.1019C>T (p.Ala340Val) single nucleotide variant Hereditary spastic paraplegia [RCV001848446]|Spastic paraplegia [RCV002545271] Chr1:228158777 [GRCh38]
Chr1:228346478 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1209C>T (p.Val403=) single nucleotide variant Hereditary spastic paraplegia [RCV001848449] Chr1:228158967 [GRCh38]
Chr1:228346668 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.300C>A (p.His100Gln) single nucleotide variant Hereditary spastic paraplegia [RCV001848451] Chr1:228158058 [GRCh38]
Chr1:228345759 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.540G>A (p.Lys180=) single nucleotide variant Hereditary spastic paraplegia [RCV001848453] Chr1:228158298 [GRCh38]
Chr1:228345999 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538) copy number loss not specified [RCV002052889] Chr1:228214912..231483538 [GRCh37]
Chr1:1q42.13-42.2		 pathogenic
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227) copy number loss not specified [RCV002052878] Chr1:226131690..231908227 [GRCh37]
Chr1:1q42.12-42.2		 likely pathogenic
NM_020435.4(GJC2):c.755A>G (p.His252Arg) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV001824214] Chr1:228158513 [GRCh38]
Chr1:228346214 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.409G>C (p.Glu137Gln) single nucleotide variant Spastic paraplegia [RCV001925777] Chr1:228158167 [GRCh38]
Chr1:228345868 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.661G>C (p.Ala221Pro) single nucleotide variant Spastic paraplegia [RCV001884231] Chr1:228158419 [GRCh38]
Chr1:228346120 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1088C>A (p.Ala363Glu) single nucleotide variant Spastic paraplegia [RCV001962034] Chr1:228158846 [GRCh38]
Chr1:228346547 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1013G>A (p.Arg338Gln) single nucleotide variant Inborn genetic diseases [RCV003167275]|Spastic paraplegia [RCV001924447]|not provided [RCV004691469] Chr1:228158771 [GRCh38]
Chr1:228346472 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.545_565dup (p.Val182_Ala188dup) duplication Spastic paraplegia [RCV001888683] Chr1:228158295..228158296 [GRCh38]
Chr1:228345996..228345997 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.661G>T (p.Ala221Ser) single nucleotide variant Spastic paraplegia [RCV001958498] Chr1:228158419 [GRCh38]
Chr1:228346120 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.498C>T (p.Gly166=) single nucleotide variant Spastic paraplegia [RCV001919697] Chr1:228158256 [GRCh38]
Chr1:228345957 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.454GAG[5] (p.Glu157_Glu158del) microsatellite Spastic paraplegia [RCV001924582] Chr1:228158212..228158217 [GRCh38]
Chr1:228345913..228345918 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.914_933dup (p.Ala312fs) duplication Spastic paraplegia [RCV002037972] Chr1:228158665..228158666 [GRCh38]
Chr1:228346366..228346367 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.516_530dup (p.Gly173_Ala177dup) duplication Hypomyelinating leukodystrophy 2 [RCV004698354]|Spastic paraplegia [RCV001878556] Chr1:228158262..228158263 [GRCh38]
Chr1:228345963..228345964 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.343C>T (p.Arg115Cys) single nucleotide variant Spastic paraplegia [RCV001921283]|not provided [RCV003134244] Chr1:228158101 [GRCh38]
Chr1:228345802 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.328C>G (p.Arg110Gly) single nucleotide variant Spastic paraplegia [RCV001934018] Chr1:228158086 [GRCh38]
Chr1:228345787 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1141_1151del (p.Ser381fs) deletion Hereditary spastic paraplegia 44 [RCV003227526]|Spastic paraplegia [RCV001902187] Chr1:228158895..228158905 [GRCh38]
Chr1:228346596..228346606 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.653T>C (p.Val218Ala) single nucleotide variant Spastic paraplegia [RCV001974512] Chr1:228158411 [GRCh38]
Chr1:228346112 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1038T>A (p.His346Gln) single nucleotide variant Inborn genetic diseases [RCV002548047]|Spastic paraplegia [RCV001932104] Chr1:228158796 [GRCh38]
Chr1:228346497 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.546_566dup (p.Ala184_Gly190dup) duplication Spastic paraplegia [RCV002027473] Chr1:228158303..228158304 [GRCh38]
Chr1:228346004..228346005 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.109G>A (p.Val37Met) single nucleotide variant Spastic paraplegia [RCV001952486] Chr1:228157867 [GRCh38]
Chr1:228345568 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.96G>A (p.Val32=) single nucleotide variant Spastic paraplegia [RCV001905511] Chr1:228157854 [GRCh38]
Chr1:228345555 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_020435.4(GJC2):c.752C>T (p.Pro251Leu) single nucleotide variant Spastic paraplegia [RCV001935734] Chr1:228158510 [GRCh38]
Chr1:228346211 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.633C>T (p.Arg211=) single nucleotide variant Spastic paraplegia [RCV001979825] Chr1:228158391 [GRCh38]
Chr1:228346092 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_020435.4(GJC2):c.539A>G (p.Lys180Arg) single nucleotide variant Spastic paraplegia [RCV002027938] Chr1:228158297 [GRCh38]
Chr1:228345998 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.295G>A (p.Val99Met) single nucleotide variant Spastic paraplegia [RCV001939898] Chr1:228158053 [GRCh38]
Chr1:228345754 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.35T>C (p.Leu12Pro) single nucleotide variant Spastic paraplegia [RCV001939227] Chr1:228157793 [GRCh38]
Chr1:228345494 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.426C>T (p.Gly142=) single nucleotide variant Spastic paraplegia [RCV001935828] Chr1:228158184 [GRCh38]
Chr1:228345885 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1028C>T (p.Ala343Val) single nucleotide variant Spastic paraplegia [RCV002046668] Chr1:228158786 [GRCh38]
Chr1:228346487 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.303C>T (p.Arg101=) single nucleotide variant Spastic paraplegia [RCV002109695] Chr1:228158061 [GRCh38]
Chr1:228345762 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.765C>T (p.Asp255=) single nucleotide variant Spastic paraplegia [RCV002147286] Chr1:228158523 [GRCh38]
Chr1:228346224 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.117G>C (p.Thr39=) single nucleotide variant Spastic paraplegia [RCV002206131] Chr1:228157875 [GRCh38]
Chr1:228345576 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.1158A>G (p.Arg386=) single nucleotide variant Spastic paraplegia [RCV002164860] Chr1:228158916 [GRCh38]
Chr1:228346617 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.543G>T (p.Ala181=) single nucleotide variant Spastic paraplegia [RCV002168574] Chr1:228158301 [GRCh38]
Chr1:228346002 [GRCh37]
Chr1:1q42.13		 benign
NM_020435.4(GJC2):c.561G>A (p.Lys187=) single nucleotide variant Spastic paraplegia [RCV002095529] Chr1:228158319 [GRCh38]
Chr1:228346020 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.84C>A (p.Leu28=) single nucleotide variant Spastic paraplegia [RCV002212688] Chr1:228157842 [GRCh38]
Chr1:228345543 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.27G>C (p.Leu9=) single nucleotide variant Spastic paraplegia [RCV002150093] Chr1:228157785 [GRCh38]
Chr1:228345486 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.-19-39_-19-23del deletion not provided [RCV002245100] Chr1:228157701..228157717 [GRCh38]
Chr1:228345402..228345418 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.453C>G (p.Gly151=) single nucleotide variant Spastic paraplegia [RCV002102869] Chr1:228158211 [GRCh38]
Chr1:228345912 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.408T>C (p.Pro136=) single nucleotide variant Spastic paraplegia [RCV002098638] Chr1:228158166 [GRCh38]
Chr1:228345867 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.537T>C (p.Thr179=) single nucleotide variant Spastic paraplegia [RCV002143645] Chr1:228158295 [GRCh38]
Chr1:228345996 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.291C>T (p.Tyr97=) single nucleotide variant Spastic paraplegia [RCV002218949] Chr1:228158049 [GRCh38]
Chr1:228345750 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.417C>G (p.Ala139=) single nucleotide variant Spastic paraplegia [RCV002120588] Chr1:228158175 [GRCh38]
Chr1:228345876 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.795G>T (p.Thr265=) single nucleotide variant Spastic paraplegia [RCV002157128] Chr1:228158553 [GRCh38]
Chr1:228346254 [GRCh37]
Chr1:1q42.13		 likely benign
NC_000001.10:g.(?_228337558)_(228346779_?)dup duplication Spastic paraplegia [RCV003109702] Chr1:228337558..228346779 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.30_31delinsAA (p.Thr10_Arg11=) indel Spastic paraplegia [RCV003118019] Chr1:228157788..228157789 [GRCh38]
Chr1:228345489..228345490 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.659G>A (p.Arg220Lys) single nucleotide variant GJC2-related disorder [RCV003906655]|not provided [RCV003131018] Chr1:228158417 [GRCh38]
Chr1:228346118 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.148G>A (p.Glu50Lys) single nucleotide variant Lymphatic malformation 3 [RCV002267577] Chr1:228157906 [GRCh38]
Chr1:228345607 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.392dup (p.His132fs) duplication not provided [RCV002262268] Chr1:228158145..228158146 [GRCh38]
Chr1:228345846..228345847 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.293C>A (p.Ala98Asp) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV002283998] Chr1:228158051 [GRCh38]
Chr1:228345752 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.716T>C (p.Val239Ala) single nucleotide variant Spastic paraplegia [RCV003097747]|not provided [RCV002287991] Chr1:228158474 [GRCh38]
Chr1:228346175 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_020435.4(GJC2):c.357dup (p.Pro120fs) duplication Hypomyelinating leukodystrophy 2 [RCV004691699] Chr1:228158111..228158112 [GRCh38]
Chr1:228345812..228345813 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.979_983dup (p.Cys329fs) duplication Hypomyelinating leukodystrophy 2 [RCV004691701] Chr1:228158732..228158733 [GRCh38]
Chr1:228346433..228346434 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.947del (p.Pro316fs) deletion not provided [RCV002262269] Chr1:228158701 [GRCh38]
Chr1:228346402 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.226C>A (p.His76Asn) single nucleotide variant Spastic paraplegia [RCV002301322] Chr1:228157984 [GRCh38]
Chr1:228345685 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.195C>A (p.Asn65Lys) single nucleotide variant Spastic paraplegia [RCV002296403] Chr1:228157953 [GRCh38]
Chr1:228345654 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.873G>A (p.Leu291=) single nucleotide variant Spastic paraplegia [RCV002615171] Chr1:228158631 [GRCh38]
Chr1:228346332 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.386C>G (p.Pro129Arg) single nucleotide variant Spastic paraplegia [RCV002948042] Chr1:228158144 [GRCh38]
Chr1:228345845 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.462G>A (p.Glu154=) single nucleotide variant Spastic paraplegia [RCV002908944] Chr1:228158220 [GRCh38]
Chr1:228345921 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.369_370del (p.Arg125fs) microsatellite Spastic paraplegia [RCV002820147] Chr1:228158122..228158123 [GRCh38]
Chr1:228345823..228345824 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.556G>A (p.Gly186Ser) single nucleotide variant Spastic paraplegia [RCV003075252] Chr1:228158314 [GRCh38]
Chr1:228346015 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.913C>T (p.Pro305Ser) single nucleotide variant Inborn genetic diseases [RCV002727768] Chr1:228158671 [GRCh38]
Chr1:228346372 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.641T>C (p.Val214Ala) single nucleotide variant Spastic paraplegia [RCV002730833] Chr1:228158399 [GRCh38]
Chr1:228346100 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.765C>G (p.Asp255Glu) single nucleotide variant Spastic paraplegia [RCV002755964] Chr1:228158523 [GRCh38]
Chr1:228346224 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_020435.4(GJC2):c.1122C>T (p.Cys374=) single nucleotide variant Spastic paraplegia [RCV002970987] Chr1:228158880 [GRCh38]
Chr1:228346581 [GRCh37]
Chr1:1q42.13		 likely benign
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13		 association
GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3 copy number gain not provided [RCV002475638] Chr1:227992928..236659905 [GRCh37]
Chr1:1q42.13-43		 likely pathogenic
NM_020435.4(GJC2):c.924CCCCGC[3] (p.Pro313_Arg314insAlaPro) microsatellite Spastic paraplegia [RCV002785697] Chr1:228158677..228158678 [GRCh38]
Chr1:228346378..228346379 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.327G>C (p.Glu109Asp) single nucleotide variant Inborn genetic diseases [RCV002692188] Chr1:228158085 [GRCh38]
Chr1:228345786 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.133G>C (p.Ala45Pro) single nucleotide variant Spastic paraplegia [RCV002975989] Chr1:228157891 [GRCh38]
Chr1:228345592 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.282C>T (p.Tyr94=) single nucleotide variant Spastic paraplegia [RCV002659483] Chr1:228158040 [GRCh38]
Chr1:228345741 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.29C>T (p.Thr10Met) single nucleotide variant Spastic paraplegia [RCV002637474] Chr1:228157787 [GRCh38]
Chr1:228345488 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1035G>C (p.Ala345=) single nucleotide variant Spastic paraplegia [RCV002886027] Chr1:228158793 [GRCh38]
Chr1:228346494 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.442C>A (p.Leu148Met) single nucleotide variant Inborn genetic diseases [RCV002950702] Chr1:228158200 [GRCh38]
Chr1:228345901 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1149G>C (p.Gly383=) single nucleotide variant Spastic paraplegia [RCV002622460] Chr1:228158907 [GRCh38]
Chr1:228346608 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.1021G>C (p.Glu341Gln) single nucleotide variant Inborn genetic diseases [RCV002869984] Chr1:228158779 [GRCh38]
Chr1:228346480 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1045A>C (p.Asn349His) single nucleotide variant Inborn genetic diseases [RCV002821229] Chr1:228158803 [GRCh38]
Chr1:228346504 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.919T>G (p.Ser307Ala) single nucleotide variant Inborn genetic diseases [RCV002692475] Chr1:228158677 [GRCh38]
Chr1:228346378 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.506C>T (p.Ala169Val) single nucleotide variant Spastic paraplegia [RCV003053878] Chr1:228158264 [GRCh38]
Chr1:228345965 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1037A>T (p.His346Leu) single nucleotide variant Spastic paraplegia [RCV002982193] Chr1:228158795 [GRCh38]
Chr1:228346496 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.229G>A (p.Val77Met) single nucleotide variant Inborn genetic diseases [RCV002787818] Chr1:228157987 [GRCh38]
Chr1:228345688 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
NM_020435.4(GJC2):c.418G>A (p.Asp140Asn) single nucleotide variant Inborn genetic diseases [RCV003160307]|Spastic paraplegia [RCV001043415] Chr1:228158176 [GRCh38]
Chr1:228345877 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.550G>T (p.Ala184Ser) single nucleotide variant not provided [RCV000994274] Chr1:228158308 [GRCh38]
Chr1:228346009 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.377C>T (p.Ala126Val) single nucleotide variant not provided [RCV001663631] Chr1:228158135 [GRCh38]
Chr1:228345836 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.309C>T (p.Ala103=) single nucleotide variant Spastic paraplegia [RCV001410985] Chr1:228158067 [GRCh38]
Chr1:228345768 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.1219G>A (p.Gly407Ser) single nucleotide variant Spastic paraplegia [RCV001892616] Chr1:228158977 [GRCh38]
Chr1:228346678 [GRCh37]
Chr1:1q42.13		 uncertain significance
NC_000001.10:g.(?_228194830)_(228566496_?)dup duplication Multiple mitochondrial dysfunctions syndrome 3 [RCV001943243]|not provided [RCV001919147] Chr1:228194830..228566496 [GRCh37]
Chr1:1q42.13		 uncertain significance|no classifications from unflagged records
NM_020435.4(GJC2):c.512A>C (p.Glu171Ala) single nucleotide variant Lymphatic malformation 3 [RCV003455764]|not provided [RCV003131017] Chr1:228158270 [GRCh38]
Chr1:228345971 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1289G>A (p.Ser430Asn) single nucleotide variant Spastic paraplegia [RCV003025807] Chr1:228159047 [GRCh38]
Chr1:228346748 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.960C>T (p.Phe320=) single nucleotide variant Spastic paraplegia [RCV002958702]|not provided [RCV003418665] Chr1:228158718 [GRCh38]
Chr1:228346419 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.224C>A (p.Ser75Ter) single nucleotide variant Spastic paraplegia [RCV003026170] Chr1:228157982 [GRCh38]
Chr1:228345683 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.1151C>A (p.Pro384His) single nucleotide variant Inborn genetic diseases [RCV002641227] Chr1:228158909 [GRCh38]
Chr1:228346610 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.84C>T (p.Leu28=) single nucleotide variant Spastic paraplegia [RCV002928324] Chr1:228157842 [GRCh38]
Chr1:228345543 [GRCh37]
Chr1:1q42.13		 likely benign
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_020435.4(GJC2):c.947C>A (p.Pro316Gln) single nucleotide variant Spastic paraplegia [RCV002982493] Chr1:228158705 [GRCh38]
Chr1:228346406 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.968C>T (p.Ala323Val) single nucleotide variant Spastic paraplegia [RCV002985680] Chr1:228158726 [GRCh38]
Chr1:228346427 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1229G>A (p.Gly410Asp) single nucleotide variant Spastic paraplegia [RCV002890205] Chr1:228158987 [GRCh38]
Chr1:228346688 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.549C>T (p.Gly183=) single nucleotide variant Spastic paraplegia [RCV002852537] Chr1:228158307 [GRCh38]
Chr1:228346008 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.902G>C (p.Arg301Pro) single nucleotide variant Spastic paraplegia [RCV003063282] Chr1:228158660 [GRCh38]
Chr1:228346361 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.373C>A (p.Arg125=) single nucleotide variant Spastic paraplegia [RCV003089554] Chr1:228158131 [GRCh38]
Chr1:228345832 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.1133C>T (p.Pro378Leu) single nucleotide variant Spastic paraplegia [RCV002578724] Chr1:228158891 [GRCh38]
Chr1:228346592 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.292G>A (p.Ala98Thr) single nucleotide variant Spastic paraplegia [RCV003062281] Chr1:228158050 [GRCh38]
Chr1:228345751 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.923C>T (p.Ala308Val) single nucleotide variant Spastic paraplegia [RCV002646210] Chr1:228158681 [GRCh38]
Chr1:228346382 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.139T>C (p.Tyr47His) single nucleotide variant Inborn genetic diseases [RCV002808049]|Spastic paraplegia [RCV003750936] Chr1:228157897 [GRCh38]
Chr1:228345598 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.231_233del (p.Arg78del) deletion Spastic paraplegia [RCV002857601] Chr1:228157989..228157991 [GRCh38]
Chr1:228345690..228345692 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.914dup (p.Ala306fs) duplication Lymphatic malformation 3 [RCV003989797]|Spastic paraplegia [RCV003009162] Chr1:228158666..228158667 [GRCh38]
Chr1:228346367..228346368 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.546C>G (p.Val182=) single nucleotide variant Spastic paraplegia [RCV002632883] Chr1:228158304 [GRCh38]
Chr1:228346005 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.1056C>G (p.Asn352Lys) single nucleotide variant Spastic paraplegia [RCV003063896] Chr1:228158814 [GRCh38]
Chr1:228346515 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.479G>A (p.Gly160Glu) single nucleotide variant Inborn genetic diseases [RCV002940747]|not provided [RCV004593191] Chr1:228158237 [GRCh38]
Chr1:228345938 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.530C>T (p.Ala177Val) single nucleotide variant Inborn genetic diseases [RCV003088185]|Spastic paraplegia [RCV003088186] Chr1:228158288 [GRCh38]
Chr1:228345989 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.649_651del (p.Leu217del) deletion Spastic paraplegia [RCV002814526] Chr1:228158406..228158408 [GRCh38]
Chr1:228346107..228346109 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.897C>T (p.Arg299=) single nucleotide variant Spastic paraplegia [RCV002814604] Chr1:228158655 [GRCh38]
Chr1:228346356 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.898G>A (p.Gly300Ser) single nucleotide variant Spastic paraplegia [RCV003070004] Chr1:228158656 [GRCh38]
Chr1:228346357 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.-20+1G>C single nucleotide variant Spastic paraplegia [RCV002634353] Chr1:228150008 [GRCh38]
Chr1:228337709 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.32G>A (p.Arg11Gln) single nucleotide variant Spastic paraplegia [RCV002654621] Chr1:228157790 [GRCh38]
Chr1:228345491 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.601C>T (p.Arg201Trp) single nucleotide variant Spastic paraplegia [RCV003070244] Chr1:228158359 [GRCh38]
Chr1:228346060 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1195T>C (p.Ser399Pro) single nucleotide variant Spastic paraplegia [RCV002587868] Chr1:228158953 [GRCh38]
Chr1:228346654 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.721C>T (p.Pro241Ser) single nucleotide variant Spastic paraplegia [RCV003069465] Chr1:228158479 [GRCh38]
Chr1:228346180 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.393G>A (p.Pro131=) single nucleotide variant Spastic paraplegia [RCV003066929] Chr1:228158151 [GRCh38]
Chr1:228345852 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.407C>G (p.Pro136Arg) single nucleotide variant Spastic paraplegia [RCV002612645] Chr1:228158165 [GRCh38]
Chr1:228345866 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1144C>T (p.Arg382Trp) single nucleotide variant Inborn genetic diseases [RCV003206234] Chr1:228158902 [GRCh38]
Chr1:228346603 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.820G>C (p.Val274Leu) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV004527454]|not provided [RCV003222658] Chr1:228158578 [GRCh38]
Chr1:228346279 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
NM_020435.4(GJC2):c.830T>C (p.Leu277Pro) single nucleotide variant Spastic paraplegia [RCV003750940]|not provided [RCV003135367] Chr1:228158588 [GRCh38]
Chr1:228346289 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.400G>A (p.Gly134Ser) single nucleotide variant Inborn genetic diseases [RCV003162195]|Spastic paraplegia [RCV003588863]|not provided [RCV003135369] Chr1:228158158 [GRCh38]
Chr1:228345859 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.934G>T (p.Ala312Ser) single nucleotide variant Inborn genetic diseases [RCV003204959] Chr1:228158692 [GRCh38]
Chr1:228346393 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.190G>A (p.Asp64Asn) single nucleotide variant Inborn genetic diseases [RCV003214256] Chr1:228157948 [GRCh38]
Chr1:228345649 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.916_928dup (p.Ala310fs) duplication Hypomyelinating leukodystrophy 2 [RCV004691694] Chr1:228158667..228158668 [GRCh38]
Chr1:228346368..228346369 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.746C>T (p.Pro249Leu) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV004691696] Chr1:228158504 [GRCh38]
Chr1:228346205 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.32G>C (p.Arg11Pro) single nucleotide variant Lymphatic malformation 3 [RCV003448739] Chr1:228157790 [GRCh38]
Chr1:228345491 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.607C>T (p.Arg203Cys) single nucleotide variant Lymphatic malformation 3 [RCV003455873] Chr1:228158365 [GRCh38]
Chr1:228346066 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.704A>G (p.Tyr235Cys) single nucleotide variant Spastic paraplegia [RCV003872883] Chr1:228158462 [GRCh38]
Chr1:228346163 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.706G>C (p.Gly236Arg) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV003484509] Chr1:228158464 [GRCh38]
Chr1:228346165 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.965C>A (p.Ala322Glu) single nucleotide variant not provided [RCV003481588] Chr1:228158723 [GRCh38]
Chr1:228346424 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.988C>T (p.Pro330Ser) single nucleotide variant not provided [RCV003414856] Chr1:228158746 [GRCh38]
Chr1:228346447 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.357G>T (p.Gly119=) single nucleotide variant Spastic paraplegia [RCV003882084] Chr1:228158115 [GRCh38]
Chr1:228345816 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.452G>T (p.Gly151Val) single nucleotide variant Spastic paraplegia [RCV003750712] Chr1:228158210 [GRCh38]
Chr1:228345911 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1128C>A (p.Gly376=) single nucleotide variant Spastic paraplegia [RCV003751494] Chr1:228158886 [GRCh38]
Chr1:228346587 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.784A>C (p.Thr262Pro) single nucleotide variant Spastic paraplegia [RCV003751496] Chr1:228158542 [GRCh38]
Chr1:228346243 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.484G>A (p.Ala162Thr) single nucleotide variant Spastic paraplegia [RCV003750758] Chr1:228158242 [GRCh38]
Chr1:228345943 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.584C>T (p.Thr195Ile) single nucleotide variant Spastic paraplegia [RCV003751282] Chr1:228158342 [GRCh38]
Chr1:228346043 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.412C>A (p.Pro138Thr) single nucleotide variant Spastic paraplegia [RCV003751808] Chr1:228158170 [GRCh38]
Chr1:228345871 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.975T>G (p.Ala325=) single nucleotide variant Spastic paraplegia [RCV003751943] Chr1:228158733 [GRCh38]
Chr1:228346434 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.338C>T (p.Ala113Val) single nucleotide variant Spastic paraplegia [RCV003751872] Chr1:228158096 [GRCh38]
Chr1:228345797 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.577G>T (p.Gly193Cys) single nucleotide variant Spastic paraplegia [RCV003750709] Chr1:228158335 [GRCh38]
Chr1:228346036 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.636G>C (p.Val212=) single nucleotide variant Spastic paraplegia [RCV003751746] Chr1:228158394 [GRCh38]
Chr1:228346095 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.766T>C (p.Cys256Arg) single nucleotide variant Spastic paraplegia [RCV003752348] Chr1:228158524 [GRCh38]
Chr1:228346225 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.902_910dup (p.Gly303_Pro304insArgArgGly) duplication Spastic paraplegia [RCV003751851] Chr1:228158652..228158653 [GRCh38]
Chr1:228346353..228346354 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.678C>T (p.Ala226=) single nucleotide variant Spastic paraplegia [RCV003752082] Chr1:228158436 [GRCh38]
Chr1:228346137 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.51C>T (p.His17=) single nucleotide variant GJC2-related disorder [RCV003956541]|Spastic paraplegia [RCV003751393] Chr1:228157809 [GRCh38]
Chr1:228345510 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.637T>A (p.Tyr213Asn) single nucleotide variant Spastic paraplegia [RCV003751658] Chr1:228158395 [GRCh38]
Chr1:228346096 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.69_82dup (p.Leu28fs) duplication Spastic paraplegia [RCV003588128] Chr1:228157826..228157827 [GRCh38]
Chr1:228345527..228345528 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.1013G>T (p.Arg338Leu) single nucleotide variant Spastic paraplegia [RCV003820376] Chr1:228158771 [GRCh38]
Chr1:228346472 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.782C>G (p.Pro261Arg) single nucleotide variant Spastic paraplegia [RCV003589346] Chr1:228158540 [GRCh38]
Chr1:228346241 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.363C>G (p.Arg121=) single nucleotide variant Spastic paraplegia [RCV003588096] Chr1:228158121 [GRCh38]
Chr1:228345822 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.1050G>A (p.Leu350=) single nucleotide variant Spastic paraplegia [RCV003590320] Chr1:228158808 [GRCh38]
Chr1:228346509 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.751C>G (p.Pro251Ala) single nucleotide variant Spastic paraplegia [RCV003589397] Chr1:228158509 [GRCh38]
Chr1:228346210 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1092T>A (p.Ala364=) single nucleotide variant Spastic paraplegia [RCV003842806] Chr1:228158850 [GRCh38]
Chr1:228346551 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.251T>C (p.Ile84Thr) single nucleotide variant Spastic paraplegia [RCV003588095] Chr1:228158009 [GRCh38]
Chr1:228345710 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.13(chr1:228215364-229747702)x1 copy number loss not specified [RCV003986606] Chr1:228215364..229747702 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.177G>T (p.Arg59=) single nucleotide variant Spastic paraplegia [RCV003588391] Chr1:228157935 [GRCh38]
Chr1:228345636 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.1125C>T (p.Val375=) single nucleotide variant Spastic paraplegia [RCV003588385] Chr1:228158883 [GRCh38]
Chr1:228346584 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.608G>A (p.Arg203His) single nucleotide variant Spastic paraplegia [RCV003590765] Chr1:228158366 [GRCh38]
Chr1:228346067 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1249G>C (p.Ala417Pro) single nucleotide variant Spastic paraplegia [RCV003588303] Chr1:228159007 [GRCh38]
Chr1:228346708 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.175C>A (p.Arg59=) single nucleotide variant Spastic paraplegia [RCV003589064] Chr1:228157933 [GRCh38]
Chr1:228345634 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.909C>A (p.Gly303=) single nucleotide variant not provided [RCV003993275] Chr1:228158667 [GRCh38]
Chr1:228346368 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.619G>A (p.Glu207Lys) single nucleotide variant Lymphatic malformation 3 [RCV003989192] Chr1:228158377 [GRCh38]
Chr1:228346078 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.104G>A (p.Arg35His) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV003985010] Chr1:228157862 [GRCh38]
Chr1:228345563 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.360A>G (p.Pro120=) single nucleotide variant GJC2-related disorder [RCV003961711] Chr1:228158118 [GRCh38]
Chr1:228345819 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.86C>T (p.Thr29Met) single nucleotide variant Inborn genetic diseases [RCV004390820] Chr1:228157844 [GRCh38]
Chr1:228345545 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1177C>G (p.Arg393Gly) single nucleotide variant Inborn genetic diseases [RCV004390815] Chr1:228158935 [GRCh38]
Chr1:228346636 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.175C>T (p.Arg59Trp) single nucleotide variant Inborn genetic diseases [RCV004390816] Chr1:228157933 [GRCh38]
Chr1:228345634 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.370C>T (p.Pro124Ser) single nucleotide variant Inborn genetic diseases [RCV004390817] Chr1:228158128 [GRCh38]
Chr1:228345829 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.440T>C (p.Met147Thr) single nucleotide variant Inborn genetic diseases [RCV004390819] Chr1:228158198 [GRCh38]
Chr1:228345899 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.405G>T (p.Trp135Cys) single nucleotide variant Inborn genetic diseases [RCV004390818] Chr1:228158163 [GRCh38]
Chr1:228345864 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.693G>T (p.Gln231His) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV004691693] Chr1:228158451 [GRCh38]
Chr1:228346152 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.790A>T (p.Lys264Ter) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV004691697] Chr1:228158548 [GRCh38]
Chr1:228346249 [GRCh37]
Chr1:1q42.13		 pathogenic
NC_000001.10:g.(?_228194830)_(228566496_?)del deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV004583928]|Spastic paraplegia [RCV004583927] Chr1:228194830..228566496 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.176G>C (p.Arg59Pro) single nucleotide variant Inborn genetic diseases [RCV004627141] Chr1:228157934 [GRCh38]
Chr1:228345635 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.575C>T (p.Pro192Leu) single nucleotide variant Inborn genetic diseases [RCV004627142] Chr1:228158333 [GRCh38]
Chr1:228346034 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.706G>A (p.Gly236Ser) single nucleotide variant not provided [RCV004697649] Chr1:228158464 [GRCh38]
Chr1:228346165 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.196_201del (p.Val66_Cys67del) deletion Hypomyelinating leukodystrophy 2 [RCV004691695] Chr1:228157953..228157958 [GRCh38]
Chr1:228345654..228345659 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.99del (p.Phe34fs) deletion Hypomyelinating leukodystrophy 2 [RCV004691698] Chr1:228157857 [GRCh38]
Chr1:228345558 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_020435.4(GJC2):c.282C>G (p.Tyr94Ter) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV004698399] Chr1:228158040 [GRCh38]
Chr1:228345741 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.184G>C (p.Gly62Arg) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV004586412] Chr1:228157942 [GRCh38]
Chr1:228345643 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.126C>T (p.Gly42=) single nucleotide variant Spastic paraplegia [RCV003590060] Chr1:228157884 [GRCh38]
Chr1:228345585 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.1105C>T (p.Arg369Trp) single nucleotide variant Spastic paraplegia [RCV003083955] Chr1:228158863 [GRCh38]
Chr1:228346564 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.496G>A (p.Gly166Ser) single nucleotide variant Spastic paraplegia [RCV002572692] Chr1:228158254 [GRCh38]
Chr1:228345955 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.1191T>A (p.Ala397=) single nucleotide variant Spastic paraplegia [RCV002680772] Chr1:228158949 [GRCh38]
Chr1:228346650 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.814T>C (p.Tyr272His) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV003340989] Chr1:228158572 [GRCh38]
Chr1:228346273 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.644C>T (p.Ala215Val) single nucleotide variant Spastic paraplegia [RCV003874058] Chr1:228158402 [GRCh38]
Chr1:228346103 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.453C>T (p.Gly151=) single nucleotide variant Spastic paraplegia [RCV003750713] Chr1:228158211 [GRCh38]
Chr1:228345912 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.372C>G (p.Pro124=) single nucleotide variant Spastic paraplegia [RCV003751212] Chr1:228158130 [GRCh38]
Chr1:228345831 [GRCh37]
Chr1:1q42.13		 likely benign
NM_020435.4(GJC2):c.368C>A (p.Ala123Glu) single nucleotide variant Spastic paraplegia [RCV003588368] Chr1:228158126 [GRCh38]
Chr1:228345827 [GRCh37]
Chr1:1q42.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:457
Count of miRNA genes:349
Interacting mature miRNAs:376
Transcripts:ENST00000366714
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH80270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,336,398 - 228,336,628UniSTSGRCh37
Build 361226,403,021 - 226,403,251RGDNCBI36
Celera1201,526,640 - 201,526,870RGD
Cytogenetic Map1q32-q41UniSTS
Cytogenetic Map1q42.13UniSTS
HuRef1198,851,427 - 198,851,657UniSTS
GeneMap99-GB4 RH Map1720.67UniSTS
D1S174E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,347,280 - 228,347,503UniSTSGRCh37
Build 361226,413,903 - 226,414,126RGDNCBI36
Celera1201,537,521 - 201,537,744RGD
Cytogenetic Map1q42.13UniSTS
HuRef1198,862,255 - 198,862,478UniSTS


Sequence


Ensembl Acc Id: ENST00000366714   ⟹   ENSP00000355675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,149,930 - 228,159,826 (+)Ensembl
RefSeq Acc Id: NM_020435   ⟹   NP_065168
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,149,930 - 228,159,826 (+)NCBI
GRCh371228,337,415 - 228,347,527 (+)ENTREZGENE
Build 361226,404,176 - 226,414,150 (+)NCBI Archive
HuRef1198,852,444 - 198,862,502 (+)ENTREZGENE
CHM1_11229,609,739 - 229,619,848 (+)NCBI
T2T-CHM13v2.01227,338,927 - 227,348,822 (+)NCBI
Sequence:
RefSeq Acc Id: NP_065168   ⟸   NM_020435
- UniProtKB: Q7Z7J2 (UniProtKB/Swiss-Prot),   O43440 (UniProtKB/Swiss-Prot),   Q8IWJ9 (UniProtKB/Swiss-Prot),   Q5T442 (UniProtKB/Swiss-Prot),   A0A654IBV7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000355675   ⟸   ENST00000366714
Protein Domains
Connexin N-terminal   Gap junction protein cysteine-rich

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5T442-F1-model_v2 AlphaFold Q5T442 1-439 view protein structure

Promoters
RGD ID:6785646
Promoter ID:HG_KWN:7688
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000366714
Position:
Human AssemblyChrPosition (strand)Source
Build 361226,403,166 - 226,404,317 (+)MPROMDB
RGD ID:6859240
Promoter ID:EPDNEW_H2760
Type:initiation region
Name:GJC2_2
Description:gap junction protein gamma 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2761  EPDNEW_H2762  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,149,653 - 228,149,713EPDNEW
RGD ID:6859192
Promoter ID:EPDNEW_H2761
Type:initiation region
Name:GJC2_1
Description:gap junction protein gamma 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2762  EPDNEW_H2760  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,149,930 - 228,149,990EPDNEW
RGD ID:6859194
Promoter ID:EPDNEW_H2762
Type:single initiation site
Name:GJC2_3
Description:gap junction protein gamma 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2761  EPDNEW_H2760  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,154,861 - 228,154,921EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17494 AgrOrtholog
COSMIC GJC2 COSMIC
Ensembl Genes ENSG00000198835 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000366714 ENTREZGENE
  ENST00000366714.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1440.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198835 GTEx
HGNC ID HGNC:17494 ENTREZGENE
Human Proteome Map GJC2 Human Proteome Map
InterPro Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57165 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 57165 ENTREZGENE
OMIM 608803 OMIM
PANTHER GAP JUNCTION GAMMA-2 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11984 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162389696 PharmGKB
PRINTS CONNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CONNEXINS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CONNEXINS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CNX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A654IBV7 ENTREZGENE, UniProtKB/TrEMBL
  B9U3U6_HUMAN UniProtKB/TrEMBL
  CXG2_HUMAN UniProtKB/Swiss-Prot
  O43440 ENTREZGENE
  Q5T442 ENTREZGENE
  Q7Z7J2 ENTREZGENE
  Q8IWJ9 ENTREZGENE
UniProt Secondary O43440 UniProtKB/Swiss-Prot
  Q7Z7J2 UniProtKB/Swiss-Prot
  Q8IWJ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 GJC2  gap junction protein gamma 2  GJC2  gap junction protein, gamma 2, 47kDa  Symbol and/or name change 5135510 APPROVED