LRRC8A (leucine rich repeat containing 8 VRAC subunit A) - Rat Genome Database

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Gene: LRRC8A (leucine rich repeat containing 8 VRAC subunit A) Homo sapiens
Analyze
Symbol: LRRC8A
Name: leucine rich repeat containing 8 VRAC subunit A
RGD ID: 1323279
HGNC Page HGNC:19027
Description: Enables cyclic-GMP-AMP transmembrane transporter activity; identical protein binding activity; and volume-sensitive anion channel activity. Contributes to monoatomic anion channel activity. Involved in several processes, including chloride transmembrane transport; cyclic-GMP-AMP transmembrane import across plasma membrane; and protein hexamerization. Located in cell surface; lysosomal membrane; and plasma membrane. Part of monoatomic ion channel complex. Implicated in agammaglobulinemia and agammaglobulinemia 5.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AGM5; FLJ10337; FLJ41617; HsLRRC8A; KIAA1437; leucine rich repeat containing 8; leucine rich repeat containing 8 family member A; leucine rich repeat containing 8 family, member A; leucine-rich repeat containing 8 family member A; leucine-rich repeat-containing protein 8A; LRRC8; SWELL1; swelling protein 1; volume-regulated anion channel subunit LRRC8A
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
GRCh389128,882,133 - 128,918,039 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9128,882,133 - 128,918,039 (+)EnsemblGRCh38hg38GRCh38
GRCh379131,644,412 - 131,680,318 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369130,684,268 - 130,720,136 (+)NCBINCBI36Build 36hg18NCBI36
Celera9102,296,285 - 102,332,152 (+)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9101,252,498 - 101,288,005 (+)NCBIHuRef
CHM1_19131,795,371 - 131,831,304 (+)NCBICHM1_1
T2T-CHM13v2.09141,086,880 - 141,122,794 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell surface  (IDA)
cytoplasm  (IBA)
lysosomal membrane  (IDA,IEA)
lysosome  (IEA)
membrane  (HDA,IDA,IEA)
monoatomic ion channel complex  (IBA,IDA,IEA)
plasma membrane  (IBA,IDA,IEA,ISS,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. Sawada A, etal., J Clin Invest. 2003 Dec;112(11):1707-13.
Additional References at PubMed
PMID:10718198   PMID:12477932   PMID:12975309   PMID:14660738   PMID:14702039   PMID:15094057   PMID:15164053   PMID:15183935   PMID:15489334   PMID:16303743   PMID:16344560   PMID:17081983  
PMID:19322201   PMID:19946888   PMID:21873635   PMID:22810586   PMID:22939629   PMID:23178491   PMID:24725410   PMID:24790029   PMID:25921289   PMID:26186194   PMID:26496610   PMID:26824658  
PMID:26984736   PMID:27112899   PMID:27325695   PMID:27579940   PMID:27764579   PMID:27838438   PMID:28193731   PMID:28436964   PMID:28514442   PMID:28692057   PMID:29507755   PMID:29769723  
PMID:29925591   PMID:29961565   PMID:30015914   PMID:30095067   PMID:30127360   PMID:30135305   PMID:30252954   PMID:30931966   PMID:30982627   PMID:31056421   PMID:31091194   PMID:31127489  
PMID:31323188   PMID:31804464   PMID:31871319   PMID:31995728   PMID:33139539   PMID:33171122   PMID:33356947   PMID:33476655   PMID:33845483   PMID:33864161   PMID:33932953   PMID:33961781  
PMID:34079125   PMID:34083438   PMID:34349018   PMID:34709727   PMID:35145074   PMID:35271311   PMID:35696571   PMID:35944360   PMID:36215168   PMID:36244648   PMID:36526897   PMID:36610398  
PMID:37071682   PMID:37129855   PMID:37468723   PMID:37524750   PMID:37543949   PMID:38350542  


Genomics

Comparative Map Data
LRRC8A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389128,882,133 - 128,918,039 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9128,882,133 - 128,918,039 (+)EnsemblGRCh38hg38GRCh38
GRCh379131,644,412 - 131,680,318 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369130,684,268 - 130,720,136 (+)NCBINCBI36Build 36hg18NCBI36
Celera9102,296,285 - 102,332,152 (+)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9101,252,498 - 101,288,005 (+)NCBIHuRef
CHM1_19131,795,371 - 131,831,304 (+)NCBICHM1_1
T2T-CHM13v2.09141,086,880 - 141,122,794 (+)NCBIT2T-CHM13v2.0
Lrrc8a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39230,127,781 - 30,153,802 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl230,127,727 - 30,153,802 (+)EnsemblGRCm39 Ensembl
GRCm38230,237,769 - 30,263,790 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl230,237,715 - 30,263,790 (+)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl230,240,567 - 30,282,148 (+)EnsemblGRCm38mm10GRCm38
MGSCv37230,093,289 - 30,119,310 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36230,059,778 - 30,085,799 (+)NCBIMGSCv36mm8
Celera229,942,159 - 29,968,181 (+)NCBICelera
Cytogenetic Map2BNCBI
cM Map221.41NCBI
Lrrc8a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8333,902,299 - 33,934,989 (+)NCBIGRCr8
mRatBN7.2313,509,577 - 13,537,174 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl313,510,513 - 13,536,202 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx316,582,049 - 16,607,745 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0325,167,015 - 25,192,710 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0323,412,851 - 23,438,502 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.038,801,544 - 8,829,506 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl38,802,852 - 8,828,533 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0314,155,802 - 14,182,455 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.439,280,625 - 9,306,317 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.139,280,924 - 9,306,606 (+)NCBI
Celera38,277,157 - 8,302,778 (+)NCBICelera
Cytogenetic Map3p12NCBI
Lrrc8a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555701,271,131 - 1,295,773 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555701,270,710 - 1,295,658 (+)NCBIChiLan1.0ChiLan1.0
LRRC8A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21110,434,536 - 10,470,431 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1910,436,885 - 10,472,779 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09100,003,969 - 100,039,859 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19128,670,292 - 128,705,466 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9128,670,292 - 128,705,466 (+)Ensemblpanpan1.1panPan2
LRRC8A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1954,732,847 - 54,760,077 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl954,734,505 - 54,756,780 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha953,928,394 - 53,955,628 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0955,653,903 - 55,681,136 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl955,638,508 - 55,681,057 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1954,414,997 - 54,442,249 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0954,727,390 - 54,754,601 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0954,820,897 - 54,848,149 (-)NCBIUU_Cfam_GSD_1.0
Lrrc8a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947196,592,173 - 196,619,336 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648716,361,014 - 16,389,380 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648716,360,672 - 16,387,860 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRRC8A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1269,209,693 - 269,238,521 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11269,209,660 - 269,238,529 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21303,258,058 - 303,270,700 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LRRC8A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1129,237,706 - 9,272,637 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl129,234,738 - 9,272,565 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666096207,064 - 244,637 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lrrc8a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247606,122,626 - 6,147,076 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247606,122,626 - 6,148,033 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LRRC8A
386 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.11(chr9:128808545-129002107)x3 copy number gain See cases [RCV000052257] Chr9:128808545..129002107 [GRCh38]
Chr9:131570824..131764386 [GRCh37]
Chr9:130610645..130804207 [NCBI36]
Chr9:9q34.11		 uncertain significance
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 copy number loss See cases [RCV000052923] Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1 copy number loss See cases [RCV000052934] Chr9:127874581..130421811 [GRCh38]
Chr9:130636860..133297198 [GRCh37]
Chr9:129676681..132287019 [NCBI36]
Chr9:9q34.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3 copy number gain See cases [RCV000053777] Chr9:127919476..130079974 [GRCh38]
Chr9:130681755..132842253 [GRCh37]
Chr9:129721576..131882074 [NCBI36]
Chr9:9q34.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1 copy number loss See cases [RCV000138126] Chr9:128610170..129368351 [GRCh38]
Chr9:131372449..132130630 [GRCh37]
Chr9:130412270..131170451 [NCBI36]
Chr9:9q34.11		 uncertain significance
GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3 copy number gain See cases [RCV000137775] Chr9:128839676..130912873 [GRCh38]
Chr9:131601955..133788260 [GRCh37]
Chr9:130641776..132778081 [NCBI36]
Chr9:9q34.11-34.12		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1 copy number loss See cases [RCV000138929] Chr9:128236347..128912067 [GRCh38]
Chr9:130998626..131674346 [GRCh37]
Chr9:130038447..130714167 [NCBI36]
Chr9:9q34.11		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_019594.4(LRRC8A):c.1371C>T (p.Pro457=) single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV001803967]|not provided [RCV000757443]|not specified [RCV001727801] Chr9:128908535 [GRCh38]
Chr9:131670814 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.1064C>T (p.Ser355Leu) single nucleotide variant not provided [RCV000757444] Chr9:128908228 [GRCh38]
Chr9:131670507 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q34.11(chr9:131550680-131775355)x3 copy number gain See cases [RCV000240044] Chr9:131550680..131775355 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.11(chr9:131622711-131689418)x1 copy number loss See cases [RCV000240307] Chr9:131622711..131689418 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q34.11(chr9:131282528-131720659)x3 copy number gain not provided [RCV001270669] Chr9:131282528..131720659 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 copy number loss See cases [RCV000445837] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
NM_019594.4(LRRC8A):c.1014T>C (p.Tyr338=) single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV001730692]|not provided [RCV001515960]|not specified [RCV000455119] Chr9:128908178 [GRCh38]
Chr9:131670457 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.1476T>C (p.Arg492=) single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV001730693]|not provided [RCV001513886]|not specified [RCV000455788] Chr9:128908640 [GRCh38]
Chr9:131670919 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.774C>T (p.Asp258=) single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV000506087]|not provided [RCV001516112] Chr9:128907938 [GRCh38]
Chr9:131670217 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.1699G>A (p.Val567Met) single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV000999902]|LRRC8A-related disorder [RCV003935327]|not provided [RCV000506923] Chr9:128908863 [GRCh38]
Chr9:131671142 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1509C>T (p.Thr503=) single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV000507866]|not provided [RCV001516636] Chr9:128908673 [GRCh38]
Chr9:131670952 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.867C>T (p.Ile289=) single nucleotide variant LRRC8A-related disorder [RCV003963258]|not provided [RCV001394442] Chr9:128908031 [GRCh38]
Chr9:131670310 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.320A>G (p.Asn107Ser) single nucleotide variant not specified [RCV004313021] Chr9:128907484 [GRCh38]
Chr9:131669763 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.356A>G (p.His119Arg) single nucleotide variant not specified [RCV004298053] Chr9:128907520 [GRCh38]
Chr9:131669799 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 copy number loss not provided [RCV000748671] Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12		 pathogenic
GRCh37/hg19 9q34.11-34.12(chr9:131413885-133866894)x1 copy number loss not provided [RCV000748699] Chr9:131413885..133866894 [GRCh37]
Chr9:9q34.11-34.12		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_019594.4(LRRC8A):c.531G>A (p.Val177=) single nucleotide variant not provided [RCV000938448] Chr9:128907695 [GRCh38]
Chr9:131669974 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1586C>T (p.Ala529Val) single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV000986131]|LRRC8A-related disorder [RCV003413771]|not provided [RCV001858634] Chr9:128908750 [GRCh38]
Chr9:131671029 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_019594.4(LRRC8A):c.996C>T (p.Tyr332=) single nucleotide variant not provided [RCV000903145] Chr9:128908160 [GRCh38]
Chr9:131670439 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.1476= (p.Arg492=) variation not provided [RCV000948193] Chr9:128908640 [GRCh38]
Chr9:131670919 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.888C>T (p.Thr296=) single nucleotide variant not provided [RCV000919970] Chr9:128908052 [GRCh38]
Chr9:131670331 [GRCh37]
Chr9:9q34.11		 likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_019594.4(LRRC8A):c.2223C>T (p.Asn741=) single nucleotide variant not provided [RCV000910197] Chr9:128916161 [GRCh38]
Chr9:131678440 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1788G>A (p.Leu596=) single nucleotide variant LRRC8A-related disorder [RCV003930735]|not provided [RCV000888806] Chr9:128908952 [GRCh38]
Chr9:131671231 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.2328C>T (p.Cys776=) single nucleotide variant not provided [RCV000901369] Chr9:128916266 [GRCh38]
Chr9:131678545 [GRCh37]
Chr9:9q34.11		 likely benign
GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071) copy number loss not provided [RCV000767561] Chr9:131670024..134514071 [GRCh37]
Chr9:9q34.11-34.13		 likely pathogenic
NM_019594.4(LRRC8A):c.558C>T (p.Ala186=) single nucleotide variant not provided [RCV000980879] Chr9:128907722 [GRCh38]
Chr9:131670001 [GRCh37]
Chr9:9q34.11		 likely benign
GRCh37/hg19 9q34.11(chr9:130957344-132310210)x1 copy number loss not provided [RCV001006274] Chr9:130957344..132310210 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile) single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV002495422]|LRRC8A-related disorder [RCV003922868]|not provided [RCV000896132] Chr9:128908770 [GRCh38]
Chr9:131671049 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_019594.4(LRRC8A):c.2160C>T (p.Ile720=) single nucleotide variant not provided [RCV000938746] Chr9:128916098 [GRCh38]
Chr9:131678377 [GRCh37]
Chr9:9q34.11		 likely benign
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_019594.4(LRRC8A):c.203C>T (p.Ser68Leu) single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV000986130]|not provided [RCV002550594] Chr9:128907367 [GRCh38]
Chr9:131669646 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_019594.4(LRRC8A):c.1634G>A (p.Arg545His) single nucleotide variant not provided [RCV003852824] Chr9:128908798 [GRCh38]
Chr9:131671077 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2191C>T (p.Arg731Trp) single nucleotide variant not provided [RCV003779890]|not specified [RCV004296203] Chr9:128916129 [GRCh38]
Chr9:131678408 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.324C>T (p.Tyr108=) single nucleotide variant LRRC8A-related disorder [RCV004746141]|not provided [RCV000902583] Chr9:128907488 [GRCh38]
Chr9:131669767 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.855C>T (p.Tyr285=) single nucleotide variant not provided [RCV000919054] Chr9:128908019 [GRCh38]
Chr9:131670298 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_019594.4(LRRC8A):c.2346C>T (p.Ser782=) single nucleotide variant not provided [RCV000932669] Chr9:128916284 [GRCh38]
Chr9:131678563 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.936C>T (p.His312=) single nucleotide variant not provided [RCV000963499] Chr9:128908100 [GRCh38]
Chr9:131670379 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1152G>T (p.Pro384=) single nucleotide variant not provided [RCV000942275] Chr9:128908316 [GRCh38]
Chr9:131670595 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1587G>A (p.Ala529=) single nucleotide variant not provided [RCV000915476] Chr9:128908751 [GRCh38]
Chr9:131671030 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.117C>T (p.Ala39=) single nucleotide variant LRRC8A-related disorder [RCV003906063]|not provided [RCV000973445] Chr9:128907281 [GRCh38]
Chr9:131669560 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.51C>T (p.Tyr17=) single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV001001644]|LRRC8A-related disorder [RCV003940626]|not provided [RCV000889038] Chr9:128907215 [GRCh38]
Chr9:131669494 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.1995G>A (p.Glu665=) single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV001804110]|not provided [RCV000956755]|not specified [RCV001726386] Chr9:128909159 [GRCh38]
Chr9:131671438 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=) single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV001001645]|LRRC8A-related disorder [RCV003935868]|not provided [RCV000956753] Chr9:128908622 [GRCh38]
Chr9:131670901 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_019594.4(LRRC8A):c.1803T>C (p.Cys601=) single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV001001646]|LRRC8A-related disorder [RCV003935869]|not provided [RCV000956754] Chr9:128908967 [GRCh38]
Chr9:131671246 [GRCh37]
Chr9:9q34.11		 benign
GRCh37/hg19 9q34.11(chr9:131094304-131863858)x3 copy number gain not provided [RCV001006275] Chr9:131094304..131863858 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2118C>G (p.Leu706=) single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV001000413]|LRRC8A-related disorder [RCV003918637]|not provided [RCV001513797] Chr9:128909282 [GRCh38]
Chr9:131671561 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.-8-11C>T single nucleotide variant not provided [RCV001666293] Chr9:128907146 [GRCh38]
Chr9:131669425 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.1272G>A (p.Ala424=) single nucleotide variant not provided [RCV001311793] Chr9:128908436 [GRCh38]
Chr9:131670715 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1075G>A (p.Glu359Lys) single nucleotide variant not provided [RCV001295700]|not specified [RCV004036013] Chr9:128908239 [GRCh38]
Chr9:131670518 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2035A>G (p.Thr679Ala) single nucleotide variant not provided [RCV001342908] Chr9:128909199 [GRCh38]
Chr9:131671478 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2250G>A (p.Val750=) single nucleotide variant LRRC8A-related disorder [RCV003908537]|not provided [RCV001350247] Chr9:128916188 [GRCh38]
Chr9:131678467 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_019594.4(LRRC8A):c.1151C>T (p.Pro384Leu) single nucleotide variant not provided [RCV001368348] Chr9:128908315 [GRCh38]
Chr9:131670594 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2224G>C (p.Val742Leu) single nucleotide variant not provided [RCV001338726] Chr9:128916162 [GRCh38]
Chr9:131678441 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2267del (p.Leu756fs) deletion Agammaglobulinemia 5, autosomal dominant [RCV001329721] Chr9:128916205 [GRCh38]
Chr9:131678484 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2317C>A (p.Leu773Met) single nucleotide variant not provided [RCV001355895] Chr9:128916255 [GRCh38]
Chr9:131678534 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_019594.4(LRRC8A):c.2402G>A (p.Arg801Gln) single nucleotide variant not provided [RCV001508642]|not specified [RCV004037893] Chr9:128916340 [GRCh38]
Chr9:131678619 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1974C>T (p.Ile658=) single nucleotide variant not provided [RCV001459155] Chr9:128909138 [GRCh38]
Chr9:131671417 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.804C>A (p.Thr268=) single nucleotide variant LRRC8A-related disorder [RCV003956102]|not provided [RCV001500289] Chr9:128907968 [GRCh38]
Chr9:131670247 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.264G>A (p.Pro88=) single nucleotide variant not provided [RCV001479780] Chr9:128907428 [GRCh38]
Chr9:131669707 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.492C>T (p.Phe164=) single nucleotide variant not provided [RCV001423709] Chr9:128907656 [GRCh38]
Chr9:131669935 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.510G>A (p.Thr170=) single nucleotide variant not provided [RCV001398130] Chr9:128907674 [GRCh38]
Chr9:131669953 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.333T>C (p.Ala111=) single nucleotide variant LRRC8A-related disorder [RCV003931043]|not provided [RCV001510371] Chr9:128907497 [GRCh38]
Chr9:131669776 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.2157+11C>T single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV001803344]|not provided [RCV001518847] Chr9:128909332 [GRCh38]
Chr9:131671611 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.2322C>T (p.Gly774=) single nucleotide variant not provided [RCV001417641] Chr9:128916260 [GRCh38]
Chr9:131678539 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1997G>A (p.Arg666His) single nucleotide variant not provided [RCV001508641] Chr9:128909161 [GRCh38]
Chr9:131671440 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.276G>A (p.Thr92=) single nucleotide variant not provided [RCV003108553] Chr9:128907440 [GRCh38]
Chr9:131669719 [GRCh37]
Chr9:9q34.11		 likely benign
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3 copy number gain not provided [RCV001832977] Chr9:128523763..132604808 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
NM_019594.4(LRRC8A):c.670G>A (p.Val224Met) single nucleotide variant not provided [RCV001795675] Chr9:128907834 [GRCh38]
Chr9:131670113 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2165C>T (p.Thr722Met) single nucleotide variant not provided [RCV002024981] Chr9:128916103 [GRCh38]
Chr9:131678382 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.641G>A (p.Arg214Gln) single nucleotide variant not provided [RCV001874070]|not specified [RCV004038993] Chr9:128907805 [GRCh38]
Chr9:131670084 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1117G>A (p.Ala373Thr) single nucleotide variant not provided [RCV001915426] Chr9:128908281 [GRCh38]
Chr9:131670560 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.625G>A (p.Val209Met) single nucleotide variant not provided [RCV001929954]|not specified [RCV004040323] Chr9:128907789 [GRCh38]
Chr9:131670068 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1622G>A (p.Arg541Gln) single nucleotide variant not provided [RCV002044786] Chr9:128908786 [GRCh38]
Chr9:131671065 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1475_1476inv (p.Arg492His) inversion not provided [RCV001950294] Chr9:128908639..128908640 [GRCh38]
Chr9:131670918..131670919 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.889G>A (p.Val297Met) single nucleotide variant not provided [RCV002044805] Chr9:128908053 [GRCh38]
Chr9:131670332 [GRCh37]
Chr9:9q34.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_019594.4(LRRC8A):c.669C>T (p.Ile223=) single nucleotide variant not provided [RCV001969420] Chr9:128907833 [GRCh38]
Chr9:131670112 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.593C>T (p.Ser198Leu) single nucleotide variant not provided [RCV002023886] Chr9:128907757 [GRCh38]
Chr9:131670036 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2293C>T (p.Arg765Trp) single nucleotide variant not provided [RCV001929136] Chr9:128916231 [GRCh38]
Chr9:131678510 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2430C>G (p.Ala810=) single nucleotide variant not provided [RCV001986754] Chr9:128916368 [GRCh38]
Chr9:131678647 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_019594.4(LRRC8A):c.2187G>C (p.Gln729His) single nucleotide variant not provided [RCV002020435] Chr9:128916125 [GRCh38]
Chr9:131678404 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_019594.4(LRRC8A):c.1036C>T (p.Arg346Cys) single nucleotide variant not provided [RCV002005911] Chr9:128908200 [GRCh38]
Chr9:131670479 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1445A>C (p.Lys482Thr) single nucleotide variant not provided [RCV001986217] Chr9:128908609 [GRCh38]
Chr9:131670888 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1249C>T (p.Arg417Trp) single nucleotide variant not provided [RCV001965854] Chr9:128908413 [GRCh38]
Chr9:131670692 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1028T>C (p.Met343Thr) single nucleotide variant not provided [RCV001908891] Chr9:128908192 [GRCh38]
Chr9:131670471 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1837C>T (p.Leu613Phe) single nucleotide variant not provided [RCV002022986] Chr9:128909001 [GRCh38]
Chr9:131671280 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.207C>A (p.Phe69Leu) single nucleotide variant not provided [RCV002024049] Chr9:128907371 [GRCh38]
Chr9:131669650 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1510G>A (p.Asp504Asn) single nucleotide variant not provided [RCV001987252] Chr9:128908674 [GRCh38]
Chr9:131670953 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2113G>A (p.Gly705Ser) single nucleotide variant See cases [RCV002252754]|not provided [RCV002023310] Chr9:128909277 [GRCh38]
Chr9:131671556 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_019594.4(LRRC8A):c.1487G>A (p.Arg496Gln) single nucleotide variant not provided [RCV002023863]|not specified [RCV004046858] Chr9:128908651 [GRCh38]
Chr9:131670930 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
NM_019594.4(LRRC8A):c.926G>A (p.Arg309His) single nucleotide variant not provided [RCV001911526] Chr9:128908090 [GRCh38]
Chr9:131670369 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q34.11(chr9:130390139-132760275) copy number loss not specified [RCV002052848] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_019594.4(LRRC8A):c.856G>A (p.Val286Met) single nucleotide variant not provided [RCV001947763] Chr9:128908020 [GRCh38]
Chr9:131670299 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.917G>A (p.Arg306His) single nucleotide variant not provided [RCV001892800] Chr9:128908081 [GRCh38]
Chr9:131670360 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1406C>T (p.Thr469Met) single nucleotide variant LRRC8A-related disorder [RCV003416607]|not provided [RCV001945605] Chr9:128908570 [GRCh38]
Chr9:131670849 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2030dup (p.Thr679fs) duplication not provided [RCV001877439] Chr9:128909193..128909194 [GRCh38]
Chr9:131671472..131671473 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2253C>T (p.Gly751=) single nucleotide variant not provided [RCV002000859] Chr9:128916191 [GRCh38]
Chr9:131678470 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_019594.4(LRRC8A):c.652C>T (p.Arg218Trp) single nucleotide variant not provided [RCV001884692]|not specified [RCV004041511] Chr9:128907816 [GRCh38]
Chr9:131670095 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2389G>A (p.Glu797Lys) single nucleotide variant not provided [RCV001898274]|not specified [RCV004641750] Chr9:128916327 [GRCh38]
Chr9:131678606 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1102G>A (p.Val368Ile) single nucleotide variant not provided [RCV001978776] Chr9:128908266 [GRCh38]
Chr9:131670545 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1798C>T (p.Arg600Cys) single nucleotide variant not provided [RCV001995845] Chr9:128908962 [GRCh38]
Chr9:131671241 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.877G>A (p.Val293Met) single nucleotide variant not provided [RCV001942832] Chr9:128908041 [GRCh38]
Chr9:131670320 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.784C>T (p.Arg262Cys) single nucleotide variant not provided [RCV001875149] Chr9:128907948 [GRCh38]
Chr9:131670227 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2294G>A (p.Arg765Gln) single nucleotide variant not provided [RCV001979080]|not specified [RCV004641824] Chr9:128916232 [GRCh38]
Chr9:131678511 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.103A>G (p.Met35Val) single nucleotide variant not provided [RCV001887476] Chr9:128907267 [GRCh38]
Chr9:131669546 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.407T>A (p.Phe136Tyr) single nucleotide variant not provided [RCV001883065] Chr9:128907571 [GRCh38]
Chr9:131669850 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.275C>T (p.Thr92Met) single nucleotide variant not provided [RCV001941495] Chr9:128907439 [GRCh38]
Chr9:131669718 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1483C>G (p.Leu495Val) single nucleotide variant not provided [RCV001887034] Chr9:128908647 [GRCh38]
Chr9:131670926 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2155C>T (p.Arg719Trp) single nucleotide variant not provided [RCV001943703] Chr9:128909319 [GRCh38]
Chr9:131671598 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2174C>T (p.Pro725Leu) single nucleotide variant not provided [RCV001977861] Chr9:128916112 [GRCh38]
Chr9:131678391 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1185G>A (p.Ser395=) single nucleotide variant not provided [RCV001867190] Chr9:128908349 [GRCh38]
Chr9:131670628 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_019594.4(LRRC8A):c.1498A>G (p.Ile500Val) single nucleotide variant not provided [RCV002013082] Chr9:128908662 [GRCh38]
Chr9:131670941 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.690C>T (p.Gly230=) single nucleotide variant not provided [RCV001916712] Chr9:128907854 [GRCh38]
Chr9:131670133 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_019594.4(LRRC8A):c.1698C>T (p.Gly566=) single nucleotide variant not provided [RCV002011422] Chr9:128908862 [GRCh38]
Chr9:131671141 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_019594.4(LRRC8A):c.1270G>A (p.Ala424Thr) single nucleotide variant not provided [RCV001875767] Chr9:128908434 [GRCh38]
Chr9:131670713 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2053C>T (p.Arg685Cys) single nucleotide variant not provided [RCV001920434] Chr9:128909217 [GRCh38]
Chr9:131671496 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.644C>G (p.Thr215Ser) single nucleotide variant not provided [RCV002028316] Chr9:128907808 [GRCh38]
Chr9:131670087 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.971_973del (p.Phe324del) deletion not provided [RCV001886386] Chr9:128908133..128908135 [GRCh38]
Chr9:131670412..131670414 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.100G>A (p.Val34Ile) single nucleotide variant not provided [RCV001953378]|not specified [RCV004043225] Chr9:128907264 [GRCh38]
Chr9:131669543 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.610G>C (p.Asp204His) single nucleotide variant not provided [RCV001884655] Chr9:128907774 [GRCh38]
Chr9:131670053 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.676C>T (p.Arg226Cys) single nucleotide variant not provided [RCV002030036] Chr9:128907840 [GRCh38]
Chr9:131670119 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1375G>A (p.Val459Met) single nucleotide variant not provided [RCV001938729] Chr9:128908539 [GRCh38]
Chr9:131670818 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2341C>T (p.Arg781Cys) single nucleotide variant not provided [RCV001936511] Chr9:128916279 [GRCh38]
Chr9:131678558 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1993G>C (p.Glu665Gln) single nucleotide variant not provided [RCV002011258] Chr9:128909157 [GRCh38]
Chr9:131671436 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.601G>A (p.Val201Ile) single nucleotide variant not provided [RCV001977372] Chr9:128907765 [GRCh38]
Chr9:131670044 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2423A>T (p.Glu808Val) single nucleotide variant not provided [RCV001884833] Chr9:128916361 [GRCh38]
Chr9:131678640 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1658G>A (p.Ser553Asn) single nucleotide variant not provided [RCV001870240] Chr9:128908822 [GRCh38]
Chr9:131671101 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.847G>A (p.Val283Ile) single nucleotide variant not provided [RCV001906818] Chr9:128908011 [GRCh38]
Chr9:131670290 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.263C>T (p.Pro88Leu) single nucleotide variant not provided [RCV001932815] Chr9:128907427 [GRCh38]
Chr9:131669706 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2347G>A (p.Gly783Ser) single nucleotide variant not provided [RCV001923934]|not specified [RCV004044240] Chr9:128916285 [GRCh38]
Chr9:131678564 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1585G>A (p.Ala529Thr) single nucleotide variant not provided [RCV002018617] Chr9:128908749 [GRCh38]
Chr9:131671028 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2023G>A (p.Glu675Lys) single nucleotide variant not provided [RCV002034451] Chr9:128909187 [GRCh38]
Chr9:131671466 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2214G>A (p.Leu738=) single nucleotide variant not provided [RCV001906361] Chr9:128916152 [GRCh38]
Chr9:131678431 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_019594.4(LRRC8A):c.2428_2429delinsAT (p.Ala810Ile) indel not provided [RCV001988961] Chr9:128916366..128916367 [GRCh38]
Chr9:131678645..131678646 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.88_90del (p.Tyr30del) deletion not provided [RCV001878265] Chr9:128907250..128907252 [GRCh38]
Chr9:131669529..131669531 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1037G>A (p.Arg346His) single nucleotide variant not provided [RCV001978863] Chr9:128908201 [GRCh38]
Chr9:131670480 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1461G>A (p.Ala487=) single nucleotide variant not provided [RCV001870400] Chr9:128908625 [GRCh38]
Chr9:131670904 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2423A>G (p.Glu808Gly) single nucleotide variant not provided [RCV001897223] Chr9:128916361 [GRCh38]
Chr9:131678640 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2234C>T (p.Ser745Leu) single nucleotide variant not provided [RCV001933193] Chr9:128916172 [GRCh38]
Chr9:131678451 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.208C>T (p.Arg70Trp) single nucleotide variant not provided [RCV001993816]|not specified [RCV004044672] Chr9:128907372 [GRCh38]
Chr9:131669651 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1009A>G (p.Met337Val) single nucleotide variant not provided [RCV001991453] Chr9:128908173 [GRCh38]
Chr9:131670452 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1818C>A (p.Ile606=) single nucleotide variant not provided [RCV002109821] Chr9:128908982 [GRCh38]
Chr9:131671261 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.982C>T (p.Leu328=) single nucleotide variant not provided [RCV002089287] Chr9:128908146 [GRCh38]
Chr9:131670425 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2323G>A (p.Glu775Lys) single nucleotide variant LRRC8A-related disorder [RCV003916361]|not provided [RCV002191253]|not specified [RCV004047106] Chr9:128916261 [GRCh38]
Chr9:131678540 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_019594.4(LRRC8A):c.33G>A (p.Ala11=) single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV002500247]|not provided [RCV002125910] Chr9:128907197 [GRCh38]
Chr9:131669476 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2103T>C (p.Pro701=) single nucleotide variant not provided [RCV002207345] Chr9:128909267 [GRCh38]
Chr9:131671546 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1647G>A (p.Leu549=) single nucleotide variant not provided [RCV002188057] Chr9:128908811 [GRCh38]
Chr9:131671090 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1581G>A (p.Leu527=) single nucleotide variant not provided [RCV002170309] Chr9:128908745 [GRCh38]
Chr9:131671024 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1227C>T (p.Asn409=) single nucleotide variant not provided [RCV002125071] Chr9:128908391 [GRCh38]
Chr9:131670670 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.1173C>T (p.Ala391=) single nucleotide variant not provided [RCV002190062] Chr9:128908337 [GRCh38]
Chr9:131670616 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1110C>T (p.Asn370=) single nucleotide variant not provided [RCV002148349] Chr9:128908274 [GRCh38]
Chr9:131670553 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.267C>T (p.Thr89=) single nucleotide variant LRRC8A-related disorder [RCV003923502]|not provided [RCV002188161] Chr9:128907431 [GRCh38]
Chr9:131669710 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_019594.4(LRRC8A):c.123C>T (p.Phe41=) single nucleotide variant not provided [RCV002207655] Chr9:128907287 [GRCh38]
Chr9:131669566 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.1728T>C (p.Asn576=) single nucleotide variant not provided [RCV002091315] Chr9:128908892 [GRCh38]
Chr9:131671171 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2391G>A (p.Glu797=) single nucleotide variant not provided [RCV002148443] Chr9:128916329 [GRCh38]
Chr9:131678608 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1614C>T (p.Asp538=) single nucleotide variant not provided [RCV002090007] Chr9:128908778 [GRCh38]
Chr9:131671057 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.66G>A (p.Pro22=) single nucleotide variant not provided [RCV002112184] Chr9:128907230 [GRCh38]
Chr9:131669509 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.517C>T (p.Leu173=) single nucleotide variant not provided [RCV002186605] Chr9:128907681 [GRCh38]
Chr9:131669960 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1386G>A (p.Pro462=) single nucleotide variant not provided [RCV002194072] Chr9:128908550 [GRCh38]
Chr9:131670829 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2277C>T (p.Ile759=) single nucleotide variant not provided [RCV002113193] Chr9:128916215 [GRCh38]
Chr9:131678494 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2148G>A (p.Thr716=) single nucleotide variant not provided [RCV002213621] Chr9:128909312 [GRCh38]
Chr9:131671591 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.597G>A (p.Ser199=) single nucleotide variant not provided [RCV002131519] Chr9:128907761 [GRCh38]
Chr9:131670040 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2214G>C (p.Leu738=) single nucleotide variant not provided [RCV002195257] Chr9:128916152 [GRCh38]
Chr9:131678431 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.846C>T (p.Thr282=) single nucleotide variant not provided [RCV002174006] Chr9:128908010 [GRCh38]
Chr9:131670289 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.624C>T (p.Thr208=) single nucleotide variant not provided [RCV002108413] Chr9:128907788 [GRCh38]
Chr9:131670067 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.579C>T (p.Ser193=) single nucleotide variant not provided [RCV002145340] Chr9:128907743 [GRCh38]
Chr9:131670022 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.453G>A (p.Ser151=) single nucleotide variant not provided [RCV002095989] Chr9:128907617 [GRCh38]
Chr9:131669896 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.939C>G (p.Pro313=) single nucleotide variant LRRC8A-related disorder [RCV003951221]|not provided [RCV002133388] Chr9:128908103 [GRCh38]
Chr9:131670382 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_019594.4(LRRC8A):c.966G>A (p.Ala322=) single nucleotide variant not provided [RCV002213135] Chr9:128908130 [GRCh38]
Chr9:131670409 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1440G>A (p.Ala480=) single nucleotide variant not provided [RCV002134262] Chr9:128908604 [GRCh38]
Chr9:131670883 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.657C>T (p.Ile219=) single nucleotide variant not provided [RCV002096531] Chr9:128907821 [GRCh38]
Chr9:131670100 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2388C>T (p.Pro796=) single nucleotide variant not provided [RCV002151703] Chr9:128916326 [GRCh38]
Chr9:131678605 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2107G>A (p.Asp703Asn) single nucleotide variant not provided [RCV001944950]|not specified [RCV004040375] Chr9:128909271 [GRCh38]
Chr9:131671550 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1524C>T (p.Ile508=) single nucleotide variant not provided [RCV002212103] Chr9:128908688 [GRCh38]
Chr9:131670967 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1269C>T (p.Asn423=) single nucleotide variant not provided [RCV002128426] Chr9:128908433 [GRCh38]
Chr9:131670712 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2043C>G (p.Leu681=) single nucleotide variant not provided [RCV002131381] Chr9:128909207 [GRCh38]
Chr9:131671486 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1611C>T (p.Ile537=) single nucleotide variant not provided [RCV002131735] Chr9:128908775 [GRCh38]
Chr9:131671054 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.552G>A (p.Lys184=) single nucleotide variant LRRC8A-related disorder [RCV003893149]|not provided [RCV002192468] Chr9:128907716 [GRCh38]
Chr9:131669995 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1182G>T (p.Leu394=) single nucleotide variant not provided [RCV002149788] Chr9:128908346 [GRCh38]
Chr9:131670625 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2271G>A (p.Thr757=) single nucleotide variant not provided [RCV002177117] Chr9:128916209 [GRCh38]
Chr9:131678488 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.873C>T (p.Phe291=) single nucleotide variant not provided [RCV002220191] Chr9:128908037 [GRCh38]
Chr9:131670316 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2010C>T (p.Asn670=) single nucleotide variant not provided [RCV002200658] Chr9:128909174 [GRCh38]
Chr9:131671453 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1455G>A (p.Ala485=) single nucleotide variant not provided [RCV002202678] Chr9:128908619 [GRCh38]
Chr9:131670898 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1236G>A (p.Thr412=) single nucleotide variant not provided [RCV002180199] Chr9:128908400 [GRCh38]
Chr9:131670679 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1773G>A (p.Ala591=) single nucleotide variant not provided [RCV002120656] Chr9:128908937 [GRCh38]
Chr9:131671216 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2238G>A (p.Leu746=) single nucleotide variant not provided [RCV002175387] Chr9:128916176 [GRCh38]
Chr9:131678455 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.144C>T (p.Thr48=) single nucleotide variant not provided [RCV002081411] Chr9:128907308 [GRCh38]
Chr9:131669587 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.99C>T (p.Ile33=) single nucleotide variant not provided [RCV002141685] Chr9:128907263 [GRCh38]
Chr9:131669542 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.543C>T (p.Ser181=) single nucleotide variant not provided [RCV002199379] Chr9:128907707 [GRCh38]
Chr9:131669986 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.48A>G (p.Ala16=) single nucleotide variant not provided [RCV002158102] Chr9:128907212 [GRCh38]
Chr9:131669491 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1047G>A (p.Lys349=) single nucleotide variant not provided [RCV002201973] Chr9:128908211 [GRCh38]
Chr9:131670490 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2401C>A (p.Arg801=) single nucleotide variant not provided [RCV002183008] Chr9:128916339 [GRCh38]
Chr9:131678618 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.189C>T (p.Asp63=) single nucleotide variant not provided [RCV002157687] Chr9:128907353 [GRCh38]
Chr9:131669632 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2157+12G>A single nucleotide variant not provided [RCV002121370] Chr9:128909333 [GRCh38]
Chr9:131671612 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2079C>T (p.Ser693=) single nucleotide variant not provided [RCV002220801] Chr9:128909243 [GRCh38]
Chr9:131671522 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.522G>A (p.Ser174=) single nucleotide variant not provided [RCV002119716] Chr9:128907686 [GRCh38]
Chr9:131669965 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.918C>T (p.Arg306=) single nucleotide variant not provided [RCV002118424] Chr9:128908082 [GRCh38]
Chr9:131670361 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.759T>C (p.His253=) single nucleotide variant not provided [RCV002122425] Chr9:128907923 [GRCh38]
Chr9:131670202 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.600C>T (p.Thr200=) single nucleotide variant not provided [RCV002218192] Chr9:128907764 [GRCh38]
Chr9:131670043 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2112C>T (p.Ile704=) single nucleotide variant not provided [RCV003112436] Chr9:128909276 [GRCh38]
Chr9:131671555 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1063T>A (p.Ser355Thr) single nucleotide variant not provided [RCV003114837] Chr9:128908227 [GRCh38]
Chr9:131670506 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1584C>T (p.Ser528=) single nucleotide variant not provided [RCV003115536] Chr9:128908748 [GRCh38]
Chr9:131671027 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2166G>A (p.Thr722=) single nucleotide variant not provided [RCV003117942] Chr9:128916104 [GRCh38]
Chr9:131678383 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.325G>T (p.Val109Leu) single nucleotide variant not provided [RCV003121289] Chr9:128907489 [GRCh38]
Chr9:131669768 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1985C>A (p.Thr662Asn) single nucleotide variant not provided [RCV003122087] Chr9:128909149 [GRCh38]
Chr9:131671428 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup duplication Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3		 uncertain significance
NM_019594.4(LRRC8A):c.1436C>T (p.Thr479Ile) single nucleotide variant not provided [RCV002302264] Chr9:128908600 [GRCh38]
Chr9:131670879 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.901A>C (p.Ser301Arg) single nucleotide variant not provided [RCV002303781] Chr9:128908065 [GRCh38]
Chr9:131670344 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1619T>C (p.Leu540Pro) single nucleotide variant not provided [RCV002299795] Chr9:128908783 [GRCh38]
Chr9:131671062 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2089C>G (p.Leu697Val) single nucleotide variant not provided [RCV002685586] Chr9:128909253 [GRCh38]
Chr9:131671532 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1734C>T (p.Gly578=) single nucleotide variant not provided [RCV002771541] Chr9:128908898 [GRCh38]
Chr9:131671177 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2054G>A (p.Arg685His) single nucleotide variant not provided [RCV003016205] Chr9:128909218 [GRCh38]
Chr9:131671497 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2203G>A (p.Ala735Thr) single nucleotide variant not provided [RCV002975545] Chr9:128916141 [GRCh38]
Chr9:131678420 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.126G>A (p.Gly42=) single nucleotide variant not provided [RCV002866026] Chr9:128907290 [GRCh38]
Chr9:131669569 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1600T>C (p.Tyr534His) single nucleotide variant not provided [RCV003016293] Chr9:128908764 [GRCh38]
Chr9:131671043 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2270C>T (p.Thr757Met) single nucleotide variant not provided [RCV002636155] Chr9:128916208 [GRCh38]
Chr9:131678487 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.39G>A (p.Thr13=) single nucleotide variant not provided [RCV002755961] Chr9:128907203 [GRCh38]
Chr9:131669482 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.174G>A (p.Lys58=) single nucleotide variant not provided [RCV002863853] Chr9:128907338 [GRCh38]
Chr9:131669617 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2126A>G (p.Asn709Ser) single nucleotide variant not provided [RCV002726439] Chr9:128909290 [GRCh38]
Chr9:131671569 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1996C>T (p.Arg666Cys) single nucleotide variant not provided [RCV002685990] Chr9:128909160 [GRCh38]
Chr9:131671439 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.456G>A (p.Lys152=) single nucleotide variant not provided [RCV002861661] Chr9:128907620 [GRCh38]
Chr9:131669899 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1593C>T (p.Asn531=) single nucleotide variant not provided [RCV002994823] Chr9:128908757 [GRCh38]
Chr9:131671036 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.908C>T (p.Thr303Met) single nucleotide variant not provided [RCV003075721]|not specified [RCV004071915] Chr9:128908072 [GRCh38]
Chr9:131670351 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2106C>T (p.Ala702=) single nucleotide variant not provided [RCV003033955] Chr9:128909270 [GRCh38]
Chr9:131671549 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2284C>G (p.Arg762Gly) single nucleotide variant not provided [RCV002999784] Chr9:128916222 [GRCh38]
Chr9:131678501 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2416G>A (p.Asp806Asn) single nucleotide variant not provided [RCV003018213] Chr9:128916354 [GRCh38]
Chr9:131678633 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2400G>A (p.Glu800=) single nucleotide variant LRRC8A-related disorder [RCV003953918]|not provided [RCV002619382] Chr9:128916338 [GRCh38]
Chr9:131678617 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1134C>T (p.Leu378=) single nucleotide variant not provided [RCV002695980] Chr9:128908298 [GRCh38]
Chr9:131670577 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2254G>A (p.Glu752Lys) single nucleotide variant not provided [RCV002800182] Chr9:128916192 [GRCh38]
Chr9:131678471 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1394T>C (p.Ile465Thr) single nucleotide variant not provided [RCV003730395]|not specified [RCV004243752] Chr9:128908558 [GRCh38]
Chr9:131670837 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1498A>C (p.Ile500Leu) single nucleotide variant not provided [RCV003080773] Chr9:128908662 [GRCh38]
Chr9:131670941 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.274A>G (p.Thr92Ala) single nucleotide variant not provided [RCV002975802] Chr9:128907438 [GRCh38]
Chr9:131669717 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1899C>G (p.Ile633Met) single nucleotide variant not provided [RCV002824891] Chr9:128909063 [GRCh38]
Chr9:131671342 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1948C>A (p.His650Asn) single nucleotide variant not provided [RCV002658728] Chr9:128909112 [GRCh38]
Chr9:131671391 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.441G>A (p.Pro147=) single nucleotide variant not provided [RCV002785441] Chr9:128907605 [GRCh38]
Chr9:131669884 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1702C>T (p.His568Tyr) single nucleotide variant not provided [RCV002820298] Chr9:128908866 [GRCh38]
Chr9:131671145 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.239C>T (p.Thr80Ile) single nucleotide variant not provided [RCV002756926]|not specified [RCV004064708] Chr9:128907403 [GRCh38]
Chr9:131669682 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.516C>T (p.Ala172=) single nucleotide variant not provided [RCV002760670] Chr9:128907680 [GRCh38]
Chr9:131669959 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1470C>T (p.Phe490=) single nucleotide variant not provided [RCV002952348] Chr9:128908634 [GRCh38]
Chr9:131670913 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.844A>G (p.Thr282Ala) single nucleotide variant not provided [RCV002867874] Chr9:128908008 [GRCh38]
Chr9:131670287 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.555G>C (p.Pro185=) single nucleotide variant not provided [RCV002639782] Chr9:128907719 [GRCh38]
Chr9:131669998 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.231G>A (p.Pro77=) single nucleotide variant not provided [RCV002622254] Chr9:128907395 [GRCh38]
Chr9:131669674 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1709A>G (p.Gln570Arg) single nucleotide variant not specified [RCV004130028] Chr9:128908873 [GRCh38]
Chr9:131671152 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.752G>A (p.Arg251Gln) single nucleotide variant not provided [RCV002958440] Chr9:128907916 [GRCh38]
Chr9:131670195 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2412G>A (p.Arg804=) single nucleotide variant not provided [RCV002575304] Chr9:128916350 [GRCh38]
Chr9:131678629 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.120C>T (p.Val40=) single nucleotide variant not provided [RCV002982918] Chr9:128907284 [GRCh38]
Chr9:131669563 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1131C>T (p.His377=) single nucleotide variant not provided [RCV002645628] Chr9:128908295 [GRCh38]
Chr9:131670574 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.677G>A (p.Arg226His) single nucleotide variant not provided [RCV002700789] Chr9:128907841 [GRCh38]
Chr9:131670120 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.984A>C (p.Leu328=) single nucleotide variant not provided [RCV002871980] Chr9:128908148 [GRCh38]
Chr9:131670427 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.557C>G (p.Ala186Gly) single nucleotide variant not provided [RCV002572509] Chr9:128907721 [GRCh38]
Chr9:131670000 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1248C>T (p.Leu416=) single nucleotide variant not provided [RCV002894240] Chr9:128908412 [GRCh38]
Chr9:131670691 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.465C>T (p.His155=) single nucleotide variant not provided [RCV002919104] Chr9:128907629 [GRCh38]
Chr9:131669908 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.209G>A (p.Arg70Gln) single nucleotide variant LRRC8A-related disorder [RCV003404052]|not provided [RCV003083267] Chr9:128907373 [GRCh38]
Chr9:131669652 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.469G>A (p.Val157Met) single nucleotide variant not provided [RCV002575273] Chr9:128907633 [GRCh38]
Chr9:131669912 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2184C>T (p.Phe728=) single nucleotide variant not provided [RCV002700758] Chr9:128916122 [GRCh38]
Chr9:131678401 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.230C>T (p.Pro77Leu) single nucleotide variant not provided [RCV002625666] Chr9:128907394 [GRCh38]
Chr9:131669673 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1439C>T (p.Ala480Val) single nucleotide variant not specified [RCV004077234] Chr9:128908603 [GRCh38]
Chr9:131670882 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1056G>C (p.Ser352=) single nucleotide variant not provided [RCV002829669] Chr9:128908220 [GRCh38]
Chr9:131670499 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.631A>G (p.Met211Val) single nucleotide variant not provided [RCV002623844] Chr9:128907795 [GRCh38]
Chr9:131670074 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1746C>T (p.Ile582=) single nucleotide variant not provided [RCV002643914] Chr9:128908910 [GRCh38]
Chr9:131671189 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.939C>A (p.Pro313=) single nucleotide variant not provided [RCV003060051] Chr9:128908103 [GRCh38]
Chr9:131670382 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1235C>T (p.Thr412Met) single nucleotide variant not provided [RCV002580770] Chr9:128908399 [GRCh38]
Chr9:131670678 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2241C>T (p.Pro747=) single nucleotide variant not provided [RCV003031532] Chr9:128916179 [GRCh38]
Chr9:131678458 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.726G>A (p.Ala242=) single nucleotide variant not provided [RCV002646222] Chr9:128907890 [GRCh38]
Chr9:131670169 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.369G>A (p.Lys123=) single nucleotide variant not provided [RCV002576875] Chr9:128907533 [GRCh38]
Chr9:131669812 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1527G>A (p.Pro509=) single nucleotide variant not provided [RCV002671229] Chr9:128908691 [GRCh38]
Chr9:131670970 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.581T>C (p.Met194Thr) single nucleotide variant not provided [RCV003011170]|not specified [RCV004068437] Chr9:128907745 [GRCh38]
Chr9:131670024 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.903C>T (p.Ser301=) single nucleotide variant not provided [RCV003028254] Chr9:128908067 [GRCh38]
Chr9:131670346 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.211G>C (p.Gly71Arg) single nucleotide variant not provided [RCV002715186] Chr9:128907375 [GRCh38]
Chr9:131669654 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.442C>T (p.Arg148Cys) single nucleotide variant not provided [RCV002671945] Chr9:128907606 [GRCh38]
Chr9:131669885 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2401C>T (p.Arg801Trp) single nucleotide variant not provided [RCV003087352]|not specified [RCV004073336] Chr9:128916339 [GRCh38]
Chr9:131678618 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.933C>T (p.Ala311=) single nucleotide variant not provided [RCV003010485] Chr9:128908097 [GRCh38]
Chr9:131670376 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.292A>C (p.Lys98Gln) single nucleotide variant not provided [RCV002807282] Chr9:128907456 [GRCh38]
Chr9:131669735 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1228G>A (p.Glu410Lys) single nucleotide variant not specified [RCV004127555] Chr9:128908392 [GRCh38]
Chr9:131670671 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2158-9T>C single nucleotide variant not provided [RCV003009491] Chr9:128916087 [GRCh38]
Chr9:131678366 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1507A>G (p.Thr503Ala) single nucleotide variant not provided [RCV002602402] Chr9:128908671 [GRCh38]
Chr9:131670950 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.575G>A (p.Gly192Glu) single nucleotide variant not provided [RCV002715498] Chr9:128907739 [GRCh38]
Chr9:131670018 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.443G>A (p.Arg148His) single nucleotide variant not provided [RCV002605131]|not specified [RCV004065863] Chr9:128907607 [GRCh38]
Chr9:131669886 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.211G>A (p.Gly71Ser) single nucleotide variant not provided [RCV003092590]|not specified [RCV004636654] Chr9:128907375 [GRCh38]
Chr9:131669654 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1649G>A (p.Arg550Gln) single nucleotide variant not provided [RCV002585644] Chr9:128908813 [GRCh38]
Chr9:131671092 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2379A>G (p.Thr793=) single nucleotide variant not provided [RCV002814821] Chr9:128916317 [GRCh38]
Chr9:131678596 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.493G>A (p.Asp165Asn) single nucleotide variant not provided [RCV002943598] Chr9:128907657 [GRCh38]
Chr9:131669936 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1379C>A (p.Thr460Asn) single nucleotide variant not provided [RCV003093253] Chr9:128908543 [GRCh38]
Chr9:131670822 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2158-7C>G single nucleotide variant not provided [RCV002586005] Chr9:128916089 [GRCh38]
Chr9:131678368 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1488G>A (p.Arg496=) single nucleotide variant not provided [RCV002588205] Chr9:128908652 [GRCh38]
Chr9:131670931 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.351A>C (p.Arg117=) single nucleotide variant not provided [RCV002607163] Chr9:128907515 [GRCh38]
Chr9:131669794 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1170C>T (p.Phe390=) single nucleotide variant not provided [RCV002613069] Chr9:128908334 [GRCh38]
Chr9:131670613 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1428C>T (p.Leu476=) single nucleotide variant not provided [RCV002608478] Chr9:128908592 [GRCh38]
Chr9:131670871 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.245C>T (p.Pro82Leu) single nucleotide variant not specified [RCV004278843] Chr9:128907409 [GRCh38]
Chr9:131669688 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.199G>T (p.Asp67Tyr) single nucleotide variant not specified [RCV004279005] Chr9:128907363 [GRCh38]
Chr9:131669642 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.104T>A (p.Met35Lys) single nucleotide variant not provided [RCV003852726] Chr9:128907268 [GRCh38]
Chr9:131669547 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1564C>T (p.His522Tyr) single nucleotide variant not specified [RCV004355977] Chr9:128908728 [GRCh38]
Chr9:131671007 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1409G>C (p.Gly470Ala) single nucleotide variant not provided [RCV003543436] Chr9:128908573 [GRCh38]
Chr9:131670852 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2068C>A (p.Leu690Met) single nucleotide variant not provided [RCV003571129] Chr9:128909232 [GRCh38]
Chr9:131671511 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1312A>G (p.Ile438Val) single nucleotide variant not provided [RCV003691290] Chr9:128908476 [GRCh38]
Chr9:131670755 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.653G>A (p.Arg218Gln) single nucleotide variant LRRC8A-related disorder [RCV003399576] Chr9:128907817 [GRCh38]
Chr9:131670096 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1490C>T (p.Ala497Val) single nucleotide variant not provided [RCV003660021] Chr9:128908654 [GRCh38]
Chr9:131670933 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1636C>A (p.Leu546Ile) single nucleotide variant not provided [RCV003695787] Chr9:128908800 [GRCh38]
Chr9:131671079 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.237C>T (p.Pro79=) single nucleotide variant not provided [RCV003831710] Chr9:128907401 [GRCh38]
Chr9:131669680 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1023G>T (p.Trp341Cys) single nucleotide variant not provided [RCV003880065] Chr9:128908187 [GRCh38]
Chr9:131670466 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2358G>A (p.Val786=) single nucleotide variant not provided [RCV003739349] Chr9:128916296 [GRCh38]
Chr9:131678575 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2158-9T>G single nucleotide variant not provided [RCV003660463] Chr9:128916087 [GRCh38]
Chr9:131678366 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.515C>T (p.Ala172Val) single nucleotide variant not provided [RCV003546375] Chr9:128907679 [GRCh38]
Chr9:131669958 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2055C>G (p.Arg685=) single nucleotide variant not provided [RCV003829407] Chr9:128909219 [GRCh38]
Chr9:131671498 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1755C>T (p.Asn585=) single nucleotide variant not provided [RCV003695556] Chr9:128908919 [GRCh38]
Chr9:131671198 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.286G>A (p.Gly96Ser) single nucleotide variant not provided [RCV003660006] Chr9:128907450 [GRCh38]
Chr9:131669729 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2192G>A (p.Arg731Gln) single nucleotide variant not provided [RCV003571854] Chr9:128916130 [GRCh38]
Chr9:131678409 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.772G>T (p.Asp258Tyr) single nucleotide variant not provided [RCV003690440] Chr9:128907936 [GRCh38]
Chr9:131670215 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2432G>A (p.Ter811=) single nucleotide variant not provided [RCV003663462] Chr9:128916370 [GRCh38]
Chr9:131678649 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.-2C>T single nucleotide variant Agammaglobulinemia 5, autosomal dominant [RCV003604606]|LRRC8A-related disorder [RCV003929344] Chr9:128907163 [GRCh38]
Chr9:131669442 [GRCh37]
Chr9:9q34.11		 benign
NM_019594.4(LRRC8A):c.399G>A (p.Thr133=) single nucleotide variant not provided [RCV003829354] Chr9:128907563 [GRCh38]
Chr9:131669842 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1795A>G (p.Ile599Val) single nucleotide variant not provided [RCV003830305] Chr9:128908959 [GRCh38]
Chr9:131671238 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.315G>A (p.Gln105=) single nucleotide variant not provided [RCV003696187] Chr9:128907479 [GRCh38]
Chr9:131669758 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.44C>T (p.Pro15Leu) single nucleotide variant not provided [RCV003575364] Chr9:128907208 [GRCh38]
Chr9:131669487 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.355C>T (p.His119Tyr) single nucleotide variant not provided [RCV003693049] Chr9:128907519 [GRCh38]
Chr9:131669798 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.228C>T (p.Gly76=) single nucleotide variant not provided [RCV003574439] Chr9:128907392 [GRCh38]
Chr9:131669671 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.341A>G (p.Tyr114Cys) single nucleotide variant not provided [RCV003574005] Chr9:128907505 [GRCh38]
Chr9:131669784 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1813C>T (p.Arg605Cys) single nucleotide variant not provided [RCV003882443] Chr9:128908977 [GRCh38]
Chr9:131671256 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.132G>A (p.Thr44=) single nucleotide variant not provided [RCV003825430] Chr9:128907296 [GRCh38]
Chr9:131669575 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.336G>A (p.Val112=) single nucleotide variant not provided [RCV003693334] Chr9:128907500 [GRCh38]
Chr9:131669779 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.605G>A (p.Ser202Asn) single nucleotide variant not provided [RCV003715908] Chr9:128907769 [GRCh38]
Chr9:131670048 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.554C>T (p.Pro185Leu) single nucleotide variant not provided [RCV003851186] Chr9:128907718 [GRCh38]
Chr9:131669997 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.780G>A (p.Val260=) single nucleotide variant not provided [RCV003664742] Chr9:128907944 [GRCh38]
Chr9:131670223 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1579C>T (p.Leu527=) single nucleotide variant not provided [RCV003664819] Chr9:128908743 [GRCh38]
Chr9:131671022 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1648C>T (p.Arg550Trp) single nucleotide variant not provided [RCV003836325] Chr9:128908812 [GRCh38]
Chr9:131671091 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2425C>A (p.Gln809Lys) single nucleotide variant not provided [RCV003558058] Chr9:128916363 [GRCh38]
Chr9:131678642 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1799G>A (p.Arg600His) single nucleotide variant not provided [RCV003724307] Chr9:128908963 [GRCh38]
Chr9:131671242 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2114G>A (p.Gly705Asp) single nucleotide variant not provided [RCV003674237] Chr9:128909278 [GRCh38]
Chr9:131671557 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1885A>G (p.Ile629Val) single nucleotide variant not provided [RCV003723326] Chr9:128909049 [GRCh38]
Chr9:131671328 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2054G>T (p.Arg685Leu) single nucleotide variant not specified [RCV004415840] Chr9:128909218 [GRCh38]
Chr9:131671497 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1833C>T (p.Phe611=) single nucleotide variant not provided [RCV003817307] Chr9:128908997 [GRCh38]
Chr9:131671276 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.888C>G (p.Thr296=) single nucleotide variant not provided [RCV003851531] Chr9:128908052 [GRCh38]
Chr9:131670331 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1530G>C (p.Leu510=) single nucleotide variant not provided [RCV003664579] Chr9:128908694 [GRCh38]
Chr9:131670973 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1950C>G (p.His650Gln) single nucleotide variant not specified [RCV004415839] Chr9:128909114 [GRCh38]
Chr9:131671393 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1349T>C (p.Val450Ala) single nucleotide variant not provided [RCV003561575] Chr9:128908513 [GRCh38]
Chr9:131670792 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1782T>C (p.Thr594=) single nucleotide variant not provided [RCV003849800] Chr9:128908946 [GRCh38]
Chr9:131671225 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1155C>G (p.Leu385=) single nucleotide variant not provided [RCV003851532] Chr9:128908319 [GRCh38]
Chr9:131670598 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2167C>G (p.Leu723Val) single nucleotide variant not provided [RCV003669900] Chr9:128916105 [GRCh38]
Chr9:131678384 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.330C>T (p.Asp110=) single nucleotide variant not provided [RCV003725632] Chr9:128907494 [GRCh38]
Chr9:131669773 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1397C>T (p.Ala466Val) single nucleotide variant not provided [RCV003854837] Chr9:128908561 [GRCh38]
Chr9:131670840 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1171dup (p.Ala391fs) duplication not provided [RCV003561479] Chr9:128908334..128908335 [GRCh38]
Chr9:131670613..131670614 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1454C>T (p.Ala485Val) single nucleotide variant not provided [RCV003559052] Chr9:128908618 [GRCh38]
Chr9:131670897 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2240C>T (p.Pro747Leu) single nucleotide variant not provided [RCV003840249] Chr9:128916178 [GRCh38]
Chr9:131678457 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.9G>A (p.Pro3=) single nucleotide variant not provided [RCV003855065] Chr9:128907173 [GRCh38]
Chr9:131669452 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1572G>A (p.Thr524=) single nucleotide variant not provided [RCV003717843] Chr9:128908736 [GRCh38]
Chr9:131671015 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1974C>G (p.Ile658Met) single nucleotide variant not provided [RCV003851860] Chr9:128909138 [GRCh38]
Chr9:131671417 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1528C>T (p.Leu510=) single nucleotide variant not provided [RCV003849799] Chr9:128908692 [GRCh38]
Chr9:131670971 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.325G>A (p.Val109Met) single nucleotide variant not provided [RCV003850584] Chr9:128907489 [GRCh38]
Chr9:131669768 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.38C>T (p.Thr13Met) single nucleotide variant not provided [RCV003852570] Chr9:128907202 [GRCh38]
Chr9:131669481 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.217G>T (p.Ala73Ser) single nucleotide variant not provided [RCV003671952] Chr9:128907381 [GRCh38]
Chr9:131669660 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.204G>A (p.Ser68=) single nucleotide variant not provided [RCV003579839] Chr9:128907368 [GRCh38]
Chr9:131669647 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1979A>G (p.Asn660Ser) single nucleotide variant not provided [RCV003663864] Chr9:128909143 [GRCh38]
Chr9:131671422 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1262C>G (p.Thr421Ser) single nucleotide variant not provided [RCV003664631] Chr9:128908426 [GRCh38]
Chr9:131670705 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.691G>A (p.Val231Met) single nucleotide variant not provided [RCV003548778] Chr9:128907855 [GRCh38]
Chr9:131670134 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1278C>T (p.Asp426=) single nucleotide variant not provided [RCV003677108] Chr9:128908442 [GRCh38]
Chr9:131670721 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.755C>A (p.Thr252Asn) single nucleotide variant not provided [RCV003845530] Chr9:128907919 [GRCh38]
Chr9:131670198 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1098C>T (p.Pro366=) single nucleotide variant not provided [RCV003823952] Chr9:128908262 [GRCh38]
Chr9:131670541 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.23G>A (p.Arg8His) single nucleotide variant not provided [RCV003711350] Chr9:128907187 [GRCh38]
Chr9:131669466 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1848G>A (p.Leu616=) single nucleotide variant not provided [RCV003857691] Chr9:128909012 [GRCh38]
Chr9:131671291 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1491G>A (p.Ala497=) single nucleotide variant not provided [RCV003553546] Chr9:128908655 [GRCh38]
Chr9:131670934 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.916C>T (p.Arg306Cys) single nucleotide variant not provided [RCV003821781] Chr9:128908080 [GRCh38]
Chr9:131670359 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1152G>A (p.Pro384=) single nucleotide variant not provided [RCV003848820] Chr9:128908316 [GRCh38]
Chr9:131670595 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2183T>G (p.Phe728Cys) single nucleotide variant not provided [RCV003564171] Chr9:128916121 [GRCh38]
Chr9:131678400 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1605C>T (p.Ile535=) single nucleotide variant not provided [RCV003681674] Chr9:128908769 [GRCh38]
Chr9:131671048 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.389T>C (p.Leu130Pro) single nucleotide variant not provided [RCV003685107] Chr9:128907553 [GRCh38]
Chr9:131669832 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1074G>A (p.Glu358=) single nucleotide variant not provided [RCV003861204] Chr9:128908238 [GRCh38]
Chr9:131670517 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1665A>G (p.Leu555=) single nucleotide variant not provided [RCV003732973] Chr9:128908829 [GRCh38]
Chr9:131671108 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2288G>C (p.Gly763Ala) single nucleotide variant not provided [RCV003733254] Chr9:128916226 [GRCh38]
Chr9:131678505 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.253A>T (p.Thr85Ser) single nucleotide variant not provided [RCV003682667] Chr9:128907417 [GRCh38]
Chr9:131669696 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1310G>A (p.Gly437Asp) single nucleotide variant not provided [RCV003680945] Chr9:128908474 [GRCh38]
Chr9:131670753 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1050G>A (p.Lys350=) single nucleotide variant not provided [RCV003721239] Chr9:128908214 [GRCh38]
Chr9:131670493 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.605G>T (p.Ser202Ile) single nucleotide variant not provided [RCV003554607] Chr9:128907769 [GRCh38]
Chr9:131670048 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1116C>T (p.Phe372=) single nucleotide variant not provided [RCV003720023] Chr9:128908280 [GRCh38]
Chr9:131670559 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.234G>A (p.Glu78=) single nucleotide variant not provided [RCV003707081] Chr9:128907398 [GRCh38]
Chr9:131669677 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2176G>A (p.Glu726Lys) single nucleotide variant not provided [RCV003844371] Chr9:128916114 [GRCh38]
Chr9:131678393 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.797G>A (p.Arg266Gln) single nucleotide variant not provided [RCV003730690] Chr9:128907961 [GRCh38]
Chr9:131670240 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2073C>T (p.Asp691=) single nucleotide variant not provided [RCV003860731] Chr9:128909237 [GRCh38]
Chr9:131671516 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1887C>T (p.Ile629=) single nucleotide variant not provided [RCV003852978] Chr9:128909051 [GRCh38]
Chr9:131671330 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.396C>T (p.His132=) single nucleotide variant not provided [RCV003704914] Chr9:128907560 [GRCh38]
Chr9:131669839 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.402C>T (p.Leu134=) single nucleotide variant not provided [RCV003722764] Chr9:128907566 [GRCh38]
Chr9:131669845 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1704C>T (p.His568=) single nucleotide variant not provided [RCV003820938] Chr9:128908868 [GRCh38]
Chr9:131671147 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.382C>G (p.Leu128Val) single nucleotide variant not provided [RCV003552012] Chr9:128907546 [GRCh38]
Chr9:131669825 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1460C>T (p.Ala487Val) single nucleotide variant not provided [RCV003843771] Chr9:128908624 [GRCh38]
Chr9:131670903 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.861C>T (p.His287=) single nucleotide variant not provided [RCV003682925] Chr9:128908025 [GRCh38]
Chr9:131670304 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1137T>A (p.Ile379=) single nucleotide variant not provided [RCV003860607] Chr9:128908301 [GRCh38]
Chr9:131670580 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1791G>T (p.Glu597Asp) single nucleotide variant not provided [RCV003564439] Chr9:128908955 [GRCh38]
Chr9:131671234 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1374C>T (p.Asp458=) single nucleotide variant not provided [RCV003732224] Chr9:128908538 [GRCh38]
Chr9:131670817 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.909G>A (p.Thr303=) single nucleotide variant not provided [RCV003821796] Chr9:128908073 [GRCh38]
Chr9:131670352 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.1962C>T (p.Ile654=) single nucleotide variant not provided [RCV003819202] Chr9:128909126 [GRCh38]
Chr9:131671405 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.2156G>A (p.Arg719Gln) single nucleotide variant not provided [RCV003731333] Chr9:128909320 [GRCh38]
Chr9:131671599 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1603A>G (p.Ile535Val) single nucleotide variant not provided [RCV003845445] Chr9:128908767 [GRCh38]
Chr9:131671046 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.829C>T (p.Leu277Phe) single nucleotide variant not provided [RCV003677479] Chr9:128907993 [GRCh38]
Chr9:131670272 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.874G>A (p.Asp292Asn) single nucleotide variant not provided [RCV003553583] Chr9:128908038 [GRCh38]
Chr9:131670317 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1035G>A (p.Arg345=) single nucleotide variant not provided [RCV003863695] Chr9:128908199 [GRCh38]
Chr9:131670478 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.708G>A (p.Glu236=) single nucleotide variant not provided [RCV003858642] Chr9:128907872 [GRCh38]
Chr9:131670151 [GRCh37]
Chr9:9q34.11		 likely benign
NM_019594.4(LRRC8A):c.785G>A (p.Arg262His) single nucleotide variant not provided [RCV003731504] Chr9:128907949 [GRCh38]
Chr9:131670228 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1141C>A (p.Gln381Lys) single nucleotide variant not provided [RCV003859002] Chr9:128908305 [GRCh38]
Chr9:131670584 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2247G>C (p.Arg749Ser) single nucleotide variant not specified [RCV004415841] Chr9:128916185 [GRCh38]
Chr9:131678464 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1702C>A (p.His568Asn) single nucleotide variant not specified [RCV004415837] Chr9:128908866 [GRCh38]
Chr9:131671145 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1925C>T (p.Thr642Ile) single nucleotide variant not specified [RCV004415838] Chr9:128909089 [GRCh38]
Chr9:131671368 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.284C>T (p.Thr95Ile) single nucleotide variant not specified [RCV004415842] Chr9:128907448 [GRCh38]
Chr9:131669727 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.767A>C (p.Glu256Ala) single nucleotide variant not specified [RCV004415843] Chr9:128907931 [GRCh38]
Chr9:131670210 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.1418A>T (p.Glu473Val) single nucleotide variant not provided [RCV003887660] Chr9:128908582 [GRCh38]
Chr9:131670861 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_130216807)_(133557056_?)dup duplication Dystonic disorder [RCV004581825] Chr9:130216807..133557056 [GRCh37]
Chr9:9q33.3-34.12		 uncertain significance
NC_000009.11:g.(?_131346980)_(135942612_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV004581884] Chr9:131346980..135942612 [GRCh37]
Chr9:9q34.11-34.2		 uncertain significance
NC_000009.11:g.(?_131678355)_(140095163_?)dup duplication not provided [RCV004582063] Chr9:131678355..140095163 [GRCh37]
Chr9:9q34.11-34.3		 uncertain significance
NM_019594.4(LRRC8A):c.2161G>A (p.Glu721Lys) single nucleotide variant not specified [RCV004644836] Chr9:128916099 [GRCh38]
Chr9:131678378 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_019594.4(LRRC8A):c.2284C>T (p.Arg762Trp) single nucleotide variant not specified [RCV004644837] Chr9:128916222 [GRCh38]
Chr9:131678501 [GRCh37]
Chr9:9q34.11		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1Mirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)15685193

Predicted Target Of
Summary Value
Count of predictions:3429
Count of miRNA genes:838
Interacting mature miRNAs:990
Transcripts:ENST00000259324, ENST00000372599, ENST00000372600, ENST00000483638, ENST00000492784
Prediction methods:Microtar, 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
RH102979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,679,138 - 131,679,285UniSTSGRCh37
Build 369130,718,959 - 130,719,106RGDNCBI36
Celera9102,330,970 - 102,331,117RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,286,823 - 101,286,970UniSTS
GeneMap99-GB4 RH Map9394.37UniSTS
STS-D29325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,680,146 - 131,680,285UniSTSGRCh37
Build 369130,719,967 - 130,720,106RGDNCBI36
Celera9102,331,980 - 102,332,119RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,287,833 - 101,287,972UniSTS
GeneMap99-GB4 RH Map9391.94UniSTS
SGC34869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,680,172 - 131,680,301UniSTSGRCh37
Build 369130,719,993 - 130,720,122RGDNCBI36
Celera9102,332,006 - 102,332,135RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,287,859 - 101,287,988UniSTS
GeneMap99-GB4 RH Map9394.37UniSTS
Whitehead-RH Map9473.9UniSTS
D13S1783  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.11UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4949 1723 2347 5 622 1948 464 2268 7284 6457 52 3715 848 1735 1613 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL672142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY143166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX376144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA446287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA243590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000259324   ⟹   ENSP00000259324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,882,502 - 128,918,034 (+)Ensembl
Ensembl Acc Id: ENST00000372599   ⟹   ENSP00000361680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,882,196 - 128,918,036 (+)Ensembl
Ensembl Acc Id: ENST00000372600   ⟹   ENSP00000361682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,882,133 - 128,918,039 (+)Ensembl
Ensembl Acc Id: ENST00000483638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,884,995 - 128,886,090 (+)Ensembl
Ensembl Acc Id: ENST00000492784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,912,744 - 128,916,739 (+)Ensembl
RefSeq Acc Id: NM_001127244   ⟹   NP_001120716
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,882,634 - 128,918,039 (+)NCBI
GRCh379131,644,391 - 131,680,318 (+)RGD
Celera9102,296,285 - 102,332,152 (+)RGD
HuRef9101,252,498 - 101,288,005 (+)RGD
CHM1_19131,795,761 - 131,831,304 (+)NCBI
T2T-CHM13v2.09141,087,381 - 141,122,794 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127245   ⟹   NP_001120717
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,882,133 - 128,918,039 (+)NCBI
GRCh379131,644,391 - 131,680,318 (+)RGD
Celera9102,296,285 - 102,332,152 (+)RGD
HuRef9101,252,498 - 101,288,005 (+)RGD
CHM1_19131,795,371 - 131,831,304 (+)NCBI
T2T-CHM13v2.09141,086,880 - 141,122,794 (+)NCBI
Sequence:
RefSeq Acc Id: NM_019594   ⟹   NP_062540
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,882,133 - 128,918,039 (+)NCBI
GRCh379131,644,391 - 131,680,318 (+)RGD
Build 369130,684,268 - 130,720,136 (+)NCBI Archive
Celera9102,296,285 - 102,332,152 (+)RGD
HuRef9101,252,498 - 101,288,005 (+)RGD
CHM1_19131,795,371 - 131,831,304 (+)NCBI
T2T-CHM13v2.09141,086,880 - 141,122,794 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005252095   ⟹   XP_005252152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,882,634 - 128,918,039 (+)NCBI
GRCh379131,644,391 - 131,680,318 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005252096   ⟹   XP_005252153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,882,634 - 128,918,039 (+)NCBI
GRCh379131,644,391 - 131,680,318 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717186   ⟹   XP_006717249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,882,634 - 128,918,039 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518863   ⟹   XP_011517165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,882,949 - 128,918,039 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518864   ⟹   XP_011517166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,882,133 - 128,918,039 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423595   ⟹   XP_047279551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,883,955 - 128,918,039 (+)NCBI
RefSeq Acc Id: XM_047423596   ⟹   XP_047279552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,882,133 - 128,918,039 (+)NCBI
RefSeq Acc Id: XM_047423597   ⟹   XP_047279553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,882,133 - 128,918,039 (+)NCBI
RefSeq Acc Id: XM_047423598   ⟹   XP_047279554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,883,954 - 128,918,039 (+)NCBI
RefSeq Acc Id: XM_047423599   ⟹   XP_047279555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,882,634 - 128,918,039 (+)NCBI
RefSeq Acc Id: XM_047423600   ⟹   XP_047279556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,884,372 - 128,918,039 (+)NCBI
RefSeq Acc Id: XM_047423601   ⟹   XP_047279557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,882,634 - 128,918,039 (+)NCBI
RefSeq Acc Id: XM_054363290   ⟹   XP_054219265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,087,245 - 141,122,794 (+)NCBI
RefSeq Acc Id: XM_054363291   ⟹   XP_054219266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,088,702 - 141,122,794 (+)NCBI
RefSeq Acc Id: XM_054363292   ⟹   XP_054219267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,087,694 - 141,122,794 (+)NCBI
RefSeq Acc Id: XM_054363293   ⟹   XP_054219268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,087,381 - 141,122,794 (+)NCBI
RefSeq Acc Id: XM_054363294   ⟹   XP_054219269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,087,245 - 141,122,794 (+)NCBI
RefSeq Acc Id: XM_054363295   ⟹   XP_054219270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,086,880 - 141,122,794 (+)NCBI
RefSeq Acc Id: XM_054363296   ⟹   XP_054219271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,086,880 - 141,122,794 (+)NCBI
RefSeq Acc Id: XM_054363297   ⟹   XP_054219272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,086,880 - 141,122,794 (+)NCBI
RefSeq Acc Id: XM_054363298   ⟹   XP_054219273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,088,701 - 141,122,794 (+)NCBI
RefSeq Acc Id: XM_054363299   ⟹   XP_054219274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,087,381 - 141,122,794 (+)NCBI
RefSeq Acc Id: XM_054363300   ⟹   XP_054219275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,089,119 - 141,122,794 (+)NCBI
RefSeq Acc Id: XM_054363301   ⟹   XP_054219276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,087,381 - 141,122,794 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001120716 (Get FASTA)   NCBI Sequence Viewer  
  NP_001120717 (Get FASTA)   NCBI Sequence Viewer  
  NP_062540 (Get FASTA)   NCBI Sequence Viewer  
  XP_005252152 (Get FASTA)   NCBI Sequence Viewer  
  XP_005252153 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717249 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517165 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517166 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279551 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279552 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279553 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279554 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279555 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279556 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279557 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219265 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219266 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219267 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219268 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219269 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219270 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219271 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219272 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219273 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219274 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219275 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219276 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH51322 (Get FASTA)   NCBI Sequence Viewer  
  AAN18279 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88653 (Get FASTA)   NCBI Sequence Viewer  
  BAA91549 (Get FASTA)   NCBI Sequence Viewer  
  BAA92675 (Get FASTA)   NCBI Sequence Viewer  
  BAB55153 (Get FASTA)   NCBI Sequence Viewer  
  BAC11161 (Get FASTA)   NCBI Sequence Viewer  
  BAF82531 (Get FASTA)   NCBI Sequence Viewer  
  EAW87842 (Get FASTA)   NCBI Sequence Viewer  
  EAW87843 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000259324
  ENSP00000259324.5
  ENSP00000361680
  ENSP00000361680.3
  ENSP00000361682
  ENSP00000361682.4
GenBank Protein Q8IWT6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_062540   ⟸   NM_019594
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001120717   ⟸   NM_001127245
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001120716   ⟸   NM_001127244
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005252152   ⟸   XM_005252095
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005252153   ⟸   XM_005252096
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006717249   ⟸   XM_006717186
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011517166   ⟸   XM_011518864
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011517165   ⟸   XM_011518863
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000361680   ⟸   ENST00000372599
Ensembl Acc Id: ENSP00000361682   ⟸   ENST00000372600
Ensembl Acc Id: ENSP00000259324   ⟸   ENST00000259324
RefSeq Acc Id: XP_047279552   ⟸   XM_047423596
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279553   ⟸   XM_047423597
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279557   ⟸   XM_047423601
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279555   ⟸   XM_047423599
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279554   ⟸   XM_047423598
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279551   ⟸   XM_047423595
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279556   ⟸   XM_047423600
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219271   ⟸   XM_054363296
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219272   ⟸   XM_054363297
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219270   ⟸   XM_054363295
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219265   ⟸   XM_054363290
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219269   ⟸   XM_054363294
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219268   ⟸   XM_054363293
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219276   ⟸   XM_054363301
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219274   ⟸   XM_054363299
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219267   ⟸   XM_054363292
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219273   ⟸   XM_054363298
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219266   ⟸   XM_054363291
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219275   ⟸   XM_054363300
- Peptide Label: isoform X1
- UniProtKB: Q8NCI0 (UniProtKB/Swiss-Prot),   Q8IWT6 (UniProtKB/Swiss-Prot),   Q6UXM2 (UniProtKB/Swiss-Prot),   Q9P2B1 (UniProtKB/Swiss-Prot),   A8K1C7 (UniProtKB/TrEMBL)
Protein Domains
LRRC8 pannexin-like TM region

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IWT6-F1-model_v2 AlphaFold Q8IWT6 1-810 view protein structure

Promoters
RGD ID:7216331
Promoter ID:EPDNEW_H13911
Type:initiation region
Name:LRRC8A_1
Description:leucine rich repeat containing 8 family member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,882,182 - 128,882,242EPDNEW
RGD ID:6807854
Promoter ID:HG_KWN:65192
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001127244,   NM_001127245,   OTTHUMT00000054516
Position:
Human AssemblyChrPosition (strand)Source
Build 369130,684,236 - 130,684,952 (+)MPROMDB
RGD ID:6813660
Promoter ID:HG_ACW:82584
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:LRRC8A.IAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 369130,704,391 - 130,704,891 (+)MPROMDB
RGD ID:6807855
Promoter ID:HG_KWN:65195
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000054520
Position:
Human AssemblyChrPosition (strand)Source
Build 369130,714,596 - 130,715,096 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19027 AgrOrtholog
COSMIC LRRC8A COSMIC
Ensembl Genes ENSG00000136802 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000259324 ENTREZGENE
  ENST00000259324.5 UniProtKB/Swiss-Prot
  ENST00000372599 ENTREZGENE
  ENST00000372599.7 UniProtKB/Swiss-Prot
  ENST00000372600 ENTREZGENE
  ENST00000372600.9 UniProtKB/Swiss-Prot
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136802 GTEx
HGNC ID HGNC:19027 ENTREZGENE
Human Proteome Map LRRC8A Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_domain-containing UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRC8_Pannexin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56262 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 56262 ENTREZGENE
OMIM 608360 OMIM
PANTHER LEUCINE RICH REPEAT CONTAINING 8 VRAC SUBUNIT A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR48051 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LRR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pannexin_like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134909315 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_SD22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_TYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K1C7 ENTREZGENE, UniProtKB/TrEMBL
  LRC8A_HUMAN UniProtKB/Swiss-Prot
  Q6UXM2 ENTREZGENE
  Q8IWT6 ENTREZGENE
  Q8NCI0 ENTREZGENE
  Q9P2B1 ENTREZGENE
UniProt Secondary Q6UXM2 UniProtKB/Swiss-Prot
  Q8NCI0 UniProtKB/Swiss-Prot
  Q9P2B1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-08 LRRC8A  leucine rich repeat containing 8 VRAC subunit A  LRRC8A  leucine rich repeat containing 8 family member A  Symbol and/or name change 5135510 APPROVED
2016-06-07 LRRC8A  leucine rich repeat containing 8 family member A  LRRC8A  leucine-rich repeat containing 8 family member A  Symbol and/or name change 5135510 APPROVED
2015-11-24 LRRC8A  leucine-rich repeat containing 8 family member A  LRRC8A  leucine rich repeat containing 8 family, member A  Symbol and/or name change 5135510 APPROVED