SCN11A (sodium voltage-gated channel alpha subunit 11) - Rat Genome Database

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Gene: SCN11A (sodium voltage-gated channel alpha subunit 11) Homo sapiens
Analyze
Symbol: SCN11A
Name: sodium voltage-gated channel alpha subunit 11
RGD ID: 1342640
HGNC Page HGNC:10583
Description: Enables voltage-gated sodium channel activity. Involved in membrane depolarization during action potential and sensory perception of pain. Located in extracellular exosome. Is active in plasma membrane. Implicated in familial episodic pain syndrome 3 and hereditary sensory and autonomic neuropathy type 7.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FEPS3; hNaN; HSAN7; NaN; NAV1.9; peripheral nerve sodium channel 5; PN5; SCN12A; sensory neuron sodium channel 2; SNS-2; sodium channel protein type 11 subunit alpha; sodium channel protein type XI subunit alpha; sodium channel, voltage gated, type XI alpha subunit; sodium channel, voltage-gated, type xi, alpha; sodium channel, voltage-gated, type XI, alpha polypeptide; sodium channel, voltage-gated, type XI, alpha subunit; sodium channel, voltage-gated, type XII, alpha; sodium channel, voltage-gated, type XII, alpha polypeptide; voltage-gated sodium channel Nav1.9; voltage-gated sodium channel subunit alpha Nav1.9
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38338,845,764 - 39,051,944 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl338,845,764 - 39,052,157 (-)EnsemblGRCh38hg38GRCh38
GRCh37338,887,255 - 39,093,435 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36338,862,264 - 38,967,056 (-)NCBINCBI36Build 36hg18NCBI36
Build 34338,862,263 - 38,967,056NCBI
Celera338,826,267 - 38,932,035 (-)NCBICelera
Cytogenetic Map3p22.2NCBI
HuRef338,929,417 - 39,033,960 (-)NCBIHuRef
CHM1_1338,838,871 - 38,943,183 (-)NCBICHM1_1
T2T-CHM13v2.0338,857,981 - 39,064,106 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
action potential  (IEA)
action potential initiation  (IEA)
acute inflammatory response  (IEA)
artery development  (IEA)
axonogenesis  (IEA)
behavioral response to acetic acid induced pain  (IEA)
behavioral response to formalin induced pain  (IEA)
behavioral response to pain  (IEA)
biological_process  (ND)
calcitonin gene-related peptide receptor signaling pathway  (IEA)
calcium ion transmembrane transport  (IEA)
cardiac muscle cell action potential involved in contraction  (IBA)
cell motility  (IEA)
cellular response to cold  (IEA)
chemosensory behavior  (IEA)
chronic inflammatory response  (IEA)
circadian rhythm  (IEA)
detection of mechanical stimulus involved in sensory perception  (IEA)
detection of mechanical stimulus involved in sensory perception of pain  (IEA)
detection of temperature stimulus involved in sensory perception of pain  (IEA)
establishment of localization in cell  (IEA,ISO)
G protein-coupled receptor signaling pathway  (IEA)
inflammatory response  (IEA)
mast cell degranulation  (IEA)
membrane depolarization during action potential  (IDA,IEA,IMP)
micturition  (IEA)
monoatomic cation transmembrane transport  (IEA)
monoatomic ion transmembrane transport  (IEA)
monoatomic ion transport  (IEA)
neuronal action potential  (IEA)
optic nerve development  (ISO)
protein kinase A signaling  (IEA)
reflex  (IEA)
regulation of membrane potential  (IEA)
response to auditory stimulus  (IEA)
response to cold  (IEA)
response to heat  (IEA)
response to high light intensity  (IEA)
response to nitric oxide  (IEA)
response to pain  (IEA)
response to prostaglandin E  (IEA)
response to toxic substance  (IEA)
response to xenobiotic stimulus  (IEA)
sensory perception of itch  (IEA)
sensory perception of pain  (IEA,IMP,ISS)
skeletal muscle organ development  (IEA)
small intestine smooth muscle contraction  (IEA)
sodium ion transmembrane transport  (IBA,IEA)
sodium ion transport  (IEA,ISO)
thermosensory behavior  (IEA)
thigmotaxis  (IEA)
transmembrane transport  (IEA)
transmission of nerve impulse  (IEA)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
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
Additional References at PubMed
PMID:10444332   PMID:10580103   PMID:11144347   PMID:12384689   PMID:12536125   PMID:15302875   PMID:16382098   PMID:19056867   PMID:21857998   PMID:21873635   PMID:24036948   PMID:24144460  
PMID:24207120   PMID:24564958   PMID:24776970   PMID:25791876   PMID:26645915   PMID:26746779   PMID:27224030   PMID:27297039   PMID:28298626   PMID:28530638   PMID:28953656   PMID:29419974  
PMID:30395542   PMID:30554136   PMID:30557356   PMID:31498915   PMID:31822564   PMID:32132394   PMID:32601768   PMID:34930944   PMID:36042349   PMID:37061202   PMID:37186898  


Genomics

Comparative Map Data
SCN11A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38338,845,764 - 39,051,944 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl338,845,764 - 39,052,157 (-)EnsemblGRCh38hg38GRCh38
GRCh37338,887,255 - 39,093,435 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36338,862,264 - 38,967,056 (-)NCBINCBI36Build 36hg18NCBI36
Build 34338,862,263 - 38,967,056NCBI
Celera338,826,267 - 38,932,035 (-)NCBICelera
Cytogenetic Map3p22.2NCBI
HuRef338,929,417 - 39,033,960 (-)NCBIHuRef
CHM1_1338,838,871 - 38,943,183 (-)NCBICHM1_1
T2T-CHM13v2.0338,857,981 - 39,064,106 (-)NCBIT2T-CHM13v2.0
Scn11a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399119,582,829 - 119,654,522 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9119,582,825 - 119,654,522 (-)EnsemblGRCm39 Ensembl
GRCm389119,753,763 - 119,825,456 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9119,753,759 - 119,825,456 (-)EnsemblGRCm38mm10GRCm38
MGSCv379119,662,881 - 119,734,574 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369119,602,461 - 119,672,558 (-)NCBIMGSCv36mm8
Celera9120,223,700 - 120,294,696 (-)NCBICelera
Cytogenetic Map9F3NCBI
cM Map971.33NCBI
Scn11a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88128,374,441 - 128,444,718 (-)NCBIGRCr8
mRatBN7.28119,495,550 - 119,567,044 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8119,496,769 - 119,567,044 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8125,078,222 - 125,148,530 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08123,277,258 - 123,347,562 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08121,110,473 - 121,180,436 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08128,450,793 - 128,527,510 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8128,450,801 - 128,521,109 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08127,654,010 - 127,724,293 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48124,724,493 - 124,794,654 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18124,744,232 - 124,814,391 (-)NCBI
Celera8118,645,022 - 118,713,950 (-)NCBICelera
Cytogenetic Map8q32NCBI
Scn11a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542724,989,615 - 25,109,550 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542724,917,709 - 25,109,499 (+)NCBIChiLan1.0ChiLan1.0
SCN11A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2238,797,256 - 38,904,450 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1338,802,018 - 38,909,202 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0338,741,485 - 38,948,400 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1339,024,090 - 39,131,293 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl339,024,921 - 39,128,015 (-)Ensemblpanpan1.1panPan2
SCN11A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1238,559,804 - 8,651,448 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl238,559,952 - 8,651,500 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha238,599,916 - 8,691,489 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0238,852,382 - 8,933,244 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl238,852,696 - 8,935,541 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1238,662,540 - 8,754,003 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0238,803,937 - 8,896,178 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0238,797,979 - 8,889,539 (-)NCBIUU_Cfam_GSD_1.0
Scn11a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118195,023,309 - 195,117,394 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647328,162,528 - 28,248,474 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647328,162,528 - 28,248,474 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCN11A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1323,602,977 - 23,692,220 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11323,602,378 - 23,692,281 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21325,889,505 - 25,951,832 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SCN11A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.115466,295 - 575,460 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl15467,210 - 575,110 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660639,093,710 - 9,305,205 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Scn11a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247312,065,228 - 2,203,215 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SCN11A
1302 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001349253.2(SCN11A):c.4420C>T (p.Leu1474=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000542588]|Inborn genetic diseases [RCV002330965] Chr3:38847650 [GRCh38]
Chr3:38889141 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.733G>T (p.Ala245Ser) single nucleotide variant not provided [RCV000520001] Chr3:38921235 [GRCh38]
Chr3:38962726 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5229C>G (p.Ala1743=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000552898]|Inborn genetic diseases [RCV002341455] Chr3:38846841 [GRCh38]
Chr3:38888332 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.470A>T (p.Asn157Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000530286] Chr3:38945429 [GRCh38]
Chr3:38986920 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2299G>A (p.Gly767Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000524918] Chr3:38896949 [GRCh38]
Chr3:38938440 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5061C>T (p.Phe1687=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000526452]|not provided [RCV001561151] Chr3:38847009 [GRCh38]
Chr3:38888500 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.2759C>T (p.Ala920Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000544642]|Inborn genetic diseases [RCV002438479]|not provided [RCV001700220] Chr3:38894609 [GRCh38]
Chr3:38936100 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.1599G>A (p.Met533Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000532802]|Inborn genetic diseases [RCV002404551] Chr3:38905196 [GRCh38]
Chr3:38946687 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.1043_1045dup (p.Ser348dup) duplication Hereditary sensory and autonomic neuropathy type 7 [RCV000556367] Chr3:38910121..38910122 [GRCh38]
Chr3:38951612..38951613 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2945G>A (p.Arg982Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000546127]|Inborn genetic diseases [RCV002438482]|not provided [RCV003222037] Chr3:38886129 [GRCh38]
Chr3:38927620 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.481A>G (p.Ile161Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000543031] Chr3:38945418 [GRCh38]
Chr3:38986909 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790198]|Hereditary motor neuron disease [RCV001027472]|Hereditary sensory and autonomic neuropathy type 7 [RCV000551668]|Inborn genetic diseases [RCV002341453]|not provided [RCV001509212] Chr3:38847003 [GRCh38]
Chr3:38888494 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.695C>T (p.Ala232Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000545367] Chr3:38925432 [GRCh38]
Chr3:38966923 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1624C>A (p.Pro542Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000545535]|Inborn genetic diseases [RCV002404552] Chr3:38904083 [GRCh38]
Chr3:38945574 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.30T>C (p.Phe10=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000549614]|Inborn genetic diseases [RCV002324048] Chr3:38950333 [GRCh38]
Chr3:38991824 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1575T>C (p.Ala525=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000552238]|Inborn genetic diseases [RCV002404550] Chr3:38905220 [GRCh38]
Chr3:38946711 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.4272C>T (p.Tyr1424=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000527131]|Inborn genetic diseases [RCV002330961]|SCN11A-related condition [RCV003962590]|not provided [RCV001619787] Chr3:38850536 [GRCh38]
Chr3:38892027 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.3819A>G (p.Glu1273=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000547802]|Inborn genetic diseases [RCV002367945]|SCN11A-related condition [RCV003935518]|not provided [RCV001653917]|not specified [RCV001700158] Chr3:38867453 [GRCh38]
Chr3:38908944 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.1566A>G (p.Ala522=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000544069]|Inborn genetic diseases [RCV002404549] Chr3:38905229 [GRCh38]
Chr3:38946720 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.5169C>T (p.Pro1723=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000527664]|not provided [RCV001707739] Chr3:38846901 [GRCh38]
Chr3:38888392 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.2433C>G (p.Leu811=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000553197]|Inborn genetic diseases [RCV002448786]|not provided [RCV001724059]|not specified [RCV001701048] Chr3:38894935 [GRCh38]
Chr3:38936426 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.2213C>T (p.Pro738Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000528042]|Inborn genetic diseases [RCV002431701]|SCN11A-related condition [RCV003962589]|not provided [RCV001712521] Chr3:38897035 [GRCh38]
Chr3:38938526 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.4284C>T (p.Gly1428=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000553849]|Inborn genetic diseases [RCV002330963] Chr3:38850524 [GRCh38]
Chr3:38892015 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.1927A>G (p.Ile643Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000528816]|Inborn genetic diseases [RCV003278915]|not provided [RCV002261121] Chr3:38899989 [GRCh38]
Chr3:38941480 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4405C>A (p.Arg1469=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000529867]|Inborn genetic diseases [RCV002330964] Chr3:38847665 [GRCh38]
Chr3:38889156 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2432T>C (p.Leu811Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000074494] Chr3:38894936 [GRCh38]
Chr3:38936427 [GRCh37]
Chr3:3p22.2		 pathogenic
NM_001349253.2(SCN11A):c.2423C>G (p.Ala808Gly) single nucleotide variant Familial episodic pain syndrome with predominantly lower limb involvement [RCV000074496] Chr3:38894945 [GRCh38]
Chr3:38936436 [GRCh37]
Chr3:3p22.2		 pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2		 pathogenic
NM_001349253.2(SCN11A):c.5154G>A (p.Lys1718=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002127540] Chr3:38846916 [GRCh38]
Chr3:38888407 [GRCh37]
Chr3:38863411 [NCBI36]
Chr3:3p22.2		 likely benign|not provided
NM_014139.2(SCN11A):c.4996C>T (p.Gln1666Ter) single nucleotide variant Malignant melanoma [RCV000066051] Chr3:38847074 [GRCh38]
Chr3:38888565 [GRCh37]
Chr3:38863569 [NCBI36]
Chr3:3p22.2		 not provided
NM_014139.2(SCN11A):c.3876C>T (p.Ile1292=) single nucleotide variant Malignant melanoma [RCV000066052] Chr3:38867396 [GRCh38]
Chr3:38908887 [GRCh37]
Chr3:38883891 [NCBI36]
Chr3:3p22.2		 not provided
NM_014139.2(SCN11A):c.3570C>T (p.Leu1190=) single nucleotide variant Malignant melanoma [RCV000066053] Chr3:38871634 [GRCh38]
Chr3:38913125 [GRCh37]
Chr3:38888129 [NCBI36]
Chr3:3p22.2		 not provided
NM_014139.2(SCN11A):c.1603G>T (p.Glu535Ter) single nucleotide variant Malignant melanoma [RCV000066054] Chr3:38905192 [GRCh38]
Chr3:38946683 [GRCh37]
Chr3:38921687 [NCBI36]
Chr3:3p22.2		 not provided
NM_001349253.2(SCN11A):c.1020G>A (p.Thr340=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003074615] Chr3:38910147 [GRCh38]
Chr3:38951638 [GRCh37]
Chr3:38926642 [NCBI36]
Chr3:3p22.2		 uncertain significance|not provided
NM_001349253.2(SCN11A):c.5035C>T (p.Arg1679Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001900004]|Inborn genetic diseases [RCV002343915] Chr3:38847035 [GRCh38]
Chr3:38888526 [GRCh37]
Chr3:38863530 [NCBI36]
Chr3:3p22.2		 uncertain significance|not provided
NM_014139.2(SCN11A):c.4745C>T (p.Ser1582Phe) single nucleotide variant Malignant melanoma [RCV000060815] Chr3:38847325 [GRCh38]
Chr3:38888816 [GRCh37]
Chr3:38863820 [NCBI36]
Chr3:3p22.2		 not provided
NM_014139.2(SCN11A):c.4286G>A (p.Trp1429Ter) single nucleotide variant Malignant melanoma [RCV000060816] Chr3:38850522 [GRCh38]
Chr3:38892013 [GRCh37]
Chr3:38867017 [NCBI36]
Chr3:3p22.2		 not provided
NM_014139.2(SCN11A):c.2042C>T (p.Ala681Val) single nucleotide variant Malignant melanoma [RCV000060817] Chr3:38897206 [GRCh38]
Chr3:38938697 [GRCh37]
Chr3:38913701 [NCBI36]
Chr3:3p22.2		 not provided
NM_001349253.2(SCN11A):c.673C>T (p.Arg225Cys) single nucleotide variant Familial episodic pain syndrome with predominantly lower limb involvement [RCV000074495]|Hereditary sensory and autonomic neuropathy type 7 [RCV001229351]|Inborn genetic diseases [RCV002514311]|not provided [RCV003886374] Chr3:38925454 [GRCh38]
Chr3:38966945 [GRCh37]
Chr3:38941949 [NCBI36]
Chr3:3p22.2		 pathogenic|likely pathogenic|not provided
NM_001349253.2(SCN11A):c.267+17G>C single nucleotide variant not provided [RCV000598540] Chr3:38950079 [GRCh38]
Chr3:38991570 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3908_3909insA (p.Phe1303fs) insertion Hereditary sensory and autonomic neuropathy type 7 [RCV001348616] Chr3:38867363..38867364 [GRCh38]
Chr3:38908854..38908855 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.833G>T (p.Ser278Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001294345] Chr3:38921135 [GRCh38]
Chr3:38962626 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1987A>G (p.Lys663Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001348085] Chr3:38899929 [GRCh38]
Chr3:38941420 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro) single nucleotide variant Familial episodic pain syndrome with predominantly lower limb involvement [RCV000144934]|Hereditary sensory and autonomic neuropathy type 7 [RCV001082548]|Inborn genetic diseases [RCV002453464]|not provided [RCV000282888] Chr3:38872215 [GRCh38]
Chr3:38913706 [GRCh37]
Chr3:3p22.2		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001349253.2(SCN11A):c.1142T>C (p.Ile381Thr) single nucleotide variant Familial episodic pain syndrome with predominantly lower limb involvement [RCV000144935]|Hereditary sensory and autonomic neuropathy type 7 [RCV001808403]|Hereditary sensory and autonomic neuropathy type 7 [RCV002512564]|Inborn genetic diseases [RCV002460046] Chr3:38909154 [GRCh38]
Chr3:38950645 [GRCh37]
Chr3:3p22.2		 pathogenic|likely pathogenic|uncertain significance|not provided
GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3 copy number gain See cases [RCV000134924] Chr3:33728406..40662451 [GRCh38]
Chr3:33769898..40703942 [GRCh37]
Chr3:33744902..40678946 [NCBI36]
Chr3:3p22.3-22.1		 pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
NM_001349253.2(SCN11A):c.494_501dup (p.Gly168fs) duplication Hereditary sensory and autonomic neuropathy type 7 [RCV000548981]|Inborn genetic diseases [RCV002341449]|not provided [RCV000584897] Chr3:38926918..38926919 [GRCh38]
Chr3:38968409..38968410 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.760G>T (p.Val254Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000543492] Chr3:38921208 [GRCh38]
Chr3:38962699 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.465C>A (p.Asn155Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000543815] Chr3:38945434 [GRCh38]
Chr3:38986925 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.712C>T (p.Arg238Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000546703]|Inborn genetic diseases [RCV002367947]|not provided [RCV001564636]|not specified [RCV003479160] Chr3:38925415 [GRCh38]
Chr3:38966906 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.268-10dup duplication Hereditary sensory and autonomic neuropathy type 7 [RCV000555845]|SCN11A-related condition [RCV003915622]|not provided [RCV001560102]|not specified [RCV001700157] Chr3:38946916..38946917 [GRCh38]
Chr3:38988407..38988408 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.3014G>A (p.Trp1005Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000818400]|Inborn genetic diseases [RCV002438515]|not provided [RCV000578883] Chr3:38885338 [GRCh38]
Chr3:38926829 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.1904A>G (p.His635Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000548263] Chr3:38900012 [GRCh38]
Chr3:38941503 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2530T>C (p.Cys844Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000530681]|Inborn genetic diseases [RCV002525311] Chr3:38894838 [GRCh38]
Chr3:38936329 [GRCh37]
Chr3:3p22.2		 uncertain significance
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 copy number gain See cases [RCV000240519] Chr3:37028313..49929220 [GRCh37]
Chr3:3p22.2-21.31		 likely pathogenic
NM_001349253.2(SCN11A):c.1638T>C (p.Cys546=) single nucleotide variant Familial episodic pain syndrome with predominantly lower limb involvement [RCV001807181]|Hereditary sensory and autonomic neuropathy type 7 [RCV001520454]|Hereditary sensory and autonomic neuropathy type 7 [RCV001807180]|not provided [RCV001689865]|not specified [RCV000254125] Chr3:38904069 [GRCh38]
Chr3:38945560 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.3506A>G (p.Asn1169Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000551142]|Inborn genetic diseases [RCV002456247] Chr3:38871698 [GRCh38]
Chr3:38913189 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.703G>T (p.Val235Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000529541] Chr3:38925424 [GRCh38]
Chr3:38966915 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2725G>A (p.Val909Ile) single nucleotide variant Familial episodic pain syndrome with predominantly lower limb involvement [RCV001807183]|Hereditary sensory and autonomic neuropathy type 7 [RCV001517373]|Hereditary sensory and autonomic neuropathy type 7 [RCV001807182]|not provided [RCV001683068]|not specified [RCV000245716] Chr3:38894643 [GRCh38]
Chr3:38936134 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.2950-19G>C single nucleotide variant Familial episodic pain syndrome with predominantly lower limb involvement [RCV001807185]|Hereditary sensory and autonomic neuropathy type 7 [RCV001807184]|Hereditary sensory and autonomic neuropathy type 7 [RCV002058244]|not provided [RCV001610686]|not specified [RCV000250674] Chr3:38885421 [GRCh38]
Chr3:38926912 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.5037C>T (p.Arg1679=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000550177]|not provided [RCV001653918]|not specified [RCV001701049] Chr3:38847033 [GRCh38]
Chr3:38888524 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.5358C>T (p.Gly1786=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001367964] Chr3:38846712 [GRCh38]
Chr3:38888203 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4327+259T>C single nucleotide variant not provided [RCV001566102] Chr3:38850222 [GRCh38]
Chr3:38891713 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.386+150G>A single nucleotide variant not provided [RCV001546835] Chr3:38946639 [GRCh38]
Chr3:38988130 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4380G>A (p.Thr1460=) single nucleotide variant not provided [RCV000487734] Chr3:38847690 [GRCh38]
Chr3:38889181 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1730C>T (p.Pro577Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000546753]|Inborn genetic diseases [RCV002404278]|not provided [RCV000488000] Chr3:38903977 [GRCh38]
Chr3:38945468 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.4433G>A (p.Arg1478Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000555047] Chr3:38847637 [GRCh38]
Chr3:38889128 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.617+1G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000532759] Chr3:38926802 [GRCh38]
Chr3:38968293 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1442G>A (p.Gly481Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000555317]|not provided [RCV001712574]|not specified [RCV003479159] Chr3:38907980 [GRCh38]
Chr3:38949471 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.1259T>A (p.Met420Lys) single nucleotide variant not provided [RCV003239013] Chr3:38909037 [GRCh38]
Chr3:38950528 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.408C>T (p.Ile136=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001078506]|not provided [RCV000488370] Chr3:38945491 [GRCh38]
Chr3:38986982 [GRCh37]
Chr3:3p22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001349253.2(SCN11A):c.1187T>C (p.Leu396Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000489242]|not provided [RCV000488990] Chr3:38909109 [GRCh38]
Chr3:38950600 [GRCh37]
Chr3:3p22.2		 pathogenic
NM_001349253.2(SCN11A):c.2201A>G (p.Lys734Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000549499] Chr3:38897047 [GRCh38]
Chr3:38938538 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1062G>A (p.Arg354=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000527849]|not provided [RCV001613366] Chr3:38910105 [GRCh38]
Chr3:38951596 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.5359A>G (p.Lys1787Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000552102]|Inborn genetic diseases [RCV002350381]|not provided [RCV002263797] Chr3:38846711 [GRCh38]
Chr3:38888202 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.1499G>A (p.Arg500Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000531595] Chr3:38905296 [GRCh38]
Chr3:38946787 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4432C>T (p.Arg1478Trp) single nucleotide variant not provided [RCV001092242] Chr3:38847638 [GRCh38]
Chr3:38889129 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.180G>T (p.Arg60Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000693345]|not provided [RCV000520402] Chr3:38950183 [GRCh38]
Chr3:38991674 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3904C>T (p.Leu1302Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000598867] Chr3:38867368 [GRCh38]
Chr3:38908859 [GRCh37]
Chr3:3p22.2		 pathogenic|not provided
NM_001349253.2(SCN11A):c.3877A>G (p.Ile1293Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000528637] Chr3:38867395 [GRCh38]
Chr3:38908886 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.172G>C (p.Ala58Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000534266] Chr3:38950191 [GRCh38]
Chr3:38991682 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4950T>C (p.Ala1650=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000556822]|Inborn genetic diseases [RCV002341450]|SCN11A-related condition [RCV003945310]|not provided [RCV003437276] Chr3:38847120 [GRCh38]
Chr3:38888611 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.742C>T (p.Arg248Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000559246]|Inborn genetic diseases [RCV002384243] Chr3:38921226 [GRCh38]
Chr3:38962717 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1843-10C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000559464]|not provided [RCV001672856] Chr3:38900083 [GRCh38]
Chr3:38941574 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1941T>A (p.Ile647=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000537000]|not provided [RCV001653916] Chr3:38899975 [GRCh38]
Chr3:38941466 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.136G>A (p.Glu46Lys) single nucleotide variant not provided [RCV000415843] Chr3:38950227 [GRCh38]
Chr3:38991718 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4826C>T (p.Thr1609Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000560158]|not provided [RCV001534088] Chr3:38847244 [GRCh38]
Chr3:38888735 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.4977C>T (p.Val1659=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000537680]|Inborn genetic diseases [RCV002341451] Chr3:38847093 [GRCh38]
Chr3:38888584 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.5261_5270dup (p.Gly1757_Asp1758insTer) microsatellite Hereditary sensory and autonomic neuropathy type 7 [RCV000526881] Chr3:38846799..38846800 [GRCh38]
Chr3:38888290..38888291 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3132C>G (p.Asn1044Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000557743]|Inborn genetic diseases [RCV002324049]|not provided [RCV001672857] Chr3:38883320 [GRCh38]
Chr3:38924811 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.757C>T (p.Leu253=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000535437]|Inborn genetic diseases [RCV002395467]|not provided [RCV001567198]|not specified [RCV001700159] Chr3:38921211 [GRCh38]
Chr3:38962702 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.1893C>T (p.Leu631=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001504493]|Inborn genetic diseases [RCV002413627] Chr3:38900023 [GRCh38]
Chr3:38941514 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2318T>C (p.Met773Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000541911] Chr3:38896930 [GRCh38]
Chr3:38938421 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4683G>C (p.Leu1561=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000558777]|not provided [RCV001672858] Chr3:38847387 [GRCh38]
Chr3:38888878 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.4230G>A (p.Thr1410=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000541093]|Inborn genetic diseases [RCV002330962]|not provided [RCV001584335]|not specified [RCV001701082] Chr3:38850578 [GRCh38]
Chr3:38892069 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.2693G>A (p.Gly898Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000532180] Chr3:38894675 [GRCh38]
Chr3:38936166 [GRCh37]
Chr3:3p22.2		 uncertain significance
NC_000003.11:g.(?_37493846)_(38991873_?)del deletion Brugada syndrome [RCV000531304] Chr3:37493846..38991873 [GRCh37]
Chr3:3p22.2		 pathogenic|uncertain significance
NM_001349253.2(SCN11A):c.702A>C (p.Ser234=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000553395]|Inborn genetic diseases [RCV002367946] Chr3:38925425 [GRCh38]
Chr3:38966916 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.782del (p.Phe261fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV001856816]|not provided [RCV000483903] Chr3:38921186 [GRCh38]
Chr3:38962677 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1765A>G (p.Ile589Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001246784]|Inborn genetic diseases [RCV002413339]|not provided [RCV000480762] Chr3:38903942 [GRCh38]
Chr3:38945433 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4655G>A (p.Gly1552Asp) single nucleotide variant not provided [RCV000481608] Chr3:38847415 [GRCh38]
Chr3:38888906 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2695del (p.Ile899fs) deletion not provided [RCV000478614] Chr3:38894673 [GRCh38]
Chr3:38936164 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1717G>A (p.Val573Met) single nucleotide variant not provided [RCV000480155] Chr3:38903990 [GRCh38]
Chr3:38945481 [GRCh37]
Chr3:3p22.2		 likely pathogenic
NM_001349253.2(SCN11A):c.2501T>G (p.Leu834Ter) single nucleotide variant not specified [RCV000500059] Chr3:38894867 [GRCh38]
Chr3:38936358 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.938G>A (p.Cys313Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000560587] Chr3:38919956 [GRCh38]
Chr3:38961447 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1132TTC[2] (p.Phe380del) microsatellite Hereditary sensory and autonomic neuropathy type 7 [RCV000538298] Chr3:38909156..38909158 [GRCh38]
Chr3:38950647..38950649 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3495+8C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000533825]|not provided [RCV003431107] Chr3:38872185 [GRCh38]
Chr3:38913676 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.4604A>G (p.Lys1535Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV001027471]|Hereditary sensory and autonomic neuropathy type 7 [RCV000531338] Chr3:38847466 [GRCh38]
Chr3:38888957 [GRCh37]
Chr3:3p22.2		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001349253.2(SCN11A):c.4879T>C (p.Tyr1627His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000536200]|Inborn genetic diseases [RCV002341448]|not provided [RCV002466534] Chr3:38847191 [GRCh38]
Chr3:38888682 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.3042A>T (p.Gln1014His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000537134] Chr3:38885310 [GRCh38]
Chr3:38926801 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2871G>A (p.Thr957=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001461691]|Inborn genetic diseases [RCV002438480] Chr3:38886203 [GRCh38]
Chr3:38927694 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2517C>G (p.Phe839Leu) single nucleotide variant Inborn genetic diseases [RCV003291474] Chr3:38894851 [GRCh38]
Chr3:38936342 [GRCh37]
Chr3:3p22.2		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001349253.2(SCN11A):c.2881G>T (p.Val961Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000533369]|Inborn genetic diseases [RCV002438481] Chr3:38886193 [GRCh38]
Chr3:38927684 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.95C>T (p.Ala32Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000536767]|Inborn genetic diseases [RCV002384244]|SCN11A-related condition [RCV003935519]|not provided [RCV001675928] Chr3:38950268 [GRCh38]
Chr3:38991759 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.2298C>T (p.Cys766=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000540493]|Inborn genetic diseases [RCV002456245]|not provided [RCV001662595] Chr3:38896950 [GRCh38]
Chr3:38938441 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.88C>T (p.Arg30Trp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651852] Chr3:38950275 [GRCh38]
Chr3:38991766 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2576G>A (p.Arg859Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651853]|Inborn genetic diseases [RCV002458143] Chr3:38894792 [GRCh38]
Chr3:38936283 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4685G>A (p.Arg1562Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651854] Chr3:38847385 [GRCh38]
Chr3:38888876 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1986A>G (p.Gln662=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651856]|Inborn genetic diseases [RCV002422411] Chr3:38899930 [GRCh38]
Chr3:38941421 [GRCh37]
Chr3:3p22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001349253.2(SCN11A):c.3689A>G (p.Asn1230Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651857] Chr3:38871515 [GRCh38]
Chr3:38913006 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4478C>T (p.Ser1493Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651858] Chr3:38847592 [GRCh38]
Chr3:38889083 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5127_5128dup (p.Lys1710fs) microsatellite Hereditary sensory and autonomic neuropathy type 7 [RCV000651859] Chr3:38846941..38846942 [GRCh38]
Chr3:38888432..38888433 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1220A>G (p.Asn407Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651860] Chr3:38909076 [GRCh38]
Chr3:38950567 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.102A>G (p.Gln34=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651861]|Inborn genetic diseases [RCV002386108] Chr3:38950261 [GRCh38]
Chr3:38991752 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.1483del (p.Leu494_Leu495insTer) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV000651862]|Inborn genetic diseases [RCV002388141]|not provided [RCV001766413] Chr3:38905312 [GRCh38]
Chr3:38946803 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5312A>G (p.Gln1771Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651863]|Inborn genetic diseases [RCV002343374] Chr3:38846758 [GRCh38]
Chr3:38888249 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1729C>T (p.Pro577Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651864] Chr3:38903978 [GRCh38]
Chr3:38945469 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4607C>T (p.Thr1536Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651865] Chr3:38847463 [GRCh38]
Chr3:38888954 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2085C>T (p.Gly695=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651866] Chr3:38897163 [GRCh38]
Chr3:38938654 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2641A>G (p.Ile881Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651867] Chr3:38894727 [GRCh38]
Chr3:38936218 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1330T>C (p.Ser444Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651868] Chr3:38908092 [GRCh38]
Chr3:38949583 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3064G>T (p.Gly1022Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651869] Chr3:38885288 [GRCh38]
Chr3:38926779 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3840C>A (p.Ser1280Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651870] Chr3:38867432 [GRCh38]
Chr3:38908923 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2744G>T (p.Trp915Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651871] Chr3:38894624 [GRCh38]
Chr3:38936115 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3496-5A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651872] Chr3:38871713 [GRCh38]
Chr3:38913204 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.2458A>T (p.Asn820Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651873]|Inborn genetic diseases [RCV002442349] Chr3:38894910 [GRCh38]
Chr3:38936401 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.4973G>A (p.Arg1658His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651874]|Inborn genetic diseases [RCV002334196]|not provided [RCV002051874] Chr3:38847097 [GRCh38]
Chr3:38888588 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.2513G>A (p.Arg838Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651875]|Inborn genetic diseases [RCV002440365]|not provided [RCV001566282] Chr3:38894855 [GRCh38]
Chr3:38936346 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.3440G>A (p.Arg1147Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651876]|Inborn genetic diseases [RCV002458144] Chr3:38872248 [GRCh38]
Chr3:38913739 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2345CAT[3] (p.Ser785del) microsatellite Hereditary sensory and autonomic neuropathy type 7 [RCV000651877] Chr3:38896892..38896894 [GRCh38]
Chr3:38938383..38938385 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4282G>A (p.Gly1428Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651878]|Inborn genetic diseases [RCV002331260]|not provided [RCV001556793]|not specified [RCV003488766] Chr3:38850526 [GRCh38]
Chr3:38892017 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.5086G>A (p.Gly1696Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651879]|Inborn genetic diseases [RCV002531986] Chr3:38846984 [GRCh38]
Chr3:38888475 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.891T>C (p.Tyr297=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651880] Chr3:38921077 [GRCh38]
Chr3:38962568 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.344_346delinsG (p.Phe115_Asn116delinsTer) indel Hereditary sensory and autonomic neuropathy type 7 [RCV000651881] Chr3:38946829..38946831 [GRCh38]
Chr3:38988320..38988322 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.331A>G (p.Ile111Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651882] Chr3:38946844 [GRCh38]
Chr3:38988335 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1863A>G (p.Ile621Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651883]|Inborn genetic diseases [RCV002406466] Chr3:38900053 [GRCh38]
Chr3:38941544 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.2083G>A (p.Gly695Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651884] Chr3:38897165 [GRCh38]
Chr3:38938656 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.713-2A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651885] Chr3:38921257 [GRCh38]
Chr3:38962748 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.143C>G (p.Pro48Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651886] Chr3:38950220 [GRCh38]
Chr3:38991711 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790195]|Hereditary sensory and autonomic neuropathy type 7 [RCV000651887]|Inborn genetic diseases [RCV002397308]|not provided [RCV001509215] Chr3:38903963 [GRCh38]
Chr3:38945454 [GRCh37]
Chr3:3p22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001349253.2(SCN11A):c.3788T>C (p.Ile1263Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651855] Chr3:38870716 [GRCh38]
Chr3:38912207 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5215A>G (p.Ile1739Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651888]|Inborn genetic diseases [RCV002343375] Chr3:38846855 [GRCh38]
Chr3:38888346 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.1591A>G (p.Ile531Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651889]|Inborn genetic diseases [RCV002531987] Chr3:38905204 [GRCh38]
Chr3:38946695 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1588A>G (p.Thr530Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651890] Chr3:38905207 [GRCh38]
Chr3:38946698 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2254G>A (p.Gly752Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651891] Chr3:38896994 [GRCh38]
Chr3:38938485 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.453T>C (p.Ala151=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651892]|Inborn genetic diseases [RCV002334197] Chr3:38945446 [GRCh38]
Chr3:38986937 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4479G>T (p.Ser1493=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651893]|Inborn genetic diseases [RCV002331261] Chr3:38847591 [GRCh38]
Chr3:38889082 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1632C>A (p.Leu544=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651894]|Inborn genetic diseases [RCV002397309]|not provided [RCV003437380] Chr3:38904075 [GRCh38]
Chr3:38945566 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.1097A>G (p.Gln366Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651895]|Inborn genetic diseases [RCV002442350]|not provided [RCV001644733] Chr3:38910070 [GRCh38]
Chr3:38951561 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.1605A>G (p.Glu535=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651896] Chr3:38904102 [GRCh38]
Chr3:38945593 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3865G>A (p.Val1289Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651897]|Inborn genetic diseases [RCV002531988] Chr3:38867407 [GRCh38]
Chr3:38908898 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1365A>C (p.Pro455=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651898]|Inborn genetic diseases [RCV002386109] Chr3:38908057 [GRCh38]
Chr3:38949548 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4584C>T (p.Ile1528=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651899]|Inborn genetic diseases [RCV002334198] Chr3:38847486 [GRCh38]
Chr3:38888977 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4308C>T (p.Val1436=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651900]|Inborn genetic diseases [RCV002331262]|SCN11A-related condition [RCV003953190] Chr3:38850500 [GRCh38]
Chr3:38891991 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2339C>T (p.Ala780Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651901]|Inborn genetic diseases [RCV002442351] Chr3:38896909 [GRCh38]
Chr3:38938400 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2082C>T (p.Ile694=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651902]|Inborn genetic diseases [RCV002422412] Chr3:38897166 [GRCh38]
Chr3:38938657 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1683C>A (p.Pro561=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651903]|Inborn genetic diseases [RCV002397310] Chr3:38904024 [GRCh38]
Chr3:38945515 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.48C>T (p.Phe16=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651904]|Inborn genetic diseases [RCV002334199]|SCN11A-related condition [RCV003945662] Chr3:38950315 [GRCh38]
Chr3:38991806 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.4064G>T (p.Cys1355Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651906] Chr3:38850744 [GRCh38]
Chr3:38892235 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.804C>T (p.Ala268=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651907]|Inborn genetic diseases [RCV002422413] Chr3:38921164 [GRCh38]
Chr3:38962655 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4077G>A (p.Val1359=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651908]|Inborn genetic diseases [RCV002325309] Chr3:38850731 [GRCh38]
Chr3:38892222 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1109G>A (p.Arg370His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651909]|Inborn genetic diseases [RCV002440366] Chr3:38909187 [GRCh38]
Chr3:38950678 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.2760G>A (p.Ala920=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651910]|Inborn genetic diseases [RCV002440367] Chr3:38894608 [GRCh38]
Chr3:38936099 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4825A>G (p.Thr1609Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651911]|Inborn genetic diseases [RCV002334200] Chr3:38847245 [GRCh38]
Chr3:38888736 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.741A>G (p.Leu247=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651912]|Inborn genetic diseases [RCV002386110] Chr3:38921227 [GRCh38]
Chr3:38962718 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.201C>T (p.Gly67=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651913]|Inborn genetic diseases [RCV002422414]|SCN11A-related condition [RCV003918067] Chr3:38950162 [GRCh38]
Chr3:38991653 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.2662A>G (p.Lys888Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000651914] Chr3:38894706 [GRCh38]
Chr3:38936197 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2384C>T (p.Thr795Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000554661] Chr3:38896864 [GRCh38]
Chr3:38938355 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2646C>T (p.Pro882=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000538839]|Inborn genetic diseases [RCV002456246]|SCN11A-related condition [RCV003915621] Chr3:38894722 [GRCh38]
Chr3:38936213 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.5063C>T (p.Ala1688Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000538888]|Inborn genetic diseases [RCV002341452] Chr3:38847007 [GRCh38]
Chr3:38888498 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.5334G>A (p.Leu1778=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000539340]|not provided [RCV001692188] Chr3:38846736 [GRCh38]
Chr3:38888227 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1685A>G (p.Gln562Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000557952]|Inborn genetic diseases [RCV002526702] Chr3:38904022 [GRCh38]
Chr3:38945513 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2993A>G (p.Asp998Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000558506]|Inborn genetic diseases [RCV003159926]|not provided [RCV003231530] Chr3:38885359 [GRCh38]
Chr3:38926850 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3724A>G (p.Asn1242Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000539874]|Inborn genetic diseases [RCV002350380]|not provided [RCV003329303] Chr3:38871480 [GRCh38]
Chr3:38912971 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5207G>T (p.Gly1736Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000540407]|Inborn genetic diseases [RCV002341454]|SCN11A-related condition [RCV003962591]|not provided [RCV001653919] Chr3:38846863 [GRCh38]
Chr3:38888354 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.595G>A (p.Asp199Asn) single nucleotide variant not provided [RCV000658958] Chr3:38926825 [GRCh38]
Chr3:38968316 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3634G>T (p.Asp1212Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000685735] Chr3:38871570 [GRCh38]
Chr3:38913061 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1971G>C (p.Met657Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000700274]|Hereditary sensory and autonomic neuropathy type 7 [RCV002289979] Chr3:38899945 [GRCh38]
Chr3:38941436 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1654T>A (p.Ser552Thr) single nucleotide variant Familial episodic pain syndrome with predominantly lower limb involvement [RCV001358660]|Hereditary sensory and autonomic neuropathy type 7 [RCV000698783] Chr3:38904053 [GRCh38]
Chr3:38945544 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.134_136del (p.Gly45del) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV000685126]|not provided [RCV003228979] Chr3:38950227..38950229 [GRCh38]
Chr3:38991718..38991720 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.489G>A (p.Glu163=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000700852]|Inborn genetic diseases [RCV002332478] Chr3:38926931 [GRCh38]
Chr3:38968422 [GRCh37]
Chr3:3p22.2		 uncertain significance
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 copy number gain not provided [RCV000682249] Chr3:16923595..45249923 [GRCh37]
Chr3:3p24.3-21.31		 pathogenic
NM_001349253.2(SCN11A):c.3571G>A (p.Val1191Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000701331] Chr3:38871633 [GRCh38]
Chr3:38913124 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2288G>A (p.Arg763His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000687031]|Inborn genetic diseases [RCV002442423]|not provided [RCV001756162] Chr3:38896960 [GRCh38]
Chr3:38938451 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.5083G>A (p.Gly1695Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000688158] Chr3:38846987 [GRCh38]
Chr3:38888478 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3851G>A (p.Gly1284Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000685664] Chr3:38867421 [GRCh38]
Chr3:38908912 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.887C>T (p.Ala296Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000687233]|Inborn genetic diseases [RCV002369834] Chr3:38921081 [GRCh38]
Chr3:38962572 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.429C>A (p.Cys143Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000690264] Chr3:38945470 [GRCh38]
Chr3:38986961 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2522G>A (p.Arg841Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000693016] Chr3:38894846 [GRCh38]
Chr3:38936337 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5071G>A (p.Ala1691Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000707112]|not provided [RCV001815432] Chr3:38846999 [GRCh38]
Chr3:38888490 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.959+5G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000694938] Chr3:38919930 [GRCh38]
Chr3:38961421 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.233T>C (p.Leu78Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000695064] Chr3:38950130 [GRCh38]
Chr3:38991621 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1560G>T (p.Gln520His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000693380]|Inborn genetic diseases [RCV002397403]|not provided [RCV001756188] Chr3:38905235 [GRCh38]
Chr3:38946726 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.2770G>A (p.Asp924Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000689078]|Inborn genetic diseases [RCV002440437] Chr3:38894598 [GRCh38]
Chr3:38936089 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790193]|Hereditary sensory and autonomic neuropathy type 7 [RCV000706069]|Inborn genetic diseases [RCV002422607]|not provided [RCV001509214] Chr3:38897153 [GRCh38]
Chr3:38938644 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.2174G>A (p.Arg725His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000692378] Chr3:38897074 [GRCh38]
Chr3:38938565 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.974A>G (p.Gln325Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000686071] Chr3:38910193 [GRCh38]
Chr3:38951684 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3620G>T (p.Cys1207Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000706543] Chr3:38871584 [GRCh38]
Chr3:38913075 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1192GTT[1] (p.Val399del) microsatellite Hereditary sensory and autonomic neuropathy type 7 [RCV000697563]|not provided [RCV003480781] Chr3:38909099..38909101 [GRCh38]
Chr3:38950590..38950592 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4057-7T>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000701870] Chr3:38850758 [GRCh38]
Chr3:38892249 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.1779C>A (p.Phe593Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000689872] Chr3:38903928 [GRCh38]
Chr3:38945419 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2230del (p.Ser744fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV000704285] Chr3:38897018 [GRCh38]
Chr3:38938509 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4143T>G (p.Ile1381Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000690295] Chr3:38850665 [GRCh38]
Chr3:38892156 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2093T>C (p.Val698Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000695423] Chr3:38897155 [GRCh38]
Chr3:38938646 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2319G>A (p.Met773Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000695500] Chr3:38896929 [GRCh38]
Chr3:38938420 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1385G>A (p.Gly462Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000702854] Chr3:38908037 [GRCh38]
Chr3:38949528 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4748A>G (p.Tyr1583Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000688626] Chr3:38847322 [GRCh38]
Chr3:38888813 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5135T>C (p.Met1712Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000705041] Chr3:38846935 [GRCh38]
Chr3:38888426 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2124G>A (p.Leu708=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000705094]|Inborn genetic diseases [RCV002422598] Chr3:38897124 [GRCh38]
Chr3:38938615 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.2654T>C (p.Met885Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000691086] Chr3:38894714 [GRCh38]
Chr3:38936205 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2009G>A (p.Arg670His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000705258]|not provided [RCV003328623] Chr3:38899907 [GRCh38]
Chr3:38941398 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.3594CTT[1] (p.Phe1200del) microsatellite Hereditary sensory and autonomic neuropathy type 7 [RCV000693945] Chr3:38871605..38871607 [GRCh38]
Chr3:38913096..38913098 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.950T>C (p.Met317Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000691342] Chr3:38919944 [GRCh38]
Chr3:38961435 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3485A>G (p.Glu1162Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000700751] Chr3:38872203 [GRCh38]
Chr3:38913694 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.673del (p.Arg225fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV000703353] Chr3:38925454 [GRCh38]
Chr3:38966945 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2307G>A (p.Trp769Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000696942] Chr3:38896941 [GRCh38]
Chr3:38938432 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4178C>A (p.Ala1393Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000703541] Chr3:38850630 [GRCh38]
Chr3:38892121 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4837G>A (p.Glu1613Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000714538]|Hereditary sensory and autonomic neuropathy type 7 [RCV002532970] Chr3:38847233 [GRCh38]
Chr3:38888724 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1474-207A>G single nucleotide variant not provided [RCV001566865] Chr3:38905528 [GRCh38]
Chr3:38947019 [GRCh37]
Chr3:3p22.2		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001349253.2(SCN11A):c.892+176T>C single nucleotide variant not provided [RCV001581810] Chr3:38920900 [GRCh38]
Chr3:38962391 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3952-47A>T single nucleotide variant not provided [RCV001541392] Chr3:38863346 [GRCh38]
Chr3:38904837 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.618-103G>A single nucleotide variant not provided [RCV001679768] Chr3:38925612 [GRCh38]
Chr3:38967103 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.712+271T>C single nucleotide variant not provided [RCV001724483] Chr3:38925144 [GRCh38]
Chr3:38966635 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.892+179C>G single nucleotide variant not provided [RCV001611210] Chr3:38920897 [GRCh38]
Chr3:38962388 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.2346A>G (p.Ala782=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000874300] Chr3:38896902 [GRCh38]
Chr3:38938393 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.960-55A>G single nucleotide variant not provided [RCV001645191] Chr3:38910262 [GRCh38]
Chr3:38951753 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.712+225T>C single nucleotide variant not provided [RCV001692919] Chr3:38925190 [GRCh38]
Chr3:38966681 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.864T>C (p.Cys288=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002540129] Chr3:38921104 [GRCh38]
Chr3:38962595 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.712+55T>A single nucleotide variant not provided [RCV001574212] Chr3:38925360 [GRCh38]
Chr3:38966851 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1498C>G (p.Arg500Gly) single nucleotide variant not provided [RCV001584031] Chr3:38905297 [GRCh38]
Chr3:38946788 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1817AGA[1] (p.Lys607del) microsatellite not provided [RCV000762108] Chr3:38903885..38903887 [GRCh38]
Chr3:38945376..38945378 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3536T>A (p.Leu1179Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001046536] Chr3:38871668 [GRCh38]
Chr3:38913159 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.53C>T (p.Pro18Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001068125] Chr3:38950310 [GRCh38]
Chr3:38991801 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.618-42G>A single nucleotide variant not provided [RCV001649286] Chr3:38925551 [GRCh38]
Chr3:38967042 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.327G>T (p.Leu109Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001066288] Chr3:38946848 [GRCh38]
Chr3:38988339 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3814-166A>G single nucleotide variant not provided [RCV001708130] Chr3:38867624 [GRCh38]
Chr3:38909115 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.3337G>A (p.Gly1113Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001044938] Chr3:38880006 [GRCh38]
Chr3:38921497 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1473+147T>C single nucleotide variant not provided [RCV001570614] Chr3:38907802 [GRCh38]
Chr3:38949293 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1842+204G>A single nucleotide variant not provided [RCV001582110] Chr3:38903661 [GRCh38]
Chr3:38945152 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.712+62A>G single nucleotide variant not provided [RCV001585511] Chr3:38925353 [GRCh38]
Chr3:38966844 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3144C>T (p.Thr1048=) single nucleotide variant not provided [RCV000998058] Chr3:38883308 [GRCh38]
Chr3:38924799 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3394-148C>T single nucleotide variant not provided [RCV001678708] Chr3:38872442 [GRCh38]
Chr3:38913933 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.617+301_617+302dup duplication not provided [RCV001576020] Chr3:38926487..38926488 [GRCh38]
Chr3:38967978..38967979 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.267+14C>G single nucleotide variant not provided [RCV001678830] Chr3:38950082 [GRCh38]
Chr3:38991573 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1497A>G (p.Lys499=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000902772] Chr3:38905298 [GRCh38]
Chr3:38946789 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1437T>C (p.Pro479=) single nucleotide variant not provided [RCV000906953] Chr3:38907985 [GRCh38]
Chr3:38949476 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4959G>A (p.Leu1653=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000879776]|SCN11A-related condition [RCV003908394] Chr3:38847111 [GRCh38]
Chr3:38888602 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.63C>T (p.Ser21=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000877470] Chr3:38950300 [GRCh38]
Chr3:38991791 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1665C>T (p.Leu555=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001422467] Chr3:38904042 [GRCh38]
Chr3:38945533 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1102-5T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001482376] Chr3:38909199 [GRCh38]
Chr3:38950690 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.219C>G (p.Leu73=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000936741] Chr3:38950144 [GRCh38]
Chr3:38991635 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4266A>G (p.Gln1422=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003768836] Chr3:38850542 [GRCh38]
Chr3:38892033 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.267+9T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000877667] Chr3:38950087 [GRCh38]
Chr3:38991578 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1696G>A (p.Val566Ile) single nucleotide variant not provided [RCV000877507] Chr3:38904011 [GRCh38]
Chr3:38945502 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.601A>T (p.Ile201Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000864270]|Inborn genetic diseases [RCV002352517]|not provided [RCV001354389] Chr3:38926819 [GRCh38]
Chr3:38968310 [GRCh37]
Chr3:3p22.2		 benign|likely benign|uncertain significance
NM_001349253.2(SCN11A):c.2340G>A (p.Ala780=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001464877]|not provided [RCV003438555] Chr3:38896908 [GRCh38]
Chr3:38938399 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2359T>C (p.Cys787Arg) single nucleotide variant Familial episodic pain syndrome with predominantly lower limb involvement [RCV001336146]|Hereditary sensory and autonomic neuropathy type 7 [RCV000876672]|not provided [RCV001692312] Chr3:38896889 [GRCh38]
Chr3:38938380 [GRCh37]
Chr3:3p22.2		 benign|likely benign|uncertain significance
NM_001349253.2(SCN11A):c.268-5T>G single nucleotide variant not provided [RCV000879545] Chr3:38946912 [GRCh38]
Chr3:38988403 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2022+9C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000983615] Chr3:38899885 [GRCh38]
Chr3:38941376 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3006C>T (p.Gly1002=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000950996]|SCN11A-related condition [RCV003943028] Chr3:38885346 [GRCh38]
Chr3:38926837 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.4208G>A (p.Trp1403Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001040436] Chr3:38850600 [GRCh38]
Chr3:38892091 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2902A>G (p.Met968Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001061453] Chr3:38886172 [GRCh38]
Chr3:38927663 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3393+1G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001061775] Chr3:38879949 [GRCh38]
Chr3:38921440 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.340C>T (p.Pro114Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001061865] Chr3:38946835 [GRCh38]
Chr3:38988326 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1525C>T (p.His509Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001058785]|Inborn genetic diseases [RCV002393282] Chr3:38905270 [GRCh38]
Chr3:38946761 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1054A>G (p.Met352Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001039212]|Inborn genetic diseases [RCV002400233]|not specified [RCV002282432] Chr3:38910113 [GRCh38]
Chr3:38951604 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.119C>G (p.Ser40Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001058969] Chr3:38950244 [GRCh38]
Chr3:38991735 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3382A>T (p.Ile1128Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001049790] Chr3:38879961 [GRCh38]
Chr3:38921452 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3386T>C (p.Ile1129Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001051490] Chr3:38879957 [GRCh38]
Chr3:38921448 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.19C>G (p.Pro7Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001053564]|not provided [RCV001553226] Chr3:38950344 [GRCh38]
Chr3:38991835 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.4328-3G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001042495] Chr3:38847745 [GRCh38]
Chr3:38889236 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2725G>T (p.Val909Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001059269] Chr3:38894643 [GRCh38]
Chr3:38936134 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3066C>T (p.Gly1022=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001037979] Chr3:38883386 [GRCh38]
Chr3:38924877 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.2938G>A (p.Asp980Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001048477] Chr3:38886136 [GRCh38]
Chr3:38927627 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4031C>A (p.Pro1344His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001060743] Chr3:38863220 [GRCh38]
Chr3:38904711 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1820A>G (p.Lys607Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001040321] Chr3:38903887 [GRCh38]
Chr3:38945378 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1223A>G (p.Lys408Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000821576]|Inborn genetic diseases [RCV002363164] Chr3:38909073 [GRCh38]
Chr3:38950564 [GRCh37]
Chr3:3p22.2		 benign|uncertain significance
NM_001349253.2(SCN11A):c.3421A>G (p.Met1141Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000798509]|not provided [RCV003141787] Chr3:38872267 [GRCh38]
Chr3:38913758 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4327+2T>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000800559] Chr3:38850479 [GRCh38]
Chr3:38891970 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2008C>G (p.Arg670Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000805894] Chr3:38899908 [GRCh38]
Chr3:38941399 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2524G>C (p.Ala842Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790197] Chr3:38894844 [GRCh38]
Chr3:38936335 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3411C>T (p.Leu1137=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000927832] Chr3:38872277 [GRCh38]
Chr3:38913768 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.294G>A (p.Arg98=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000910215] Chr3:38946881 [GRCh38]
Chr3:38988372 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2184T>C (p.Asn728=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001476488] Chr3:38897064 [GRCh38]
Chr3:38938555 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3220-4T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001402032] Chr3:38880127 [GRCh38]
Chr3:38921618 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.51C>G (p.Arg17=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001444367] Chr3:38950312 [GRCh38]
Chr3:38991803 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1105C>T (p.Leu369=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000874012]|SCN11A-related condition [RCV003930409] Chr3:38909191 [GRCh38]
Chr3:38950682 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3220-7A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001495749] Chr3:38880130 [GRCh38]
Chr3:38921621 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3480G>A (p.Gln1160=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001448005] Chr3:38872208 [GRCh38]
Chr3:38913699 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3760-6T>C single nucleotide variant not provided [RCV000920877] Chr3:38870750 [GRCh38]
Chr3:38912241 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3078C>T (p.Cys1026=) single nucleotide variant not provided [RCV000901980] Chr3:38883374 [GRCh38]
Chr3:38924865 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2820T>C (p.Pro940=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000980129] Chr3:38894548 [GRCh38]
Chr3:38936039 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4509A>G (p.Leu1503=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002066394] Chr3:38847561 [GRCh38]
Chr3:38889052 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.600C>T (p.Ser200=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001425691] Chr3:38926820 [GRCh38]
Chr3:38968311 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.642C>T (p.Ile214=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002539984] Chr3:38925485 [GRCh38]
Chr3:38966976 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2705C>T (p.Ser902Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003779952]|Inborn genetic diseases [RCV003266489] Chr3:38894663 [GRCh38]
Chr3:38936154 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5007A>G (p.Val1669=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001428769] Chr3:38847063 [GRCh38]
Chr3:38888554 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3391_3393+7del deletion Hereditary sensory and autonomic neuropathy type 7 [RCV000817522] Chr3:38879943..38879952 [GRCh38]
Chr3:38921434..38921443 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.268-3C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000820010]|Inborn genetic diseases [RCV002434011]|SCN11A-related condition [RCV003948008]|not provided [RCV001702723] Chr3:38946910 [GRCh38]
Chr3:38988401 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.1403C>A (p.Ser468Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000818307] Chr3:38908019 [GRCh38]
Chr3:38949510 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3631A>G (p.Thr1211Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000814686] Chr3:38871573 [GRCh38]
Chr3:38913064 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3736G>T (p.Ala1246Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000819511] Chr3:38871468 [GRCh38]
Chr3:38912959 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4441C>T (p.Arg1481Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000819924] Chr3:38847629 [GRCh38]
Chr3:38889120 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1621G>A (p.Glu541Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000820302] Chr3:38904086 [GRCh38]
Chr3:38945577 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1964A>T (p.Asp655Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000820450] Chr3:38899952 [GRCh38]
Chr3:38941443 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1576G>C (p.Val526Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000820984] Chr3:38905219 [GRCh38]
Chr3:38946710 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5242A>G (p.Met1748Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000794704] Chr3:38846828 [GRCh38]
Chr3:38888319 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2109C>G (p.Ser703Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000798586] Chr3:38897139 [GRCh38]
Chr3:38938630 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1095T>G (p.Tyr365Ter) single nucleotide variant not specified [RCV000825447] Chr3:38910072 [GRCh38]
Chr3:38951563 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2546C>G (p.Thr849Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000800314]|Inborn genetic diseases [RCV002424845] Chr3:38894822 [GRCh38]
Chr3:38936313 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4931C>T (p.Ser1644Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000794123] Chr3:38847139 [GRCh38]
Chr3:38888630 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5036G>A (p.Arg1679His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000794795] Chr3:38847034 [GRCh38]
Chr3:38888525 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1970T>C (p.Met657Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000801942]|Inborn genetic diseases [RCV002534692]|not provided [RCV002261213] Chr3:38899946 [GRCh38]
Chr3:38941437 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.261T>A (p.Asn87Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000802257] Chr3:38950102 [GRCh38]
Chr3:38991593 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1842G>A (p.Leu614=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000796297] Chr3:38903865 [GRCh38]
Chr3:38945356 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2342A>G (p.Asn781Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000798928] Chr3:38896906 [GRCh38]
Chr3:38938397 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.854C>T (p.Ser285Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000803132] Chr3:38921114 [GRCh38]
Chr3:38962605 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.364G>A (p.Ala122Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000803215] Chr3:38946811 [GRCh38]
Chr3:38988302 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3118G>A (p.Val1040Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000803957] Chr3:38883334 [GRCh38]
Chr3:38924825 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3850G>A (p.Gly1284Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000804221] Chr3:38867422 [GRCh38]
Chr3:38908913 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2596C>T (p.Gln866Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000804555] Chr3:38894772 [GRCh38]
Chr3:38936263 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5015T>C (p.Leu1672Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000803308] Chr3:38847055 [GRCh38]
Chr3:38888546 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1498C>T (p.Arg500Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000808907]|Inborn genetic diseases [RCV002390622]|not provided [RCV003389739] Chr3:38905297 [GRCh38]
Chr3:38946788 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2661G>A (p.Met887Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000809656]|Inborn genetic diseases [RCV002424894] Chr3:38894707 [GRCh38]
Chr3:38936198 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2395A>G (p.Lys799Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000805714]|Inborn genetic diseases [RCV002453801] Chr3:38896853 [GRCh38]
Chr3:38938344 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2404-5C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000960387]|Inborn genetic diseases [RCV002454190]|not provided [RCV001815462] Chr3:38894969 [GRCh38]
Chr3:38936460 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.3132C>A (p.Asn1044Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000811138] Chr3:38883320 [GRCh38]
Chr3:38924811 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2521C>T (p.Arg841Trp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000817392]|Inborn genetic diseases [RCV002537421]|not provided [RCV002508265] Chr3:38894847 [GRCh38]
Chr3:38936338 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.4309G>A (p.Val1437Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001044405]|not provided [RCV000998055] Chr3:38850499 [GRCh38]
Chr3:38891990 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.2042C>A (p.Ala681Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790196] Chr3:38897206 [GRCh38]
Chr3:38938697 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4057-1G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000790199]|Hereditary sensory and autonomic neuropathy type 7 [RCV001869233] Chr3:38850752 [GRCh38]
Chr3:38892243 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5306C>T (p.Pro1769Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000794665] Chr3:38846764 [GRCh38]
Chr3:38888255 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4646C>T (p.Thr1549Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000795641] Chr3:38847424 [GRCh38]
Chr3:38888915 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2381T>C (p.Ile794Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000801313]|Inborn genetic diseases [RCV002458464] Chr3:38896867 [GRCh38]
Chr3:38938358 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2776G>A (p.Val926Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000806647]|not provided [RCV003437430] Chr3:38894592 [GRCh38]
Chr3:38936083 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.2912A>C (p.Glu971Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000807591] Chr3:38886162 [GRCh38]
Chr3:38927653 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2474G>A (p.Gly825Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000818497] Chr3:38894894 [GRCh38]
Chr3:38936385 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3393+5G>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001045001] Chr3:38879945 [GRCh38]
Chr3:38921436 [GRCh37]
Chr3:3p22.2		 uncertain significance
NC_000003.12:g.(?_37452365)_(38950372_?)del deletion Brugada syndrome [RCV000823258] Chr3:37452365..38950372 [GRCh38]
Chr3:37493856..38991863 [GRCh37]
Chr3:3p22.2		 pathogenic
NM_001349253.2(SCN11A):c.3137G>A (p.Arg1046Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000823053]|not provided [RCV003151822] Chr3:38883315 [GRCh38]
Chr3:38924806 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5084G>A (p.Gly1695Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000795168]|Inborn genetic diseases [RCV002345751] Chr3:38846986 [GRCh38]
Chr3:38888477 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3449G>T (p.Arg1150Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000803225] Chr3:38872239 [GRCh38]
Chr3:38913730 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.367A>G (p.Ile123Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000805056]|Inborn genetic diseases [RCV002453793] Chr3:38946808 [GRCh38]
Chr3:38988299 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4397G>A (p.Arg1466His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000808725] Chr3:38847673 [GRCh38]
Chr3:38889164 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.516del (p.Phe172fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV000811321] Chr3:38926904 [GRCh38]
Chr3:38968395 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.763A>C (p.Asn255His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000874743]|Inborn genetic diseases [RCV002390828] Chr3:38921205 [GRCh38]
Chr3:38962696 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.2223G>A (p.Pro741=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000978828] Chr3:38897025 [GRCh38]
Chr3:38938516 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4966C>G (p.Pro1656Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000798945]|not provided [RCV003320748] Chr3:38847104 [GRCh38]
Chr3:38888595 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790194]|Hereditary sensory and autonomic neuropathy type 7 [RCV000864879]|Inborn genetic diseases [RCV002422676]|not provided [RCV001358464] Chr3:38909039 [GRCh38]
Chr3:38950530 [GRCh37]
Chr3:3p22.2		 benign|likely benign|uncertain significance
NM_001349253.2(SCN11A):c.2122C>T (p.Leu708=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001502775] Chr3:38897126 [GRCh38]
Chr3:38938617 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1320T>C (p.Ile440=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001421534] Chr3:38908102 [GRCh38]
Chr3:38949593 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1019C>T (p.Thr340Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000809534] Chr3:38910148 [GRCh38]
Chr3:38951639 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1602G>T (p.Lys534Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000814424] Chr3:38905193 [GRCh38]
Chr3:38946684 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1934A>G (p.Asp645Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000814804] Chr3:38899982 [GRCh38]
Chr3:38941473 [GRCh37]
Chr3:3p22.2		 uncertain significance
NC_000003.12:g.(?_38925395)_(38925529_?)del deletion Hereditary sensory and autonomic neuropathy type 7 [RCV000807932] Chr3:38925395..38925529 [GRCh38]
Chr3:38966886..38967020 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5280T>A (p.Asn1760Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000872945]|Inborn genetic diseases [RCV002346010] Chr3:38846790 [GRCh38]
Chr3:38888281 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.665G>A (p.Arg222His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002554846]|not provided [RCV001092244] Chr3:38925462 [GRCh38]
Chr3:38966953 [GRCh37]
Chr3:3p22.2		 pathogenic|likely pathogenic
NM_001349253.2(SCN11A):c.2423C>A (p.Ala808Asp) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000991311] Chr3:38894945 [GRCh38]
Chr3:38936436 [GRCh37]
Chr3:3p22.2		 likely pathogenic
NM_001349253.2(SCN11A):c.5046C>T (p.Cys1682=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001064937]|SCN11A-related condition [RCV003963028] Chr3:38847024 [GRCh38]
Chr3:38888515 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.4628G>A (p.Cys1543Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000870732]|Inborn genetic diseases [RCV002336823]|Sensory neuropathy [RCV001004020] Chr3:38847442 [GRCh38]
Chr3:38888933 [GRCh37]
Chr3:3p22.2		 likely pathogenic|likely benign
NM_001349253.2(SCN11A):c.3655A>G (p.Ile1219Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002001545] Chr3:38871549 [GRCh38]
Chr3:38913040 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.7G>C (p.Asp3His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001228787]|Inborn genetic diseases [RCV002418788]|not provided [RCV001586073] Chr3:38950356 [GRCh38]
Chr3:38991847 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.121A>G (p.Lys41Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001219971] Chr3:38950242 [GRCh38]
Chr3:38991733 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2311G>A (p.Glu771Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001203022] Chr3:38896937 [GRCh38]
Chr3:38938428 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3745G>A (p.Ala1249Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001215789] Chr3:38871459 [GRCh38]
Chr3:38912950 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2705C>A (p.Ser902Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001233329]|Inborn genetic diseases [RCV002436912] Chr3:38894663 [GRCh38]
Chr3:38936154 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.712+1G>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001213821] Chr3:38925414 [GRCh38]
Chr3:38966905 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3043C>T (p.Pro1015Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001239096]|Inborn genetic diseases [RCV002447189]|not provided [RCV001751472] Chr3:38885309 [GRCh38]
Chr3:38926800 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.607A>T (p.Ile203Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001224440] Chr3:38926813 [GRCh38]
Chr3:38968304 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5147C>G (p.Pro1716Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001222913] Chr3:38846923 [GRCh38]
Chr3:38888414 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.386+6C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001224823] Chr3:38946783 [GRCh38]
Chr3:38988274 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1249A>G (p.Lys417Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001227165] Chr3:38909047 [GRCh38]
Chr3:38950538 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4486T>C (p.Ser1496Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001240095] Chr3:38847584 [GRCh38]
Chr3:38889075 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1480C>T (p.Leu494Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001209860]|Inborn genetic diseases [RCV002393472] Chr3:38905315 [GRCh38]
Chr3:38946806 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2897T>C (p.Ile966Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001223406] Chr3:38886177 [GRCh38]
Chr3:38927668 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3652A>G (p.Thr1218Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001240559] Chr3:38871552 [GRCh38]
Chr3:38913043 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2944C>T (p.Arg982Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001210186]|not provided [RCV001773470]|not specified [RCV002307700] Chr3:38886130 [GRCh38]
Chr3:38927621 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5233C>T (p.Arg1745Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001228864] Chr3:38846837 [GRCh38]
Chr3:38888328 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3727G>A (p.Val1243Met) single nucleotide variant not provided [RCV000998057] Chr3:38871477 [GRCh38]
Chr3:38912968 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3040C>T (p.Gln1014Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001232991] Chr3:38885312 [GRCh38]
Chr3:38926803 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5234G>A (p.Arg1745Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001208014] Chr3:38846836 [GRCh38]
Chr3:38888327 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4049G>A (p.Arg1350Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001211723]|Inborn genetic diseases [RCV002322029] Chr3:38863202 [GRCh38]
Chr3:38904693 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.998T>G (p.Ile333Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001230446] Chr3:38910169 [GRCh38]
Chr3:38951660 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3064+85A>G single nucleotide variant not provided [RCV001545083] Chr3:38885203 [GRCh38]
Chr3:38926694 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4849C>A (p.Pro1617Thr) single nucleotide variant not provided [RCV001577929] Chr3:38847221 [GRCh38]
Chr3:38888712 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.-7-389A>G single nucleotide variant not provided [RCV001571008] Chr3:38950758 [GRCh38]
Chr3:38992249 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1473+31A>G single nucleotide variant not provided [RCV001590784] Chr3:38907918 [GRCh38]
Chr3:38949409 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3813+210G>A single nucleotide variant not provided [RCV001617697] Chr3:38870481 [GRCh38]
Chr3:38911972 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.3814-219G>T single nucleotide variant not provided [RCV001695154] Chr3:38867677 [GRCh38]
Chr3:38909168 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.893-248AG[2] microsatellite not provided [RCV001635826] Chr3:38920244..38920245 [GRCh38]
Chr3:38961735..38961736 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.3952-323G>A single nucleotide variant not provided [RCV001555517] Chr3:38863622 [GRCh38]
Chr3:38905113 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.267+15dup duplication not provided [RCV001596521] Chr3:38950069..38950070 [GRCh38]
Chr3:38991560..38991561 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.488+71A>G single nucleotide variant not provided [RCV001688495] Chr3:38945340 [GRCh38]
Chr3:38986831 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1603+267A>C single nucleotide variant not provided [RCV001537460] Chr3:38904925 [GRCh38]
Chr3:38946416 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.960-327_960-326del deletion not provided [RCV001659213] Chr3:38910533..38910534 [GRCh38]
Chr3:38952024..38952025 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.2403+23_2403+24dup duplication not provided [RCV001685306] Chr3:38896808..38896809 [GRCh38]
Chr3:38938299..38938300 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.4056+29G>T single nucleotide variant not provided [RCV001562866] Chr3:38863166 [GRCh38]
Chr3:38904657 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2419A>G (p.Ile807Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001868385]|not provided [RCV001700626] Chr3:38894949 [GRCh38]
Chr3:38936440 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.267+16G>C single nucleotide variant not provided [RCV001557588] Chr3:38950080 [GRCh38]
Chr3:38991571 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4328-250A>C single nucleotide variant not provided [RCV001563059] Chr3:38847992 [GRCh38]
Chr3:38889483 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3064+214G>A single nucleotide variant not provided [RCV001572584] Chr3:38885074 [GRCh38]
Chr3:38926565 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.267+33T>G single nucleotide variant not provided [RCV001530728] Chr3:38950063 [GRCh38]
Chr3:38991554 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.268-263C>T single nucleotide variant not provided [RCV001590807] Chr3:38947170 [GRCh38]
Chr3:38988661 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.*100C>A single nucleotide variant not provided [RCV001566263] Chr3:38846594 [GRCh38]
Chr3:38888085 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.893-63dup duplication not provided [RCV001673492] Chr3:38920063..38920064 [GRCh38]
Chr3:38961554..38961555 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.3394-184T>C single nucleotide variant not provided [RCV001691774] Chr3:38872478 [GRCh38]
Chr3:38913969 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.2403+23dup duplication Familial episodic pain syndrome with predominantly lower limb involvement [RCV001807516]|Hereditary sensory and autonomic neuropathy type 7 [RCV001807515]|not provided [RCV001715407] Chr3:38896808..38896809 [GRCh38]
Chr3:38938299..38938300 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.2549T>C (p.Leu850Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000872862]|Inborn genetic diseases [RCV002427186]|SCN11A-related condition [RCV003908287] Chr3:38894819 [GRCh38]
Chr3:38936310 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1848C>T (p.Phe616=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001417590] Chr3:38900068 [GRCh38]
Chr3:38941559 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2847C>G (p.Leu949=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001453360] Chr3:38886227 [GRCh38]
Chr3:38927718 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1300-9A>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000896230] Chr3:38908131 [GRCh38]
Chr3:38949622 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3136C>T (p.Arg1046Trp) single nucleotide variant Familial episodic pain syndrome with predominantly lower limb involvement [RCV000853495]|Hereditary sensory and autonomic neuropathy type 7 [RCV002536197]|Inborn genetic diseases [RCV002319949] Chr3:38883316 [GRCh38]
Chr3:38924807 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2649G>C (p.Leu883=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001416635] Chr3:38894719 [GRCh38]
Chr3:38936210 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1299+9A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001501412] Chr3:38908988 [GRCh38]
Chr3:38950479 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2799T>C (p.Asn933=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001452139] Chr3:38894569 [GRCh38]
Chr3:38936060 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3447A>G (p.Leu1149=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001413489] Chr3:38872241 [GRCh38]
Chr3:38913732 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1604-10T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001435971] Chr3:38904113 [GRCh38]
Chr3:38945604 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.5124A>G (p.Glu1708=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001403212]|not provided [RCV003432834] Chr3:38846946 [GRCh38]
Chr3:38888437 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.882G>A (p.Pro294=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000886276] Chr3:38921086 [GRCh38]
Chr3:38962577 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.702A>G (p.Ser234=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001858553] Chr3:38925425 [GRCh38]
Chr3:38966916 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4153G>A (p.Ala1385Thr) single nucleotide variant not provided [RCV000953947] Chr3:38850655 [GRCh38]
Chr3:38892146 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.5292C>T (p.Asn1764=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000941806] Chr3:38846778 [GRCh38]
Chr3:38888269 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2688G>T (p.Glu896Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000876244]|Inborn genetic diseases [RCV002434152] Chr3:38894680 [GRCh38]
Chr3:38936171 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2076G>A (p.Lys692=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001404661] Chr3:38897172 [GRCh38]
Chr3:38938663 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.582A>G (p.Pro194=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001412243] Chr3:38926838 [GRCh38]
Chr3:38968329 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1731G>A (p.Pro577=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002066395] Chr3:38903976 [GRCh38]
Chr3:38945467 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3471G>A (p.Ala1157=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000927012] Chr3:38872217 [GRCh38]
Chr3:38913708 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2478G>A (p.Glu826=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002542164] Chr3:38894890 [GRCh38]
Chr3:38936381 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3448C>T (p.Arg1150Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001242058] Chr3:38872240 [GRCh38]
Chr3:38913731 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1929T>G (p.Ile643Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001214243] Chr3:38899987 [GRCh38]
Chr3:38941478 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3470C>T (p.Ala1157Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001225991] Chr3:38872218 [GRCh38]
Chr3:38913709 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1751C>G (p.Thr584Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001244776]|not provided [RCV001751491] Chr3:38903956 [GRCh38]
Chr3:38945447 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2644C>T (p.Pro882Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001236324] Chr3:38894724 [GRCh38]
Chr3:38936215 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.854C>G (p.Ser285Trp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001222671] Chr3:38921114 [GRCh38]
Chr3:38962605 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.401T>A (p.Phe134Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001226995] Chr3:38945498 [GRCh38]
Chr3:38986989 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.425A>G (p.Asn142Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001227003] Chr3:38945474 [GRCh38]
Chr3:38986965 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.347A>T (p.Asn116Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001212869] Chr3:38946828 [GRCh38]
Chr3:38988319 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.88C>G (p.Arg30Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001243548] Chr3:38950275 [GRCh38]
Chr3:38991766 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.743G>A (p.Arg248His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001243550]|not provided [RCV003142213] Chr3:38921225 [GRCh38]
Chr3:38962716 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3085T>C (p.Cys1029Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001219930]|Inborn genetic diseases [RCV002322063] Chr3:38883367 [GRCh38]
Chr3:38924858 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.4427T>C (p.Leu1476Pro) single nucleotide variant not provided [RCV001092243] Chr3:38847643 [GRCh38]
Chr3:38889134 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.841C>G (p.Leu281Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001243678] Chr3:38921127 [GRCh38]
Chr3:38962618 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2480C>T (p.Ala827Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001245466] Chr3:38894888 [GRCh38]
Chr3:38936379 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.240C>G (p.Asp80Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001243601] Chr3:38950123 [GRCh38]
Chr3:38991614 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2455A>G (p.Arg819Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001237943] Chr3:38894913 [GRCh38]
Chr3:38936404 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4014dup (p.Leu1339fs) duplication Hereditary sensory and autonomic neuropathy type 7 [RCV001241658] Chr3:38863236..38863237 [GRCh38]
Chr3:38904727..38904728 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3116G>A (p.Trp1039Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001068181] Chr3:38883336 [GRCh38]
Chr3:38924827 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1389T>A (p.Asn463Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001225501] Chr3:38908033 [GRCh38]
Chr3:38949524 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3237C>T (p.His1079=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002542118] Chr3:38880106 [GRCh38]
Chr3:38921597 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3916G>A (p.Val1306Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001048616]|Inborn genetic diseases [RCV003160148]|not provided [RCV000998056] Chr3:38867356 [GRCh38]
Chr3:38908847 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3084A>G (p.Pro1028=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001501382] Chr3:38883368 [GRCh38]
Chr3:38924859 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4398C>T (p.Arg1466=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000935080] Chr3:38847672 [GRCh38]
Chr3:38889163 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.645C>T (p.Thr215=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV000935455] Chr3:38925482 [GRCh38]
Chr3:38966973 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.267+33del deletion not provided [RCV001557105] Chr3:38950063 [GRCh38]
Chr3:38991554 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.267+18G>C single nucleotide variant not provided [RCV001637623] Chr3:38950078 [GRCh38]
Chr3:38991569 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.3219+245A>G single nucleotide variant not provided [RCV001559402] Chr3:38882988 [GRCh38]
Chr3:38924479 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.712+276A>G single nucleotide variant not provided [RCV001559932] Chr3:38925139 [GRCh38]
Chr3:38966630 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2023-268C>A single nucleotide variant not provided [RCV001546082] Chr3:38897493 [GRCh38]
Chr3:38938984 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2403+44C>A single nucleotide variant not provided [RCV001560309] Chr3:38896801 [GRCh38]
Chr3:38938292 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.267+19G>C single nucleotide variant not provided [RCV001560560] Chr3:38950077 [GRCh38]
Chr3:38991568 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4529T>C (p.Ile1510Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002569355]|not provided [RCV002467092] Chr3:38847541 [GRCh38]
Chr3:38889032 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4894A>G (p.Lys1632Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002470227]|Hereditary sensory and autonomic neuropathy type 7 [RCV003775520] Chr3:38847176 [GRCh38]
Chr3:38888667 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.618-4G>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003106703] Chr3:38925513 [GRCh38]
Chr3:38967004 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.662T>C (p.Leu221Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001043356] Chr3:38925465 [GRCh38]
Chr3:38966956 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2158A>T (p.Met720Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001065344] Chr3:38897090 [GRCh38]
Chr3:38938581 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2950-65C>T single nucleotide variant not provided [RCV001591551] Chr3:38885467 [GRCh38]
Chr3:38926958 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3496-125A>G single nucleotide variant not provided [RCV001591552] Chr3:38871833 [GRCh38]
Chr3:38913324 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2404-33T>C single nucleotide variant not provided [RCV001621004] Chr3:38894997 [GRCh38]
Chr3:38936488 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.386+60C>T single nucleotide variant not provided [RCV001716970] Chr3:38946729 [GRCh38]
Chr3:38988220 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.617+315del deletion not provided [RCV001716261] Chr3:38926488 [GRCh38]
Chr3:38967979 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.387-52C>T single nucleotide variant not provided [RCV001660977] Chr3:38945564 [GRCh38]
Chr3:38987055 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.-7-173G>T single nucleotide variant not provided [RCV001696668] Chr3:38950542 [GRCh38]
Chr3:38992033 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1604-202G>A single nucleotide variant not provided [RCV001590245] Chr3:38904305 [GRCh38]
Chr3:38945796 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1842+46_1842+50del deletion not provided [RCV001598167] Chr3:38903815..38903819 [GRCh38]
Chr3:38945306..38945310 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.713-153C>T single nucleotide variant not provided [RCV001661198] Chr3:38921408 [GRCh38]
Chr3:38962899 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.893-167A>G single nucleotide variant not provided [RCV001719663] Chr3:38920168 [GRCh38]
Chr3:38961659 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.2836-125A>C single nucleotide variant not provided [RCV001656576] Chr3:38886363 [GRCh38]
Chr3:38927854 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.267+73G>A single nucleotide variant not provided [RCV001590687] Chr3:38950023 [GRCh38]
Chr3:38991514 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.267+27T>G single nucleotide variant not provided [RCV001620703] Chr3:38950069 [GRCh38]
Chr3:38991560 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.268-254G>A single nucleotide variant not provided [RCV001635900] Chr3:38947161 [GRCh38]
Chr3:38988652 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.-7-247T>C single nucleotide variant not provided [RCV001698909] Chr3:38950616 [GRCh38]
Chr3:38992107 [GRCh37]
Chr3:3p22.2		 benign
NC_000003.12:g.(?_37452365)_(38950372_?)dup duplication Heterotaxy, visceral, 4, autosomal [RCV001031367] Chr3:37493856..38991863 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1666G>A (p.Val556Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001068311]|Inborn genetic diseases [RCV003363098] Chr3:38904041 [GRCh38]
Chr3:38945532 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.2023-129A>G single nucleotide variant not provided [RCV001667823] Chr3:38897354 [GRCh38]
Chr3:38938845 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.3065-261C>A single nucleotide variant not provided [RCV001587518] Chr3:38883648 [GRCh38]
Chr3:38925139 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.618-128G>A single nucleotide variant not provided [RCV001567487] Chr3:38925637 [GRCh38]
Chr3:38967128 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.617+202T>A single nucleotide variant not provided [RCV001574953] Chr3:38926601 [GRCh38]
Chr3:38968092 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1474-60T>A single nucleotide variant not provided [RCV001666854] Chr3:38905381 [GRCh38]
Chr3:38946872 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.4057-265T>A single nucleotide variant not provided [RCV001585265] Chr3:38851016 [GRCh38]
Chr3:38892507 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1300-94A>G single nucleotide variant not provided [RCV001693143] Chr3:38908216 [GRCh38]
Chr3:38949707 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.267+33_267+34del deletion not provided [RCV001713779] Chr3:38950062..38950063 [GRCh38]
Chr3:38991553..38991554 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.4592T>C (p.Ile1531Thr) single nucleotide variant not provided [RCV001092241] Chr3:38847478 [GRCh38]
Chr3:38888969 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3393+29A>C single nucleotide variant not provided [RCV001707220] Chr3:38879921 [GRCh38]
Chr3:38921412 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.617+301dup duplication not provided [RCV001616862] Chr3:38926487..38926488 [GRCh38]
Chr3:38967978..38967979 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1300-18C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002073272]|not provided [RCV001700850] Chr3:38908140 [GRCh38]
Chr3:38949631 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.3495+115C>A single nucleotide variant not provided [RCV001714799] Chr3:38872078 [GRCh38]
Chr3:38913569 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1101+120A>G single nucleotide variant not provided [RCV001667669] Chr3:38909946 [GRCh38]
Chr3:38951437 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.489-131T>G single nucleotide variant not provided [RCV001611766] Chr3:38927062 [GRCh38]
Chr3:38968553 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.712+45T>C single nucleotide variant not provided [RCV001583136] Chr3:38925370 [GRCh38]
Chr3:38966861 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.387-208G>T single nucleotide variant not provided [RCV001583200] Chr3:38945720 [GRCh38]
Chr3:38987211 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.386+167G>A single nucleotide variant not provided [RCV001614517] Chr3:38946622 [GRCh38]
Chr3:38988113 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.267+27del deletion not provided [RCV001582190] Chr3:38950069 [GRCh38]
Chr3:38991560 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.*164A>G single nucleotide variant not provided [RCV001534331] Chr3:38846530 [GRCh38]
Chr3:38888021 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1842+268T>G single nucleotide variant not provided [RCV001690205] Chr3:38903597 [GRCh38]
Chr3:38945088 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.*215A>T single nucleotide variant not provided [RCV001678975] Chr3:38846479 [GRCh38]
Chr3:38887970 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1889C>T (p.Ala630Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001071799] Chr3:38900027 [GRCh38]
Chr3:38941518 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.618-195G>C single nucleotide variant not provided [RCV001692632] Chr3:38925704 [GRCh38]
Chr3:38967195 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.713-12C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002073227]|not provided [RCV001690317]|not specified [RCV001700799] Chr3:38921267 [GRCh38]
Chr3:38962758 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.267+26del deletion not provided [RCV001694683] Chr3:38950070 [GRCh38]
Chr3:38991561 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.268-110del deletion not provided [RCV001648603] Chr3:38947017 [GRCh38]
Chr3:38988508 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1299+269T>C single nucleotide variant not provided [RCV001690602] Chr3:38908728 [GRCh38]
Chr3:38950219 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.4909G>A (p.Ala1637Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001070543] Chr3:38847161 [GRCh38]
Chr3:38888652 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1842+176C>T single nucleotide variant not provided [RCV001610847] Chr3:38903689 [GRCh38]
Chr3:38945180 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.-7-413G>A single nucleotide variant not provided [RCV001696439] Chr3:38950782 [GRCh38]
Chr3:38992273 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.2022+190T>C single nucleotide variant not provided [RCV001651634] Chr3:38899704 [GRCh38]
Chr3:38941195 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1473+77T>G single nucleotide variant not provided [RCV001724423] Chr3:38907872 [GRCh38]
Chr3:38949363 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.3394-322G>A single nucleotide variant not provided [RCV001583945] Chr3:38872616 [GRCh38]
Chr3:38914107 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3952-2A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001214055] Chr3:38863301 [GRCh38]
Chr3:38904792 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4913C>T (p.Thr1638Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001235553] Chr3:38847157 [GRCh38]
Chr3:38888648 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4062A>T (p.Lys1354Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001049198] Chr3:38850746 [GRCh38]
Chr3:38892237 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2344G>A (p.Ala782Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001052603] Chr3:38896904 [GRCh38]
Chr3:38938395 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4109T>G (p.Ile1370Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001035523]|Inborn genetic diseases [RCV003160206] Chr3:38850699 [GRCh38]
Chr3:38892190 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3296A>G (p.His1099Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001060406] Chr3:38880047 [GRCh38]
Chr3:38921538 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3466C>T (p.Arg1156Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001232368]|Inborn genetic diseases [RCV003166422]|not provided [RCV003883582] Chr3:38872222 [GRCh38]
Chr3:38913713 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4048C>T (p.Arg1350Trp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001220290] Chr3:38863203 [GRCh38]
Chr3:38904694 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5107A>G (p.Met1703Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001056688] Chr3:38846963 [GRCh38]
Chr3:38888454 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2618G>A (p.Cys873Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001060683] Chr3:38894750 [GRCh38]
Chr3:38936241 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4915C>G (p.Gln1639Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001060759] Chr3:38847155 [GRCh38]
Chr3:38888646 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.881C>T (p.Pro294Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001057274]|Inborn genetic diseases [RCV002445302]|not provided [RCV003141994] Chr3:38921087 [GRCh38]
Chr3:38962578 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.920C>T (p.Ser307Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001061312] Chr3:38919974 [GRCh38]
Chr3:38961465 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2485A>G (p.Lys829Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001050858] Chr3:38894883 [GRCh38]
Chr3:38936374 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1421C>G (p.Ser474Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001057589]|Inborn genetic diseases [RCV002393279] Chr3:38908001 [GRCh38]
Chr3:38949492 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4576T>C (p.Ser1526Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001234050] Chr3:38847494 [GRCh38]
Chr3:38888985 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4075G>A (p.Val1359Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001040178] Chr3:38850733 [GRCh38]
Chr3:38892224 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3495+5A>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001217220] Chr3:38872188 [GRCh38]
Chr3:38913679 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4555T>C (p.Phe1519Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001235234]|Inborn genetic diseases [RCV002563250] Chr3:38847515 [GRCh38]
Chr3:38889006 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3814-3C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001040630]|Inborn genetic diseases [RCV002354997] Chr3:38867461 [GRCh38]
Chr3:38908952 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.149C>T (p.Pro50Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001034013] Chr3:38950214 [GRCh38]
Chr3:38991705 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1078T>C (p.Ser360Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001233945] Chr3:38910089 [GRCh38]
Chr3:38951580 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4867T>C (p.Phe1623Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001059509]|Inborn genetic diseases [RCV002339296] Chr3:38847203 [GRCh38]
Chr3:38888694 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3439C>T (p.Arg1147Trp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001228466] Chr3:38872249 [GRCh38]
Chr3:38913740 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3083C>T (p.Pro1028Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001064154]|Inborn genetic diseases [RCV002319656] Chr3:38883369 [GRCh38]
Chr3:38924860 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5051A>T (p.Asp1684Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001249237]|Hereditary sensory and autonomic neuropathy type 7 [RCV002568695] Chr3:38847019 [GRCh38]
Chr3:38888510 [GRCh37]
Chr3:3p22.2		 uncertain significance|not provided
NM_001349253.2(SCN11A):c.4770C>G (p.Ile1590Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001249322]|not provided [RCV001544632] Chr3:38847300 [GRCh38]
Chr3:38888791 [GRCh37]
Chr3:3p22.2		 uncertain significance|not provided
NM_001349253.2(SCN11A):c.3790T>C (p.Tyr1264His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001040073]|not provided [RCV003490020] Chr3:38870714 [GRCh38]
Chr3:38912205 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3459G>C (p.Arg1153Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001054410] Chr3:38872229 [GRCh38]
Chr3:38913720 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4064G>A (p.Cys1355Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001036182]|Hereditary sensory and autonomic neuropathy type 7 [RCV003333121] Chr3:38850744 [GRCh38]
Chr3:38892235 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1043C>T (p.Ser348Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001211584] Chr3:38910124 [GRCh38]
Chr3:38951615 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3332C>T (p.Ala1111Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001230064] Chr3:38880011 [GRCh38]
Chr3:38921502 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2531G>A (p.Cys844Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001055762] Chr3:38894837 [GRCh38]
Chr3:38936328 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3856A>T (p.Ile1286Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001233204] Chr3:38867416 [GRCh38]
Chr3:38908907 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2959G>A (p.Val987Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001233553] Chr3:38885393 [GRCh38]
Chr3:38926884 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.374T>C (p.Val125Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001042134] Chr3:38946801 [GRCh38]
Chr3:38988292 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2804A>C (p.Gln935Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001214244] Chr3:38894564 [GRCh38]
Chr3:38936055 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2994T>G (p.Asp998Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001215692] Chr3:38885358 [GRCh38]
Chr3:38926849 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.41G>A (p.Arg14Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001034020] Chr3:38950322 [GRCh38]
Chr3:38991813 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1915C>T (p.Arg639Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001214680] Chr3:38900001 [GRCh38]
Chr3:38941492 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3917T>A (p.Val1306Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001261164] Chr3:38867355 [GRCh38]
Chr3:38908846 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2351C>G (p.Ser784Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003122068] Chr3:38896897 [GRCh38]
Chr3:38938388 [GRCh37]
Chr3:3p22.2		 pathogenic|uncertain significance
NM_001349253.2(SCN11A):c.1255_1256insGA (p.Lys419fs) insertion Hereditary sensory and autonomic neuropathy type 7 [RCV001300416] Chr3:38909040..38909041 [GRCh38]
Chr3:38950531..38950532 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4933G>A (p.Ala1645Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001314605] Chr3:38847137 [GRCh38]
Chr3:38888628 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2655G>A (p.Met885Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001340021] Chr3:38894713 [GRCh38]
Chr3:38936204 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.357_359del (p.Arg119del) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV001339374] Chr3:38946816..38946818 [GRCh38]
Chr3:38988307..38988309 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5266C>G (p.Gln1756Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001296021] Chr3:38846804 [GRCh38]
Chr3:38888295 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.323C>G (p.Ala108Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001308347]|Inborn genetic diseases [RCV002447316] Chr3:38946852 [GRCh38]
Chr3:38988343 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1001A>C (p.Asn334Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001301414] Chr3:38910166 [GRCh38]
Chr3:38951657 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2287C>T (p.Arg763Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001296367] Chr3:38896961 [GRCh38]
Chr3:38938452 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1532A>T (p.Asp511Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001300039] Chr3:38905263 [GRCh38]
Chr3:38946754 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4414C>T (p.Arg1472Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001297233] Chr3:38847656 [GRCh38]
Chr3:38889147 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4640T>C (p.Ile1547Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001343377]|Inborn genetic diseases [RCV002341707] Chr3:38847430 [GRCh38]
Chr3:38888921 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.1108C>T (p.Arg370Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001326074] Chr3:38909188 [GRCh38]
Chr3:38950679 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2932A>G (p.Ile978Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001340846]|Inborn genetic diseases [RCV002438779] Chr3:38886142 [GRCh38]
Chr3:38927633 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.941G>T (p.Gly314Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001342795]|not provided [RCV002512151] Chr3:38919953 [GRCh38]
Chr3:38961444 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4014A>G (p.Lys1338=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001438290]|not provided [RCV001310490] Chr3:38863237 [GRCh38]
Chr3:38904728 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1710del (p.Arg571fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV001304581] Chr3:38903997 [GRCh38]
Chr3:38945488 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4701T>C (p.Cys1567=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001397147] Chr3:38847369 [GRCh38]
Chr3:38888860 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1101+6C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001315744] Chr3:38910060 [GRCh38]
Chr3:38951551 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2173del (p.Arg725fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV001352103] Chr3:38897075 [GRCh38]
Chr3:38938566 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5116A>G (p.Met1706Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001317194]|Inborn genetic diseases [RCV002350581] Chr3:38846954 [GRCh38]
Chr3:38888445 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5346G>A (p.Gly1782=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001422970] Chr3:38846724 [GRCh38]
Chr3:38888215 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4321A>C (p.Ile1441Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001368610] Chr3:38850487 [GRCh38]
Chr3:38891978 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3000G>A (p.Gln1000=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001307123] Chr3:38885352 [GRCh38]
Chr3:38926843 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4626C>G (p.Leu1542=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001413149] Chr3:38847444 [GRCh38]
Chr3:38888935 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.814C>A (p.Gln272Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001359601] Chr3:38921154 [GRCh38]
Chr3:38962645 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1843-8C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001423072] Chr3:38900081 [GRCh38]
Chr3:38941572 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2529T>C (p.Phe843=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001396180] Chr3:38894839 [GRCh38]
Chr3:38936330 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1678T>A (p.Cys560Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001362583]|Inborn genetic diseases [RCV003169812] Chr3:38904029 [GRCh38]
Chr3:38945520 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.4978G>A (p.Ala1660Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001312932]|Inborn genetic diseases [RCV002341629] Chr3:38847092 [GRCh38]
Chr3:38888583 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.4381C>T (p.Leu1461Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001360858] Chr3:38847689 [GRCh38]
Chr3:38889180 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.793A>T (p.Ser265Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001373144] Chr3:38921175 [GRCh38]
Chr3:38962666 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.395G>T (p.Ser132Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001322767] Chr3:38945504 [GRCh38]
Chr3:38986995 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3693C>A (p.Phe1231Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001364615] Chr3:38871511 [GRCh38]
Chr3:38913002 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3236A>G (p.His1079Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001362910] Chr3:38880107 [GRCh38]
Chr3:38921598 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2222C>G (p.Pro741Arg) single nucleotide variant not provided [RCV001355920] Chr3:38897026 [GRCh38]
Chr3:38938517 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2365A>G (p.Ile789Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001369714] Chr3:38896883 [GRCh38]
Chr3:38938374 [GRCh37]
Chr3:3p22.2		 uncertain significance
NC_000003.11:g.(?_38591802)_(38991863_?)dup duplication Hereditary sensory and autonomic neuropathy type 7 [RCV001314625] Chr3:38591802..38991863 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3467G>A (p.Arg1156His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001316604] Chr3:38872221 [GRCh38]
Chr3:38913712 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1913G>T (p.Arg638Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001323005] Chr3:38900003 [GRCh38]
Chr3:38941494 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5075G>T (p.Arg1692Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001323022] Chr3:38846995 [GRCh38]
Chr3:38888486 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.541dup (p.Arg181fs) duplication Hereditary sensory and autonomic neuropathy type 7 [RCV001344929] Chr3:38926878..38926879 [GRCh38]
Chr3:38968369..38968370 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.89G>A (p.Arg30Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001365286]|Inborn genetic diseases [RCV002377531]|not provided [RCV003136033] Chr3:38950274 [GRCh38]
Chr3:38991765 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.3171G>C (p.Trp1057Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001338802] Chr3:38883281 [GRCh38]
Chr3:38924772 [GRCh37]
Chr3:3p22.2		 uncertain significance
NC_000003.11:g.(?_37493856)_(38991863_?)dup duplication Heterotaxy, visceral, 4, autosomal [RCV001324195] Chr3:37493856..38991863 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4787T>C (p.Val1596Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001347236] Chr3:38847283 [GRCh38]
Chr3:38888774 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2669G>A (p.Gly890Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001300612] Chr3:38894699 [GRCh38]
Chr3:38936190 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.862T>C (p.Cys288Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001372642]|Inborn genetic diseases [RCV003355445] Chr3:38921106 [GRCh38]
Chr3:38962597 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4621A>G (p.Met1541Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001297537] Chr3:38847449 [GRCh38]
Chr3:38888940 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1666G>C (p.Val556Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001339987] Chr3:38904041 [GRCh38]
Chr3:38945532 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.489G>T (p.Glu163Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001359230] Chr3:38926931 [GRCh38]
Chr3:38968422 [GRCh37]
Chr3:3p22.2		 uncertain significance
NC_000003.11:g.(?_38966886)_(38967020_?)del deletion Neuropathy, hereditary sensory and autonomic, type VII [RCV001300827] Chr3:38966886..38967020 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5206G>A (p.Gly1736Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001294876] Chr3:38846864 [GRCh38]
Chr3:38888355 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3010G>A (p.Gly1004Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001298605] Chr3:38885342 [GRCh38]
Chr3:38926833 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.859G>A (p.Asp287Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001373150] Chr3:38921109 [GRCh38]
Chr3:38962600 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2870C>T (p.Thr957Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001373256]|Inborn genetic diseases [RCV002438876] Chr3:38886204 [GRCh38]
Chr3:38927695 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4030C>A (p.Pro1344Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001363969] Chr3:38863221 [GRCh38]
Chr3:38904712 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2519G>A (p.Arg840His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001314671] Chr3:38894849 [GRCh38]
Chr3:38936340 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4406G>A (p.Arg1469Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001366651] Chr3:38847664 [GRCh38]
Chr3:38889155 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2713_2719dup (p.Leu907fs) duplication Hereditary sensory and autonomic neuropathy type 7 [RCV001326460] Chr3:38894648..38894649 [GRCh38]
Chr3:38936139..38936140 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.644C>G (p.Thr215Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001295654] Chr3:38925483 [GRCh38]
Chr3:38966974 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4966C>T (p.Pro1656Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001367017] Chr3:38847104 [GRCh38]
Chr3:38888595 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5108T>A (p.Met1703Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001367168]|not provided [RCV001664852] Chr3:38846962 [GRCh38]
Chr3:38888453 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.935T>C (p.Met312Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001367185]|Inborn genetic diseases [RCV002548587] Chr3:38919959 [GRCh38]
Chr3:38961450 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4377G>A (p.Pro1459=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001412651] Chr3:38847693 [GRCh38]
Chr3:38889184 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.279G>A (p.Val93=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001413376] Chr3:38946896 [GRCh38]
Chr3:38988387 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.257G>A (p.Arg86Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001296266] Chr3:38950106 [GRCh38]
Chr3:38991597 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.575G>A (p.Arg192Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001325713] Chr3:38926845 [GRCh38]
Chr3:38968336 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4261A>T (p.Arg1421Trp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001307117] Chr3:38850547 [GRCh38]
Chr3:38892038 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4735A>C (p.Ile1579Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001365404] Chr3:38847335 [GRCh38]
Chr3:38888826 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1913G>A (p.Arg638His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001370022] Chr3:38900003 [GRCh38]
Chr3:38941494 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1061G>A (p.Arg354Gln) single nucleotide variant Familial episodic pain syndrome with predominantly lower limb involvement [RCV002471090]|Hereditary sensory and autonomic neuropathy type 7 [RCV001348794]|Inborn genetic diseases [RCV002412094] Chr3:38910106 [GRCh38]
Chr3:38951597 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2734G>A (p.Asp912Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001370233] Chr3:38894634 [GRCh38]
Chr3:38936125 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1625C>T (p.Pro542Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001349800] Chr3:38904082 [GRCh38]
Chr3:38945573 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4912A>G (p.Thr1638Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001326598] Chr3:38847158 [GRCh38]
Chr3:38888649 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3564C>T (p.Phe1188=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001394067] Chr3:38871640 [GRCh38]
Chr3:38913131 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1876C>T (p.Leu626=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001424577] Chr3:38900040 [GRCh38]
Chr3:38941531 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1233T>G (p.Ala411=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001492465] Chr3:38909063 [GRCh38]
Chr3:38950554 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.712+9C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001483006] Chr3:38925406 [GRCh38]
Chr3:38966897 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.256C>A (p.Arg86=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001511085]|not provided [RCV001647303] Chr3:38950107 [GRCh38]
Chr3:38991598 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.795C>T (p.Ser265=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001439208] Chr3:38921173 [GRCh38]
Chr3:38962664 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2013C>T (p.Ser671=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001454865] Chr3:38899903 [GRCh38]
Chr3:38941394 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2836-10T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001475618] Chr3:38886248 [GRCh38]
Chr3:38927739 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1125C>T (p.Tyr375=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001452350] Chr3:38909171 [GRCh38]
Chr3:38950662 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1305G>A (p.Leu435=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001480237] Chr3:38908117 [GRCh38]
Chr3:38949608 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4590C>T (p.Asp1530=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001463672] Chr3:38847480 [GRCh38]
Chr3:38888971 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.879C>T (p.Asn293=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001393329] Chr3:38921089 [GRCh38]
Chr3:38962580 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3942G>A (p.Gln1314=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001489656] Chr3:38867330 [GRCh38]
Chr3:38908821 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1809C>T (p.Ala603=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001493461] Chr3:38903898 [GRCh38]
Chr3:38945389 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1887T>C (p.Ile629=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001493578] Chr3:38900029 [GRCh38]
Chr3:38941520 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2775C>T (p.Asp925=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001514480] Chr3:38894593 [GRCh38]
Chr3:38936084 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.2802A>G (p.Ala934=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001514575] Chr3:38894566 [GRCh38]
Chr3:38936057 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.4056+141C>T single nucleotide variant not provided [RCV001536782] Chr3:38863054 [GRCh38]
Chr3:38904545 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2241G>A (p.Arg747=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001445972] Chr3:38897007 [GRCh38]
Chr3:38938498 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1825T>C (p.Leu609=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001407089] Chr3:38903882 [GRCh38]
Chr3:38945373 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4884A>G (p.Glu1628=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001415735] Chr3:38847186 [GRCh38]
Chr3:38888677 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4782T>C (p.Ile1594=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001393151] Chr3:38847288 [GRCh38]
Chr3:38888779 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1653A>G (p.Ala551=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001400251] Chr3:38904054 [GRCh38]
Chr3:38945545 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.720G>A (p.Lys240=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001447079] Chr3:38921248 [GRCh38]
Chr3:38962739 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3306C>A (p.Ile1102=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001398261] Chr3:38880037 [GRCh38]
Chr3:38921528 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1584C>T (p.Ile528=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001408233] Chr3:38905211 [GRCh38]
Chr3:38946702 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2736T>C (p.Asp912=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001403404] Chr3:38894632 [GRCh38]
Chr3:38936123 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1452T>C (p.Ser484=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001417756] Chr3:38907970 [GRCh38]
Chr3:38949461 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.5070C>T (p.Thr1690=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001440340] Chr3:38847000 [GRCh38]
Chr3:38888491 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3958G>A (p.Gly1320Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001447855]|Inborn genetic diseases [RCV003160806] Chr3:38863293 [GRCh38]
Chr3:38904784 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.267+8_267+9del deletion Hereditary sensory and autonomic neuropathy type 7 [RCV001427182] Chr3:38950087..38950088 [GRCh38]
Chr3:38991578..38991579 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2169T>C (p.Phe723=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001411369] Chr3:38897079 [GRCh38]
Chr3:38938570 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1473+12C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002071925]|not provided [RCV001535201]|not specified [RCV001700783] Chr3:38907937 [GRCh38]
Chr3:38949428 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.267+28_267+30dup duplication not provided [RCV001545656] Chr3:38950063..38950064 [GRCh38]
Chr3:38991554..38991555 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1644A>G (p.Glu548=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001490181] Chr3:38904063 [GRCh38]
Chr3:38945554 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2994T>C (p.Asp998=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001450760] Chr3:38885358 [GRCh38]
Chr3:38926849 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1102-175T>C single nucleotide variant not provided [RCV001707008] Chr3:38909369 [GRCh38]
Chr3:38950860 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1728C>T (p.Asp576=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001465497] Chr3:38903979 [GRCh38]
Chr3:38945470 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.268-320A>G single nucleotide variant not provided [RCV001687667] Chr3:38947227 [GRCh38]
Chr3:38988718 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1770C>T (p.Asn590=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001465526] Chr3:38903937 [GRCh38]
Chr3:38945428 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.5013C>T (p.Asp1671=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001455381] Chr3:38847057 [GRCh38]
Chr3:38888548 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2712A>G (p.Pro904=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001469595] Chr3:38894656 [GRCh38]
Chr3:38936147 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.99C>T (p.Ile33=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001500063] Chr3:38950264 [GRCh38]
Chr3:38991755 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3759+175_3759+176insA insertion not provided [RCV001670154] Chr3:38871269..38871270 [GRCh38]
Chr3:38912760..38912761 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.2403+22C>A single nucleotide variant not provided [RCV001673643] Chr3:38896823 [GRCh38]
Chr3:38938314 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.513T>C (p.Ile171=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001487405] Chr3:38926907 [GRCh38]
Chr3:38968398 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.268-143C>T single nucleotide variant not provided [RCV001716475] Chr3:38947050 [GRCh38]
Chr3:38988541 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.2950-84A>C single nucleotide variant not provided [RCV001673904] Chr3:38885486 [GRCh38]
Chr3:38926977 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.893-45A>G single nucleotide variant Familial episodic pain syndrome with predominantly lower limb involvement [RCV001807523]|Hereditary sensory and autonomic neuropathy type 7 [RCV001807522]|not provided [RCV001714239] Chr3:38920046 [GRCh38]
Chr3:38961537 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.4057-6del deletion Hereditary sensory and autonomic neuropathy type 7 [RCV001480656]|Inborn genetic diseases [RCV002324067] Chr3:38850757 [GRCh38]
Chr3:38892248 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.3759+10G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001517586]|not provided [RCV001692410] Chr3:38871435 [GRCh38]
Chr3:38912926 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.1299+147C>T single nucleotide variant not provided [RCV001694865] Chr3:38908850 [GRCh38]
Chr3:38950341 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.4057-10T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001484494] Chr3:38850761 [GRCh38]
Chr3:38892252 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3220-313A>T single nucleotide variant not provided [RCV001590556] Chr3:38880436 [GRCh38]
Chr3:38921927 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4512C>T (p.Leu1504=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001489447] Chr3:38847558 [GRCh38]
Chr3:38889049 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1299+285C>T single nucleotide variant not provided [RCV001590194] Chr3:38908712 [GRCh38]
Chr3:38950203 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.423C>T (p.Ile141=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001454162] Chr3:38945476 [GRCh38]
Chr3:38986967 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3449G>A (p.Arg1150Gln) single nucleotide variant Inborn genetic diseases [RCV002568007]|not provided [RCV001509213] Chr3:38872239 [GRCh38]
Chr3:38913730 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.618-5T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001401534] Chr3:38925514 [GRCh38]
Chr3:38967005 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3093C>T (p.Ser1031=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001500061] Chr3:38883359 [GRCh38]
Chr3:38924850 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2541A>G (p.Arg847=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001481980] Chr3:38894827 [GRCh38]
Chr3:38936318 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2724C>T (p.Gly908=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001439775] Chr3:38894644 [GRCh38]
Chr3:38936135 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1353A>G (p.Ser451=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001485999] Chr3:38908069 [GRCh38]
Chr3:38949560 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4020A>T (p.Gly1340=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001469454] Chr3:38863231 [GRCh38]
Chr3:38904722 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.378A>C (p.Ser126=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001467511]|SCN11A-related condition [RCV003956024] Chr3:38946797 [GRCh38]
Chr3:38988288 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3864C>T (p.Phe1288=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001463139]|SCN11A-related condition [RCV003920982] Chr3:38867408 [GRCh38]
Chr3:38908899 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3744C>T (p.Leu1248=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001480481] Chr3:38871460 [GRCh38]
Chr3:38912951 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.168A>G (p.Leu56=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001415690] Chr3:38950195 [GRCh38]
Chr3:38991686 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.252C>T (p.Phe84=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001517517] Chr3:38950111 [GRCh38]
Chr3:38991602 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.4797C>T (p.Tyr1599=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001517585]|not provided [RCV001676008] Chr3:38847273 [GRCh38]
Chr3:38888764 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.4056+10A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001398367] Chr3:38863185 [GRCh38]
Chr3:38904676 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1878A>G (p.Leu626=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001418352] Chr3:38900038 [GRCh38]
Chr3:38941529 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.354C>G (p.Ile118Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001480853]|Inborn genetic diseases [RCV002456840] Chr3:38946821 [GRCh38]
Chr3:38988312 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3915C>T (p.Gly1305=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001504148] Chr3:38867357 [GRCh38]
Chr3:38908848 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1695C>T (p.Cys565=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001497438] Chr3:38904012 [GRCh38]
Chr3:38945503 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.893-8del deletion Hereditary sensory and autonomic neuropathy type 7 [RCV001463950] Chr3:38920009 [GRCh38]
Chr3:38961500 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1102-19C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003108821] Chr3:38909213 [GRCh38]
Chr3:38950704 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4457T>C (p.Leu1486Pro) single nucleotide variant not provided [RCV001730439] Chr3:38847613 [GRCh38]
Chr3:38889104 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3452C>T (p.Ala1151Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003097680]|not provided [RCV002284878] Chr3:38872236 [GRCh38]
Chr3:38913727 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.267+30G>C single nucleotide variant not provided [RCV002280505] Chr3:38950066 [GRCh38]
Chr3:38991557 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3126G>A (p.Trp1042Ter) single nucleotide variant not provided [RCV001765036] Chr3:38883326 [GRCh38]
Chr3:38924817 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4086dup (p.Val1363fs) duplication not provided [RCV001771208] Chr3:38850721..38850722 [GRCh38]
Chr3:38892212..38892213 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1030A>G (p.Asn344Asp) single nucleotide variant not provided [RCV001773970] Chr3:38910137 [GRCh38]
Chr3:38951628 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1982T>C (p.Leu661Pro) single nucleotide variant not provided [RCV001754622] Chr3:38899934 [GRCh38]
Chr3:38941425 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2011T>C (p.Ser671Pro) single nucleotide variant not provided [RCV001751860] Chr3:38899905 [GRCh38]
Chr3:38941396 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2666G>C (p.Arg889Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002538778]|not provided [RCV001765136] Chr3:38894702 [GRCh38]
Chr3:38936193 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.276G>T (p.Met92Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003771997]|Inborn genetic diseases [RCV002440857]|not provided [RCV001757030] Chr3:38946899 [GRCh38]
Chr3:38988390 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3348G>C (p.Lys1116Asn) single nucleotide variant not provided [RCV001756724] Chr3:38879995 [GRCh38]
Chr3:38921486 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4612G>T (p.Ala1538Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001912166] Chr3:38847458 [GRCh38]
Chr3:38888949 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4117A>G (p.Ile1373Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002041877]|Inborn genetic diseases [RCV002324233] Chr3:38850691 [GRCh38]
Chr3:38892182 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3835G>C (p.Glu1279Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002006223] Chr3:38867437 [GRCh38]
Chr3:38908928 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2536G>A (p.Val846Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002004094] Chr3:38894832 [GRCh38]
Chr3:38936323 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.794_797dup (p.Ile266fs) duplication Hereditary sensory and autonomic neuropathy type 7 [RCV001969997] Chr3:38921170..38921171 [GRCh38]
Chr3:38962661..38962662 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2173C>T (p.Arg725Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001895795] Chr3:38897075 [GRCh38]
Chr3:38938566 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3116G>C (p.Trp1039Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001987727] Chr3:38883336 [GRCh38]
Chr3:38924827 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.429C>T (p.Cys143=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001896938] Chr3:38945470 [GRCh38]
Chr3:38986961 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2660T>A (p.Met887Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001966487] Chr3:38894708 [GRCh38]
Chr3:38936199 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5232T>G (p.Phe1744Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001863796] Chr3:38846838 [GRCh38]
Chr3:38888329 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4122del (p.Leu1375fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV001914918] Chr3:38850686 [GRCh38]
Chr3:38892177 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4084A>G (p.Ile1362Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001949110] Chr3:38850724 [GRCh38]
Chr3:38892215 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4301G>T (p.Cys1434Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002023319] Chr3:38850507 [GRCh38]
Chr3:38891998 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4038A>T (p.Lys1346Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001896111] Chr3:38863213 [GRCh38]
Chr3:38904704 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1309G>C (p.Ala437Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001948428] Chr3:38908113 [GRCh38]
Chr3:38949604 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1256del (p.Lys419fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV001872773] Chr3:38909040 [GRCh38]
Chr3:38950531 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4056+17G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001965819] Chr3:38863178 [GRCh38]
Chr3:38904669 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.415G>A (p.Val139Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001945135] Chr3:38945484 [GRCh38]
Chr3:38986975 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2416_2418del (p.Phe806del) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV001983344]|Inborn genetic diseases [RCV003289310] Chr3:38894950..38894952 [GRCh38]
Chr3:38936441..38936443 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5087G>A (p.Gly1696Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001967768] Chr3:38846983 [GRCh38]
Chr3:38888474 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3309G>A (p.Leu1103=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001983660] Chr3:38880034 [GRCh38]
Chr3:38921525 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.430G>A (p.Val144Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001983816] Chr3:38945469 [GRCh38]
Chr3:38986960 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.703G>A (p.Val235Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001910713]|Inborn genetic diseases [RCV002361243] Chr3:38925424 [GRCh38]
Chr3:38966915 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1604-1G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002002612] Chr3:38904104 [GRCh38]
Chr3:38945595 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2329A>G (p.Met777Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002006185]|Inborn genetic diseases [RCV002458940] Chr3:38896919 [GRCh38]
Chr3:38938410 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4309G>C (p.Val1437Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002042634] Chr3:38850499 [GRCh38]
Chr3:38891990 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1612A>G (p.Lys538Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001948825]|Inborn genetic diseases [RCV002388897] Chr3:38904095 [GRCh38]
Chr3:38945586 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4669C>T (p.Leu1557Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001947139] Chr3:38847401 [GRCh38]
Chr3:38888892 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1134C>A (p.Phe378Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002041704] Chr3:38909162 [GRCh38]
Chr3:38950653 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3220-3C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001966175] Chr3:38880126 [GRCh38]
Chr3:38921617 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2745G>C (p.Trp915Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001894671]|Inborn genetic diseases [RCV002440949] Chr3:38894623 [GRCh38]
Chr3:38936114 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4860A>C (p.Glu1620Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001863422] Chr3:38847210 [GRCh38]
Chr3:38888701 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2337A>C (p.Glu779Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001987072] Chr3:38896911 [GRCh38]
Chr3:38938402 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.239A>T (p.Asp80Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001985007] Chr3:38950124 [GRCh38]
Chr3:38991615 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1370dup (p.Arg458fs) duplication Hereditary sensory and autonomic neuropathy type 7 [RCV002023442] Chr3:38908051..38908052 [GRCh38]
Chr3:38949542..38949543 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1967T>C (p.Val656Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002042740] Chr3:38899949 [GRCh38]
Chr3:38941440 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1141A>T (p.Ile381Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001928115] Chr3:38909155 [GRCh38]
Chr3:38950646 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2435A>G (p.Asn812Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001893543] Chr3:38894933 [GRCh38]
Chr3:38936424 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2590C>T (p.Pro864Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002005531] Chr3:38894778 [GRCh38]
Chr3:38936269 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1333C>A (p.Leu445Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001913192] Chr3:38908089 [GRCh38]
Chr3:38949580 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.73G>A (p.Ala25Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001985569] Chr3:38950290 [GRCh38]
Chr3:38991781 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2413C>T (p.Leu805Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001912550]|Inborn genetic diseases [RCV002458745] Chr3:38894955 [GRCh38]
Chr3:38936446 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4328G>T (p.Ser1443Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001910752] Chr3:38847742 [GRCh38]
Chr3:38889233 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.865A>G (p.Lys289Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001945109] Chr3:38921103 [GRCh38]
Chr3:38962594 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4415G>A (p.Arg1472Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002004036] Chr3:38847655 [GRCh38]
Chr3:38889146 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1090del (p.Leu364fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV002040699] Chr3:38910077 [GRCh38]
Chr3:38951568 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1120C>T (p.Leu374Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001962558] Chr3:38909176 [GRCh38]
Chr3:38950667 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.923C>T (p.Pro308Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001903332]|Inborn genetic diseases [RCV003355622] Chr3:38919971 [GRCh38]
Chr3:38961462 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.3439del (p.Arg1147fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV001944456] Chr3:38872249 [GRCh38]
Chr3:38913740 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1495A>C (p.Lys499Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001997644] Chr3:38905300 [GRCh38]
Chr3:38946791 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.737T>C (p.Leu246Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001938433] Chr3:38921231 [GRCh38]
Chr3:38962722 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.617C>T (p.Ala206Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002001221] Chr3:38926803 [GRCh38]
Chr3:38968294 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3412A>C (p.Ile1138Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001962493] Chr3:38872276 [GRCh38]
Chr3:38913767 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3761C>A (p.Ala1254Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001972953] Chr3:38870743 [GRCh38]
Chr3:38912234 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1465C>T (p.Gln489Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001944165] Chr3:38907957 [GRCh38]
Chr3:38949448 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3856A>C (p.Ile1286Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001876659] Chr3:38867416 [GRCh38]
Chr3:38908907 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1466A>G (p.Gln489Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001899642]|Inborn genetic diseases [RCV002551656] Chr3:38907956 [GRCh38]
Chr3:38949447 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3313_3315del (p.Met1105del) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV001926130] Chr3:38880028..38880030 [GRCh38]
Chr3:38921519..38921521 [GRCh37]
Chr3:3p22.2		 uncertain significance
NC_000003.11:g.(?_38924714)_(38927739_?)del deletion Hereditary sensory and autonomic neuropathy type 7 [RCV001922924] Chr3:38924714..38927739 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4848C>A (p.Asp1616Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001999341] Chr3:38847222 [GRCh38]
Chr3:38888713 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.968C>T (p.Ser323Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001958327] Chr3:38910199 [GRCh38]
Chr3:38951690 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2177G>A (p.Ser726Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001942538] Chr3:38897071 [GRCh38]
Chr3:38938562 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.648C>G (p.Ile216Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002013965] Chr3:38925479 [GRCh38]
Chr3:38966970 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2836G>A (p.Ala946Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001962296] Chr3:38886238 [GRCh38]
Chr3:38927729 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1423G>T (p.Gly475Trp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001963621]|Inborn genetic diseases [RCV002388950] Chr3:38907999 [GRCh38]
Chr3:38949490 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4499T>G (p.Ile1500Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001992369]|Inborn genetic diseases [RCV002331508] Chr3:38847571 [GRCh38]
Chr3:38889062 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.36T>A (p.Asp12Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002028141] Chr3:38950327 [GRCh38]
Chr3:38991818 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2518C>T (p.Arg840Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002027006]|Inborn genetic diseases [RCV003161260] Chr3:38894850 [GRCh38]
Chr3:38936341 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.4109T>A (p.Ile1370Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001921237] Chr3:38850699 [GRCh38]
Chr3:38892190 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.281T>C (p.Leu94Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002050747] Chr3:38946894 [GRCh38]
Chr3:38988385 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3061A>C (p.Lys1021Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001991287]|not provided [RCV002269383] Chr3:38885291 [GRCh38]
Chr3:38926782 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4327+5G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002031039]|Inborn genetic diseases [RCV002331645] Chr3:38850476 [GRCh38]
Chr3:38891967 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4762A>T (p.Ile1588Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001921934] Chr3:38847308 [GRCh38]
Chr3:38888799 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3509C>T (p.Ala1170Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001877793]|Inborn genetic diseases [RCV002334782] Chr3:38871695 [GRCh38]
Chr3:38913186 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.686C>G (p.Ala229Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001919679]|Inborn genetic diseases [RCV002361245] Chr3:38925441 [GRCh38]
Chr3:38966932 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.264T>G (p.His88Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001972053] Chr3:38950099 [GRCh38]
Chr3:38991590 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2222C>T (p.Pro741Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002047530]|Inborn genetic diseases [RCV002545722] Chr3:38897026 [GRCh38]
Chr3:38938517 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.4051C>A (p.Pro1351Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001901228] Chr3:38863200 [GRCh38]
Chr3:38904691 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.869A>C (p.Asn290Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001921554] Chr3:38921099 [GRCh38]
Chr3:38962590 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3393+1G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001936180] Chr3:38879949 [GRCh38]
Chr3:38921440 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2774A>G (p.Asp925Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002013797] Chr3:38894594 [GRCh38]
Chr3:38936085 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.620T>C (p.Ile207Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002012676] Chr3:38925507 [GRCh38]
Chr3:38966998 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.808G>A (p.Val270Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001903566] Chr3:38921160 [GRCh38]
Chr3:38962651 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2944C>G (p.Arg982Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001937443] Chr3:38886130 [GRCh38]
Chr3:38927621 [GRCh37]
Chr3:3p22.2		 uncertain significance
NC_000003.11:g.(?_38949420)_(38968442_?)del deletion Hereditary sensory and autonomic neuropathy type 7 [RCV001922925] Chr3:38949420..38968442 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4113del (p.Ile1372fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV002012659] Chr3:38850695 [GRCh38]
Chr3:38892186 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.326T>C (p.Leu109Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001930864] Chr3:38946849 [GRCh38]
Chr3:38988340 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4622T>C (p.Met1541Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001979347] Chr3:38847448 [GRCh38]
Chr3:38888939 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3911T>C (p.Ile1304Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001924428]|Inborn genetic diseases [RCV002561354] Chr3:38867361 [GRCh38]
Chr3:38908852 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.722T>C (p.Val241Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001992324] Chr3:38921246 [GRCh38]
Chr3:38962737 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1294A>G (p.Lys432Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002048165] Chr3:38909002 [GRCh38]
Chr3:38950493 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2404-6T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001960932] Chr3:38894970 [GRCh38]
Chr3:38936461 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3951+1A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002027107] Chr3:38867320 [GRCh38]
Chr3:38908811 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1942G>A (p.Val648Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002030978]|Inborn genetic diseases [RCV002407320] Chr3:38899974 [GRCh38]
Chr3:38941465 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2729G>C (p.Arg910Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001905259] Chr3:38894639 [GRCh38]
Chr3:38936130 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.876T>A (p.Ser292Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001883913] Chr3:38921092 [GRCh38]
Chr3:38962583 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1201A>G (p.Met401Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001903980] Chr3:38909095 [GRCh38]
Chr3:38950586 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5227del (p.Ala1743fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV001906502] Chr3:38846843 [GRCh38]
Chr3:38888334 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2344G>C (p.Ala782Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001960451] Chr3:38896904 [GRCh38]
Chr3:38938395 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1638_1639inv (p.Gly547Arg) inversion Hereditary sensory and autonomic neuropathy type 7 [RCV001902247] Chr3:38904068..38904069 [GRCh38]
Chr3:38945559..38945560 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.404T>C (p.Ile135Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001959271] Chr3:38945495 [GRCh38]
Chr3:38986986 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5077G>T (p.Val1693Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001898379] Chr3:38846993 [GRCh38]
Chr3:38888484 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1865C>T (p.Ala622Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002015667] Chr3:38900051 [GRCh38]
Chr3:38941542 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3578G>T (p.Cys1193Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002027602] Chr3:38871626 [GRCh38]
Chr3:38913117 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1787T>C (p.Met596Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002048873] Chr3:38903920 [GRCh38]
Chr3:38945411 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1100A>G (p.Gln367Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002047687] Chr3:38910067 [GRCh38]
Chr3:38951558 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3746C>T (p.Ala1249Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002047671]|Inborn genetic diseases [RCV002657707]|not provided [RCV002307829] Chr3:38871458 [GRCh38]
Chr3:38912949 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.803C>T (p.Ala268Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002015877] Chr3:38921165 [GRCh38]
Chr3:38962656 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.305G>A (p.Arg102His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001883022] Chr3:38946870 [GRCh38]
Chr3:38988361 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3495+5A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002047800] Chr3:38872188 [GRCh38]
Chr3:38913679 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3407C>A (p.Thr1136Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001937666] Chr3:38872281 [GRCh38]
Chr3:38913772 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3077G>A (p.Cys1026Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002030502] Chr3:38883375 [GRCh38]
Chr3:38924866 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5114C>A (p.Ala1705Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001900284] Chr3:38846956 [GRCh38]
Chr3:38888447 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2638A>T (p.Ile880Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001957435] Chr3:38894730 [GRCh38]
Chr3:38936221 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2282T>A (p.Val761Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001882059]|Inborn genetic diseases [RCV002449539] Chr3:38896966 [GRCh38]
Chr3:38938457 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2859C>A (p.Asn953Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001978412]|Inborn genetic diseases [RCV002441171] Chr3:38886215 [GRCh38]
Chr3:38927706 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3820C>G (p.Gln1274Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001932049] Chr3:38867452 [GRCh38]
Chr3:38908943 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4006A>G (p.Met1336Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001925863] Chr3:38863245 [GRCh38]
Chr3:38904736 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2143T>G (p.Phe715Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002035585] Chr3:38897105 [GRCh38]
Chr3:38938596 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.871A>G (p.Ile291Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001997726] Chr3:38921097 [GRCh38]
Chr3:38962588 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2323G>A (p.Glu775Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001884810] Chr3:38896925 [GRCh38]
Chr3:38938416 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3814-2A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001907389] Chr3:38867460 [GRCh38]
Chr3:38908951 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5225A>T (p.Lys1742Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001906503] Chr3:38846845 [GRCh38]
Chr3:38888336 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5368T>C (p.Cys1790Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001925244] Chr3:38846702 [GRCh38]
Chr3:38888193 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4016T>C (p.Leu1339Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001885612] Chr3:38863235 [GRCh38]
Chr3:38904726 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1699AAG[1] (p.Lys568del) microsatellite Hereditary sensory and autonomic neuropathy type 7 [RCV002018170] Chr3:38904003..38904005 [GRCh38]
Chr3:38945494..38945496 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2186C>T (p.Ser729Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002009480] Chr3:38897062 [GRCh38]
Chr3:38938553 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2355_2357del (p.Leu786del) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV002026183] Chr3:38896891..38896893 [GRCh38]
Chr3:38938382..38938384 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.173C>A (p.Ala58Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002029150] Chr3:38950190 [GRCh38]
Chr3:38991681 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4589A>T (p.Asp1530Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001930452] Chr3:38847481 [GRCh38]
Chr3:38888972 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1121T>C (p.Leu374Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001900899] Chr3:38909175 [GRCh38]
Chr3:38950666 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2490T>C (p.Thr830=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001934323] Chr3:38894878 [GRCh38]
Chr3:38936369 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4081G>A (p.Asp1361Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001978067]|Inborn genetic diseases [RCV002573450] Chr3:38850727 [GRCh38]
Chr3:38892218 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NC_000003.11:g.(?_16710965)_(41275270_?)del deletion not provided [RCV001958625] Chr3:16710965..41275270 [GRCh37]
Chr3:3p24.3-22.1		 pathogenic
NM_001349253.2(SCN11A):c.3244A>C (p.Asn1082His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001899585] Chr3:38880099 [GRCh38]
Chr3:38921590 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.520G>C (p.Ala174Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV001977072] Chr3:38926900 [GRCh38]
Chr3:38968391 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2949+17G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002111851] Chr3:38886108 [GRCh38]
Chr3:38927599 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4665C>G (p.Ser1555=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002085429] Chr3:38847405 [GRCh38]
Chr3:38888896 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.351A>C (p.Ser117=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002087366] Chr3:38946824 [GRCh38]
Chr3:38988315 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3828A>G (p.Pro1276=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002110225] Chr3:38867444 [GRCh38]
Chr3:38908935 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2517C>T (p.Phe839=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002130584] Chr3:38894851 [GRCh38]
Chr3:38936342 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2121C>A (p.Val707=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002169784] Chr3:38897127 [GRCh38]
Chr3:38938618 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1101+16T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002089681] Chr3:38910050 [GRCh38]
Chr3:38951541 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2094C>T (p.Val698=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002149258] Chr3:38897154 [GRCh38]
Chr3:38938645 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.970A>G (p.Ile324Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002164963]|Inborn genetic diseases [RCV002372841] Chr3:38910197 [GRCh38]
Chr3:38951688 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.3065-11A>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002170233] Chr3:38883398 [GRCh38]
Chr3:38924889 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1473+14A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002087789] Chr3:38907935 [GRCh38]
Chr3:38949426 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.960-13T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002166940] Chr3:38910220 [GRCh38]
Chr3:38951711 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2835+20G>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002185097] Chr3:38894513 [GRCh38]
Chr3:38936004 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3495+19T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002084894] Chr3:38872174 [GRCh38]
Chr3:38913665 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4542G>C (p.Leu1514=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002188326] Chr3:38847528 [GRCh38]
Chr3:38889019 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2293C>T (p.Leu765Phe) single nucleotide variant not provided [RCV002224830] Chr3:38896955 [GRCh38]
Chr3:38938446 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5238G>A (p.Lys1746=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002088603] Chr3:38846832 [GRCh38]
Chr3:38888323 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4392T>C (p.Ile1464=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002147835] Chr3:38847678 [GRCh38]
Chr3:38889169 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1604-16G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002128303] Chr3:38904119 [GRCh38]
Chr3:38945610 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3621C>T (p.Cys1207=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002086216] Chr3:38871583 [GRCh38]
Chr3:38913074 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1948C>T (p.Leu650Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002216155]|Inborn genetic diseases [RCV002407371]|SCN11A-related condition [RCV003933323] Chr3:38899968 [GRCh38]
Chr3:38941459 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2754A>C (p.Pro918=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002104563] Chr3:38894614 [GRCh38]
Chr3:38936105 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.180G>A (p.Arg60=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002170673] Chr3:38950183 [GRCh38]
Chr3:38991674 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.960-15G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002115538] Chr3:38910222 [GRCh38]
Chr3:38951713 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4653A>G (p.Ala1551=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002078767] Chr3:38847417 [GRCh38]
Chr3:38888908 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2343T>C (p.Asn781=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002188980] Chr3:38896905 [GRCh38]
Chr3:38938396 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1604-18T>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002215877] Chr3:38904121 [GRCh38]
Chr3:38945612 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.5079A>C (p.Val1693=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002113469] Chr3:38846991 [GRCh38]
Chr3:38888482 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2023-14G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002195420] Chr3:38897239 [GRCh38]
Chr3:38938730 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.765C>T (p.Asn255=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002172269] Chr3:38921203 [GRCh38]
Chr3:38962694 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1300-17T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002170386] Chr3:38908139 [GRCh38]
Chr3:38949630 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.450T>C (p.Pro150=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002214699] Chr3:38945449 [GRCh38]
Chr3:38986940 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3282C>T (p.Asp1094=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002152797] Chr3:38880061 [GRCh38]
Chr3:38921552 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3726T>C (p.Asn1242=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002088158] Chr3:38871478 [GRCh38]
Chr3:38912969 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3396C>T (p.Val1132=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002147751] Chr3:38872292 [GRCh38]
Chr3:38913783 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2404-19C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002092885] Chr3:38894983 [GRCh38]
Chr3:38936474 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4699T>C (p.Cys1567Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002093944] Chr3:38847371 [GRCh38]
Chr3:38888862 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3996C>T (p.Tyr1332=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002093353] Chr3:38863255 [GRCh38]
Chr3:38904746 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4770C>A (p.Ile1590=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002086069] Chr3:38847300 [GRCh38]
Chr3:38888791 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.893-20A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002167818] Chr3:38920021 [GRCh38]
Chr3:38961512 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3394-15C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002073495] Chr3:38872309 [GRCh38]
Chr3:38913800 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.892+15T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002134469] Chr3:38921061 [GRCh38]
Chr3:38962552 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1604-9C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002126750] Chr3:38904112 [GRCh38]
Chr3:38945603 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3894C>T (p.Phe1298=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002213682] Chr3:38867378 [GRCh38]
Chr3:38908869 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1665C>G (p.Leu555=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002103503] Chr3:38904042 [GRCh38]
Chr3:38945533 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3814-12A>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002157670] Chr3:38867470 [GRCh38]
Chr3:38908961 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3009T>C (p.Phe1003=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002139284] Chr3:38885343 [GRCh38]
Chr3:38926834 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.153G>T (p.Arg51=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002155822]|SCN11A-related condition [RCV003916330] Chr3:38950210 [GRCh38]
Chr3:38991701 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.960-21_960-20del microsatellite Hereditary sensory and autonomic neuropathy type 7 [RCV002175429] Chr3:38910227..38910228 [GRCh38]
Chr3:38951718..38951719 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.198T>C (p.Tyr66=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002139500] Chr3:38950165 [GRCh38]
Chr3:38991656 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2649G>T (p.Leu883=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002220898] Chr3:38894719 [GRCh38]
Chr3:38936210 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3393+12A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002156530] Chr3:38879938 [GRCh38]
Chr3:38921429 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.713-16C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002182075] Chr3:38921271 [GRCh38]
Chr3:38962762 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1101+14del deletion Hereditary sensory and autonomic neuropathy type 7 [RCV002178223] Chr3:38910052 [GRCh38]
Chr3:38951543 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.2022+11T>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002158892] Chr3:38899883 [GRCh38]
Chr3:38941374 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2304A>G (p.Glu768=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002123108] Chr3:38896944 [GRCh38]
Chr3:38938435 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2949+8T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002198013] Chr3:38886117 [GRCh38]
Chr3:38927608 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1604-18T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002082169] Chr3:38904121 [GRCh38]
Chr3:38945612 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3366G>A (p.Trp1122Ter) single nucleotide variant Familial episodic pain syndrome with predominantly lower limb involvement [RCV002204551] Chr3:38879977 [GRCh38]
Chr3:38921468 [GRCh37]
Chr3:3p22.2		 likely pathogenic
NM_001349253.2(SCN11A):c.4998A>G (p.Gln1666=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002156907] Chr3:38847072 [GRCh38]
Chr3:38888563 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.627A>G (p.Ser209=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002217643] Chr3:38925500 [GRCh38]
Chr3:38966991 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1299+8C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002099147] Chr3:38908989 [GRCh38]
Chr3:38950480 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.441T>C (p.Ala147=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002164510] Chr3:38945458 [GRCh38]
Chr3:38986949 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4074C>T (p.Leu1358=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002142583] Chr3:38850734 [GRCh38]
Chr3:38892225 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1446A>T (p.Ser482=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002103377] Chr3:38907976 [GRCh38]
Chr3:38949467 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.267+7C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002139191] Chr3:38950089 [GRCh38]
Chr3:38991580 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1347A>G (p.Glu449=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002137764] Chr3:38908075 [GRCh38]
Chr3:38949566 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.386+18C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002121793] Chr3:38946771 [GRCh38]
Chr3:38988262 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4479G>A (p.Ser1493=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002103862] Chr3:38847591 [GRCh38]
Chr3:38889082 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1101+12A>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002203965] Chr3:38910054 [GRCh38]
Chr3:38951545 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.3694T>C (p.Ser1232Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002177831] Chr3:38871510 [GRCh38]
Chr3:38913001 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1843-13T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002102659] Chr3:38900086 [GRCh38]
Chr3:38941577 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1473+19A>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002122261] Chr3:38907930 [GRCh38]
Chr3:38949421 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.959+15A>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002124260] Chr3:38919920 [GRCh38]
Chr3:38961411 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2023-17G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002136757] Chr3:38897242 [GRCh38]
Chr3:38938733 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.2022+12dup duplication Hereditary sensory and autonomic neuropathy type 7 [RCV002219909] Chr3:38899881..38899882 [GRCh38]
Chr3:38941372..38941373 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3393+20_3393+21del microsatellite Hereditary sensory and autonomic neuropathy type 7 [RCV002161055] Chr3:38879929..38879930 [GRCh38]
Chr3:38921420..38921421 [GRCh37]
Chr3:3p22.2		 likely benign
NC_000003.11:g.(?_38495814)_(38991853_?)dup duplication Brugada syndrome [RCV003109525] Chr3:38495814..38991853 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1435C>G (p.Pro479Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003113895] Chr3:38907987 [GRCh38]
Chr3:38949478 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.664C>T (p.Arg222Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003115767] Chr3:38925463 [GRCh38]
Chr3:38966954 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4564G>C (p.Val1522Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003121260] Chr3:38847506 [GRCh38]
Chr3:38888997 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2603A>G (p.Glu868Gly) single nucleotide variant not provided [RCV003120391] Chr3:38894765 [GRCh38]
Chr3:38936256 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.892+8C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003121547] Chr3:38921068 [GRCh38]
Chr3:38962559 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3368G>A (p.Cys1123Tyr) single nucleotide variant not provided [RCV002248253] Chr3:38879975 [GRCh38]
Chr3:38921466 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.712+1G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002249157]|Hereditary sensory and autonomic neuropathy type 7 [RCV003094014]|Inborn genetic diseases [RCV002363728]|not provided [RCV002261460] Chr3:38925414 [GRCh38]
Chr3:38966905 [GRCh37]
Chr3:3p22.2		 likely pathogenic|uncertain significance
NM_001349253.2(SCN11A):c.2545A>G (p.Thr849Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003094160]|See cases [RCV002252609] Chr3:38894823 [GRCh38]
Chr3:38936314 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2219G>T (p.Gly740Val) single nucleotide variant not provided [RCV002261737] Chr3:38897029 [GRCh38]
Chr3:38938520 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.-155C>T single nucleotide variant not provided [RCV002263319] Chr3:38960299 [GRCh38]
Chr3:39001790 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001349253.2(SCN11A):c.1981C>T (p.Leu661Phe) single nucleotide variant not provided [RCV003236042] Chr3:38899935 [GRCh38]
Chr3:38941426 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.445G>T (p.Gly149Trp) single nucleotide variant not provided [RCV002261738] Chr3:38945454 [GRCh38]
Chr3:38986945 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.503G>A (p.Gly168Glu) single nucleotide variant not provided [RCV003234367] Chr3:38926917 [GRCh38]
Chr3:38968408 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3629G>A (p.Gly1210Glu) single nucleotide variant Inborn genetic diseases [RCV002452342] Chr3:38871575 [GRCh38]
Chr3:38913066 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3897del (p.Thr1299_Leu1300insTer) deletion not provided [RCV002293734] Chr3:38867375 [GRCh38]
Chr3:38908866 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2512C>T (p.Arg838Ter) single nucleotide variant Inborn genetic diseases [RCV002434938] Chr3:38894856 [GRCh38]
Chr3:38936347 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2835+2392A>C single nucleotide variant not provided [RCV002293086] Chr3:38892141 [GRCh38]
Chr3:38933632 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.4330A>G (p.Thr1444Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003774804]|not provided [RCV002260813] Chr3:38847740 [GRCh38]
Chr3:38889231 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2243A>G (p.His748Arg) single nucleotide variant Inborn genetic diseases [RCV002420190] Chr3:38897005 [GRCh38]
Chr3:38938496 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3103A>G (p.Arg1035Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002297248] Chr3:38883349 [GRCh38]
Chr3:38924840 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1960G>A (p.Ala654Thr) single nucleotide variant Inborn genetic diseases [RCV002421736] Chr3:38899956 [GRCh38]
Chr3:38941447 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1454A>G (p.Asp485Gly) single nucleotide variant not provided [RCV002281364] Chr3:38907968 [GRCh38]
Chr3:38949459 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.202G>A (p.Asp68Asn) single nucleotide variant Inborn genetic diseases [RCV002419769] Chr3:38950161 [GRCh38]
Chr3:38991652 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4921A>C (p.Ile1641Leu) single nucleotide variant Inborn genetic diseases [RCV002351270] Chr3:38847149 [GRCh38]
Chr3:38888640 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4985C>T (p.Pro1662Leu) single nucleotide variant Inborn genetic diseases [RCV002351357] Chr3:38847085 [GRCh38]
Chr3:38888576 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.79A>G (p.Ile27Val) single nucleotide variant Inborn genetic diseases [RCV002419134] Chr3:38950284 [GRCh38]
Chr3:38991775 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4498A>T (p.Ile1500Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002303619] Chr3:38847572 [GRCh38]
Chr3:38889063 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2130T>G (p.Ile710Met) single nucleotide variant Inborn genetic diseases [RCV002417781] Chr3:38897118 [GRCh38]
Chr3:38938609 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2066C>G (p.Thr689Arg) single nucleotide variant Inborn genetic diseases [RCV002422039] Chr3:38897182 [GRCh38]
Chr3:38938673 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3107A>T (p.Lys1036Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002304037] Chr3:38883345 [GRCh38]
Chr3:38924836 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2908T>G (p.Ser970Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003111550]|Inborn genetic diseases [RCV002439785] Chr3:38886166 [GRCh38]
Chr3:38927657 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2671T>C (p.Ser891Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003102097]|Inborn genetic diseases [RCV002428814] Chr3:38894697 [GRCh38]
Chr3:38936188 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.70_71del (p.Leu24fs) microsatellite Inborn genetic diseases [RCV002364797] Chr3:38950292..38950293 [GRCh38]
Chr3:38991783..38991784 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4496A>G (p.Asn1499Ser) single nucleotide variant Inborn genetic diseases [RCV002328644] Chr3:38847574 [GRCh38]
Chr3:38889065 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4654G>A (p.Gly1552Ser) single nucleotide variant Inborn genetic diseases [RCV002330462] Chr3:38847416 [GRCh38]
Chr3:38888907 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2915A>G (p.Asp972Gly) single nucleotide variant Inborn genetic diseases [RCV002439867]|not provided [RCV003317608] Chr3:38886159 [GRCh38]
Chr3:38927650 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3083C>A (p.Pro1028Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003775031]|Inborn genetic diseases [RCV002319901] Chr3:38883369 [GRCh38]
Chr3:38924860 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2759C>G (p.Ala920Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003099143]|not provided [RCV002306342] Chr3:38894609 [GRCh38]
Chr3:38936100 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2240G>A (p.Arg747Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003775150]|Inborn genetic diseases [RCV002428369] Chr3:38897008 [GRCh38]
Chr3:38938499 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2207G>C (p.Cys736Ser) single nucleotide variant Inborn genetic diseases [RCV002425802] Chr3:38897041 [GRCh38]
Chr3:38938532 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2339C>G (p.Ala780Gly) single nucleotide variant Inborn genetic diseases [RCV002448254] Chr3:38896909 [GRCh38]
Chr3:38938400 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.479A>C (p.Asp160Ala) single nucleotide variant Inborn genetic diseases [RCV002330724] Chr3:38945420 [GRCh38]
Chr3:38986911 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2866C>T (p.Pro956Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002296770] Chr3:38886208 [GRCh38]
Chr3:38927699 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3220-6T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003775079]|Inborn genetic diseases [RCV002445477] Chr3:38880129 [GRCh38]
Chr3:38921620 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4247A>G (p.Lys1416Arg) single nucleotide variant Inborn genetic diseases [RCV002329811] Chr3:38850561 [GRCh38]
Chr3:38892052 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4238G>A (p.Cys1413Tyr) single nucleotide variant Inborn genetic diseases [RCV002328165] Chr3:38850570 [GRCh38]
Chr3:38892061 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3929A>G (p.Asn1310Ser) single nucleotide variant Inborn genetic diseases [RCV002373207] Chr3:38867343 [GRCh38]
Chr3:38908834 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.58A>T (p.Thr20Ser) single nucleotide variant Inborn genetic diseases [RCV002355681] Chr3:38950305 [GRCh38]
Chr3:38991796 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4070G>C (p.Gly1357Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003102516]|Inborn genetic diseases [RCV002323041] Chr3:38850738 [GRCh38]
Chr3:38892229 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.1428del (p.Asp477fs) deletion Inborn genetic diseases [RCV002391984] Chr3:38907994 [GRCh38]
Chr3:38949485 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3062A>G (p.Lys1021Arg) single nucleotide variant Inborn genetic diseases [RCV002444231] Chr3:38885290 [GRCh38]
Chr3:38926781 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.601A>G (p.Ile201Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003098104]|Inborn genetic diseases [RCV002358094] Chr3:38926819 [GRCh38]
Chr3:38968310 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4741A>C (p.Thr1581Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002299740] Chr3:38847329 [GRCh38]
Chr3:38888820 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5062G>A (p.Ala1688Thr) single nucleotide variant Inborn genetic diseases [RCV002335804] Chr3:38847008 [GRCh38]
Chr3:38888499 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1473+6T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003095208]|Inborn genetic diseases [RCV002396965] Chr3:38907943 [GRCh38]
Chr3:38949434 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.344T>A (p.Phe115Tyr) single nucleotide variant Inborn genetic diseases [RCV002457196] Chr3:38946831 [GRCh38]
Chr3:38988322 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4858G>A (p.Glu1620Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003775978]|Inborn genetic diseases [RCV002340315] Chr3:38847212 [GRCh38]
Chr3:38888703 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.143C>T (p.Pro48Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003103693]|Inborn genetic diseases [RCV002394335] Chr3:38950220 [GRCh38]
Chr3:38991711 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4610_4611del (p.Phe1537fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV003094791]|Inborn genetic diseases [RCV002342455]|SCN11A-related condition [RCV003896135] Chr3:38847459..38847460 [GRCh38]
Chr3:38888950..38888951 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5357G>A (p.Gly1786Asp) single nucleotide variant Inborn genetic diseases [RCV002346991]|not provided [RCV003439001] Chr3:38846713 [GRCh38]
Chr3:38888204 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2716A>G (p.Thr906Ala) single nucleotide variant Inborn genetic diseases [RCV002431225] Chr3:38894652 [GRCh38]
Chr3:38936143 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2369T>G (p.Val790Gly) single nucleotide variant Inborn genetic diseases [RCV002450160] Chr3:38896879 [GRCh38]
Chr3:38938370 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5209GCT[1] (p.Ala1738del) microsatellite Inborn genetic diseases [RCV002344272] Chr3:38846856..38846858 [GRCh38]
Chr3:38888347..38888349 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3745G>C (p.Ala1249Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002295751] Chr3:38871459 [GRCh38]
Chr3:38912950 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2183A>G (p.Asn728Ser) single nucleotide variant Inborn genetic diseases [RCV002425444] Chr3:38897065 [GRCh38]
Chr3:38938556 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.267+5T>C single nucleotide variant Inborn genetic diseases [RCV002428800] Chr3:38950091 [GRCh38]
Chr3:38991582 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4034A>G (p.Gln1345Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002299286] Chr3:38863217 [GRCh38]
Chr3:38904708 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.298A>G (p.Ile100Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003775436]|Inborn genetic diseases [RCV002442301] Chr3:38946877 [GRCh38]
Chr3:38988368 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.727G>A (p.Val243Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003103382]|Inborn genetic diseases [RCV002382638] Chr3:38921241 [GRCh38]
Chr3:38962732 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4972C>T (p.Arg1658Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003102666]|Inborn genetic diseases [RCV002342846] Chr3:38847098 [GRCh38]
Chr3:38888589 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1043C>A (p.Ser348Tyr) single nucleotide variant Inborn genetic diseases [RCV002403030] Chr3:38910124 [GRCh38]
Chr3:38951615 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5017C>G (p.Pro1673Ala) single nucleotide variant Inborn genetic diseases [RCV002343125] Chr3:38847053 [GRCh38]
Chr3:38888544 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2936A>G (p.Gln979Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002296755] Chr3:38886138 [GRCh38]
Chr3:38927629 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4823A>G (p.Asn1608Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003096486]|Inborn genetic diseases [RCV002330763] Chr3:38847247 [GRCh38]
Chr3:38888738 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4143_4148del (p.Ile1381_Ser1382del) deletion Inborn genetic diseases [RCV002333157] Chr3:38850660..38850665 [GRCh38]
Chr3:38892151..38892156 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5282A>G (p.Asp1761Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002299643] Chr3:38846788 [GRCh38]
Chr3:38888279 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1081T>C (p.Trp361Arg) single nucleotide variant Inborn genetic diseases [RCV002430607] Chr3:38910086 [GRCh38]
Chr3:38951577 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4449C>G (p.Ile1483Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002295166] Chr3:38847621 [GRCh38]
Chr3:38889112 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.760G>A (p.Val254Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003075390] Chr3:38921208 [GRCh38]
Chr3:38962699 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1912C>T (p.Arg638Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003778550]|Inborn genetic diseases [RCV002684128] Chr3:38900004 [GRCh38]
Chr3:38941495 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.1692G>T (p.Leu564=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002750898] Chr3:38904015 [GRCh38]
Chr3:38945506 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1745C>A (p.Ala582Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003014562] Chr3:38903962 [GRCh38]
Chr3:38945453 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2903T>G (p.Met968Arg) single nucleotide variant Inborn genetic diseases [RCV002771689] Chr3:38886171 [GRCh38]
Chr3:38927662 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3094G>A (p.Val1032Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002903703] Chr3:38883358 [GRCh38]
Chr3:38924849 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1824G>A (p.Met608Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002839402] Chr3:38903883 [GRCh38]
Chr3:38945374 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5041C>T (p.His1681Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002838037] Chr3:38847029 [GRCh38]
Chr3:38888520 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1975T>C (p.Cys659Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002731055] Chr3:38899941 [GRCh38]
Chr3:38941432 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2590C>A (p.Pro864Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003073869] Chr3:38894778 [GRCh38]
Chr3:38936269 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2795A>T (p.Asp932Val) single nucleotide variant Inborn genetic diseases [RCV002752106] Chr3:38894573 [GRCh38]
Chr3:38936064 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2808C>A (p.Arg936=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002909001] Chr3:38894560 [GRCh38]
Chr3:38936051 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1546C>A (p.Pro516Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002839211] Chr3:38905249 [GRCh38]
Chr3:38946740 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.76del (p.Ala26fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV002819265] Chr3:38950287 [GRCh38]
Chr3:38991778 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3250C>T (p.Pro1084Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003017029] Chr3:38880093 [GRCh38]
Chr3:38921584 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.654A>G (p.Leu218=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002975598] Chr3:38925473 [GRCh38]
Chr3:38966964 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.5170A>G (p.Ile1724Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002756716] Chr3:38846900 [GRCh38]
Chr3:38888391 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4056+11T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002794940] Chr3:38863184 [GRCh38]
Chr3:38904675 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.386+16A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003076571] Chr3:38946773 [GRCh38]
Chr3:38988264 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3316G>T (p.Val1106Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003034570] Chr3:38880027 [GRCh38]
Chr3:38921518 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1356T>C (p.Tyr452=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002908650] Chr3:38908066 [GRCh38]
Chr3:38949557 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3495+1G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002819483] Chr3:38872192 [GRCh38]
Chr3:38913683 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4376C>G (p.Pro1459Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002819289] Chr3:38847694 [GRCh38]
Chr3:38889185 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4714G>A (p.Glu1572Lys) single nucleotide variant Inborn genetic diseases [RCV002859676] Chr3:38847356 [GRCh38]
Chr3:38888847 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3187A>G (p.Ile1063Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003013218] Chr3:38883265 [GRCh38]
Chr3:38924756 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4120A>G (p.Ser1374Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003777953]|Inborn genetic diseases [RCV002906562] Chr3:38850688 [GRCh38]
Chr3:38892179 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1211A>G (p.Glu404Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003075568] Chr3:38909085 [GRCh38]
Chr3:38950576 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3028G>T (p.Val1010Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002903059] Chr3:38885324 [GRCh38]
Chr3:38926815 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3526C>G (p.Pro1176Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002616077] Chr3:38871678 [GRCh38]
Chr3:38913169 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1932del (p.Phe644fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV002995180] Chr3:38899984 [GRCh38]
Chr3:38941475 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1866A>G (p.Ala622=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002756339] Chr3:38900050 [GRCh38]
Chr3:38941541 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1842+17_1842+18insAACATTACACTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC microsatellite Hereditary sensory and autonomic neuropathy type 7 [RCV002842847] Chr3:38903847..38903848 [GRCh38]
Chr3:38945338..38945339 [GRCh37]
Chr3:3p22.2		 likely benign|uncertain significance
NM_001349253.2(SCN11A):c.4550A>C (p.Asn1517Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002617644] Chr3:38847520 [GRCh38]
Chr3:38889011 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5110A>G (p.Lys1704Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003095744] Chr3:38846960 [GRCh38]
Chr3:38888451 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4322T>C (p.Ile1441Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002614670] Chr3:38850486 [GRCh38]
Chr3:38891977 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3716A>G (p.Asn1239Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002750836] Chr3:38871488 [GRCh38]
Chr3:38912979 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3857T>C (p.Ile1286Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002908175] Chr3:38867415 [GRCh38]
Chr3:38908906 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4025A>G (p.Lys1342Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002617516] Chr3:38863226 [GRCh38]
Chr3:38904717 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3272A>G (p.Asn1091Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002800261] Chr3:38880071 [GRCh38]
Chr3:38921562 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1101+1G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002640308] Chr3:38910065 [GRCh38]
Chr3:38951556 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3861C>T (p.Tyr1287=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002785428] Chr3:38867411 [GRCh38]
Chr3:38908902 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.561G>T (p.Glu187Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003055580] Chr3:38926859 [GRCh38]
Chr3:38968350 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.403A>G (p.Ile135Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002761267] Chr3:38945496 [GRCh38]
Chr3:38986987 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.919T>G (p.Ser307Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002760681] Chr3:38919975 [GRCh38]
Chr3:38961466 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4898T>A (p.Phe1633Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002780815] Chr3:38847172 [GRCh38]
Chr3:38888663 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.247C>A (p.Pro83Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003039306] Chr3:38950116 [GRCh38]
Chr3:38991607 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2950-19G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002695937] Chr3:38885421 [GRCh38]
Chr3:38926912 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2250C>T (p.His750=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002885979] Chr3:38896998 [GRCh38]
Chr3:38938489 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2166T>G (p.Leu722=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002846665] Chr3:38897082 [GRCh38]
Chr3:38938573 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.5169_5181del (p.Ile1724fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV002760774] Chr3:38846889..38846901 [GRCh38]
Chr3:38888380..38888392 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4187C>A (p.Ser1396Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002638064] Chr3:38850621 [GRCh38]
Chr3:38892112 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.211C>T (p.Arg71Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002948631] Chr3:38950152 [GRCh38]
Chr3:38991643 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4494C>T (p.Phe1498=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002795229] Chr3:38847576 [GRCh38]
Chr3:38889067 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.151C>T (p.Arg51Trp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002780380] Chr3:38950212 [GRCh38]
Chr3:38991703 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3740A>G (p.Tyr1247Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002800032] Chr3:38871464 [GRCh38]
Chr3:38912955 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.847T>G (p.Cys283Gly) single nucleotide variant Inborn genetic diseases [RCV002869373] Chr3:38921121 [GRCh38]
Chr3:38962612 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5277A>G (p.Gln1759=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003021052] Chr3:38846793 [GRCh38]
Chr3:38888284 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4222A>C (p.Ile1408Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002590321] Chr3:38850586 [GRCh38]
Chr3:38892077 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2403+18T>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002619651] Chr3:38896827 [GRCh38]
Chr3:38938318 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4328-12C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002638607] Chr3:38847754 [GRCh38]
Chr3:38889245 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.713-3C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002619247] Chr3:38921258 [GRCh38]
Chr3:38962749 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4138A>G (p.Met1380Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003036284] Chr3:38850670 [GRCh38]
Chr3:38892161 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1101+17C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003079391] Chr3:38910049 [GRCh38]
Chr3:38951540 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3457A>G (p.Arg1153Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003020605] Chr3:38872231 [GRCh38]
Chr3:38913722 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.646A>G (p.Ile216Val) single nucleotide variant Inborn genetic diseases [RCV002844620] Chr3:38925481 [GRCh38]
Chr3:38966972 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4648T>C (p.Ser1550Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002622556] Chr3:38847422 [GRCh38]
Chr3:38888913 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1818G>A (p.Glu606=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002913598] Chr3:38903889 [GRCh38]
Chr3:38945380 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.892+10C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003020707] Chr3:38921066 [GRCh38]
Chr3:38962557 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.256C>G (p.Arg86Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002638065] Chr3:38950107 [GRCh38]
Chr3:38991598 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.574C>T (p.Arg192Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003053140] Chr3:38926846 [GRCh38]
Chr3:38968337 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.161T>C (p.Leu54Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002795857] Chr3:38950202 [GRCh38]
Chr3:38991693 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1025_1047dup (p.Ala351fs) duplication Hereditary sensory and autonomic neuropathy type 7 [RCV003020272] Chr3:38910119..38910120 [GRCh38]
Chr3:38951610..38951611 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.764A>G (p.Asn255Ser) single nucleotide variant Inborn genetic diseases [RCV002887734] Chr3:38921204 [GRCh38]
Chr3:38962695 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5279A>G (p.Asn1760Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003002090] Chr3:38846791 [GRCh38]
Chr3:38888282 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4359G>C (p.Glu1453Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003017902] Chr3:38847711 [GRCh38]
Chr3:38889202 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4990A>G (p.Lys1664Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002894948] Chr3:38847080 [GRCh38]
Chr3:38888571 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3064G>A (p.Gly1022Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002663440] Chr3:38885288 [GRCh38]
Chr3:38926779 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1102-10T>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003042479] Chr3:38909204 [GRCh38]
Chr3:38950695 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.386+8T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002894467] Chr3:38946781 [GRCh38]
Chr3:38988272 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1108C>G (p.Arg370Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002745766] Chr3:38909188 [GRCh38]
Chr3:38950679 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2931C>T (p.Thr977=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002932368] Chr3:38886143 [GRCh38]
Chr3:38927634 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.5311C>T (p.Gln1771Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003058936] Chr3:38846759 [GRCh38]
Chr3:38888250 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1909T>G (p.Phe637Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002933070] Chr3:38900007 [GRCh38]
Chr3:38941498 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4618A>G (p.Ser1540Gly) single nucleotide variant Inborn genetic diseases [RCV002919609] Chr3:38847452 [GRCh38]
Chr3:38888943 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2404-9C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002933020] Chr3:38894973 [GRCh38]
Chr3:38936464 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2409C>A (p.Leu803=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003005050] Chr3:38894959 [GRCh38]
Chr3:38936450 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5053A>G (p.Ile1685Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002623398] Chr3:38847017 [GRCh38]
Chr3:38888508 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3766T>C (p.Phe1256Leu) single nucleotide variant Inborn genetic diseases [RCV002873727] Chr3:38870738 [GRCh38]
Chr3:38912229 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1861A>T (p.Ile621Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002985239] Chr3:38900055 [GRCh38]
Chr3:38941546 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.640A>G (p.Ile214Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003023051] Chr3:38925487 [GRCh38]
Chr3:38966978 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3495+16G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002642323] Chr3:38872177 [GRCh38]
Chr3:38913668 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2385G>A (p.Thr795=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002890510] Chr3:38896863 [GRCh38]
Chr3:38938354 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4532A>G (p.Tyr1511Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002890532] Chr3:38847538 [GRCh38]
Chr3:38889029 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.274A>G (p.Met92Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003084166] Chr3:38946901 [GRCh38]
Chr3:38988392 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.386+13T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002667588] Chr3:38946776 [GRCh38]
Chr3:38988267 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4045C>T (p.Pro1349Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003042538] Chr3:38863206 [GRCh38]
Chr3:38904697 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2343T>A (p.Asn781Lys) single nucleotide variant Inborn genetic diseases [RCV002954714] Chr3:38896905 [GRCh38]
Chr3:38938396 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2950-5T>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002766680] Chr3:38885407 [GRCh38]
Chr3:38926898 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3636C>T (p.Asp1212=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002932319]|SCN11A-related condition [RCV003916616] Chr3:38871568 [GRCh38]
Chr3:38913059 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1746C>A (p.Ala582=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002805435] Chr3:38903961 [GRCh38]
Chr3:38945452 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.134G>A (p.Gly45Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002918248] Chr3:38950229 [GRCh38]
Chr3:38991720 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4216G>T (p.Val1406Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002594002] Chr3:38850592 [GRCh38]
Chr3:38892083 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.705A>G (p.Val235=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002894554] Chr3:38925422 [GRCh38]
Chr3:38966913 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4056+13G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002899822] Chr3:38863182 [GRCh38]
Chr3:38904673 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.232C>G (p.Leu78Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002716049] Chr3:38950131 [GRCh38]
Chr3:38991622 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5184C>T (p.Thr1728=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003064776] Chr3:38846886 [GRCh38]
Chr3:38888377 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.960-15_960-12del microsatellite Hereditary sensory and autonomic neuropathy type 7 [RCV002900118] Chr3:38910219..38910222 [GRCh38]
Chr3:38951710..38951713 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.742C>G (p.Arg248Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003064796] Chr3:38921226 [GRCh38]
Chr3:38962717 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4481T>G (p.Leu1494Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003066057] Chr3:38847589 [GRCh38]
Chr3:38889080 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3000G>T (p.Gln1000His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002632782] Chr3:38885352 [GRCh38]
Chr3:38926843 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1603G>C (p.Glu535Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003048365] Chr3:38905192 [GRCh38]
Chr3:38946683 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4057-8T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003031996] Chr3:38850759 [GRCh38]
Chr3:38892250 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.5101G>T (p.Asp1701Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002966594] Chr3:38846969 [GRCh38]
Chr3:38888460 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2023-18T>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002938261] Chr3:38897243 [GRCh38]
Chr3:38938734 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.819G>C (p.Gln273His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003091514] Chr3:38921149 [GRCh38]
Chr3:38962640 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1635T>C (p.Pro545=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002579932] Chr3:38904072 [GRCh38]
Chr3:38945563 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3146G>A (p.Cys1049Tyr) single nucleotide variant Inborn genetic diseases [RCV002812920] Chr3:38883306 [GRCh38]
Chr3:38924797 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.97A>G (p.Ile33Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002578355] Chr3:38950266 [GRCh38]
Chr3:38991757 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.520G>A (p.Ala174Thr) single nucleotide variant Inborn genetic diseases [RCV002879101] Chr3:38926900 [GRCh38]
Chr3:38968391 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1229T>C (p.Val410Ala) single nucleotide variant Inborn genetic diseases [RCV002808871] Chr3:38909067 [GRCh38]
Chr3:38950558 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3611T>A (p.Phe1204Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002937656] Chr3:38871593 [GRCh38]
Chr3:38913084 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4344C>G (p.Thr1448=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002630029] Chr3:38847726 [GRCh38]
Chr3:38889217 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.843G>C (p.Leu281=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002746313] Chr3:38921125 [GRCh38]
Chr3:38962616 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2338G>A (p.Ala780Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002922628] Chr3:38896910 [GRCh38]
Chr3:38938401 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2630G>T (p.Ser877Ile) single nucleotide variant Inborn genetic diseases [RCV002877740] Chr3:38894738 [GRCh38]
Chr3:38936229 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2403+6T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003045662] Chr3:38896839 [GRCh38]
Chr3:38938330 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.188C>T (p.Pro63Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002746267] Chr3:38950175 [GRCh38]
Chr3:38991666 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.212G>A (p.Arg71His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002899224] Chr3:38950151 [GRCh38]
Chr3:38991642 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1300-8A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002601108] Chr3:38908130 [GRCh38]
Chr3:38949621 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3257T>C (p.Ile1086Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002628787] Chr3:38880086 [GRCh38]
Chr3:38921577 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5145T>C (p.Asn1715=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002628796] Chr3:38846925 [GRCh38]
Chr3:38888416 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1300-10C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002647176] Chr3:38908132 [GRCh38]
Chr3:38949623 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.387-2A>G single nucleotide variant Inborn genetic diseases [RCV002898403] Chr3:38945514 [GRCh38]
Chr3:38987005 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2459A>G (p.Asn820Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003030440] Chr3:38894909 [GRCh38]
Chr3:38936400 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5212G>T (p.Ala1738Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002900401] Chr3:38846858 [GRCh38]
Chr3:38888349 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4057-14C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003062785] Chr3:38850765 [GRCh38]
Chr3:38892256 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3303T>A (p.Phe1101Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002963397] Chr3:38880040 [GRCh38]
Chr3:38921531 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1842+8T>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002631678] Chr3:38903857 [GRCh38]
Chr3:38945348 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3730G>C (p.Gly1244Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002966287] Chr3:38871474 [GRCh38]
Chr3:38912965 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3874A>G (p.Ile1292Val) single nucleotide variant Inborn genetic diseases [RCV002808872] Chr3:38867398 [GRCh38]
Chr3:38908889 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4327+19C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002601634] Chr3:38850462 [GRCh38]
Chr3:38891953 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.501T>A (p.Thr167=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002877062] Chr3:38926919 [GRCh38]
Chr3:38968410 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2216C>G (p.Thr739Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002629003] Chr3:38897032 [GRCh38]
Chr3:38938523 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.975A>C (p.Gln325His) single nucleotide variant Inborn genetic diseases [RCV002674490] Chr3:38910192 [GRCh38]
Chr3:38951683 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1053C>T (p.Ala351=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003088059] Chr3:38910114 [GRCh38]
Chr3:38951605 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3312G>A (p.Glu1104=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002833759] Chr3:38880031 [GRCh38]
Chr3:38921522 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.764A>T (p.Asn255Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002717038] Chr3:38921204 [GRCh38]
Chr3:38962695 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.137A>G (p.Glu46Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003060775] Chr3:38950226 [GRCh38]
Chr3:38991717 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4323T>C (p.Ile1441=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002628815] Chr3:38850485 [GRCh38]
Chr3:38891976 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.713-14G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002629481] Chr3:38921269 [GRCh38]
Chr3:38962760 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3813+18C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002962823] Chr3:38870673 [GRCh38]
Chr3:38912164 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2807G>A (p.Arg936His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002598796] Chr3:38894561 [GRCh38]
Chr3:38936052 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4327A>G (p.Ser1443Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003031477] Chr3:38850481 [GRCh38]
Chr3:38891972 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4344C>T (p.Thr1448=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002938024] Chr3:38847726 [GRCh38]
Chr3:38889217 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3515T>C (p.Ile1172Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003066600] Chr3:38871689 [GRCh38]
Chr3:38913180 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.644C>T (p.Thr215Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002725983] Chr3:38925483 [GRCh38]
Chr3:38966974 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3295C>A (p.His1099Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002634730] Chr3:38880048 [GRCh38]
Chr3:38921539 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4056+15A>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002606343] Chr3:38863180 [GRCh38]
Chr3:38904671 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.387-12G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002942850] Chr3:38945524 [GRCh38]
Chr3:38987015 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3814-20A>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003067345] Chr3:38867478 [GRCh38]
Chr3:38908969 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.378A>G (p.Ser126=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002585861] Chr3:38946797 [GRCh38]
Chr3:38988288 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2183A>T (p.Asn728Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002585960] Chr3:38897065 [GRCh38]
Chr3:38938556 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3502G>A (p.Val1168Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002608537] Chr3:38871702 [GRCh38]
Chr3:38913193 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3340T>C (p.Phe1114Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003067149] Chr3:38880003 [GRCh38]
Chr3:38921494 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2965A>G (p.Ser989Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003070494]|Inborn genetic diseases [RCV003367987] Chr3:38885387 [GRCh38]
Chr3:38926878 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4029A>T (p.Lys1343Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002633699] Chr3:38863222 [GRCh38]
Chr3:38904713 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2463A>T (p.Gly821=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003051250] Chr3:38894905 [GRCh38]
Chr3:38936396 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4562A>G (p.Lys1521Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003073375] Chr3:38847508 [GRCh38]
Chr3:38888999 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1433A>G (p.Gln478Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003051533] Chr3:38907989 [GRCh38]
Chr3:38949480 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1027G>C (p.Asp343His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003072271] Chr3:38910140 [GRCh38]
Chr3:38951631 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2844G>A (p.Glu948=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002612343] Chr3:38886230 [GRCh38]
Chr3:38927721 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1985A>G (p.Gln662Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV002612752] Chr3:38899931 [GRCh38]
Chr3:38941422 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5105G>A (p.Ser1702Asn) single nucleotide variant Inborn genetic diseases [RCV003194714] Chr3:38846965 [GRCh38]
Chr3:38888456 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5022G>A (p.Met1674Ile) single nucleotide variant Inborn genetic diseases [RCV003197005] Chr3:38847048 [GRCh38]
Chr3:38888539 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3178A>G (p.Ser1060Gly) single nucleotide variant Inborn genetic diseases [RCV003281778] Chr3:38883274 [GRCh38]
Chr3:38924765 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4433G>C (p.Arg1478Pro) single nucleotide variant not provided [RCV003142752] Chr3:38847637 [GRCh38]
Chr3:38889128 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2702C>A (p.Thr901Asn) single nucleotide variant not provided [RCV003142753] Chr3:38894666 [GRCh38]
Chr3:38936157 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.193C>T (p.Leu65Phe) single nucleotide variant not provided [RCV003142754] Chr3:38950170 [GRCh38]
Chr3:38991661 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2237T>G (p.Leu746Ter) single nucleotide variant not provided [RCV003142755] Chr3:38897011 [GRCh38]
Chr3:38938502 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2389A>G (p.Ile797Val) single nucleotide variant Inborn genetic diseases [RCV003219527] Chr3:38896859 [GRCh38]
Chr3:38938350 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.664C>A (p.Arg222Ser) single nucleotide variant Familial episodic pain syndrome with predominantly lower limb involvement [RCV003322677] Chr3:38925463 [GRCh38]
Chr3:38966954 [GRCh37]
Chr3:3p22.2		 pathogenic
NM_001349253.2(SCN11A):c.5299C>T (p.His1767Tyr) single nucleotide variant Inborn genetic diseases [RCV003309047] Chr3:38846771 [GRCh38]
Chr3:38888262 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.521C>T (p.Ala174Val) single nucleotide variant Inborn genetic diseases [RCV003266143] Chr3:38926899 [GRCh38]
Chr3:38968390 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5162A>G (p.Tyr1721Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003777403]|Inborn genetic diseases [RCV003358164]|not provided [RCV003332850] Chr3:38846908 [GRCh38]
Chr3:38888399 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2783T>G (p.Phe928Cys) single nucleotide variant Inborn genetic diseases [RCV003378440] Chr3:38894585 [GRCh38]
Chr3:38936076 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4363A>T (p.Ile1455Phe) single nucleotide variant SCN11A-related condition [RCV003393205] Chr3:38847707 [GRCh38]
Chr3:38889198 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5144_5146delinsTAGTTGTATGAACTCTATGAA (p.Asn1715_Pro1716delinsIleValValTer) indel Inborn genetic diseases [RCV003362613] Chr3:38846924..38846926 [GRCh38]
Chr3:38888415..38888417 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3053G>A (p.Cys1018Tyr) single nucleotide variant Inborn genetic diseases [RCV003374571] Chr3:38885299 [GRCh38]
Chr3:38926790 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3956G>A (p.Gly1319Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003782177] Chr3:38863295 [GRCh38]
Chr3:38904786 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.810A>G (p.Val270=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003791652] Chr3:38921158 [GRCh38]
Chr3:38962649 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1937G>A (p.Ser646Asn) single nucleotide variant not provided [RCV003481697] Chr3:38899979 [GRCh38]
Chr3:38941470 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5201A>G (p.Glu1734Gly) single nucleotide variant not specified [RCV003479600] Chr3:38846869 [GRCh38]
Chr3:38888360 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5094T>C (p.Asp1698=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003791037] Chr3:38846976 [GRCh38]
Chr3:38888467 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2203C>T (p.Leu735Phe) single nucleotide variant not specified [RCV003404858] Chr3:38897045 [GRCh38]
Chr3:38938536 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1442G>C (p.Gly481Ala) single nucleotide variant not specified [RCV003405080] Chr3:38907980 [GRCh38]
Chr3:38949471 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2452G>T (p.Glu818Ter) single nucleotide variant not provided [RCV003437767] Chr3:38894916 [GRCh38]
Chr3:38936407 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2462G>A (p.Gly821Glu) single nucleotide variant SCN11A-related condition [RCV003392792] Chr3:38894906 [GRCh38]
Chr3:38936397 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.960-2A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003778425]|not provided [RCV003433520] Chr3:38910209 [GRCh38]
Chr3:38951700 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4464T>C (p.Phe1488=) single nucleotide variant not provided [RCV003437766] Chr3:38847606 [GRCh38]
Chr3:38889097 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1383T>C (p.Phe461=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003796954] Chr3:38908039 [GRCh38]
Chr3:38949530 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2732A>G (p.His911Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003783466] Chr3:38894636 [GRCh38]
Chr3:38936127 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3979_3980del (p.Glu1327fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV003804029] Chr3:38863271..38863272 [GRCh38]
Chr3:38904762..38904763 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2942C>T (p.Pro981Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003795051] Chr3:38886132 [GRCh38]
Chr3:38927623 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.105G>A (p.Lys35=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003796348] Chr3:38950258 [GRCh38]
Chr3:38991749 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1477C>G (p.Gln493Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003789836] Chr3:38905318 [GRCh38]
Chr3:38946809 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4280A>G (p.Asn1427Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003794876] Chr3:38850528 [GRCh38]
Chr3:38892019 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5282A>C (p.Asp1761Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003792526] Chr3:38846788 [GRCh38]
Chr3:38888279 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3158T>G (p.Val1053Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003792544] Chr3:38883294 [GRCh38]
Chr3:38924785 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3594C>T (p.Tyr1198=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003807715] Chr3:38871610 [GRCh38]
Chr3:38913101 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4327+15C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003787142] Chr3:38850466 [GRCh38]
Chr3:38891957 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3951+13G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003785132] Chr3:38867308 [GRCh38]
Chr3:38908799 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4298A>T (p.Asp1433Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003785185] Chr3:38850510 [GRCh38]
Chr3:38892001 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.602T>G (p.Ile201Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003797506] Chr3:38926818 [GRCh38]
Chr3:38968309 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4764T>C (p.Ile1588=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003797628] Chr3:38847306 [GRCh38]
Chr3:38888797 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1260G>T (p.Met420Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003791316] Chr3:38909036 [GRCh38]
Chr3:38950527 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3730G>A (p.Gly1244Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003783900] Chr3:38871474 [GRCh38]
Chr3:38912965 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.973C>A (p.Gln325Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003797515] Chr3:38910194 [GRCh38]
Chr3:38951685 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.895C>A (p.His299Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003797516] Chr3:38919999 [GRCh38]
Chr3:38961490 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1604-17C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003795635] Chr3:38904120 [GRCh38]
Chr3:38945611 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4301G>C (p.Cys1434Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003791643] Chr3:38850507 [GRCh38]
Chr3:38891998 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.37G>A (p.Glu13Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003794396] Chr3:38950326 [GRCh38]
Chr3:38991817 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4933G>C (p.Ala1645Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003807569] Chr3:38847137 [GRCh38]
Chr3:38888628 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.618-5_618-4insCCCTGTGCTTTGTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTCGATGTCTTGCGCTCGTGATCCGCCCGCCTCGGCCTCTCTAGGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCC insertion Hereditary sensory and autonomic neuropathy type 7 [RCV003807736] Chr3:38925513..38925514 [GRCh38]
Chr3:38967004..38967005 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3264A>C (p.Glu1088Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003793009] Chr3:38880079 [GRCh38]
Chr3:38921570 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2164C>G (p.Leu722Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003804473] Chr3:38897084 [GRCh38]
Chr3:38938575 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3064+4A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003796687] Chr3:38885284 [GRCh38]
Chr3:38926775 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3791A>G (p.Tyr1264Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003795845] Chr3:38870713 [GRCh38]
Chr3:38912204 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5062G>T (p.Ala1688Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003784334] Chr3:38847008 [GRCh38]
Chr3:38888499 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3760-12C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003786513] Chr3:38870756 [GRCh38]
Chr3:38912247 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.890A>G (p.Tyr297Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003783085] Chr3:38921078 [GRCh38]
Chr3:38962569 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.409G>A (p.Gly137Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003804954] Chr3:38945490 [GRCh38]
Chr3:38986981 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.268-18del deletion Hereditary sensory and autonomic neuropathy type 7 [RCV003804865] Chr3:38946925 [GRCh38]
Chr3:38988416 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3027G>T (p.Met1009Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003781309] Chr3:38885325 [GRCh38]
Chr3:38926816 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3422T>C (p.Met1141Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003793431] Chr3:38872266 [GRCh38]
Chr3:38913757 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.270A>G (p.Thr90=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003797236] Chr3:38946905 [GRCh38]
Chr3:38988396 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2840A>G (p.Tyr947Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003807674] Chr3:38886234 [GRCh38]
Chr3:38927725 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5371G>C (p.Asp1791His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003805256] Chr3:38846699 [GRCh38]
Chr3:38888190 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3064+11G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003786749] Chr3:38885277 [GRCh38]
Chr3:38926768 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1894G>T (p.Asp632Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003805287] Chr3:38900022 [GRCh38]
Chr3:38941513 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3267A>C (p.Leu1089Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003805909] Chr3:38880076 [GRCh38]
Chr3:38921567 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4057-6dup duplication Hereditary sensory and autonomic neuropathy type 7 [RCV003788353] Chr3:38850756..38850757 [GRCh38]
Chr3:38892247..38892248 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.712C>A (p.Arg238Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003790343] Chr3:38925415 [GRCh38]
Chr3:38966906 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1686G>C (p.Gln562His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003791242] Chr3:38904021 [GRCh38]
Chr3:38945512 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2187C>G (p.Ser729=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003805439] Chr3:38897061 [GRCh38]
Chr3:38938552 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3344G>T (p.Gly1115Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003793146] Chr3:38879999 [GRCh38]
Chr3:38921490 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2404-20G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003806028] Chr3:38894984 [GRCh38]
Chr3:38936475 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.54C>T (p.Pro18=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003805005] Chr3:38950309 [GRCh38]
Chr3:38991800 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1010A>G (p.Tyr337Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003787671] Chr3:38910157 [GRCh38]
Chr3:38951648 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1195G>T (p.Val399Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003795236] Chr3:38909101 [GRCh38]
Chr3:38950592 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.618-13C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003790502] Chr3:38925522 [GRCh38]
Chr3:38967013 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.781T>C (p.Phe261Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003791549] Chr3:38921187 [GRCh38]
Chr3:38962678 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3495+12A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003805508] Chr3:38872181 [GRCh38]
Chr3:38913672 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2795A>G (p.Asp932Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003788551] Chr3:38894573 [GRCh38]
Chr3:38936064 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3459G>T (p.Arg1153Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003783066] Chr3:38872229 [GRCh38]
Chr3:38913720 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3394-16C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003794524] Chr3:38872310 [GRCh38]
Chr3:38913801 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.5A>G (p.Asp2Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003796543] Chr3:38950358 [GRCh38]
Chr3:38991849 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2503G>T (p.Ala835Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003787841] Chr3:38894865 [GRCh38]
Chr3:38936356 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.979G>A (p.Glu327Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003780546] Chr3:38910188 [GRCh38]
Chr3:38951679 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1273C>T (p.Gln425Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003791730] Chr3:38909023 [GRCh38]
Chr3:38950514 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4198C>T (p.His1400Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003782291] Chr3:38850610 [GRCh38]
Chr3:38892101 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4885G>C (p.Val1629Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003782371] Chr3:38847185 [GRCh38]
Chr3:38888676 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.731G>A (p.Gly244Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003784385] Chr3:38921237 [GRCh38]
Chr3:38962728 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5326G>C (p.Gly1776Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003804967] Chr3:38846744 [GRCh38]
Chr3:38888235 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.995A>G (p.Lys332Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003789480] Chr3:38910172 [GRCh38]
Chr3:38951663 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4516C>T (p.Leu1506=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003788795] Chr3:38847554 [GRCh38]
Chr3:38889045 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4171C>T (p.Pro1391Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003783241] Chr3:38850637 [GRCh38]
Chr3:38892128 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2493A>G (p.Lys831=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003784547] Chr3:38894875 [GRCh38]
Chr3:38936366 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2479G>T (p.Ala827Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003787762] Chr3:38894889 [GRCh38]
Chr3:38936380 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.674G>A (p.Arg225His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003795969] Chr3:38925453 [GRCh38]
Chr3:38966944 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3426A>G (p.Glu1142=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003796350] Chr3:38872262 [GRCh38]
Chr3:38913753 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4442G>A (p.Arg1481Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003786021] Chr3:38847628 [GRCh38]
Chr3:38889119 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.827T>G (p.Met276Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003807211] Chr3:38921141 [GRCh38]
Chr3:38962632 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3279T>A (p.Thr1093=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003780055] Chr3:38880064 [GRCh38]
Chr3:38921555 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3496-3A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003805296] Chr3:38871711 [GRCh38]
Chr3:38913202 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.49C>T (p.Arg17Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003795549] Chr3:38950314 [GRCh38]
Chr3:38991805 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2981G>T (p.Cys994Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003780095] Chr3:38885371 [GRCh38]
Chr3:38926862 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2404-8A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003780687] Chr3:38894972 [GRCh38]
Chr3:38936463 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.712+13C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003790626] Chr3:38925402 [GRCh38]
Chr3:38966893 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.119C>T (p.Ser40Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003785248] Chr3:38950244 [GRCh38]
Chr3:38991735 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2747T>C (p.Leu916Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003795595] Chr3:38894621 [GRCh38]
Chr3:38936112 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.442A>G (p.Thr148Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003780757] Chr3:38945457 [GRCh38]
Chr3:38986948 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4333A>G (p.Met1445Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003797081] Chr3:38847737 [GRCh38]
Chr3:38889228 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4686A>G (p.Arg1562=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003787273] Chr3:38847384 [GRCh38]
Chr3:38888875 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3999T>C (p.Tyr1333=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003783915] Chr3:38863252 [GRCh38]
Chr3:38904743 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2710_2719del (p.Pro904fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV003793335] Chr3:38894649..38894658 [GRCh38]
Chr3:38936140..38936149 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2956del (p.Asp986fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV003783094] Chr3:38885396 [GRCh38]
Chr3:38926887 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4589A>G (p.Asp1530Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003788998] Chr3:38847481 [GRCh38]
Chr3:38888972 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2835+3A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003794804] Chr3:38894530 [GRCh38]
Chr3:38936021 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4842T>A (p.Ser1614Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003788233] Chr3:38847228 [GRCh38]
Chr3:38888719 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.55T>A (p.Phe19Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003805063] Chr3:38950308 [GRCh38]
Chr3:38991799 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3064+17C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003796171] Chr3:38885271 [GRCh38]
Chr3:38926762 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.447G>A (p.Gly149=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003792001] Chr3:38945452 [GRCh38]
Chr3:38986943 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2595G>A (p.Gln865=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003793575] Chr3:38894773 [GRCh38]
Chr3:38936264 [GRCh37]
Chr3:3p22.2		 benign
NM_001349253.2(SCN11A):c.892+15T>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003785922] Chr3:38921061 [GRCh38]
Chr3:38962552 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.893-18G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003807138] Chr3:38920019 [GRCh38]
Chr3:38961510 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4328-12C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003785114] Chr3:38847754 [GRCh38]
Chr3:38889245 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1919G>A (p.Gly640Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003781128] Chr3:38899997 [GRCh38]
Chr3:38941488 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5319_5320del (p.Cys1774fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV003806506] Chr3:38846750..38846751 [GRCh38]
Chr3:38888241..38888242 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1683C>T (p.Pro561=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003788466] Chr3:38904024 [GRCh38]
Chr3:38945515 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4327+20A>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003790506] Chr3:38850461 [GRCh38]
Chr3:38891952 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3488G>A (p.Gly1163Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003796716] Chr3:38872200 [GRCh38]
Chr3:38913691 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2933T>C (p.Ile978Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003790894] Chr3:38886141 [GRCh38]
Chr3:38927632 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3759+12C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003794220] Chr3:38871433 [GRCh38]
Chr3:38912924 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3813G>A (p.Glu1271=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003781772] Chr3:38870691 [GRCh38]
Chr3:38912182 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.189C>T (p.Pro63=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003787107] Chr3:38950174 [GRCh38]
Chr3:38991665 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3704A>T (p.Asn1235Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003782886] Chr3:38871500 [GRCh38]
Chr3:38912991 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4276A>G (p.Thr1426Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003783952] Chr3:38850532 [GRCh38]
Chr3:38892023 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2950-1G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003786857] Chr3:38885403 [GRCh38]
Chr3:38926894 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.11G>C (p.Arg4Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003789800] Chr3:38950352 [GRCh38]
Chr3:38991843 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3956del (p.Gly1319fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV003788403] Chr3:38863295 [GRCh38]
Chr3:38904786 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3567G>T (p.Trp1189Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003793725] Chr3:38871637 [GRCh38]
Chr3:38913128 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.780C>T (p.Thr260=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003788465] Chr3:38921188 [GRCh38]
Chr3:38962679 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.607A>G (p.Ile203Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003788468] Chr3:38926813 [GRCh38]
Chr3:38968304 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.892+13C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003783462] Chr3:38921063 [GRCh38]
Chr3:38962554 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3219+19G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003791343] Chr3:38883214 [GRCh38]
Chr3:38924705 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.547T>G (p.Phe183Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003791344] Chr3:38926873 [GRCh38]
Chr3:38968364 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1474-20C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003792234] Chr3:38905341 [GRCh38]
Chr3:38946832 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2920C>T (p.Pro974Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003782119] Chr3:38886154 [GRCh38]
Chr3:38927645 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4359G>A (p.Glu1453=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003792268] Chr3:38847711 [GRCh38]
Chr3:38889202 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4016del (p.Lys1338_Leu1339insTer) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV003782189] Chr3:38863235 [GRCh38]
Chr3:38904726 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1603+16C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003792929] Chr3:38905176 [GRCh38]
Chr3:38946667 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.557A>G (p.Asp186Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003792355] Chr3:38926863 [GRCh38]
Chr3:38968354 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2949+2_2949+14dup duplication Hereditary sensory and autonomic neuropathy type 7 [RCV003787874] Chr3:38886110..38886111 [GRCh38]
Chr3:38927601..38927602 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3064+20C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003788014] Chr3:38885268 [GRCh38]
Chr3:38926759 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3394G>T (p.Val1132Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003787694] Chr3:38872294 [GRCh38]
Chr3:38913785 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3709A>G (p.Lys1237Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003783119] Chr3:38871495 [GRCh38]
Chr3:38912986 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3688A>G (p.Asn1230Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003788632] Chr3:38871516 [GRCh38]
Chr3:38913007 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2947A>C (p.Lys983Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003780146] Chr3:38886127 [GRCh38]
Chr3:38927618 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3813+19A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003790306] Chr3:38870672 [GRCh38]
Chr3:38912163 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4798A>T (p.Ile1600Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003786652] Chr3:38847272 [GRCh38]
Chr3:38888763 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3015G>T (p.Trp1005Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003781391] Chr3:38885337 [GRCh38]
Chr3:38926828 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5020A>G (p.Met1674Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003792632] Chr3:38847050 [GRCh38]
Chr3:38888541 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5320T>C (p.Cys1774Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003790740] Chr3:38846750 [GRCh38]
Chr3:38888241 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1786A>T (p.Met596Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003783259] Chr3:38903921 [GRCh38]
Chr3:38945412 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.893-13T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003804231] Chr3:38920014 [GRCh38]
Chr3:38961505 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3348del (p.Lys1116fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV003813283] Chr3:38879995 [GRCh38]
Chr3:38921486 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3393+11C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003800970] Chr3:38879939 [GRCh38]
Chr3:38921430 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.1060C>T (p.Arg354Trp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003798975] Chr3:38910107 [GRCh38]
Chr3:38951598 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3849C>T (p.Leu1283=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003800015] Chr3:38867423 [GRCh38]
Chr3:38908914 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4327+15C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003809219] Chr3:38850466 [GRCh38]
Chr3:38891957 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2977G>T (p.Glu993Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003809270] Chr3:38885375 [GRCh38]
Chr3:38926866 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4586A>G (p.Asp1529Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003799200] Chr3:38847484 [GRCh38]
Chr3:38888975 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4953T>A (p.Asp1651Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003798035] Chr3:38847117 [GRCh38]
Chr3:38888608 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3252del (p.Ile1086fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV003799250] Chr3:38880091 [GRCh38]
Chr3:38921582 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4060A>T (p.Lys1354Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003810620] Chr3:38850748 [GRCh38]
Chr3:38892239 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4908A>G (p.Glu1636=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003800444] Chr3:38847162 [GRCh38]
Chr3:38888653 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2314A>T (p.Asn772Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003799550] Chr3:38896934 [GRCh38]
Chr3:38938425 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3781G>A (p.Asp1261Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003799587] Chr3:38870723 [GRCh38]
Chr3:38912214 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4909G>T (p.Ala1637Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003809725] Chr3:38847161 [GRCh38]
Chr3:38888652 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3780G>A (p.Met1260Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003800600] Chr3:38870724 [GRCh38]
Chr3:38912215 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4528A>G (p.Ile1510Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003800677] Chr3:38847542 [GRCh38]
Chr3:38889033 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4671C>T (p.Leu1557=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003799045] Chr3:38847399 [GRCh38]
Chr3:38888890 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2836-7G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003800780] Chr3:38886245 [GRCh38]
Chr3:38927736 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.798C>T (p.Ile266=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003798687] Chr3:38921170 [GRCh38]
Chr3:38962661 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2214G>A (p.Pro738=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003809810] Chr3:38897034 [GRCh38]
Chr3:38938525 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2357T>C (p.Leu786Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003813578] Chr3:38896891 [GRCh38]
Chr3:38938382 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.859del (p.Asp287fs) deletion Hereditary sensory and autonomic neuropathy type 7 [RCV003809076] Chr3:38921109 [GRCh38]
Chr3:38962600 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1265A>G (p.Gln422Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003809509] Chr3:38909031 [GRCh38]
Chr3:38950522 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.629A>G (p.Tyr210Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003817966] Chr3:38925498 [GRCh38]
Chr3:38966989 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2505A>C (p.Ala835=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003813693] Chr3:38894863 [GRCh38]
Chr3:38936354 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2062A>C (p.Asn688His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003798887] Chr3:38897186 [GRCh38]
Chr3:38938677 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1343T>G (p.Leu448Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003817952] Chr3:38908079 [GRCh38]
Chr3:38949570 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.843G>A (p.Leu281=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003800594] Chr3:38921125 [GRCh38]
Chr3:38962616 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2316T>C (p.Asn772=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003799549] Chr3:38896932 [GRCh38]
Chr3:38938423 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4947T>C (p.Phe1649=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003799013] Chr3:38847123 [GRCh38]
Chr3:38888614 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2434A>T (p.Asn812Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003801174] Chr3:38894934 [GRCh38]
Chr3:38936425 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1299+9A>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003799848] Chr3:38908988 [GRCh38]
Chr3:38950479 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2312_2313insTGG (p.Glu771delinsAspGly) insertion Hereditary sensory and autonomic neuropathy type 7 [RCV003799551] Chr3:38896935..38896936 [GRCh38]
Chr3:38938426..38938427 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.2836-18C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003809203] Chr3:38886256 [GRCh38]
Chr3:38927747 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3767T>G (p.Phe1256Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003800051] Chr3:38870737 [GRCh38]
Chr3:38912228 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4801G>C (p.Ala1601Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003800776] Chr3:38847269 [GRCh38]
Chr3:38888760 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.192G>C (p.Lys64Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003809001] Chr3:38950171 [GRCh38]
Chr3:38991662 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4789A>C (p.Asn1597His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003809711] Chr3:38847281 [GRCh38]
Chr3:38888772 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4658G>A (p.Trp1553Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003813427] Chr3:38847412 [GRCh38]
Chr3:38888903 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5366A>G (p.His1789Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003808135] Chr3:38846704 [GRCh38]
Chr3:38888195 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.617+8T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003808164] Chr3:38926795 [GRCh38]
Chr3:38968286 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3086G>A (p.Cys1029Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003813534] Chr3:38883366 [GRCh38]
Chr3:38924857 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5309T>C (p.Leu1770Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003802754] Chr3:38846761 [GRCh38]
Chr3:38888252 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.1536G>T (p.Glu512Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003803448] Chr3:38905259 [GRCh38]
Chr3:38946750 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.5341T>A (p.Phe1781Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003818155] Chr3:38846729 [GRCh38]
Chr3:38888220 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.3748C>T (p.Leu1250=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003802694] Chr3:38871456 [GRCh38]
Chr3:38912947 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3813+10T>C single nucleotide variant SCN11A-related condition [RCV003892255] Chr3:38870681 [GRCh38]
Chr3:38912172 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3495+18A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003803975] Chr3:38872175 [GRCh38]
Chr3:38913666 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.2973A>C (p.Leu991=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003802759] Chr3:38885379 [GRCh38]
Chr3:38926870 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4278C>T (p.Thr1426=) single nucleotide variant not specified [RCV003988547] Chr3:38850530 [GRCh38]
Chr3:38892021 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.4779C>T (p.Leu1593=) single nucleotide variant SCN11A-related condition [RCV003959502] Chr3:38847291 [GRCh38]
Chr3:38888782 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3540T>C (p.Asn1180=) single nucleotide variant SCN11A-related condition [RCV003966912] Chr3:38871664 [GRCh38]
Chr3:38913155 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001349253.2(SCN11A):c.3497T>C (p.Val1166Ala) single nucleotide variant not provided [RCV003887691] Chr3:38871707 [GRCh38]
Chr3:38913198 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.64G>T (p.Asp22Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 7 [RCV003988180] Chr3:38950299 [GRCh38]
Chr3:38991790 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001349253.2(SCN11A):c.4974T>A (p.Arg1658=) single nucleotide variant SCN11A-related condition [RCV003951614] Chr3:38847096 [GRCh38]
Chr3:38888587 [GRCh37]
Chr3:3p22.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1907
Count of miRNA genes:695
Interacting mature miRNAs:783
Transcripts:ENST00000302328, ENST00000444237, ENST00000450244, ENST00000456224
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
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
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Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 17 1 2 2
Low 1007 86 349 22 398 22 1190 324 1316 91 526 245 2 733 585 2
Below cutoff 1357 2618 1313 544 1173 387 3101 1804 2383 293 884 1322 167 471 2160 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC116038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC123903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF109737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF126739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF150882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF188679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF399967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF399968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ417790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY686224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS275932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000302328   ⟹   ENSP00000307599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl338,845,764 - 39,051,944 (-)Ensembl
RefSeq Acc Id: ENST00000444237   ⟹   ENSP00000408028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl338,849,278 - 38,950,561 (-)Ensembl
RefSeq Acc Id: ENST00000456224   ⟹   ENSP00000416757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl338,846,694 - 38,950,362 (-)Ensembl
RefSeq Acc Id: ENST00000665106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl338,945,108 - 39,051,941 (-)Ensembl
RefSeq Acc Id: ENST00000668754   ⟹   ENSP00000499569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl338,845,769 - 39,051,941 (-)Ensembl
RefSeq Acc Id: ENST00000674755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,032,048 - 39,052,157 (-)Ensembl
RefSeq Acc Id: ENST00000674979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,026,128 - 39,032,479 (-)Ensembl
RefSeq Acc Id: ENST00000675223   ⟹   ENSP00000502481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl338,846,694 - 38,950,362 (-)Ensembl
RefSeq Acc Id: ENST00000675269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl338,988,698 - 39,051,984 (-)Ensembl
RefSeq Acc Id: ENST00000675672   ⟹   ENSP00000502446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl338,846,694 - 38,950,362 (-)Ensembl
RefSeq Acc Id: ENST00000675892   ⟹   ENSP00000502318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl338,846,694 - 38,950,362 (-)Ensembl
RefSeq Acc Id: ENST00000676045   ⟹   ENSP00000501685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl338,846,694 - 38,950,362 (-)Ensembl
RefSeq Acc Id: ENST00000676176   ⟹   ENSP00000501891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl338,846,694 - 38,950,362 (-)Ensembl
RefSeq Acc Id: ENST00000676333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl338,976,893 - 39,051,963 (-)Ensembl
RefSeq Acc Id: NM_001349253   ⟹   NP_001336182
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38338,845,764 - 39,051,944 (-)NCBI
T2T-CHM13v2.0338,857,981 - 39,064,106 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014139   ⟹   NP_054858
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38338,845,764 - 38,950,561 (-)NCBI
GRCh37338,887,260 - 38,995,136 (-)NCBI
Build 36338,862,264 - 38,967,056 (-)NCBI Archive
Celera338,826,267 - 38,932,035 (-)RGD
HuRef338,929,417 - 39,037,050 (-)NCBI
CHM1_1338,838,871 - 38,943,183 (-)NCBI
T2T-CHM13v2.0338,857,981 - 38,962,719 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164473
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38338,976,893 - 39,051,944 (-)NCBI
T2T-CHM13v2.0338,989,055 - 39,064,106 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533321   ⟹   XP_011531623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38338,845,764 - 38,926,925 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005650   ⟹   XP_016861139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38338,845,764 - 38,960,404 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005651   ⟹   XP_016861140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38338,845,764 - 38,950,561 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005653   ⟹   XP_016861142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38338,845,764 - 38,905,741 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047447378   ⟹   XP_047303334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38338,845,764 - 39,051,944 (-)NCBI
RefSeq Acc Id: XM_054345105   ⟹   XP_054201080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0338,857,981 - 39,064,106 (-)NCBI
RefSeq Acc Id: XM_054345106   ⟹   XP_054201081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0338,857,981 - 38,972,524 (-)NCBI
RefSeq Acc Id: XM_054345107   ⟹   XP_054201082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0338,857,981 - 38,962,719 (-)NCBI
RefSeq Acc Id: XM_054345108   ⟹   XP_054201083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0338,857,981 - 38,939,090 (-)NCBI
RefSeq Acc Id: XM_054345109   ⟹   XP_054201084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0338,857,981 - 38,917,928 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001336182 (Get FASTA)   NCBI Sequence Viewer  
  NP_054858 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531623 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861139 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861140 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861142 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303334 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201080 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201081 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201082 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201083 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201084 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD53407 (Get FASTA)   NCBI Sequence Viewer  
  AAF17480 (Get FASTA)   NCBI Sequence Viewer  
  AAF24976 (Get FASTA)   NCBI Sequence Viewer  
  AAF24980 (Get FASTA)   NCBI Sequence Viewer  
  AAO85712 (Get FASTA)   NCBI Sequence Viewer  
  AAT95434 (Get FASTA)   NCBI Sequence Viewer  
  CAD10507 (Get FASTA)   NCBI Sequence Viewer  
  CAJ84379 (Get FASTA)   NCBI Sequence Viewer  
  EAW64544 (Get FASTA)   NCBI Sequence Viewer  
  EAW64545 (Get FASTA)   NCBI Sequence Viewer  
  EAW64546 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000307599
  ENSP00000307599.3
  ENSP00000408028.2
  ENSP00000416757
  ENSP00000416757.3
  ENSP00000499569.1
  ENSP00000501685.1
  ENSP00000501891.1
  ENSP00000502318.1
  ENSP00000502446.1
  ENSP00000502481.1
GenBank Protein Q9UI33 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_054858   ⟸   NM_014139
- UniProtKB: Q9UHE0 (UniProtKB/Swiss-Prot),   Q8NDX3 (UniProtKB/Swiss-Prot),   Q68K15 (UniProtKB/Swiss-Prot),   C9JR31 (UniProtKB/Swiss-Prot),   C9JD48 (UniProtKB/Swiss-Prot),   A6NN05 (UniProtKB/Swiss-Prot),   Q9UHM0 (UniProtKB/Swiss-Prot),   Q9UI33 (UniProtKB/Swiss-Prot),   A0A6Q8PGN4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531623   ⟸   XM_011533321
- Peptide Label: isoform X4
- UniProtKB: A0A6Q8PGN4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861139   ⟸   XM_017005650
- Peptide Label: isoform X2
- UniProtKB: Q9UHE0 (UniProtKB/Swiss-Prot),   Q8NDX3 (UniProtKB/Swiss-Prot),   Q68K15 (UniProtKB/Swiss-Prot),   C9JR31 (UniProtKB/Swiss-Prot),   C9JD48 (UniProtKB/Swiss-Prot),   A6NN05 (UniProtKB/Swiss-Prot),   Q9UHM0 (UniProtKB/Swiss-Prot),   Q9UI33 (UniProtKB/Swiss-Prot),   A0A6Q8PGN4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861140   ⟸   XM_017005651
- Peptide Label: isoform X3
- UniProtKB: A0A6Q8PGN4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861142   ⟸   XM_017005653
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001336182   ⟸   NM_001349253
- UniProtKB: Q9UI33 (UniProtKB/Swiss-Prot),   Q9UHE0 (UniProtKB/Swiss-Prot),   Q8NDX3 (UniProtKB/Swiss-Prot),   Q68K15 (UniProtKB/Swiss-Prot),   C9JR31 (UniProtKB/Swiss-Prot),   C9JD48 (UniProtKB/Swiss-Prot),   A6NN05 (UniProtKB/Swiss-Prot),   Q9UHM0 (UniProtKB/Swiss-Prot),   A0A6Q8PGN4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000416757   ⟸   ENST00000456224
RefSeq Acc Id: ENSP00000499569   ⟸   ENST00000668754
RefSeq Acc Id: ENSP00000408028   ⟸   ENST00000444237
RefSeq Acc Id: ENSP00000307599   ⟸   ENST00000302328
RefSeq Acc Id: ENSP00000502446   ⟸   ENST00000675672
RefSeq Acc Id: ENSP00000502318   ⟸   ENST00000675892
RefSeq Acc Id: ENSP00000502481   ⟸   ENST00000675223
RefSeq Acc Id: ENSP00000501891   ⟸   ENST00000676176
RefSeq Acc Id: ENSP00000501685   ⟸   ENST00000676045
RefSeq Acc Id: XP_047303334   ⟸   XM_047447378
- Peptide Label: isoform X1
- UniProtKB: A0A6Q8PGN4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201080   ⟸   XM_054345105
- Peptide Label: isoform X1
- UniProtKB: A0A6Q8PGN4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201081   ⟸   XM_054345106
- Peptide Label: isoform X2
- UniProtKB: Q9UI33 (UniProtKB/Swiss-Prot),   Q9UHE0 (UniProtKB/Swiss-Prot),   Q8NDX3 (UniProtKB/Swiss-Prot),   Q68K15 (UniProtKB/Swiss-Prot),   C9JR31 (UniProtKB/Swiss-Prot),   C9JD48 (UniProtKB/Swiss-Prot),   A6NN05 (UniProtKB/Swiss-Prot),   Q9UHM0 (UniProtKB/Swiss-Prot),   A0A6Q8PGN4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201082   ⟸   XM_054345107
- Peptide Label: isoform X3
- UniProtKB: A0A6Q8PGN4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201083   ⟸   XM_054345108
- Peptide Label: isoform X4
- UniProtKB: A0A6Q8PGN4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201084   ⟸   XM_054345109
- Peptide Label: isoform X5
Protein Domains
Ion transport   Sodium ion transport-associated

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UI33-F1-model_v2 AlphaFold Q9UI33 1-1791 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10583 AgrOrtholog
COSMIC SCN11A COSMIC
Ensembl Genes ENSG00000168356 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000302328 ENTREZGENE
  ENST00000302328.9 UniProtKB/Swiss-Prot
  ENST00000444237.2 UniProtKB/Swiss-Prot
  ENST00000456224 ENTREZGENE
  ENST00000456224.7 UniProtKB/Swiss-Prot
  ENST00000668754.1 UniProtKB/Swiss-Prot
  ENST00000675223.1 UniProtKB/TrEMBL
  ENST00000675672.1 UniProtKB/TrEMBL
  ENST00000675892.1 UniProtKB/TrEMBL
  ENST00000676045.1 UniProtKB/TrEMBL
  ENST00000676176.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  iswi atpase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168356 GTEx
HGNC ID HGNC:10583 ENTREZGENE
Human Proteome Map SCN11A Human Proteome Map
InterPro Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na_channel_asu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na_chnl_inactivation_gate UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na_trans_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VGCC_Ca_Na UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11280 UniProtKB/Swiss-Prot
NCBI Gene 11280 ENTREZGENE
OMIM 604385 OMIM
PANTHER PTHR10037 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10037:SF210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na_trans_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35001 PharmGKB
PRINTS NACHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6Q8PF78_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFM8_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGN4 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PGY3_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGY6_HUMAN UniProtKB/TrEMBL
  A6NN05 ENTREZGENE
  C9JD48 ENTREZGENE
  C9JR31 ENTREZGENE
  Q68K15 ENTREZGENE
  Q86XP4_HUMAN UniProtKB/TrEMBL
  Q8NDX3 ENTREZGENE
  Q9UHE0 ENTREZGENE
  Q9UHM0 ENTREZGENE
  Q9UI33 ENTREZGENE
  Q9UKU5_HUMAN UniProtKB/TrEMBL
  SCNBA_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NN05 UniProtKB/Swiss-Prot
  C9JD48 UniProtKB/Swiss-Prot
  C9JR31 UniProtKB/Swiss-Prot
  Q68K15 UniProtKB/Swiss-Prot
  Q8NDX3 UniProtKB/Swiss-Prot
  Q9UHE0 UniProtKB/Swiss-Prot
  Q9UHM0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SCN11A  sodium voltage-gated channel alpha subunit 11  SCN12A  sodium channel, voltage-gated, type XII, alpha  Data merged from RGD:1351823 737654 PROVISIONAL
2016-02-10 SCN11A  sodium voltage-gated channel alpha subunit 11  SCN11A  sodium channel, voltage gated, type XI alpha subunit  Symbol and/or name change 5135510 APPROVED
2015-01-20 SCN11A  sodium channel, voltage gated, type XI alpha subunit  SCN11A  sodium channel, voltage-gated, type XI, alpha subunit  Symbol and/or name change 5135510 APPROVED