PRDM12 (PR/SET domain 12) - Rat Genome Database

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Gene: PRDM12 (PR/SET domain 12) Homo sapiens
Analyze
Symbol: PRDM12
Name: PR/SET domain 12
RGD ID: 1351660
HGNC Page HGNC:13997
Description: Enables histone chaperone activity and histone methyltransferase binding activity. Acts upstream of or within detection of temperature stimulus involved in sensory perception of pain; neuron projection development; and protein methylation. Located in nucleoplasm. Implicated in hereditary sensory and autonomic neuropathy type 8.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HSAN8; PFM9; PR domain 12; PR domain containing 12; PR domain zinc finger protein 12; PR domain-containing protein 12; PR-domain containing protein 12; PR-domain zinc finger protein 12
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389130,664,594 - 130,682,983 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9130,664,594 - 130,682,986 (+)EnsemblGRCh38hg38GRCh38
GRCh379133,539,981 - 133,558,370 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369132,529,802 - 132,548,205 (+)NCBINCBI36Build 36hg18NCBI36
Build 349130,569,534 - 130,587,938NCBI
Celera9104,078,514 - 104,096,917 (+)NCBICelera
Cytogenetic Map9q34.12NCBI
HuRef9103,027,137 - 103,045,252 (+)NCBIHuRef
CHM1_19133,688,996 - 133,707,405 (+)NCBICHM1_1
T2T-CHM13v2.09142,869,556 - 142,887,937 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10668202   PMID:11274145   PMID:12835719   PMID:14523459   PMID:14675547   PMID:19274049   PMID:21873635   PMID:22028065   PMID:22669819   PMID:24315451   PMID:25891934   PMID:26005867  
PMID:26220135   PMID:26975306   PMID:27634302   PMID:28050684   PMID:29419974   PMID:29949203   PMID:33961781   PMID:34769459   PMID:36111846  


Genomics

Comparative Map Data
PRDM12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389130,664,594 - 130,682,983 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9130,664,594 - 130,682,986 (+)EnsemblGRCh38hg38GRCh38
GRCh379133,539,981 - 133,558,370 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369132,529,802 - 132,548,205 (+)NCBINCBI36Build 36hg18NCBI36
Build 349130,569,534 - 130,587,938NCBI
Celera9104,078,514 - 104,096,917 (+)NCBICelera
Cytogenetic Map9q34.12NCBI
HuRef9103,027,137 - 103,045,252 (+)NCBIHuRef
CHM1_19133,688,996 - 133,707,405 (+)NCBICHM1_1
T2T-CHM13v2.09142,869,556 - 142,887,937 (+)NCBIT2T-CHM13v2.0
Prdm12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39231,526,767 - 31,545,798 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl231,530,049 - 31,545,807 (+)EnsemblGRCm39 Ensembl
GRCm38231,635,026 - 31,655,795 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl231,640,037 - 31,655,795 (+)EnsemblGRCm38mm10GRCm38
MGSCv37231,495,557 - 31,511,315 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36231,461,730 - 31,476,506 (+)NCBIMGSCv36mm8
Celera231,340,637 - 31,356,608 (+)NCBICelera
Cytogenetic Map2BNCBI
cM Map221.85NCBI
Prdm12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8335,322,962 - 35,341,878 (+)NCBIGRCr8
mRatBN7.2314,928,651 - 14,943,341 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl314,928,628 - 14,943,331 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0310,181,104 - 10,199,185 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl310,181,924 - 10,196,626 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0315,540,492 - 15,556,510 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4310,752,644 - 10,767,390 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera39,677,191 - 9,695,307 (+)NCBICelera
Cytogenetic Map3p12NCBI
Prdm12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955513612,566 - 627,323 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955513612,566 - 627,848 (+)NCBIChiLan1.0ChiLan1.0
PRDM12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2118,667,002 - 8,687,551 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan198,669,344 - 8,689,893 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09101,786,052 - 101,803,287 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19130,436,273 - 130,463,441 (+)NCBIpanpan1.1PanPan1.1panPan2
PRDM12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1953,284,455 - 53,300,951 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl953,284,455 - 53,299,312 (-)NCBICanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl953,284,455 - 53,299,312 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha952,483,776 - 52,498,082 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0954,184,262 - 54,198,358 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl954,183,297 - 54,198,358 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1952,961,799 - 52,975,893 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0953,282,589 - 53,296,693 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0953,375,614 - 53,389,929 (-)NCBIUU_Cfam_GSD_1.0
Prdm12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947197,884,498 - 197,901,547 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648717,656,311 - 17,670,477 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648717,656,311 - 17,670,074 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRDM12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1270,723,681 - 270,739,468 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11270,723,880 - 270,739,468 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21304,646,521 - 304,662,114 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRDM12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1127,460,614 - 7,477,453 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl127,462,142 - 7,477,403 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660797,986,033 - 8,003,810 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prdm12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247605,049,666 - 5,063,161 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247605,048,760 - 5,063,504 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRDM12
245 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021619.3(PRDM12):c.1041CGC[6] (p.Ala354_Ala359del) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV000525968]|not provided [RCV001574491] Chr9:130681606..130681623 [GRCh38]
Chr9:133556993..133557010 [GRCh37]
Chr9:9q34.12		 benign|likely benign
NM_021619.3(PRDM12):c.1041CGC[19] (p.Ala353_Ala359dup) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV000547823] Chr9:130681605..130681606 [GRCh38]
Chr9:133556992..133556993 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.995C>A (p.Ala332Glu) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000553040]|Inborn genetic diseases [RCV002384249]|not provided [RCV001591292] Chr9:130681560 [GRCh38]
Chr9:133556947 [GRCh37]
Chr9:9q34.12		 likely benign|uncertain significance
NM_021619.3(PRDM12):c.711T>G (p.Ala237=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000532669]|Inborn genetic diseases [RCV002367955] Chr9:130681276 [GRCh38]
Chr9:133556663 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.682+103G>A single nucleotide variant not provided [RCV001571223] Chr9:130678743 [GRCh38]
Chr9:133554130 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1041CGC[15] (p.Ala357_Ala359dup) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV000525340]|Inborn genetic diseases [RCV002526723]|not provided [RCV004691905] Chr9:130681605..130681606 [GRCh38]
Chr9:133556992..133556993 [GRCh37]
Chr9:9q34.12		 likely benign|uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1 copy number loss See cases [RCV000052935] Chr9:129949815..132342490 [GRCh38]
Chr9:132712094..135217877 [GRCh37]
Chr9:131751915..134207698 [NCBI36]
Chr9:9q34.11-34.13		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 copy number gain See cases [RCV000053779] Chr9:129068560..136495351 [GRCh38]
Chr9:131830839..139389803 [GRCh37]
Chr9:130870660..138509624 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3 copy number gain See cases [RCV000137775] Chr9:128839676..130912873 [GRCh38]
Chr9:131601955..133788260 [GRCh37]
Chr9:130641776..132778081 [NCBI36]
Chr9:9q34.11-34.12		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_021619.3(PRDM12):c.855G>A (p.Thr285=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000543004]|Inborn genetic diseases [RCV002448789]|not provided [RCV001536848] Chr9:130681420 [GRCh38]
Chr9:133556807 [GRCh37]
Chr9:9q34.12		 benign|likely benign
NM_021619.3(PRDM12):c.1041CGC[(15_?)] microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV000239565] Chr9:130681606..130681608 [GRCh38]
Chr9:133556993..133556995 [GRCh37]
Chr9:9q34.12		 pathogenic
NM_021619.3(PRDM12):c.305T>A (p.Ile102Asn) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000239476] Chr9:130666689 [GRCh38]
Chr9:133542076 [GRCh37]
Chr9:9q34.12		 pathogenic
NM_021619.3(PRDM12):c.866A>T (p.His289Leu) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000239481] Chr9:130681431 [GRCh38]
Chr9:133556818 [GRCh37]
Chr9:9q34.12		 pathogenic
NM_021619.3(PRDM12):c.91G>T (p.Asp31Tyr) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000239529] Chr9:130664744 [GRCh38]
Chr9:133540131 [GRCh37]
Chr9:9q34.12		 pathogenic
NM_021619.3(PRDM12):c.516G>C (p.Glu172Asp) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000239564] Chr9:130668259 [GRCh38]
Chr9:133543646 [GRCh37]
Chr9:9q34.12		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_021619.3(PRDM12):c.1041CGC[13] (p.Ala359dup) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV000528965]|PRDM12-related disorder [RCV003962608]|not provided [RCV001637086]|not specified [RCV001701087] Chr9:130681605..130681606 [GRCh38]
Chr9:133556992..133556993 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.1041CGC[9] (p.Ala357_Ala359del) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV000551450]|Inborn genetic diseases [RCV002413634]|not provided [RCV001619793] Chr9:130681606..130681614 [GRCh38]
Chr9:133556993..133557001 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.499G>A (p.Ala167Thr) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000553956] Chr9:130668242 [GRCh38]
Chr9:133543629 [GRCh37]
Chr9:9q34.12		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_021619.3(PRDM12):c.1041CGC[14] (p.Ala358_Ala359dup) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV000554804]|not provided [RCV001683589] Chr9:130681605..130681606 [GRCh38]
Chr9:133556992..133556993 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.1044_1045insACC (p.Ala348_Ala349insThr) insertion Congenital insensitivity to pain-hypohidrosis syndrome [RCV000558731]|Inborn genetic diseases [RCV003343923] Chr9:130681607..130681608 [GRCh38]
Chr9:133556994..133556995 [GRCh37]
Chr9:9q34.12		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
NM_021619.3(PRDM12):c.811T>G (p.Phe271Val) single nucleotide variant not provided [RCV000492891] Chr9:130681376 [GRCh38]
Chr9:133556763 [GRCh37]
Chr9:9q34.12		 likely pathogenic
NM_021619.3(PRDM12):c.426G>A (p.Glu142=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000539053]|Inborn genetic diseases [RCV002330971]|not provided [RCV001551758] Chr9:130668169 [GRCh38]
Chr9:133543556 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.600_606delinsCA (p.Trp201fs) indel not provided [RCV000519217] Chr9:130678558..130678564 [GRCh38]
Chr9:133553945..133553951 [GRCh37]
Chr9:9q34.12		 likely pathogenic
NM_021619.3(PRDM12):c.715C>A (p.Pro239Thr) single nucleotide variant Inborn genetic diseases [RCV003276235] Chr9:130681280 [GRCh38]
Chr9:133556667 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1034_1039dup (p.Pro345_Ala346dup) duplication Congenital insensitivity to pain-hypohidrosis syndrome [RCV000652886] Chr9:130681593..130681594 [GRCh38]
Chr9:133556980..133556981 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.570+1GT[10] microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV000652887] Chr9:130668313..130668314 [GRCh38]
Chr9:133543700..133543701 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1041CGC[8] (p.Ala356_Ala359del) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV000652888]|Inborn genetic diseases [RCV003243240] Chr9:130681606..130681617 [GRCh38]
Chr9:133556993..133557004 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1041CGC[16] (p.Ala356_Ala359dup) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV000652889] Chr9:130681605..130681606 [GRCh38]
Chr9:133556992..133556993 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.1041CGC[5] (p.Ala353_Ala359del) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV000537474]|Inborn genetic diseases [RCV004024345] Chr9:130681606..130681626 [GRCh38]
Chr9:133556993..133557013 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.982A>G (p.Thr328Ala) single nucleotide variant Inborn genetic diseases [RCV003255771] Chr9:130681547 [GRCh38]
Chr9:133556934 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1041CGC[10] (p.Ala358_Ala359del) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV000539915]|Inborn genetic diseases [RCV002525327] Chr9:130681606..130681611 [GRCh38]
Chr9:133556993..133556998 [GRCh37]
Chr9:9q34.12		 benign|likely benign
NM_021619.3(PRDM12):c.1041CGC[7] (p.Ala355_Ala359del) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV000536276]|PRDM12-related disorder [RCV003945324]|not provided [RCV001591291] Chr9:130681606..130681620 [GRCh38]
Chr9:133556993..133557007 [GRCh37]
Chr9:9q34.12		 benign|likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_021619.3(PRDM12):c.1039C>G (p.Leu347Val) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000688345] Chr9:130681604 [GRCh38]
Chr9:133556991 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.607G>A (p.Gly203Arg) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000706791]|Inborn genetic diseases [RCV002352217] Chr9:130678565 [GRCh38]
Chr9:133553952 [GRCh37]
Chr9:9q34.12		 benign|uncertain significance
NM_021619.3(PRDM12):c.831C>G (p.Asn277Lys) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000693762] Chr9:130681396 [GRCh38]
Chr9:133556783 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.995C>T (p.Ala332Val) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000700550] Chr9:130681560 [GRCh38]
Chr9:133556947 [GRCh37]
Chr9:9q34.12		 uncertain significance
NC_000009.12:g.(?_130678509)_(130678660_?)del deletion Congenital insensitivity to pain-hypohidrosis syndrome [RCV000708377] Chr9:130678509..130678660 [GRCh38]
Chr9:133553896..133554047 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1003C>A (p.Pro335Thr) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000692744] Chr9:130681568 [GRCh38]
Chr9:133556955 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.440G>A (p.Arg147His) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000688343]|Inborn genetic diseases [RCV002331341]|not provided [RCV002274088] Chr9:130668183 [GRCh38]
Chr9:133543570 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1093A>G (p.Met365Val) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000694155] Chr9:130681658 [GRCh38]
Chr9:133557045 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1022ACGCGC[3] (p.341HA[3]) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV000692103]|Inborn genetic diseases [RCV002386199]|not provided [RCV004692119] Chr9:130681583..130681584 [GRCh38]
Chr9:133556970..133556971 [GRCh37]
Chr9:9q34.12		 likely benign|uncertain significance
NM_021619.3(PRDM12):c.570+281A>T single nucleotide variant not provided [RCV001609239] Chr9:130668594 [GRCh38]
Chr9:133543981 [GRCh37]
Chr9:9q34.12		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 copy number loss not provided [RCV000748671] Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.11-34.12(chr9:131413885-133866894)x1 copy number loss not provided [RCV000748699] Chr9:131413885..133866894 [GRCh37]
Chr9:9q34.11-34.12		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_021619.3(PRDM12):c.415-200C>A single nucleotide variant not provided [RCV001581857] Chr9:130667958 [GRCh38]
Chr9:133543345 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.435G>A (p.Thr145=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002066065] Chr9:130668178 [GRCh38]
Chr9:133543565 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.450C>T (p.Ile150=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001474121] Chr9:130668193 [GRCh38]
Chr9:133543580 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1041CGC[17] (p.Ala355_Ala359dup) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV001051772] Chr9:130681605..130681606 [GRCh38]
Chr9:133556992..133556993 [GRCh37]
Chr9:9q34.12		 uncertain significance
GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071) copy number loss not provided [RCV000767561] Chr9:131670024..134514071 [GRCh37]
Chr9:9q34.11-34.13		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_021619.3(PRDM12):c.540C>T (p.Ile180=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000872190] Chr9:130668283 [GRCh38]
Chr9:133543670 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1020G>T (p.Pro340=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001428766] Chr9:130681585 [GRCh38]
Chr9:133556972 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1041CGC[11] (p.Ala359del) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV000803110]|Inborn genetic diseases [RCV003166223]|not provided [RCV001637992] Chr9:130681606..130681608 [GRCh38]
Chr9:133556993..133556995 [GRCh37]
Chr9:9q34.12		 benign|likely benign|uncertain significance
NM_021619.3(PRDM12):c.979A>G (p.Ser327Gly) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV000817466] Chr9:130681544 [GRCh38]
Chr9:133556931 [GRCh37]
Chr9:9q34.12		 uncertain significance
NC_000009.12:g.130677193_130686925del deletion Congenital insensitivity to pain-hypohidrosis syndrome [RCV000850246] Chr9:130677172..130686904 [GRCh38]
Chr9:133552559..133562291 [GRCh37]
Chr9:9q34.12		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q34.11-34.12(chr9:133276056-133851405)x1 copy number loss not provided [RCV000849508] Chr9:133276056..133851405 [GRCh37]
Chr9:9q34.11-34.12		 uncertain significance
NC_000009.12:g.(?_130664644)_(131523116_?)dup duplication Autosomal recessive limb-girdle muscular dystrophy type 2K [RCV001031547] Chr9:133540031..134398503 [GRCh37]
Chr9:9q34.12-34.13		 uncertain significance
NM_021619.3(PRDM12):c.1032_1043dup (p.Pro345_Ala348dup) duplication Congenital insensitivity to pain-hypohidrosis syndrome [RCV001208210] Chr9:130681593..130681594 [GRCh38]
Chr9:133556980..133556981 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.337G>A (p.Glu113Lys) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001206606] Chr9:130666721 [GRCh38]
Chr9:133542108 [GRCh37]
Chr9:9q34.12		 uncertain significance
GRCh37/hg19 9q34.12(chr9:133553916-133554028) copy number loss Congenital insensitivity to pain-hypohidrosis syndrome [RCV001195158] Chr9:133553916..133554028 [GRCh37]
Chr9:9q34.12		 pathogenic
NM_021619.3(PRDM12):c.986C>T (p.Ala329Val) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001215050] Chr9:130681551 [GRCh38]
Chr9:133556938 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.341T>C (p.Met114Thr) single nucleotide variant Inborn genetic diseases [RCV003270793] Chr9:130666725 [GRCh38]
Chr9:133542112 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.2T>C (p.Met1Thr) single nucleotide variant Inborn genetic diseases [RCV003240783] Chr9:130664655 [GRCh38]
Chr9:133540042 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.223+170C>T single nucleotide variant not provided [RCV001588565] Chr9:130665046 [GRCh38]
Chr9:133540433 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.223+244C>A single nucleotide variant not provided [RCV001612256] Chr9:130665120 [GRCh38]
Chr9:133540507 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.*51C>T single nucleotide variant not provided [RCV001550240] Chr9:130681720 [GRCh38]
Chr9:133557107 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.682+162C>T single nucleotide variant not provided [RCV001636417] Chr9:130678802 [GRCh38]
Chr9:133554189 [GRCh37]
Chr9:9q34.12		 benign
NC_000009.12:g.130664313G>A single nucleotide variant not provided [RCV001551177] Chr9:130664313 [GRCh38]
Chr9:133539700 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.224-85C>T single nucleotide variant not provided [RCV001667473] Chr9:130666523 [GRCh38]
Chr9:133541910 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.224-37C>T single nucleotide variant not provided [RCV001552375] Chr9:130666571 [GRCh38]
Chr9:133541958 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.683-294T>C single nucleotide variant not provided [RCV001552824] Chr9:130680954 [GRCh38]
Chr9:133556341 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.729G>A (p.Met243Ile) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001235505] Chr9:130681294 [GRCh38]
Chr9:133556681 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1049_1050insTGC (p.Ala359dup) insertion Congenital insensitivity to pain-hypohidrosis syndrome [RCV001222458] Chr9:130681612..130681613 [GRCh38]
Chr9:133556999..133557000 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.742T>G (p.Cys248Gly) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001563585]|not provided [RCV001658296] Chr9:130681307 [GRCh38]
Chr9:133556694 [GRCh37]
Chr9:9q34.12		 likely pathogenic|uncertain significance
NM_021619.3(PRDM12):c.788G>A (p.Arg263His) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001563586]|not provided [RCV001655904] Chr9:130681353 [GRCh38]
Chr9:133556740 [GRCh37]
Chr9:9q34.12		 likely pathogenic|uncertain significance
NM_021619.3(PRDM12):c.683-27CCCCG[5] microsatellite PRDM12-related disorder [RCV003948590]|not provided [RCV001555127] Chr9:130681220..130681221 [GRCh38]
Chr9:133556607..133556608 [GRCh37]
Chr9:9q34.12		 benign|likely benign
NC_000009.12:g.130664274A>G single nucleotide variant not provided [RCV001716260] Chr9:130664274 [GRCh38]
Chr9:133539661 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.683-200del deletion not provided [RCV001635617] Chr9:130681046 [GRCh38]
Chr9:133556433 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.224-254C>T single nucleotide variant not provided [RCV001591544] Chr9:130666354 [GRCh38]
Chr9:133541741 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.415-279C>G single nucleotide variant not provided [RCV001592272] Chr9:130667879 [GRCh38]
Chr9:133543266 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.503G>A (p.Arg168His) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001228371] Chr9:130668246 [GRCh38]
Chr9:133543633 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.*49C>T single nucleotide variant not provided [RCV001690402] Chr9:130681718 [GRCh38]
Chr9:133557105 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.*52C>G single nucleotide variant not provided [RCV001616514] Chr9:130681721 [GRCh38]
Chr9:133557108 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.571-36G>A single nucleotide variant not provided [RCV001589958] Chr9:130678493 [GRCh38]
Chr9:133553880 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.620A>G (p.Asn207Ser) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001053389]|Inborn genetic diseases [RCV003353132] Chr9:130678578 [GRCh38]
Chr9:133553965 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1028A>C (p.His343Pro) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001059611]|Inborn genetic diseases [RCV002379578] Chr9:130681593 [GRCh38]
Chr9:133556980 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1041CGC[18] (p.Ala354_Ala359dup) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV001051882] Chr9:130681605..130681606 [GRCh38]
Chr9:133556992..133556993 [GRCh37]
Chr9:9q34.12		 likely pathogenic
NC_000009.12:g.(?_130664644)_(130681679_?)dup duplication Congenital insensitivity to pain-hypohidrosis syndrome [RCV001033508] Chr9:133540031..133557066 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.433A>C (p.Thr145Pro) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001343309] Chr9:130668176 [GRCh38]
Chr9:133543563 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.683-5G>A single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001414506] Chr9:130681243 [GRCh38]
Chr9:133556630 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1014C>T (p.Pro338=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001464962] Chr9:130681579 [GRCh38]
Chr9:133556966 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.415-176T>G single nucleotide variant not provided [RCV001537053] Chr9:130667982 [GRCh38]
Chr9:133543369 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1077G>T (p.Ala359=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001434557] Chr9:130681642 [GRCh38]
Chr9:133557029 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.219C>T (p.Ser73=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002071896]|not provided [RCV001530611] Chr9:130664872 [GRCh38]
Chr9:133540259 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.318G>C (p.Thr106=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001407609] Chr9:130666702 [GRCh38]
Chr9:133542089 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1056del (p.Ala353fs) deletion Congenital insensitivity to pain-hypohidrosis syndrome [RCV001408649] Chr9:130681620 [GRCh38]
Chr9:133557007 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.81T>C (p.Val27=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001411796] Chr9:130664734 [GRCh38]
Chr9:133540121 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.987G>A (p.Ala329=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001485171] Chr9:130681552 [GRCh38]
Chr9:133556939 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.682+38A>G single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001789435]|not provided [RCV001611187] Chr9:130678678 [GRCh38]
Chr9:133554065 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.1073_1074insGGC (p.Ala359dup) insertion Congenital insensitivity to pain-hypohidrosis syndrome [RCV001511016] Chr9:130681636..130681637 [GRCh38]
Chr9:133557023..133557024 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.*66G>A single nucleotide variant not provided [RCV001715929] Chr9:130681735 [GRCh38]
Chr9:133557122 [GRCh37]
Chr9:9q34.12		 benign
NC_000009.12:g.130664464C>A single nucleotide variant not provided [RCV001588208] Chr9:130664464 [GRCh38]
Chr9:133539851 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.570+280G>T single nucleotide variant not provided [RCV001692713] Chr9:130668593 [GRCh38]
Chr9:133543980 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.570+1GT[9] microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV001522844] Chr9:130668313..130668314 [GRCh38]
Chr9:133543700..133543701 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.224-1G>A single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001385116] Chr9:130666607 [GRCh38]
Chr9:133541994 [GRCh37]
Chr9:9q34.12		 pathogenic
NM_021619.3(PRDM12):c.978C>T (p.Pro326=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001512043]|not provided [RCV001538426] Chr9:130681543 [GRCh38]
Chr9:133556930 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.654A>G (p.Leu218=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001436299] Chr9:130678612 [GRCh38]
Chr9:133553999 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.648C>T (p.Pro216=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001512042]|not provided [RCV001615184] Chr9:130678606 [GRCh38]
Chr9:133553993 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.570+2T>G single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001784876] Chr9:130668315 [GRCh38]
Chr9:133543702 [GRCh37]
Chr9:9q34.12		 pathogenic
NM_021619.3(PRDM12):c.1041_1042insCGC (p.Leu347_Ala348insArg) insertion not provided [RCV001764987] Chr9:130681605..130681606 [GRCh38]
Chr9:133556992..133556993 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.775C>G (p.Arg259Gly) single nucleotide variant not provided [RCV001752283] Chr9:130681340 [GRCh38]
Chr9:133556727 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.131_138del (p.Val44fs) deletion Congenital insensitivity to pain-hypohidrosis syndrome [RCV001784875] Chr9:130664783..130664790 [GRCh38]
Chr9:133540170..133540177 [GRCh37]
Chr9:9q34.12		 pathogenic
NM_021619.3(PRDM12):c.422A>G (p.Asn141Ser) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001868462]|Inborn genetic diseases [RCV002329732]|not provided [RCV001757109] Chr9:130668165 [GRCh38]
Chr9:133543552 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.785T>G (p.Met262Arg) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001805751] Chr9:130681350 [GRCh38]
Chr9:133556737 [GRCh37]
Chr9:9q34.12		 pathogenic
NM_021619.3(PRDM12):c.159G>C (p.Lys53Asn) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001874807] Chr9:130664812 [GRCh38]
Chr9:133540199 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.566T>C (p.Ile189Thr) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001970613] Chr9:130668309 [GRCh38]
Chr9:133543696 [GRCh37]
Chr9:9q34.12		 uncertain significance
NC_000009.11:g.(?_133327616)_(133589862_?)dup duplication Citrullinemia [RCV001864660] Chr9:133327616..133589862 [GRCh37]
Chr9:9q34.11-34.12		 uncertain significance
NM_021619.3(PRDM12):c.8G>T (p.Gly3Val) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001948851] Chr9:130664661 [GRCh38]
Chr9:133540048 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.572T>C (p.Met191Thr) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001948130]|Inborn genetic diseases [RCV002344039] Chr9:130678530 [GRCh38]
Chr9:133553917 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.472C>T (p.Arg158Trp) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001863869]|Inborn genetic diseases [RCV002334749] Chr9:130668215 [GRCh38]
Chr9:133543602 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1044_1047del (p.Ala349fs) deletion Congenital insensitivity to pain-hypohidrosis syndrome [RCV001896865] Chr9:130681608..130681611 [GRCh38]
Chr9:133556995..133556998 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.20C>T (p.Pro7Leu) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001971198] Chr9:130664673 [GRCh38]
Chr9:133540060 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.522C>A (p.Asn174Lys) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002003532] Chr9:130668265 [GRCh38]
Chr9:133543652 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.515A>G (p.Glu172Gly) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001912797] Chr9:130668258 [GRCh38]
Chr9:133543645 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.538A>G (p.Ile180Val) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001985026]|Inborn genetic diseases [RCV002344096] Chr9:130668281 [GRCh38]
Chr9:133543668 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.62G>A (p.Gly21Glu) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002039715] Chr9:130664715 [GRCh38]
Chr9:133540102 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.78G>T (p.Glu26Asp) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001927749] Chr9:130664731 [GRCh38]
Chr9:133540118 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1067C>T (p.Ala356Val) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001907657] Chr9:130681632 [GRCh38]
Chr9:133557019 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.406A>G (p.Met136Val) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001969020] Chr9:130666790 [GRCh38]
Chr9:133542177 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.721G>A (p.Gly241Ser) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001892100] Chr9:130681286 [GRCh38]
Chr9:133556673 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.667A>C (p.Lys223Gln) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002039489] Chr9:130678625 [GRCh38]
Chr9:133554012 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1022A>C (p.His341Pro) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001872857]|Inborn genetic diseases [RCV002440952] Chr9:130681587 [GRCh38]
Chr9:133556974 [GRCh37]
Chr9:9q34.12		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NC_000009.11:g.(?_133540041)_(133543720_?)dup duplication Congenital insensitivity to pain-hypohidrosis syndrome [RCV002004637] Chr9:133540041..133543720 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.683-1G>A single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001843830] Chr9:130681247 [GRCh38]
Chr9:133556634 [GRCh37]
Chr9:9q34.12		 likely pathogenic
NM_021619.3(PRDM12):c.681T>C (p.His227=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001952925] Chr9:130678639 [GRCh38]
Chr9:133554026 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.508G>A (p.Glu170Lys) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001870524]|Inborn genetic diseases [RCV004040467] Chr9:130668251 [GRCh38]
Chr9:133543638 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1034C>T (p.Pro345Leu) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001897948] Chr9:130681599 [GRCh38]
Chr9:133556986 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.682G>C (p.Glu228Gln) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001951862]|Inborn genetic diseases [RCV002361239] Chr9:130678640 [GRCh38]
Chr9:133554027 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1038_1040del (p.Leu347del) deletion Congenital insensitivity to pain-hypohidrosis syndrome [RCV001992476] Chr9:130681603..130681605 [GRCh38]
Chr9:133556990..133556992 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.640G>A (p.Gly214Ser) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001920887] Chr9:130678598 [GRCh38]
Chr9:133553985 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1012C>T (p.Pro338Ser) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002009659] Chr9:130681577 [GRCh38]
Chr9:133556964 [GRCh37]
Chr9:9q34.12		 uncertain significance
NC_000009.11:g.(?_133553896)_(133557056_?)del deletion Congenital insensitivity to pain-hypohidrosis syndrome [RCV001993068] Chr9:133553896..133557056 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.46G>C (p.Gly16Arg) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001870178] Chr9:130664699 [GRCh38]
Chr9:133540086 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1076_1077insCTC (p.Ala359_His360insSer) insertion Congenital insensitivity to pain-hypohidrosis syndrome [RCV001960828] Chr9:130681640..130681641 [GRCh38]
Chr9:133557027..133557028 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.993_1013dup (p.His333_Ala339dup) duplication Congenital insensitivity to pain-hypohidrosis syndrome [RCV002010318] Chr9:130681557..130681558 [GRCh38]
Chr9:133556944..133556945 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1033C>G (p.Pro345Ala) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001997604] Chr9:130681598 [GRCh38]
Chr9:133556985 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.430G>A (p.Gly144Ser) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001957784] Chr9:130668173 [GRCh38]
Chr9:133543560 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.59C>A (p.Pro20Gln) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001903947] Chr9:130664712 [GRCh38]
Chr9:133540099 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.182C>T (p.Thr61Ile) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001886369] Chr9:130664835 [GRCh38]
Chr9:133540222 [GRCh37]
Chr9:9q34.12		 uncertain significance
NC_000009.11:g.(?_133553896)_(133557056_?)dup duplication Congenital insensitivity to pain-hypohidrosis syndrome [RCV002014758] Chr9:133553896..133557056 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.401A>G (p.Asn134Ser) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001998458] Chr9:130666785 [GRCh38]
Chr9:133542172 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.655G>A (p.Glu219Lys) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002031327] Chr9:130678613 [GRCh38]
Chr9:133554000 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.767_790dup (p.Ser256_Arg263dup) duplication Congenital insensitivity to pain-hypohidrosis syndrome [RCV002050041] Chr9:130681326..130681327 [GRCh38]
Chr9:133556713..133556714 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.301G>A (p.Gly101Ser) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001979746] Chr9:130666685 [GRCh38]
Chr9:133542072 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.992_1012dup (p.Gln331_Leu337dup) duplication Congenital insensitivity to pain-hypohidrosis syndrome [RCV001886037] Chr9:130681547..130681548 [GRCh38]
Chr9:133556934..133556935 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1095G>A (p.Met365Ile) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001999113] Chr9:130681660 [GRCh38]
Chr9:133557047 [GRCh37]
Chr9:9q34.12		 uncertain significance
NC_000009.11:g.(?_133333768)_(133967174_?)del deletion not provided [RCV001902487] Chr9:133333768..133967174 [GRCh37]
Chr9:9q34.11-34.12		 uncertain significance
NM_021619.3(PRDM12):c.266T>C (p.Ile89Thr) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001960156] Chr9:130666650 [GRCh38]
Chr9:133542037 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.127A>G (p.Asn43Asp) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV001990867]|Inborn genetic diseases [RCV002370647]|not provided [RCV003883732] Chr9:130664780 [GRCh38]
Chr9:133540167 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1065C>G (p.Ala355=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002147197]|not provided [RCV003434422] Chr9:130681630 [GRCh38]
Chr9:133557017 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1084C>T (p.Leu362=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002074553] Chr9:130681649 [GRCh38]
Chr9:133557036 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.606C>T (p.Tyr202=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002106175]|PRDM12-related disorder [RCV003951175] Chr9:130678564 [GRCh38]
Chr9:133553951 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.231G>A (p.Gln77=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002088393] Chr9:130666615 [GRCh38]
Chr9:133542002 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.414+8C>T single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002093005] Chr9:130666806 [GRCh38]
Chr9:133542193 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.993G>A (p.Gln331=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002207751] Chr9:130681558 [GRCh38]
Chr9:133556945 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1032G>A (p.Ala344=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002151136] Chr9:130681597 [GRCh38]
Chr9:133556984 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.882G>A (p.Thr294=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002119940] Chr9:130681447 [GRCh38]
Chr9:133556834 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.570+1GT[7] microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV002136287] Chr9:130668314..130668315 [GRCh38]
Chr9:133543701..133543702 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.682+18G>A single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002100784] Chr9:130678658 [GRCh38]
Chr9:133554045 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.683-9C>T single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002202505] Chr9:130681239 [GRCh38]
Chr9:133556626 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.980G>C (p.Ser327Thr) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002159935]|Inborn genetic diseases [RCV002372947] Chr9:130681545 [GRCh38]
Chr9:133556932 [GRCh37]
Chr9:9q34.12		 likely benign|uncertain significance
NM_021619.3(PRDM12):c.682+10C>A single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002200833] Chr9:130678650 [GRCh38]
Chr9:133554037 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.69G>C (p.Ala23=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002204902] Chr9:130664722 [GRCh38]
Chr9:133540109 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.690C>T (p.Phe230=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002144253] Chr9:130681255 [GRCh38]
Chr9:133556642 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.414+29_414+47del deletion Congenital insensitivity to pain-hypohidrosis syndrome [RCV002217237] Chr9:130666818..130666836 [GRCh38]
Chr9:133542205..133542223 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.795C>T (p.His265=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002102763] Chr9:130681360 [GRCh38]
Chr9:133556747 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.381G>A (p.Val127=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002143656]|not provided [RCV003992618] Chr9:130666765 [GRCh38]
Chr9:133542152 [GRCh37]
Chr9:9q34.12		 likely benign|uncertain significance
NM_021619.3(PRDM12):c.683-18G>T single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002216822] Chr9:130681230 [GRCh38]
Chr9:133556617 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.856C>T (p.Leu286=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002124186] Chr9:130681421 [GRCh38]
Chr9:133556808 [GRCh37]
Chr9:9q34.12		 likely benign
NC_000009.11:g.(?_131857676)_(135942612_?)dup duplication not provided [RCV003116730] Chr9:131857676..135942612 [GRCh37]
Chr9:9q34.11-34.2		 uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup duplication Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3		 uncertain significance
NM_021619.3(PRDM12):c.2T>A (p.Met1Lys) single nucleotide variant Inborn genetic diseases [RCV002435639] Chr9:130664655 [GRCh38]
Chr9:133540042 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.541G>A (p.Gly181Ser) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003096731]|Inborn genetic diseases [RCV002349482] Chr9:130668284 [GRCh38]
Chr9:133543671 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.866A>G (p.His289Arg) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002297694] Chr9:130681431 [GRCh38]
Chr9:133556818 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.547A>G (p.Ser183Gly) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003096759]|Inborn genetic diseases [RCV002349830] Chr9:130668290 [GRCh38]
Chr9:133543677 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.953A>T (p.Gln318Leu) single nucleotide variant Inborn genetic diseases [RCV002374263] Chr9:130681518 [GRCh38]
Chr9:133556905 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.719C>G (p.Ala240Gly) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003103372]|Inborn genetic diseases [RCV002370812] Chr9:130681284 [GRCh38]
Chr9:133556671 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1034C>A (p.Pro345His) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003095119]|Inborn genetic diseases [RCV002389548] Chr9:130681599 [GRCh38]
Chr9:133556986 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.649G>A (p.Gly217Arg) single nucleotide variant Inborn genetic diseases [RCV002362023] Chr9:130678607 [GRCh38]
Chr9:133553994 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.997C>T (p.His333Tyr) single nucleotide variant Inborn genetic diseases [RCV002383011] Chr9:130681562 [GRCh38]
Chr9:133556949 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1037C>G (p.Ala346Gly) single nucleotide variant Inborn genetic diseases [RCV002394533] Chr9:130681602 [GRCh38]
Chr9:133556989 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.958A>G (p.Ser320Gly) single nucleotide variant Inborn genetic diseases [RCV002374337] Chr9:130681523 [GRCh38]
Chr9:133556910 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.950A>T (p.His317Leu) single nucleotide variant Inborn genetic diseases [RCV002374169] Chr9:130681515 [GRCh38]
Chr9:133556902 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.514G>T (p.Glu172Ter) single nucleotide variant Inborn genetic diseases [RCV002338255] Chr9:130668257 [GRCh38]
Chr9:133543644 [GRCh37]
Chr9:9q34.12		 pathogenic
NM_021619.3(PRDM12):c.999C>G (p.His333Gln) single nucleotide variant Inborn genetic diseases [RCV002383065] Chr9:130681564 [GRCh38]
Chr9:133556951 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.955A>G (p.Lys319Glu) single nucleotide variant Inborn genetic diseases [RCV002374300] Chr9:130681520 [GRCh38]
Chr9:133556907 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.914A>T (p.Gln305Leu) single nucleotide variant Inborn genetic diseases [RCV002378786] Chr9:130681479 [GRCh38]
Chr9:133556866 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.391A>G (p.Lys131Glu) single nucleotide variant Inborn genetic diseases [RCV002373170] Chr9:130666775 [GRCh38]
Chr9:133542162 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.271G>A (p.Ala91Thr) single nucleotide variant Inborn genetic diseases [RCV002431269] Chr9:130666655 [GRCh38]
Chr9:133542042 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.965G>A (p.Arg322Gln) single nucleotide variant Inborn genetic diseases [RCV002376513] Chr9:130681530 [GRCh38]
Chr9:133556917 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.434C>T (p.Thr145Met) single nucleotide variant Inborn genetic diseases [RCV002332254] Chr9:130668177 [GRCh38]
Chr9:133543564 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.562G>A (p.Ala188Thr) single nucleotide variant Inborn genetic diseases [RCV002345070] Chr9:130668305 [GRCh38]
Chr9:133543692 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1048G>A (p.Ala350Thr) single nucleotide variant Inborn genetic diseases [RCV002398615] Chr9:130681613 [GRCh38]
Chr9:133557000 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.118C>T (p.Arg40Cys) single nucleotide variant Inborn genetic diseases [RCV002342894] Chr9:130664771 [GRCh38]
Chr9:133540158 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.956A>T (p.Lys319Met) single nucleotide variant Inborn genetic diseases [RCV002374317] Chr9:130681521 [GRCh38]
Chr9:133556908 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1042G>A (p.Ala348Thr) single nucleotide variant Inborn genetic diseases [RCV002392532] Chr9:130681607 [GRCh38]
Chr9:133556994 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.835C>G (p.Arg279Gly) single nucleotide variant Inborn genetic diseases [RCV002434732] Chr9:130681400 [GRCh38]
Chr9:133556787 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.303del (p.Ile102fs) deletion Congenital insensitivity to pain-hypohidrosis syndrome [RCV003016068] Chr9:130666687 [GRCh38]
Chr9:133542074 [GRCh37]
Chr9:9q34.12		 pathogenic
NM_021619.3(PRDM12):c.794A>C (p.His265Pro) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002970668] Chr9:130681359 [GRCh38]
Chr9:133556746 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1035C>T (p.Pro345=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003074300] Chr9:130681600 [GRCh38]
Chr9:133556987 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1013C>A (p.Pro338His) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002815215] Chr9:130681578 [GRCh38]
Chr9:133556965 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.976C>G (p.Pro326Ala) single nucleotide variant Inborn genetic diseases [RCV002751949] Chr9:130681541 [GRCh38]
Chr9:133556928 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.714C>T (p.Gly238=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002681335] Chr9:130681279 [GRCh38]
Chr9:133556666 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.683-7C>T single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002815819] Chr9:130681241 [GRCh38]
Chr9:133556628 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.431G>C (p.Gly144Ala) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002904445] Chr9:130668174 [GRCh38]
Chr9:133543561 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.400A>C (p.Asn134His) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002903572] Chr9:130666784 [GRCh38]
Chr9:133542171 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.138G>A (p.Gly46=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002615134] Chr9:130664791 [GRCh38]
Chr9:133540178 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1048_1049insACGCCGCCG (p.Ala349_Ala350insAspAlaAla) microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV002816239] Chr9:130681605..130681606 [GRCh38]
Chr9:133556992..133556993 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.183A>G (p.Thr61=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002593448] Chr9:130664836 [GRCh38]
Chr9:133540223 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.708G>C (p.Ala236=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003002613] Chr9:130681273 [GRCh38]
Chr9:133556660 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.897C>T (p.Tyr299=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002913974] Chr9:130681462 [GRCh38]
Chr9:133556849 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1076C>T (p.Ala359Val) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002640656] Chr9:130681641 [GRCh38]
Chr9:133557028 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.128A>G (p.Asn43Ser) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002640306] Chr9:130664781 [GRCh38]
Chr9:133540168 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.975G>A (p.Pro325=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002978983] Chr9:130681540 [GRCh38]
Chr9:133556927 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.996_1016dup (p.Ala339_Pro340insHisSerProAlaLeuProAla) duplication Congenital insensitivity to pain-hypohidrosis syndrome [RCV002886705] Chr9:130681558..130681559 [GRCh38]
Chr9:133556945..133556946 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.224-14C>T single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003079785] Chr9:130666594 [GRCh38]
Chr9:133541981 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.982A>T (p.Thr328Ser) single nucleotide variant Inborn genetic diseases [RCV002737341] Chr9:130681547 [GRCh38]
Chr9:133556934 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.439C>T (p.Arg147Cys) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002962415]|Inborn genetic diseases [RCV002949399] Chr9:130668182 [GRCh38]
Chr9:133543569 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.738C>T (p.Val246=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002923758] Chr9:130681303 [GRCh38]
Chr9:133556690 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.223G>A (p.Glu75Lys) single nucleotide variant Inborn genetic diseases [RCV002998416] Chr9:130664876 [GRCh38]
Chr9:133540263 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.682+10C>T single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002886035] Chr9:130678650 [GRCh38]
Chr9:133554037 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.224-15G>T single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003077421] Chr9:130666593 [GRCh38]
Chr9:133541980 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.570+17G>T single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002638282] Chr9:130668330 [GRCh38]
Chr9:133543717 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.132G>A (p.Val44=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002639233] Chr9:130664785 [GRCh38]
Chr9:133540172 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.983C>G (p.Thr328Ser) single nucleotide variant Inborn genetic diseases [RCV002737343] Chr9:130681548 [GRCh38]
Chr9:133556935 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.16C>T (p.Leu6Phe) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002886599] Chr9:130664669 [GRCh38]
Chr9:133540056 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1085T>A (p.Leu362Gln) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002745700] Chr9:130681650 [GRCh38]
Chr9:133557037 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.476G>A (p.Ser159Asn) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002643108] Chr9:130668219 [GRCh38]
Chr9:133543606 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.48G>A (p.Gly16=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003043194] Chr9:130664701 [GRCh38]
Chr9:133540088 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.367G>A (p.Ala123Thr) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003043212] Chr9:130666751 [GRCh38]
Chr9:133542138 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.974C>T (p.Pro325Leu) single nucleotide variant Inborn genetic diseases [RCV002713677] Chr9:130681539 [GRCh38]
Chr9:133556926 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.884G>A (p.Gly295Asp) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002801690] Chr9:130681449 [GRCh38]
Chr9:133556836 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.694C>T (p.Pro232Ser) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002917626] Chr9:130681259 [GRCh38]
Chr9:133556646 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.368C>T (p.Ala123Val) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002890220] Chr9:130666752 [GRCh38]
Chr9:133542139 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.989T>C (p.Leu330Pro) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002595429] Chr9:130681554 [GRCh38]
Chr9:133556941 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.161G>A (p.Ser54Asn) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002801067] Chr9:130664814 [GRCh38]
Chr9:133540201 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.571-11C>T single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002594762] Chr9:130678518 [GRCh38]
Chr9:133553905 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1007C>T (p.Ala336Val) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002595295] Chr9:130681572 [GRCh38]
Chr9:133556959 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.696G>T (p.Pro232=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002917627] Chr9:130681261 [GRCh38]
Chr9:133556648 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1005C>G (p.Pro335=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003058844] Chr9:130681570 [GRCh38]
Chr9:133556957 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.890G>T (p.Arg297Leu) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002829291] Chr9:130681455 [GRCh38]
Chr9:133556842 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.983C>T (p.Thr328Ile) single nucleotide variant Inborn genetic diseases [RCV002929619] Chr9:130681548 [GRCh38]
Chr9:133556935 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.945C>G (p.Arg315=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002988577] Chr9:130681510 [GRCh38]
Chr9:133556897 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1023C>A (p.His341Gln) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002811973] Chr9:130681588 [GRCh38]
Chr9:133556975 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.388T>C (p.Cys130Arg) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003010059] Chr9:130666772 [GRCh38]
Chr9:133542159 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.1043_1044insTGC (p.Ala359_His360insAla) insertion Congenital insensitivity to pain-hypohidrosis syndrome [RCV003044598] Chr9:130681606..130681607 [GRCh38]
Chr9:133556993..133556994 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.224-11C>G single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003062666] Chr9:130666597 [GRCh38]
Chr9:133541984 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.415-12A>G single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002899208] Chr9:130668146 [GRCh38]
Chr9:133543533 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.996A>C (p.Ala332=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003063246] Chr9:130681561 [GRCh38]
Chr9:133556948 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.683-8G>C single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003046137] Chr9:130681240 [GRCh38]
Chr9:133556627 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.662A>C (p.Asp221Ala) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003047376] Chr9:130678620 [GRCh38]
Chr9:133554007 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.682+8T>A single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003011423] Chr9:130678648 [GRCh38]
Chr9:133554035 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.507C>T (p.Asn169=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002899571] Chr9:130668250 [GRCh38]
Chr9:133543637 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.57G>T (p.Ala19=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002923005] Chr9:130664710 [GRCh38]
Chr9:133540097 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.31C>A (p.Leu11Met) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003069759] Chr9:130664684 [GRCh38]
Chr9:133540071 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.570+1GT[3] microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV002942968] Chr9:130668314..130668323 [GRCh38]
Chr9:133543701..133543710 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.70C>T (p.Leu24=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003068161] Chr9:130664723 [GRCh38]
Chr9:133540110 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.354C>T (p.Thr118=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002584237] Chr9:130666738 [GRCh38]
Chr9:133542125 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.682+14A>G single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV002585850] Chr9:130678654 [GRCh38]
Chr9:133554041 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1001C>T (p.Ser334Leu) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003068647] Chr9:130681566 [GRCh38]
Chr9:133556953 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.425A>G (p.Glu142Gly) single nucleotide variant Inborn genetic diseases [RCV003376625] Chr9:130668168 [GRCh38]
Chr9:133543555 [GRCh37]
Chr9:9q34.12		 uncertain significance
GRCh37/hg19 9q34.11-34.12(chr9:132590008-133880465)x1 copy number loss not provided [RCV003483082] Chr9:132590008..133880465 [GRCh37]
Chr9:9q34.11-34.12		 uncertain significance
NM_021619.3(PRDM12):c.663C>T (p.Asp221=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003592062] Chr9:130678621 [GRCh38]
Chr9:133554008 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.177C>T (p.Pro59=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003592833] Chr9:130664830 [GRCh38]
Chr9:133540217 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.682+19dup duplication Congenital insensitivity to pain-hypohidrosis syndrome [RCV003593116] Chr9:130678655..130678656 [GRCh38]
Chr9:133554042..133554043 [GRCh37]
Chr9:9q34.12		 benign
NM_021619.3(PRDM12):c.224-8C>G single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003593237] Chr9:130666600 [GRCh38]
Chr9:133541987 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.250C>T (p.Leu84=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003593285] Chr9:130666634 [GRCh38]
Chr9:133542021 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.224-7G>T single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003593223] Chr9:130666601 [GRCh38]
Chr9:133541988 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.683-18G>A single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003755773] Chr9:130681230 [GRCh38]
Chr9:133556617 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.714C>A (p.Gly238=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003756502] Chr9:130681279 [GRCh38]
Chr9:133556666 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1062C>T (p.Ala354=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003755786] Chr9:130681627 [GRCh38]
Chr9:133557014 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.415-13C>A single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003756639] Chr9:130668145 [GRCh38]
Chr9:133543532 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.372G>A (p.Pro124=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003592801] Chr9:130666756 [GRCh38]
Chr9:133542143 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.972_985dup (p.Ala329fs) duplication Congenital insensitivity to pain-hypohidrosis syndrome [RCV003755981] Chr9:130681530..130681531 [GRCh38]
Chr9:133556917..133556918 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.168C>T (p.His56=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003592777] Chr9:130664821 [GRCh38]
Chr9:133540208 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.224-5C>T single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003756286] Chr9:130666603 [GRCh38]
Chr9:133541990 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.93C>T (p.Asp31=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003755129] Chr9:130664746 [GRCh38]
Chr9:133540133 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.415-15T>G single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003755143] Chr9:130668143 [GRCh38]
Chr9:133543530 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.471C>T (p.His157=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003840009] Chr9:130668214 [GRCh38]
Chr9:133543601 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.683-27CCCCG[2] microsatellite Congenital insensitivity to pain-hypohidrosis syndrome [RCV003756486] Chr9:130681221..130681230 [GRCh38]
Chr9:133556608..133556617 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.223+9A>G single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003756086] Chr9:130664885 [GRCh38]
Chr9:133540272 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.683-17C>T single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003756290] Chr9:130681231 [GRCh38]
Chr9:133556618 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.771C>T (p.Asn257=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003756240] Chr9:130681336 [GRCh38]
Chr9:133556723 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.723C>T (p.Gly241=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003756507] Chr9:130681288 [GRCh38]
Chr9:133556675 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.528G>A (p.Glu176=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003756256] Chr9:130668271 [GRCh38]
Chr9:133543658 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.224-7G>A single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003756349] Chr9:130666601 [GRCh38]
Chr9:133541988 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.318G>A (p.Thr106=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003756468] Chr9:130666702 [GRCh38]
Chr9:133542089 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.1009C>T (p.Leu337=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003756518] Chr9:130681574 [GRCh38]
Chr9:133556961 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.744C>T (p.Cys248=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003592888] Chr9:130681309 [GRCh38]
Chr9:133556696 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.735C>T (p.Cys245=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003755123] Chr9:130681300 [GRCh38]
Chr9:133556687 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.578dup (p.Pro194fs) duplication Congenital insensitivity to pain-hypohidrosis syndrome [RCV003592614] Chr9:130678533..130678534 [GRCh38]
Chr9:133553920..133553921 [GRCh37]
Chr9:9q34.12		 pathogenic
NM_021619.3(PRDM12):c.702C>T (p.Asp234=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003592791] Chr9:130681267 [GRCh38]
Chr9:133556654 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.415-20C>T single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003592906] Chr9:130668138 [GRCh38]
Chr9:133543525 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.683-18G>C single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003862631] Chr9:130681230 [GRCh38]
Chr9:133556617 [GRCh37]
Chr9:9q34.12		 likely benign
GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1 copy number loss not specified [RCV003986823] Chr9:131815597..134209182 [GRCh37]
Chr9:9q34.11-34.13		 pathogenic
NM_021619.3(PRDM12):c.592C>T (p.Leu198=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003871513] Chr9:130678550 [GRCh38]
Chr9:133553937 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.414+9G>C single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003853822] Chr9:130666807 [GRCh38]
Chr9:133542194 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.75C>A (p.Ala25=) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003591144] Chr9:130664728 [GRCh38]
Chr9:133540115 [GRCh37]
Chr9:9q34.12		 likely benign
NM_021619.3(PRDM12):c.496T>C (p.Cys166Arg) single nucleotide variant Inborn genetic diseases [RCV004512740] Chr9:130668239 [GRCh38]
Chr9:133543626 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.371C>A (p.Pro124Gln) single nucleotide variant Inborn genetic diseases [RCV004512738] Chr9:130666755 [GRCh38]
Chr9:133542142 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.473G>A (p.Arg158Gln) single nucleotide variant Inborn genetic diseases [RCV004512739] Chr9:130668216 [GRCh38]
Chr9:133543603 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.58C>T (p.Pro20Ser) single nucleotide variant Inborn genetic diseases [RCV004512741] Chr9:130664711 [GRCh38]
Chr9:133540098 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.641G>T (p.Gly214Val) single nucleotide variant Inborn genetic diseases [RCV004512743] Chr9:130678599 [GRCh38]
Chr9:133553986 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.286C>T (p.Pro96Ser) single nucleotide variant Congenital insensitivity to pain-hypohidrosis syndrome [RCV003990778] Chr9:130666670 [GRCh38]
Chr9:133542057 [GRCh37]
Chr9:9q34.12		 uncertain significance
NC_000009.11:g.(?_130216807)_(133557056_?)dup duplication Dystonic disorder [RCV004581825] Chr9:130216807..133557056 [GRCh37]
Chr9:9q33.3-34.12		 uncertain significance
NC_000009.11:g.(?_131346980)_(135942612_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV004581884] Chr9:131346980..135942612 [GRCh37]
Chr9:9q34.11-34.2		 uncertain significance
NC_000009.11:g.(?_131678355)_(140095163_?)dup duplication not provided [RCV004582063] Chr9:131678355..140095163 [GRCh37]
Chr9:9q34.11-34.3		 uncertain significance
NC_000009.11:g.(?_133540041)_(133884994_?)dup duplication not provided [RCV004582112] Chr9:133540041..133884994 [GRCh37]
Chr9:9q34.12		 uncertain significance
NC_000009.11:g.(?_133540041)_(133761070_?)del deletion not provided [RCV004582114] Chr9:133540041..133761070 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.59C>G (p.Pro20Arg) single nucleotide variant Inborn genetic diseases [RCV004660096] Chr9:130664712 [GRCh38]
Chr9:133540099 [GRCh37]
Chr9:9q34.12		 uncertain significance
NM_021619.3(PRDM12):c.6G>A (p.Met2Ile) single nucleotide variant not provided [RCV004769503] Chr9:130664659 [GRCh38]
Chr9:133540046 [GRCh37]
Chr9:9q34.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:743
Count of miRNA genes:500
Interacting mature miRNAs:541
Transcripts:ENST00000253008
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
643 1939 1526 1245 4310 1330 1670 2 488 1009 359 1449 4366 3690 45 3294 504 1332 1135 141

Sequence


Ensembl Acc Id: ENST00000253008   ⟹   ENSP00000253008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9130,664,594 - 130,682,983 (+)Ensembl
Ensembl Acc Id: ENST00000676323   ⟹   ENSP00000502471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9130,664,594 - 130,682,986 (+)Ensembl
RefSeq Acc Id: NM_021619   ⟹   NP_067632
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389130,664,594 - 130,682,983 (+)NCBI
GRCh379133,539,981 - 133,558,384 (+)RGD
Build 369132,529,802 - 132,548,205 (+)NCBI Archive
Celera9104,078,514 - 104,096,917 (+)RGD
HuRef9103,027,137 - 103,045,252 (+)RGD
CHM1_19133,688,996 - 133,707,405 (+)NCBI
T2T-CHM13v2.09142,869,556 - 142,887,937 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_067632 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG13447 (Get FASTA)   NCBI Sequence Viewer  
  EAW87940 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000253008
  ENSP00000253008.2
  ENSP00000502471.1
GenBank Protein Q9H4Q4 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_067632   ⟸   NM_021619
- UniProtKB: A3KFK9 (UniProtKB/Swiss-Prot),   Q9H4Q4 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000253008   ⟸   ENST00000253008
Ensembl Acc Id: ENSP00000502471   ⟸   ENST00000676323
Protein Domains
C2H2-type   SET

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H4Q4-F1-model_v2 AlphaFold Q9H4Q4 1-367 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13997 AgrOrtholog
COSMIC PRDM12 COSMIC
Ensembl Genes ENSG00000130711 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000253008 ENTREZGENE
  ENST00000253008.3 UniProtKB/Swiss-Prot
  ENST00000676323.1 UniProtKB/TrEMBL
Gene3D-CATH 2.170.270.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130711 GTEx
HGNC ID HGNC:13997 ENTREZGENE
Human Proteome Map PRDM12 Human Proteome Map
InterPro PRDM12_PR/SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zinc_finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PRDM12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:59335 UniProtKB/Swiss-Prot
NCBI Gene 59335 ENTREZGENE
OMIM 616458 OMIM
PANTHER PR DOMAIN ZINC FINGER PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PR DOMAIN ZINC FINGER PROTEIN 12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PRDM2_PR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33710 PharmGKB
PIRSF PRDM12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF82199 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6Q8PH01_HUMAN UniProtKB/TrEMBL
  A3KFK9 ENTREZGENE
  PRD12_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A3KFK9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-26 PRDM12  PR/SET domain 12    PR domain 12  Symbol and/or name change 5135510 APPROVED
2016-02-02 PRDM12  PR domain 12    PR domain containing 12  Symbol and/or name change 5135510 APPROVED