CARD14 (caspase recruitment domain family member 14) - Rat Genome Database

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Gene: CARD14 (caspase recruitment domain family member 14) Homo sapiens
Analyze
Symbol: CARD14
Name: caspase recruitment domain family member 14
RGD ID: 1350189
HGNC Page HGNC:16446
Description: Enables CARD domain binding activity. Involved in negative regulation of apoptotic process; positive regulation of protein phosphorylation; and tumor necrosis factor-mediated signaling pathway. Located in aggresome and cytosol. Implicated in pityriasis rubra pilaris and psoriasis 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bcl10-interacting maguk protein 2; BIMP2; CARD-containing MAGUK 2 protein; CARD-containing MAGUK protein 2; card-maguk protein 2; carma 2; CARMA2; caspase recruitment domain family, member 14; caspase recruitment domain-containing protein 14; FLJ38097; PRP; psoriasis susceptibility 2; PSORS2; PSS1
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
GRCh381780,170,030 - 80,209,331 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1780,169,992 - 80,216,073 (+)EnsemblGRCh38hg38GRCh38
GRCh371778,143,829 - 78,183,130 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361775,766,876 - 75,797,446 (+)NCBINCBI36Build 36hg18NCBI36
Build 341775,776,193 - 75,787,317NCBI
Celera1774,781,528 - 74,812,042 (+)NCBICelera
Cytogenetic Map17q25.3NCBI
HuRef1773,584,235 - 73,623,399 (+)NCBIHuRef
CHM1_11778,230,001 - 78,269,309 (+)NCBICHM1_1
T2T-CHM13v2.01781,070,412 - 81,109,756 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
aggresome  (IDA)
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA)
plasma membrane  (NAS)

Molecular Function
CARD domain binding  (IBA,IEA,IPI)
protein binding  (IPI)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8178173   PMID:10647885   PMID:11259443   PMID:11278692   PMID:11356195   PMID:12477932   PMID:12483297   PMID:12709815   PMID:14702039   PMID:15489334   PMID:15654961   PMID:16189514  
PMID:16344560   PMID:16733365   PMID:18029348   PMID:19851296   PMID:20198315   PMID:20237496   PMID:21302310   PMID:21873635   PMID:22521418   PMID:22521419   PMID:22703878   PMID:23013406  
PMID:23328365   PMID:23905699   PMID:24163370   PMID:24359224   PMID:24476623   PMID:24577624   PMID:24656634   PMID:24999592   PMID:25260751   PMID:25369198   PMID:25416956   PMID:25541973  
PMID:25659891   PMID:25734815   PMID:25989471   PMID:26203641   PMID:26249641   PMID:26358359   PMID:26499835   PMID:26687479   PMID:26852650   PMID:26854129   PMID:26982778   PMID:27071417  
PMID:27113748   PMID:27706581   PMID:27760266   PMID:27939769   PMID:28230860   PMID:28301045   PMID:29194363   PMID:29477734   PMID:30248356   PMID:30319628   PMID:30387497   PMID:30697821  
PMID:30998217   PMID:31286971   PMID:31323190   PMID:31486084   PMID:31849081   PMID:32234884   PMID:32296183   PMID:32323375   PMID:32572027   PMID:33316896   PMID:33622988   PMID:34004138  
PMID:34271060   PMID:34448248   PMID:34581455   PMID:36012602   PMID:36174714   PMID:36221432   PMID:36331855   PMID:36724903  


Genomics

Comparative Map Data
CARD14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381780,170,030 - 80,209,331 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1780,169,992 - 80,216,073 (+)EnsemblGRCh38hg38GRCh38
GRCh371778,143,829 - 78,183,130 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361775,766,876 - 75,797,446 (+)NCBINCBI36Build 36hg18NCBI36
Build 341775,776,193 - 75,787,317NCBI
Celera1774,781,528 - 74,812,042 (+)NCBICelera
Cytogenetic Map17q25.3NCBI
HuRef1773,584,235 - 73,623,399 (+)NCBIHuRef
CHM1_11778,230,001 - 78,269,309 (+)NCBICHM1_1
T2T-CHM13v2.01781,070,412 - 81,109,756 (+)NCBIT2T-CHM13v2.0
Card14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911119,197,923 - 119,236,205 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11119,198,594 - 119,236,201 (+)EnsemblGRCm39 Ensembl
GRCm3811119,307,093 - 119,345,379 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11119,307,768 - 119,345,375 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711119,176,101 - 119,206,689 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611119,130,877 - 119,161,465 (+)NCBIMGSCv36mm8
Celera11131,062,049 - 131,093,148 (+)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1183.36NCBI
Card14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810105,064,941 - 105,100,132 (+)NCBIGRCr8
mRatBN7.210104,572,059 - 104,601,606 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10104,566,424 - 104,601,905 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.010108,440,480 - 108,469,012 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10108,440,950 - 108,468,310 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010108,049,790 - 108,074,998 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera10103,121,921 - 103,149,691 (+)NCBICelera
Cytogenetic Map10q32.3NCBI
Card14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555062,711,942 - 2,734,219 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555062,711,061 - 2,744,555 (-)NCBIChiLan1.0ChiLan1.0
CARD14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21996,759,063 - 96,788,125 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan117101,658,755 - 101,688,564 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01774,620,152 - 74,636,895 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11780,341,261 - 80,370,692 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1780,342,810 - 80,369,707 (+)Ensemblpanpan1.1panPan2
CARD14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.191,547,645 - 1,571,567 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl91,547,686 - 1,573,581 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha92,187,504 - 2,215,755 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.092,179,981 - 2,208,232 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl92,179,976 - 2,203,130 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.192,203,394 - 2,231,638 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.092,328,838 - 2,357,073 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.092,410,129 - 2,438,381 (-)NCBIUU_Cfam_GSD_1.0
Card14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056022,216,921 - 2,242,586 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365944,174,258 - 4,194,472 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365944,174,258 - 4,195,165 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CARD14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl122,255,038 - 2,271,588 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1122,248,337 - 2,275,015 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2122,199,519 - 2,255,949 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CARD14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11672,152,673 - 72,193,299 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1672,164,840 - 72,191,624 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607743,453,015 - 43,494,530 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Card14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248019,266,170 - 9,286,891 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248019,256,441 - 9,287,822 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CARD14
1084 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001366385.1(CARD14):c.556G>A (p.Ala186Thr) single nucleotide variant Pityriasis rubra pilaris [RCV000551934] Chr17:80184119 [GRCh38]
Chr17:78157918 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.709A>C (p.Asn237His) single nucleotide variant Autoinflammatory syndrome [RCV002263760]|CARD14-related condition [RCV003905337]|Pityriasis rubra pilaris [RCV000560204] Chr17:80188410 [GRCh38]
Chr17:78162209 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2772C>T (p.His924=) single nucleotide variant Autoinflammatory syndrome [RCV002263753]|Pityriasis rubra pilaris [RCV000551404] Chr17:80207050 [GRCh38]
Chr17:78180849 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.349+5G>A single nucleotide variant Psoriasis 2 [RCV000024311] Chr17:80182795 [GRCh38]
Chr17:78156594 [GRCh37]
Chr17:17q25.3
pathogenic|risk factor
NM_001366385.1(CARD14):c.409GAG[1] (p.Glu138del) microsatellite Pityriasis rubra pilaris [RCV000029230]|Pityriasis rubra pilaris [RCV002513232] Chr17:80183970..80183972 [GRCh38]
Chr17:78157769..78157771 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
CARD14, IVS3DS, G-A, +1 single nucleotide variant Pityriasis rubra pilaris [RCV000029231] Chr17:17q25.3 pathogenic
NM_001366385.1(CARD14):c.1170C>T (p.Phe390=) single nucleotide variant Autoinflammatory syndrome [RCV002263742]|Pityriasis rubra pilaris [RCV000542164]|not provided [RCV001564771] Chr17:80191403 [GRCh38]
Chr17:78165202 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.1917C>T (p.Ala639=) single nucleotide variant Autoinflammatory syndrome [RCV002263748]|Pityriasis rubra pilaris [RCV000558739]|not provided [RCV003424093] Chr17:80201809 [GRCh38]
Chr17:78175608 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.1517C>T (p.Pro506Leu) single nucleotide variant Autoinflammatory syndrome [RCV002263746]|Pityriasis rubra pilaris [RCV000560669] Chr17:80195575 [GRCh38]
Chr17:78169374 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1789C>T (p.Arg597Trp) single nucleotide variant Autoinflammatory syndrome [RCV002263747]|Pityriasis rubra pilaris [RCV000544932]|not provided [RCV003419928] Chr17:80198529 [GRCh38]
Chr17:78172328 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.599G>T (p.Ser200Ile) single nucleotide variant Autoinflammatory syndrome [RCV002263759]|CARD14-related condition [RCV003979948]|Pityriasis rubra pilaris [RCV000545392]|not provided [RCV001811034] Chr17:80184162 [GRCh38]
Chr17:78157961 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.1415G>A (p.Arg472His) single nucleotide variant Autoinflammatory syndrome [RCV002263745]|Pityriasis rubra pilaris [RCV000545991] Chr17:80195249 [GRCh38]
Chr17:78169048 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.378G>A (p.Glu126=) single nucleotide variant Autoinflammatory syndrome [RCV002263758]|Pityriasis rubra pilaris [RCV000546194]|not provided [RCV003409771] Chr17:80183941 [GRCh38]
Chr17:78157740 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2859G>A (p.Ala953=) single nucleotide variant Autoinflammatory syndrome [RCV002263756]|CARD14-related condition [RCV003915495]|Pityriasis rubra pilaris [RCV000554894]|not provided [RCV003409770] Chr17:80208189 [GRCh38]
Chr17:78181988 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.931C>A (p.Arg311=) single nucleotide variant Autoinflammatory syndrome [RCV002263761]|Pityriasis rubra pilaris [RCV000544470] Chr17:80189840 [GRCh38]
Chr17:78163639 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.842T>A (p.Leu281Gln) single nucleotide variant Inborn genetic diseases [RCV002527619]|Pityriasis rubra pilaris [RCV002527618]|not provided [RCV000521624] Chr17:80188543 [GRCh38]
Chr17:78162342 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.349G>A (p.Gly117Ser) single nucleotide variant Papulosquamous eruptions [RCV000845181]|Pityriasis rubra pilaris [RCV001852567]|Psoriasis 2 [RCV000024310]|not provided [RCV000059698] Chr17:80182790 [GRCh38]
Chr17:78156589 [GRCh37]
Chr17:17q25.3
pathogenic|risk factor|not provided
NM_001366385.1(CARD14):c.425A>G (p.Glu142Gly) single nucleotide variant Psoriasis 2 [RCV000024312]|not provided [RCV000059701] Chr17:80183988 [GRCh38]
Chr17:78157787 [GRCh37]
Chr17:17q25.3
pathogenic|risk factor|not provided
NM_001366385.1(CARD14):c.413A>C (p.Glu138Ala) single nucleotide variant Psoriasis 2, pustular [RCV000024313]|not provided [RCV000059699] Chr17:80183976 [GRCh38]
Chr17:78157775 [GRCh37]
Chr17:17q25.3
pathogenic|risk factor|not provided
NM_001366385.1(CARD14):c.424G>A (p.Glu142Lys) single nucleotide variant Psoriasis 2 [RCV000024314]|not provided [RCV000059700] Chr17:80183987 [GRCh38]
Chr17:78157786 [GRCh37]
Chr17:17q25.3
pathogenic|risk factor|not provided
NM_001366385.1(CARD14):c.467T>C (p.Leu156Pro) single nucleotide variant Papulosquamous eruptions [RCV000845186]|Pityriasis rubra pilaris [RCV000029229]|Pityriasis rubra pilaris [RCV001852578] Chr17:80184030 [GRCh38]
Chr17:78157829 [GRCh37]
Chr17:17q25.3
pathogenic|uncertain significance
GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3 copy number gain See cases [RCV000050934] Chr17:78901959..83086677 [GRCh38]
Chr17:76898041..81044553 [GRCh37]
Chr17:74409636..78637842 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3 copy number gain See cases [RCV000050685] Chr17:78092236..83086677 [GRCh38]
Chr17:76088317..81044553 [GRCh37]
Chr17:73599912..78637842 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3 copy number gain See cases [RCV000052497] Chr17:78918650..83021095 [GRCh38]
Chr17:76914732..80978971 [GRCh37]
Chr17:74426327..78572260 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
NM_001366385.1(CARD14):c.112C>T (p.Arg38Cys) single nucleotide variant Pityriasis rubra pilaris [RCV001037380]|not provided [RCV000059692] Chr17:80181550 [GRCh38]
Chr17:78155349 [GRCh37]
Chr17:17q25.3
uncertain significance|not provided
NM_001366385.1(CARD14):c.1778T>A (p.Ile593Asn) single nucleotide variant Pityriasis rubra pilaris [RCV000632889]|Pityriasis rubra pilaris [RCV001197563]|not provided [RCV000059693] Chr17:80198518 [GRCh38]
Chr17:78172317 [GRCh37]
Chr17:17q25.3
uncertain significance|not provided
NM_001366385.1(CARD14):c.185G>A (p.Arg62Gln) single nucleotide variant Autoinflammatory syndrome [RCV002262612]|CARD14-related condition [RCV003925021]|Pityriasis rubra pilaris [RCV001082784]|not provided [RCV000059694] Chr17:80181623 [GRCh38]
Chr17:78155422 [GRCh37]
Chr17:17q25.3
benign|likely benign|not provided
NM_001366385.1(CARD14):c.2044C>T (p.Arg682Trp) single nucleotide variant Autoinflammatory syndrome [RCV002262613]|Pityriasis rubra pilaris [RCV000547541]|not provided [RCV000059695]|not specified [RCV001729377] Chr17:80202245 [GRCh38]
Chr17:78176044 [GRCh37]
Chr17:17q25.3
benign|not provided
NM_001366385.1(CARD14):c.2140G>A (p.Gly714Ser) single nucleotide variant Autoinflammatory syndrome [RCV002262614]|Pityriasis rubra pilaris [RCV001043474]|not provided [RCV000059696] Chr17:80202341 [GRCh38]
Chr17:78176140 [GRCh37]
Chr17:17q25.3
benign|likely benign|uncertain significance|not provided
NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu) single nucleotide variant Autoinflammatory syndrome [RCV002262615]|CARD14-related condition [RCV003915027]|Pityriasis rubra pilaris [RCV001084652]|not provided [RCV000059697] Chr17:80208249 [GRCh38]
Chr17:78182048 [GRCh37]
Chr17:17q25.3
benign|likely benign|not provided
NM_001366385.1(CARD14):c.449T>G (p.Leu150Arg) single nucleotide variant Autoinflammatory syndrome [RCV002262616]|CARD14-related condition [RCV003952486]|Inborn genetic diseases [RCV002513783]|Pityriasis rubra pilaris [RCV001082795]|not provided [RCV000059702] Chr17:80184012 [GRCh38]
Chr17:78157811 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001366385.1(CARD14):c.511C>A (p.His171Asn) single nucleotide variant not provided [RCV000059703] Chr17:80184074 [GRCh38]
Chr17:78157873 [GRCh37]
Chr17:17q25.3
not provided
NM_001366385.1(CARD14):c.536G>A (p.Arg179His) single nucleotide variant Autoinflammatory syndrome [RCV002262617]|Pityriasis rubra pilaris [RCV000691452]|not provided [RCV000059704] Chr17:80184099 [GRCh38]
Chr17:78157898 [GRCh37]
Chr17:17q25.3
uncertain significance|not provided
NM_001366385.1(CARD14):c.571G>T (p.Val191Leu) single nucleotide variant Pityriasis rubra pilaris [RCV001854255]|not provided [RCV000059705] Chr17:80184134 [GRCh38]
Chr17:78157933 [GRCh37]
Chr17:17q25.3
uncertain significance|not provided
NM_001366385.1(CARD14):c.599G>A (p.Ser200Asn) single nucleotide variant Autoinflammatory syndrome [RCV002262618]|Pityriasis rubra pilaris [RCV000530376]|not provided [RCV000059706] Chr17:80184162 [GRCh38]
Chr17:78157961 [GRCh37]
Chr17:17q25.3
benign|likely benign|not provided
NM_001366385.1(CARD14):c.854A>G (p.Asp285Gly) single nucleotide variant Pityriasis rubra pilaris [RCV002514310]|not provided [RCV000059707] Chr17:80189763 [GRCh38]
Chr17:78163562 [GRCh37]
Chr17:17q25.3
uncertain significance|not provided
NM_000199.3(SGSH):c.939G>A (p.Val313=) single nucleotide variant Malignant melanoma [RCV000071704] Chr17:80212081 [GRCh38]
Chr17:78185880 [GRCh37]
Chr17:75800475 [NCBI36]
Chr17:17q25.3
not provided
NM_001366385.1(CARD14):c.2792T>A (p.Met931Lys) single nucleotide variant Pityriasis rubra pilaris [RCV002564194]|not provided [RCV001507392] Chr17:80207070 [GRCh38]
Chr17:78180869 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2209A>C (p.Asn737His) single nucleotide variant Pityriasis rubra pilaris [RCV001303047] Chr17:80202410 [GRCh38]
Chr17:78176209 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.79C>T (p.Arg27Cys) single nucleotide variant Pityriasis rubra pilaris [RCV001302495] Chr17:80181517 [GRCh38]
Chr17:78155316 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1790G>A (p.Arg597Gln) single nucleotide variant Pityriasis rubra pilaris [RCV001302883] Chr17:80198530 [GRCh38]
Chr17:78172329 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1437dup (p.Ser480fs) duplication Pityriasis rubra pilaris [RCV002962023] Chr17:80195265..80195266 [GRCh38]
Chr17:78169064..78169065 [GRCh37]
Chr17:17q25.3
pathogenic|uncertain significance
NM_001366385.1(CARD14):c.463C>T (p.Gln155Ter) single nucleotide variant Pityriasis rubra pilaris [RCV001348834] Chr17:80184026 [GRCh38]
Chr17:78157825 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
NM_001366385.1(CARD14):c.176A>G (p.His59Arg) single nucleotide variant Pityriasis rubra pilaris [RCV001211665] Chr17:80181614 [GRCh38]
Chr17:78155413 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.3(chr17:78041640-78227014)x3 copy number gain See cases [RCV000240202] Chr17:78041640..78227014 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1264G>A (p.Glu422Lys) single nucleotide variant Autoinflammatory syndrome [RCV002263743]|Pityriasis rubra pilaris [RCV000552663]|not provided [RCV001555796] Chr17:80192527 [GRCh38]
Chr17:78166326 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.2191G>A (p.Ala731Thr) single nucleotide variant Pityriasis rubra pilaris [RCV000557707] Chr17:80202392 [GRCh38]
Chr17:78176191 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2267G>A (p.Cys756Tyr) single nucleotide variant Autoinflammatory syndrome [RCV002263751]|CARD14-related condition [RCV003925594]|Pityriasis rubra pilaris [RCV000551043] Chr17:80203869 [GRCh38]
Chr17:78177668 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.349+1G>A single nucleotide variant Pityriasis rubra pilaris [RCV000029231]|Pityriasis rubra pilaris [RCV001855059]|not provided [RCV000262256] Chr17:80182791 [GRCh38]
Chr17:78156590 [GRCh37]
Chr17:17q25.3
pathogenic
NM_001366385.1(CARD14):c.844-122G>A single nucleotide variant not provided [RCV001574978] Chr17:80189631 [GRCh38]
Chr17:78163430 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2962G>A (p.Ala988Thr) single nucleotide variant not provided [RCV001767345] Chr17:80208292 [GRCh38]
Chr17:78182091 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.113G>A (p.Arg38His) single nucleotide variant Pityriasis rubra pilaris [RCV002527624]|not provided [RCV000523875] Chr17:80181551 [GRCh38]
Chr17:78155350 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2257A>G (p.Thr753Ala) single nucleotide variant Inborn genetic diseases [RCV002530841]|Pityriasis rubra pilaris [RCV003767320]|not provided [RCV000585410] Chr17:80203859 [GRCh38]
Chr17:78177658 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.1428C>A (p.Pro476=) single nucleotide variant not provided [RCV000415732] Chr17:80195262 [GRCh38]
Chr17:78169061 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.1728G>A (p.Gly576=) single nucleotide variant Autoinflammatory syndrome [RCV002263669]|Pityriasis rubra pilaris [RCV001393127]|not provided [RCV000415820] Chr17:80198468 [GRCh38]
Chr17:78172267 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.412G>A (p.Glu138Lys) single nucleotide variant Papulosquamous eruptions [RCV000845185]|not provided [RCV000733245] Chr17:80183975 [GRCh38]
Chr17:78157774 [GRCh37]
Chr17:17q25.3
pathogenic
NM_001366385.1(CARD14):c.2885G>A (p.Arg962Gln) single nucleotide variant Autoinflammatory syndrome [RCV002263757]|Pityriasis rubra pilaris [RCV000533370]|not provided [RCV001613342] Chr17:80208215 [GRCh38]
Chr17:78182014 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1065C>T (p.Cys355=) single nucleotide variant Autoinflammatory syndrome [RCV002263741]|Pityriasis rubra pilaris [RCV000532017]|not provided [RCV001796097] Chr17:80190875 [GRCh38]
Chr17:78164674 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.299A>G (p.Tyr100Cys) single nucleotide variant Pityriasis rubra pilaris [RCV000532445] Chr17:80182740 [GRCh38]
Chr17:78156539 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.203T>C (p.Met68Thr) single nucleotide variant Autoinflammatory syndrome [RCV002263749]|Pityriasis rubra pilaris [RCV000537077] Chr17:80181641 [GRCh38]
Chr17:78155440 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2888C>T (p.Ala963Val) single nucleotide variant Pityriasis rubra pilaris [RCV000539103] Chr17:80208218 [GRCh38]
Chr17:78182017 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2648G>A (p.Arg883His) single nucleotide variant Autoinflammatory syndrome [RCV002263752]|Pityriasis rubra pilaris [RCV000539791]|not provided [RCV001613341] Chr17:80205609 [GRCh38]
Chr17:78179408 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2853G>A (p.Glu951=) single nucleotide variant Autoinflammatory syndrome [RCV002263755]|CARD14-related condition [RCV003925595]|Pityriasis rubra pilaris [RCV000540147]|not provided [RCV001692167] Chr17:80208183 [GRCh38]
Chr17:78181982 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2314C>T (p.Arg772Cys) single nucleotide variant Pityriasis rubra pilaris [RCV000525070] Chr17:80204257 [GRCh38]
Chr17:78178056 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000447539] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q25.3(chr17:77679924-78559726)x3 copy number gain See cases [RCV000448916] Chr17:77679924..78559726 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp) single nucleotide variant Autoinflammatory syndrome [RCV002263690]|Pityriasis rubra pilaris [RCV001516553]|Pityriasis rubra pilaris [RCV001554351]|Psoriasis 2 [RCV001554352]|not provided [RCV001539478]|not specified [RCV000454417] Chr17:80205094 [GRCh38]
Chr17:78178893 [GRCh37]
Chr17:17q25.3
benign|conflicting interpretations of pathogenicity
NM_001366385.1(CARD14):c.676-6G>A single nucleotide variant Pityriasis rubra pilaris [RCV001516549]|Pityriasis rubra pilaris [RCV001554818]|Psoriasis 2 [RCV001554819]|not provided [RCV001824769]|not specified [RCV000454483] Chr17:80188371 [GRCh38]
Chr17:78162170 [GRCh37]
Chr17:17q25.3
benign|not provided
NM_001366385.1(CARD14):c.1641G>C (p.Arg547Ser) single nucleotide variant Pityriasis rubra pilaris [RCV001520151]|Pityriasis rubra pilaris [RCV001554820]|Psoriasis 2 [RCV001554821]|not provided [RCV001643143]|not specified [RCV000454831] Chr17:80198145 [GRCh38]
Chr17:78171944 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.589G>A (p.Glu197Lys) single nucleotide variant Autoinflammatory syndrome [RCV002263699]|Pityriasis rubra pilaris [RCV001087421]|not provided [RCV000480343] Chr17:80184152 [GRCh38]
Chr17:78157951 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001366385.1(CARD14):c.2219+14T>A single nucleotide variant Pityriasis rubra pilaris [RCV001522261]|Pityriasis rubra pilaris [RCV001554826]|Psoriasis 2 [RCV001554827]|not provided [RCV001597136]|not specified [RCV000454892] Chr17:80202434 [GRCh38]
Chr17:78176233 [GRCh37]
Chr17:17q25.3
benign|conflicting interpretations of pathogenicity
NM_001366385.1(CARD14):c.2691+15G>A single nucleotide variant Pityriasis rubra pilaris [RCV001512235]|not specified [RCV000455081] Chr17:80205667 [GRCh38]
Chr17:78179466 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.2399-4A>G single nucleotide variant Pityriasis rubra pilaris [RCV001516552]|Pityriasis rubra pilaris [RCV001554349]|Psoriasis 2 [RCV001554350]|not provided [RCV001824770]|not specified [RCV000455493] Chr17:80205031 [GRCh38]
Chr17:78178830 [GRCh37]
Chr17:17q25.3
association|benign|not provided
NM_001366385.1(CARD14):c.633G>A (p.Glu211=) single nucleotide variant Pityriasis rubra pilaris [RCV001516548]|Pityriasis rubra pilaris [RCV001554814]|Psoriasis 2 [RCV001554815]|not provided [RCV001707689]|not specified [RCV000455571] Chr17:80184196 [GRCh38]
Chr17:78157995 [GRCh37]
Chr17:17q25.3
benign|conflicting interpretations of pathogenicity
NM_001366385.1(CARD14):c.1799C>T (p.Pro600Leu) single nucleotide variant Autoinflammatory syndrome [RCV002263697]|Pityriasis rubra pilaris [RCV003766678]|not provided [RCV000478014] Chr17:80198539 [GRCh38]
Chr17:78172338 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2422G>A (p.Glu808Lys) single nucleotide variant Pityriasis rubra pilaris [RCV002526625]|not provided [RCV000486919] Chr17:80205058 [GRCh38]
Chr17:78178857 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000510919] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_001366385.1(CARD14):c.960G>A (p.Glu320=) single nucleotide variant Autoinflammatory syndrome [RCV002263762]|Pityriasis rubra pilaris [RCV000560414] Chr17:80189869 [GRCh38]
Chr17:78163668 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.1759G>A (p.Gly587Ser) single nucleotide variant CARD14-related condition [RCV003409769]|Pityriasis rubra pilaris [RCV000530185] Chr17:80198499 [GRCh38]
Chr17:78172298 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2193G>A (p.Ala731=) single nucleotide variant Autoinflammatory syndrome [RCV002263750]|Pityriasis rubra pilaris [RCV000536291] Chr17:80202394 [GRCh38]
Chr17:78176193 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1806G>A (p.Ser602=) single nucleotide variant Autoinflammatory syndrome [RCV002263856]|CARD14-related condition [RCV003945588]|Pityriasis rubra pilaris [RCV000632902]|not provided [RCV003884675] Chr17:80198546 [GRCh38]
Chr17:78172345 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.1662C>T (p.Gly554=) single nucleotide variant Autoinflammatory syndrome [RCV002263860]|CARD14-related condition [RCV003965318]|Pityriasis rubra pilaris [RCV000632906] Chr17:80198402 [GRCh38]
Chr17:78172201 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1758C>T (p.Ile586=) single nucleotide variant Pityriasis rubra pilaris [RCV000632907] Chr17:80198498 [GRCh38]
Chr17:78172297 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1356+4C>T single nucleotide variant Autoinflammatory syndrome [RCV002263861]|CARD14-related condition [RCV003905695]|Pityriasis rubra pilaris [RCV000632908] Chr17:80192623 [GRCh38]
Chr17:78166422 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.2569+4T>C single nucleotide variant Autoinflammatory syndrome [RCV002261139]|Pityriasis rubra pilaris [RCV000632909]|not provided [RCV001702822] Chr17:80205209 [GRCh38]
Chr17:78179008 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.2496C>T (p.Leu832=) single nucleotide variant Autoinflammatory syndrome [RCV002263862]|Pityriasis rubra pilaris [RCV000632910]|not provided [RCV001702697] Chr17:80205132 [GRCh38]
Chr17:78178931 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.2606A>G (p.Gln869Arg) single nucleotide variant Pityriasis rubra pilaris [RCV000632886] Chr17:80205567 [GRCh38]
Chr17:78179366 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.234G>T (p.Lys78Asn) single nucleotide variant Autoinflammatory syndrome [RCV002263851]|Pityriasis rubra pilaris [RCV000632887] Chr17:80182675 [GRCh38]
Chr17:78156474 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1659-10C>T single nucleotide variant CARD14-related condition [RCV003905694]|Pityriasis rubra pilaris [RCV001404172] Chr17:80198389 [GRCh38]
Chr17:78172188 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2775C>T (p.Val925=) single nucleotide variant Autoinflammatory syndrome [RCV002263857]|Pityriasis rubra pilaris [RCV000632903]|Pityriasis rubra pilaris [RCV003326140] Chr17:80207053 [GRCh38]
Chr17:78180852 [GRCh37]
Chr17:17q25.3
benign|likely benign|uncertain significance
NM_001366385.1(CARD14):c.1659C>T (p.Ser553=) single nucleotide variant Autoinflammatory syndrome [RCV002263858]|Pityriasis rubra pilaris [RCV000632904]|not provided [RCV003411499] Chr17:80198399 [GRCh38]
Chr17:78172198 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.828G>A (p.Ser276=) single nucleotide variant Autoinflammatory syndrome [RCV002263859]|Pityriasis rubra pilaris [RCV000632905] Chr17:80188529 [GRCh38]
Chr17:78162328 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.526G>C (p.Asp176His) single nucleotide variant Autoinflammatory syndrome [RCV002263865]|Pityriasis rubra pilaris [RCV000632915] Chr17:80184089 [GRCh38]
Chr17:78157888 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.1772C>T (p.Thr591Met) single nucleotide variant Pityriasis rubra pilaris [RCV000632916]|Pityriasis rubra pilaris [RCV000990065] Chr17:80198512 [GRCh38]
Chr17:78172311 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.2829C>T (p.Gly943=) single nucleotide variant Autoinflammatory syndrome [RCV002263866]|Pityriasis rubra pilaris [RCV000632917] Chr17:80208159 [GRCh38]
Chr17:78181958 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2822G>A (p.Arg941Gln) single nucleotide variant Autoinflammatory syndrome [RCV002263754]|Pityriasis rubra pilaris [RCV000525141]|not provided [RCV003424094] Chr17:80208152 [GRCh38]
Chr17:78181951 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.1371G>A (p.Ser457=) single nucleotide variant Autoinflammatory syndrome [RCV002263744]|Pityriasis rubra pilaris [RCV000530958]|not provided [RCV001575627] Chr17:80195205 [GRCh38]
Chr17:78169004 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.2944C>T (p.Leu982Phe) single nucleotide variant Inborn genetic diseases [RCV003273174] Chr17:80208274 [GRCh38]
Chr17:78182073 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2483G>A (p.Arg828Gln) single nucleotide variant Pityriasis rubra pilaris [RCV000632888] Chr17:80205119 [GRCh38]
Chr17:78178918 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1805C>T (p.Ser602Leu) single nucleotide variant Autoinflammatory syndrome [RCV002263852]|Pityriasis rubra pilaris [RCV000632890]|not provided [RCV001811127] Chr17:80198545 [GRCh38]
Chr17:78172344 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2641G>A (p.Gly881Arg) single nucleotide variant Autoinflammatory syndrome [RCV002263853]|Pityriasis rubra pilaris [RCV000632892] Chr17:80205602 [GRCh38]
Chr17:78179401 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1370C>T (p.Ser457Leu) single nucleotide variant Inborn genetic diseases [RCV003380648]|Pityriasis rubra pilaris [RCV000632893] Chr17:80195204 [GRCh38]
Chr17:78169003 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1288C>T (p.Arg430Trp) single nucleotide variant Pityriasis rubra pilaris [RCV000632894] Chr17:80192551 [GRCh38]
Chr17:78166350 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2409G>A (p.Thr803=) single nucleotide variant Autoinflammatory syndrome [RCV002263854]|Pityriasis rubra pilaris [RCV000632895] Chr17:80205045 [GRCh38]
Chr17:78178844 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.1653G>A (p.Ser551=) single nucleotide variant Autoinflammatory syndrome [RCV002263855]|CARD14-related condition [RCV003935759]|Pityriasis rubra pilaris [RCV000632898] Chr17:80198157 [GRCh38]
Chr17:78171956 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2919C>T (p.Asp973=) single nucleotide variant Pityriasis rubra pilaris [RCV000632899] Chr17:80208249 [GRCh38]
Chr17:78182048 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1386G>A (p.Thr462=) single nucleotide variant CARD14-related condition [RCV003928054]|Pityriasis rubra pilaris [RCV000632900] Chr17:80195220 [GRCh38]
Chr17:78169019 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.329T>C (p.Val110Ala) single nucleotide variant CARD14-related condition [RCV003935760]|Pityriasis rubra pilaris [RCV000632901] Chr17:80182770 [GRCh38]
Chr17:78156569 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.2335G>A (p.Ala779Thr) single nucleotide variant CARD14-related condition [RCV003945589]|Inborn genetic diseases [RCV002528859]|Pityriasis rubra pilaris [RCV000632912] Chr17:80204278 [GRCh38]
Chr17:78178077 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.1476C>T (p.Phe492=) single nucleotide variant Autoinflammatory syndrome [RCV002263863]|Pityriasis rubra pilaris [RCV000632913]|not provided [RCV001584460] Chr17:80195310 [GRCh38]
Chr17:78169109 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.1385C>T (p.Thr462Met) single nucleotide variant Autoinflammatory syndrome [RCV002263864]|CARD14-related condition [RCV003411500]|Inborn genetic diseases [RCV002533182]|Pityriasis rubra pilaris [RCV000632914] Chr17:80195219 [GRCh38]
Chr17:78169018 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.2763C>T (p.Ile921=) single nucleotide variant Autoinflammatory syndrome [RCV002263867]|Pityriasis rubra pilaris [RCV000632918] Chr17:80207041 [GRCh38]
Chr17:78180840 [GRCh37]
Chr17:17q25.3
benign
GRCh37/hg19 17q25.3(chr17:78005894-78686171)x3 copy number gain See cases [RCV000512155] Chr17:78005894..78686171 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.881C>T (p.Ala294Val) single nucleotide variant Autoinflammatory syndrome [RCV002263719]|Pityriasis rubra pilaris [RCV000534114]|not provided [RCV000513145] Chr17:80189790 [GRCh38]
Chr17:78163589 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2159G>A (p.Arg720His) single nucleotide variant Autoinflammatory syndrome [RCV002263720]|Pityriasis rubra pilaris [RCV001303890]|not provided [RCV000513439] Chr17:80202360 [GRCh38]
Chr17:78176159 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
NM_001366385.1(CARD14):c.2315G>A (p.Arg772His) single nucleotide variant Pityriasis rubra pilaris [RCV000699577] Chr17:80204258 [GRCh38]
Chr17:78178057 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3 copy number gain not provided [RCV000683965] Chr17:76552611..81041938 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_001366385.1(CARD14):c.843+1G>T single nucleotide variant Pityriasis rubra pilaris [RCV000702436] Chr17:80188545 [GRCh38]
Chr17:78162344 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1211G>T (p.Arg404Leu) single nucleotide variant Pityriasis rubra pilaris [RCV000686321] Chr17:80191444 [GRCh38]
Chr17:78165243 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.615T>C (p.Tyr205=) single nucleotide variant Pityriasis rubra pilaris [RCV000687236] Chr17:80184178 [GRCh38]
Chr17:78157977 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.937G>A (p.Val313Met) single nucleotide variant Pityriasis rubra pilaris [RCV000687909] Chr17:80189846 [GRCh38]
Chr17:78163645 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1652C>T (p.Ser551Leu) single nucleotide variant Inborn genetic diseases [RCV002534395]|Pityriasis rubra pilaris [RCV000702331] Chr17:80198156 [GRCh38]
Chr17:78171955 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2786AGA[1] (p.Lys930del) microsatellite Pityriasis rubra pilaris [RCV000693648] Chr17:80207064..80207066 [GRCh38]
Chr17:78180863..78180865 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1828C>T (p.Arg610Cys) single nucleotide variant Pityriasis rubra pilaris [RCV000688175] Chr17:80198568 [GRCh38]
Chr17:78172367 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1046C>T (p.Ala349Val) single nucleotide variant Pityriasis rubra pilaris [RCV000691651] Chr17:80190856 [GRCh38]
Chr17:78164655 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.778G>A (p.Gly260Arg) single nucleotide variant Pityriasis rubra pilaris [RCV000685399] Chr17:80188479 [GRCh38]
Chr17:78162278 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1927C>T (p.Leu643Phe) single nucleotide variant Pityriasis rubra pilaris [RCV000706335] Chr17:80201819 [GRCh38]
Chr17:78175618 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2353C>T (p.Arg785Cys) single nucleotide variant Pityriasis rubra pilaris [RCV000697838] Chr17:80204296 [GRCh38]
Chr17:78178095 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2279G>A (p.Arg760His) single nucleotide variant Inborn genetic diseases [RCV002544848]|Pityriasis rubra pilaris [RCV000689588]|not provided [RCV003420225] Chr17:80203881 [GRCh38]
Chr17:78177680 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.1471G>A (p.Asp491Asn) single nucleotide variant Pityriasis rubra pilaris [RCV000687400] Chr17:80195305 [GRCh38]
Chr17:78169104 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.545G>A (p.Arg182His) single nucleotide variant Pityriasis rubra pilaris [RCV000689937] Chr17:80184108 [GRCh38]
Chr17:78157907 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.827C>A (p.Ser276Ter) single nucleotide variant Pityriasis rubra pilaris [RCV000695378] Chr17:80188528 [GRCh38]
Chr17:78162327 [GRCh37]
Chr17:17q25.3
pathogenic|uncertain significance
NM_001366385.1(CARD14):c.1901C>T (p.Thr634Met) single nucleotide variant Inborn genetic diseases [RCV002534473]|Pityriasis rubra pilaris [RCV000707467] Chr17:80201793 [GRCh38]
Chr17:78175592 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1658+9_1658+11del microsatellite Pityriasis rubra pilaris [RCV000695737] Chr17:80198166..80198168 [GRCh38]
Chr17:78171965..78171967 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1977C>T (p.Asp659=) single nucleotide variant Pityriasis rubra pilaris [RCV000695889] Chr17:80201869 [GRCh38]
Chr17:78175668 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp) single nucleotide variant Autoinflammatory syndrome [RCV002263936]|CARD14-related condition [RCV003945716]|Pityriasis rubra pilaris [RCV000693943]|not provided [RCV001507909] Chr17:80205112 [GRCh38]
Chr17:78178911 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001366385.1(CARD14):c.2517G>C (p.Lys839Asn) single nucleotide variant Autoinflammatory syndrome [RCV002263941]|Pityriasis rubra pilaris [RCV000699584] Chr17:80205153 [GRCh38]
Chr17:78178952 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.963+6G>A single nucleotide variant Pityriasis rubra pilaris [RCV000696811] Chr17:80189878 [GRCh38]
Chr17:78163677 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1330G>A (p.Asp444Asn) single nucleotide variant Pityriasis rubra pilaris [RCV000703587]|not provided [RCV003480793] Chr17:80192593 [GRCh38]
Chr17:78166392 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.131G>A (p.Arg44His) single nucleotide variant Pityriasis rubra pilaris [RCV000706111]|not provided [RCV003884711] Chr17:80181569 [GRCh38]
Chr17:78155368 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.963+193C>T single nucleotide variant not provided [RCV001566040] Chr17:80190065 [GRCh38]
Chr17:78163864 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2489T>C (p.Val830Ala) single nucleotide variant Pityriasis rubra pilaris [RCV001889203] Chr17:80205125 [GRCh38]
Chr17:78178924 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_001366385.1(CARD14):c.-20-36A>C single nucleotide variant not provided [RCV001669352]|not specified [RCV003394198] Chr17:80181383 [GRCh38]
Chr17:78155182 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1852-303TTTCT[5] microsatellite not provided [RCV001644244] Chr17:80201440..80201441 [GRCh38]
Chr17:78175239..78175240 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1080G>A (p.Glu360=) single nucleotide variant Pityriasis rubra pilaris [RCV001444488] Chr17:80190890 [GRCh38]
Chr17:78164689 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.350-120_350-105del microsatellite not provided [RCV001679082] Chr17:80183762..80183777 [GRCh38]
Chr17:78157561..78157576 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.27C>T (p.Ser9=) single nucleotide variant Autoinflammatory syndrome [RCV002264066]|CARD14-related condition [RCV003958061]|Pityriasis rubra pilaris [RCV000896591] Chr17:80181465 [GRCh38]
Chr17:78155264 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.-20-316del deletion not provided [RCV001691791] Chr17:80181090 [GRCh38]
Chr17:78154889 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1979-125C>A single nucleotide variant Pityriasis rubra pilaris [RCV001554824]|Psoriasis 2 [RCV001554825]|not provided [RCV001694124] Chr17:80202055 [GRCh38]
Chr17:78175854 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2399-47G>A single nucleotide variant not provided [RCV001567303] Chr17:80204988 [GRCh38]
Chr17:78178787 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2920G>A (p.Gly974Ser) single nucleotide variant Pityriasis rubra pilaris [RCV001043985] Chr17:80208250 [GRCh38]
Chr17:78182049 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2569+151A>G single nucleotide variant not provided [RCV001586900] Chr17:80205356 [GRCh38]
Chr17:78179155 [GRCh37]
Chr17:17q25.3
likely benign
GRCh37/hg19 17q25.3(chr17:78157811-78169375)x1 copy number loss not provided [RCV000752221] Chr17:78157811..78169375 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1851+458G>A single nucleotide variant not provided [RCV001643388] Chr17:80199049 [GRCh38]
Chr17:78172848 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.676-248C>T single nucleotide variant not provided [RCV001581801] Chr17:80188129 [GRCh38]
Chr17:78161928 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.363A>G (p.Thr121=) single nucleotide variant Pityriasis rubra pilaris [RCV000907027]|not provided [RCV003424463] Chr17:80183926 [GRCh38]
Chr17:78157725 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1738C>T (p.Leu580=) single nucleotide variant Pityriasis rubra pilaris [RCV000921869] Chr17:80198478 [GRCh38]
Chr17:78172277 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1356+8C>T single nucleotide variant Pityriasis rubra pilaris [RCV000970666] Chr17:80192627 [GRCh38]
Chr17:78166426 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1431G>A (p.Ala477=) single nucleotide variant Pityriasis rubra pilaris [RCV001434138] Chr17:80195265 [GRCh38]
Chr17:78169064 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1824_1825dup (p.Leu609fs) duplication Pityriasis rubra pilaris [RCV001041159] Chr17:80198563..80198564 [GRCh38]
Chr17:78172362..78172363 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1534G>C (p.Ala512Pro) single nucleotide variant Pityriasis rubra pilaris [RCV001056199] Chr17:80195592 [GRCh38]
Chr17:78169391 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2821C>T (p.Arg941Trp) single nucleotide variant Pityriasis rubra pilaris [RCV001043232] Chr17:80208151 [GRCh38]
Chr17:78181950 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2122A>C (p.Thr708Pro) single nucleotide variant Pityriasis rubra pilaris [RCV001038905] Chr17:80202323 [GRCh38]
Chr17:78176122 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.923T>C (p.Leu308Pro) single nucleotide variant Pityriasis rubra pilaris [RCV001039089] Chr17:80189832 [GRCh38]
Chr17:78163631 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.16C>T (p.Arg6Cys) single nucleotide variant Autoinflammatory syndrome [RCV002264152]|Pityriasis rubra pilaris [RCV001042020]|not provided [RCV003480916] Chr17:80181454 [GRCh38]
Chr17:78155253 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.292G>A (p.Asp98Asn) single nucleotide variant not provided [RCV000996617] Chr17:80182733 [GRCh38]
Chr17:78156532 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1356+5G>A single nucleotide variant Autoinflammatory syndrome [RCV002264176]|CARD14-related condition [RCV003413888]|Pityriasis rubra pilaris [RCV001068599]|not provided [RCV002261272] Chr17:80192624 [GRCh38]
Chr17:78166423 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2468G>A (p.Arg823Gln) single nucleotide variant Pityriasis rubra pilaris [RCV001036102] Chr17:80205104 [GRCh38]
Chr17:78178903 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2526C>T (p.Ser842=) single nucleotide variant Pityriasis rubra pilaris [RCV001070519] Chr17:80205162 [GRCh38]
Chr17:78178961 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.210C>T (p.Ala70=) single nucleotide variant Pityriasis rubra pilaris [RCV001054159]|not provided [RCV003425898] Chr17:80181648 [GRCh38]
Chr17:78155447 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.250G>A (p.Gly84Arg) single nucleotide variant Autoinflammatory syndrome [RCV002263978]|Pityriasis rubra pilaris [RCV000793026] Chr17:80182691 [GRCh38]
Chr17:78156490 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1973C>T (p.Thr658Met) single nucleotide variant Pityriasis rubra pilaris [RCV000793458] Chr17:80201865 [GRCh38]
Chr17:78175664 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1761C>G (p.Gly587=) single nucleotide variant Pityriasis rubra pilaris [RCV001492707] Chr17:80198501 [GRCh38]
Chr17:78172300 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.54A>G (p.Thr18=) single nucleotide variant Pityriasis rubra pilaris [RCV001474662] Chr17:80181492 [GRCh38]
Chr17:78155291 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2692-5C>A single nucleotide variant Pityriasis rubra pilaris [RCV001403794] Chr17:80206965 [GRCh38]
Chr17:78180764 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1827G>A (p.Leu609=) single nucleotide variant Pityriasis rubra pilaris [RCV000924049] Chr17:80198567 [GRCh38]
Chr17:78172366 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1829G>A (p.Arg610His) single nucleotide variant Autoinflammatory syndrome [RCV002264121]|Pityriasis rubra pilaris [RCV000973982] Chr17:80198569 [GRCh38]
Chr17:78172368 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.7G>A (p.Glu3Lys) single nucleotide variant Pityriasis rubra pilaris [RCV002539412] Chr17:80181445 [GRCh38]
Chr17:78155244 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.9A>G (p.Glu3=) single nucleotide variant Pityriasis rubra pilaris [RCV001450739] Chr17:80181447 [GRCh38]
Chr17:78155246 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1833G>A (p.Pro611=) single nucleotide variant Pityriasis rubra pilaris [RCV001443183] Chr17:80198573 [GRCh38]
Chr17:78172372 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1134C>G (p.Ser378Arg) single nucleotide variant Autoinflammatory syndrome [RCV002264060]|Pityriasis rubra pilaris [RCV000894286] Chr17:80191367 [GRCh38]
Chr17:78165166 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.1719G>A (p.Ala573=) single nucleotide variant Pityriasis rubra pilaris [RCV000895414] Chr17:80198459 [GRCh38]
Chr17:78172258 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2139C>T (p.Cys713=) single nucleotide variant CARD14-related condition [RCV003958063]|Pityriasis rubra pilaris [RCV000896668] Chr17:80202340 [GRCh38]
Chr17:78176139 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.796C>T (p.Arg266Cys) single nucleotide variant Autoinflammatory syndrome [RCV002264072]|Pityriasis rubra pilaris [RCV000903455]|not provided [RCV003156299] Chr17:80188497 [GRCh38]
Chr17:78162296 [GRCh37]
Chr17:17q25.3
benign|uncertain significance
NM_001366385.1(CARD14):c.2000A>T (p.Asp667Val) single nucleotide variant Pityriasis rubra pilaris [RCV000809468] Chr17:80202201 [GRCh38]
Chr17:78176000 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1414C>T (p.Arg472Cys) single nucleotide variant Autoinflammatory syndrome [RCV002264056]|Pityriasis rubra pilaris [RCV000893217] Chr17:80195248 [GRCh38]
Chr17:78169047 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.1277G>A (p.Arg426Gln) single nucleotide variant Inborn genetic diseases [RCV002538016]|Pityriasis rubra pilaris [RCV000799275] Chr17:80192540 [GRCh38]
Chr17:78166339 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1276C>T (p.Arg426Trp) single nucleotide variant Pityriasis rubra pilaris [RCV000893263] Chr17:80192539 [GRCh38]
Chr17:78166338 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1192G>C (p.Glu398Gln) single nucleotide variant Pityriasis rubra pilaris [RCV000813181] Chr17:80191425 [GRCh38]
Chr17:78165224 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp) single nucleotide variant Autoinflammatory syndrome [RCV002264019]|CARD14-related condition [RCV003396441]|Pityriasis rubra pilaris [RCV000820030]|not specified [RCV000825881] Chr17:80181643 [GRCh38]
Chr17:78155442 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_001366385.1(CARD14):c.1773G>A (p.Thr591=) single nucleotide variant Pityriasis rubra pilaris [RCV000797843] Chr17:80198513 [GRCh38]
Chr17:78172312 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.675G>A (p.Glu225=) single nucleotide variant Pityriasis rubra pilaris [RCV000797949]|Pityriasis rubra pilaris [RCV001535445] Chr17:80184238 [GRCh38]
Chr17:78158037 [GRCh37]
Chr17:17q25.3
uncertain significance|not provided
NM_001366385.1(CARD14):c.1808C>T (p.Ala603Val) single nucleotide variant Pityriasis rubra pilaris [RCV000813948] Chr17:80198548 [GRCh38]
Chr17:78172347 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1100C>T (p.Ala367Val) single nucleotide variant Inborn genetic diseases [RCV002538033]|Pityriasis rubra pilaris [RCV000799802] Chr17:80191333 [GRCh38]
Chr17:78165132 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1447T>C (p.Ser483Pro) single nucleotide variant Pityriasis rubra pilaris [RCV000816321] Chr17:80195281 [GRCh38]
Chr17:78169080 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2372G>A (p.Gly791Asp) single nucleotide variant Pityriasis rubra pilaris [RCV000801508] Chr17:80204315 [GRCh38]
Chr17:78178114 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.94C>T (p.Arg32Cys) single nucleotide variant Pityriasis rubra pilaris [RCV000800148] Chr17:80181532 [GRCh38]
Chr17:78155331 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2773G>A (p.Val925Ile) single nucleotide variant Autoinflammatory syndrome [RCV002263995]|Inborn genetic diseases [RCV003344061]|Pityriasis rubra pilaris [RCV000805372] Chr17:80207051 [GRCh38]
Chr17:78180850 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.348C>T (p.Ser116=) single nucleotide variant Autoinflammatory syndrome [RCV002264015]|Pityriasis rubra pilaris [RCV000816704] Chr17:80182789 [GRCh38]
Chr17:78156588 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.496C>T (p.Arg166Cys) single nucleotide variant Autoinflammatory syndrome [RCV002263990]|Inborn genetic diseases [RCV002538006]|Pityriasis rubra pilaris [RCV000798794] Chr17:80184059 [GRCh38]
Chr17:78157858 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2996C>T (p.Thr999Met) single nucleotide variant Pityriasis rubra pilaris [RCV000795343] Chr17:80208326 [GRCh38]
Chr17:78182125 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2330A>G (p.Asp777Gly) single nucleotide variant Pityriasis rubra pilaris [RCV000808622] Chr17:80204273 [GRCh38]
Chr17:78178072 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1192G>A (p.Glu398Lys) single nucleotide variant Pityriasis rubra pilaris [RCV000795856] Chr17:80191425 [GRCh38]
Chr17:78165224 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1595-3C>A single nucleotide variant Pityriasis rubra pilaris [RCV000817220] Chr17:80198096 [GRCh38]
Chr17:78171895 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2274G>A (p.Val758=) single nucleotide variant Pityriasis rubra pilaris [RCV000937701] Chr17:80203876 [GRCh38]
Chr17:78177675 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1979G>T (p.Gly660Val) single nucleotide variant Pityriasis rubra pilaris [RCV000796379] Chr17:80202180 [GRCh38]
Chr17:78175979 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1588A>G (p.Thr530Ala) single nucleotide variant Pityriasis rubra pilaris [RCV000817066] Chr17:80195646 [GRCh38]
Chr17:78169445 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1099G>T (p.Ala367Ser) single nucleotide variant Pityriasis rubra pilaris [RCV000797184] Chr17:80191332 [GRCh38]
Chr17:78165131 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2858C>T (p.Ala953Val) single nucleotide variant Pityriasis rubra pilaris [RCV000801124] Chr17:80208188 [GRCh38]
Chr17:78181987 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1942G>A (p.Gly648Ser) single nucleotide variant Pityriasis rubra pilaris [RCV000807825] Chr17:80201834 [GRCh38]
Chr17:78175633 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.843+5G>A single nucleotide variant Pityriasis rubra pilaris [RCV000808211] Chr17:80188549 [GRCh38]
Chr17:78162348 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.843G>A (p.Leu281=) single nucleotide variant Pityriasis rubra pilaris [RCV000791788] Chr17:80188544 [GRCh38]
Chr17:78162343 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.877G>A (p.Glu293Lys) single nucleotide variant Pityriasis rubra pilaris [RCV000794213] Chr17:80189786 [GRCh38]
Chr17:78163585 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1499G>C (p.Ser500Thr) single nucleotide variant Pityriasis rubra pilaris [RCV000818482] Chr17:80195333 [GRCh38]
Chr17:78169132 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.946G>A (p.Glu316Lys) single nucleotide variant Pityriasis rubra pilaris [RCV000805366] Chr17:80189855 [GRCh38]
Chr17:78163654 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1342G>A (p.Val448Ile) single nucleotide variant Pityriasis rubra pilaris [RCV000824525] Chr17:80192605 [GRCh38]
Chr17:78166404 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2956C>T (p.Arg986Cys) single nucleotide variant Autoinflammatory syndrome [RCV002264010]|Inborn genetic diseases [RCV002534865]|Pityriasis rubra pilaris [RCV000815302]|not provided [RCV001507393] Chr17:80208286 [GRCh38]
Chr17:78182085 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.2662C>T (p.Arg888Cys) single nucleotide variant Pityriasis rubra pilaris [RCV000809711] Chr17:80205623 [GRCh38]
Chr17:78179422 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1232C>T (p.Pro411Leu) single nucleotide variant Pityriasis rubra pilaris [RCV000793299] Chr17:80191465 [GRCh38]
Chr17:78165264 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2527G>A (p.Glu843Lys) single nucleotide variant Inborn genetic diseases [RCV002535927]|Pityriasis rubra pilaris [RCV000795408] Chr17:80205163 [GRCh38]
Chr17:78178962 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2473G>A (p.Ala825Thr) single nucleotide variant Autoinflammatory syndrome [RCV002263982]|Pityriasis rubra pilaris [RCV000793667] Chr17:80205109 [GRCh38]
Chr17:78178908 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2320G>A (p.Val774Ile) single nucleotide variant Inborn genetic diseases [RCV002537137]|Pityriasis rubra pilaris [RCV000801672] Chr17:80204263 [GRCh38]
Chr17:78178062 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1982A>C (p.Tyr661Ser) single nucleotide variant Pityriasis rubra pilaris [RCV000798775] Chr17:80202183 [GRCh38]
Chr17:78175982 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.40C>G (p.Leu14Val) single nucleotide variant Pityriasis rubra pilaris [RCV000798957] Chr17:80181478 [GRCh38]
Chr17:78155277 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1199G>A (p.Arg400His) single nucleotide variant Autoinflammatory syndrome [RCV002263992]|Pityriasis rubra pilaris [RCV000802082]|not provided [RCV001354378] Chr17:80191432 [GRCh38]
Chr17:78165231 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.356T>C (p.Met119Thr) single nucleotide variant Papulosquamous eruptions [RCV000845188]|Pityriasis rubra pilaris [RCV000817174] Chr17:80183919 [GRCh38]
Chr17:78157718 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|uncertain significance
NM_001366385.1(CARD14):c.198C>T (p.Ser66=) single nucleotide variant Autoinflammatory syndrome [RCV002264108]|Pityriasis rubra pilaris [RCV000940030] Chr17:80181636 [GRCh38]
Chr17:78155435 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2477G>A (p.Arg826Gln) single nucleotide variant Pityriasis rubra pilaris [RCV000794587] Chr17:80205113 [GRCh38]
Chr17:78178912 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.236C>T (p.Thr79Ile) single nucleotide variant Pityriasis rubra pilaris [RCV000799920] Chr17:80182677 [GRCh38]
Chr17:78156476 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.35C>T (p.Thr12Met) single nucleotide variant Autoinflammatory syndrome [RCV002264018]|Pityriasis rubra pilaris [RCV000819598] Chr17:80181473 [GRCh38]
Chr17:78155272 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.2064G>A (p.Glu688=) single nucleotide variant Pityriasis rubra pilaris [RCV001472044] Chr17:80202265 [GRCh38]
Chr17:78176064 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.496C>G (p.Arg166Gly) single nucleotide variant Pityriasis rubra pilaris [RCV000803365] Chr17:80184059 [GRCh38]
Chr17:78157858 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2871G>C (p.Glu957Asp) single nucleotide variant Pityriasis rubra pilaris [RCV000797622] Chr17:80208201 [GRCh38]
Chr17:78182000 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.380G>C (p.Cys127Ser) single nucleotide variant Papulosquamous eruptions [RCV000845182] Chr17:80183943 [GRCh38]
Chr17:78157742 [GRCh37]
Chr17:17q25.3
pathogenic
NM_001366385.1(CARD14):c.349+5G>C single nucleotide variant Papulosquamous eruptions [RCV000845183]|Pityriasis rubra pilaris [RCV003313981] Chr17:80182795 [GRCh38]
Chr17:78156594 [GRCh37]
Chr17:17q25.3
pathogenic|uncertain significance
NM_001366385.1(CARD14):c.356T>G (p.Met119Arg) single nucleotide variant Papulosquamous eruptions [RCV000845184] Chr17:80183919 [GRCh38]
Chr17:78157718 [GRCh37]
Chr17:17q25.3
pathogenic
NM_001366385.1(CARD14):c.371T>C (p.Leu124Pro) single nucleotide variant Papulosquamous eruptions [RCV000845187]|Pityriasis rubra pilaris [RCV001869284] Chr17:80183934 [GRCh38]
Chr17:78157733 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_001366385.1(CARD14):c.470A>C (p.Gln157Pro) single nucleotide variant Papulosquamous eruptions [RCV000845189] Chr17:80184033 [GRCh38]
Chr17:78157832 [GRCh37]
Chr17:17q25.3
pathogenic
NM_001366385.1(CARD14):c.1945T>A (p.Phe649Ile) single nucleotide variant Pityriasis rubra pilaris [RCV000811898] Chr17:80201837 [GRCh38]
Chr17:78175636 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_001366385.1(CARD14):c.202A>C (p.Met68Leu) single nucleotide variant Pityriasis rubra pilaris [RCV001046835] Chr17:80181640 [GRCh38]
Chr17:78155439 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.421C>G (p.Gln141Glu) single nucleotide variant Pityriasis rubra pilaris [RCV001065721] Chr17:80183984 [GRCh38]
Chr17:78157783 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2418G>C (p.Trp806Cys) single nucleotide variant not provided [RCV001172118] Chr17:80205054 [GRCh38]
Chr17:78178853 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.535C>T (p.Arg179Cys) single nucleotide variant Pityriasis rubra pilaris [RCV001046097] Chr17:80184098 [GRCh38]
Chr17:78157897 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2864AGG[2] (p.Glu957del) microsatellite Pityriasis rubra pilaris [RCV001213589] Chr17:80208194..80208196 [GRCh38]
Chr17:78181993..78181995 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.956G>A (p.Arg319Gln) single nucleotide variant Pityriasis rubra pilaris [RCV001222308] Chr17:80189865 [GRCh38]
Chr17:78163664 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1138G>C (p.Val380Leu) single nucleotide variant Inborn genetic diseases [RCV003353253]|Pityriasis rubra pilaris [RCV001240893] Chr17:80191371 [GRCh38]
Chr17:78165170 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.383T>C (p.Leu128Pro) single nucleotide variant Pityriasis rubra pilaris [RCV001224787] Chr17:80183946 [GRCh38]
Chr17:78157745 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.155T>C (p.Leu52Pro) single nucleotide variant Pityriasis rubra pilaris [RCV001239957] Chr17:80181593 [GRCh38]
Chr17:78155392 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.454C>T (p.Arg152Trp) single nucleotide variant Pityriasis rubra pilaris [RCV001227192] Chr17:80184017 [GRCh38]
Chr17:78157816 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2740C>A (p.His914Asn) single nucleotide variant Inborn genetic diseases [RCV002563906]|Pityriasis rubra pilaris [RCV001238139] Chr17:80207018 [GRCh38]
Chr17:78180817 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2869G>A (p.Glu957Lys) single nucleotide variant Pityriasis rubra pilaris [RCV001043161] Chr17:80208199 [GRCh38]
Chr17:78181998 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.653G>A (p.Arg218His) single nucleotide variant Pityriasis rubra pilaris [RCV001229780] Chr17:80184216 [GRCh38]
Chr17:78158015 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2968G>A (p.Ala990Thr) single nucleotide variant Pityriasis rubra pilaris [RCV001207795] Chr17:80208298 [GRCh38]
Chr17:78182097 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1082G>A (p.Arg361Gln) single nucleotide variant Autoinflammatory syndrome [RCV002264252]|Pityriasis rubra pilaris [RCV001247661] Chr17:80190892 [GRCh38]
Chr17:78164691 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1326C>G (p.Asp442Glu) single nucleotide variant Pityriasis rubra pilaris [RCV001216717] Chr17:80192589 [GRCh38]
Chr17:78166388 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.955C>T (p.Arg319Ter) single nucleotide variant Pityriasis rubra pilaris [RCV001236374] Chr17:80189864 [GRCh38]
Chr17:78163663 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.471G>A (p.Gln157=) single nucleotide variant Pityriasis rubra pilaris [RCV002067619]|not provided [RCV000996618] Chr17:80184034 [GRCh38]
Chr17:78157833 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter) single nucleotide variant Autoinflammatory syndrome [RCV002264136]|Pityriasis rubra pilaris [RCV001869394]|not provided [RCV000996619] Chr17:80188382 [GRCh38]
Chr17:78162181 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001366385.1(CARD14):c.1617C>A (p.Ser539Arg) single nucleotide variant Pityriasis rubra pilaris [RCV001204820]|not provided [RCV000996620] Chr17:80198121 [GRCh38]
Chr17:78171920 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1490G>C (p.Trp497Ser) single nucleotide variant Pityriasis rubra pilaris [RCV001245851] Chr17:80195324 [GRCh38]
Chr17:78169123 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.350-3C>T single nucleotide variant Pityriasis rubra pilaris [RCV001212227] Chr17:80183910 [GRCh38]
Chr17:78157709 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1357-175G>A single nucleotide variant not provided [RCV001571489] Chr17:80195016 [GRCh38]
Chr17:78168815 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2398+30A>G single nucleotide variant Pityriasis rubra pilaris [RCV001554343]|Psoriasis 2 [RCV001554344]|not provided [RCV001638166]|not specified [RCV003394140] Chr17:80204371 [GRCh38]
Chr17:78178170 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.675+26G>A single nucleotide variant Pityriasis rubra pilaris [RCV001554816]|Psoriasis 2 [RCV001554817]|not provided [RCV001685528]|not specified [RCV003399363] Chr17:80184264 [GRCh38]
Chr17:78158063 [GRCh37]
Chr17:17q25.3
benign|conflicting interpretations of pathogenicity
NM_001366385.1(CARD14):c.2807+233G>A single nucleotide variant not provided [RCV001671251] Chr17:80207318 [GRCh38]
Chr17:78181117 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.964-330C>T single nucleotide variant not provided [RCV001684362] Chr17:80190444 [GRCh38]
Chr17:78164243 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2283+121C>G single nucleotide variant not provided [RCV001650746] Chr17:80204006 [GRCh38]
Chr17:78177805 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1594+201del deletion not provided [RCV001692721] Chr17:80195853 [GRCh38]
Chr17:78169652 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1851+350C>A single nucleotide variant not provided [RCV001561551] Chr17:80198941 [GRCh38]
Chr17:78172740 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2807+293C>T single nucleotide variant not provided [RCV001556420] Chr17:80207378 [GRCh38]
Chr17:78181177 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2398+298del deletion not provided [RCV001621375] Chr17:80204628 [GRCh38]
Chr17:78178427 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.212-161G>A single nucleotide variant not provided [RCV001639748] Chr17:80182492 [GRCh38]
Chr17:78156291 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.676-269G>A single nucleotide variant not provided [RCV001592302] Chr17:80188108 [GRCh38]
Chr17:78161907 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1090-115G>A single nucleotide variant not provided [RCV001562943] Chr17:80191208 [GRCh38]
Chr17:78165007 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1852-60T>C single nucleotide variant Pityriasis rubra pilaris [RCV001554822]|Psoriasis 2 [RCV001554823]|not provided [RCV001707910]|not specified [RCV003399364] Chr17:80201684 [GRCh38]
Chr17:78175483 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.345T>C (p.Phe115=) single nucleotide variant Pityriasis rubra pilaris [RCV002077152]|not provided [RCV001700945] Chr17:80182786 [GRCh38]
Chr17:78156585 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.964-236G>C single nucleotide variant not provided [RCV001716581] Chr17:80190538 [GRCh38]
Chr17:78164337 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.-20-214G>A single nucleotide variant not provided [RCV001656866] Chr17:80181205 [GRCh38]
Chr17:78155004 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.675+223T>C single nucleotide variant not provided [RCV001617158] Chr17:80184461 [GRCh38]
Chr17:78158260 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.964-147_964-145del deletion not provided [RCV001686626] Chr17:80190613..80190615 [GRCh38]
Chr17:78164412..78164414 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1480G>C (p.Glu494Gln) single nucleotide variant not provided [RCV001767309] Chr17:80195314 [GRCh38]
Chr17:78169113 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.159C>T (p.Asp53=) single nucleotide variant CARD14-related condition [RCV003895572]|Pityriasis rubra pilaris [RCV000917124] Chr17:80181597 [GRCh38]
Chr17:78155396 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.312C>T (p.Thr104=) single nucleotide variant Autoinflammatory syndrome [RCV002264106]|CARD14-related condition [RCV003925830]|Pityriasis rubra pilaris [RCV000939588] Chr17:80182753 [GRCh38]
Chr17:78156552 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.2403C>T (p.Ser801=) single nucleotide variant Autoinflammatory syndrome [RCV002264084]|Pityriasis rubra pilaris [RCV000909986]|not provided [RCV003424466] Chr17:80205039 [GRCh38]
Chr17:78178838 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.1233G>A (p.Pro411=) single nucleotide variant Pityriasis rubra pilaris [RCV000979720] Chr17:80191466 [GRCh38]
Chr17:78165265 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.294C>T (p.Asp98=) single nucleotide variant Pityriasis rubra pilaris [RCV000931024] Chr17:80182735 [GRCh38]
Chr17:78156534 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1902G>A (p.Thr634=) single nucleotide variant Pityriasis rubra pilaris [RCV000909225] Chr17:80201794 [GRCh38]
Chr17:78175593 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1091C>T (p.Ala364Val) single nucleotide variant Autoinflammatory syndrome [RCV002264112]|CARD14-related condition [RCV003424499]|Pityriasis rubra pilaris [RCV001510633] Chr17:80191324 [GRCh38]
Chr17:78165123 [GRCh37]
Chr17:17q25.3
benign|likely benign|uncertain significance
NM_001366385.1(CARD14):c.1428C>T (p.Pro476=) single nucleotide variant Autoinflammatory syndrome [RCV002264129]|Pityriasis rubra pilaris [RCV000980375]|not provided [RCV002511007] Chr17:80195262 [GRCh38]
Chr17:78169061 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.211+7G>A single nucleotide variant Pityriasis rubra pilaris [RCV001456032] Chr17:80181656 [GRCh38]
Chr17:78155455 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2322C>T (p.Val774=) single nucleotide variant Pityriasis rubra pilaris [RCV000932102] Chr17:80204265 [GRCh38]
Chr17:78178064 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.624G>A (p.Ala208=) single nucleotide variant Pityriasis rubra pilaris [RCV000924555] Chr17:80184187 [GRCh38]
Chr17:78157986 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2807+10C>T single nucleotide variant Autoinflammatory syndrome [RCV002264078]|Pityriasis rubra pilaris [RCV000907577] Chr17:80207095 [GRCh38]
Chr17:78180894 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.1047G>A (p.Ala349=) single nucleotide variant Pityriasis rubra pilaris [RCV001404700] Chr17:80190857 [GRCh38]
Chr17:78164656 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.789G>A (p.Glu263=) single nucleotide variant Pityriasis rubra pilaris [RCV003768869] Chr17:80188490 [GRCh38]
Chr17:78162289 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.375C>T (p.Thr125=) single nucleotide variant Pityriasis rubra pilaris [RCV001485265]|not provided [RCV000930835] Chr17:80183938 [GRCh38]
Chr17:78157737 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.925C>A (p.Arg309=) single nucleotide variant Pityriasis rubra pilaris [RCV000887837] Chr17:80189834 [GRCh38]
Chr17:78163633 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.556G>T (p.Ala186Ser) single nucleotide variant Pityriasis rubra pilaris [RCV001221929] Chr17:80184119 [GRCh38]
Chr17:78157918 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1718C>T (p.Ala573Val) single nucleotide variant Pityriasis rubra pilaris [RCV001244251] Chr17:80198458 [GRCh38]
Chr17:78172257 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1660G>T (p.Gly554Cys) single nucleotide variant Pityriasis rubra pilaris [RCV001218985] Chr17:80198400 [GRCh38]
Chr17:78172199 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2497G>A (p.Val833Met) single nucleotide variant Pityriasis rubra pilaris [RCV001035784] Chr17:80205133 [GRCh38]
Chr17:78178932 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1836C>T (p.Gly612=) single nucleotide variant Pityriasis rubra pilaris [RCV001207939] Chr17:80198576 [GRCh38]
Chr17:78172375 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1170C>A (p.Phe390Leu) single nucleotide variant Autoinflammatory syndrome [RCV002264218]|Pityriasis rubra pilaris [RCV001202131] Chr17:80191403 [GRCh38]
Chr17:78165202 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.623C>A (p.Ala208Glu) single nucleotide variant Inborn genetic diseases [RCV003246805]|Pityriasis rubra pilaris [RCV001243404]|not provided [RCV003414054] Chr17:80184186 [GRCh38]
Chr17:78157985 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.177C>G (p.His59Gln) single nucleotide variant Pityriasis rubra pilaris [RCV001220336] Chr17:80181615 [GRCh38]
Chr17:78155414 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2038T>C (p.Tyr680His) single nucleotide variant Pityriasis rubra pilaris [RCV001044954] Chr17:80202239 [GRCh38]
Chr17:78176038 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2980AAG[1] (p.Lys995del) microsatellite Pityriasis rubra pilaris [RCV001217197] Chr17:80208308..80208310 [GRCh38]
Chr17:78182107..78182109 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.451C>T (p.Arg151Trp) single nucleotide variant Pityriasis rubra pilaris [RCV001209536] Chr17:80184014 [GRCh38]
Chr17:78157813 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.80G>A (p.Arg27His) single nucleotide variant Pityriasis rubra pilaris [RCV001238048]|not provided [RCV001357653] Chr17:80181518 [GRCh38]
Chr17:78155317 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.659G>A (p.Arg220His) single nucleotide variant Pityriasis rubra pilaris [RCV001227634] Chr17:80184222 [GRCh38]
Chr17:78158021 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1109G>C (p.Ser370Thr) single nucleotide variant Pityriasis rubra pilaris [RCV001228051] Chr17:80191342 [GRCh38]
Chr17:78165141 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2094T>C (p.His698=) single nucleotide variant Pityriasis rubra pilaris [RCV000889392] Chr17:80202295 [GRCh38]
Chr17:78176094 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2691+10A>T single nucleotide variant CARD14-related condition [RCV003925815]|Pityriasis rubra pilaris [RCV000934024] Chr17:80205662 [GRCh38]
Chr17:78179461 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1590G>A (p.Thr530=) single nucleotide variant Pityriasis rubra pilaris [RCV000935309] Chr17:80195648 [GRCh38]
Chr17:78169447 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2692-147C>T single nucleotide variant not provided [RCV001568479] Chr17:80206823 [GRCh38]
Chr17:78180622 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.*46T>C single nucleotide variant Autoinflammatory syndrome [RCV002264378]|not provided [RCV001550039] Chr17:80208391 [GRCh38]
Chr17:78182190 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1090-34G>A single nucleotide variant not provided [RCV001676613] Chr17:80191289 [GRCh38]
Chr17:78165088 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2219+258C>G single nucleotide variant not provided [RCV001654451] Chr17:80202678 [GRCh38]
Chr17:78176477 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1089+139C>A single nucleotide variant not provided [RCV001687507] Chr17:80191038 [GRCh38]
Chr17:78164837 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2691+311C>G single nucleotide variant not provided [RCV001593369] Chr17:80205963 [GRCh38]
Chr17:78179762 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2219+277G>C single nucleotide variant not provided [RCV001677438] Chr17:80202697 [GRCh38]
Chr17:78176496 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2808-290C>T single nucleotide variant not provided [RCV001597718] Chr17:80207848 [GRCh38]
Chr17:78181647 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2219+252T>C single nucleotide variant not provided [RCV001677828] Chr17:80202672 [GRCh38]
Chr17:78176471 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.349+173G>T single nucleotide variant not provided [RCV001686704] Chr17:80182963 [GRCh38]
Chr17:78156762 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.675+255G>T single nucleotide variant not provided [RCV001586966] Chr17:80184493 [GRCh38]
Chr17:78158292 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2398+42T>C single nucleotide variant Pityriasis rubra pilaris [RCV001554345]|Psoriasis 2 [RCV001554346]|not provided [RCV001655895]|not specified [RCV003394141] Chr17:80204383 [GRCh38]
Chr17:78178182 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.-20-319_-20-316dup duplication not provided [RCV001658460] Chr17:80181089..80181090 [GRCh38]
Chr17:78154888..78154889 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2807+123C>T single nucleotide variant not provided [RCV001715763] Chr17:80207208 [GRCh38]
Chr17:78181007 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2691+115C>T single nucleotide variant not provided [RCV001715816] Chr17:80205767 [GRCh38]
Chr17:78179566 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2692-151A>C single nucleotide variant not provided [RCV001654285] Chr17:80206819 [GRCh38]
Chr17:78180618 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.*274G>A single nucleotide variant not provided [RCV001669903] Chr17:80208619 [GRCh38]
Chr17:78182418 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2808-252A>G single nucleotide variant not provided [RCV001595173] Chr17:80207886 [GRCh38]
Chr17:78181685 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.433C>A (p.Gln145Lys) single nucleotide variant Autoinflammatory syndrome [RCV002264163]|CARD14-related condition [RCV003413851]|Pityriasis rubra pilaris [RCV001050735]|not provided [RCV003480927] Chr17:80183996 [GRCh38]
Chr17:78157795 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2742C>G (p.His914Gln) single nucleotide variant Pityriasis rubra pilaris [RCV001047500] Chr17:80207020 [GRCh38]
Chr17:78180819 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.-20-120G>A single nucleotide variant not provided [RCV001695349] Chr17:80181299 [GRCh38]
Chr17:78155098 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1239+185C>T single nucleotide variant not provided [RCV001684518] Chr17:80191657 [GRCh38]
Chr17:78165456 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.350-120C>T single nucleotide variant not provided [RCV001678739] Chr17:80183793 [GRCh38]
Chr17:78157592 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1919T>C (p.Val640Ala) single nucleotide variant Pityriasis rubra pilaris [RCV001069374] Chr17:80201811 [GRCh38]
Chr17:78175610 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1594+185G>A single nucleotide variant not provided [RCV001690142] Chr17:80195837 [GRCh38]
Chr17:78169636 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1978+142del deletion not provided [RCV001611347] Chr17:80202009 [GRCh38]
Chr17:78175808 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.484C>G (p.Leu162Val) single nucleotide variant Autoinflammatory syndrome [RCV002264157]|Pityriasis rubra pilaris [RCV001047729] Chr17:80184047 [GRCh38]
Chr17:78157846 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.26C>G (p.Ser9Cys) single nucleotide variant Pityriasis rubra pilaris [RCV001035777] Chr17:80181464 [GRCh38]
Chr17:78155263 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1239+240C>T single nucleotide variant not provided [RCV001695697] Chr17:80191712 [GRCh38]
Chr17:78165511 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1471G>T (p.Asp491Tyr) single nucleotide variant Pityriasis rubra pilaris [RCV001050402] Chr17:80195305 [GRCh38]
Chr17:78169104 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1089+88C>T single nucleotide variant not provided [RCV001692766] Chr17:80190987 [GRCh38]
Chr17:78164786 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2398+49G>A single nucleotide variant Pityriasis rubra pilaris [RCV001554347]|Psoriasis 2 [RCV001554348]|not provided [RCV001713046]|not specified [RCV003399361] Chr17:80204390 [GRCh38]
Chr17:78178189 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2398+220T>C single nucleotide variant not provided [RCV001540618] Chr17:80204561 [GRCh38]
Chr17:78178360 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1826T>C (p.Leu609Ser) single nucleotide variant Pityriasis rubra pilaris [RCV001049152] Chr17:80198566 [GRCh38]
Chr17:78172365 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1477G>A (p.Gly493Arg) single nucleotide variant Inborn genetic diseases [RCV002553361]|Pityriasis rubra pilaris [RCV001056098] Chr17:80195311 [GRCh38]
Chr17:78169110 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.1571A>G (p.Asp524Gly) single nucleotide variant Pityriasis rubra pilaris [RCV001204732] Chr17:80195629 [GRCh38]
Chr17:78169428 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.613T>C (p.Tyr205His) single nucleotide variant Inborn genetic diseases [RCV003243445]|Pityriasis rubra pilaris [RCV001056450] Chr17:80184176 [GRCh38]
Chr17:78157975 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.893G>A (p.Arg298Gln) single nucleotide variant Pityriasis rubra pilaris [RCV001035994]|not provided [RCV003480910] Chr17:80189802 [GRCh38]
Chr17:78163601 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 copy number gain not provided [RCV001006919] Chr17:73261871..78608763 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_001366385.1(CARD14):c.1673G>C (p.Arg558Pro) single nucleotide variant Pityriasis rubra pilaris [RCV001212463] Chr17:80198413 [GRCh38]
Chr17:78172212 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.267G>A (p.Leu89=) single nucleotide variant Pityriasis rubra pilaris [RCV001061241] Chr17:80182708 [GRCh38]
Chr17:78156507 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.206G>A (p.Arg69Gln) single nucleotide variant Pityriasis rubra pilaris [RCV001215216] Chr17:80181644 [GRCh38]
Chr17:78155443 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2570-1G>C single nucleotide variant Pityriasis rubra pilaris [RCV001232325] Chr17:80205530 [GRCh38]
Chr17:78179329 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1589C>T (p.Thr530Met) single nucleotide variant Pityriasis rubra pilaris [RCV001232742] Chr17:80195647 [GRCh38]
Chr17:78169446 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1394G>A (p.Arg465His) single nucleotide variant Pityriasis rubra pilaris [RCV001218590] Chr17:80195228 [GRCh38]
Chr17:78169027 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2917G>C (p.Asp973His) single nucleotide variant Pityriasis rubra pilaris [RCV001234134] Chr17:80208247 [GRCh38]
Chr17:78182046 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.544C>T (p.Arg182Cys) single nucleotide variant Autoinflammatory syndrome [RCV002264162]|Pityriasis rubra pilaris [RCV001049432] Chr17:80184107 [GRCh38]
Chr17:78157906 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2437C>G (p.Leu813Val) single nucleotide variant Pityriasis rubra pilaris [RCV001035215] Chr17:80205073 [GRCh38]
Chr17:78178872 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1463T>C (p.Val488Ala) single nucleotide variant Pityriasis rubra pilaris [RCV001064074] Chr17:80195297 [GRCh38]
Chr17:78169096 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2713G>A (p.Val905Ile) single nucleotide variant Pityriasis rubra pilaris [RCV001203655] Chr17:80206991 [GRCh38]
Chr17:78180790 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1850T>C (p.Met617Thr) single nucleotide variant Autoinflammatory syndrome [RCV002264166]|Pityriasis rubra pilaris [RCV001054491] Chr17:80198590 [GRCh38]
Chr17:78172389 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.683T>G (p.Leu228Arg) single nucleotide variant Autoinflammatory syndrome [RCV002264150]|Pityriasis rubra pilaris [RCV001041668] Chr17:80188384 [GRCh38]
Chr17:78162183 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.478C>G (p.Leu160Val) single nucleotide variant Pityriasis rubra pilaris [RCV001205205]|not provided [RCV001815512] Chr17:80184041 [GRCh38]
Chr17:78157840 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1366_1367del (p.Leu456fs) deletion Pityriasis rubra pilaris [RCV001041940] Chr17:80195200..80195201 [GRCh38]
Chr17:78168999..78169000 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1918G>A (p.Val640Met) single nucleotide variant Pityriasis rubra pilaris [RCV001062560] Chr17:80201810 [GRCh38]
Chr17:78175609 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1822G>A (p.Ala608Thr) single nucleotide variant Pityriasis rubra pilaris [RCV001048617] Chr17:80198562 [GRCh38]
Chr17:78172361 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1211G>A (p.Arg404His) single nucleotide variant Pityriasis rubra pilaris [RCV001052657] Chr17:80191444 [GRCh38]
Chr17:78165243 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2994G>A (p.Trp998Ter) single nucleotide variant Pityriasis rubra pilaris [RCV001053375] Chr17:80208324 [GRCh38]
Chr17:78182123 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2735C>G (p.Thr912Ser) single nucleotide variant Autoinflammatory syndrome [RCV002264223]|Pityriasis rubra pilaris [RCV001215515] Chr17:80207013 [GRCh38]
Chr17:78180812 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2018C>T (p.Ala673Val) single nucleotide variant Pityriasis rubra pilaris [RCV001211425] Chr17:80202219 [GRCh38]
Chr17:78176018 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000199.5(SGSH):c.734G>A (p.Arg245His) single nucleotide variant Inborn genetic diseases [RCV000623663]|Mucopolysaccharidosis [RCV001030817]|Mucopolysaccharidosis, MPS-III-A [RCV000005414]|Neurodegeneration [RCV001837434]|SGSH-related condition [RCV003415657]|Sanfilippo syndrome [RCV000348775]|not provided [RCV000078356] Chr17:80213815 [GRCh38]
Chr17:78187614 [GRCh37]
Chr17:17q25.3
pathogenic|not provided
NM_001366385.1(CARD14):c.3G>A (p.Met1Ile) single nucleotide variant Pityriasis rubra pilaris [RCV001334181] Chr17:80181441 [GRCh38]
Chr17:78155240 [GRCh37]
Chr17:17q25.3
pathogenic
NM_001366385.1(CARD14):c.1462G>A (p.Val488Met) single nucleotide variant Pityriasis rubra pilaris [RCV001349233] Chr17:80195296 [GRCh38]
Chr17:78169095 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.3011G>A (p.Arg1004Gln) single nucleotide variant Pityriasis rubra pilaris [RCV001352300] Chr17:80208341 [GRCh38]
Chr17:78182140 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1663G>A (p.Val555Ile) single nucleotide variant Inborn genetic diseases [RCV002543199]|Pityriasis rubra pilaris [RCV001307533] Chr17:80198403 [GRCh38]
Chr17:78172202 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.892C>T (p.Arg298Ter) single nucleotide variant Pityriasis rubra pilaris [RCV001955936] Chr17:80189801 [GRCh38]
Chr17:78163600 [GRCh37]
Chr17:17q25.3
pathogenic|uncertain significance
NM_001366385.1(CARD14):c.1198C>T (p.Arg400Cys) single nucleotide variant Inborn genetic diseases [RCV002541884]|Pityriasis rubra pilaris [RCV001299116] Chr17:80191431 [GRCh38]
Chr17:78165230 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78155218)_(78172575_?)dup duplication Pityriasis rubra pilaris [RCV001315007] Chr17:78155218..78172575 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.670G>A (p.Glu224Lys) single nucleotide variant Pityriasis rubra pilaris [RCV001351176] Chr17:80184233 [GRCh38]
Chr17:78158032 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1357-1G>A single nucleotide variant Pityriasis rubra pilaris [RCV001339563] Chr17:80195190 [GRCh38]
Chr17:78168989 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.130C>T (p.Arg44Cys) single nucleotide variant Pityriasis rubra pilaris [RCV001352100] Chr17:80181568 [GRCh38]
Chr17:78155367 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2938G>A (p.Gly980Ser) single nucleotide variant Inborn genetic diseases [RCV002541913]|Pityriasis rubra pilaris [RCV001300035] Chr17:80208268 [GRCh38]
Chr17:78182067 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2945T>A (p.Leu982His) single nucleotide variant Pityriasis rubra pilaris [RCV001306431] Chr17:80208275 [GRCh38]
Chr17:78182074 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2192C>T (p.Ala731Val) single nucleotide variant Pityriasis rubra pilaris [RCV001350667] Chr17:80202393 [GRCh38]
Chr17:78176192 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2924G>C (p.Trp975Ser) single nucleotide variant Pityriasis rubra pilaris [RCV001297199] Chr17:80208254 [GRCh38]
Chr17:78182053 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.777C>T (p.Ser259=) single nucleotide variant Pityriasis rubra pilaris [RCV001394611] Chr17:80188478 [GRCh38]
Chr17:78162277 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1044T>C (p.Asn348=) single nucleotide variant Pityriasis rubra pilaris [RCV001392517] Chr17:80190854 [GRCh38]
Chr17:78164653 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1358C>G (p.Ser453Cys) single nucleotide variant Pityriasis rubra pilaris [RCV001397664] Chr17:80195192 [GRCh38]
Chr17:78168991 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.428A>C (p.Lys143Thr) single nucleotide variant Pityriasis rubra pilaris [RCV001374150] Chr17:80183991 [GRCh38]
Chr17:78157790 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1840C>T (p.Gln614Ter) single nucleotide variant Pityriasis rubra pilaris [RCV001316546] Chr17:80198580 [GRCh38]
Chr17:78172379 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.652C>T (p.Arg218Cys) single nucleotide variant Pityriasis rubra pilaris [RCV001368807] Chr17:80184215 [GRCh38]
Chr17:78158014 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2692-8C>A single nucleotide variant Pityriasis rubra pilaris [RCV001370680] Chr17:80206962 [GRCh38]
Chr17:78180761 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.585G>A (p.Lys195=) single nucleotide variant Pityriasis rubra pilaris [RCV001414299] Chr17:80184148 [GRCh38]
Chr17:78157947 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2970C>T (p.Ala990=) single nucleotide variant Pityriasis rubra pilaris [RCV001392025] Chr17:80208300 [GRCh38]
Chr17:78182099 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2035T>C (p.Phe679Leu) single nucleotide variant Pityriasis rubra pilaris [RCV001373425] Chr17:80202236 [GRCh38]
Chr17:78176035 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1960G>C (p.Val654Leu) single nucleotide variant Pityriasis rubra pilaris [RCV001295023] Chr17:80201852 [GRCh38]
Chr17:78175651 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.676-9A>G single nucleotide variant Pityriasis rubra pilaris [RCV001433792] Chr17:80188368 [GRCh38]
Chr17:78162167 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2227C>G (p.Gln743Glu) single nucleotide variant Pityriasis rubra pilaris [RCV001361103] Chr17:80203829 [GRCh38]
Chr17:78177628 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2645G>A (p.Gly882Asp) single nucleotide variant Pityriasis rubra pilaris [RCV001343455] Chr17:80205606 [GRCh38]
Chr17:78179405 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2570-9C>G single nucleotide variant Pityriasis rubra pilaris [RCV001297813] Chr17:80205522 [GRCh38]
Chr17:78179321 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.3010C>T (p.Arg1004Ter) single nucleotide variant Pityriasis rubra pilaris [RCV001301496] Chr17:80208340 [GRCh38]
Chr17:78182139 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1705G>A (p.Val569Ile) single nucleotide variant Pityriasis rubra pilaris [RCV001371488] Chr17:80198445 [GRCh38]
Chr17:78172244 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1873C>T (p.Pro625Ser) single nucleotide variant Pityriasis rubra pilaris [RCV001312701] Chr17:80201765 [GRCh38]
Chr17:78175564 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1007G>A (p.Ser336Asn) single nucleotide variant Pityriasis rubra pilaris [RCV001324056] Chr17:80190817 [GRCh38]
Chr17:78164616 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2392dup (p.Met798fs) duplication Pityriasis rubra pilaris [RCV001365113] Chr17:80204334..80204335 [GRCh38]
Chr17:78178133..78178134 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1529C>T (p.Pro510Leu) single nucleotide variant Pityriasis rubra pilaris [RCV001345983] Chr17:80195587 [GRCh38]
Chr17:78169386 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2626G>C (p.Glu876Gln) single nucleotide variant Pityriasis rubra pilaris [RCV001344014] Chr17:80205587 [GRCh38]
Chr17:78179386 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2278C>T (p.Arg760Cys) single nucleotide variant Pityriasis rubra pilaris [RCV001360131] Chr17:80203880 [GRCh38]
Chr17:78177679 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1809G>A (p.Ala603=) single nucleotide variant Pityriasis rubra pilaris [RCV001324249] Chr17:80198549 [GRCh38]
Chr17:78172348 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.2226G>C (p.Gln742His) single nucleotide variant Pityriasis rubra pilaris [RCV001372380] Chr17:80203828 [GRCh38]
Chr17:78177627 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2219+4A>G single nucleotide variant Pityriasis rubra pilaris [RCV001342729] Chr17:80202424 [GRCh38]
Chr17:78176223 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.827C>T (p.Ser276Leu) single nucleotide variant Pityriasis rubra pilaris [RCV001347537] Chr17:80188528 [GRCh38]
Chr17:78162327 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2220-3C>T single nucleotide variant Pityriasis rubra pilaris [RCV001372731] Chr17:80203819 [GRCh38]
Chr17:78177618 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1178C>G (p.Thr393Arg) single nucleotide variant Pityriasis rubra pilaris [RCV001370203] Chr17:80191411 [GRCh38]
Chr17:78165210 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2963C>T (p.Ala988Val) single nucleotide variant Pityriasis rubra pilaris [RCV001324768] Chr17:80208293 [GRCh38]
Chr17:78182092 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.3006C>A (p.Ser1002Arg) single nucleotide variant Pityriasis rubra pilaris [RCV001342903] Chr17:80208336 [GRCh38]
Chr17:78182135 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1396G>A (p.Glu466Lys) single nucleotide variant CARD14-related condition [RCV003898331]|Pityriasis rubra pilaris [RCV001347705]|not provided [RCV003481086] Chr17:80195230 [GRCh38]
Chr17:78169029 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.676-4A>T single nucleotide variant Pityriasis rubra pilaris [RCV001318144] Chr17:80188373 [GRCh38]
Chr17:78162172 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.1340T>C (p.Leu447Pro) single nucleotide variant Pityriasis rubra pilaris [RCV001362237] Chr17:80192603 [GRCh38]
Chr17:78166402 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1673G>A (p.Arg558Gln) single nucleotide variant Inborn genetic diseases [RCV003346495]|Pityriasis rubra pilaris [RCV001341628] Chr17:80198413 [GRCh38]
Chr17:78172212 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1500-5T>G single nucleotide variant Pityriasis rubra pilaris [RCV001363924] Chr17:80195553 [GRCh38]
Chr17:78169352 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.884G>A (p.Arg295Gln) single nucleotide variant Pityriasis rubra pilaris [RCV001366098] Chr17:80189793 [GRCh38]
Chr17:78163592 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2419G>A (p.Ala807Thr) single nucleotide variant Pityriasis rubra pilaris [RCV001351763] Chr17:80205055 [GRCh38]
Chr17:78178854 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1659-1G>A single nucleotide variant Pityriasis rubra pilaris [RCV001371467] Chr17:80198398 [GRCh38]
Chr17:78172197 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1357-2A>C single nucleotide variant Pityriasis rubra pilaris [RCV001366723] Chr17:80195189 [GRCh38]
Chr17:78168988 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2354G>A (p.Arg785His) single nucleotide variant Inborn genetic diseases [RCV002550134]|Pityriasis rubra pilaris [RCV001371673] Chr17:80204297 [GRCh38]
Chr17:78178096 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.613T>A (p.Tyr205Asn) single nucleotide variant Pityriasis rubra pilaris [RCV001365578]|Psoriasis 2 [RCV002466667] Chr17:80184176 [GRCh38]
Chr17:78157975 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1660G>A (p.Gly554Ser) single nucleotide variant Inborn genetic diseases [RCV003264048]|Pityriasis rubra pilaris [RCV001865927]|not provided [RCV001507908] Chr17:80198400 [GRCh38]
Chr17:78172199 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.105C>G (p.Cys35Trp) single nucleotide variant Pityriasis rubra pilaris [RCV001365695] Chr17:80181543 [GRCh38]
Chr17:78155342 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1941C>T (p.Asp647=) single nucleotide variant Pityriasis rubra pilaris [RCV001413212] Chr17:80201833 [GRCh38]
Chr17:78175632 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1739T>C (p.Leu580Pro) single nucleotide variant Pityriasis rubra pilaris [RCV001359716] Chr17:80198479 [GRCh38]
Chr17:78172278 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1499+13G>A single nucleotide variant Pityriasis rubra pilaris [RCV001519421] Chr17:80195346 [GRCh38]
Chr17:78169145 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2112C>T (p.His704=) single nucleotide variant Pityriasis rubra pilaris [RCV001402092] Chr17:80202313 [GRCh38]
Chr17:78176112 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.936C>T (p.Ala312=) single nucleotide variant Pityriasis rubra pilaris [RCV001522583] Chr17:80189845 [GRCh38]
Chr17:78163644 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1998G>A (p.Gln666=) single nucleotide variant CARD14-related condition [RCV003931119]|Pityriasis rubra pilaris [RCV001520162] Chr17:80202199 [GRCh38]
Chr17:78175998 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.2889G>A (p.Ala963=) single nucleotide variant Pityriasis rubra pilaris [RCV001451632] Chr17:80208219 [GRCh38]
Chr17:78182018 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1395C>T (p.Arg465=) single nucleotide variant CARD14-related condition [RCV003966095]|Pityriasis rubra pilaris [RCV001516322] Chr17:80195229 [GRCh38]
Chr17:78169028 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.1179G>A (p.Thr393=) single nucleotide variant CARD14-related condition [RCV003948425]|Pityriasis rubra pilaris [RCV001487995] Chr17:80191412 [GRCh38]
Chr17:78165211 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1653G>T (p.Ser551=) single nucleotide variant Pityriasis rubra pilaris [RCV001492678] Chr17:80198157 [GRCh38]
Chr17:78171956 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2970C>A (p.Ala990=) single nucleotide variant Pityriasis rubra pilaris [RCV001476736] Chr17:80208300 [GRCh38]
Chr17:78182099 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.249C>T (p.Asn83=) single nucleotide variant Autoinflammatory syndrome [RCV002264343]|Pityriasis rubra pilaris [RCV001476846]|not provided [RCV003426134] Chr17:80182690 [GRCh38]
Chr17:78156489 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.2196C>T (p.His732=) single nucleotide variant Autoinflammatory syndrome [RCV002264357]|Pityriasis rubra pilaris [RCV001500109] Chr17:80202397 [GRCh38]
Chr17:78176196 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.2535G>A (p.Leu845=) single nucleotide variant Autoinflammatory syndrome [RCV002264341]|Pityriasis rubra pilaris [RCV001474276] Chr17:80205171 [GRCh38]
Chr17:78178970 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.588C>T (p.Asp196=) single nucleotide variant Pityriasis rubra pilaris [RCV001426141] Chr17:80184151 [GRCh38]
Chr17:78157950 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1499+27_1499+55del deletion Pityriasis rubra pilaris [RCV001489309] Chr17:80195339..80195367 [GRCh38]
Chr17:78169138..78169166 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2283+11A>C single nucleotide variant Pityriasis rubra pilaris [RCV001522575]|not provided [RCV001685418] Chr17:80203896 [GRCh38]
Chr17:78177695 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2569+8G>A single nucleotide variant Pityriasis rubra pilaris [RCV001493515] Chr17:80205213 [GRCh38]
Chr17:78179012 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1188C>G (p.Val396=) single nucleotide variant Autoinflammatory syndrome [RCV002264354]|CARD14-related condition [RCV003399256]|Pityriasis rubra pilaris [RCV001493604] Chr17:80191421 [GRCh38]
Chr17:78165220 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.1851+8G>A single nucleotide variant Pityriasis rubra pilaris [RCV001404663] Chr17:80198599 [GRCh38]
Chr17:78172398 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1356+9G>A single nucleotide variant Pityriasis rubra pilaris [RCV001448911] Chr17:80192628 [GRCh38]
Chr17:78166427 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1098C>T (p.Ser366=) single nucleotide variant Autoinflammatory syndrome [RCV002264323]|Pityriasis rubra pilaris [RCV001448889] Chr17:80191331 [GRCh38]
Chr17:78165130 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.861G>A (p.Leu287=) single nucleotide variant Pityriasis rubra pilaris [RCV001446371] Chr17:80189770 [GRCh38]
Chr17:78163569 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2424G>A (p.Glu808=) single nucleotide variant Pityriasis rubra pilaris [RCV001407392] Chr17:80205060 [GRCh38]
Chr17:78178859 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1824C>T (p.Ala608=) single nucleotide variant Pityriasis rubra pilaris [RCV001423420] Chr17:80198564 [GRCh38]
Chr17:78172363 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2319C>T (p.Ile773=) single nucleotide variant Pityriasis rubra pilaris [RCV001444113] Chr17:80204262 [GRCh38]
Chr17:78178061 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1851+10G>A single nucleotide variant Pityriasis rubra pilaris [RCV001405362] Chr17:80198601 [GRCh38]
Chr17:78172400 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1974G>A (p.Thr658=) single nucleotide variant Pityriasis rubra pilaris [RCV001405115] Chr17:80201866 [GRCh38]
Chr17:78175665 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2694C>T (p.Asn898=) single nucleotide variant Pityriasis rubra pilaris [RCV001425305] Chr17:80206972 [GRCh38]
Chr17:78180771 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1530G>A (p.Pro510=) single nucleotide variant Autoinflammatory syndrome [RCV002264312]|Pityriasis rubra pilaris [RCV001426943] Chr17:80195588 [GRCh38]
Chr17:78169387 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.489C>T (p.Ala163=) single nucleotide variant Pityriasis rubra pilaris [RCV001410924] Chr17:80184052 [GRCh38]
Chr17:78157851 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.746A>C (p.Gln249Pro) single nucleotide variant Pityriasis rubra pilaris [RCV001401480] Chr17:80188447 [GRCh38]
Chr17:78162246 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1860C>T (p.Tyr620=) single nucleotide variant Pityriasis rubra pilaris [RCV001411464]|not provided [RCV003426084] Chr17:80201752 [GRCh38]
Chr17:78175551 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2544C>T (p.Leu848=) single nucleotide variant Pityriasis rubra pilaris [RCV001448081] Chr17:80205180 [GRCh38]
Chr17:78178979 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2457G>A (p.Val819=) single nucleotide variant Pityriasis rubra pilaris [RCV001398852] Chr17:80205093 [GRCh38]
Chr17:78178892 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1015G>T (p.Ala339Ser) single nucleotide variant not provided [RCV001507906] Chr17:80190825 [GRCh38]
Chr17:78164624 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1601C>T (p.Pro534Leu) single nucleotide variant Pityriasis rubra pilaris [RCV003771549]|not provided [RCV001507907] Chr17:80198105 [GRCh38]
Chr17:78171904 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.*231T>G single nucleotide variant not provided [RCV001688359] Chr17:80208576 [GRCh38]
Chr17:78182375 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2307G>A (p.Lys769=) single nucleotide variant Pityriasis rubra pilaris [RCV001485981] Chr17:80204250 [GRCh38]
Chr17:78178049 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.694G>A (p.Glu232Lys) single nucleotide variant Autoinflammatory syndrome [RCV002264346]|Pityriasis rubra pilaris [RCV001479124] Chr17:80188395 [GRCh38]
Chr17:78162194 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.931C>T (p.Arg311Trp) single nucleotide variant Autoinflammatory syndrome [RCV002264325]|Pityriasis rubra pilaris [RCV001451159] Chr17:80189840 [GRCh38]
Chr17:78163639 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.921G>A (p.Ser307=) single nucleotide variant Autoinflammatory syndrome [RCV002264358]|Pityriasis rubra pilaris [RCV001502903] Chr17:80189830 [GRCh38]
Chr17:78163629 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.577A>C (p.Arg193=) single nucleotide variant Pityriasis rubra pilaris [RCV001506475] Chr17:80184140 [GRCh38]
Chr17:78157939 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1518G>A (p.Pro506=) single nucleotide variant CARD14-related condition [RCV003956129]|Pityriasis rubra pilaris [RCV001510377]|not provided [RCV003426166] Chr17:80195576 [GRCh38]
Chr17:78169375 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.1797C>A (p.Thr599=) single nucleotide variant Pityriasis rubra pilaris [RCV001515994] Chr17:80198537 [GRCh38]
Chr17:78172336 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.843+16C>T single nucleotide variant Pityriasis rubra pilaris [RCV001509936] Chr17:80188560 [GRCh38]
Chr17:78162359 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.964-145del deletion not provided [RCV001651558] Chr17:80190613 [GRCh38]
Chr17:78164412 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2421C>T (p.Ala807=) single nucleotide variant Pityriasis rubra pilaris [RCV001503188]|not provided [RCV003426162] Chr17:80205057 [GRCh38]
Chr17:78178856 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.964-146A>G single nucleotide variant not provided [RCV001675509] Chr17:80190628 [GRCh38]
Chr17:78164427 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2692-182A>G single nucleotide variant not provided [RCV001653247] Chr17:80206788 [GRCh38]
Chr17:78180587 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.349+322C>T single nucleotide variant not provided [RCV001590834] Chr17:80183112 [GRCh38]
Chr17:78156911 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1851+16C>T single nucleotide variant Pityriasis rubra pilaris [RCV001511664] Chr17:80198607 [GRCh38]
Chr17:78172406 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1979-15G>A single nucleotide variant Pityriasis rubra pilaris [RCV001511667] Chr17:80202165 [GRCh38]
Chr17:78175964 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.*288G>A single nucleotide variant not provided [RCV001691588] Chr17:80208633 [GRCh38]
Chr17:78182432 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.675+280C>T single nucleotide variant not provided [RCV001671753] Chr17:80184518 [GRCh38]
Chr17:78158317 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2190C>T (p.Ala730=) single nucleotide variant Autoinflammatory syndrome [RCV002264336]|Pityriasis rubra pilaris [RCV001459968] Chr17:80202391 [GRCh38]
Chr17:78176190 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.824G>A (p.Arg275His) single nucleotide variant Pityriasis rubra pilaris [RCV001488502] Chr17:80188525 [GRCh38]
Chr17:78162324 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2019G>A (p.Ala673=) single nucleotide variant Autoinflammatory syndrome [RCV002264334]|Pityriasis rubra pilaris [RCV001456168] Chr17:80202220 [GRCh38]
Chr17:78176019 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.2807+248T>C single nucleotide variant not provided [RCV001672281] Chr17:80207333 [GRCh38]
Chr17:78181132 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.676-5C>T single nucleotide variant Pityriasis rubra pilaris [RCV001505613] Chr17:80188372 [GRCh38]
Chr17:78162171 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.258C>T (p.Ile86=) single nucleotide variant Pityriasis rubra pilaris [RCV001401624] Chr17:80182699 [GRCh38]
Chr17:78156498 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2352G>A (p.Leu784=) single nucleotide variant Pityriasis rubra pilaris [RCV001506001] Chr17:80204295 [GRCh38]
Chr17:78178094 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1929C>G (p.Leu643=) single nucleotide variant Pityriasis rubra pilaris [RCV001450409] Chr17:80201821 [GRCh38]
Chr17:78175620 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1852-8G>A single nucleotide variant Autoinflammatory syndrome [RCV002264363]|Pityriasis rubra pilaris [RCV001509638] Chr17:80201736 [GRCh38]
Chr17:78175535 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.843+10G>A single nucleotide variant Pityriasis rubra pilaris [RCV001520588] Chr17:80188554 [GRCh38]
Chr17:78162353 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1323C>T (p.Asp441=) single nucleotide variant Pityriasis rubra pilaris [RCV001516550]|not provided [RCV001619920] Chr17:80192586 [GRCh38]
Chr17:78166385 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1753G>A (p.Val585Ile) single nucleotide variant Pityriasis rubra pilaris [RCV001516551]|Pityriasis rubra pilaris [RCV003326151]|not provided [RCV001673093]|not specified [RCV003399296] Chr17:80198493 [GRCh38]
Chr17:78172292 [GRCh37]
Chr17:17q25.3
association|benign
NM_001366385.1(CARD14):c.2481C>T (p.Pro827=) single nucleotide variant Pityriasis rubra pilaris [RCV001516554]|not provided [RCV001712925]|not specified [RCV003399297] Chr17:80205117 [GRCh38]
Chr17:78178916 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.922C>T (p.Leu308=) single nucleotide variant Autoinflammatory syndrome [RCV002264364]|Pityriasis rubra pilaris [RCV001510173]|not provided [RCV003883683] Chr17:80189831 [GRCh38]
Chr17:78163630 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001366385.1(CARD14):c.1971C>T (p.Asn657=) single nucleotide variant Pityriasis rubra pilaris [RCV001469486] Chr17:80201863 [GRCh38]
Chr17:78175662 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2937C>T (p.Asp979=) single nucleotide variant Pityriasis rubra pilaris [RCV001471167] Chr17:80208267 [GRCh38]
Chr17:78182066 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2640C>T (p.Ser880=) single nucleotide variant Pityriasis rubra pilaris [RCV001431858] Chr17:80205601 [GRCh38]
Chr17:78179400 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2949C>T (p.Ser983=) single nucleotide variant Pityriasis rubra pilaris [RCV001498221] Chr17:80208279 [GRCh38]
Chr17:78182078 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1542G>A (p.Pro514=) single nucleotide variant Pityriasis rubra pilaris [RCV001406435] Chr17:80195600 [GRCh38]
Chr17:78169399 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2570-4G>A single nucleotide variant Pityriasis rubra pilaris [RCV001443067] Chr17:80205527 [GRCh38]
Chr17:78179326 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1090-10T>C single nucleotide variant Pityriasis rubra pilaris [RCV001517017] Chr17:80191313 [GRCh38]
Chr17:78165112 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2421C>G (p.Ala807=) single nucleotide variant Pityriasis rubra pilaris [RCV001484964] Chr17:80205057 [GRCh38]
Chr17:78178856 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1430C>T (p.Ala477Val) single nucleotide variant Pityriasis rubra pilaris [RCV001514326] Chr17:80195264 [GRCh38]
Chr17:78169063 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1341C>T (p.Leu447=) single nucleotide variant Pityriasis rubra pilaris [RCV001427601] Chr17:80192604 [GRCh38]
Chr17:78166403 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1594+9G>A single nucleotide variant CARD14-related condition [RCV003946119]|Pityriasis rubra pilaris [RCV001427452] Chr17:80195661 [GRCh38]
Chr17:78169460 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.676-10C>G single nucleotide variant Pityriasis rubra pilaris [RCV001454478] Chr17:80188367 [GRCh38]
Chr17:78162166 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1852-16C>T single nucleotide variant Pityriasis rubra pilaris [RCV001517633] Chr17:80201728 [GRCh38]
Chr17:78175527 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.964-3del deletion Pityriasis rubra pilaris [RCV001483802] Chr17:80190770 [GRCh38]
Chr17:78164569 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2219+14T>G single nucleotide variant CARD14-related condition [RCV003921082]|Pityriasis rubra pilaris [RCV001511914]|not provided [RCV001619911] Chr17:80202434 [GRCh38]
Chr17:78176233 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1371G>C (p.Ser457=) single nucleotide variant CARD14-related condition [RCV003963280]|Pityriasis rubra pilaris [RCV001402350] Chr17:80195205 [GRCh38]
Chr17:78169004 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2808-19C>A single nucleotide variant Pityriasis rubra pilaris [RCV001522262]|Pityriasis rubra pilaris [RCV003326152]|not provided [RCV001685415]|not specified [RCV003399316] Chr17:80208119 [GRCh38]
Chr17:78181918 [GRCh37]
Chr17:17q25.3
benign|uncertain significance
NM_001366385.1(CARD14):c.3003G>C (p.Gln1001His) single nucleotide variant Pityriasis rubra pilaris [RCV003108541] Chr17:80208333 [GRCh38]
Chr17:78182132 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1703A>C (p.Gln568Pro) single nucleotide variant not provided [RCV001725914] Chr17:80198443 [GRCh38]
Chr17:78172242 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1986G>A (p.Lys662=) single nucleotide variant Pityriasis rubra pilaris [RCV002085704] Chr17:80202187 [GRCh38]
Chr17:78175986 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.862G>C (p.Glu288Gln) single nucleotide variant Pityriasis rubra pilaris [RCV003104906] Chr17:80189771 [GRCh38]
Chr17:78163570 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2806A>G (p.Lys936Glu) single nucleotide variant not provided [RCV001774080] Chr17:80207084 [GRCh38]
Chr17:78180883 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2726G>A (p.Ser909Asn) single nucleotide variant Pityriasis rubra pilaris [RCV003771928]|not provided [RCV001752087] Chr17:80207004 [GRCh38]
Chr17:78180803 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2725A>G (p.Ser909Gly) single nucleotide variant Pityriasis rubra pilaris [RCV001863587] Chr17:80207003 [GRCh38]
Chr17:78180802 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.90del (p.Ile30fs) deletion Pityriasis rubra pilaris [RCV001914614] Chr17:80181528 [GRCh38]
Chr17:78155327 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1023A>T (p.Gln341His) single nucleotide variant Pityriasis rubra pilaris [RCV001864282] Chr17:80190833 [GRCh38]
Chr17:78164632 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2684T>C (p.Met895Thr) single nucleotide variant Pityriasis rubra pilaris [RCV001874112] Chr17:80205645 [GRCh38]
Chr17:78179444 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.920C>T (p.Ser307Leu) single nucleotide variant Pityriasis rubra pilaris [RCV001988671] Chr17:80189829 [GRCh38]
Chr17:78163628 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2210A>G (p.Asn737Ser) single nucleotide variant Inborn genetic diseases [RCV002545549]|Pityriasis rubra pilaris [RCV002040614] Chr17:80202411 [GRCh38]
Chr17:78176210 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.805G>A (p.Glu269Lys) single nucleotide variant Pityriasis rubra pilaris [RCV001967944] Chr17:80188506 [GRCh38]
Chr17:78162305 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78010462)_(78158057_?)dup duplication Pityriasis rubra pilaris [RCV001984545] Chr17:78010462..78158057 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.259G>A (p.Ala87Thr) single nucleotide variant Pityriasis rubra pilaris [RCV001893183] Chr17:80182700 [GRCh38]
Chr17:78156499 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1700G>A (p.Ser567Asn) single nucleotide variant Pityriasis rubra pilaris [RCV001863626] Chr17:80198440 [GRCh38]
Chr17:78172239 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2800A>C (p.Lys934Gln) single nucleotide variant Pityriasis rubra pilaris [RCV002045378] Chr17:80207078 [GRCh38]
Chr17:78180877 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.250G>C (p.Gly84Arg) single nucleotide variant Pityriasis rubra pilaris [RCV002008990] Chr17:80182691 [GRCh38]
Chr17:78156490 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2821_2827del (p.Arg941fs) deletion Pityriasis rubra pilaris [RCV001950455] Chr17:80208150..80208156 [GRCh38]
Chr17:78181949..78181955 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.605C>T (p.Ser202Leu) single nucleotide variant Pityriasis rubra pilaris [RCV001874984] Chr17:80184168 [GRCh38]
Chr17:78157967 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1936del (p.Val646fs) deletion Pityriasis rubra pilaris [RCV002044519] Chr17:80201826 [GRCh38]
Chr17:78175625 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2884C>T (p.Arg962Trp) single nucleotide variant Autoinflammatory syndrome [RCV002264398]|CARD14-related condition [RCV003911050]|Inborn genetic diseases [RCV003346707]|Pityriasis rubra pilaris [RCV002041722] Chr17:80208214 [GRCh38]
Chr17:78182013 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1909G>A (p.Glu637Lys) single nucleotide variant Pityriasis rubra pilaris [RCV001873866] Chr17:80201801 [GRCh38]
Chr17:78175600 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1082G>T (p.Arg361Leu) single nucleotide variant Pityriasis rubra pilaris [RCV001909425] Chr17:80190892 [GRCh38]
Chr17:78164691 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1660G>C (p.Gly554Arg) single nucleotide variant Pityriasis rubra pilaris [RCV002041652] Chr17:80198400 [GRCh38]
Chr17:78172199 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1939G>C (p.Asp647His) single nucleotide variant Pityriasis rubra pilaris [RCV001986045] Chr17:80201831 [GRCh38]
Chr17:78175630 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.973G>C (p.Glu325Gln) single nucleotide variant Pityriasis rubra pilaris [RCV001966376] Chr17:80190783 [GRCh38]
Chr17:78164582 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.710A>G (p.Asn237Ser) single nucleotide variant Pityriasis rubra pilaris [RCV002006553] Chr17:80188411 [GRCh38]
Chr17:78162210 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2101G>A (p.Glu701Lys) single nucleotide variant Pityriasis rubra pilaris [RCV002005545] Chr17:80202302 [GRCh38]
Chr17:78176101 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2158C>T (p.Arg720Cys) single nucleotide variant Pityriasis rubra pilaris [RCV001893155] Chr17:80202359 [GRCh38]
Chr17:78176158 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78168970)_(78182144_?)dup duplication Pityriasis rubra pilaris [RCV002004485] Chr17:78168970..78182144 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.379T>A (p.Cys127Ser) single nucleotide variant Pityriasis rubra pilaris [RCV001965704] Chr17:80183942 [GRCh38]
Chr17:78157741 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.3(chr17:77641336-79465235) copy number gain not specified [RCV002052607] Chr17:77641336..79465235 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1593A>G (p.Ala531=) single nucleotide variant Pityriasis rubra pilaris [RCV001947487] Chr17:80195651 [GRCh38]
Chr17:78169450 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1099G>A (p.Ala367Thr) single nucleotide variant Pityriasis rubra pilaris [RCV001926998] Chr17:80191332 [GRCh38]
Chr17:78165131 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.173T>C (p.Leu58Pro) single nucleotide variant Pityriasis rubra pilaris [RCV001863347] Chr17:80181611 [GRCh38]
Chr17:78155410 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2983A>G (p.Lys995Glu) single nucleotide variant Pityriasis rubra pilaris [RCV002041798] Chr17:80208313 [GRCh38]
Chr17:78182112 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1687C>T (p.Arg563Cys) single nucleotide variant Pityriasis rubra pilaris [RCV001964603] Chr17:80198427 [GRCh38]
Chr17:78172226 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.845C>T (p.Ala282Val) single nucleotide variant Pityriasis rubra pilaris [RCV001948057] Chr17:80189754 [GRCh38]
Chr17:78163553 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2388C>A (p.Ser796Arg) single nucleotide variant Pityriasis rubra pilaris [RCV001912200] Chr17:80204331 [GRCh38]
Chr17:78178130 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1089+5C>G single nucleotide variant Pityriasis rubra pilaris [RCV001895450] Chr17:80190904 [GRCh38]
Chr17:78164703 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.529C>A (p.His177Asn) single nucleotide variant Pityriasis rubra pilaris [RCV001892164] Chr17:80184092 [GRCh38]
Chr17:78157891 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.233A>C (p.Lys78Thr) single nucleotide variant Pityriasis rubra pilaris [RCV002024236] Chr17:80182674 [GRCh38]
Chr17:78156473 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1811C>T (p.Ala604Val) single nucleotide variant Pityriasis rubra pilaris [RCV001927543] Chr17:80198551 [GRCh38]
Chr17:78172350 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.623C>T (p.Ala208Val) single nucleotide variant Pityriasis rubra pilaris [RCV001984315] Chr17:80184186 [GRCh38]
Chr17:78157985 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1658+5G>A single nucleotide variant Pityriasis rubra pilaris [RCV001927815] Chr17:80198167 [GRCh38]
Chr17:78171966 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2972A>G (p.Asp991Gly) single nucleotide variant Pityriasis rubra pilaris [RCV002042861] Chr17:80208302 [GRCh38]
Chr17:78182101 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1171G>A (p.Glu391Lys) single nucleotide variant Pityriasis rubra pilaris [RCV001927130] Chr17:80191404 [GRCh38]
Chr17:78165203 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1523G>A (p.Gly508Glu) single nucleotide variant Pityriasis rubra pilaris [RCV001911017] Chr17:80195581 [GRCh38]
Chr17:78169380 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.970G>A (p.Glu324Lys) single nucleotide variant Pityriasis rubra pilaris [RCV002020448] Chr17:80190780 [GRCh38]
Chr17:78164579 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.675+1G>A single nucleotide variant Pityriasis rubra pilaris [RCV001891411] Chr17:80184239 [GRCh38]
Chr17:78158038 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.95G>A (p.Arg32His) single nucleotide variant Pityriasis rubra pilaris [RCV001983789] Chr17:80181533 [GRCh38]
Chr17:78155332 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2764G>A (p.Val922Ile) single nucleotide variant Pityriasis rubra pilaris [RCV001933682]|not provided [RCV003481195] Chr17:80207042 [GRCh38]
Chr17:78180841 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2819A>G (p.Gln940Arg) single nucleotide variant Pityriasis rubra pilaris [RCV001923666] Chr17:80208149 [GRCh38]
Chr17:78181948 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2599T>A (p.Trp867Arg) single nucleotide variant Pityriasis rubra pilaris [RCV002049445] Chr17:80205560 [GRCh38]
Chr17:78179359 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2894G>C (p.Cys965Ser) single nucleotide variant Pityriasis rubra pilaris [RCV001944605] Chr17:80208224 [GRCh38]
Chr17:78182023 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2399-3C>T single nucleotide variant Pityriasis rubra pilaris [RCV001905893] Chr17:80205032 [GRCh38]
Chr17:78178831 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2455G>A (p.Val819Met) single nucleotide variant Pityriasis rubra pilaris [RCV001961975] Chr17:80205091 [GRCh38]
Chr17:78178890 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2172C>A (p.Tyr724Ter) single nucleotide variant Pityriasis rubra pilaris [RCV001943247] Chr17:80202373 [GRCh38]
Chr17:78176172 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.940del (p.Ala314fs) deletion Pityriasis rubra pilaris [RCV001879141] Chr17:80189848 [GRCh38]
Chr17:78163647 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78032273)_(78163691_?)dup duplication Pityriasis rubra pilaris [RCV001923218] Chr17:78032273..78163691 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2591A>G (p.Tyr864Cys) single nucleotide variant Autoinflammatory syndrome [RCV002264411]|Pityriasis rubra pilaris [RCV001883213] Chr17:80205552 [GRCh38]
Chr17:78179351 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2201C>T (p.Thr734Ile) single nucleotide variant Pityriasis rubra pilaris [RCV001974420] Chr17:80202402 [GRCh38]
Chr17:78176201 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1156C>T (p.Arg386Cys) single nucleotide variant Inborn genetic diseases [RCV002560735]|Pityriasis rubra pilaris [RCV001959760] Chr17:80191389 [GRCh38]
Chr17:78165188 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.659G>T (p.Arg220Leu) single nucleotide variant Pityriasis rubra pilaris [RCV001921402] Chr17:80184222 [GRCh38]
Chr17:78158021 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1851+11C>T single nucleotide variant Pityriasis rubra pilaris [RCV001883556] Chr17:80198602 [GRCh38]
Chr17:78172401 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.1861G>A (p.Glu621Lys) single nucleotide variant Pityriasis rubra pilaris [RCV001923214] Chr17:80201753 [GRCh38]
Chr17:78175552 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2836G>C (p.Glu946Gln) single nucleotide variant Pityriasis rubra pilaris [RCV002037989] Chr17:80208166 [GRCh38]
Chr17:78181965 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.766G>A (p.Asp256Asn) single nucleotide variant Inborn genetic diseases [RCV002557879]|Pityriasis rubra pilaris [RCV001943706] Chr17:80188467 [GRCh38]
Chr17:78162266 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1313G>A (p.Cys438Tyr) single nucleotide variant Pityriasis rubra pilaris [RCV001922321] Chr17:80192576 [GRCh38]
Chr17:78166375 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.646G>A (p.Ala216Thr) single nucleotide variant Autoinflammatory syndrome [RCV002264433]|Pityriasis rubra pilaris [RCV001979111]|not provided [RCV002264432] Chr17:80184209 [GRCh38]
Chr17:78158008 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.497G>A (p.Arg166His) single nucleotide variant Pityriasis rubra pilaris [RCV002011673] Chr17:80184060 [GRCh38]
Chr17:78157859 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.911G>A (p.Arg304His) single nucleotide variant Inborn genetic diseases [RCV003355767]|Pityriasis rubra pilaris [RCV002016215] Chr17:80189820 [GRCh38]
Chr17:78163619 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2971G>A (p.Asp991Asn) single nucleotide variant Pityriasis rubra pilaris [RCV001955879] Chr17:80208301 [GRCh38]
Chr17:78182100 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2674G>C (p.Glu892Gln) single nucleotide variant Inborn genetic diseases [RCV003303338]|Pityriasis rubra pilaris [RCV001917972] Chr17:80205635 [GRCh38]
Chr17:78179434 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1346G>A (p.Ser449Asn) single nucleotide variant Pityriasis rubra pilaris [RCV001953193] Chr17:80192609 [GRCh38]
Chr17:78166408 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.910C>G (p.Arg304Gly) single nucleotide variant Pityriasis rubra pilaris [RCV002013295] Chr17:80189819 [GRCh38]
Chr17:78163618 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2317A>T (p.Ile773Phe) single nucleotide variant Pityriasis rubra pilaris [RCV001875185] Chr17:80204260 [GRCh38]
Chr17:78178059 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1631C>T (p.Ser544Phe) single nucleotide variant Pityriasis rubra pilaris [RCV001957218] Chr17:80198135 [GRCh38]
Chr17:78171934 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1157G>A (p.Arg386His) single nucleotide variant Pityriasis rubra pilaris [RCV001930285] Chr17:80191390 [GRCh38]
Chr17:78165189 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2691+14C>T single nucleotide variant Pityriasis rubra pilaris [RCV002026179] Chr17:80205666 [GRCh38]
Chr17:78179465 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.1659-9G>A single nucleotide variant Pityriasis rubra pilaris [RCV001977091] Chr17:80198390 [GRCh38]
Chr17:78172189 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2204T>G (p.Ile735Ser) single nucleotide variant Pityriasis rubra pilaris [RCV001919755] Chr17:80202405 [GRCh38]
Chr17:78176204 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2194C>T (p.His732Tyr) single nucleotide variant Pityriasis rubra pilaris [RCV001902811] Chr17:80202395 [GRCh38]
Chr17:78176194 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1966G>A (p.Val656Ile) single nucleotide variant Pityriasis rubra pilaris [RCV001922808] Chr17:80201858 [GRCh38]
Chr17:78175657 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2161G>A (p.Val721Met) single nucleotide variant Pityriasis rubra pilaris [RCV001990663] Chr17:80202362 [GRCh38]
Chr17:78176161 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.160G>A (p.Glu54Lys) single nucleotide variant Pityriasis rubra pilaris [RCV002026553] Chr17:80181598 [GRCh38]
Chr17:78155397 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2927G>A (p.Ser976Asn) single nucleotide variant Pityriasis rubra pilaris [RCV001898920] Chr17:80208257 [GRCh38]
Chr17:78182056 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2384C>T (p.Pro795Leu) single nucleotide variant Pityriasis rubra pilaris [RCV001920280] Chr17:80204327 [GRCh38]
Chr17:78178126 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1012A>G (p.Met338Val) single nucleotide variant Autoinflammatory syndrome [RCV002264440]|CARD14-related condition [RCV003948855]|Pityriasis rubra pilaris [RCV001998189] Chr17:80190822 [GRCh38]
Chr17:78164621 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.211G>A (p.Gly71Arg) single nucleotide variant Pityriasis rubra pilaris [RCV001960338] Chr17:80181649 [GRCh38]
Chr17:78155448 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.769C>T (p.Gln257Ter) single nucleotide variant Pityriasis rubra pilaris [RCV001898046] Chr17:80188470 [GRCh38]
Chr17:78162269 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2778dup (p.Val927fs) duplication Pityriasis rubra pilaris [RCV001937115] Chr17:80207055..80207056 [GRCh38]
Chr17:78180854..78180855 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2785G>A (p.Glu929Lys) single nucleotide variant Pityriasis rubra pilaris [RCV001959814] Chr17:80207063 [GRCh38]
Chr17:78180862 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.91G>A (p.Val31Ile) single nucleotide variant Pityriasis rubra pilaris [RCV001978845] Chr17:80181529 [GRCh38]
Chr17:78155328 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2807+10C>G single nucleotide variant CARD14-related condition [RCV003941230]|Pityriasis rubra pilaris [RCV001961046] Chr17:80207095 [GRCh38]
Chr17:78180894 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.963+5C>T single nucleotide variant Autoinflammatory syndrome [RCV002264441]|Pityriasis rubra pilaris [RCV001994077] Chr17:80189877 [GRCh38]
Chr17:78163676 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.86G>A (p.Arg29Lys) single nucleotide variant Pityriasis rubra pilaris [RCV001905972] Chr17:80181524 [GRCh38]
Chr17:78155323 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.159C>G (p.Asp53Glu) single nucleotide variant Pityriasis rubra pilaris [RCV001919577] Chr17:80181597 [GRCh38]
Chr17:78155396 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.734A>G (p.Glu245Gly) single nucleotide variant Pityriasis rubra pilaris [RCV001981412] Chr17:80188435 [GRCh38]
Chr17:78162234 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.376G>C (p.Glu126Gln) single nucleotide variant Pityriasis rubra pilaris [RCV001884666] Chr17:80183939 [GRCh38]
Chr17:78157738 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2432T>C (p.Leu811Pro) single nucleotide variant Pityriasis rubra pilaris [RCV001997962] Chr17:80205068 [GRCh38]
Chr17:78178867 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1027T>C (p.Tyr343His) single nucleotide variant Pityriasis rubra pilaris [RCV001972169] Chr17:80190837 [GRCh38]
Chr17:78164636 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1997A>G (p.Gln666Arg) single nucleotide variant Pityriasis rubra pilaris [RCV002011180] Chr17:80202198 [GRCh38]
Chr17:78175997 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1923G>C (p.Gly641=) single nucleotide variant Pityriasis rubra pilaris [RCV001956446] Chr17:80201815 [GRCh38]
Chr17:78175614 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2947A>G (p.Ser983Gly) single nucleotide variant Pityriasis rubra pilaris [RCV001938277] Chr17:80208277 [GRCh38]
Chr17:78182076 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2561G>A (p.Cys854Tyr) single nucleotide variant Pityriasis rubra pilaris [RCV001997470] Chr17:80205197 [GRCh38]
Chr17:78178996 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2398+3G>A single nucleotide variant Pityriasis rubra pilaris [RCV001905126] Chr17:80204344 [GRCh38]
Chr17:78178143 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2119G>A (p.Asp707Asn) single nucleotide variant Pityriasis rubra pilaris [RCV001906952] Chr17:80202320 [GRCh38]
Chr17:78176119 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2830A>G (p.Thr944Ala) single nucleotide variant Pityriasis rubra pilaris [RCV001906167] Chr17:80208160 [GRCh38]
Chr17:78181959 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1832C>T (p.Pro611Leu) single nucleotide variant Pityriasis rubra pilaris [RCV001981819] Chr17:80198572 [GRCh38]
Chr17:78172371 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1829G>C (p.Arg610Pro) single nucleotide variant Pityriasis rubra pilaris [RCV002036646] Chr17:80198569 [GRCh38]
Chr17:78172368 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1393C>T (p.Arg465Cys) single nucleotide variant Pityriasis rubra pilaris [RCV001940716] Chr17:80195227 [GRCh38]
Chr17:78169026 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2357T>C (p.Leu786Ser) single nucleotide variant Pityriasis rubra pilaris [RCV001960132] Chr17:80204300 [GRCh38]
Chr17:78178099 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1206G>T (p.Gln402His) single nucleotide variant Pityriasis rubra pilaris [RCV001930201] Chr17:80191439 [GRCh38]
Chr17:78165238 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.239G>A (p.Arg80Gln) single nucleotide variant Pityriasis rubra pilaris [RCV002048679] Chr17:80182680 [GRCh38]
Chr17:78156479 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1380T>A (p.Ser460Arg) single nucleotide variant Pityriasis rubra pilaris [RCV001864817] Chr17:80195214 [GRCh38]
Chr17:78169013 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1805C>G (p.Ser602Trp) single nucleotide variant Pityriasis rubra pilaris [RCV002014173] Chr17:80198545 [GRCh38]
Chr17:78172344 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1741G>C (p.Glu581Gln) single nucleotide variant Pityriasis rubra pilaris [RCV001937118] Chr17:80198481 [GRCh38]
Chr17:78172280 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2408C>T (p.Thr803Met) single nucleotide variant Pityriasis rubra pilaris [RCV001933297] Chr17:80205044 [GRCh38]
Chr17:78178843 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2928C>A (p.Ser976Arg) single nucleotide variant Pityriasis rubra pilaris [RCV001989141] Chr17:80208258 [GRCh38]
Chr17:78182057 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2826G>C (p.Leu942Phe) single nucleotide variant Pityriasis rubra pilaris [RCV002047150] Chr17:80208156 [GRCh38]
Chr17:78181955 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2376G>T (p.Gln792His) single nucleotide variant Pityriasis rubra pilaris [RCV002048059] Chr17:80204319 [GRCh38]
Chr17:78178118 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2569+2T>A single nucleotide variant Pityriasis rubra pilaris [RCV002029009] Chr17:80205207 [GRCh38]
Chr17:78179006 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1227G>A (p.Glu409=) single nucleotide variant Pityriasis rubra pilaris [RCV002109794] Chr17:80191460 [GRCh38]
Chr17:78165259 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1659-16G>A single nucleotide variant Pityriasis rubra pilaris [RCV002085655] Chr17:80198383 [GRCh38]
Chr17:78172182 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2118C>T (p.Thr706=) single nucleotide variant Pityriasis rubra pilaris [RCV002075477] Chr17:80202319 [GRCh38]
Chr17:78176118 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1979-13C>A single nucleotide variant Pityriasis rubra pilaris [RCV002087414] Chr17:80202167 [GRCh38]
Chr17:78175966 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2692-19T>C single nucleotide variant Pityriasis rubra pilaris [RCV002084589] Chr17:80206951 [GRCh38]
Chr17:78180750 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1851+8G>C single nucleotide variant Pityriasis rubra pilaris [RCV002092422] Chr17:80198599 [GRCh38]
Chr17:78172398 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1356+17C>T single nucleotide variant Pityriasis rubra pilaris [RCV002188147] Chr17:80192636 [GRCh38]
Chr17:78166435 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.675+9A>C single nucleotide variant Pityriasis rubra pilaris [RCV002130725] Chr17:80184247 [GRCh38]
Chr17:78158046 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.676-17G>A single nucleotide variant Pityriasis rubra pilaris [RCV002164931] Chr17:80188360 [GRCh38]
Chr17:78162159 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1090-12C>G single nucleotide variant Pityriasis rubra pilaris [RCV002167968] Chr17:80191311 [GRCh38]
Chr17:78165110 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2784C>T (p.Asn928=) single nucleotide variant Pityriasis rubra pilaris [RCV002169804] Chr17:80207062 [GRCh38]
Chr17:78180861 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.843+17G>A single nucleotide variant Pityriasis rubra pilaris [RCV002209878] Chr17:80188561 [GRCh38]
Chr17:78162360 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2692-17C>T single nucleotide variant Pityriasis rubra pilaris [RCV002207855] Chr17:80206953 [GRCh38]
Chr17:78180752 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.675+8G>A single nucleotide variant CARD14-related condition [RCV003951224]|Pityriasis rubra pilaris [RCV002125988] Chr17:80184246 [GRCh38]
Chr17:78158045 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2808-18C>G single nucleotide variant Pityriasis rubra pilaris [RCV002091780] Chr17:80208120 [GRCh38]
Chr17:78181919 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.720C>T (p.Ser240=) single nucleotide variant Pityriasis rubra pilaris [RCV002148310] Chr17:80188421 [GRCh38]
Chr17:78162220 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.45C>T (p.Asp15=) single nucleotide variant Autoinflammatory syndrome [RCV002264469]|Pityriasis rubra pilaris [RCV002128988] Chr17:80181483 [GRCh38]
Chr17:78155282 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.1356+8del deletion Autoinflammatory syndrome [RCV002264470]|Pityriasis rubra pilaris [RCV002129002]|not provided [RCV003456523] Chr17:80192626 [GRCh38]
Chr17:78166425 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.2808-20_2808-19delinsAA indel Pityriasis rubra pilaris [RCV002129293] Chr17:80208118..80208119 [GRCh38]
Chr17:78181917..78181918 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1978+15C>A single nucleotide variant Pityriasis rubra pilaris [RCV002080921] Chr17:80201885 [GRCh38]
Chr17:78175684 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.504G>A (p.Glu168=) single nucleotide variant Pityriasis rubra pilaris [RCV002196026] Chr17:80184067 [GRCh38]
Chr17:78157866 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.606G>A (p.Ser202=) single nucleotide variant Pityriasis rubra pilaris [RCV002173376] Chr17:80184169 [GRCh38]
Chr17:78157968 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1854T>G (p.Val618=) single nucleotide variant Pityriasis rubra pilaris [RCV002171269] Chr17:80201746 [GRCh38]
Chr17:78175545 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.930G>A (p.Glu310=) single nucleotide variant Pityriasis rubra pilaris [RCV002078645] Chr17:80189839 [GRCh38]
Chr17:78163638 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1938G>T (p.Val646=) single nucleotide variant Pityriasis rubra pilaris [RCV002196745] Chr17:80201830 [GRCh38]
Chr17:78175629 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.36G>C (p.Thr12=) single nucleotide variant Pityriasis rubra pilaris [RCV002197447] Chr17:80181474 [GRCh38]
Chr17:78155273 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.356T>A (p.Met119Lys) single nucleotide variant Pityriasis rubra pilaris [RCV003774668]|not provided [RCV002224844] Chr17:80183919 [GRCh38]
Chr17:78157718 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.570G>A (p.Glu190=) single nucleotide variant Autoinflammatory syndrome [RCV002264457]|Pityriasis rubra pilaris [RCV002212401] Chr17:80184133 [GRCh38]
Chr17:78157932 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.2871G>A (p.Glu957=) single nucleotide variant Pityriasis rubra pilaris [RCV002151626] Chr17:80208201 [GRCh38]
Chr17:78182000 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1603C>T (p.Gln535Ter) single nucleotide variant Pityriasis rubra pilaris [RCV002130689] Chr17:80198107 [GRCh38]
Chr17:78171906 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1098C>G (p.Ser366=) single nucleotide variant Pityriasis rubra pilaris [RCV002113248] Chr17:80191331 [GRCh38]
Chr17:78165130 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1962G>A (p.Val654=) single nucleotide variant Pityriasis rubra pilaris [RCV002097224] Chr17:80201854 [GRCh38]
Chr17:78175653 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.462G>A (p.Gln154=) single nucleotide variant Pityriasis rubra pilaris [RCV002093667] Chr17:80184025 [GRCh38]
Chr17:78157824 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1350C>T (p.Ser450=) single nucleotide variant Pityriasis rubra pilaris [RCV002114896] Chr17:80192613 [GRCh38]
Chr17:78166412 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2973C>T (p.Asp991=) single nucleotide variant Pityriasis rubra pilaris [RCV002093648] Chr17:80208303 [GRCh38]
Chr17:78182102 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.964-18G>A single nucleotide variant Pityriasis rubra pilaris [RCV002150173] Chr17:80190756 [GRCh38]
Chr17:78164555 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1276C>A (p.Arg426=) single nucleotide variant Pityriasis rubra pilaris [RCV002151623] Chr17:80192539 [GRCh38]
Chr17:78166338 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1092G>A (p.Ala364=) single nucleotide variant Pityriasis rubra pilaris [RCV002207075] Chr17:80191325 [GRCh38]
Chr17:78165124 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1240-6T>C single nucleotide variant Pityriasis rubra pilaris [RCV002117369] Chr17:80192497 [GRCh38]
Chr17:78166296 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.603C>T (p.Leu201=) single nucleotide variant Pityriasis rubra pilaris [RCV002090335] Chr17:80184166 [GRCh38]
Chr17:78157965 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1978+20C>T single nucleotide variant Pityriasis rubra pilaris [RCV002128493] Chr17:80201890 [GRCh38]
Chr17:78175689 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1090-11G>T single nucleotide variant Pityriasis rubra pilaris [RCV002210850] Chr17:80191312 [GRCh38]
Chr17:78165111 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.555C>T (p.Ser185=) single nucleotide variant Pityriasis rubra pilaris [RCV002077845] Chr17:80184118 [GRCh38]
Chr17:78157917 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2997G>C (p.Thr999=) single nucleotide variant Pityriasis rubra pilaris [RCV002105609] Chr17:80208327 [GRCh38]
Chr17:78182126 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1090-18T>C single nucleotide variant Pityriasis rubra pilaris [RCV002213317] Chr17:80191305 [GRCh38]
Chr17:78165104 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2160C>T (p.Arg720=) single nucleotide variant Pityriasis rubra pilaris [RCV002194666] Chr17:80202361 [GRCh38]
Chr17:78176160 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1752C>T (p.Ser584=) single nucleotide variant Pityriasis rubra pilaris [RCV002089170] Chr17:80198492 [GRCh38]
Chr17:78172291 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2284-20T>C single nucleotide variant Pityriasis rubra pilaris [RCV002209182] Chr17:80204207 [GRCh38]
Chr17:78178006 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2619C>T (p.Ile873=) single nucleotide variant Pityriasis rubra pilaris [RCV002150959] Chr17:80205580 [GRCh38]
Chr17:78179379 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.212-19G>A single nucleotide variant Pityriasis rubra pilaris [RCV002078823] Chr17:80182634 [GRCh38]
Chr17:78156433 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1089+14C>T single nucleotide variant Pityriasis rubra pilaris [RCV002134246] Chr17:80190913 [GRCh38]
Chr17:78164712 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2310G>A (p.Leu770=) single nucleotide variant Pityriasis rubra pilaris [RCV002191513] Chr17:80204253 [GRCh38]
Chr17:78178052 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1852-7C>T single nucleotide variant Pityriasis rubra pilaris [RCV002131455] Chr17:80201737 [GRCh38]
Chr17:78175536 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1090-19C>T single nucleotide variant Pityriasis rubra pilaris [RCV002174122] Chr17:80191304 [GRCh38]
Chr17:78165103 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.813T>C (p.Asn271=) single nucleotide variant Pityriasis rubra pilaris [RCV002215297] Chr17:80188514 [GRCh38]
Chr17:78162313 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2808-15C>A single nucleotide variant Pityriasis rubra pilaris [RCV002108212] Chr17:80208123 [GRCh38]
Chr17:78181922 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1090-16C>T single nucleotide variant Pityriasis rubra pilaris [RCV002077831] Chr17:80191307 [GRCh38]
Chr17:78165106 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1851+12G>C single nucleotide variant Pityriasis rubra pilaris [RCV002171958] Chr17:80198603 [GRCh38]
Chr17:78172402 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2514G>A (p.Gly838=) single nucleotide variant Pityriasis rubra pilaris [RCV002107056] Chr17:80205150 [GRCh38]
Chr17:78178949 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2691+20G>A single nucleotide variant Pityriasis rubra pilaris [RCV002185352] Chr17:80205672 [GRCh38]
Chr17:78179471 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2284-11C>T single nucleotide variant Pityriasis rubra pilaris [RCV002168139] Chr17:80204216 [GRCh38]
Chr17:78178015 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.90C>T (p.Ile30=) single nucleotide variant Autoinflammatory syndrome [RCV002264459]|Pityriasis rubra pilaris [RCV002111818] Chr17:80181528 [GRCh38]
Chr17:78155327 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.1239+12C>T single nucleotide variant Pityriasis rubra pilaris [RCV002131269] Chr17:80191484 [GRCh38]
Chr17:78165283 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.450G>A (p.Leu150=) single nucleotide variant Pityriasis rubra pilaris [RCV002213625] Chr17:80184013 [GRCh38]
Chr17:78157812 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.639G>A (p.Glu213=) single nucleotide variant Pityriasis rubra pilaris [RCV002132926] Chr17:80184202 [GRCh38]
Chr17:78158001 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.676-11C>T single nucleotide variant Pityriasis rubra pilaris [RCV002113871] Chr17:80188366 [GRCh38]
Chr17:78162165 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2508G>A (p.Ala836=) single nucleotide variant Pityriasis rubra pilaris [RCV002136929] Chr17:80205144 [GRCh38]
Chr17:78178943 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1659-15T>C single nucleotide variant Pityriasis rubra pilaris [RCV002101560] Chr17:80198384 [GRCh38]
Chr17:78172183 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.864G>A (p.Glu288=) single nucleotide variant Pityriasis rubra pilaris [RCV002138953] Chr17:80189773 [GRCh38]
Chr17:78163572 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2219+16G>A single nucleotide variant Pityriasis rubra pilaris [RCV002155609] Chr17:80202436 [GRCh38]
Chr17:78176235 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.501C>T (p.Ala167=) single nucleotide variant Pityriasis rubra pilaris [RCV002139265] Chr17:80184064 [GRCh38]
Chr17:78157863 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1659-17C>T single nucleotide variant Pityriasis rubra pilaris [RCV002118011] Chr17:80198382 [GRCh38]
Chr17:78172181 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1356+18G>A single nucleotide variant Pityriasis rubra pilaris [RCV002177740] Chr17:80192637 [GRCh38]
Chr17:78166436 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1755C>T (p.Val585=) single nucleotide variant Pityriasis rubra pilaris [RCV002135940] Chr17:80198495 [GRCh38]
Chr17:78172294 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1128C>T (p.Ser376=) single nucleotide variant Pityriasis rubra pilaris [RCV002082105] Chr17:80191361 [GRCh38]
Chr17:78165160 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1308C>T (p.Ala436=) single nucleotide variant Pityriasis rubra pilaris [RCV002100576] Chr17:80192571 [GRCh38]
Chr17:78166370 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1090-15C>T single nucleotide variant Pityriasis rubra pilaris [RCV002176765] Chr17:80191308 [GRCh38]
Chr17:78165107 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1023A>G (p.Gln341=) single nucleotide variant Pityriasis rubra pilaris [RCV002218302] Chr17:80190833 [GRCh38]
Chr17:78164632 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1089+9G>A single nucleotide variant Pityriasis rubra pilaris [RCV002098161] Chr17:80190908 [GRCh38]
Chr17:78164707 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2808-20C>G single nucleotide variant Pityriasis rubra pilaris [RCV002135892] Chr17:80208118 [GRCh38]
Chr17:78181917 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2219+13C>T single nucleotide variant Pityriasis rubra pilaris [RCV002217713] Chr17:80202433 [GRCh38]
Chr17:78176232 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.396C>T (p.Ile132=) single nucleotide variant Pityriasis rubra pilaris [RCV002164650] Chr17:80183959 [GRCh38]
Chr17:78157758 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.480G>A (p.Leu160=) single nucleotide variant Pityriasis rubra pilaris [RCV002181921] Chr17:80184043 [GRCh38]
Chr17:78157842 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.932G>A (p.Arg311Gln) single nucleotide variant Pityriasis rubra pilaris [RCV002201474] Chr17:80189841 [GRCh38]
Chr17:78163640 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.612C>T (p.His204=) single nucleotide variant Pityriasis rubra pilaris [RCV002083231] Chr17:80184175 [GRCh38]
Chr17:78157974 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.350-13C>T single nucleotide variant Pityriasis rubra pilaris [RCV002218666] Chr17:80183900 [GRCh38]
Chr17:78157699 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1852-14C>T single nucleotide variant Pityriasis rubra pilaris [RCV002197932] Chr17:80201730 [GRCh38]
Chr17:78175529 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2808-19_2808-18insA insertion Pityriasis rubra pilaris [RCV002103620] Chr17:80208119..80208120 [GRCh38]
Chr17:78181918..78181919 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1089+15G>A single nucleotide variant Pityriasis rubra pilaris [RCV002139635] Chr17:80190914 [GRCh38]
Chr17:78164713 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1178C>T (p.Thr393Met) single nucleotide variant Inborn genetic diseases [RCV003015287]|Pityriasis rubra pilaris [RCV002098561]|not provided [RCV002261452] Chr17:80191411 [GRCh38]
Chr17:78165210 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.1938G>A (p.Val646=) single nucleotide variant Pityriasis rubra pilaris [RCV002098684] Chr17:80201830 [GRCh38]
Chr17:78175629 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1978+17T>C single nucleotide variant Pityriasis rubra pilaris [RCV002178132] Chr17:80201887 [GRCh38]
Chr17:78175686 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.212-17C>T single nucleotide variant Pityriasis rubra pilaris [RCV002102607] Chr17:80182636 [GRCh38]
Chr17:78156435 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2398+14A>C single nucleotide variant Pityriasis rubra pilaris [RCV002183469] Chr17:80204355 [GRCh38]
Chr17:78178154 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.212-16G>A single nucleotide variant Pityriasis rubra pilaris [RCV002198934] Chr17:80182637 [GRCh38]
Chr17:78156436 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2841G>A (p.Glu947=) single nucleotide variant Pityriasis rubra pilaris [RCV002103200] Chr17:80208171 [GRCh38]
Chr17:78181970 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1590G>C (p.Thr530=) single nucleotide variant Autoinflammatory syndrome [RCV002264462]|Pityriasis rubra pilaris [RCV002183115]|not provided [RCV003418386] Chr17:80195648 [GRCh38]
Chr17:78169447 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.2808-15C>T single nucleotide variant Pityriasis rubra pilaris [RCV002157914] Chr17:80208123 [GRCh38]
Chr17:78181922 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2808-20C>A single nucleotide variant Pityriasis rubra pilaris [RCV002161828] Chr17:80208118 [GRCh38]
Chr17:78181917 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2559G>A (p.Lys853=) single nucleotide variant Pityriasis rubra pilaris [RCV002199889] Chr17:80205195 [GRCh38]
Chr17:78178994 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.211+20C>T single nucleotide variant Pityriasis rubra pilaris [RCV002123134] Chr17:80181669 [GRCh38]
Chr17:78155468 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1356+18_1356+19del deletion Pityriasis rubra pilaris [RCV002118094] Chr17:80192636..80192637 [GRCh38]
Chr17:78166435..78166436 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.676-15C>T single nucleotide variant Pityriasis rubra pilaris [RCV002083813] Chr17:80188362 [GRCh38]
Chr17:78162161 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2808-19C>G single nucleotide variant Pityriasis rubra pilaris [RCV002200702] Chr17:80208119 [GRCh38]
Chr17:78181918 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.765C>T (p.Ser255=) single nucleotide variant Pityriasis rubra pilaris [RCV002101371] Chr17:80188466 [GRCh38]
Chr17:78162265 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.996G>A (p.Gln332=) single nucleotide variant Pityriasis rubra pilaris [RCV002161100] Chr17:80190806 [GRCh38]
Chr17:78164605 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1182C>T (p.Asp394=) single nucleotide variant Pityriasis rubra pilaris [RCV002121398] Chr17:80191415 [GRCh38]
Chr17:78165214 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1077G>A (p.Lys359=) single nucleotide variant Pityriasis rubra pilaris [RCV002142773] Chr17:80190887 [GRCh38]
Chr17:78164686 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.150C>G (p.Cys50Trp) single nucleotide variant Pityriasis rubra pilaris [RCV003109342] Chr17:80181588 [GRCh38]
Chr17:78155387 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.672G>A (p.Glu224=) single nucleotide variant Pityriasis rubra pilaris [RCV003114828] Chr17:80184235 [GRCh38]
Chr17:78158034 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1121A>C (p.Glu374Ala) single nucleotide variant Pityriasis rubra pilaris [RCV003118487] Chr17:80191354 [GRCh38]
Chr17:78165153 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_76851749)_(78367298_?)dup duplication Pityriasis rubra pilaris [RCV003122634] Chr17:76851749..78367298 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78177601)_(78179471_?)dup duplication Pityriasis rubra pilaris [RCV003122635] Chr17:78177601..78179471 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78155238)_(78166438_?)dup duplication Pityriasis rubra pilaris [RCV003122636] Chr17:78155238..78166438 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78177655)_(78183100_?)del deletion Pityriasis rubra pilaris [RCV003122637] Chr17:78177655..78183100 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78109289)_(78272338_?)dup duplication Mucopolysaccharidosis, MPS-III-A [RCV003122169] Chr17:78109289..78272338 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2570-3T>C single nucleotide variant Pityriasis rubra pilaris [RCV003095879]|not provided [RCV002261582] Chr17:80205528 [GRCh38]
Chr17:78179327 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.451C>G (p.Arg151Gly) single nucleotide variant not provided [RCV002261581] Chr17:80184014 [GRCh38]
Chr17:78157813 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 copy number gain not provided [RCV002276051] Chr17:73481509..81043199 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_001366385.1(CARD14):c.900G>C (p.Glu300Asp) single nucleotide variant Pityriasis rubra pilaris [RCV002297023] Chr17:80189809 [GRCh38]
Chr17:78163608 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.*165CA[2] microsatellite Autoinflammatory syndrome [RCV002264547] Chr17:80208510..80208513 [GRCh38]
Chr17:78182309..78182312 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1270T>C (p.Cys424Arg) single nucleotide variant Autoinflammatory syndrome [RCV002264569]|Pityriasis rubra pilaris [RCV003095924] Chr17:80192533 [GRCh38]
Chr17:78166332 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1460G>A (p.Arg487Gln) single nucleotide variant Autoinflammatory syndrome [RCV002264571]|Pityriasis rubra pilaris [RCV003095925] Chr17:80195294 [GRCh38]
Chr17:78169093 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1929C>T (p.Leu643=) single nucleotide variant Autoinflammatory syndrome [RCV002264577] Chr17:80201821 [GRCh38]
Chr17:78175620 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1979-4T>C single nucleotide variant Autoinflammatory syndrome [RCV002264578] Chr17:80202176 [GRCh38]
Chr17:78175975 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2153C>G (p.Ala718Gly) single nucleotide variant Autoinflammatory syndrome [RCV002264581] Chr17:80202354 [GRCh38]
Chr17:78176153 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2579G>T (p.Ser860Ile) single nucleotide variant Autoinflammatory syndrome [RCV002264582]|Pityriasis rubra pilaris [RCV003774813] Chr17:80205540 [GRCh38]
Chr17:78179339 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2933T>C (p.Leu978Pro) single nucleotide variant Autoinflammatory syndrome [RCV002264585] Chr17:80208263 [GRCh38]
Chr17:78182062 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2985G>A (p.Lys995=) single nucleotide variant Autoinflammatory syndrome [RCV002264586] Chr17:80208315 [GRCh38]
Chr17:78182114 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.502G>A (p.Glu168Lys) single nucleotide variant Autoinflammatory syndrome [RCV002264590] Chr17:80184065 [GRCh38]
Chr17:78157864 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.758C>T (p.Thr253Ile) single nucleotide variant Autoinflammatory syndrome [RCV002264591]|Pityriasis rubra pilaris [RCV003095930] Chr17:80188459 [GRCh38]
Chr17:78162258 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.823C>T (p.Arg275Cys) single nucleotide variant Autoinflammatory syndrome [RCV002264592]|Inborn genetic diseases [RCV003164378]|Pityriasis rubra pilaris [RCV003095931] Chr17:80188524 [GRCh38]
Chr17:78162323 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.827C>G (p.Ser276Trp) single nucleotide variant Autoinflammatory syndrome [RCV002264593] Chr17:80188528 [GRCh38]
Chr17:78162327 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.-8G>T single nucleotide variant Autoinflammatory syndrome [RCV002264596]|CARD14-related condition [RCV003926350] Chr17:80181431 [GRCh38]
Chr17:78155230 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.*7G>A single nucleotide variant Autoinflammatory syndrome [RCV002262010] Chr17:80208352 [GRCh38]
Chr17:78182151 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1154T>G (p.Leu385Arg) single nucleotide variant Autoinflammatory syndrome [RCV002264566] Chr17:80191387 [GRCh38]
Chr17:78165186 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1329C>A (p.Ser443Arg) single nucleotide variant Autoinflammatory syndrome [RCV002264570] Chr17:80192592 [GRCh38]
Chr17:78166391 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1468G>A (p.Glu490Lys) single nucleotide variant Autoinflammatory syndrome [RCV002264572]|Pityriasis rubra pilaris [RCV003774811] Chr17:80195302 [GRCh38]
Chr17:78169101 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1558G>A (p.Asp520Asn) single nucleotide variant Autoinflammatory syndrome [RCV002264573] Chr17:80195616 [GRCh38]
Chr17:78169415 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1602G>A (p.Pro534=) single nucleotide variant Autoinflammatory syndrome [RCV002264575] Chr17:80198106 [GRCh38]
Chr17:78171905 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1865C>G (p.Ala622Gly) single nucleotide variant Autoinflammatory syndrome [RCV002264576] Chr17:80201757 [GRCh38]
Chr17:78175556 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2025G>A (p.Ser675=) single nucleotide variant Autoinflammatory syndrome [RCV002264579]|Pityriasis rubra pilaris [RCV003095926] Chr17:80202226 [GRCh38]
Chr17:78176025 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2113G>A (p.Val705Ile) single nucleotide variant Autoinflammatory syndrome [RCV002264580]|Pityriasis rubra pilaris [RCV003774812] Chr17:80202314 [GRCh38]
Chr17:78176113 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2638T>C (p.Ser880Pro) single nucleotide variant Autoinflammatory syndrome [RCV002264583]|Pityriasis rubra pilaris [RCV003095927] Chr17:80205599 [GRCh38]
Chr17:78179398 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.288C>T (p.Asn96=) single nucleotide variant Autoinflammatory syndrome [RCV002264584]|Pityriasis rubra pilaris [RCV003095928] Chr17:80182729 [GRCh38]
Chr17:78156528 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.326A>T (p.Asp109Val) single nucleotide variant Autoinflammatory syndrome [RCV002264587] Chr17:80182767 [GRCh38]
Chr17:78156566 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.350-4A>G single nucleotide variant Autoinflammatory syndrome [RCV002264588]|Pityriasis rubra pilaris [RCV003095929] Chr17:80183909 [GRCh38]
Chr17:78157708 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001366385.1(CARD14):c.366C>T (p.Ser122=) single nucleotide variant Autoinflammatory syndrome [RCV002264589] Chr17:80183929 [GRCh38]
Chr17:78157728 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.883C>T (p.Arg295Trp) single nucleotide variant Autoinflammatory syndrome [RCV002264594] Chr17:80189792 [GRCh38]
Chr17:78163591 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.898G>T (p.Glu300Ter) single nucleotide variant Autoinflammatory syndrome [RCV002264595] Chr17:80189807 [GRCh38]
Chr17:78163606 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.*6C>T single nucleotide variant Autoinflammatory syndrome [RCV002264604] Chr17:80208351 [GRCh38]
Chr17:78182150 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1790G>T (p.Arg597Leu) single nucleotide variant Familial pityriasis rubra pilaris [RCV002472066] Chr17:80198530 [GRCh38]
Chr17:78172329 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1147G>T (p.Asp383Tyr) single nucleotide variant Pityriasis rubra pilaris [RCV002296620] Chr17:80191380 [GRCh38]
Chr17:78165179 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1709C>A (p.Thr570Asn) single nucleotide variant Pityriasis rubra pilaris [RCV002303688] Chr17:80198449 [GRCh38]
Chr17:78172248 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1982A>T (p.Tyr661Phe) single nucleotide variant Pityriasis rubra pilaris [RCV002300242] Chr17:80202183 [GRCh38]
Chr17:78175982 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2269A>T (p.Thr757Ser) single nucleotide variant Pityriasis rubra pilaris [RCV002301459] Chr17:80203871 [GRCh38]
Chr17:78177670 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2639C>T (p.Ser880Phe) single nucleotide variant Pityriasis rubra pilaris [RCV002300235] Chr17:80205600 [GRCh38]
Chr17:78179399 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.64A>G (p.Met22Val) single nucleotide variant Pityriasis rubra pilaris [RCV002294820] Chr17:80181502 [GRCh38]
Chr17:78155301 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2946C>A (p.Leu982=) single nucleotide variant Pityriasis rubra pilaris [RCV002613582] Chr17:80208276 [GRCh38]
Chr17:78182075 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1100C>A (p.Ala367Glu) single nucleotide variant Inborn genetic diseases [RCV003167611]|Pityriasis rubra pilaris [RCV002685612] Chr17:80191333 [GRCh38]
Chr17:78165132 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1089+12G>C single nucleotide variant Pityriasis rubra pilaris [RCV002839062] Chr17:80190911 [GRCh38]
Chr17:78164710 [GRCh37]
Chr17:17q25.3
likely benign
NC_000017.11:g.80184231AGG[4] microsatellite Pityriasis rubra pilaris [RCV002903782] Chr17:80184230..80184231 [GRCh38]
Chr17:78158029..78158030 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.87G>C (p.Arg29Ser) single nucleotide variant Inborn genetic diseases [RCV002860195] Chr17:80181525 [GRCh38]
Chr17:78155324 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.486G>A (p.Leu162=) single nucleotide variant Pityriasis rubra pilaris [RCV002881120] Chr17:80184049 [GRCh38]
Chr17:78157848 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.349+20C>T single nucleotide variant Pityriasis rubra pilaris [RCV002614227] Chr17:80182810 [GRCh38]
Chr17:78156609 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.49G>A (p.Glu17Lys) single nucleotide variant Pityriasis rubra pilaris [RCV002614351] Chr17:80181487 [GRCh38]
Chr17:78155286 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1171G>C (p.Glu391Gln) single nucleotide variant Pityriasis rubra pilaris [RCV002727182] Chr17:80191404 [GRCh38]
Chr17:78165203 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2177T>C (p.Met726Thr) single nucleotide variant Pityriasis rubra pilaris [RCV002842013] Chr17:80202378 [GRCh38]
Chr17:78176177 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2973C>A (p.Asp991Glu) single nucleotide variant Pityriasis rubra pilaris [RCV003032387] Chr17:80208303 [GRCh38]
Chr17:78182102 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.843+9C>T single nucleotide variant Pityriasis rubra pilaris [RCV002614774] Chr17:80188553 [GRCh38]
Chr17:78162352 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1851+19C>T single nucleotide variant Pityriasis rubra pilaris [RCV002902889] Chr17:80198610 [GRCh38]
Chr17:78172409 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1191C>T (p.Cys397=) single nucleotide variant Pityriasis rubra pilaris [RCV002974905] Chr17:80191424 [GRCh38]
Chr17:78165223 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1831C>T (p.Pro611Ser) single nucleotide variant Pityriasis rubra pilaris [RCV002727136] Chr17:80198571 [GRCh38]
Chr17:78172370 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.632_633insAAAGGAGCTGGCCGCCTCTCGCTGCACTATAGCAATGCGCTGCAGGA (p.Arg220fs) insertion Pityriasis rubra pilaris [RCV003033536] Chr17:80184161..80184162 [GRCh38]
Chr17:78157960..78157961 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2163G>A (p.Val721=) single nucleotide variant Pityriasis rubra pilaris [RCV002726364] Chr17:80202364 [GRCh38]
Chr17:78176163 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.925C>T (p.Arg309Trp) single nucleotide variant Pityriasis rubra pilaris [RCV002996182] Chr17:80189834 [GRCh38]
Chr17:78163633 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1985dup (p.Arg663fs) duplication Pityriasis rubra pilaris [RCV002843837] Chr17:80202184..80202185 [GRCh38]
Chr17:78175983..78175984 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.238C>T (p.Arg80Ter) single nucleotide variant Pityriasis rubra pilaris [RCV002903846] Chr17:80182679 [GRCh38]
Chr17:78156478 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.760G>A (p.Ala254Thr) single nucleotide variant Inborn genetic diseases [RCV002817679]|Pityriasis rubra pilaris [RCV003777803] Chr17:80188461 [GRCh38]
Chr17:78162260 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.925C>G (p.Arg309Gly) single nucleotide variant Pityriasis rubra pilaris [RCV002615842] Chr17:80189834 [GRCh38]
Chr17:78163633 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1450C>T (p.Leu484=) single nucleotide variant not provided [RCV002511882] Chr17:80195284 [GRCh38]
Chr17:78169083 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.727G>C (p.Glu243Gln) single nucleotide variant Pityriasis rubra pilaris [RCV002731346] Chr17:80188428 [GRCh38]
Chr17:78162227 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2645del (p.Gly882fs) deletion Pityriasis rubra pilaris [RCV002880852] Chr17:80205602 [GRCh38]
Chr17:78179401 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1979-10C>T single nucleotide variant Pityriasis rubra pilaris [RCV002731176] Chr17:80202170 [GRCh38]
Chr17:78175969 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.431G>A (p.Gly144Glu) single nucleotide variant Pityriasis rubra pilaris [RCV002824839] Chr17:80183994 [GRCh38]
Chr17:78157793 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1557C>A (p.Gly519=) single nucleotide variant Pityriasis rubra pilaris [RCV003021713] Chr17:80195615 [GRCh38]
Chr17:78169414 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1356+4C>A single nucleotide variant Pityriasis rubra pilaris [RCV002871547] Chr17:80192623 [GRCh38]
Chr17:78166422 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2006A>G (p.Glu669Gly) single nucleotide variant Pityriasis rubra pilaris [RCV002662648] Chr17:80202207 [GRCh38]
Chr17:78176006 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2058C>T (p.Ala686=) single nucleotide variant Pityriasis rubra pilaris [RCV002953842] Chr17:80202259 [GRCh38]
Chr17:78176058 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2690del (p.Lys897fs) deletion Pityriasis rubra pilaris [RCV002662943] Chr17:80205648 [GRCh38]
Chr17:78179447 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1793_1851+33del deletion Pityriasis rubra pilaris [RCV002871133] Chr17:80198528..80198619 [GRCh38]
Chr17:78172327..78172418 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.402C>A (p.Ser134Arg) single nucleotide variant Pityriasis rubra pilaris [RCV003080363] Chr17:80183965 [GRCh38]
Chr17:78157764 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2398+11G>A single nucleotide variant Pityriasis rubra pilaris [RCV002866665] Chr17:80204352 [GRCh38]
Chr17:78178151 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.876C>T (p.Asp292=) single nucleotide variant Pityriasis rubra pilaris [RCV003100256] Chr17:80189785 [GRCh38]
Chr17:78163584 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2482C>T (p.Arg828Trp) single nucleotide variant Pityriasis rubra pilaris [RCV002637145] Chr17:80205118 [GRCh38]
Chr17:78178917 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.676-7C>T single nucleotide variant Pityriasis rubra pilaris [RCV002998803] Chr17:80188370 [GRCh38]
Chr17:78162169 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1658+19T>A single nucleotide variant Pityriasis rubra pilaris [RCV002591825] Chr17:80198181 [GRCh38]
Chr17:78171980 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.484C>T (p.Leu162=) single nucleotide variant Pityriasis rubra pilaris [RCV003080153] Chr17:80184047 [GRCh38]
Chr17:78157846 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.926G>A (p.Arg309Gln) single nucleotide variant Pityriasis rubra pilaris [RCV002948600] Chr17:80189835 [GRCh38]
Chr17:78163634 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1357-8_1357-3del deletion Pityriasis rubra pilaris [RCV003038215] Chr17:80195181..80195186 [GRCh38]
Chr17:78168980..78168985 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2388C>G (p.Ser796Arg) single nucleotide variant Pityriasis rubra pilaris [RCV002690639] Chr17:80204331 [GRCh38]
Chr17:78178130 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2574C>T (p.Tyr858=) single nucleotide variant Pityriasis rubra pilaris [RCV002797261] Chr17:80205535 [GRCh38]
Chr17:78179334 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.117C>A (p.Leu39=) single nucleotide variant Pityriasis rubra pilaris [RCV003080898] Chr17:80181555 [GRCh38]
Chr17:78155354 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2630G>A (p.Gly877Glu) single nucleotide variant Pityriasis rubra pilaris [RCV003038717] Chr17:80205591 [GRCh38]
Chr17:78179390 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.21G>A (p.Arg7=) single nucleotide variant Pityriasis rubra pilaris [RCV002736360] Chr17:80181459 [GRCh38]
Chr17:78155258 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1499+9C>A single nucleotide variant Pityriasis rubra pilaris [RCV002706021] Chr17:80195342 [GRCh38]
Chr17:78169141 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.972A>T (p.Glu324Asp) single nucleotide variant Pityriasis rubra pilaris [RCV003002364] Chr17:80190782 [GRCh38]
Chr17:78164581 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.675+8G>T single nucleotide variant Pityriasis rubra pilaris [RCV002885462] Chr17:80184246 [GRCh38]
Chr17:78158045 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1595-18C>T single nucleotide variant Pityriasis rubra pilaris [RCV002590598] Chr17:80198081 [GRCh38]
Chr17:78171880 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2671G>A (p.Val891Met) single nucleotide variant Pityriasis rubra pilaris [RCV002705260] Chr17:80205632 [GRCh38]
Chr17:78179431 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2284-15C>T single nucleotide variant Pityriasis rubra pilaris [RCV002570311] Chr17:80204212 [GRCh38]
Chr17:78178011 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1429G>A (p.Ala477Thr) single nucleotide variant Pityriasis rubra pilaris [RCV002591582] Chr17:80195263 [GRCh38]
Chr17:78169062 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1162C>T (p.Gln388Ter) single nucleotide variant Pityriasis rubra pilaris [RCV002820521] Chr17:80191395 [GRCh38]
Chr17:78165194 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.676-16C>A single nucleotide variant Pityriasis rubra pilaris [RCV002622173] Chr17:80188361 [GRCh38]
Chr17:78162160 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1990C>T (p.Leu664=) single nucleotide variant Pityriasis rubra pilaris [RCV002870858] Chr17:80202191 [GRCh38]
Chr17:78175990 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1661G>C (p.Gly554Ala) single nucleotide variant Pityriasis rubra pilaris [RCV002948710] Chr17:80198401 [GRCh38]
Chr17:78172200 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2536_2537del (p.Cys846fs) microsatellite Pityriasis rubra pilaris [RCV003021021] Chr17:80205170..80205171 [GRCh38]
Chr17:78178969..78178970 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2808-20C>T single nucleotide variant Pityriasis rubra pilaris [RCV002636796] Chr17:80208118 [GRCh38]
Chr17:78181917 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2100C>T (p.Asn700=) single nucleotide variant Pityriasis rubra pilaris [RCV003056496] Chr17:80202301 [GRCh38]
Chr17:78176100 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1676G>A (p.Arg559Gln) single nucleotide variant Pityriasis rubra pilaris [RCV002741220] Chr17:80198416 [GRCh38]
Chr17:78172215 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.349+16T>C single nucleotide variant Pityriasis rubra pilaris [RCV002766748] Chr17:80182806 [GRCh38]
Chr17:78156605 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1838C>T (p.Thr613Ile) single nucleotide variant not provided [RCV003059922] Chr17:80198578 [GRCh38]
Chr17:78172377 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1133G>A (p.Ser378Asn) single nucleotide variant Pityriasis rubra pilaris [RCV003043498] Chr17:80191366 [GRCh38]
Chr17:78165165 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.349+12G>A single nucleotide variant Pityriasis rubra pilaris [RCV002914616] Chr17:80182802 [GRCh38]
Chr17:78156601 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1329C>T (p.Ser443=) single nucleotide variant Pityriasis rubra pilaris [RCV002575120] Chr17:80192592 [GRCh38]
Chr17:78166391 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2569+15G>A single nucleotide variant Pityriasis rubra pilaris [RCV002933127] Chr17:80205220 [GRCh38]
Chr17:78179019 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2411G>A (p.Cys804Tyr) single nucleotide variant Pityriasis rubra pilaris [RCV002595377] Chr17:80205047 [GRCh38]
Chr17:78178846 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2540T>A (p.Leu847His) single nucleotide variant Pityriasis rubra pilaris [RCV002828228] Chr17:80205176 [GRCh38]
Chr17:78178975 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1679G>A (p.Arg560Lys) single nucleotide variant Inborn genetic diseases [RCV002788775]|Pityriasis rubra pilaris [RCV003777761] Chr17:80198419 [GRCh38]
Chr17:78172218 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.310A>G (p.Thr104Ala) single nucleotide variant Inborn genetic diseases [RCV002803023] Chr17:80182751 [GRCh38]
Chr17:78156550 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.846G>A (p.Ala282=) single nucleotide variant Pityriasis rubra pilaris [RCV002800585] Chr17:80189755 [GRCh38]
Chr17:78163554 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1090-14G>A single nucleotide variant Pityriasis rubra pilaris [RCV002572798] Chr17:80191309 [GRCh38]
Chr17:78165108 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1817A>C (p.Gln606Pro) single nucleotide variant Pityriasis rubra pilaris [RCV003041496] Chr17:80198557 [GRCh38]
Chr17:78172356 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.884G>C (p.Arg295Pro) single nucleotide variant Inborn genetic diseases [RCV002743909] Chr17:80189793 [GRCh38]
Chr17:78163592 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1560C>T (p.Asp520=) single nucleotide variant Pityriasis rubra pilaris [RCV002595232] Chr17:80195618 [GRCh38]
Chr17:78169417 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1297C>T (p.Arg433Trp) single nucleotide variant Pityriasis rubra pilaris [RCV002625735] Chr17:80192560 [GRCh38]
Chr17:78166359 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1670T>A (p.Met557Lys) single nucleotide variant Pityriasis rubra pilaris [RCV002790757] Chr17:80198410 [GRCh38]
Chr17:78172209 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.645C>T (p.Ala215=) single nucleotide variant Pityriasis rubra pilaris [RCV002915063] Chr17:80184208 [GRCh38]
Chr17:78158007 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2595G>A (p.Glu865=) single nucleotide variant Pityriasis rubra pilaris [RCV003085553] Chr17:80205556 [GRCh38]
Chr17:78179355 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.914T>G (p.Ile305Ser) single nucleotide variant Inborn genetic diseases [RCV002892122] Chr17:80189823 [GRCh38]
Chr17:78163622 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2377T>A (p.Leu793Met) single nucleotide variant Pityriasis rubra pilaris [RCV002829129] Chr17:80204320 [GRCh38]
Chr17:78178119 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.797G>A (p.Arg266His) single nucleotide variant Pityriasis rubra pilaris [RCV002625065] Chr17:80188498 [GRCh38]
Chr17:78162297 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.397G>T (p.Gly133Cys) single nucleotide variant Pityriasis rubra pilaris [RCV003040982] Chr17:80183960 [GRCh38]
Chr17:78157759 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.963+6G>C single nucleotide variant Pityriasis rubra pilaris [RCV002766720] Chr17:80189878 [GRCh38]
Chr17:78163677 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1590G>T (p.Thr530=) single nucleotide variant Pityriasis rubra pilaris [RCV003085307] Chr17:80195648 [GRCh38]
Chr17:78169447 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1064G>A (p.Cys355Tyr) single nucleotide variant Inborn genetic diseases [RCV002892236]|Pityriasis rubra pilaris [RCV003777904] Chr17:80190874 [GRCh38]
Chr17:78164673 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1913A>C (p.Glu638Ala) single nucleotide variant Pityriasis rubra pilaris [RCV002801576] Chr17:80201805 [GRCh38]
Chr17:78175604 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.842T>C (p.Leu281Pro) single nucleotide variant Pityriasis rubra pilaris [RCV002642877] Chr17:80188543 [GRCh38]
Chr17:78162342 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2626G>A (p.Glu876Lys) single nucleotide variant Pityriasis rubra pilaris [RCV002932831] Chr17:80205587 [GRCh38]
Chr17:78179386 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1762G>A (p.Gly588Arg) single nucleotide variant Inborn genetic diseases [RCV003250739]|Pityriasis rubra pilaris [RCV003081856] Chr17:80198502 [GRCh38]
Chr17:78172301 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1636G>A (p.Gly546Arg) single nucleotide variant Inborn genetic diseases [RCV002812788] Chr17:80198140 [GRCh38]
Chr17:78171939 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1449C>T (p.Ser483=) single nucleotide variant Pityriasis rubra pilaris [RCV003026927] Chr17:80195283 [GRCh38]
Chr17:78169082 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1352_1353del (p.Thr451fs) microsatellite Pityriasis rubra pilaris [RCV003066031] Chr17:80192613..80192614 [GRCh38]
Chr17:78166412..78166413 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1895A>G (p.Glu632Gly) single nucleotide variant Pityriasis rubra pilaris [RCV003091444] Chr17:80201787 [GRCh38]
Chr17:78175586 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2539C>T (p.Leu847Phe) single nucleotide variant Pityriasis rubra pilaris [RCV003092182] Chr17:80205175 [GRCh38]
Chr17:78178974 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.611A>G (p.His204Arg) single nucleotide variant Pityriasis rubra pilaris [RCV002967395] Chr17:80184174 [GRCh38]
Chr17:78157973 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1170C>G (p.Phe390Leu) single nucleotide variant Pityriasis rubra pilaris [RCV003030079] Chr17:80191403 [GRCh38]
Chr17:78165202 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2691+11G>A single nucleotide variant Pityriasis rubra pilaris [RCV002770177] Chr17:80205663 [GRCh38]
Chr17:78179462 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2115C>T (p.Val705=) single nucleotide variant Pityriasis rubra pilaris [RCV002650758] Chr17:80202316 [GRCh38]
Chr17:78176115 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2683A>G (p.Met895Val) single nucleotide variant Pityriasis rubra pilaris [RCV002966784] Chr17:80205644 [GRCh38]
Chr17:78179443 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2770C>A (p.His924Asn) single nucleotide variant Pityriasis rubra pilaris [RCV002966602] Chr17:80207048 [GRCh38]
Chr17:78180847 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1089+3A>G single nucleotide variant Pityriasis rubra pilaris [RCV002938294] Chr17:80190902 [GRCh38]
Chr17:78164701 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1090-11G>A single nucleotide variant Pityriasis rubra pilaris [RCV003065568] Chr17:80191312 [GRCh38]
Chr17:78165111 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.963+9dup duplication Pityriasis rubra pilaris [RCV002716182] Chr17:80189880..80189881 [GRCh38]
Chr17:78163679..78163680 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.350-2A>G single nucleotide variant Pityriasis rubra pilaris [RCV002834280] Chr17:80183911 [GRCh38]
Chr17:78157710 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2570-13A>G single nucleotide variant Pityriasis rubra pilaris [RCV002746110] Chr17:80205518 [GRCh38]
Chr17:78179317 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.663C>T (p.Ser221=) single nucleotide variant Pityriasis rubra pilaris [RCV002857351] Chr17:80184226 [GRCh38]
Chr17:78158025 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1245G>A (p.Lys415=) single nucleotide variant Pityriasis rubra pilaris [RCV002598551] Chr17:80192508 [GRCh38]
Chr17:78166307 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1675C>T (p.Arg559Trp) single nucleotide variant Inborn genetic diseases [RCV003269478]|Pityriasis rubra pilaris [RCV002599438] Chr17:80198415 [GRCh38]
Chr17:78172214 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.892C>A (p.Arg298=) single nucleotide variant Pityriasis rubra pilaris [RCV002811211] Chr17:80189801 [GRCh38]
Chr17:78163600 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1594+4A>G single nucleotide variant Pityriasis rubra pilaris [RCV002580773] Chr17:80195656 [GRCh38]
Chr17:78169455 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1438A>G (p.Ser480Gly) single nucleotide variant Pityriasis rubra pilaris [RCV002938065] Chr17:80195272 [GRCh38]
Chr17:78169071 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.715G>A (p.Val239Ile) single nucleotide variant Pityriasis rubra pilaris [RCV002645956] Chr17:80188416 [GRCh38]
Chr17:78162215 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2929_2940del (p.Asp977_Gly980del) deletion Pityriasis rubra pilaris [RCV002811031] Chr17:80208257..80208268 [GRCh38]
Chr17:78182056..78182067 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1101G>A (p.Ala367=) single nucleotide variant Pityriasis rubra pilaris [RCV002629164] Chr17:80191334 [GRCh38]
Chr17:78165133 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1500-9G>C single nucleotide variant Pityriasis rubra pilaris [RCV002856524] Chr17:80195549 [GRCh38]
Chr17:78169348 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2219+3G>A single nucleotide variant Pityriasis rubra pilaris [RCV003028398] Chr17:80202423 [GRCh38]
Chr17:78176222 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.211+1G>C single nucleotide variant Pityriasis rubra pilaris [RCV002717288] Chr17:80181650 [GRCh38]
Chr17:78155449 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1658+8G>A single nucleotide variant Pityriasis rubra pilaris [RCV002650772] Chr17:80198170 [GRCh38]
Chr17:78171969 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1107C>T (p.Asp369=) single nucleotide variant Pityriasis rubra pilaris [RCV003090895] Chr17:80191340 [GRCh38]
Chr17:78165139 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1979G>A (p.Gly660Asp) single nucleotide variant Pityriasis rubra pilaris [RCV002632407] Chr17:80202180 [GRCh38]
Chr17:78175979 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2172C>T (p.Tyr724=) single nucleotide variant Pityriasis rubra pilaris [RCV002962342] Chr17:80202373 [GRCh38]
Chr17:78176172 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2769C>T (p.Ile923=) single nucleotide variant Pityriasis rubra pilaris [RCV002601416] Chr17:80207047 [GRCh38]
Chr17:78180846 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.46G>A (p.Glu16Lys) single nucleotide variant Pityriasis rubra pilaris [RCV002671148] Chr17:80181484 [GRCh38]
Chr17:78155283 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2151T>C (p.His717=) single nucleotide variant Pityriasis rubra pilaris [RCV002653900] Chr17:80202352 [GRCh38]
Chr17:78176151 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1240-20G>C single nucleotide variant Pityriasis rubra pilaris [RCV002725872] Chr17:80192483 [GRCh38]
Chr17:78166282 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1125T>C (p.Ile375=) single nucleotide variant Pityriasis rubra pilaris [RCV002633365] Chr17:80191358 [GRCh38]
Chr17:78165157 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2272G>A (p.Val758Met) single nucleotide variant Pityriasis rubra pilaris [RCV003093205] Chr17:80203874 [GRCh38]
Chr17:78177673 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2399-6C>T single nucleotide variant Pityriasis rubra pilaris [RCV002942459] Chr17:80205029 [GRCh38]
Chr17:78178828 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1604A>G (p.Gln535Arg) single nucleotide variant Pityriasis rubra pilaris [RCV002721689] Chr17:80198108 [GRCh38]
Chr17:78171907 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1852-18T>C single nucleotide variant Pityriasis rubra pilaris [RCV002634169] Chr17:80201726 [GRCh38]
Chr17:78175525 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1658+11G>T single nucleotide variant Pityriasis rubra pilaris [RCV002605887] Chr17:80198173 [GRCh38]
Chr17:78171972 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2219+15C>T single nucleotide variant Pityriasis rubra pilaris [RCV002635630] Chr17:80202435 [GRCh38]
Chr17:78176234 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2848C>T (p.Leu950=) single nucleotide variant Pityriasis rubra pilaris [RCV002585734] Chr17:80208178 [GRCh38]
Chr17:78181977 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2818C>T (p.Gln940Ter) single nucleotide variant Pityriasis rubra pilaris [RCV002607371] Chr17:80208148 [GRCh38]
Chr17:78181947 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1105G>A (p.Asp369Asn) single nucleotide variant Pityriasis rubra pilaris [RCV002654769] Chr17:80191338 [GRCh38]
Chr17:78165137 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1239+11C>T single nucleotide variant Pityriasis rubra pilaris [RCV003072764] Chr17:80191483 [GRCh38]
Chr17:78165282 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1851+12G>A single nucleotide variant Pityriasis rubra pilaris [RCV003067768] Chr17:80198603 [GRCh38]
Chr17:78172402 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1541C>T (p.Pro514Leu) single nucleotide variant Pityriasis rubra pilaris [RCV003067769] Chr17:80195599 [GRCh38]
Chr17:78169398 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1504T>C (p.Cys502Arg) single nucleotide variant Pityriasis rubra pilaris [RCV002657755] Chr17:80195562 [GRCh38]
Chr17:78169361 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.63G>A (p.Glu21=) single nucleotide variant Pityriasis rubra pilaris [RCV002587031] Chr17:80181501 [GRCh38]
Chr17:78155300 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1583T>C (p.Leu528Pro) single nucleotide variant Pityriasis rubra pilaris [RCV002634955] Chr17:80195641 [GRCh38]
Chr17:78169440 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.764G>A (p.Ser255Asn) single nucleotide variant Pityriasis rubra pilaris [RCV003071170] Chr17:80188465 [GRCh38]
Chr17:78162264 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1846G>A (p.Val616Met) single nucleotide variant Pityriasis rubra pilaris [RCV002942458] Chr17:80198586 [GRCh38]
Chr17:78172385 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2010C>G (p.Ala670=) single nucleotide variant Pityriasis rubra pilaris [RCV002657749] Chr17:80202211 [GRCh38]
Chr17:78176010 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1855G>T (p.Asp619Tyr) single nucleotide variant Pityriasis rubra pilaris [RCV002609497] Chr17:80201747 [GRCh38]
Chr17:78175546 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1659-20G>A single nucleotide variant Pityriasis rubra pilaris [RCV002589234] Chr17:80198379 [GRCh38]
Chr17:78172178 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1812G>A (p.Ala604=) single nucleotide variant Pityriasis rubra pilaris [RCV003066977] Chr17:80198552 [GRCh38]
Chr17:78172351 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1467C>T (p.Ala489=) single nucleotide variant Pityriasis rubra pilaris [RCV002584178] Chr17:80195301 [GRCh38]
Chr17:78169100 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2929G>A (p.Asp977Asn) single nucleotide variant Pityriasis rubra pilaris [RCV003070144] Chr17:80208259 [GRCh38]
Chr17:78182058 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2153C>T (p.Ala718Val) single nucleotide variant Pityriasis rubra pilaris [RCV002610257] Chr17:80202354 [GRCh38]
Chr17:78176153 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2569+13C>G single nucleotide variant Pityriasis rubra pilaris [RCV002612542] Chr17:80205218 [GRCh38]
Chr17:78179017 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.179G>A (p.Ser60Asn) single nucleotide variant Inborn genetic diseases [RCV003219340]|Pityriasis rubra pilaris [RCV003779710] Chr17:80181617 [GRCh38]
Chr17:78155416 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2007G>A (p.Glu669=) single nucleotide variant Pityriasis rubra pilaris [RCV003224657] Chr17:80202208 [GRCh38]
Chr17:78176007 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2500C>G (p.Pro834Ala) single nucleotide variant Inborn genetic diseases [RCV003195243] Chr17:80205136 [GRCh38]
Chr17:78178935 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1066G>A (p.Glu356Lys) single nucleotide variant Inborn genetic diseases [RCV003174361]|Pityriasis rubra pilaris [RCV003779619] Chr17:80190876 [GRCh38]
Chr17:78164675 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1547C>A (p.Ala516Asp) single nucleotide variant Inborn genetic diseases [RCV003216010] Chr17:80195605 [GRCh38]
Chr17:78169404 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.876C>A (p.Asp292Glu) single nucleotide variant Inborn genetic diseases [RCV003374171]|Pityriasis rubra pilaris [RCV003778064] Chr17:80189785 [GRCh38]
Chr17:78163584 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1324G>C (p.Asp442His) single nucleotide variant Pityriasis rubra pilaris [RCV003791776] Chr17:80192587 [GRCh38]
Chr17:78166386 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.251G>A (p.Gly84Glu) single nucleotide variant Pityriasis rubra pilaris [RCV003458284] Chr17:80182692 [GRCh38]
Chr17:78156491 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.964-19T>A single nucleotide variant Pityriasis rubra pilaris [RCV003781612] Chr17:80190755 [GRCh38]
Chr17:78164554 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2663G>C (p.Arg888Pro) single nucleotide variant CARD14-related condition [RCV003418916] Chr17:80205624 [GRCh38]
Chr17:78179423 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2382C>G (p.Asp794Glu) single nucleotide variant Pityriasis rubra pilaris [RCV003781489] Chr17:80204325 [GRCh38]
Chr17:78178124 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2467C>T (p.Arg823Ter) single nucleotide variant not provided [RCV003480263] Chr17:80205103 [GRCh38]
Chr17:78178902 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1836C>A (p.Gly612=) single nucleotide variant not provided [RCV003421534] Chr17:80198576 [GRCh38]
Chr17:78172375 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1659-17C>G single nucleotide variant Pityriasis rubra pilaris [RCV003790819] Chr17:80198382 [GRCh38]
Chr17:78172181 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2958C>T (p.Arg986=) single nucleotide variant Pityriasis rubra pilaris [RCV003791041] Chr17:80208288 [GRCh38]
Chr17:78182087 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.36G>A (p.Thr12=) single nucleotide variant not provided [RCV003422956] Chr17:80181474 [GRCh38]
Chr17:78155273 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.828G>C (p.Ser276=) single nucleotide variant Pityriasis rubra pilaris [RCV003778397]|not provided [RCV003422957] Chr17:80188529 [GRCh38]
Chr17:78162328 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1851+107C>T single nucleotide variant CARD14-related condition [RCV003414273] Chr17:80198698 [GRCh38]
Chr17:78172497 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2220-13C>A single nucleotide variant Pityriasis rubra pilaris [RCV003807814] Chr17:80203809 [GRCh38]
Chr17:78177608 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1965G>A (p.Lys655=) single nucleotide variant Pityriasis rubra pilaris [RCV003793801] Chr17:80201857 [GRCh38]
Chr17:78175656 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1561_1564del (p.Pro521fs) deletion Pityriasis rubra pilaris [RCV003784745] Chr17:80195617..80195620 [GRCh38]
Chr17:78169416..78169419 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1089+16G>A single nucleotide variant Pityriasis rubra pilaris [RCV003784829] Chr17:80190915 [GRCh38]
Chr17:78164714 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1081C>T (p.Arg361Ter) single nucleotide variant Pityriasis rubra pilaris [RCV003785900] Chr17:80190891 [GRCh38]
Chr17:78164690 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1046C>A (p.Ala349Glu) single nucleotide variant Pityriasis rubra pilaris [RCV003793987] Chr17:80190856 [GRCh38]
Chr17:78164655 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2448T>A (p.Tyr816Ter) single nucleotide variant Pityriasis rubra pilaris [RCV003804217] Chr17:80205084 [GRCh38]
Chr17:78178883 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1216C>A (p.Leu406Met) single nucleotide variant Pityriasis rubra pilaris [RCV003805517] Chr17:80191449 [GRCh38]
Chr17:78165248 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.768C>T (p.Asp256=) single nucleotide variant Pityriasis rubra pilaris [RCV003796569] Chr17:80188469 [GRCh38]
Chr17:78162268 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2658G>T (p.Val886=) single nucleotide variant Pityriasis rubra pilaris [RCV003806558] Chr17:80205619 [GRCh38]
Chr17:78179418 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2538C>A (p.Cys846Ter) single nucleotide variant Pityriasis rubra pilaris [RCV003791380] Chr17:80205174 [GRCh38]
Chr17:78178973 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1014G>A (p.Met338Ile) single nucleotide variant Pityriasis rubra pilaris [RCV003794089] Chr17:80190824 [GRCh38]
Chr17:78164623 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1978+12A>C single nucleotide variant Pityriasis rubra pilaris [RCV003785253] Chr17:80201882 [GRCh38]
Chr17:78175681 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1259C>T (p.Thr420Ile) single nucleotide variant Pityriasis rubra pilaris [RCV003790239] Chr17:80192522 [GRCh38]
Chr17:78166321 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2126T>C (p.Met709Thr) single nucleotide variant Pityriasis rubra pilaris [RCV003796613] Chr17:80202327 [GRCh38]
Chr17:78176126 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1194G>C (p.Glu398Asp) single nucleotide variant Pityriasis rubra pilaris [RCV003797528] Chr17:80191427 [GRCh38]
Chr17:78165226 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1820T>C (p.Met607Thr) single nucleotide variant Pityriasis rubra pilaris [RCV003787584] Chr17:80198560 [GRCh38]
Chr17:78172359 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.107C>T (p.Pro36Leu) single nucleotide variant Pityriasis rubra pilaris [RCV003785255] Chr17:80181545 [GRCh38]
Chr17:78155344 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.342C>T (p.Asn114=) single nucleotide variant Pityriasis rubra pilaris [RCV003793144] Chr17:80182783 [GRCh38]
Chr17:78156582 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1239+15C>T single nucleotide variant Pityriasis rubra pilaris [RCV003794498] Chr17:80191487 [GRCh38]
Chr17:78165286 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2456T>C (p.Val819Ala) single nucleotide variant Pityriasis rubra pilaris [RCV003797381] Chr17:80205092 [GRCh38]
Chr17:78178891 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1270T>G (p.Cys424Gly) single nucleotide variant Pityriasis rubra pilaris [RCV003797655] Chr17:80192533 [GRCh38]
Chr17:78166332 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.81C>T (p.Arg27=) single nucleotide variant Pityriasis rubra pilaris [RCV003781649] Chr17:80181519 [GRCh38]
Chr17:78155318 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1762G>C (p.Gly588Arg) single nucleotide variant Pityriasis rubra pilaris [RCV003805838] Chr17:80198502 [GRCh38]
Chr17:78172301 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.349+8C>T single nucleotide variant Pityriasis rubra pilaris [RCV003784251] Chr17:80182798 [GRCh38]
Chr17:78156597 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2117C>T (p.Thr706Ile) single nucleotide variant Pityriasis rubra pilaris [RCV003797132] Chr17:80202318 [GRCh38]
Chr17:78176117 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2037C>T (p.Phe679=) single nucleotide variant Pityriasis rubra pilaris [RCV003782986] Chr17:80202238 [GRCh38]
Chr17:78176037 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1800G>A (p.Pro600=) single nucleotide variant Pityriasis rubra pilaris [RCV003796032] Chr17:80198540 [GRCh38]
Chr17:78172339 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2598C>G (p.Ala866=) single nucleotide variant Pityriasis rubra pilaris [RCV003807763] Chr17:80205559 [GRCh38]
Chr17:78179358 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1089+7G>A single nucleotide variant Pityriasis rubra pilaris [RCV003794624] Chr17:80190906 [GRCh38]
Chr17:78164705 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.844-4C>T single nucleotide variant Pityriasis rubra pilaris [RCV003807665] Chr17:80189749 [GRCh38]
Chr17:78163548 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1851+7C>T single nucleotide variant Pityriasis rubra pilaris [RCV003784594] Chr17:80198598 [GRCh38]
Chr17:78172397 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1269C>T (p.Pro423=) single nucleotide variant Pityriasis rubra pilaris [RCV003780334] Chr17:80192532 [GRCh38]
Chr17:78166331 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1459C>T (p.Arg487Trp) single nucleotide variant Pityriasis rubra pilaris [RCV003781815] Chr17:80195293 [GRCh38]
Chr17:78169092 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2808-19C>T single nucleotide variant Pityriasis rubra pilaris [RCV003784624] Chr17:80208119 [GRCh38]
Chr17:78181918 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1672C>A (p.Arg558=) single nucleotide variant Pityriasis rubra pilaris [RCV003804482] Chr17:80198412 [GRCh38]
Chr17:78172211 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2244C>T (p.Leu748=) single nucleotide variant Pityriasis rubra pilaris [RCV003787431] Chr17:80203846 [GRCh38]
Chr17:78177645 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.977A>C (p.Lys326Thr) single nucleotide variant Pityriasis rubra pilaris [RCV003789656] Chr17:80190787 [GRCh38]
Chr17:78164586 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.801G>A (p.Leu267=) single nucleotide variant Pityriasis rubra pilaris [RCV003794345] Chr17:80188502 [GRCh38]
Chr17:78162301 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2377T>G (p.Leu793Val) single nucleotide variant Pityriasis rubra pilaris [RCV003794487] Chr17:80204320 [GRCh38]
Chr17:78178119 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2691+4_2691+5dup duplication Pityriasis rubra pilaris [RCV003784851] Chr17:80205654..80205655 [GRCh38]
Chr17:78179453..78179454 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.99C>T (p.Cys33=) single nucleotide variant Pityriasis rubra pilaris [RCV003794430] Chr17:80181537 [GRCh38]
Chr17:78155336 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1349C>T (p.Ser450Phe) single nucleotide variant Pityriasis rubra pilaris [RCV003791341] Chr17:80192612 [GRCh38]
Chr17:78166411 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2024C>T (p.Ser675Leu) single nucleotide variant Pityriasis rubra pilaris [RCV003788416] Chr17:80202225 [GRCh38]
Chr17:78176024 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.30A>G (p.Ala10=) single nucleotide variant Pityriasis rubra pilaris [RCV003784263] Chr17:80181468 [GRCh38]
Chr17:78155267 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1869A>G (p.Ser623=) single nucleotide variant Pityriasis rubra pilaris [RCV003805490] Chr17:80201761 [GRCh38]
Chr17:78175560 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2459G>A (p.Arg820Gln) single nucleotide variant Pityriasis rubra pilaris [RCV003784623] Chr17:80205095 [GRCh38]
Chr17:78178894 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2057C>T (p.Ala686Val) single nucleotide variant Pityriasis rubra pilaris [RCV003783036] Chr17:80202258 [GRCh38]
Chr17:78176057 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.646G>T (p.Ala216Ser) single nucleotide variant Pityriasis rubra pilaris [RCV003805551] Chr17:80184209 [GRCh38]
Chr17:78158008 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1775G>A (p.Gly592Asp) single nucleotide variant Pityriasis rubra pilaris [RCV003804296] Chr17:80198515 [GRCh38]
Chr17:78172314 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1239+13G>A single nucleotide variant Pityriasis rubra pilaris [RCV003806386] Chr17:80191485 [GRCh38]
Chr17:78165284 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.212-20A>G single nucleotide variant Pityriasis rubra pilaris [RCV003784414] Chr17:80182633 [GRCh38]
Chr17:78156432 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2570-18G>A single nucleotide variant Pityriasis rubra pilaris [RCV003781291] Chr17:80205513 [GRCh38]
Chr17:78179312 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2877C>T (p.Asp959=) single nucleotide variant Pityriasis rubra pilaris [RCV003791878] Chr17:80208207 [GRCh38]
Chr17:78182006 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.4G>A (p.Gly2Arg) single nucleotide variant Pityriasis rubra pilaris [RCV003794789] Chr17:80181442 [GRCh38]
Chr17:78155241 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.619A>G (p.Asn207Asp) single nucleotide variant Pityriasis rubra pilaris [RCV003795474] Chr17:80184182 [GRCh38]
Chr17:78157981 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1681C>T (p.Pro561Ser) single nucleotide variant Pityriasis rubra pilaris [RCV003787266] Chr17:80198421 [GRCh38]
Chr17:78172220 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2957G>A (p.Arg986His) single nucleotide variant Pityriasis rubra pilaris [RCV003790116] Chr17:80208287 [GRCh38]
Chr17:78182086 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.211+6C>T single nucleotide variant Pityriasis rubra pilaris [RCV003788003] Chr17:80181655 [GRCh38]
Chr17:78155454 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.963+6G>T single nucleotide variant Pityriasis rubra pilaris [RCV003793573] Chr17:80189878 [GRCh38]
Chr17:78163677 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2544C>G (p.Leu848=) single nucleotide variant Pityriasis rubra pilaris [RCV003804427] Chr17:80205180 [GRCh38]
Chr17:78178979 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2164A>G (p.Asn722Asp) single nucleotide variant Pityriasis rubra pilaris [RCV003783713] Chr17:80202365 [GRCh38]
Chr17:78176164 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2570-11G>A single nucleotide variant Pityriasis rubra pilaris [RCV003789317] Chr17:80205520 [GRCh38]
Chr17:78179319 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1851+9T>C single nucleotide variant Pityriasis rubra pilaris [RCV003782380] Chr17:80198600 [GRCh38]
Chr17:78172399 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2628G>A (p.Glu876=) single nucleotide variant Pityriasis rubra pilaris [RCV003804323] Chr17:80205589 [GRCh38]
Chr17:78179388 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.675+19C>G single nucleotide variant Pityriasis rubra pilaris [RCV003789365] Chr17:80184257 [GRCh38]
Chr17:78158056 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1058A>C (p.Gln353Pro) single nucleotide variant Pityriasis rubra pilaris [RCV003786447] Chr17:80190868 [GRCh38]
Chr17:78164667 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1144A>G (p.Lys382Glu) single nucleotide variant Pityriasis rubra pilaris [RCV003792774] Chr17:80191377 [GRCh38]
Chr17:78165176 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1055C>G (p.Ala352Gly) single nucleotide variant Pityriasis rubra pilaris [RCV003805328] Chr17:80190865 [GRCh38]
Chr17:78164664 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2836G>A (p.Glu946Lys) single nucleotide variant Pityriasis rubra pilaris [RCV003806598] Chr17:80208166 [GRCh38]
Chr17:78181965 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.129G>A (p.Leu43=) single nucleotide variant Pityriasis rubra pilaris [RCV003787032] Chr17:80181567 [GRCh38]
Chr17:78155366 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1089+15G>C single nucleotide variant Pityriasis rubra pilaris [RCV003787104] Chr17:80190914 [GRCh38]
Chr17:78164713 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1816C>T (p.Gln606Ter) single nucleotide variant Pityriasis rubra pilaris [RCV003781417] Chr17:80198556 [GRCh38]
Chr17:78172355 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2533C>A (p.Leu845Met) single nucleotide variant Pityriasis rubra pilaris [RCV003791527] Chr17:80205169 [GRCh38]
Chr17:78178968 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1594+8C>T single nucleotide variant Pityriasis rubra pilaris [RCV003782905] Chr17:80195660 [GRCh38]
Chr17:78169459 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1937T>C (p.Val646Ala) single nucleotide variant Pityriasis rubra pilaris [RCV003780865] Chr17:80201829 [GRCh38]
Chr17:78175628 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1232C>G (p.Pro411Arg) single nucleotide variant Pityriasis rubra pilaris [RCV003805958] Chr17:80191465 [GRCh38]
Chr17:78165264 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2881G>A (p.Asp961Asn) single nucleotide variant Pityriasis rubra pilaris [RCV003789615] Chr17:80208211 [GRCh38]
Chr17:78182010 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1646A>C (p.Asp549Ala) single nucleotide variant Pityriasis rubra pilaris [RCV003806381] Chr17:80198150 [GRCh38]
Chr17:78171949 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1517C>G (p.Pro506Arg) single nucleotide variant Pityriasis rubra pilaris [RCV003781564] Chr17:80195575 [GRCh38]
Chr17:78169374 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1882A>G (p.Lys628Glu) single nucleotide variant Pityriasis rubra pilaris [RCV003787438] Chr17:80201774 [GRCh38]
Chr17:78175573 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.350-16G>C single nucleotide variant Pityriasis rubra pilaris [RCV003780358] Chr17:80183897 [GRCh38]
Chr17:78157696 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2197G>A (p.Gly733Ser) single nucleotide variant Pityriasis rubra pilaris [RCV003789729] Chr17:80202398 [GRCh38]
Chr17:78176197 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2503del (p.Arg835fs) deletion Pityriasis rubra pilaris [RCV003795293] Chr17:80205139 [GRCh38]
Chr17:78178938 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2807+2T>C single nucleotide variant Pityriasis rubra pilaris [RCV003806755] Chr17:80207087 [GRCh38]
Chr17:78180886 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2220-19C>A single nucleotide variant Pityriasis rubra pilaris [RCV003807370] Chr17:80203803 [GRCh38]
Chr17:78177602 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2691+16G>T single nucleotide variant Pityriasis rubra pilaris [RCV003791930] Chr17:80205668 [GRCh38]
Chr17:78179467 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2666A>G (p.His889Arg) single nucleotide variant Pityriasis rubra pilaris [RCV003781678] Chr17:80205627 [GRCh38]
Chr17:78179426 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.910C>T (p.Arg304Cys) single nucleotide variant Pityriasis rubra pilaris [RCV003783242] Chr17:80189819 [GRCh38]
Chr17:78163618 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1352C>T (p.Thr451Ile) single nucleotide variant Pityriasis rubra pilaris [RCV003780995] Chr17:80192615 [GRCh38]
Chr17:78166414 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.349+7G>A single nucleotide variant Pityriasis rubra pilaris [RCV003804509] Chr17:80182797 [GRCh38]
Chr17:78156596 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2168C>A (p.Ser723Tyr) single nucleotide variant Pityriasis rubra pilaris [RCV003785049] Chr17:80202369 [GRCh38]
Chr17:78176168 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2882A>C (p.Asp961Ala) single nucleotide variant Pityriasis rubra pilaris [RCV003807108] Chr17:80208212 [GRCh38]
Chr17:78182011 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2663G>A (p.Arg888His) single nucleotide variant Pityriasis rubra pilaris [RCV003787117] Chr17:80205624 [GRCh38]
Chr17:78179423 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1488del (p.Trp497fs) deletion Pityriasis rubra pilaris [RCV003795340] Chr17:80195320 [GRCh38]
Chr17:78169119 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1090-18T>A single nucleotide variant Pityriasis rubra pilaris [RCV003796228] Chr17:80191305 [GRCh38]
Chr17:78165104 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1500-20C>A single nucleotide variant Pityriasis rubra pilaris [RCV003796945] Chr17:80195538 [GRCh38]
Chr17:78169337 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1557C>T (p.Gly519=) single nucleotide variant CARD14-related condition [RCV003921354]|Pityriasis rubra pilaris [RCV003804737] Chr17:80195615 [GRCh38]
Chr17:78169414 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.843G>T (p.Leu281=) single nucleotide variant Pityriasis rubra pilaris [RCV003795440] Chr17:80188544 [GRCh38]
Chr17:78162343 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1594+9G>C single nucleotide variant Pityriasis rubra pilaris [RCV003789932] Chr17:80195661 [GRCh38]
Chr17:78169460 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.536G>T (p.Arg179Leu) single nucleotide variant Pityriasis rubra pilaris [RCV003790490] Chr17:80184099 [GRCh38]
Chr17:78157898 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1978+2T>C single nucleotide variant Pityriasis rubra pilaris [RCV003784691] Chr17:80201872 [GRCh38]
Chr17:78175671 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.253G>A (p.Ala85Thr) single nucleotide variant Pityriasis rubra pilaris [RCV003785151] Chr17:80182694 [GRCh38]
Chr17:78156493 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.376G>A (p.Glu126Lys) single nucleotide variant Pityriasis rubra pilaris [RCV003783904] Chr17:80183939 [GRCh38]
Chr17:78157738 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1013T>C (p.Met338Thr) single nucleotide variant Pityriasis rubra pilaris [RCV003791084] Chr17:80190823 [GRCh38]
Chr17:78164622 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1157G>T (p.Arg386Leu) single nucleotide variant Pityriasis rubra pilaris [RCV003781790] Chr17:80191390 [GRCh38]
Chr17:78165189 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.350-16G>T single nucleotide variant Pityriasis rubra pilaris [RCV003787152] Chr17:80183897 [GRCh38]
Chr17:78157696 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.669G>A (p.Gln223=) single nucleotide variant Pityriasis rubra pilaris [RCV003781899] Chr17:80184232 [GRCh38]
Chr17:78158031 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1925T>A (p.Leu642His) single nucleotide variant Pityriasis rubra pilaris [RCV003781142] Chr17:80201817 [GRCh38]
Chr17:78175616 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.698T>C (p.Leu233Pro) single nucleotide variant Pityriasis rubra pilaris [RCV003783424] Chr17:80188399 [GRCh38]
Chr17:78162198 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2472C>T (p.Pro824=) single nucleotide variant Pityriasis rubra pilaris [RCV003784077] Chr17:80205108 [GRCh38]
Chr17:78178907 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.828G>T (p.Ser276=) single nucleotide variant Pityriasis rubra pilaris [RCV003789930] Chr17:80188529 [GRCh38]
Chr17:78162328 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.199G>A (p.Ala67Thr) single nucleotide variant Pityriasis rubra pilaris [RCV003793777] Chr17:80181637 [GRCh38]
Chr17:78155436 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2481_2482delinsTT (p.Arg828Trp) indel Pityriasis rubra pilaris [RCV003791348] Chr17:80205117..80205118 [GRCh38]
Chr17:78178916..78178917 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1401G>C (p.Leu467=) single nucleotide variant Pityriasis rubra pilaris [RCV003787498] Chr17:80195235 [GRCh38]
Chr17:78169034 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.676-774C>T single nucleotide variant not specified [RCV003490303] Chr17:80187603 [GRCh38]
Chr17:78161402 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.2463C>T (p.Pro821=) single nucleotide variant Pityriasis rubra pilaris [RCV003788599] Chr17:80205099 [GRCh38]
Chr17:78178898 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.13_14del (p.Cys5fs) microsatellite Pityriasis rubra pilaris [RCV003804118] Chr17:80181449..80181450 [GRCh38]
Chr17:78155248..78155249 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2967C>T (p.Ile989=) single nucleotide variant Pityriasis rubra pilaris [RCV003783109] Chr17:80208297 [GRCh38]
Chr17:78182096 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1258A>G (p.Thr420Ala) single nucleotide variant Pityriasis rubra pilaris [RCV003783721] Chr17:80192521 [GRCh38]
Chr17:78166320 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1266G>C (p.Glu422Asp) single nucleotide variant Pityriasis rubra pilaris [RCV003789699] Chr17:80192529 [GRCh38]
Chr17:78166328 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2569+10T>G single nucleotide variant Pityriasis rubra pilaris [RCV003788225] Chr17:80205215 [GRCh38]
Chr17:78179014 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2691+19T>G single nucleotide variant Pityriasis rubra pilaris [RCV003794026] Chr17:80205671 [GRCh38]
Chr17:78179470 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.349+19A>G single nucleotide variant Pityriasis rubra pilaris [RCV003786876] Chr17:80182809 [GRCh38]
Chr17:78156608 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1631C>A (p.Ser544Tyr) single nucleotide variant Pityriasis rubra pilaris [RCV003799755] Chr17:80198135 [GRCh38]
Chr17:78171934 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.669G>C (p.Gln223His) single nucleotide variant Pityriasis rubra pilaris [RCV003813298] Chr17:80184232 [GRCh38]
Chr17:78158031 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1964A>T (p.Lys655Met) single nucleotide variant Pityriasis rubra pilaris [RCV003810128] Chr17:80201856 [GRCh38]
Chr17:78175655 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1744C>T (p.Gln582Ter) single nucleotide variant Pityriasis rubra pilaris [RCV003801114] Chr17:80198484 [GRCh38]
Chr17:78172283 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1240-14C>T single nucleotide variant Pityriasis rubra pilaris [RCV003810409] Chr17:80192489 [GRCh38]
Chr17:78166288 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.56T>C (p.Leu19Pro) single nucleotide variant Pityriasis rubra pilaris [RCV003798087] Chr17:80181494 [GRCh38]
Chr17:78155293 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.576G>A (p.Leu192=) single nucleotide variant Pityriasis rubra pilaris [RCV003798286] Chr17:80184139 [GRCh38]
Chr17:78157938 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2857G>T (p.Ala953Ser) single nucleotide variant Pityriasis rubra pilaris [RCV003812762] Chr17:80208187 [GRCh38]
Chr17:78181986 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2845C>A (p.Leu949Ile) single nucleotide variant Pityriasis rubra pilaris [RCV003808445] Chr17:80208175 [GRCh38]
Chr17:78181974 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2261A>T (p.Gln754Leu) single nucleotide variant Pityriasis rubra pilaris [RCV003809616] Chr17:80203863 [GRCh38]
Chr17:78177662 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2587G>A (p.Glu863Lys) single nucleotide variant Pityriasis rubra pilaris [RCV003809646] Chr17:80205548 [GRCh38]
Chr17:78179347 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2271C>T (p.Thr757=) single nucleotide variant Pityriasis rubra pilaris [RCV003809686] Chr17:80203873 [GRCh38]
Chr17:78177672 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1156C>A (p.Arg386Ser) single nucleotide variant Pityriasis rubra pilaris [RCV003808556] Chr17:80191389 [GRCh38]
Chr17:78165188 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2408C>G (p.Thr803Arg) single nucleotide variant Pityriasis rubra pilaris [RCV003799489] Chr17:80205044 [GRCh38]
Chr17:78178843 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2807+8C>A single nucleotide variant Pityriasis rubra pilaris [RCV003799485] Chr17:80207093 [GRCh38]
Chr17:78180892 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.452G>A (p.Arg151Gln) single nucleotide variant Pityriasis rubra pilaris [RCV003813114] Chr17:80184015 [GRCh38]
Chr17:78157814 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2066G>A (p.Gly689Asp) single nucleotide variant Pityriasis rubra pilaris [RCV003798680] Chr17:80202267 [GRCh38]
Chr17:78176066 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1920G>A (p.Val640=) single nucleotide variant Pityriasis rubra pilaris [RCV003813566] Chr17:80201812 [GRCh38]
Chr17:78175611 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.773A>C (p.Glu258Ala) single nucleotide variant Pityriasis rubra pilaris [RCV003801116] Chr17:80188474 [GRCh38]
Chr17:78162273 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2019G>T (p.Ala673=) single nucleotide variant Pityriasis rubra pilaris [RCV003797873] Chr17:80202220 [GRCh38]
Chr17:78176019 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1499+2T>C single nucleotide variant Pityriasis rubra pilaris [RCV003815704] Chr17:80195335 [GRCh38]
Chr17:78169134 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.531C>A (p.His177Gln) single nucleotide variant Pityriasis rubra pilaris [RCV003817832] Chr17:80184094 [GRCh38]
Chr17:78157893 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.807G>A (p.Glu269=) single nucleotide variant Pityriasis rubra pilaris [RCV003798488] Chr17:80188508 [GRCh38]
Chr17:78162307 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1852-11C>T single nucleotide variant Pityriasis rubra pilaris [RCV003800066] Chr17:80201733 [GRCh38]
Chr17:78175532 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.19A>T (p.Arg7Trp) single nucleotide variant Pityriasis rubra pilaris [RCV003798658] Chr17:80181457 [GRCh38]
Chr17:78155256 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1038G>A (p.Lys346=) single nucleotide variant Pityriasis rubra pilaris [RCV003799286] Chr17:80190848 [GRCh38]
Chr17:78164647 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1761C>T (p.Gly587=) single nucleotide variant Pityriasis rubra pilaris [RCV003801530] Chr17:80198501 [GRCh38]
Chr17:78172300 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.648C>T (p.Ala216=) single nucleotide variant Pityriasis rubra pilaris [RCV003799796] Chr17:80184211 [GRCh38]
Chr17:78158010 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1099G>C (p.Ala367Pro) single nucleotide variant Pityriasis rubra pilaris [RCV003799826] Chr17:80191332 [GRCh38]
Chr17:78165131 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2409G>T (p.Thr803=) single nucleotide variant Pityriasis rubra pilaris [RCV003800399] Chr17:80205045 [GRCh38]
Chr17:78178844 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1324G>A (p.Asp442Asn) single nucleotide variant Pityriasis rubra pilaris [RCV003813463] Chr17:80192587 [GRCh38]
Chr17:78166386 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2005G>A (p.Glu669Lys) single nucleotide variant Pityriasis rubra pilaris [RCV003801456] Chr17:80202206 [GRCh38]
Chr17:78176005 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1847T>C (p.Val616Ala) single nucleotide variant Pityriasis rubra pilaris [RCV003800180] Chr17:80198587 [GRCh38]
Chr17:78172386 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2777C>G (p.Ser926Cys) single nucleotide variant Pityriasis rubra pilaris [RCV003801671] Chr17:80207055 [GRCh38]
Chr17:78180854 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.212-8C>T single nucleotide variant Pityriasis rubra pilaris [RCV003808994] Chr17:80182645 [GRCh38]
Chr17:78156444 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2538C>G (p.Cys846Trp) single nucleotide variant Pityriasis rubra pilaris [RCV003798875] Chr17:80205174 [GRCh38]
Chr17:78178973 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.844-11C>T single nucleotide variant Pityriasis rubra pilaris [RCV003799858] Chr17:80189742 [GRCh38]
Chr17:78163541 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1796C>A (p.Thr599Asn) single nucleotide variant Pityriasis rubra pilaris [RCV003812410] Chr17:80198536 [GRCh38]
Chr17:78172335 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2918A>G (p.Asp973Gly) single nucleotide variant Pityriasis rubra pilaris [RCV003809116] Chr17:80208248 [GRCh38]
Chr17:78182047 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2292T>C (p.Ser764=) single nucleotide variant Pityriasis rubra pilaris [RCV003801475] Chr17:80204235 [GRCh38]
Chr17:78178034 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1487C>A (p.Pro496His) single nucleotide variant Pityriasis rubra pilaris [RCV003801472] Chr17:80195321 [GRCh38]
Chr17:78169120 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2283+14G>A single nucleotide variant Pityriasis rubra pilaris [RCV003817763] Chr17:80203899 [GRCh38]
Chr17:78177698 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1206G>C (p.Gln402His) single nucleotide variant Pityriasis rubra pilaris [RCV003808981] Chr17:80191439 [GRCh38]
Chr17:78165238 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.676-7C>A single nucleotide variant Pityriasis rubra pilaris [RCV003808518] Chr17:80188370 [GRCh38]
Chr17:78162169 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.941C>A (p.Ala314Asp) single nucleotide variant Pityriasis rubra pilaris [RCV003800514] Chr17:80189850 [GRCh38]
Chr17:78163649 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2891C>T (p.Pro964Leu) single nucleotide variant Pityriasis rubra pilaris [RCV003815619] Chr17:80208221 [GRCh38]
Chr17:78182020 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.473A>G (p.Glu158Gly) single nucleotide variant Pityriasis rubra pilaris [RCV003809251] Chr17:80184036 [GRCh38]
Chr17:78157835 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1487C>G (p.Pro496Arg) single nucleotide variant Pityriasis rubra pilaris [RCV003798595] Chr17:80195321 [GRCh38]
Chr17:78169120 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2220-3_2220-2dup duplication Pityriasis rubra pilaris [RCV003799248] Chr17:80203818..80203819 [GRCh38]
Chr17:78177617..78177618 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1593_1594+1del deletion Pityriasis rubra pilaris [RCV003798439] Chr17:80195651..80195653 [GRCh38]
Chr17:78169450..78169452 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.191C>T (p.Thr64Ile) single nucleotide variant Pityriasis rubra pilaris [RCV003798065] Chr17:80181629 [GRCh38]
Chr17:78155428 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1737G>A (p.Leu579=) single nucleotide variant Pityriasis rubra pilaris [RCV003803542] Chr17:80198477 [GRCh38]
Chr17:78172276 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.2437C>T (p.Leu813=) single nucleotide variant Pityriasis rubra pilaris [RCV003803056] Chr17:80205073 [GRCh38]
Chr17:78178872 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1793T>C (p.Val598Ala) single nucleotide variant Pityriasis rubra pilaris [RCV003802382] Chr17:80198533 [GRCh38]
Chr17:78172332 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.131_132dup (p.Gln45fs) microsatellite Pityriasis rubra pilaris [RCV003803630] Chr17:80181566..80181567 [GRCh38]
Chr17:78155365..78155366 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.2567C>T (p.Ala856Val) single nucleotide variant Pityriasis rubra pilaris [RCV003803094] Chr17:80205203 [GRCh38]
Chr17:78179002 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.322C>T (p.Pro108Ser) single nucleotide variant Pityriasis rubra pilaris [RCV003802348] Chr17:80182763 [GRCh38]
Chr17:78156562 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1858T>A (p.Tyr620Asn) single nucleotide variant Pityriasis rubra pilaris [RCV003802870] Chr17:80201750 [GRCh38]
Chr17:78175549 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1979-26_1979-16del microsatellite CARD14-related condition [RCV003941604] Chr17:80202141..80202151 [GRCh38]
Chr17:78175940..78175950 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1420A>T (p.Ser474Cys) single nucleotide variant Pityriasis rubra pilaris [RCV003802989] Chr17:80195254 [GRCh38]
Chr17:78169053 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.333_334insCGAC (p.Phe112fs) insertion Pityriasis rubra pilaris [RCV003803642] Chr17:80182771..80182772 [GRCh38]
Chr17:78156570..78156571 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001366385.1(CARD14):c.1851+175G>A single nucleotide variant CARD14-related condition [RCV003921754] Chr17:80198766 [GRCh38]
Chr17:78172565 [GRCh37]
Chr17:17q25.3
likely benign
NM_001366385.1(CARD14):c.1851+114C>T single nucleotide variant CARD14-related condition [RCV003931635] Chr17:80198705 [GRCh38]
Chr17:78172504 [GRCh37]
Chr17:17q25.3
benign
NM_001366385.1(CARD14):c.1734A>G (p.Ala578=) single nucleotide variant CARD14-related condition [RCV003949603] Chr17:80198474 [GRCh38]
Chr17:78172273 [GRCh37]
Chr17:17q25.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5154
Count of miRNA genes:1165
Interacting mature miRNAs:1499
Transcripts:ENST00000344227, ENST00000392434, ENST00000570421, ENST00000571427, ENST00000571450, ENST00000571861, ENST00000572838, ENST00000573489, ENST00000573754, ENST00000573882, ENST00000574148, ENST00000575465, ENST00000575500, ENST00000575666, ENST00000576785
Prediction methods:Microtar, Miranda, Pita, 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
SHGC-84620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371778,171,823 - 78,172,061UniSTSGRCh37
GRCh371778,171,756 - 78,172,061UniSTSGRCh37
Build 361775,786,351 - 75,786,656RGDNCBI36
Celera1774,801,012 - 74,801,250UniSTS
Celera1774,800,945 - 74,801,250RGD
Cytogenetic Map17q25UniSTS
HuRef1773,612,024 - 73,612,329UniSTS
HuRef1773,612,091 - 73,612,329UniSTS
TNG Radiation Hybrid Map1735958.0UniSTS
SHGC-82425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371778,171,697 - 78,172,043UniSTSGRCh37
Build 361775,786,292 - 75,786,638RGDNCBI36
Celera1774,800,886 - 74,801,232RGD
Cytogenetic Map17q25UniSTS
HuRef1773,611,965 - 73,612,311UniSTS
TNG Radiation Hybrid Map1735945.0UniSTS
A005O39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371778,175,266 - 78,175,555UniSTSGRCh37
Build 361775,789,861 - 75,790,150RGDNCBI36
Celera1774,804,457 - 74,804,746RGD
Cytogenetic Map17q25UniSTS
HuRef1773,615,536 - 73,615,825UniSTS
GeneMap99-GB4 RH Map17521.47UniSTS
NCBI RH Map17810.0UniSTS
RH78492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371778,183,166 - 78,183,339UniSTSGRCh37
Build 361775,797,761 - 75,797,934RGDNCBI36
Celera1774,812,357 - 74,812,530RGD
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17q25UniSTS
HuRef1773,623,435 - 73,623,608UniSTS
GeneMap99-GB4 RH Map17521.47UniSTS
NCBI RH Map17810.0UniSTS
CARD14_3621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371778,182,187 - 78,182,930UniSTSGRCh37
Build 361775,796,782 - 75,797,525RGDNCBI36
Celera1774,811,378 - 74,812,121RGD
HuRef1773,622,456 - 73,623,199UniSTS
D10S16   No map positions available.
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
RH36905  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3q27-q28UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map3q12.2-q12.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q12-q13.1UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map10q21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map10q25-q26UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map16q22.1UniSTS
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
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
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Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


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 1 2 1 8 2 1232 1 1 114 11 8 3 670
Low 1251 408 1218 209 744 57 1335 411 1870 193 1207 1403 162 645 715 4
Below cutoff 1178 2567 481 384 1103 384 1786 1775 1834 204 125 188 556 1401

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF322642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX746790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY032927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU617627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA461380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB314596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU652409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000344227   ⟹   ENSP00000344549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,178,508 - 80,209,309 (+)Ensembl
RefSeq Acc Id: ENST00000570421   ⟹   ENSP00000461806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,178,499 - 80,202,631 (+)Ensembl
RefSeq Acc Id: ENST00000571427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,170,277 - 80,209,331 (+)Ensembl
RefSeq Acc Id: ENST00000571450   ⟹   ENSP00000460405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,184,175 - 80,204,235 (+)Ensembl
RefSeq Acc Id: ENST00000571861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,188,223 - 80,196,030 (+)Ensembl
RefSeq Acc Id: ENST00000572838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,184,151 - 80,188,841 (+)Ensembl
RefSeq Acc Id: ENST00000573489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,170,003 - 80,179,133 (+)Ensembl
RefSeq Acc Id: ENST00000573754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,187,800 - 80,198,924 (+)Ensembl
RefSeq Acc Id: ENST00000573882   ⟹   ENSP00000458715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,170,012 - 80,209,331 (+)Ensembl
RefSeq Acc Id: ENST00000574148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,192,162 - 80,198,157 (+)Ensembl
RefSeq Acc Id: ENST00000575465   ⟹   ENSP00000459244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,170,034 - 80,181,649 (+)Ensembl
RefSeq Acc Id: ENST00000575500   ⟹   ENSP00000460883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,170,034 - 80,208,963 (+)Ensembl
RefSeq Acc Id: ENST00000575666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,192,380 - 80,197,532 (+)Ensembl
RefSeq Acc Id: ENST00000648128   ⟹   ENSP00000498004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,183,992 - 80,192,518 (+)Ensembl
RefSeq Acc Id: ENST00000648509   ⟹   ENSP00000498071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,170,030 - 80,209,331 (+)Ensembl
RefSeq Acc Id: ENST00000649277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,192,443 - 80,208,951 (+)Ensembl
RefSeq Acc Id: ENST00000650806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,170,063 - 80,197,426 (+)Ensembl
RefSeq Acc Id: ENST00000650867   ⟹   ENSP00000498570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,169,992 - 80,208,971 (+)Ensembl
RefSeq Acc Id: ENST00000651068   ⟹   ENSP00000498274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,170,452 - 80,208,964 (+)Ensembl
RefSeq Acc Id: ENST00000651388   ⟹   ENSP00000498956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,170,067 - 80,202,268 (+)Ensembl
RefSeq Acc Id: ENST00000651672   ⟹   ENSP00000499145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,170,055 - 80,209,330 (+)Ensembl
RefSeq Acc Id: ENST00000652599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,170,067 - 80,196,343 (+)Ensembl
RefSeq Acc Id: ENST00000703566   ⟹   ENSP00000515382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,169,992 - 80,209,331 (+)Ensembl
RefSeq Acc Id: ENST00000703567   ⟹   ENSP00000515383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,169,992 - 80,209,331 (+)Ensembl
RefSeq Acc Id: ENST00000703568   ⟹   ENSP00000515384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,170,034 - 80,208,963 (+)Ensembl
RefSeq Acc Id: ENST00000703569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,178,475 - 80,209,056 (+)Ensembl
RefSeq Acc Id: ENST00000703570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,192,416 - 80,216,073 (+)Ensembl
RefSeq Acc Id: ENST00000703571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,192,426 - 80,207,829 (+)Ensembl
RefSeq Acc Id: ENST00000703572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,201,830 - 80,208,953 (+)Ensembl
RefSeq Acc Id: ENST00000703573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,203,395 - 80,209,230 (+)Ensembl
RefSeq Acc Id: NM_001257970   ⟹   NP_001244899
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,178,508 - 80,202,631 (+)NCBI
GRCh371778,143,791 - 78,183,130 (+)NCBI
HuRef1773,584,235 - 73,623,399 (+)NCBI
CHM1_11778,238,536 - 78,262,592 (+)NCBI
T2T-CHM13v2.01781,078,918 - 81,103,038 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001366385   ⟹   NP_001353314
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,170,030 - 80,209,331 (+)NCBI
T2T-CHM13v2.01781,070,450 - 81,109,756 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024110   ⟹   NP_077015
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,178,508 - 80,209,331 (+)NCBI
GRCh371778,143,791 - 78,183,130 (+)NCBI
Build 361775,766,876 - 75,797,446 (+)NCBI Archive
Celera1774,781,528 - 74,812,042 (+)RGD
HuRef1773,584,235 - 73,623,399 (+)NCBI
CHM1_11778,238,536 - 78,269,309 (+)NCBI
T2T-CHM13v2.01781,078,918 - 81,109,756 (+)NCBI
Sequence:
RefSeq Acc Id: NM_052819   ⟹   NP_438170
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,187,800 - 80,198,924 (+)NCBI
GRCh371778,143,791 - 78,183,130 (+)NCBI
Build 361775,776,194 - 75,787,318 (+)NCBI Archive
Celera1774,781,528 - 74,812,042 (+)RGD
HuRef1773,584,235 - 73,623,399 (+)NCBI
CHM1_11778,247,829 - 78,258,953 (+)NCBI
T2T-CHM13v2.01781,088,150 - 81,099,327 (+)NCBI
Sequence:
RefSeq Acc Id: NR_047566
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,170,030 - 80,209,331 (+)NCBI
GRCh371778,143,791 - 78,183,130 (+)NCBI
HuRef1773,584,235 - 73,623,399 (+)NCBI
CHM1_11778,230,001 - 78,269,309 (+)NCBI
T2T-CHM13v2.01781,070,450 - 81,109,756 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525213   ⟹   XP_011523515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,170,030 - 80,209,331 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525216   ⟹   XP_011523518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,170,030 - 80,209,331 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525218   ⟹   XP_011523520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,170,057 - 80,209,331 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047436713   ⟹   XP_047292669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,170,030 - 80,209,331 (+)NCBI
RefSeq Acc Id: XM_047436714   ⟹   XP_047292670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,170,030 - 80,209,331 (+)NCBI
RefSeq Acc Id: XM_047436715   ⟹   XP_047292671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,172,906 - 80,209,331 (+)NCBI
RefSeq Acc Id: XM_047436716   ⟹   XP_047292672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,178,508 - 80,209,331 (+)NCBI
RefSeq Acc Id: XM_047436717   ⟹   XP_047292673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,172,906 - 80,209,331 (+)NCBI
RefSeq Acc Id: XM_047436718   ⟹   XP_047292674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,178,508 - 80,209,331 (+)NCBI
RefSeq Acc Id: XM_047436719   ⟹   XP_047292675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,170,030 - 80,209,331 (+)NCBI
RefSeq Acc Id: XM_047436720   ⟹   XP_047292676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,178,508 - 80,205,623 (+)NCBI
RefSeq Acc Id: XM_047436721   ⟹   XP_047292677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,178,508 - 80,202,631 (+)NCBI
RefSeq Acc Id: XM_047436722   ⟹   XP_047292678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,178,508 - 80,202,631 (+)NCBI
RefSeq Acc Id: XM_047436723   ⟹   XP_047292679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,178,508 - 80,198,526 (+)NCBI
RefSeq Acc Id: XM_054317150   ⟹   XP_054173125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01781,070,471 - 81,109,756 (+)NCBI
RefSeq Acc Id: XM_054317151   ⟹   XP_054173126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01781,073,328 - 81,109,756 (+)NCBI
RefSeq Acc Id: XM_054317152   ⟹   XP_054173127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01781,070,449 - 81,109,756 (+)NCBI
RefSeq Acc Id: XM_054317153   ⟹   XP_054173128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01781,078,918 - 81,109,756 (+)NCBI
RefSeq Acc Id: XM_054317154   ⟹   XP_054173129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01781,070,450 - 81,109,756 (+)NCBI
RefSeq Acc Id: XM_054317155   ⟹   XP_054173130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01781,070,412 - 81,109,756 (+)NCBI
RefSeq Acc Id: XM_054317156   ⟹   XP_054173131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01781,073,328 - 81,109,756 (+)NCBI
RefSeq Acc Id: XM_054317157   ⟹   XP_054173132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01781,078,918 - 81,109,756 (+)NCBI
RefSeq Acc Id: XM_054317158   ⟹   XP_054173133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01781,070,478 - 81,109,756 (+)NCBI
RefSeq Acc Id: XM_054317159   ⟹   XP_054173134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01781,070,477 - 81,109,756 (+)NCBI
RefSeq Acc Id: XM_054317160   ⟹   XP_054173135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01781,078,918 - 81,106,030 (+)NCBI
RefSeq Acc Id: XM_054317161   ⟹   XP_054173136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01781,078,918 - 81,103,038 (+)NCBI
RefSeq Acc Id: XM_054317162   ⟹   XP_054173137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01781,078,918 - 81,103,038 (+)NCBI
RefSeq Acc Id: XM_054317163   ⟹   XP_054173138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01781,078,918 - 81,098,929 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001244899 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353314 (Get FASTA)   NCBI Sequence Viewer  
  NP_077015 (Get FASTA)   NCBI Sequence Viewer  
  NP_438170 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523515 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523518 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523520 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292669 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292670 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292671 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292672 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292673 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292674 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292675 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292676 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292677 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292678 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292679 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173125 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173126 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173127 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173128 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173129 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173130 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173131 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173132 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173133 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173134 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173135 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173136 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173137 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173138 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189175 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189176 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189177 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189178 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189179 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189180 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189181 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189182 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189183 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189184 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189185 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189186 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189187 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189188 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG53403 (Get FASTA)   NCBI Sequence Viewer  
  AAH01326 (Get FASTA)   NCBI Sequence Viewer  
  AAH18142 (Get FASTA)   NCBI Sequence Viewer  
  AAK54453 (Get FASTA)   NCBI Sequence Viewer  
  ACF49506 (Get FASTA)   NCBI Sequence Viewer  
  BAG59342 (Get FASTA)   NCBI Sequence Viewer  
  EAW89586 (Get FASTA)   NCBI Sequence Viewer  
  EAW89587 (Get FASTA)   NCBI Sequence Viewer  
  EAW89588 (Get FASTA)   NCBI Sequence Viewer  
  EAW89589 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000344549
  ENSP00000344549.2
  ENSP00000458715
  ENSP00000458715.1
  ENSP00000459244.2
  ENSP00000460405.1
  ENSP00000460883.1
  ENSP00000461806
  ENSP00000461806.1
  ENSP00000498004.1
  ENSP00000498071
  ENSP00000498071.1
  ENSP00000498274
  ENSP00000498274.1
  ENSP00000498570
  ENSP00000498570.1
  ENSP00000498956.1
  ENSP00000499145
  ENSP00000499145.1
  ENSP00000515382
  ENSP00000515382.1
  ENSP00000515383.1
  ENSP00000515384.1
  ENSP00000516501.1
GenBank Protein Q9BXL6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_077015   ⟸   NM_024110
- Peptide Label: isoform 1
- UniProtKB: B8QQJ3 (UniProtKB/Swiss-Prot),   Q9BVB5 (UniProtKB/Swiss-Prot),   Q9BXL6 (UniProtKB/Swiss-Prot),   A0A494C1N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_438170   ⟸   NM_052819
- Peptide Label: isoform 2
- UniProtKB: B4DKY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244899   ⟸   NM_001257970
- Peptide Label: isoform 3
- UniProtKB: A0A494C199 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523515   ⟸   XM_011525213
- Peptide Label: isoform X1
- UniProtKB: B8QQJ3 (UniProtKB/Swiss-Prot),   Q9BVB5 (UniProtKB/Swiss-Prot),   Q9BXL6 (UniProtKB/Swiss-Prot),   A0A494C1N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523518   ⟸   XM_011525216
- Peptide Label: isoform X1
- UniProtKB: B8QQJ3 (UniProtKB/Swiss-Prot),   Q9BVB5 (UniProtKB/Swiss-Prot),   Q9BXL6 (UniProtKB/Swiss-Prot),   A0A494C1N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523520   ⟸   XM_011525218
- Peptide Label: isoform X1
- UniProtKB: B8QQJ3 (UniProtKB/Swiss-Prot),   Q9BVB5 (UniProtKB/Swiss-Prot),   Q9BXL6 (UniProtKB/Swiss-Prot),   A0A494C1N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001353314   ⟸   NM_001366385
- Peptide Label: isoform 1
- UniProtKB: Q9BXL6 (UniProtKB/Swiss-Prot),   B8QQJ3 (UniProtKB/Swiss-Prot),   Q9BVB5 (UniProtKB/Swiss-Prot),   A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000498004   ⟸   ENST00000648128
RefSeq Acc Id: ENSP00000498071   ⟸   ENST00000648509
RefSeq Acc Id: ENSP00000461806   ⟸   ENST00000570421
RefSeq Acc Id: ENSP00000460405   ⟸   ENST00000571450
RefSeq Acc Id: ENSP00000498570   ⟸   ENST00000650867
RefSeq Acc Id: ENSP00000499145   ⟸   ENST00000651672
RefSeq Acc Id: ENSP00000498956   ⟸   ENST00000651388
RefSeq Acc Id: ENSP00000498274   ⟸   ENST00000651068
RefSeq Acc Id: ENSP00000458715   ⟸   ENST00000573882
RefSeq Acc Id: ENSP00000459244   ⟸   ENST00000575465
RefSeq Acc Id: ENSP00000460883   ⟸   ENST00000575500
RefSeq Acc Id: ENSP00000344549   ⟸   ENST00000344227
RefSeq Acc Id: XP_047292669   ⟸   XM_047436713
- Peptide Label: isoform X1
- UniProtKB: Q9BXL6 (UniProtKB/Swiss-Prot),   B8QQJ3 (UniProtKB/Swiss-Prot),   Q9BVB5 (UniProtKB/Swiss-Prot),   A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292675   ⟸   XM_047436719
- Peptide Label: isoform X3
- UniProtKB: A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292670   ⟸   XM_047436714
- Peptide Label: isoform X1
- UniProtKB: Q9BXL6 (UniProtKB/Swiss-Prot),   B8QQJ3 (UniProtKB/Swiss-Prot),   Q9BVB5 (UniProtKB/Swiss-Prot),   A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292671   ⟸   XM_047436715
- Peptide Label: isoform X1
- UniProtKB: Q9BXL6 (UniProtKB/Swiss-Prot),   B8QQJ3 (UniProtKB/Swiss-Prot),   Q9BVB5 (UniProtKB/Swiss-Prot),   A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292673   ⟸   XM_047436717
- Peptide Label: isoform X1
- UniProtKB: Q9BXL6 (UniProtKB/Swiss-Prot),   B8QQJ3 (UniProtKB/Swiss-Prot),   Q9BVB5 (UniProtKB/Swiss-Prot),   A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292672   ⟸   XM_047436716
- Peptide Label: isoform X1
- UniProtKB: Q9BXL6 (UniProtKB/Swiss-Prot),   B8QQJ3 (UniProtKB/Swiss-Prot),   Q9BVB5 (UniProtKB/Swiss-Prot),   A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292674   ⟸   XM_047436718
- Peptide Label: isoform X2
- UniProtKB: A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292676   ⟸   XM_047436720
- Peptide Label: isoform X4
- UniProtKB: A0A494C0J4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292677   ⟸   XM_047436721
- Peptide Label: isoform X5
- UniProtKB: A0A494C199 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292678   ⟸   XM_047436722
- Peptide Label: isoform X6
- UniProtKB: A0A994J6G4 (UniProtKB/TrEMBL),   A0A494C199 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292679   ⟸   XM_047436723
- Peptide Label: isoform X7
- UniProtKB: A0A494BZY0 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000515384   ⟸   ENST00000703568
RefSeq Acc Id: ENSP00000515383   ⟸   ENST00000703567
RefSeq Acc Id: ENSP00000515382   ⟸   ENST00000703566
RefSeq Acc Id: XP_054173130   ⟸   XM_054317155
- Peptide Label: isoform X1
- UniProtKB: A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173127   ⟸   XM_054317152
- Peptide Label: isoform X1
- UniProtKB: A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173129   ⟸   XM_054317154
- Peptide Label: isoform X1
- UniProtKB: A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173125   ⟸   XM_054317150
- Peptide Label: isoform X1
- UniProtKB: A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173134   ⟸   XM_054317159
- Peptide Label: isoform X1
- UniProtKB: A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173133   ⟸   XM_054317158
- Peptide Label: isoform X1
- UniProtKB: A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173126   ⟸   XM_054317151
- Peptide Label: isoform X1
- UniProtKB: A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173131   ⟸   XM_054317156
- Peptide Label: isoform X1
- UniProtKB: A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173128   ⟸   XM_054317153
- Peptide Label: isoform X1
- UniProtKB: A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173132   ⟸   XM_054317157
- Peptide Label: isoform X2
- UniProtKB: A0A494C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173135   ⟸   XM_054317160
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054173136   ⟸   XM_054317161
- Peptide Label: isoform X5
- UniProtKB: A0A494C199 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173137   ⟸   XM_054317162
- Peptide Label: isoform X6
- UniProtKB: A0A494C199 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173138   ⟸   XM_054317163
- Peptide Label: isoform X7
- UniProtKB: A0A494BZY0 (UniProtKB/TrEMBL)
Protein Domains
CARD   Guanylate kinase-like   PDZ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BXL6-F1-model_v2 AlphaFold Q9BXL6 1-1004 view protein structure

Promoters
RGD ID:6793833
Promoter ID:HG_KWN:27316
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000344227,   ENST00000392434,   UC002JXV.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361775,766,566 - 75,767,066 (+)MPROMDB
RGD ID:6793835
Promoter ID:HG_KWN:27317
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_052819,   UC010DHU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361775,775,831 - 75,776,331 (+)MPROMDB
RGD ID:7236563
Promoter ID:EPDNEW_H24026
Type:initiation region
Name:CARD14_1
Description:caspase recruitment domain family member 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,178,458 - 80,178,518EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16446 AgrOrtholog
COSMIC CARD14 COSMIC
Ensembl Genes ENSG00000141527 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000344227 ENTREZGENE
  ENST00000344227.6 UniProtKB/Swiss-Prot
  ENST00000570421 ENTREZGENE
  ENST00000570421.5 UniProtKB/Swiss-Prot
  ENST00000571427.2 UniProtKB/Swiss-Prot
  ENST00000571450.1 UniProtKB/TrEMBL
  ENST00000573754 ENTREZGENE
  ENST00000573882 ENTREZGENE
  ENST00000573882.5 UniProtKB/Swiss-Prot
  ENST00000575465.6 UniProtKB/TrEMBL
  ENST00000575500 ENTREZGENE
  ENST00000575500.5 UniProtKB/TrEMBL
  ENST00000648128.1 UniProtKB/TrEMBL
  ENST00000648509 ENTREZGENE
  ENST00000648509.2 UniProtKB/Swiss-Prot
  ENST00000650867 ENTREZGENE
  ENST00000650867.1 UniProtKB/TrEMBL
  ENST00000651068 ENTREZGENE
  ENST00000651068.1 UniProtKB/TrEMBL
  ENST00000651388.1 UniProtKB/TrEMBL
  ENST00000651672 ENTREZGENE
  ENST00000651672.1 UniProtKB/TrEMBL
  ENST00000703566 ENTREZGENE
  ENST00000703566.1 UniProtKB/TrEMBL
  ENST00000703567.1 UniProtKB/TrEMBL
  ENST00000703568.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000141527 GTEx
HGNC ID HGNC:16446 ENTREZGENE
Human Proteome Map CARD14 Human Proteome Map
InterPro CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEATH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_kin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79092 UniProtKB/Swiss-Prot
NCBI Gene 79092 ENTREZGENE
OMIM 607211 OMIM
PANTHER CASPASE RECRUITMENT DOMAIN FAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134959119 PharmGKB
PROSITE CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_KINASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47986 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3ITQ9_HUMAN UniProtKB/TrEMBL
  A0A494BZY0 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C0J4 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C199 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C1N2 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J6G4 ENTREZGENE, UniProtKB/TrEMBL
  B4DKY0 ENTREZGENE, UniProtKB/TrEMBL
  B8QQJ3 ENTREZGENE
  CAR14_HUMAN UniProtKB/Swiss-Prot
  I3L1Z7_HUMAN UniProtKB/TrEMBL
  I3L3F1_HUMAN UniProtKB/TrEMBL
  I3L414_HUMAN UniProtKB/TrEMBL
  Q9BVB5 ENTREZGENE
  Q9BXL6 ENTREZGENE
UniProt Secondary B8QQJ3 UniProtKB/Swiss-Prot
  Q9BVB5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 CARD14  caspase recruitment domain family member 14  PSORS2  psoriasis susceptibility 2  Data merged from RGD:1342831 737654 PROVISIONAL
2015-11-24 CARD14  caspase recruitment domain family member 14    caspase recruitment domain family, member 14  Symbol and/or name change 5135510 APPROVED