KRIT1 (KRIT1 ankyrin repeat containing) - Rat Genome Database

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Gene: KRIT1 (KRIT1 ankyrin repeat containing) Homo sapiens
Analyze
Symbol: KRIT1
Name: KRIT1 ankyrin repeat containing
RGD ID: 1314251
HGNC Page HGNC:1573
Description: Enables microtubule binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in several processes, including cell redox homeostasis; integrin activation; and negative regulation of endothelial cell apoptotic process. Located in cell-cell junction and plasma membrane. Implicated in cerebral cavernous malformation and cerebral cavernous malformation 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ankyrin repeat-containing protein Krit1; CAM; CCM1; cerebral cavernous malformations 1; krev interaction trapped 1; krev interaction trapped protein 1; KRIT1, ankyrin repeat containing
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38792,198,969 - 92,246,100 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl792,197,498 - 92,246,166 (-)EnsemblGRCh38hg38GRCh38
GRCh37791,828,283 - 91,875,414 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36791,666,219 - 91,713,350 (-)NCBINCBI36Build 36hg18NCBI36
Build 34791,472,933 - 91,520,065NCBI
Celera786,532,835 - 86,579,965 (-)NCBICelera
Cytogenetic Map7q21.2NCBI
HuRef786,435,945 - 86,483,492 (-)NCBIHuRef
CHM1_1791,758,320 - 91,805,450 (-)NCBICHM1_1
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2791,157,516 - 91,204,647 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Integrin inactivators: balancing cellular functions in vitro and in vivo. Bouvard D, etal., Nat Rev Mol Cell Biol. 2013 Jul;14(7):430-42. doi: 10.1038/nrm3599. Epub 2013 May 30.
2. Talins and kindlins: partners in integrin-mediated adhesion. Calderwood DA, etal., Nat Rev Mol Cell Biol. 2013 Aug;14(8):503-17. doi: 10.1038/nrm3624. Epub 2013 Jul 17.
3. Clinical features of cerebral cavernous malformations patients with KRIT1 mutations. Denier C, etal., Ann Neurol 2004 Feb;55(2):213-20.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. CCM1 mutation screen of sporadic cases with cerebral cavernous malformations. Verlaan DJ, etal., Neurology. 2004 Apr 13;62(7):1213-5.
Additional References at PubMed
PMID:7604043   PMID:8530042   PMID:9285558   PMID:10508515   PMID:10545614   PMID:10747990   PMID:10814716   PMID:11161791   PMID:11161805   PMID:11342228   PMID:11741838   PMID:11831930  
PMID:11854171   PMID:11914398   PMID:11941540   PMID:12140362   PMID:12172908   PMID:12204286   PMID:12477932   PMID:12682320   PMID:12690205   PMID:12724311   PMID:12810002   PMID:12821674  
PMID:12853948   PMID:12877753   PMID:12911633   PMID:12925680   PMID:14702039   PMID:15046662   PMID:15489334   PMID:15718512   PMID:16037064   PMID:16239636   PMID:16321204   PMID:16373645  
PMID:16529293   PMID:16712798   PMID:16769843   PMID:17043900   PMID:17148043   PMID:17290187   PMID:17440989   PMID:17562932   PMID:17568776   PMID:17657516   PMID:17916086   PMID:17954608  
PMID:18300272   PMID:18812969   PMID:19088123   PMID:19088124   PMID:19092252   PMID:19182478   PMID:19199464   PMID:19453802   PMID:19454328   PMID:19833796   PMID:20301470   PMID:20306072  
PMID:20308363   PMID:20332120   PMID:20379614   PMID:20419355   PMID:20616044   PMID:20668652   PMID:20689144   PMID:20798775   PMID:20884211   PMID:21029238   PMID:21633110   PMID:21873635  
PMID:22577140   PMID:22658674   PMID:22664934   PMID:22699465   PMID:23007647   PMID:23317506   PMID:23485406   PMID:23584803   PMID:23695561   PMID:23814056   PMID:23872064   PMID:24007869  
PMID:24058906   PMID:24291398   PMID:24466005   PMID:24705002   PMID:24714220   PMID:25059659   PMID:25086949   PMID:25185960   PMID:25203678   PMID:25320085   PMID:25413039   PMID:25525273  
PMID:25707093   PMID:25814554   PMID:25910212   PMID:25923142   PMID:26356566   PMID:26643368   PMID:26780829   PMID:27027284   PMID:27649701   PMID:28000143   PMID:28003363   PMID:28160210  
PMID:28255959   PMID:28318403   PMID:28514442   PMID:28700943   PMID:28867399   PMID:28870584   PMID:29169046   PMID:29170092   PMID:29787619   PMID:30161288   PMID:30314744   PMID:30475086  
PMID:31446422   PMID:31455779   PMID:31871319   PMID:31937560   PMID:32100472   PMID:32186778   PMID:32296183   PMID:32414810   PMID:32735866   PMID:33443102   PMID:33604894   PMID:33651268  
PMID:33961781   PMID:34079125   PMID:34088891   PMID:35271311   PMID:35914814   PMID:35945219   PMID:36215168   PMID:36892712   PMID:37071682   PMID:38795261  


Genomics

Comparative Map Data
KRIT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38792,198,969 - 92,246,100 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl792,197,498 - 92,246,166 (-)EnsemblGRCh38hg38GRCh38
GRCh37791,828,283 - 91,875,414 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36791,666,219 - 91,713,350 (-)NCBINCBI36Build 36hg18NCBI36
Build 34791,472,933 - 91,520,065NCBI
Celera786,532,835 - 86,579,965 (-)NCBICelera
Cytogenetic Map7q21.2NCBI
HuRef786,435,945 - 86,483,492 (-)NCBIHuRef
CHM1_1791,758,320 - 91,805,450 (-)NCBICHM1_1
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2791,157,516 - 91,204,647 (-)NCBI
Krit1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3953,853,156 - 3,894,515 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl53,853,184 - 3,895,564 (+)EnsemblGRCm39 Ensembl
GRCm3853,803,156 - 3,844,515 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl53,803,184 - 3,845,564 (+)EnsemblGRCm38mm10GRCm38
MGSCv3753,803,165 - 3,844,515 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3653,809,195 - 3,847,365 (+)NCBIMGSCv36mm8
Celera53,739,452 - 3,780,804 (+)NCBICelera
Cytogenetic Map5A1NCBI
cM Map52.26NCBI
Krit1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8431,253,918 - 31,288,066 (-)NCBIGRCr8
mRatBN7.2430,299,203 - 30,333,366 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl430,299,203 - 30,333,359 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx435,271,948 - 35,306,096 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0431,198,032 - 31,232,180 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0429,594,018 - 29,628,167 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0427,438,609 - 27,473,150 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl427,438,609 - 27,473,150 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0427,341,835 - 27,376,376 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4427,014,488 - 27,048,636 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera425,724,169 - 25,758,310 (-)NCBICelera
Cytogenetic Map4q13NCBI
Krit1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554329,171,216 - 9,219,946 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554329,168,678 - 9,219,947 (-)NCBIChiLan1.0ChiLan1.0
KRIT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26110,085,447 - 110,131,571 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17158,350,089 - 158,396,176 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0784,197,200 - 84,244,050 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1797,794,527 - 97,841,099 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl797,794,531 - 97,840,895 (-)Ensemblpanpan1.1panPan2
KRIT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11417,836,513 - 17,872,514 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1417,832,625 - 17,872,190 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1417,398,065 - 17,433,896 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01417,643,248 - 17,679,106 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1417,643,248 - 17,679,291 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11417,803,905 - 17,839,882 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01417,516,013 - 17,552,078 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01417,789,641 - 17,825,471 (-)NCBIUU_Cfam_GSD_1.0
Krit1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511831,240,278 - 31,280,063 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366212,088,802 - 2,128,657 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366212,088,606 - 2,128,579 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KRIT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl972,142,835 - 72,185,661 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1972,143,652 - 72,184,774 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2978,874,130 - 78,913,770 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KRIT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12156,770,694 - 56,816,409 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2156,774,487 - 56,816,049 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604247,456,063 - 47,502,978 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Krit1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624809978,789 - 1,039,091 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624809978,391 - 1,036,313 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KRIT1
629 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_194454.3(KRIT1):c.451A>G (p.Thr151Ala) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001158902]|Cerebral cavernous malformation [RCV000548648]|KRIT1-related disorder [RCV004755962] Chr7:92236447 [GRCh38]
Chr7:91865761 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.730-2A>G single nucleotide variant Cerebral cavernous malformation [RCV000549458] Chr7:92234925 [GRCh38]
Chr7:91864239 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1765A>T (p.Lys589Ter) single nucleotide variant Cerebral cavernous malformation [RCV001857981]|not provided [RCV000520371] Chr7:92213945 [GRCh38]
Chr7:91843259 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter) single nucleotide variant Cerebral cavernous malformation 1 [RCV000006075]|Cerebral cavernous malformation [RCV000239441]|KRIT1-related disorder [RCV004547460]|not provided [RCV000256079]|not specified [RCV000506458] Chr7:92222870 [GRCh38]
Chr7:91852184 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.782C>G (p.Ser261Ter) single nucleotide variant Cerebral cavernous malformation [RCV000525590] Chr7:92234871 [GRCh38]
Chr7:91864185 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1412-1G>T single nucleotide variant Cerebral cavernous malformation [RCV000545634] Chr7:92222054 [GRCh38]
Chr7:91851368 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.500G>A (p.Arg167His) single nucleotide variant Cerebral cavernous malformation [RCV000524804] Chr7:92235632 [GRCh38]
Chr7:91864946 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1879C>T (p.Gln627Ter) single nucleotide variant Cerebral cavernous malformation 1 [RCV000006072]|Cerebral cavernous malformation [RCV002512817] Chr7:92213341 [GRCh38]
Chr7:91842655 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1940del (p.Lys647fs) deletion Cerebral cavernous malformation 1 [RCV000006073] Chr7:92213280 [GRCh38]
Chr7:91842594 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1867dup (p.Arg623fs) duplication Cerebral cavernous malformation 1 [RCV000006074] Chr7:92213352..92213353 [GRCh38]
Chr7:91842666..91842667 [GRCh37]
Chr7:7q21.2		 pathogenic
KRIT1, 1-BP DEL, 103G deletion Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations [RCV000006076] Chr7:7q11.2-q21 pathogenic
NM_194454.3(KRIT1):c.845+2T>C single nucleotide variant Cerebral cavernous malformation 1 [RCV000006077]|Cerebral cavernous malformation [RCV003444193] Chr7:92234806 [GRCh38]
Chr7:91864120 [GRCh37]
Chr7:7q21.2		 pathogenic
KRIT1, 2-BP DEL, 741TC deletion Cerebral cavernous malformations 1 [RCV000006078] Chr7:7q11.2-q21 pathogenic
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly) single nucleotide variant Cerebral cavernous malformation 1 [RCV000006079]|Cerebral cavernous malformation [RCV001822994] Chr7:92236488 [GRCh38]
Chr7:91865802 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu) single nucleotide variant Cerebral cavernous malformation 1 [RCV000006080]|Cerebral cavernous malformation [RCV003522917]|not provided [RCV000522732] Chr7:92235531 [GRCh38]
Chr7:91864845 [GRCh37]
Chr7:7q21.2		 pathogenic
KRIT1, 1-BP INS, 1374C insertion Cavernous malformations of CNS and retina [RCV000006081] Chr7:7q11.2-q21 pathogenic
NM_194454.3(KRIT1):c.987C>A (p.Cys329Ter) single nucleotide variant Cerebral cavernous malformation 1 [RCV000006082]|Cerebral cavernous malformation [RCV000239438] Chr7:92234451 [GRCh38]
Chr7:91863765 [GRCh37]
Chr7:7q21.2		 pathogenic|not provided
NM_194454.3(KRIT1):c.702T>C (p.Phe234=) single nucleotide variant not specified [RCV000516900] Chr7:92235430 [GRCh38]
Chr7:91864744 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1823_1824del (p.Leu608fs) microsatellite not provided [RCV000519283] Chr7:92213396..92213397 [GRCh38]
Chr7:91842710..91842711 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.990G>A (p.Trp330Ter) single nucleotide variant Cerebral cavernous malformation [RCV000526370] Chr7:92226682 [GRCh38]
Chr7:91855996 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1849G>T (p.Glu617Ter) single nucleotide variant not provided [RCV000517741] Chr7:92213371 [GRCh38]
Chr7:91842685 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1146+1G>A single nucleotide variant Cerebral cavernous malformation [RCV002518752]|not provided [RCV000254945] Chr7:92226525 [GRCh38]
Chr7:91855839 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1084del (p.Ala362fs) deletion Cerebral cavernous malformation [RCV001065756]|not provided [RCV000516664] Chr7:92226588 [GRCh38]
Chr7:91855902 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.730G>T (p.Val244Leu) single nucleotide variant not provided [RCV000521722] Chr7:92234923 [GRCh38]
Chr7:91864237 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.1134A>T (p.Pro378=) single nucleotide variant Cerebral cavernous malformation [RCV000526880]|Inborn genetic diseases [RCV003372749] Chr7:92226538 [GRCh38]
Chr7:91855852 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1854dup (p.His619fs) duplication Cerebral cavernous malformation [RCV001197020] Chr7:92213365..92213366 [GRCh38]
Chr7:91842679..91842680 [GRCh37]
Chr7:7q21.2		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
NM_194454.3(KRIT1):c.1151_1152insG (p.Ile384fs) insertion not provided [RCV001291552] Chr7:92225822..92225823 [GRCh38]
Chr7:91855136..91855137 [GRCh37]
Chr7:7q21.2		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1 copy number loss See cases [RCV000143271] Chr7:84002634..95228883 [GRCh38]
Chr7:83631950..94858195 [GRCh37]
Chr7:83469886..94696131 [NCBI36]
Chr7:7q21.11-21.3		 pathogenic
NM_194454.3(KRIT1):c.1731-2A>G single nucleotide variant Cerebral cavernous malformation [RCV001808723]|not provided [RCV000255059] Chr7:92213981 [GRCh38]
Chr7:91843295 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1807del (p.His603fs) deletion Cerebral cavernous malformation [RCV001065731]|not provided [RCV000255125]|not specified [RCV001000642] Chr7:92213903 [GRCh38]
Chr7:91843217 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter) single nucleotide variant Cerebral cavernous malformation [RCV000552103]|KRIT1-related disorder [RCV004547646]|not provided [RCV000255480] Chr7:92222966 [GRCh38]
Chr7:91852280 [GRCh37]
Chr7:7q21.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000378263]|Cerebral cavernous malformation [RCV000318995]|Inborn genetic diseases [RCV002379094]|not specified [RCV000248450] Chr7:92222907 [GRCh38]
Chr7:91852221 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_194454.3(KRIT1):c.1411+20_1411+24del deletion Cerebral cavernous malformation [RCV002518666]|not specified [RCV000253629] Chr7:92222798..92222802 [GRCh38]
Chr7:91852112..91852116 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.152_155del (p.Lys51fs) deletion Cerebral cavernous malformation [RCV000808275]|Hereditary cavernous hemangioma of brain [RCV003993910]|KRIT1-related disorder [RCV004547645]|not provided [RCV000255933] Chr7:92241100..92241103 [GRCh38]
Chr7:91870414..91870417 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1752C>T (p.Ile584=) single nucleotide variant Cerebral cavernous malformation [RCV002058469]|Inborn genetic diseases [RCV003372674]|not provided [RCV004706748]|not specified [RCV000245463] Chr7:92213958 [GRCh38]
Chr7:91843272 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1245T>G (p.Ile415Met) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000283819]|Cerebral cavernous malformation [RCV000343551]|Inborn genetic diseases [RCV002392920]|not provided [RCV000721826]|not specified [RCV001700011] Chr7:92225729 [GRCh38]
Chr7:91855043 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194456.1(KRIT1):c.*1444T>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000382791]|Cerebral cavernous malformation [RCV000288459] Chr7:92199292 [GRCh38]
Chr7:91828606 [GRCh37]
Chr7:7q21.2		 benign
NM_019004.2(ANKIB1):c.-605T>C single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000307115]|Cerebral cavernous malformation [RCV000394530]|not provided [RCV003221956] Chr7:92246005 [GRCh38]
Chr7:91875319 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.1063C>T (p.Leu355Phe) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000369873]|Cerebral cavernous malformation [RCV000261141] Chr7:92226609 [GRCh38]
Chr7:91855923 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_194454.3(KRIT1):c.1139C>T (p.Thr380Met) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000368618]|Cerebral cavernous malformation [RCV000309247] Chr7:92226533 [GRCh38]
Chr7:91855847 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_194454.3(KRIT1):c.1412-9G>A single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000371443]|Cerebral cavernous malformation [RCV000281648]|not specified [RCV000614139] Chr7:92222062 [GRCh38]
Chr7:91851376 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.-312A>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000298591]|Cerebral cavernous malformation [RCV000334812] Chr7:92245063 [GRCh38]
Chr7:91874377 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000266475]|Cerebral cavernous malformation [RCV000379704]|KRIT1-related disorder [RCV004549823]|not provided [RCV000721899] Chr7:92242059 [GRCh38]
Chr7:91871373 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_194454.3(KRIT1):c.-421+240C>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000325676]|Cerebral cavernous malformation [RCV000270573] Chr7:92245550 [GRCh38]
Chr7:91874864 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.*371_*372insG insertion Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000272660]|Cerebral cavernous malformation [RCV000327714] Chr7:92200364..92200365 [GRCh38]
Chr7:91829678..91829679 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.-394C>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000264517]|Cerebral cavernous malformation [RCV000359306] Chr7:92245145 [GRCh38]
Chr7:91874459 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.-538C>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000279229]|Cerebral cavernous malformation [RCV000371484] Chr7:92245907 [GRCh38]
Chr7:91875221 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.-529C>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000294635]|Cerebral cavernous malformation [RCV000351931] Chr7:92245898 [GRCh38]
Chr7:91875212 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1362_1363del (p.Gln455fs) microsatellite Cerebral cavernous malformation 1 [RCV001807642]|Cerebral cavernous malformation [RCV000552882]|not provided [RCV000721835] Chr7:92222870..92222871 [GRCh38]
Chr7:91852184..91852185 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.*62A>C single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000310574]|Cerebral cavernous malformation [RCV000402022] Chr7:92200674 [GRCh38]
Chr7:91829988 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.*578A>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000300683]|Cerebral cavernous malformation [RCV000355559] Chr7:92200158 [GRCh38]
Chr7:91829472 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.937dup (p.Ser313fs) duplication Cerebral cavernous malformation [RCV001061598]|not provided [RCV000598556] Chr7:92234500..92234501 [GRCh38]
Chr7:91863814..91863815 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.1146+3_1146+4del deletion not provided [RCV000598757] Chr7:92226522..92226523 [GRCh38]
Chr7:91855836..91855837 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1970dup (p.Val658fs) duplication not provided [RCV000599111] Chr7:92213249..92213250 [GRCh38]
Chr7:91842563..91842564 [GRCh37]
Chr7:7q21.2		 pathogenic
NC_000007.14:g.(?_92240973)_(92242155_?)del deletion Cerebral cavernous malformation [RCV000550748] Chr7:92240973..92242155 [GRCh38]
Chr7:91870287..91871469 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.729+2T>C single nucleotide variant Cerebral cavernous malformation [RCV000593246] Chr7:92235401 [GRCh38]
Chr7:91864715 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1545del (p.Leu516fs) deletion Cerebral cavernous malformation [RCV000529814] Chr7:92221920 [GRCh38]
Chr7:91851234 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) microsatellite Cerebral cavernous malformation [RCV000415415]|KRIT1-related disorder [RCV004755910] Chr7:92241108..92241109 [GRCh38]
Chr7:91870422..91870423 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs) deletion Cerebral cavernous malformation [RCV002470851]|not provided [RCV000413088] Chr7:92221937..92221941 [GRCh38]
Chr7:91851251..91851255 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.29C>G (p.Ala10Gly) single nucleotide variant not specified [RCV000412729] Chr7:92242107 [GRCh38]
Chr7:91871421 [GRCh37]
Chr7:7q21.2		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
NM_194454.3(KRIT1):c.301G>A (p.Gly101Arg) single nucleotide variant Cerebral cavernous malformation [RCV002519528]|KRIT1-related disorder [RCV004551445]|not provided [RCV000427958] Chr7:92237721 [GRCh38]
Chr7:91867035 [GRCh37]
Chr7:7q21.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_194454.3(KRIT1):c.1579G>A (p.Ala527Thr) single nucleotide variant not provided [RCV000494397] Chr7:92214762 [GRCh38]
Chr7:91844076 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1890G>A (p.Trp630Ter) single nucleotide variant Cerebral cavernous malformation [RCV000547853]|not specified [RCV000506594] Chr7:92213330 [GRCh38]
Chr7:91842644 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2119_2120del (p.Ser707fs) deletion Cerebral cavernous malformation [RCV000624958] Chr7:92201329..92201330 [GRCh38]
Chr7:91830643..91830644 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1702_1703del (p.Glu567_Ser568insTer) microsatellite Cerebral cavernous malformation [RCV000559053]|not provided [RCV000721853] Chr7:92214638..92214639 [GRCh38]
Chr7:91843952..91843953 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.976_979dup (p.Tyr327fs) microsatellite Cerebral cavernous malformation [RCV000644429] Chr7:92234458..92234459 [GRCh38]
Chr7:91863772..91863773 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1819-12G>C single nucleotide variant Cerebral cavernous malformation [RCV002066607]|not specified [RCV000609335] Chr7:92213413 [GRCh38]
Chr7:91842727 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NC_000007.14:g.(?_92225700)_(92226702_?)del deletion Cerebral cavernous malformation [RCV000644431] Chr7:92225700..92226702 [GRCh38]
Chr7:91855014..91856016 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1204_1208del (p.Asn402fs) microsatellite Cerebral cavernous malformation [RCV000686135] Chr7:92225766..92225770 [GRCh38]
Chr7:91855080..91855084 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.587del (p.Ala196fs) deletion not provided [RCV000721889] Chr7:92235545 [GRCh38]
Chr7:91864859 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.802C>T (p.Gln268Ter) single nucleotide variant Cerebral cavernous malformation [RCV003144183]|not provided [RCV000255382] Chr7:92234851 [GRCh38]
Chr7:91864165 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NC_000007.13:g.(?_91863763)_(91871451_?)del deletion Cerebral cavernous malformation [RCV000526119] Chr7:91863763..91871451 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.815A>G (p.Gln272Arg) single nucleotide variant not provided [RCV000757424] Chr7:92234838 [GRCh38]
Chr7:91864152 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1775del (p.Ser592fs) deletion not provided [RCV000757425] Chr7:92213935 [GRCh38]
Chr7:91843249 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1683_1695del (p.Val562fs) deletion Cerebral cavernous malformation [RCV000546982] Chr7:92214646..92214658 [GRCh38]
Chr7:91843960..91843972 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1360_1363del (p.Ser454fs) microsatellite not provided [RCV000519573] Chr7:92222870..92222873 [GRCh38]
Chr7:91852184..91852187 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.690C>G (p.Tyr230Ter) single nucleotide variant not provided [RCV000578873] Chr7:92235442 [GRCh38]
Chr7:91864756 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.486-1G>A single nucleotide variant not provided [RCV000518796] Chr7:92235647 [GRCh38]
Chr7:91864961 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.355+29_355+30del deletion not specified [RCV000246009] Chr7:92237637..92237638 [GRCh38]
Chr7:91866951..91866952 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1980A>G (p.Val660=) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000275757]|Cerebral cavernous malformation [RCV000316905]|not provided [RCV000711046]|not specified [RCV000242381] Chr7:92213240 [GRCh38]
Chr7:91842554 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.510A>G (p.Gln170=) single nucleotide variant Cerebral cavernous malformation [RCV001451545]|Inborn genetic diseases [RCV003298328]|not specified [RCV000242943] Chr7:92235622 [GRCh38]
Chr7:91864936 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000344666]|Cerebral cavernous malformation [RCV000396097]|Inborn genetic diseases [RCV002450787]|not provided [RCV000721821]|not specified [RCV000245338] Chr7:92226532 [GRCh38]
Chr7:91855846 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NC_000007.14:g.(?_92213175)_(92242155_?)del deletion Cerebral cavernous malformation [RCV000549978] Chr7:92213175..92242155 [GRCh38]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1369A>G (p.Thr457Ala) single nucleotide variant Inborn genetic diseases [RCV004023580]|not provided [RCV000521974] Chr7:92222864 [GRCh38]
Chr7:91852178 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1809T>C (p.His603=) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001158796]|Cerebral cavernous malformation [RCV001087175]|Inborn genetic diseases [RCV002411130]|not specified [RCV000250617] Chr7:92213901 [GRCh38]
Chr7:91843215 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000315082]|Cerebral cavernous malformation [RCV000401398]|Inborn genetic diseases [RCV002450786]|not provided [RCV000721819]|not specified [RCV000253123] Chr7:92226577 [GRCh38]
Chr7:91855891 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_194454.3(KRIT1):c.486-37C>G single nucleotide variant not provided [RCV004705128]|not specified [RCV000250764] Chr7:92235683 [GRCh38]
Chr7:91864997 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.*320C>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000333374]|Cerebral cavernous malformation [RCV000387946]|not provided [RCV004712417] Chr7:92200416 [GRCh38]
Chr7:91829730 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.*141C>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000284634]|Cerebral cavernous malformation [RCV000394461]|KRIT1-related disorder [RCV004549819]|not provided [RCV002275014] Chr7:92200595 [GRCh38]
Chr7:91829909 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194456.1(KRIT1):c.*1702A>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000377120]|Cerebral cavernous malformation [RCV000322556] Chr7:92199034 [GRCh38]
Chr7:91828348 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.846-5dup duplication Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000357228]|Cerebral cavernous malformation [RCV000316426]|KRIT1-related disorder [RCV004549822]|not provided [RCV000721904] Chr7:92234596..92234597 [GRCh38]
Chr7:91863910..91863911 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_194456.1(KRIT1):c.-680G>A single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000342319]|Cerebral cavernous malformation [RCV000303752]|not provided [RCV004712418]|not specified [RCV000721815] Chr7:92245996 [GRCh38]
Chr7:91875310 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.*132T>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000304668]|Cerebral cavernous malformation [RCV000364001]|KRIT1-related disorder [RCV004549821]|not provided [RCV002275015] Chr7:92200604 [GRCh38]
Chr7:91829918 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_194454.3(KRIT1):c.-2-7T>C single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000326139]|Cerebral cavernous malformation [RCV000380790]|KRIT1-related disorder [RCV004549824] Chr7:92242144 [GRCh38]
Chr7:91871458 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194456.1(KRIT1):c.-701C>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000272135]|Cerebral cavernous malformation [RCV000364372]|not provided [RCV000721816] Chr7:92246017 [GRCh38]
Chr7:91875331 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.-421+190G>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000384932]|Cerebral cavernous malformation [RCV000272483] Chr7:92245600 [GRCh38]
Chr7:91874914 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_194454.3(KRIT1):c.1146+8A>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000396102]|Cerebral cavernous malformation [RCV000289731]|not provided [RCV004705447] Chr7:92226518 [GRCh38]
Chr7:91855832 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.-43C>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000345963]|Cerebral cavernous malformation [RCV000291073] Chr7:92244042 [GRCh38]
Chr7:91873356 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.2074GATACT[1] (p.692DT[1]) microsatellite Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000370385]|Cerebral cavernous malformation [RCV000329788] Chr7:92201364..92201369 [GRCh38]
Chr7:91830678..91830683 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.-525G>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000386656]|Cerebral cavernous malformation [RCV000329870] Chr7:92245894 [GRCh38]
Chr7:91875208 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.*57G>A single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000274711]|Cerebral cavernous malformation [RCV000365313] Chr7:92200679 [GRCh38]
Chr7:91829993 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194456.1(KRIT1):c.-741C>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000367799]|Cerebral cavernous malformation [RCV000310747]|not provided [RCV004712419] Chr7:92246057 [GRCh38]
Chr7:91875371 [GRCh37]
Chr7:7q21.2		 benign
NM_194456.1(KRIT1):c.*1363T>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000293924]|Cerebral cavernous malformation [RCV000348872]|not provided [RCV003311787] Chr7:92199373 [GRCh38]
Chr7:91828687 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194456.1(KRIT1):c.*1750C>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000262613]|Cerebral cavernous malformation [RCV000357500] Chr7:92198986 [GRCh38]
Chr7:91828300 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194456.1(KRIT1):c.*1335T>C single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000395370]|Cerebral cavernous malformation [RCV000313998] Chr7:92199401 [GRCh38]
Chr7:91828715 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.*885A>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000398626]|Cerebral cavernous malformation [RCV000336288] Chr7:92199851 [GRCh38]
Chr7:91829165 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194456.1(KRIT1):c.-628T>A single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000394322]|Cerebral cavernous malformation [RCV000336736] Chr7:92245944 [GRCh38]
Chr7:91875258 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194456.1(KRIT1):c.*1385A>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000383665]|Cerebral cavernous malformation [RCV000347803]|not provided [RCV004712416] Chr7:92199351 [GRCh38]
Chr7:91828665 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.*272G>A single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000334733]|Cerebral cavernous malformation [RCV000279722]|not provided [RCV001597122] Chr7:92200464 [GRCh38]
Chr7:91829778 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.*137del deletion Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000401065]|Cerebral cavernous malformation [RCV000339537]|KRIT1-related disorder [RCV004549820]|not provided [RCV002274999] Chr7:92200599 [GRCh38]
Chr7:91829913 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_194454.3(KRIT1):c.302G>T (p.Gly101Val) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000265398]|Cerebral cavernous malformation [RCV000320476] Chr7:92237720 [GRCh38]
Chr7:91867034 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.-356G>A single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000299657]|Cerebral cavernous malformation [RCV000399853]|not provided [RCV004705448] Chr7:92245107 [GRCh38]
Chr7:91874421 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.1685dup (p.Tyr563fs) duplication not provided [RCV000291180] Chr7:92214655..92214656 [GRCh38]
Chr7:91843969..91843970 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1192_1204del (p.Glu398fs) deletion not provided [RCV000318088] Chr7:92225770..92225782 [GRCh38]
Chr7:91855084..91855096 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1355_1356del (p.Arg452fs) deletion not provided [RCV000334026] Chr7:92222877..92222878 [GRCh38]
Chr7:91852191..91852192 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.*378dup duplication Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000380714]|Cerebral cavernous malformation [RCV000326080] Chr7:92200357..92200358 [GRCh38]
Chr7:91829671..91829672 [GRCh37]
Chr7:7q21.2		 benign
NM_194456.1(KRIT1):c.-780_-775dupCGGCTC microsatellite Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000275128]|Cerebral cavernous malformation [RCV000332541]|not provided [RCV004696041] Chr7:92246090..92246091 [GRCh38]
Chr7:91875404..91875405 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.*451T>C single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000265317]|Cerebral cavernous malformation [RCV000301672] Chr7:92200285 [GRCh38]
Chr7:91829599 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.151_154del (p.Lys51fs) microsatellite Cerebral cavernous malformation [RCV001217342]|Inborn genetic diseases [RCV004639200]|not provided [RCV000368749] Chr7:92241101..92241104 [GRCh38]
Chr7:91870415..91870418 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter) single nucleotide variant Cerebral cavernous malformation [RCV000392041]|not provided [RCV000517670] Chr7:92235417 [GRCh38]
Chr7:91864731 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.*436C>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000266413]|Cerebral cavernous malformation [RCV000361069] Chr7:92200300 [GRCh38]
Chr7:91829614 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194456.1(KRIT1):c.*1655T>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000268332]|Cerebral cavernous malformation [RCV000323500] Chr7:92199081 [GRCh38]
Chr7:91828395 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.*361C>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000386988]|Cerebral cavernous malformation [RCV000292688] Chr7:92200375 [GRCh38]
Chr7:91829689 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.-174C>A single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000292641]|Cerebral cavernous malformation [RCV000386915]|not provided [RCV004696040] Chr7:92244925 [GRCh38]
Chr7:91874239 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.-420-276C>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000305752]|Cerebral cavernous malformation [RCV000360464] Chr7:92245447 [GRCh38]
Chr7:91874761 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.-307A>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV000352259]|Cerebral cavernous malformation [RCV000395357] Chr7:92245058 [GRCh38]
Chr7:91874372 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2053T>C (p.Cys685Arg) single nucleotide variant not provided [RCV000523741] Chr7:92201396 [GRCh38]
Chr7:91830710 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2143-1G>A single nucleotide variant Cerebral cavernous malformation [RCV000559834] Chr7:92200805 [GRCh38]
Chr7:91830119 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic|uncertain significance
NM_194454.3(KRIT1):c.1201C>T (p.Gln401Ter) single nucleotide variant Cerebral cavernous malformation [RCV000539490]|KRIT1-related disorder [RCV004553228] Chr7:92225773 [GRCh38]
Chr7:91855087 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1730+6T>G single nucleotide variant Cerebral cavernous malformation [RCV000535238] Chr7:92214605 [GRCh38]
Chr7:91843919 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.262+1138G>A single nucleotide variant Cerebral cavernous malformation [RCV000594754] Chr7:92239855 [GRCh38]
Chr7:91869169 [GRCh37]
Chr7:7q21.2		 not provided
NM_194454.3(KRIT1):c.1417C>T (p.Gln473Ter) single nucleotide variant Cerebral cavernous malformation [RCV000558177] Chr7:92222048 [GRCh38]
Chr7:91851362 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.907_913del (p.Leu303fs) deletion not provided [RCV000413826] Chr7:92234525..92234531 [GRCh38]
Chr7:91863839..91863845 [GRCh37]
Chr7:7q21.2		 pathogenic
NC_000007.13:g.(?_91864697)_(91867093_?)dup duplication Cerebral cavernous malformation [RCV000538692] Chr7:92235383..92237779 [GRCh38]
Chr7:91864697..91867093 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) microsatellite Cerebral cavernous malformation [RCV000816950]|Hereditary cavernous hemangioma of brain [RCV003447526]|not provided [RCV000414484] Chr7:92225770..92225773 [GRCh38]
Chr7:91855084..91855087 [GRCh37]
Chr7:7q21.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_194454.3(KRIT1):c.397dup (p.Tyr133fs) duplication Cerebral cavernous malformation [RCV003766963]|not provided [RCV000522747] Chr7:92236500..92236501 [GRCh38]
Chr7:91865814..91865815 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.486-2A>G single nucleotide variant Cerebral cavernous malformation [RCV002524828]|not provided [RCV000422186] Chr7:92235648 [GRCh38]
Chr7:91864962 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1762dup (p.Thr588fs) duplication not provided [RCV000482596] Chr7:92213947..92213948 [GRCh38]
Chr7:91843261..91843262 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1959_1960del (p.His653fs) deletion Cerebral cavernous malformation [RCV001856823]|not provided [RCV000478690] Chr7:92213260..92213261 [GRCh38]
Chr7:91842574..91842575 [GRCh37]
Chr7:7q21.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_194454.3(KRIT1):c.1932dup (p.Phe645fs) duplication Cerebral cavernous malformation [RCV001381101]|not specified [RCV000508366] Chr7:92213287..92213288 [GRCh38]
Chr7:91842602 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1036T>A (p.Cys346Ser) single nucleotide variant not provided [RCV000494119] Chr7:92226636 [GRCh38]
Chr7:91855950 [GRCh37]
Chr7:7q21.2		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_194454.3(KRIT1):c.262+68A>G single nucleotide variant not specified [RCV000507405] Chr7:92240925 [GRCh38]
Chr7:91870239 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.1255-1_1256del microsatellite Cerebral cavernous malformation [RCV000532224]|KRIT1-related disorder [RCV004553229] Chr7:92222977..92222979 [GRCh38]
Chr7:91852291..91852293 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.730-1G>C single nucleotide variant Cerebral cavernous malformation [RCV000644430]|not provided [RCV000721898] Chr7:92234924 [GRCh38]
Chr7:91864238 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.1400C>A (p.Ser467Ter) single nucleotide variant Cerebral cavernous malformation [RCV000798671]|not provided [RCV000578785] Chr7:92222833 [GRCh38]
Chr7:91852147 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter) single nucleotide variant Cavernous hemangioma [RCV000626868]|Cerebral cavernous malformation [RCV001007911]|not provided [RCV000721907] Chr7:92234536 [GRCh38]
Chr7:91863850 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.990-1G>A single nucleotide variant Cavernous hemangioma [RCV000626869] Chr7:92226683 [GRCh38]
Chr7:91855997 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.196C>T (p.Gln66Ter) single nucleotide variant Cerebral cavernous malformation [RCV000624959] Chr7:92241059 [GRCh38]
Chr7:91870373 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1688A>G (p.Tyr563Cys) single nucleotide variant Cerebral cavernous malformation [RCV003456314]|Inborn genetic diseases [RCV003253673] Chr7:92214653 [GRCh38]
Chr7:91843967 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NC_000007.13:g.(?_91570394)_(92085896_?)dup duplication Long QT syndrome [RCV000631877] Chr7:91941080..92456582 [GRCh38]
Chr7:91570394..92085896 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1563+10G>A single nucleotide variant not specified [RCV000603183] Chr7:92221892 [GRCh38]
Chr7:91851206 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.729+211T>A single nucleotide variant Cerebral cavernous malformation [RCV000595033] Chr7:92235192 [GRCh38]
Chr7:91864506 [GRCh37]
Chr7:7q21.2		 not provided
NM_194454.3(KRIT1):c.2068_2083del (p.Gly691fs) deletion not provided [RCV003318096] Chr7:92201366..92201381 [GRCh38]
Chr7:91830680..91830695 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.413T>C (p.Ile138Thr) single nucleotide variant Cerebral cavernous malformation [RCV001046152]|not provided [RCV000524002]|not specified [RCV004782421] Chr7:92236485 [GRCh38]
Chr7:91865799 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1A>G (p.Met1Val) single nucleotide variant Cerebral cavernous malformation [RCV000536000]|not provided [RCV000578776] Chr7:92242135 [GRCh38]
Chr7:91871449 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.812G>A (p.Trp271Ter) single nucleotide variant Cerebral cavernous malformation [RCV000542725] Chr7:92234841 [GRCh38]
Chr7:91864155 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1144dup (p.Arg382fs) duplication Cerebral cavernous malformation [RCV000595798] Chr7:92226527..92226528 [GRCh38]
Chr7:91855841..91855842 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2136A>G (p.Thr712=) single nucleotide variant not specified [RCV000604037] Chr7:92201313 [GRCh38]
Chr7:91830627 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.-2-308C>T single nucleotide variant Cerebral cavernous malformation [RCV000596065] Chr7:92242445 [GRCh38]
Chr7:91871759 [GRCh37]
Chr7:7q21.2		 not provided
NM_194454.3(KRIT1):c.999del (p.Val334fs) deletion Cerebral cavernous malformation [RCV001855338]|not provided [RCV000627535] Chr7:92226673 [GRCh38]
Chr7:91855987 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1474dup (p.Ala492fs) duplication not provided [RCV000627600] Chr7:92221990..92221991 [GRCh38]
Chr7:91851304..91851305 [GRCh37]
Chr7:7q21.2		 likely pathogenic
Single allele deletion not provided [RCV000677988] Chr7:73591993..93683437 [GRCh37]
Chr7:7q11.23-21.3		 uncertain significance
NM_194454.3(KRIT1):c.1031del (p.Gly344fs) deletion not provided [RCV000721817] Chr7:92226641 [GRCh38]
Chr7:91855955 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.1147-13C>G single nucleotide variant Cerebral cavernous malformation [RCV001038518]|KRIT1-related disorder [RCV004547916] Chr7:92225840 [GRCh38]
Chr7:91855154 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.1406dup (p.Asn469fs) duplication not provided [RCV000721838] Chr7:92222826..92222827 [GRCh38]
Chr7:91852140..91852141 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.141_145del (p.Arg49fs) deletion not provided [RCV000721839] Chr7:92241110..92241114 [GRCh38]
Chr7:91870424..91870428 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1470dup (p.Leu491fs) duplication not provided [RCV000721844] Chr7:92221994..92221995 [GRCh38]
Chr7:91851308..91851309 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1616T>A (p.Leu539Ter) single nucleotide variant not provided [RCV000721850] Chr7:92214725 [GRCh38]
Chr7:91844039 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1666del (p.Ser556fs) deletion not provided [RCV000721852] Chr7:92214675 [GRCh38]
Chr7:91843989 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1730+4_1730+7del microsatellite Cerebral cavernous malformation [RCV001066958]|not provided [RCV000721856] Chr7:92214604..92214607 [GRCh38]
Chr7:91843918..91843921 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1731-3C>A single nucleotide variant not provided [RCV000721858] Chr7:92213982 [GRCh38]
Chr7:91843296 [GRCh37]
Chr7:7q21.2		 likely pathogenic|uncertain significance
NM_194454.3(KRIT1):c.1739del (p.Asn580fs) deletion not provided [RCV000721859] Chr7:92213971 [GRCh38]
Chr7:91843285 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1815C>G (p.Tyr605Ter) single nucleotide variant not provided [RCV000721864] Chr7:92213895 [GRCh38]
Chr7:91843209 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2000T>G (p.Leu667Arg) single nucleotide variant not provided [RCV000721869] Chr7:92213220 [GRCh38]
Chr7:91842534 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2139del (p.Lys713fs) deletion not provided [RCV000721876] Chr7:92201310 [GRCh38]
Chr7:91830624 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.262+142T>G single nucleotide variant not provided [RCV000721879] Chr7:92240851 [GRCh38]
Chr7:91870165 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.391A>G (p.Ile131Val) single nucleotide variant not provided [RCV000721884] Chr7:92236507 [GRCh38]
Chr7:91865821 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter) single nucleotide variant not provided [RCV000721885] Chr7:92236480 [GRCh38]
Chr7:91865794 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.674del (p.Ala225fs) deletion Cerebral cavernous malformation [RCV002535017]|not provided [RCV000721892] Chr7:92235458 [GRCh38]
Chr7:91864772 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.679dup (p.Thr227fs) duplication not provided [RCV000721893] Chr7:92235452..92235453 [GRCh38]
Chr7:91864766..91864767 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.730-1G>A single nucleotide variant Cerebral cavernous malformation [RCV001380231]|not provided [RCV000721897] Chr7:92234924 [GRCh38]
Chr7:91864238 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.845+2T>A single nucleotide variant Cerebral cavernous malformation [RCV001241794]|not provided [RCV000721903] Chr7:92234806 [GRCh38]
Chr7:91864120 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter) single nucleotide variant not provided [RCV000721905] Chr7:92234588 [GRCh38]
Chr7:91863902 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.947_948insAC (p.Leu317fs) insertion not provided [RCV000721908] Chr7:92234490..92234491 [GRCh38]
Chr7:91863804..91863805 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1264G>A (p.Val422Ile) single nucleotide variant Inborn genetic diseases [RCV003165952]|KRIT1-related disorder [RCV003458510]|not provided [RCV000721830] Chr7:92222969 [GRCh38]
Chr7:91852283 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1043C>T (p.Pro348Leu) single nucleotide variant not provided [RCV000721818] Chr7:92226629 [GRCh38]
Chr7:91855943 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1146+1G>C single nucleotide variant not provided [RCV000721822] Chr7:92226525 [GRCh38]
Chr7:91855839 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1263_1267delinsTGTA (p.Lys421fs) indel not provided [RCV000721829] Chr7:92222966..92222970 [GRCh38]
Chr7:91852280..91852284 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1355_1359del (p.Arg452fs) deletion not provided [RCV000721833] Chr7:92222874..92222878 [GRCh38]
Chr7:91852188..91852192 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1358dup (p.Ser454fs) duplication not provided [RCV000721834] Chr7:92222874..92222875 [GRCh38]
Chr7:91852188..91852189 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1513C>T (p.Gln505Ter) single nucleotide variant Cerebral cavernous malformation [RCV001385873]|not provided [RCV000721846] Chr7:92221952 [GRCh38]
Chr7:91851266 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1563+1G>A single nucleotide variant Cerebral cavernous malformation [RCV003523017]|not provided [RCV000721848] Chr7:92221901 [GRCh38]
Chr7:91851215 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1710del (p.Lys570fs) deletion Cerebral cavernous malformation [RCV001868915]|not provided [RCV000721854] Chr7:92214631 [GRCh38]
Chr7:91843945 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1730+5G>A single nucleotide variant Cerebral cavernous malformation [RCV003523018]|not provided [RCV000721857] Chr7:92214606 [GRCh38]
Chr7:91843920 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.488G>A (p.Trp163Ter) single nucleotide variant not provided [RCV000721887] Chr7:92235644 [GRCh38]
Chr7:91864958 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.729+1G>A single nucleotide variant Cerebral cavernous malformation [RCV001211745]|not provided [RCV000721896] Chr7:92235402 [GRCh38]
Chr7:91864716 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.842del (p.Asp281fs) deletion Cerebral cavernous malformation [RCV002535018]|not provided [RCV000721901] Chr7:92234811 [GRCh38]
Chr7:91864125 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter) single nucleotide variant Cerebral cavernous malformation [RCV001862108]|not provided [RCV000721906] Chr7:92234558 [GRCh38]
Chr7:91863872 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1782A>G (p.Ala594=) single nucleotide variant Cerebral cavernous malformation [RCV002060962]|Inborn genetic diseases [RCV002397499]|not provided [RCV000721862] Chr7:92213928 [GRCh38]
Chr7:91843242 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.729+5G>C single nucleotide variant Cerebral cavernous malformation [RCV000686360] Chr7:92235398 [GRCh38]
Chr7:91864712 [GRCh37]
Chr7:7q21.2		 likely pathogenic|uncertain significance
NM_194454.3(KRIT1):c.896del (p.Gly299fs) deletion Cerebral cavernous malformation [RCV000681478] Chr7:92234542 [GRCh38]
Chr7:91863856 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.2152G>A (p.Val718Met) single nucleotide variant Cerebral cavernous malformation [RCV000701994]|Inborn genetic diseases [RCV004026575] Chr7:92200795 [GRCh38]
Chr7:91830109 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_194454.3(KRIT1):c.1437_1438del (p.Lys479fs) deletion Cerebral cavernous malformation [RCV000699269] Chr7:92222027..92222028 [GRCh38]
Chr7:91851341..91851342 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.-346G>A single nucleotide variant not provided [RCV000721814] Chr7:92245097 [GRCh38]
Chr7:91874411 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1372C>T (p.Gln458Ter) single nucleotide variant Cerebral cavernous malformation [RCV001862106]|not provided [RCV000721836] Chr7:92222861 [GRCh38]
Chr7:91852175 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.1421_1422dup (p.Lys475fs) duplication not provided [RCV000721842] Chr7:92222042..92222043 [GRCh38]
Chr7:91851356..91851357 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter) single nucleotide variant Cerebral cavernous malformation [RCV002067078]|not provided [RCV000721867] Chr7:92213293 [GRCh38]
Chr7:91842607 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.1988A>G (p.Asn663Ser) single nucleotide variant not provided [RCV000721868]|not specified [RCV004782529] Chr7:92213232 [GRCh38]
Chr7:91842546 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2025+2T>C single nucleotide variant not provided [RCV000721871] Chr7:92213193 [GRCh38]
Chr7:91842507 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter) single nucleotide variant Cerebral cavernous malformation [RCV001239359]|not provided [RCV000721875] Chr7:92201357 [GRCh38]
Chr7:91830671 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.264A>G (p.Gly88=) single nucleotide variant Cerebral cavernous malformation [RCV001425135]|Inborn genetic diseases [RCV003165953]|not provided [RCV000721880] Chr7:92237758 [GRCh38]
Chr7:91867072 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.712C>T (p.Leu238Phe) single nucleotide variant KRIT1-related disorder [RCV004756022] Chr7:92235420 [GRCh38]
Chr7:91864734 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1237_1240del (p.Glu413fs) microsatellite not provided [RCV000721824] Chr7:92225734..92225737 [GRCh38]
Chr7:91855048..91855051 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1563G>A (p.Gln521=) single nucleotide variant Cerebral cavernous malformation [RCV002535016]|not provided [RCV000721849] Chr7:92221902 [GRCh38]
Chr7:91851216 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2025+26A>G single nucleotide variant not provided [RCV000721870] Chr7:92213169 [GRCh38]
Chr7:91842483 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2026-12A>G single nucleotide variant Cerebral cavernous malformation [RCV003523019]|not provided [RCV000721872] Chr7:92201435 [GRCh38]
Chr7:91830749 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.2083dup (p.Thr695fs) duplication not provided [RCV000721874] Chr7:92201365..92201366 [GRCh38]
Chr7:91830679..91830680 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.363_369del (p.Lys122fs) deletion not provided [RCV000721883] Chr7:92236529..92236535 [GRCh38]
Chr7:91865843..91865849 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.589A>G (p.Thr197Ala) single nucleotide variant Cerebral cavernous malformation [RCV001862107]|Inborn genetic diseases [RCV002352236]|not provided [RCV000721890] Chr7:92235543 [GRCh38]
Chr7:91864857 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_194454.3(KRIT1):c.646A>G (p.Lys216Glu) single nucleotide variant Cerebral cavernous malformation [RCV001241793]|not provided [RCV000721891] Chr7:92235486 [GRCh38]
Chr7:91864800 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.790_794del (p.Gln264fs) deletion not provided [RCV000721900] Chr7:92234859..92234863 [GRCh38]
Chr7:91864173..91864177 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1730+3A>C single nucleotide variant Cerebral cavernous malformation [RCV000693414]|not provided [RCV000721855] Chr7:92214608 [GRCh38]
Chr7:91843922 [GRCh37]
Chr7:7q21.2		 likely pathogenic|uncertain significance
NM_194454.3(KRIT1):c.482A>G (p.Asp161Gly) single nucleotide variant Cerebral cavernous malformation [RCV000690923]|not provided [RCV001545010] Chr7:92236416 [GRCh38]
Chr7:91865730 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1373del (p.Gln458fs) deletion Cerebral cavernous malformation [RCV000703496] Chr7:92222860 [GRCh38]
Chr7:91852174 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1237del (p.Glu413fs) deletion not provided [RCV000721825] Chr7:92225737 [GRCh38]
Chr7:91855051 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1391G>A (p.Trp464Ter) single nucleotide variant Cerebral cavernous malformation [RCV003523016]|not provided [RCV000721837] Chr7:92222842 [GRCh38]
Chr7:91852156 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1412-2A>C single nucleotide variant Cerebral cavernous malformation [RCV001071022]|not provided [RCV000721841] Chr7:92222055 [GRCh38]
Chr7:91851369 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.1754dup (p.Pro586fs) duplication not provided [RCV000721861] Chr7:92213955..92213956 [GRCh38]
Chr7:91843269..91843270 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1897_1903del (p.Pro633fs) deletion not provided [RCV000721866] Chr7:92213317..92213323 [GRCh38]
Chr7:91842631..91842637 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter) single nucleotide variant Cerebral cavernous malformation [RCV000803135]|not provided [RCV000721881] Chr7:92237754 [GRCh38]
Chr7:91867068 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.845+1G>A single nucleotide variant Cerebral cavernous malformation [RCV001868916]|not provided [RCV000721902] Chr7:92234807 [GRCh38]
Chr7:91864121 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1657dup (p.Thr553fs) duplication not provided [RCV000721851] Chr7:92214683..92214684 [GRCh38]
Chr7:91843997..91843998 [GRCh37]
Chr7:7q21.2		 pathogenic
NC_000007.14:g.(?_92200604)_(92242155_?)del deletion Cerebral cavernous malformation [RCV000707949] Chr7:92200604..92242155 [GRCh38]
Chr7:91829918..91871469 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1114C>T (p.Gln372Ter) single nucleotide variant Cerebral cavernous malformation [RCV003523015]|not provided [RCV000721820] Chr7:92226558 [GRCh38]
Chr7:91855872 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.1255-1G>A single nucleotide variant Cerebral cavernous malformation [RCV001385874]|not provided [RCV000721828] Chr7:92222979 [GRCh38]
Chr7:91852293 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1306_1310del (p.Leu436fs) microsatellite Cerebral cavernous malformation [RCV000814128]|not provided [RCV000721831] Chr7:92222923..92222927 [GRCh38]
Chr7:91852237..91852241 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1477G>T (p.Glu493Ter) single nucleotide variant not provided [RCV000721845] Chr7:92221988 [GRCh38]
Chr7:91851302 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1885T>C (p.Cys629Arg) single nucleotide variant not provided [RCV000721865] Chr7:92213335 [GRCh38]
Chr7:91842649 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2043del (p.Lys682fs) deletion Cerebral cavernous malformation [RCV003633535]|not provided [RCV000721873] Chr7:92201406 [GRCh38]
Chr7:91830720 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.2143-1G>C single nucleotide variant not provided [RCV000721877] Chr7:92200805 [GRCh38]
Chr7:91830119 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.249_250dup (p.Gln84fs) duplication not provided [RCV000721878] Chr7:92241004..92241005 [GRCh38]
Chr7:91870318..91870319 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.707C>G (p.Ser236Ter) single nucleotide variant not provided [RCV000721894] Chr7:92235425 [GRCh38]
Chr7:91864739 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.972del (p.Ile325fs) deletion not provided [RCV000721909] Chr7:92234466 [GRCh38]
Chr7:91863780 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1959_1960insC (p.Lys654fs) insertion Cerebral cavernous malformation [RCV001724743] Chr7:92213260..92213261 [GRCh38]
Chr7:91842574..91842575 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.729+240G>T single nucleotide variant not provided [RCV001535095] Chr7:92235163 [GRCh38]
Chr7:91864477 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.1608_1633del (p.Arg536fs) deletion not provided [RCV001090899] Chr7:92214708..92214733 [GRCh38]
Chr7:91844022..91844047 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194456.1(KRIT1):c.-770G>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001164004]|Cerebral cavernous malformation [RCV001164005] Chr7:92246086 [GRCh38]
Chr7:91875400 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2007C>T (p.Leu669=) single nucleotide variant not provided [RCV000976173] Chr7:92213213 [GRCh38]
Chr7:91842527 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1739dup (p.Asn580fs) duplication Cerebral cavernous malformation [RCV001051618] Chr7:92213970..92213971 [GRCh38]
Chr7:91843284..91843285 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.477C>T (p.Ala159=) single nucleotide variant not provided [RCV000980628] Chr7:92236421 [GRCh38]
Chr7:91865735 [GRCh37]
Chr7:7q21.2		 likely benign
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_194454.3(KRIT1):c.1041T>C (p.Asn347=) single nucleotide variant not provided [RCV001812382] Chr7:92226631 [GRCh38]
Chr7:91855945 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1938A>G (p.Thr646=) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001158794]|Cerebral cavernous malformation [RCV001158795]|KRIT1-related disorder [RCV004756119]|not provided [RCV000939484] Chr7:92213282 [GRCh38]
Chr7:91842596 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_194454.3(KRIT1):c.2068T>C (p.Leu690=) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001163712]|Cerebral cavernous malformation [RCV001163713]|KRIT1-related disorder [RCV004551669]|not provided [RCV000893072] Chr7:92201381 [GRCh38]
Chr7:91830695 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_194454.3(KRIT1):c.489G>A (p.Trp163Ter) single nucleotide variant not provided [RCV000760856] Chr7:92235643 [GRCh38]
Chr7:91864957 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.729+1G>T single nucleotide variant Cerebral cavernous malformation [RCV001061102] Chr7:92235402 [GRCh38]
Chr7:91864716 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.1327A>T (p.Thr443Ser) single nucleotide variant not provided [RCV003239268] Chr7:92222906 [GRCh38]
Chr7:91852220 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.*450A>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001165410]|Cerebral cavernous malformation [RCV001165409] Chr7:92200286 [GRCh38]
Chr7:91829600 [GRCh37]
Chr7:7q21.2		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_194454.3(KRIT1):c.1771A>G (p.Lys591Glu) single nucleotide variant Cerebral cavernous malformation [RCV001963973] Chr7:92213939 [GRCh38]
Chr7:91843253 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.699del (p.Leu233fs) deletion Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations [RCV001807487]|not provided [RCV001665312] Chr7:92235433 [GRCh38]
Chr7:91864747 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194456.1(KRIT1):c.*1555A>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001165290]|Cerebral cavernous malformation [RCV001165291] Chr7:92199181 [GRCh38]
Chr7:91828495 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194456.1(KRIT1):c.*1530T>C single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001165292]|Cerebral cavernous malformation [RCV001165293] Chr7:92199206 [GRCh38]
Chr7:91828520 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.846-15C>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001163816]|Cerebral cavernous malformation [RCV001163817] Chr7:92234607 [GRCh38]
Chr7:91863921 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_194454.3(KRIT1):c.2207C>T (p.Ser736Leu) single nucleotide variant Cerebral cavernous malformation [RCV002066268] Chr7:92200740 [GRCh38]
Chr7:91830054 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.2046G>A (p.Lys682=) single nucleotide variant Cerebral cavernous malformation [RCV002066269]|Inborn genetic diseases [RCV002416222] Chr7:92201403 [GRCh38]
Chr7:91830717 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.1440C>T (p.Pro480=) single nucleotide variant Cerebral cavernous malformation [RCV001465386] Chr7:92222025 [GRCh38]
Chr7:91851339 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1359C>T (p.Leu453=) single nucleotide variant not provided [RCV000968883] Chr7:92222874 [GRCh38]
Chr7:91852188 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.276A>G (p.Val92=) single nucleotide variant not provided [RCV000926463] Chr7:92237746 [GRCh38]
Chr7:91867060 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.535C>T (p.Arg179Ter) single nucleotide variant Cerebral cavernous malformation [RCV001062410]|not provided [RCV004720059] Chr7:92235597 [GRCh38]
Chr7:91864911 [GRCh37]
Chr7:7q21.2		 pathogenic
NC_000007.14:g.(?_92234429)_(92234943_?)del deletion Cerebral cavernous malformation [RCV001033086] Chr7:91863743..91864257 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1392G>A (p.Trp464Ter) single nucleotide variant Cerebral cavernous malformation [RCV001049427] Chr7:92222841 [GRCh38]
Chr7:91852155 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1355G>A (p.Arg452His) single nucleotide variant Cerebral cavernous malformation [RCV003523048]|Inborn genetic diseases [RCV004029675] Chr7:92222878 [GRCh38]
Chr7:91852192 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.659dup (p.Leu220fs) duplication Cerebral cavernous malformation [RCV000817555] Chr7:92235472..92235473 [GRCh38]
Chr7:91864786..91864787 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.810dup (p.Trp271fs) duplication Cerebral cavernous malformation [RCV000810646] Chr7:92234842..92234843 [GRCh38]
Chr7:91864156..91864157 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1342del (p.Met448fs) deletion Cerebral cavernous malformation [RCV000805011] Chr7:92222891 [GRCh38]
Chr7:91852205 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.587C>G (p.Ala196Gly) single nucleotide variant Cerebral cavernous malformation [RCV000875065] Chr7:92235545 [GRCh38]
Chr7:91864859 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.845+10C>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001163820]|Cerebral cavernous malformation [RCV001163821] Chr7:92234798 [GRCh38]
Chr7:91864112 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_194454.3(KRIT1):c.755A>G (p.Tyr252Cys) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001163823]|Cerebral cavernous malformation [RCV001163822] Chr7:92234898 [GRCh38]
Chr7:91864212 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1355G>T (p.Arg452Leu) single nucleotide variant Cerebral cavernous malformation [RCV001226531] Chr7:92222878 [GRCh38]
Chr7:91852192 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.989+63C>G single nucleotide variant not provided [RCV001635788] Chr7:92234386 [GRCh38]
Chr7:91863700 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.1306T>C (p.Leu436=) single nucleotide variant Inborn genetic diseases [RCV002381993]|not provided [RCV000873948] Chr7:92222927 [GRCh38]
Chr7:91852241 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.845+9T>G single nucleotide variant Cerebral cavernous malformation [RCV000873134]|KRIT1-related disorder [RCV004549968] Chr7:92234799 [GRCh38]
Chr7:91864113 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.845+10C>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001163818]|Cerebral cavernous malformation [RCV001163819]|not provided [RCV000910283] Chr7:92234798 [GRCh38]
Chr7:91864112 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.2024del (p.Lys675fs) deletion Cerebral cavernous malformation [RCV001244933] Chr7:92213196 [GRCh38]
Chr7:91842510 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1255-2A>G single nucleotide variant Cerebral cavernous malformation [RCV001065715]|not provided [RCV001289360] Chr7:92222980 [GRCh38]
Chr7:91852294 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1371_1372del (p.Gln458fs) deletion Cerebral cavernous malformation [RCV001212104] Chr7:92222861..92222862 [GRCh38]
Chr7:91852175..91852176 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1255-296del deletion not provided [RCV001598148] Chr7:92223274 [GRCh38]
Chr7:91852588 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.1146+4_1146+8del deletion not provided [RCV001555512] Chr7:92226518..92226522 [GRCh38]
Chr7:91855832..91855836 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1411+181G>A single nucleotide variant not provided [RCV001715284] Chr7:92222641 [GRCh38]
Chr7:91851955 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.*1029T>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001161786]|Cerebral cavernous malformation [RCV001161787] Chr7:92199707 [GRCh38]
Chr7:91829021 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.*182A>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001161899]|Cerebral cavernous malformation [RCV001161900] Chr7:92200554 [GRCh38]
Chr7:91829868 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1412-1G>C single nucleotide variant not provided [RCV001703409] Chr7:92222054 [GRCh38]
Chr7:91851368 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.486-193T>C single nucleotide variant not provided [RCV001684737] Chr7:92235839 [GRCh38]
Chr7:91865153 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.570_583del (p.Ile191fs) deletion Cerebral cavernous malformation [RCV001212146] Chr7:92235549..92235562 [GRCh38]
Chr7:91864863..91864876 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2142+1G>C single nucleotide variant Cerebral cavernous malformation [RCV001050074] Chr7:92201306 [GRCh38]
Chr7:91830620 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194456.1(KRIT1):c.-632A>C single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001160332]|Cerebral cavernous malformation [RCV001160333] Chr7:92245948 [GRCh38]
Chr7:91875262 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1565T>C (p.Ile522Thr) single nucleotide variant Vascular dementia [RCV001263177]|not provided [RCV004720761] Chr7:92214776 [GRCh38]
Chr7:91844090 [GRCh37]
Chr7:7q21.2		 uncertain significance
GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327) copy number gain Isolated Pierre-Robin syndrome [RCV001352649] Chr7:87477185..100333327 [GRCh37]
Chr7:7q21.12-22.1		 pathogenic
NM_194454.3(KRIT1):c.382G>T (p.Gly128Ter) single nucleotide variant Cerebral cavernous malformation [RCV001384337] Chr7:92236516 [GRCh38]
Chr7:91865830 [GRCh37]
Chr7:7q21.2		 pathogenic
NC_000007.13:g.(?_91829918)_(91851387_?)del deletion Cerebral cavernous malformation [RCV001385093] Chr7:91829918..91851387 [GRCh37]
Chr7:7q21.2		 pathogenic
NC_000007.13:g.(91715729_91718698)_(91864237_91972337)del deletion Cerebral cavernous malformation [RCV001728075] Chr7:91718698..91864237 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.182A>T (p.Asn61Ile) single nucleotide variant not provided [RCV001755181] Chr7:92241073 [GRCh38]
Chr7:91870387 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.729+5G>A single nucleotide variant not provided [RCV001756641] Chr7:92235398 [GRCh38]
Chr7:91864712 [GRCh37]
Chr7:7q21.2		 uncertain significance
GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137) copy number gain not specified [RCV002053701] Chr7:77821356..93340137 [GRCh37]
Chr7:7q21.11-21.3		 pathogenic
NM_194454.3(KRIT1):c.1255_1270del16 (p.Glu420fs) deletion Cerebral cavernous malformation [RCV001893428] Chr7:92222960..92222975 [GRCh38]
Chr7:91852274..91852289 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1927_1928del (p.Gln643fs) deletion Cerebral cavernous malformation [RCV001945591] Chr7:92213292..92213293 [GRCh38]
Chr7:91842606..91842607 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.596C>G (p.Ser199Ter) single nucleotide variant Cerebral cavernous malformation [RCV002007450] Chr7:92235536 [GRCh38]
Chr7:91864850 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.102+1G>A single nucleotide variant Cerebral cavernous malformation [RCV002037653] Chr7:92242033 [GRCh38]
Chr7:91871347 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1791G>A (p.Trp597Ter) single nucleotide variant Cerebral cavernous malformation [RCV002037712] Chr7:92213919 [GRCh38]
Chr7:91843233 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1563+6C>T single nucleotide variant Cerebral cavernous malformation [RCV002001249] Chr7:92221896 [GRCh38]
Chr7:91851210 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1705A>T (p.Lys569Ter) single nucleotide variant Cerebral cavernous malformation [RCV001941763] Chr7:92214636 [GRCh38]
Chr7:91843950 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1419A>G (p.Gln473=) single nucleotide variant Cerebral cavernous malformation [RCV001923000]|Inborn genetic diseases [RCV004641772] Chr7:92222046 [GRCh38]
Chr7:91851360 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NC_000007.13:g.(?_91842489)_(91871449_?)del deletion Cerebral cavernous malformation [RCV001953633] Chr7:91842489..91871449 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.235A>G (p.Ile79Val) single nucleotide variant Cerebral cavernous malformation [RCV000964766]|Inborn genetic diseases [RCV003169482] Chr7:92241020 [GRCh38]
Chr7:91870334 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1742_1748dup (p.Ile584fs) duplication Cerebral cavernous malformation [RCV000821099]|not provided [RCV001009118] Chr7:92213961..92213962 [GRCh38]
Chr7:91843275..91843276 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.747_750del (p.Asn250fs) deletion Cerebral cavernous malformation [RCV000808889] Chr7:92234903..92234906 [GRCh38]
Chr7:91864217..91864220 [GRCh37]
Chr7:7q21.2		 pathogenic
GRCh37/hg19 7q21.2(chr7:91779899-91856816)x3 copy number gain not provided [RCV000848289] Chr7:91779899..91856816 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1558A>T (p.Lys520Ter) single nucleotide variant Cerebral cavernous malformation [RCV000809461] Chr7:92221907 [GRCh38]
Chr7:91851221 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2160A>G (p.Lys720=) single nucleotide variant not provided [RCV000942945] Chr7:92200787 [GRCh38]
Chr7:91830101 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1818+4A>G single nucleotide variant Cerebral cavernous malformation [RCV000816058] Chr7:92213888 [GRCh38]
Chr7:91843202 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2044A>C (p.Lys682Gln) single nucleotide variant Cerebral cavernous malformation [RCV000872046]|Inborn genetic diseases [RCV002416054]|KRIT1-related disorder [RCV004549965]|not provided [RCV002281141] Chr7:92201405 [GRCh38]
Chr7:91830719 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_194454.3(KRIT1):c.1315G>T (p.Gly439Ter) single nucleotide variant not specified [RCV001001229] Chr7:92222918 [GRCh38]
Chr7:91852232 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.*859C>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001163305]|Cerebral cavernous malformation [RCV001163304] Chr7:92199877 [GRCh38]
Chr7:91829191 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.*102C>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001163422]|Cerebral cavernous malformation [RCV001163423] Chr7:92200634 [GRCh38]
Chr7:91829948 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194456.1(KRIT1):c.*1357A>C single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001161783]|Cerebral cavernous malformation [RCV001161782] Chr7:92199379 [GRCh38]
Chr7:91828693 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.*1205T>C single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001161784]|Cerebral cavernous malformation [RCV001161785] Chr7:92199531 [GRCh38]
Chr7:91828845 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.68T>G (p.Leu23Arg) single nucleotide variant Cerebral cavernous malformation [RCV001198077] Chr7:92242068 [GRCh38]
Chr7:91871382 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.989+7G>A single nucleotide variant Cerebral cavernous malformation [RCV001225486] Chr7:92234442 [GRCh38]
Chr7:91863756 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.859del (p.Trp286_Val287insTer) deletion Cerebral cavernous malformation [RCV001211757] Chr7:92234579 [GRCh38]
Chr7:91863893 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1819-1G>A single nucleotide variant Cerebral cavernous malformation [RCV001246709] Chr7:92213402 [GRCh38]
Chr7:91842716 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1574del (p.Pro525fs) deletion Cerebral cavernous malformation [RCV000851319] Chr7:92214767 [GRCh38]
Chr7:91844081 [GRCh37]
Chr7:7q21.2		 likely pathogenic
GRCh37/hg19 7q21.2(chr7:91809746-91836087)x1 copy number loss not provided [RCV001005986] Chr7:91809746..91836087 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.-421+185C>A single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001158993]|Cerebral cavernous malformation [RCV001158994] Chr7:92245605 [GRCh38]
Chr7:91874919 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.125T>C (p.Ile42Thr) single nucleotide variant Cerebral cavernous malformation [RCV001247250]|Inborn genetic diseases [RCV004987003] Chr7:92241130 [GRCh38]
Chr7:91870444 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1148A>G (p.His383Arg) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001160142]|Cerebral cavernous malformation [RCV001160141] Chr7:92225826 [GRCh38]
Chr7:91855140 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194456.1(KRIT1):c.-647T>C single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001160334]|Cerebral cavernous malformation [RCV001160335] Chr7:92245963 [GRCh38]
Chr7:91875277 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194456.1(KRIT1):c.*1457T>C single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001158569]|Cerebral cavernous malformation [RCV001158568] Chr7:92199279 [GRCh38]
Chr7:91828593 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1287del (p.Ser430fs) deletion not provided [RCV001702186] Chr7:92222946 [GRCh38]
Chr7:91852260 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1818+146A>G single nucleotide variant not provided [RCV001594711] Chr7:92213746 [GRCh38]
Chr7:91843060 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.1974G>A (p.Val658=) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001158792]|Cerebral cavernous malformation [RCV001158793] Chr7:92213246 [GRCh38]
Chr7:91842560 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.230A>G (p.Lys77Arg) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001158904]|Cerebral cavernous malformation [RCV001158903] Chr7:92241025 [GRCh38]
Chr7:91870339 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.*234G>A single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001161897]|Cerebral cavernous malformation [RCV001161898] Chr7:92200502 [GRCh38]
Chr7:91829816 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194456.1(KRIT1):c.-691G>C single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001161992]|Cerebral cavernous malformation [RCV001161991] Chr7:92246007 [GRCh38]
Chr7:91875321 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.*918C>T single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001163302]|Cerebral cavernous malformation [RCV001163303] Chr7:92199818 [GRCh38]
Chr7:91829132 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2081del (p.Asp694fs) deletion Cerebral cavernous malformation [RCV001229356] Chr7:92201368 [GRCh38]
Chr7:91830682 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1107_1109delinsCA (p.Glu369fs) indel Cerebral cavernous malformation [RCV001243839]|not provided [RCV003481023] Chr7:92226563..92226565 [GRCh38]
Chr7:91855877..91855879 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1914A>G (p.Ala638=) single nucleotide variant Cerebral cavernous malformation [RCV000911350] Chr7:92213306 [GRCh38]
Chr7:91842620 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1425A>G (p.Lys475=) single nucleotide variant not provided [RCV000998837] Chr7:92222040 [GRCh38]
Chr7:91851354 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1400C>T (p.Ser467Leu) single nucleotide variant Cerebral cavernous malformation [RCV000985202] Chr7:92222833 [GRCh38]
Chr7:91852147 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1146+1G>T single nucleotide variant Cerebral cavernous malformation [RCV001859366]|not provided [RCV001546377] Chr7:92226525 [GRCh38]
Chr7:91855839 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1436A>C (p.Lys479Thr) single nucleotide variant Cerebral cavernous malformation [RCV004799491] Chr7:92222029 [GRCh38]
Chr7:91851343 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.485+65G>C single nucleotide variant not provided [RCV001687299] Chr7:92236348 [GRCh38]
Chr7:91865662 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.730-93A>G single nucleotide variant not provided [RCV001637672] Chr7:92235016 [GRCh38]
Chr7:91864330 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001160244]|Cerebral cavernous malformation [RCV001160245]|Inborn genetic diseases [RCV002558516] Chr7:92242090 [GRCh38]
Chr7:91871404 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_194454.3(KRIT1):c.*77T>C single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001163424]|Cerebral cavernous malformation [RCV001163425] Chr7:92200659 [GRCh38]
Chr7:91829973 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.*331G>A single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001158685]|Cerebral cavernous malformation [RCV001158686] Chr7:92200405 [GRCh38]
Chr7:91829719 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.296T>A (p.Leu99Gln) single nucleotide variant Cerebral cavernous malformation [RCV001061809] Chr7:92237726 [GRCh38]
Chr7:91867040 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1166del (p.Gly389fs) deletion not provided [RCV001703356] Chr7:92225808 [GRCh38]
Chr7:91855122 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194456.1(KRIT1):c.-698G>A single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001161993]|Cerebral cavernous malformation [RCV001161994] Chr7:92246014 [GRCh38]
Chr7:91875328 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1564-316A>T single nucleotide variant not provided [RCV001693819] Chr7:92215093 [GRCh38]
Chr7:91844407 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.2065C>T (p.Gln689Ter) single nucleotide variant Cerebral cavernous malformation [RCV001049339] Chr7:92201384 [GRCh38]
Chr7:91830698 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1263del (p.Val422fs) deletion Cerebral cavernous malformation [RCV001041563] Chr7:92222970 [GRCh38]
Chr7:91852284 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2122_2123insAAAT (p.Phe708Ter) insertion Cerebral cavernous malformation [RCV001043063] Chr7:92201326..92201327 [GRCh38]
Chr7:91830640..91830641 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.*648A>G single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001163306]|Cerebral cavernous malformation [RCV001163307] Chr7:92200088 [GRCh38]
Chr7:91829402 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.-291T>C single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001163613]|Cerebral cavernous malformation [RCV001163612] Chr7:92245042 [GRCh38]
Chr7:91874356 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1281_1282dup (p.Asp428fs) duplication Cerebral cavernous malformation [RCV001205466] Chr7:92222950..92222951 [GRCh38]
Chr7:91852264..91852265 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.*8G>A single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001163711]|Cerebral cavernous malformation [RCV001163710] Chr7:92200728 [GRCh38]
Chr7:91830042 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.695del (p.Pro232fs) deletion Cerebral cavernous malformation [RCV001063076] Chr7:92235437 [GRCh38]
Chr7:91864751 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.649_661del (p.Ser217fs) deletion Cerebral cavernous malformation [RCV001045097] Chr7:92235471..92235483 [GRCh38]
Chr7:91864785..91864797 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.*46G>A single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001163709]|Cerebral cavernous malformation [RCV001163708] Chr7:92200690 [GRCh38]
Chr7:91830004 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_194454.3(KRIT1):c.136A>G (p.Lys46Glu) single nucleotide variant Angiokeratoma corporis diffusum with arteriovenous fistulas [RCV001158905]|Cerebral cavernous malformation [RCV001158906]|not provided [RCV004998670] Chr7:92241119 [GRCh38]
Chr7:91870433 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2102G>A (p.Ser701Asn) single nucleotide variant Cerebral cavernous malformation [RCV001196579]|Inborn genetic diseases [RCV002560223]|not provided [RCV004792782] Chr7:92201347 [GRCh38]
Chr7:91830661 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.787dup (p.Ile263fs) duplication Cerebral cavernous malformation [RCV001065572] Chr7:92234865..92234866 [GRCh38]
Chr7:91864179..91864180 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.208dup (p.Asp70fs) duplication Cerebral cavernous malformation [RCV001214816] Chr7:92241046..92241047 [GRCh38]
Chr7:91870360..91870361 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1268G>A (p.Arg423Gln) single nucleotide variant Cerebral cavernous malformation [RCV001253413] Chr7:92222965 [GRCh38]
Chr7:91852279 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.386G>A (p.Cys129Tyr) single nucleotide variant Cerebral cavernous malformation [RCV002227513] Chr7:92236512 [GRCh38]
Chr7:91865826 [GRCh37]
Chr7:7q21.2		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_194454.3(KRIT1):c.47G>C (p.Arg16Pro) single nucleotide variant Cerebral cavernous malformation [RCV001305774]|not provided [RCV002291745] Chr7:92242089 [GRCh38]
Chr7:91871403 [GRCh37]
Chr7:7q21.2		 uncertain significance
NC_000007.13:g.(?_91570394)_(92085896_?)dup duplication Long QT syndrome [RCV001295951] Chr7:91570394..92085896 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.499C>T (p.Arg167Cys) single nucleotide variant Cerebral cavernous malformation [RCV001301951]|not provided [RCV001785808] Chr7:92235633 [GRCh38]
Chr7:91864947 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.206T>A (p.Leu69Ter) single nucleotide variant Cerebral cavernous malformation [RCV001382706] Chr7:92241049 [GRCh38]
Chr7:91870363 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.525A>G (p.Pro175=) single nucleotide variant Cerebral cavernous malformation [RCV001433176]|Inborn genetic diseases [RCV004038320] Chr7:92235607 [GRCh38]
Chr7:91864921 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1446dup (p.His483fs) duplication Cerebral cavernous malformation [RCV001382575] Chr7:92222018..92222019 [GRCh38]
Chr7:91851332..91851333 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His) single nucleotide variant Cerebral cavernous malformation [RCV003633583]|Inborn genetic diseases [RCV004035570]|not provided [RCV001289361] Chr7:92213352 [GRCh38]
Chr7:91842666 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000007.13:g.(?_91863743)_(91871469_?)del deletion Cerebral cavernous malformation [RCV001385094] Chr7:91863743..91871469 [GRCh37]
Chr7:7q21.2		 pathogenic
NC_000007.13:g.(?_91851196)_(91871469_?)del deletion Cerebral cavernous malformation [RCV001387489] Chr7:91851196..91871469 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.444T>C (p.His148=) single nucleotide variant Cerebral cavernous malformation [RCV001478792]|not specified [RCV001664892] Chr7:92236454 [GRCh38]
Chr7:91865768 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.1419A>C (p.Gln473His) single nucleotide variant Cerebral cavernous malformation [RCV001460490] Chr7:92222046 [GRCh38]
Chr7:91851360 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.2049T>G (p.Tyr683Ter) single nucleotide variant Cerebral cavernous malformation [RCV001388000] Chr7:92201400 [GRCh38]
Chr7:91830714 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2113A>T (p.Lys705Ter) single nucleotide variant Cerebral cavernous malformation [RCV001387454] Chr7:92201336 [GRCh38]
Chr7:91830650 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1212G>A (p.Trp404Ter) single nucleotide variant Cerebral cavernous malformation [RCV001389497] Chr7:92225762 [GRCh38]
Chr7:91855076 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1333C>T (p.Gln445Ter) single nucleotide variant Cerebral cavernous malformation [RCV001380312]|not provided [RCV003120592] Chr7:92222900 [GRCh38]
Chr7:91852214 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1616T>G (p.Leu539Ter) single nucleotide variant Cerebral cavernous malformation [RCV001380341] Chr7:92214725 [GRCh38]
Chr7:91844039 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1389_1390del (p.Ile463fs) microsatellite Cerebral cavernous malformation [RCV001388177] Chr7:92222843..92222844 [GRCh38]
Chr7:91852157..91852158 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1980_1981delinsGT (p.Gly661Ter) indel Cerebral cavernous malformation [RCV001389076] Chr7:92213239..92213240 [GRCh38]
Chr7:91842553..91842554 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1162C>T (p.Gln388Ter) single nucleotide variant Cerebral cavernous malformation [RCV001385875] Chr7:92225812 [GRCh38]
Chr7:91855126 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1297del (p.Ser433fs) deletion Cerebral cavernous malformation [RCV001381084] Chr7:92222936 [GRCh38]
Chr7:91852250 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.918T>C (p.Arg306=) single nucleotide variant Cerebral cavernous malformation [RCV001393245] Chr7:92234520 [GRCh38]
Chr7:91863834 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.250C>T (p.Gln84Ter) single nucleotide variant Cerebral cavernous malformation [RCV001387434] Chr7:92241005 [GRCh38]
Chr7:91870319 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1099dup (p.His367fs) duplication Cerebral cavernous malformation [RCV001384331] Chr7:92226572..92226573 [GRCh38]
Chr7:91855886..91855887 [GRCh37]
Chr7:7q21.2		 pathogenic
NC_000007.13:g.(?_91866961)_(91871469_?)del deletion Cerebral cavernous malformation [RCV001387490] Chr7:91866961..91871469 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1664C>T (p.Ala555Val) single nucleotide variant Cerebral cavernous malformation [RCV001728076] Chr7:92214677 [GRCh38]
Chr7:91843991 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1905T>A (p.Tyr635Ter) single nucleotide variant Cerebral cavernous malformation [RCV004594625]|not provided [RCV002244331] Chr7:92213315 [GRCh38]
Chr7:91842629 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1730+14A>G single nucleotide variant not specified [RCV004783694] Chr7:92214597 [GRCh38]
Chr7:91843911 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1444C>T (p.Gln482Ter) single nucleotide variant Cerebral cavernous malformation [RCV001775286] Chr7:92222021 [GRCh38]
Chr7:91851335 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1287dup (p.Ser430fs) duplication Cerebral cavernous malformation [RCV003633597]|not provided [RCV001812573] Chr7:92222945..92222946 [GRCh38]
Chr7:91852259..91852260 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1759G>A (p.Val587Ile) single nucleotide variant not provided [RCV001797537] Chr7:92213951 [GRCh38]
Chr7:91843265 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.92A>T (p.Lys31Met) single nucleotide variant not provided [RCV001768739] Chr7:92242044 [GRCh38]
Chr7:91871358 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.727C>T (p.Arg243Trp) single nucleotide variant not provided [RCV001754682] Chr7:92235405 [GRCh38]
Chr7:91864719 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1097del (p.Gly366fs) deletion Cerebral cavernous malformation [RCV001808167] Chr7:92226575 [GRCh38]
Chr7:91855889 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2100_2101dup (p.Ser701fs) duplication Cerebral cavernous malformation [RCV001864103] Chr7:92201347..92201348 [GRCh38]
Chr7:91830661..91830662 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.491T>C (p.Leu164Ser) single nucleotide variant Cerebral cavernous malformation [RCV001864267]|not provided [RCV004774481] Chr7:92235641 [GRCh38]
Chr7:91864955 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1553T>C (p.Val518Ala) single nucleotide variant Cerebral cavernous malformation [RCV002041292]|Inborn genetic diseases [RCV002548896] Chr7:92221912 [GRCh38]
Chr7:91851226 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1943C>T (p.Ala648Val) single nucleotide variant Cerebral cavernous malformation [RCV002020342] Chr7:92213277 [GRCh38]
Chr7:91842591 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.492A>T (p.Leu164Phe) single nucleotide variant Cerebral cavernous malformation [RCV001838843] Chr7:92235640 [GRCh38]
Chr7:91864954 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2165T>A (p.Leu722Ter) single nucleotide variant Cerebral cavernous malformation [RCV001928934] Chr7:92200782 [GRCh38]
Chr7:91830096 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1713_1714del (p.His571fs) microsatellite Cerebral cavernous malformation [RCV001949093] Chr7:92214627..92214628 [GRCh38]
Chr7:91843941..91843942 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.143del (p.Lys48fs) deletion Cerebral cavernous malformation [RCV002002505]|KRIT1-related disorder [RCV003479375] Chr7:92241112 [GRCh38]
Chr7:91870426 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.729G>C (p.Arg243=) single nucleotide variant Cerebral cavernous malformation [RCV002040594] Chr7:92235403 [GRCh38]
Chr7:91864717 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1818+1G>A single nucleotide variant Cerebral cavernous malformation [RCV002004435] Chr7:92213891 [GRCh38]
Chr7:91843205 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1012C>T (p.Arg338Cys) single nucleotide variant Cerebral cavernous malformation [RCV001970327]|Inborn genetic diseases [RCV003170238] Chr7:92226660 [GRCh38]
Chr7:91855974 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_194454.3(KRIT1):c.992A>G (p.Tyr331Cys) single nucleotide variant Cerebral cavernous malformation [RCV001844368] Chr7:92226680 [GRCh38]
Chr7:91855994 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2155G>T (p.Val719Leu) single nucleotide variant Cerebral cavernous malformation [RCV001968935] Chr7:92200792 [GRCh38]
Chr7:91830106 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.582A>G (p.Ala194=) single nucleotide variant Cerebral cavernous malformation [RCV001889733] Chr7:92235550 [GRCh38]
Chr7:91864864 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_194454.3(KRIT1):c.629dup (p.Tyr210Ter) duplication Cerebral cavernous malformation [RCV001946101] Chr7:92235502..92235503 [GRCh38]
Chr7:91864816..91864817 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.646_647del (p.Lys216fs) deletion Cerebral cavernous malformation [RCV001965331] Chr7:92235485..92235486 [GRCh38]
Chr7:91864799..91864800 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.875_876del (p.Leu292fs) microsatellite Cerebral cavernous malformation [RCV001962706] Chr7:92234562..92234563 [GRCh38]
Chr7:91863876..91863877 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1208A>G (p.Asn403Ser) single nucleotide variant Cerebral cavernous malformation [RCV001888090] Chr7:92225766 [GRCh38]
Chr7:91855080 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.443A>G (p.His148Arg) single nucleotide variant Cerebral cavernous malformation [RCV001880580] Chr7:92236455 [GRCh38]
Chr7:91865769 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1400C>G (p.Ser467Ter) single nucleotide variant Cerebral cavernous malformation [RCV001961923] Chr7:92222833 [GRCh38]
Chr7:91852147 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.707C>A (p.Ser236Ter) single nucleotide variant Cerebral cavernous malformation [RCV001919689] Chr7:92235425 [GRCh38]
Chr7:91864739 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.143dup (p.Arg49fs) duplication Cerebral cavernous malformation [RCV001963065] Chr7:92241111..92241112 [GRCh38]
Chr7:91870425..91870426 [GRCh37]
Chr7:7q21.2		 pathogenic
NC_000007.13:g.(?_91830690)_(91832501_?)del deletion Cerebral cavernous malformation [RCV001963069] Chr7:91830690..91832501 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.729+8T>C single nucleotide variant Cerebral cavernous malformation [RCV001997879] Chr7:92235395 [GRCh38]
Chr7:91864709 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1336C>T (p.Gln446Ter) single nucleotide variant Cerebral cavernous malformation [RCV002000050]|not provided [RCV004697173] Chr7:92222897 [GRCh38]
Chr7:91852211 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1211G>A (p.Trp404Ter) single nucleotide variant Cerebral cavernous malformation [RCV001953539] Chr7:92225763 [GRCh38]
Chr7:91855077 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.421G>A (p.Val141Ile) single nucleotide variant Cerebral cavernous malformation [RCV002013414] Chr7:92236477 [GRCh38]
Chr7:91865791 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.733_736del (p.Asp245fs) deletion Cerebral cavernous malformation [RCV001956262] Chr7:92234917..92234920 [GRCh38]
Chr7:91864231..91864234 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2134del (p.Thr712fs) deletion Cerebral cavernous malformation [RCV001916221] Chr7:92201315 [GRCh38]
Chr7:91830629 [GRCh37]
Chr7:7q21.2		 likely pathogenic|uncertain significance
NC_000007.14:g.92201424dup duplication Cerebral cavernous malformation [RCV001876581] Chr7:92201422..92201423 [GRCh38]
Chr7:91830736..91830737 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2189T>C (p.Met730Thr) single nucleotide variant Cerebral cavernous malformation [RCV002046030] Chr7:92200758 [GRCh38]
Chr7:91830072 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1859del (p.His620fs) deletion Cerebral cavernous malformation [RCV001939354] Chr7:92213361 [GRCh38]
Chr7:91842675 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1687T>C (p.Tyr563His) single nucleotide variant Cerebral cavernous malformation [RCV001900089] Chr7:92214654 [GRCh38]
Chr7:91843968 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1730+1G>A single nucleotide variant Cerebral cavernous malformation [RCV001993487] Chr7:92214610 [GRCh38]
Chr7:91843924 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter) single nucleotide variant Cerebral cavernous malformation 1 [RCV002225242]|Cerebral cavernous malformation [RCV002471259] Chr7:92221904 [GRCh38]
Chr7:91851218 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
NM_194454.3(KRIT1):c.387C>T (p.Cys129=) single nucleotide variant Cerebral cavernous malformation [RCV002081658] Chr7:92236511 [GRCh38]
Chr7:91865825 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1176A>G (p.Pro392=) single nucleotide variant Cerebral cavernous malformation [RCV002200098] Chr7:92225798 [GRCh38]
Chr7:91855112 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1411+14T>C single nucleotide variant Cerebral cavernous malformation [RCV002203739] Chr7:92222808 [GRCh38]
Chr7:91852122 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.615A>G (p.Ser205=) single nucleotide variant Cerebral cavernous malformation [RCV002199568] Chr7:92235517 [GRCh38]
Chr7:91864831 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1411+2_1411+5del deletion Cerebral cavernous malformation [RCV002471316] Chr7:92222817..92222820 [GRCh38]
Chr7:91852131..91852134 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.917G>A (p.Arg306His) single nucleotide variant Inborn genetic diseases [RCV002378889] Chr7:92234521 [GRCh38]
Chr7:91863835 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1790G>A (p.Trp597Ter) single nucleotide variant Cerebral cavernous malformation [RCV002858372] Chr7:92213920 [GRCh38]
Chr7:91843234 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.186del (p.Ser62fs) deletion Cerebral cavernous malformation [RCV002858198] Chr7:92241069 [GRCh38]
Chr7:91870383 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1023A>G (p.Leu341=) single nucleotide variant Cerebral cavernous malformation [RCV002512444] Chr7:92226649 [GRCh38]
Chr7:91855963 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1249A>T (p.Lys417Ter) single nucleotide variant Cerebral cavernous malformation [RCV002881566] Chr7:92225725 [GRCh38]
Chr7:91855039 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1175dup (p.Leu393fs) duplication Cerebral cavernous malformation [RCV001958875] Chr7:92225798..92225799 [GRCh38]
Chr7:91855112..91855113 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2064G>A (p.Trp688Ter) single nucleotide variant Cerebral cavernous malformation [RCV001993373] Chr7:92201385 [GRCh38]
Chr7:91830699 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1159C>T (p.Gln387Ter) single nucleotide variant Cerebral cavernous malformation [RCV001994524] Chr7:92225815 [GRCh38]
Chr7:91855129 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1140_1143del (p.Arg382fs) deletion Cerebral cavernous malformation [RCV001960529] Chr7:92226529..92226532 [GRCh38]
Chr7:91855843..91855846 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1796A>G (p.Asn599Ser) single nucleotide variant Cerebral cavernous malformation [RCV001999181]|Inborn genetic diseases [RCV004045465] Chr7:92213914 [GRCh38]
Chr7:91843228 [GRCh37]
Chr7:7q21.2		 uncertain significance
NC_000007.13:g.(?_91830050)_(91830803_?)del deletion Cerebral cavernous malformation [RCV001953631] Chr7:91830050..91830803 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1027A>T (p.Lys343Ter) single nucleotide variant Cerebral cavernous malformation [RCV001951321] Chr7:92226645 [GRCh38]
Chr7:91855959 [GRCh37]
Chr7:7q21.2		 pathogenic
NC_000007.13:g.(?_91842489)_(91843313_?)del deletion Cerebral cavernous malformation [RCV001951517] Chr7:91842489..91843313 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2026-20del deletion Cerebral cavernous malformation [RCV002092660] Chr7:92201443 [GRCh38]
Chr7:91830757 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.885C>T (p.Ser295=) single nucleotide variant Cerebral cavernous malformation [RCV002105059] Chr7:92234553 [GRCh38]
Chr7:91863867 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.2085T>A (p.Thr695=) single nucleotide variant Cerebral cavernous malformation [RCV002115678]|Inborn genetic diseases [RCV003307965]|not provided [RCV004713138] Chr7:92201364 [GRCh38]
Chr7:91830678 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_194454.3(KRIT1):c.1428A>G (p.Pro476=) single nucleotide variant Cerebral cavernous malformation [RCV002092041] Chr7:92222037 [GRCh38]
Chr7:91851351 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1874_1881del (p.Met624_Phe625insTer) deletion not provided [RCV002227335] Chr7:92213339..92213346 [GRCh38]
Chr7:91842653..91842660 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1308G>A (p.Leu436=) single nucleotide variant not provided [RCV002227373] Chr7:92222925 [GRCh38]
Chr7:91852239 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.675A>T (p.Ala225=) single nucleotide variant Cerebral cavernous malformation [RCV002220009] Chr7:92235457 [GRCh38]
Chr7:91864771 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1326C>T (p.Thr442=) single nucleotide variant Cerebral cavernous malformation [RCV002157224] Chr7:92222907 [GRCh38]
Chr7:91852221 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1838G>A (p.Gly613Asp) single nucleotide variant not specified [RCV004782167] Chr7:92213382 [GRCh38]
Chr7:91842696 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1001T>C (p.Val334Ala) single nucleotide variant not provided [RCV004776629] Chr7:92226671 [GRCh38]
Chr7:91855985 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.730-4del deletion Cerebral cavernous malformation [RCV003112033] Chr7:92234927 [GRCh38]
Chr7:91864241 [GRCh37]
Chr7:7q21.2		 likely benign
NC_000007.13:g.(?_91851196)_(91852312_?)del deletion Cerebral cavernous malformation [RCV003113956] Chr7:91851196..91852312 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NC_000007.13:g.(?_91830050)_(91844111_?)del deletion Cerebral cavernous malformation [RCV003113957] Chr7:91830050..91844111 [GRCh37]
Chr7:7q21.2		 pathogenic
NC_000007.13:g.(?_91830050)_(91867093_?)del deletion Cerebral cavernous malformation [RCV003113958] Chr7:91830050..91867093 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.249C>G (p.Asn83Lys) single nucleotide variant not provided [RCV004778395] Chr7:92241006 [GRCh38]
Chr7:91870320 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1453C>T (p.Arg485Cys) single nucleotide variant Inborn genetic diseases [RCV003250842]|See cases [RCV003128505] Chr7:92222012 [GRCh38]
Chr7:91851326 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.547C>G (p.Leu183Val) single nucleotide variant See cases [RCV002252829] Chr7:92235585 [GRCh38]
Chr7:91864899 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2068T>A (p.Leu690Met) single nucleotide variant not provided [RCV003154150] Chr7:92201381 [GRCh38]
Chr7:91830695 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1981G>T (p.Gly661Ter) single nucleotide variant not provided [RCV003232029] Chr7:92213239 [GRCh38]
Chr7:91842553 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.981T>G (p.Tyr327Ter) single nucleotide variant Cerebral cavernous malformation [RCV002290168] Chr7:92234457 [GRCh38]
Chr7:91863771 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.813G>A (p.Trp271Ter) single nucleotide variant Cerebral cavernous malformation [RCV002289378]|KRIT1-related disorder [RCV004731259]|not provided [RCV004591869] Chr7:92234840 [GRCh38]
Chr7:91864154 [GRCh37]
Chr7:7q21.2		 pathogenic|likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_194454.3(KRIT1):c.1564-1G>A single nucleotide variant Cerebral cavernous malformation [RCV003523125]|not provided [RCV002283110] Chr7:92214778 [GRCh38]
Chr7:91844092 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1228T>C (p.Leu410=) single nucleotide variant Inborn genetic diseases [RCV002367068] Chr7:92225746 [GRCh38]
Chr7:91855060 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.896G>A (p.Gly299Glu) single nucleotide variant not provided [RCV003128896] Chr7:92234542 [GRCh38]
Chr7:91863856 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1959_1962dup (p.Val655Ter) duplication not provided [RCV002475182] Chr7:92213257..92213258 [GRCh38]
Chr7:91842571..91842572 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.953_956del (p.Asp318fs) deletion Cerebral cavernous malformation 1 [RCV002472208] Chr7:92234482..92234485 [GRCh38]
Chr7:91863796..91863799 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1967del (p.Ile656fs) deletion not provided [RCV002475181] Chr7:92213253 [GRCh38]
Chr7:91842567 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2025+1G>A single nucleotide variant Cerebral cavernous malformation [RCV002468737] Chr7:92213194 [GRCh38]
Chr7:91842508 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.857G>A (p.Trp286Ter) single nucleotide variant Cerebral cavernous malformation 1 [RCV002472008] Chr7:92234581 [GRCh38]
Chr7:91863895 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.215T>C (p.Val72Ala) single nucleotide variant Inborn genetic diseases [RCV002417891] Chr7:92241040 [GRCh38]
Chr7:91870354 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.780C>G (p.Tyr260Ter) single nucleotide variant Cerebral cavernous malformation [RCV002468738] Chr7:92234873 [GRCh38]
Chr7:91864187 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.539C>A (p.Pro180His) single nucleotide variant not provided [RCV002305890] Chr7:92235593 [GRCh38]
Chr7:91864907 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1970C>T (p.Pro657Leu) single nucleotide variant Inborn genetic diseases [RCV002423486] Chr7:92213250 [GRCh38]
Chr7:91842564 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.612C>T (p.Asn204=) single nucleotide variant Cerebral cavernous malformation [RCV003633639]|Inborn genetic diseases [RCV002360319] Chr7:92235520 [GRCh38]
Chr7:91864834 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1456G>A (p.Asp486Asn) single nucleotide variant Inborn genetic diseases [RCV002394718] Chr7:92222009 [GRCh38]
Chr7:91851323 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1354C>T (p.Arg452Cys) single nucleotide variant Inborn genetic diseases [RCV002383321] Chr7:92222879 [GRCh38]
Chr7:91852193 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2067A>G (p.Gln689=) single nucleotide variant Inborn genetic diseases [RCV002422047] Chr7:92201382 [GRCh38]
Chr7:91830696 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1287G>T (p.Gly429=) single nucleotide variant Inborn genetic diseases [RCV002383216] Chr7:92222946 [GRCh38]
Chr7:91852260 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.74C>T (p.Ser25Phe) single nucleotide variant Inborn genetic diseases [RCV002391611] Chr7:92242062 [GRCh38]
Chr7:91871376 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1564A>G (p.Ile522Val) single nucleotide variant Inborn genetic diseases [RCV002405482] Chr7:92214777 [GRCh38]
Chr7:91844091 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.112C>T (p.His38Tyr) single nucleotide variant Inborn genetic diseases [RCV002320538] Chr7:92241143 [GRCh38]
Chr7:91870457 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1384A>G (p.Thr462Ala) single nucleotide variant Cerebral cavernous malformation [RCV003633653]|Inborn genetic diseases [RCV002381230]|KRIT1-related disorder [RCV004548289]|not specified [RCV004801210] Chr7:92222849 [GRCh38]
Chr7:91852163 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_194454.3(KRIT1):c.947A>C (p.Gln316Pro) single nucleotide variant Cerebral cavernous malformation [RCV005051970]|Inborn genetic diseases [RCV002443507] Chr7:92234491 [GRCh38]
Chr7:91863805 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.790_818del (p.Gln264fs) deletion Cerebral cavernous malformation [RCV002991544] Chr7:92234835..92234863 [GRCh38]
Chr7:91864149..91864177 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2025+1G>T single nucleotide variant Cerebral cavernous malformation [RCV002819546] Chr7:92213194 [GRCh38]
Chr7:91842508 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1932_1933del (p.Phe645fs) microsatellite Cerebral cavernous malformation [RCV003035251] Chr7:92213287..92213288 [GRCh38]
Chr7:91842601..91842602 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1721_1730+5del deletion Cerebral cavernous malformation [RCV003035104] Chr7:92214606..92214620 [GRCh38]
Chr7:91843920..91843934 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.947A>G (p.Gln316Arg) single nucleotide variant Inborn genetic diseases [RCV002752213] Chr7:92234491 [GRCh38]
Chr7:91863805 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1817_1818insTT (p.Lys606fs) insertion Cerebral cavernous malformation [RCV002994722] Chr7:92213892..92213893 [GRCh38]
Chr7:91843206..91843207 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1299T>G (p.Ser433=) single nucleotide variant Cerebral cavernous malformation [RCV002882281] Chr7:92222934 [GRCh38]
Chr7:91852248 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.406C>T (p.Gln136Ter) single nucleotide variant Cerebral cavernous malformation [RCV003037235] Chr7:92236492 [GRCh38]
Chr7:91865806 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.404T>A (p.Leu135Ter) single nucleotide variant Cerebral cavernous malformation [RCV002866991] Chr7:92236494 [GRCh38]
Chr7:91865808 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.536G>A (p.Arg179Gln) single nucleotide variant Cerebral cavernous malformation [RCV002592104]|Inborn genetic diseases [RCV004985218] Chr7:92235596 [GRCh38]
Chr7:91864910 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1600G>A (p.Glu534Lys) single nucleotide variant Cerebral cavernous malformation [RCV003021745]|not provided [RCV004794603] Chr7:92214741 [GRCh38]
Chr7:91844055 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1329A>G (p.Thr443=) single nucleotide variant Cerebral cavernous malformation [RCV002914111] Chr7:92222904 [GRCh38]
Chr7:91852218 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1681A>G (p.Ile561Val) single nucleotide variant Inborn genetic diseases [RCV002848655] Chr7:92214660 [GRCh38]
Chr7:91843974 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2143-2A>T single nucleotide variant Cerebral cavernous malformation [RCV002820354] Chr7:92200806 [GRCh38]
Chr7:91830120 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.150_151del (p.Lys51fs) deletion Cerebral cavernous malformation [RCV003019654] Chr7:92241104..92241105 [GRCh38]
Chr7:91870418..91870419 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.990-22GTTT[4] microsatellite Cerebral cavernous malformation [RCV003019745] Chr7:92226692..92226693 [GRCh38]
Chr7:91856006..91856007 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.508C>T (p.Gln170Ter) single nucleotide variant Cerebral cavernous malformation [RCV002847419] Chr7:92235624 [GRCh38]
Chr7:91864938 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2025+3A>G single nucleotide variant Cerebral cavernous malformation [RCV002721888]|Inborn genetic diseases [RCV002745726] Chr7:92213192 [GRCh38]
Chr7:91842506 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.625G>A (p.Gly209Ser) single nucleotide variant Inborn genetic diseases [RCV002873932] Chr7:92235507 [GRCh38]
Chr7:91864821 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2061G>A (p.Met687Ile) single nucleotide variant Cerebral cavernous malformation [RCV003084994] Chr7:92201388 [GRCh38]
Chr7:91830702 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.652_653insGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGTA (p.Lys218delinsSerSerArgLeuTer) insertion Cerebral cavernous malformation [RCV002833812] Chr7:92235479..92235480 [GRCh38]
Chr7:91864793..91864794 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1145del (p.Arg382fs) deletion Cerebral cavernous malformation [RCV002835249] Chr7:92226527 [GRCh38]
Chr7:91855841 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1302T>A (p.Val434=) single nucleotide variant Cerebral cavernous malformation [RCV003090609] Chr7:92222931 [GRCh38]
Chr7:91852245 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1731-5T>C single nucleotide variant not provided [RCV003228489] Chr7:92213984 [GRCh38]
Chr7:91843298 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1976A>G (p.Tyr659Cys) single nucleotide variant Cerebral cavernous malformation [RCV003133954] Chr7:92213244 [GRCh38]
Chr7:91842558 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.846-8A>G single nucleotide variant not provided [RCV003329726] Chr7:92234600 [GRCh38]
Chr7:91863914 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.689A>G (p.Tyr230Cys) single nucleotide variant Inborn genetic diseases [RCV003370604] Chr7:92235443 [GRCh38]
Chr7:91864757 [GRCh37]
Chr7:7q21.2		 uncertain significance
Single allele deletion not provided [RCV003482629] Chr7:91842499..91871461 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.829_832dup (p.Val278fs) duplication KRIT1-related disorder [RCV004550657] Chr7:92234820..92234821 [GRCh38]
Chr7:91864134..91864135 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1606A>T (p.Arg536Ter) single nucleotide variant KRIT1-related disorder [RCV004550585] Chr7:92214735 [GRCh38]
Chr7:91844049 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1572C>A (p.Asp524Glu) single nucleotide variant KRIT1-related disorder [RCV004550776] Chr7:92214769 [GRCh38]
Chr7:91844083 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1498C>T (p.Gln500Ter) single nucleotide variant Cerebral cavernous malformation [RCV003525298] Chr7:92221967 [GRCh38]
Chr7:91851281 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2025G>C (p.Lys675Asn) single nucleotide variant Cerebral cavernous malformation [RCV003525294] Chr7:92213195 [GRCh38]
Chr7:91842509 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1935del (p.Phe645fs) deletion Cerebral cavernous malformation [RCV003525295] Chr7:92213285 [GRCh38]
Chr7:91842599 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1877T>A (p.Leu626Ter) single nucleotide variant Cerebral cavernous malformation [RCV003525297] Chr7:92213343 [GRCh38]
Chr7:91842657 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.730-12_730-11insGAACCTGGGAGGCGGAGGTTGCAGTGTGCTGAGATCGCACACTGCGA insertion Cerebral cavernous malformation [RCV003634999] Chr7:92234934..92234935 [GRCh38]
Chr7:91864248..91864249 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1717C>G (p.Gln573Glu) single nucleotide variant Cerebral cavernous malformation [RCV003523321] Chr7:92214624 [GRCh38]
Chr7:91843938 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.728G>A (p.Arg243Gln) single nucleotide variant Cerebral cavernous malformation [RCV003523482] Chr7:92235404 [GRCh38]
Chr7:91864718 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1823T>C (p.Leu608Pro) single nucleotide variant not provided [RCV004798428] Chr7:92213397 [GRCh38]
Chr7:91842711 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1150A>G (p.Ile384Val) single nucleotide variant Cerebral cavernous malformation [RCV003633951] Chr7:92225824 [GRCh38]
Chr7:91855138 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.485+13G>T single nucleotide variant Cerebral cavernous malformation [RCV003635311] Chr7:92236400 [GRCh38]
Chr7:91865714 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.126T>C (p.Ile42=) single nucleotide variant Cerebral cavernous malformation [RCV003634944] Chr7:92241129 [GRCh38]
Chr7:91870443 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.2084_2142+81del deletion Cerebral cavernous malformation [RCV003635387] Chr7:92201226..92201365 [GRCh38]
Chr7:91830540..91830679 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1423A>T (p.Lys475Ter) single nucleotide variant Cerebral cavernous malformation [RCV003634928] Chr7:92222042 [GRCh38]
Chr7:91851356 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1818+3A>C single nucleotide variant Cerebral cavernous malformation [RCV003635060] Chr7:92213889 [GRCh38]
Chr7:91843203 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.636A>G (p.Ala212=) single nucleotide variant Cerebral cavernous malformation [RCV003634799] Chr7:92235496 [GRCh38]
Chr7:91864810 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.2030dup (p.Leu677fs) duplication Cerebral cavernous malformation [RCV003524088] Chr7:92201418..92201419 [GRCh38]
Chr7:91830732..91830733 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.*127G>A single nucleotide variant KRIT1-related disorder [RCV004550994] Chr7:92200609 [GRCh38]
Chr7:91829923 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.262+133A>G single nucleotide variant KRIT1-related disorder [RCV004550942] Chr7:92240860 [GRCh38]
Chr7:91870174 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1195A>G (p.Asn399Asp) single nucleotide variant Inborn genetic diseases [RCV004412150] Chr7:92225779 [GRCh38]
Chr7:91855093 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2086T>A (p.Cys696Ser) single nucleotide variant Inborn genetic diseases [RCV004412151] Chr7:92201363 [GRCh38]
Chr7:91830677 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.631A>G (p.Ser211Gly) single nucleotide variant Inborn genetic diseases [RCV004412152] Chr7:92235501 [GRCh38]
Chr7:91864815 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.730-5T>A single nucleotide variant Inborn genetic diseases [RCV004412153] Chr7:92234928 [GRCh38]
Chr7:91864242 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.916C>T (p.Arg306Cys) single nucleotide variant Inborn genetic diseases [RCV004412154] Chr7:92234522 [GRCh38]
Chr7:91863836 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1783C>T (p.Pro595Ser) single nucleotide variant Cerebral cavernous malformation [RCV004566593] Chr7:92213927 [GRCh38]
Chr7:91843241 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.376A>T (p.Thr126Ser) single nucleotide variant Inborn genetic diseases [RCV004633694] Chr7:92236522 [GRCh38]
Chr7:91865836 [GRCh37]
Chr7:7q21.2		 uncertain significance
NC_000007.13:g.(?_91842489)_(91844111_?)del deletion Cerebral cavernous malformation [RCV004583516] Chr7:91842489..91844111 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NC_000007.13:g.(?_91846937)_(91851306_?)del deletion Cerebral cavernous malformation [RCV004583519] Chr7:91846937..91851306 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.2104A>G (p.Met702Val) single nucleotide variant Inborn genetic diseases [RCV004644400] Chr7:92201345 [GRCh38]
Chr7:91830659 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1070C>G (p.Ser357Cys) single nucleotide variant Inborn genetic diseases [RCV004644403] Chr7:92226602 [GRCh38]
Chr7:91855916 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1243A>T (p.Ile415Phe) single nucleotide variant Inborn genetic diseases [RCV004644404] Chr7:92225731 [GRCh38]
Chr7:91855045 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1178T>G (p.Leu393Ter) single nucleotide variant not provided [RCV004697741] Chr7:92225796 [GRCh38]
Chr7:91855110 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NC_000007.13:g.(?_91502908)_(91871449_?)del deletion Cerebral cavernous malformation [RCV004583513] Chr7:91502908..91871449 [GRCh37]
Chr7:7q21.2		 pathogenic
NC_000007.13:g.(?_91842489)_(91844111_?)dup duplication Cerebral cavernous malformation [RCV004583518] Chr7:91842489..91844111 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1864delinsTTT (p.Gln622fs) indel KRIT1-related disorder [RCV004731862] Chr7:92213356 [GRCh38]
Chr7:91842670 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1467A>T (p.Glu489Asp) single nucleotide variant not provided [RCV004727258] Chr7:92221998 [GRCh38]
Chr7:91851312 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1975del (p.Tyr659fs) deletion not provided [RCV004722026] Chr7:92213245 [GRCh38]
Chr7:91842559 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1164del (p.Gly389fs) deletion not provided [RCV004811360] Chr7:92225810 [GRCh38]
Chr7:91855124 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.479T>A (p.Leu160Ter) single nucleotide variant Cerebral cavernous malformation [RCV004759488]   likely pathogenic
NM_194454.3(KRIT1):c.350T>C (p.Val117Ala) single nucleotide variant Inborn genetic diseases [RCV004984253] Chr7:92237672 [GRCh38]
Chr7:91866986 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1063C>G (p.Leu355Val) single nucleotide variant Inborn genetic diseases [RCV004984254] Chr7:92226609 [GRCh38]
Chr7:91855923 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.90T>G (p.Ala30=) single nucleotide variant Inborn genetic diseases [RCV004984246] Chr7:92242046 [GRCh38]
Chr7:91871360 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.694C>G (p.Pro232Ala) single nucleotide variant Inborn genetic diseases [RCV004984250] Chr7:92235438 [GRCh38]
Chr7:91864752 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1907G>T (p.Gly636Val) single nucleotide variant Inborn genetic diseases [RCV004984251] Chr7:92213313 [GRCh38]
Chr7:91842627 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.853C>T (p.Gln285Ter) single nucleotide variant not provided [RCV005001583] Chr7:92234585 [GRCh38]
Chr7:91863899 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.254del (p.Gly85fs) deletion Cerebral cavernous malformation [RCV002867882] Chr7:92241001 [GRCh38]
Chr7:91870315 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.647A>G (p.Lys216Arg) single nucleotide variant Inborn genetic diseases [RCV002659809] Chr7:92235485 [GRCh38]
Chr7:91864799 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1658C>T (p.Thr553Ile) single nucleotide variant Inborn genetic diseases [RCV002738119] Chr7:92214683 [GRCh38]
Chr7:91843997 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1096_1102del (p.Gly366fs) deletion Cerebral cavernous malformation [RCV002889161] Chr7:92226570..92226576 [GRCh38]
Chr7:91855884..91855890 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1377A>G (p.Gln459=) single nucleotide variant Cerebral cavernous malformation [RCV002998966] Chr7:92222856 [GRCh38]
Chr7:91852170 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity
NM_194454.3(KRIT1):c.886G>A (p.Ala296Thr) single nucleotide variant Inborn genetic diseases [RCV002661748] Chr7:92234552 [GRCh38]
Chr7:91863866 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1933_1936dup (p.Thr646fs) duplication Cerebral cavernous malformation [RCV003020296] Chr7:92213283..92213284 [GRCh38]
Chr7:91842597..91842598 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.485+12C>T single nucleotide variant Cerebral cavernous malformation [RCV002890559] Chr7:92236401 [GRCh38]
Chr7:91865715 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1412-3C>G single nucleotide variant Cerebral cavernous malformation [RCV002852669] Chr7:92222056 [GRCh38]
Chr7:91851370 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.871C>T (p.Pro291Ser) single nucleotide variant Inborn genetic diseases [RCV002697617] Chr7:92234567 [GRCh38]
Chr7:91863881 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1860C>T (p.His620=) single nucleotide variant Cerebral cavernous malformation [RCV002711469] Chr7:92213360 [GRCh38]
Chr7:91842674 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1813T>C (p.Tyr605His) single nucleotide variant Cerebral cavernous malformation [RCV002643385] Chr7:92213897 [GRCh38]
Chr7:91843211 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.815_816insTA (p.Gln272fs) insertion Cerebral cavernous malformation [RCV002872141] Chr7:92234837..92234838 [GRCh38]
Chr7:91864151..91864152 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2002C>A (p.His668Asn) single nucleotide variant Inborn genetic diseases [RCV002827375] Chr7:92213218 [GRCh38]
Chr7:91842532 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.30A>G (p.Ala10=) single nucleotide variant Cerebral cavernous malformation [RCV002958695] Chr7:92242106 [GRCh38]
Chr7:91871420 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1775G>C (p.Ser592Thr) single nucleotide variant Cerebral cavernous malformation [RCV002914605] Chr7:92213935 [GRCh38]
Chr7:91843249 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1742dup (p.Ser583fs) duplication Cerebral cavernous malformation [RCV002835251] Chr7:92213967..92213968 [GRCh38]
Chr7:91843281..91843282 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1753G>A (p.Val585Ile) single nucleotide variant Cerebral cavernous malformation [RCV002580749]|Inborn genetic diseases [RCV004064488] Chr7:92213957 [GRCh38]
Chr7:91843271 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.244G>A (p.Ala82Thr) single nucleotide variant Inborn genetic diseases [RCV002748145] Chr7:92241011 [GRCh38]
Chr7:91870325 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1088del (p.Ala363fs) deletion Cerebral cavernous malformation [RCV003060121] Chr7:92226584 [GRCh38]
Chr7:91855898 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.990-5T>C single nucleotide variant Cerebral cavernous malformation [RCV002579240] Chr7:92226687 [GRCh38]
Chr7:91856001 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1996G>C (p.Gly666Arg) single nucleotide variant Inborn genetic diseases [RCV002900750] Chr7:92213224 [GRCh38]
Chr7:91842538 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1793dup (p.Asn599fs) duplication Cerebral cavernous malformation [RCV003051684] Chr7:92213916..92213917 [GRCh38]
Chr7:91843230..91843231 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.213C>T (p.Tyr71=) single nucleotide variant Cerebral cavernous malformation [RCV002585037] Chr7:92241042 [GRCh38]
Chr7:91870356 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1338G>C (p.Gln446His) single nucleotide variant Inborn genetic diseases [RCV002722867] Chr7:92222895 [GRCh38]
Chr7:91852209 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.673G>A (p.Ala225Thr) single nucleotide variant Cerebral cavernous malformation [RCV003052653] Chr7:92235459 [GRCh38]
Chr7:91864773 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.168G>A (p.Thr56=) single nucleotide variant Cerebral cavernous malformation [RCV003050718] Chr7:92241087 [GRCh38]
Chr7:91870401 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.700_703del (p.Phe234fs) microsatellite not provided [RCV004792183] Chr7:92235429..92235432 [GRCh38]
Chr7:91864743..91864746 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2014A>C (p.Met672Leu) single nucleotide variant Inborn genetic diseases [RCV003186058] Chr7:92213206 [GRCh38]
Chr7:91842520 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.198A>G (p.Gln66=) single nucleotide variant Inborn genetic diseases [RCV003168197] Chr7:92241057 [GRCh38]
Chr7:91870371 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.646A>T (p.Lys216Ter) single nucleotide variant Cerebral cavernous malformation [RCV003224698] Chr7:92235486 [GRCh38]
Chr7:91864800 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1411+22T>A single nucleotide variant not provided [RCV003322177] Chr7:92222800 [GRCh38]
Chr7:91852114 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1147-2A>G single nucleotide variant See cases [RCV004798176] Chr7:92225829 [GRCh38]
Chr7:91855143 [GRCh37]
Chr7:7q21.2		 likely pathogenic
GRCh37/hg19 7q21.2(chr7:91830050-91830737)x1 copy number loss not provided [RCV003327277] Chr7:91830050..91830737 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1564-2A>T single nucleotide variant Cerebral cavernous malformation [RCV003387583] Chr7:92214779 [GRCh38]
Chr7:91844093 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1332G>A (p.Val444=) single nucleotide variant Inborn genetic diseases [RCV003380132] Chr7:92222901 [GRCh38]
Chr7:91852215 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.2142+2dup duplication KRIT1-related disorder [RCV004548597]|not provided [RCV003332588] Chr7:92201304..92201305 [GRCh38]
Chr7:91830618..91830619 [GRCh37]
Chr7:7q21.2		 likely pathogenic|uncertain significance
NM_194454.3(KRIT1):c.292C>T (p.Pro98Ser) single nucleotide variant Inborn genetic diseases [RCV003356305] Chr7:92237730 [GRCh38]
Chr7:91867044 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1942G>A (p.Ala648Thr) single nucleotide variant Cerebral cavernous malformation [RCV003333682] Chr7:92213278 [GRCh38]
Chr7:91842592 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1717_1720del (p.Gln573fs) microsatellite Cerebral cavernous malformation [RCV003445411] Chr7:92214621..92214624 [GRCh38]
Chr7:91843935..91843938 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.542CTC[1] (p.Pro182del) microsatellite Cerebral cavernous malformation [RCV003873924] Chr7:92235585..92235587 [GRCh38]
Chr7:91864899..91864901 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2116A>G (p.Met706Val) single nucleotide variant KRIT1-related disorder [RCV004550798] Chr7:92201333 [GRCh38]
Chr7:91830647 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.721A>G (p.Thr241Ala) single nucleotide variant KRIT1-related disorder [RCV004552471] Chr7:92235411 [GRCh38]
Chr7:91864725 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.950T>C (p.Leu317Ser) single nucleotide variant KRIT1-related disorder [RCV004550592] Chr7:92234488 [GRCh38]
Chr7:91863802 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1972G>A (p.Val658Met) single nucleotide variant KRIT1-related disorder [RCV004550790] Chr7:92213248 [GRCh38]
Chr7:91842562 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1564-8_1564-4del deletion KRIT1-related disorder [RCV004550696] Chr7:92214781..92214785 [GRCh38]
Chr7:91844095..91844099 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1127A>T (p.Asn376Ile) single nucleotide variant Cerebral cavernous malformation [RCV003879056] Chr7:92226545 [GRCh38]
Chr7:91855859 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1905T>G (p.Tyr635Ter) single nucleotide variant Cerebral cavernous malformation [RCV003525296]|not provided [RCV004719351] Chr7:92213315 [GRCh38]
Chr7:91842629 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1254del (p.Tyr419fs) deletion Cerebral cavernous malformation [RCV003525299] Chr7:92225720 [GRCh38]
Chr7:91855034 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.567T>C (p.Asn189=) single nucleotide variant Cerebral cavernous malformation [RCV003524624] Chr7:92235565 [GRCh38]
Chr7:91864879 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.2030T>A (p.Leu677Ter) single nucleotide variant Cerebral cavernous malformation [RCV003524788] Chr7:92201419 [GRCh38]
Chr7:91830733 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1150del (p.His383_Ile384insTer) deletion Cerebral cavernous malformation [RCV003524882] Chr7:92225824 [GRCh38]
Chr7:91855138 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.877del (p.His293fs) deletion Cerebral cavernous malformation [RCV003525300] Chr7:92234561 [GRCh38]
Chr7:91863875 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.601C>T (p.Gln201Ter) single nucleotide variant Cerebral cavernous malformation [RCV003525301] Chr7:92235531 [GRCh38]
Chr7:91864845 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1145G>A (p.Arg382Lys) single nucleotide variant Cerebral cavernous malformation [RCV003522901] Chr7:92226527 [GRCh38]
Chr7:91855841 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2058del (p.Phe686fs) deletion Cerebral cavernous malformation [RCV003524137] Chr7:92201391 [GRCh38]
Chr7:91830705 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1732G>T (p.Glu578Ter) single nucleotide variant Cerebral cavernous malformation [RCV003634822] Chr7:92213978 [GRCh38]
Chr7:91843292 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.935_954del (p.Arg311_Phe312insTer) deletion Cerebral cavernous malformation [RCV003524213] Chr7:92234484..92234503 [GRCh38]
Chr7:91863798..91863817 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1596_1606del (p.Phe532fs) deletion Cerebral cavernous malformation [RCV003523222] Chr7:92214735..92214745 [GRCh38]
Chr7:91844049..91844059 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.594A>G (p.Glu198=) single nucleotide variant Cerebral cavernous malformation [RCV003524307] Chr7:92235538 [GRCh38]
Chr7:91864852 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.506C>G (p.Ala169Gly) single nucleotide variant Cerebral cavernous malformation [RCV003633782] Chr7:92235626 [GRCh38]
Chr7:91864940 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.228C>T (p.Thr76=) single nucleotide variant Cerebral cavernous malformation [RCV003633805] Chr7:92241027 [GRCh38]
Chr7:91870341 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1117A>G (p.Ile373Val) single nucleotide variant Cerebral cavernous malformation [RCV003635083] Chr7:92226555 [GRCh38]
Chr7:91855869 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1731-3C>G single nucleotide variant Cerebral cavernous malformation [RCV003635114] Chr7:92213982 [GRCh38]
Chr7:91843296 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.972dup (p.Ile325fs) duplication Cerebral cavernous malformation [RCV003522230] Chr7:92234465..92234466 [GRCh38]
Chr7:91863779..91863780 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1631A>G (p.Tyr544Cys) single nucleotide variant Cerebral cavernous malformation [RCV003634240] Chr7:92214710 [GRCh38]
Chr7:91844024 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1820dup (p.Asn607fs) duplication Cerebral cavernous malformation [RCV004801495] Chr7:92213399..92213400 [GRCh38]
Chr7:91842713..91842714 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1147-20dup duplication Cerebral cavernous malformation [RCV003523935] Chr7:92225846..92225847 [GRCh38]
Chr7:91855160..91855161 [GRCh37]
Chr7:7q21.2		 benign
NM_194454.3(KRIT1):c.1680A>G (p.Gln560=) single nucleotide variant Cerebral cavernous malformation [RCV003634346] Chr7:92214661 [GRCh38]
Chr7:91843975 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.103-6T>G single nucleotide variant Cerebral cavernous malformation [RCV003524029] Chr7:92241158 [GRCh38]
Chr7:91870472 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1342A>G (p.Met448Val) single nucleotide variant Cerebral cavernous malformation [RCV003633389] Chr7:92222891 [GRCh38]
Chr7:91852205 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1096G>A (p.Gly366Arg) single nucleotide variant Cerebral cavernous malformation [RCV003634902] Chr7:92226576 [GRCh38]
Chr7:91855890 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2038dup (p.Ser680fs) duplication Cerebral cavernous malformation [RCV003633098] Chr7:92201410..92201411 [GRCh38]
Chr7:91830724..91830725 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.938C>T (p.Ser313Leu) single nucleotide variant Cerebral cavernous malformation [RCV003635132] Chr7:92234500 [GRCh38]
Chr7:91863814 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.103-7A>T single nucleotide variant Cerebral cavernous malformation [RCV003633209] Chr7:92241159 [GRCh38]
Chr7:91870473 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.891T>A (p.Cys297Ter) single nucleotide variant Cerebral cavernous malformation [RCV003523949] Chr7:92234547 [GRCh38]
Chr7:91863861 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1214_1215dup (p.Glu406fs) duplication Cerebral cavernous malformation [RCV003633060] Chr7:92225758..92225759 [GRCh38]
Chr7:91855072..91855073 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.729+2T>G single nucleotide variant Cerebral cavernous malformation [RCV003635123] Chr7:92235401 [GRCh38]
Chr7:91864715 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.405A>C (p.Leu135Phe) single nucleotide variant Cerebral cavernous malformation [RCV003635303] Chr7:92236493 [GRCh38]
Chr7:91865807 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1261A>T (p.Lys421Ter) single nucleotide variant Cerebral cavernous malformation [RCV003523653] Chr7:92222972 [GRCh38]
Chr7:91852286 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.485+13G>A single nucleotide variant Cerebral cavernous malformation [RCV003634770] Chr7:92236400 [GRCh38]
Chr7:91865714 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.847G>T (p.Glu283Ter) single nucleotide variant Cerebral cavernous malformation [RCV003524200] Chr7:92234591 [GRCh38]
Chr7:91863905 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1549G>T (p.Glu517Ter) single nucleotide variant Cerebral cavernous malformation [RCV003635347] Chr7:92221916 [GRCh38]
Chr7:91851230 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.486-1G>T single nucleotide variant Cerebral cavernous malformation [RCV003524026] Chr7:92235647 [GRCh38]
Chr7:91864961 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1731-14A>C single nucleotide variant Cerebral cavernous malformation [RCV003634108] Chr7:92213993 [GRCh38]
Chr7:91843307 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.120del (p.Ile42fs) deletion Cerebral cavernous malformation [RCV003524521] Chr7:92241135 [GRCh38]
Chr7:91870449 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1480T>C (p.Leu494=) single nucleotide variant Cerebral cavernous malformation [RCV003842501] Chr7:92221985 [GRCh38]
Chr7:91851299 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1747_1756del (p.Ser583fs) deletion Cerebral cavernous malformation [RCV003989051] Chr7:92213954..92213963 [GRCh38]
Chr7:91843268..91843277 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1593_1594del (p.Leu531_Phe532insTer) microsatellite KRIT1-related disorder [RCV004548990] Chr7:92214747..92214748 [GRCh38]
Chr7:91844061..91844062 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2151C>T (p.Leu717=) single nucleotide variant KRIT1-related disorder [RCV004550874] Chr7:92200796 [GRCh38]
Chr7:91830110 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.2140C>T (p.Gln714Ter) single nucleotide variant not provided [RCV003886923] Chr7:92201309 [GRCh38]
Chr7:91830623 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.549T>G (p.Leu183=) single nucleotide variant Inborn genetic diseases [RCV004636881]|KRIT1-related disorder [RCV004550848] Chr7:92235583 [GRCh38]
Chr7:91864897 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.525A>C (p.Pro175=) single nucleotide variant KRIT1-related disorder [RCV004548824] Chr7:92235607 [GRCh38]
Chr7:91864921 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1292A>G (p.Tyr431Cys) single nucleotide variant Inborn genetic diseases [RCV004525051] Chr7:92222941 [GRCh38]
Chr7:91852255 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1640C>T (p.Pro547Leu) single nucleotide variant Inborn genetic diseases [RCV004525052] Chr7:92214701 [GRCh38]
Chr7:91844015 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.280A>G (p.Met94Val) single nucleotide variant Cerebral cavernous malformation [RCV004560385] Chr7:92237742 [GRCh38]
Chr7:91867056 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.879_880delinsTT (p.Arg294Ter) indel Cerebral cavernous malformation [RCV004560374] Chr7:92234558..92234559 [GRCh38]
Chr7:91863872..91863873 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.1220C>G (p.Ala407Gly) single nucleotide variant Inborn genetic diseases [RCV004644402] Chr7:92225754 [GRCh38]
Chr7:91855068 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.416T>C (p.Met139Thr) single nucleotide variant Inborn genetic diseases [RCV004633693] Chr7:92236482 [GRCh38]
Chr7:91865796 [GRCh37]
Chr7:7q21.2		 uncertain significance
NC_000007.13:g.(?_91830050)_(91830138_?)del deletion Cerebral cavernous malformation [RCV004583514] Chr7:91830050..91830138 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1230G>T (p.Leu410Phe) single nucleotide variant Inborn genetic diseases [RCV004644401] Chr7:92225744 [GRCh38]
Chr7:91855058 [GRCh37]
Chr7:7q21.2		 uncertain significance
NC_000007.13:g.(?_91843186)_(91844111_?)del deletion Cerebral cavernous malformation [RCV004583515] Chr7:91843186..91844111 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.699G>T (p.Leu233Phe) single nucleotide variant Inborn genetic diseases [RCV004633695] Chr7:92235433 [GRCh38]
Chr7:91864747 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.2014A>G (p.Met672Val) single nucleotide variant not specified [RCV004703108] Chr7:92213206 [GRCh38]
Chr7:91842520 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.260G>C (p.Arg87Thr) single nucleotide variant not provided [RCV004770934] Chr7:92240995 [GRCh38]
Chr7:91870309 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1256A>G (p.Tyr419Cys) single nucleotide variant not provided [RCV004793076] Chr7:92222977 [GRCh38]
Chr7:91852291 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.976C>T (p.His326Tyr) single nucleotide variant not provided [RCV004793077] Chr7:92234462 [GRCh38]
Chr7:91863776 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.524C>T (p.Pro175Leu) single nucleotide variant not provided [RCV004761431]   uncertain significance
NM_194454.3(KRIT1):c.1320del (p.Asn440fs) deletion KRIT1-related disorder [RCV004730611] Chr7:92222913 [GRCh38]
Chr7:91852227 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.1993A>C (p.Lys665Gln) single nucleotide variant not provided [RCV004760095]   uncertain significance
NM_194454.3(KRIT1):c.1168A>G (p.Arg390Gly) single nucleotide variant not provided [RCV004775151] Chr7:92225806 [GRCh38]
Chr7:91855120 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1816A>G (p.Lys606Glu) single nucleotide variant not provided [RCV004770593] Chr7:92213894 [GRCh38]
Chr7:91843208 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.158del (p.Leu53fs) deletion Cerebral cavernous malformation [RCV004759572]   pathogenic
NM_194454.3(KRIT1):c.557dup (p.Thr188fs) duplication KRIT1-related disorder [RCV004731870] Chr7:92235574..92235575 [GRCh38]
Chr7:91864888..91864889 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.2044A>T (p.Lys682Ter) single nucleotide variant Cerebral cavernous malformation [RCV004720205] Chr7:92201405 [GRCh38]
Chr7:91830719 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_194454.3(KRIT1):c.824T>C (p.Met275Thr) single nucleotide variant Inborn genetic diseases [RCV004984247] Chr7:92234829 [GRCh38]
Chr7:91864143 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1454G>A (p.Arg485His) single nucleotide variant Inborn genetic diseases [RCV004984248] Chr7:92222011 [GRCh38]
Chr7:91851325 [GRCh37]
Chr7:7q21.2		 likely benign
NM_194454.3(KRIT1):c.1253del (p.Pro418fs) deletion Cerebral cavernous malformation [RCV004823293] Chr7:92225721 [GRCh38]
Chr7:91855035 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_194454.3(KRIT1):c.2137A>G (p.Lys713Glu) single nucleotide variant Inborn genetic diseases [RCV004984249] Chr7:92201312 [GRCh38]
Chr7:91830626 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_194454.3(KRIT1):c.1487dup (p.Asn496fs) duplication not provided [RCV004997587] Chr7:92221977..92221978 [GRCh38]
Chr7:91851291..91851292 [GRCh37]
Chr7:7q21.2		 pathogenic
GRCh37/hg19 7q11.23-21.3(chr7:74666254-97791584)x1 copy number loss not provided [RCV004819352] Chr7:74666254..97791584 [GRCh37]
Chr7:7q11.23-21.3		 pathogenic
GRCh37/hg19 7q21.2(chr7:91737874-92247201)x1 copy number loss not provided [RCV004819353] Chr7:91737874..92247201 [GRCh37]
Chr7:7q21.2		 pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3246
Count of miRNA genes:978
Interacting mature miRNAs:1148
Transcripts:ENST00000340022, ENST00000394503, ENST00000394505, ENST00000394507, ENST00000412043, ENST00000413688, ENST00000422347, ENST00000425073, ENST00000425919, ENST00000430102, ENST00000433016, ENST00000440209, ENST00000444960, ENST00000445516, ENST00000452773, ENST00000454017, ENST00000458177, ENST00000458493, ENST00000466166, ENST00000470309, ENST00000475770, ENST00000486261, ENST00000487168, ENST00000489087
Prediction methods:Microtar, Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597473769GWAS1569843_Hcoffee consumption measurement QTL GWAS1569843 (human)0.0000001coffee consumption measurement79223438692234387Human
597023475GWAS1119549_Hbreast carcinoma QTL GWAS1119549 (human)1e-09mammary gland integrity trait (VT:0010552)79224355892243560Human

Markers in Region
G49243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,850,758 - 91,851,072UniSTSGRCh37
Build 36791,688,694 - 91,689,008RGDNCBI36
Celera786,555,313 - 86,555,627RGD
Cytogenetic Map7q21.2UniSTS
HuRef786,458,839 - 86,459,153UniSTS
CRA_TCAGchr7v2791,179,992 - 91,180,306UniSTS
D7S535E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,863,788 - 91,863,854UniSTSGRCh37
Build 36791,701,724 - 91,701,790RGDNCBI36
Celera786,568,339 - 86,568,405RGD
Cytogenetic Map7q21.2UniSTS
HuRef786,471,865 - 86,471,931UniSTS
CRA_TCAGchr7v2791,193,020 - 91,193,086UniSTS
GeneMap99-GB4 RH Map7472.26UniSTS
NCBI RH Map71021.3UniSTS
CCM1__4528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,828,531 - 91,829,414UniSTSGRCh37
Build 36791,666,467 - 91,667,350RGDNCBI36
Celera786,533,083 - 86,533,966RGD
HuRef786,436,193 - 86,437,076UniSTS
CRA_TCAGchr7v2791,157,764 - 91,158,647UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1953 465 2270 7308 6474 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001013406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_194454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_194455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_194456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC000120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF296765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF310133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF388384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ294850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY993944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY993945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ070587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LR596209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LR596210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U90268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U90269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000340022   ⟹   ENSP00000344668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,413 - 92,246,100 (-)Ensembl
Ensembl Acc Id: ENST00000394503   ⟹   ENSP00000378011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,200,373 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000394505   ⟹   ENSP00000378013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,413 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000394507   ⟹   ENSP00000378015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,198,969 - 92,246,100 (-)Ensembl
Ensembl Acc Id: ENST00000412043   ⟹   ENSP00000410909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,200,358 - 92,245,795 (-)Ensembl
Ensembl Acc Id: ENST00000413688   ⟹   ENSP00000410467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,240,229 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000422347   ⟹   ENSP00000395604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,239,764 - 92,246,057 (-)Ensembl
Ensembl Acc Id: ENST00000425073   ⟹   ENSP00000404790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000425919   ⟹   ENSP00000414694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,240,229 - 92,245,819 (-)Ensembl
Ensembl Acc Id: ENST00000430102   ⟹   ENSP00000391540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,236,244 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000433016   ⟹   ENSP00000410104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,200,458 - 92,245,920 (-)Ensembl
Ensembl Acc Id: ENST00000440209   ⟹   ENSP00000396042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,237,686 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000444960   ⟹   ENSP00000388076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,246,023 (-)Ensembl
Ensembl Acc Id: ENST00000445516   ⟹   ENSP00000404084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,200,530 - 92,245,926 (-)Ensembl
Ensembl Acc Id: ENST00000452773   ⟹   ENSP00000395346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,241,102 - 92,245,926 (-)Ensembl
Ensembl Acc Id: ENST00000454017   ⟹   ENSP00000405835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,448 - 92,245,908 (-)Ensembl
Ensembl Acc Id: ENST00000458177   ⟹   ENSP00000391675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,246,166 (-)Ensembl
Ensembl Acc Id: ENST00000458493   ⟹   ENSP00000396352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,144,741 - 92,245,943 (-)Ensembl
Ensembl Acc Id: ENST00000466166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,244,050 - 92,245,924 (-)Ensembl
Ensembl Acc Id: ENST00000470309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,240,849 - 92,244,149 (-)Ensembl
Ensembl Acc Id: ENST00000475770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,235,883 (-)Ensembl
Ensembl Acc Id: ENST00000486261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,413 - 92,241,119 (-)Ensembl
Ensembl Acc Id: ENST00000487168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,200,424 - 92,203,621 (-)Ensembl
Ensembl Acc Id: ENST00000489087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,239,833 - 92,245,908 (-)Ensembl
Ensembl Acc Id: ENST00000650585   ⟹   ENSP00000498010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,144,723 - 92,245,908 (-)Ensembl
Ensembl Acc Id: ENST00000684808   ⟹   ENSP00000508621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,246,113 (-)Ensembl
Ensembl Acc Id: ENST00000685285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,233,706 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000685431   ⟹   ENSP00000509995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,200,111 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000686043   ⟹   ENSP00000510108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000686094   ⟹   ENSP00000510015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,941 (-)Ensembl
Ensembl Acc Id: ENST00000686149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,238,734 (-)Ensembl
Ensembl Acc Id: ENST00000686233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,200,553 - 92,245,912 (-)Ensembl
Ensembl Acc Id: ENST00000686527   ⟹   ENSP00000509139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,920 (-)Ensembl
Ensembl Acc Id: ENST00000686619   ⟹   ENSP00000509512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,456 - 92,245,908 (-)Ensembl
Ensembl Acc Id: ENST00000686785   ⟹   ENSP00000508596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,908 (-)Ensembl
Ensembl Acc Id: ENST00000687135   ⟹   ENSP00000509617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,759 (-)Ensembl
Ensembl Acc Id: ENST00000687517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,239,760 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000687627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,211,554 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000687876   ⟹   ENSP00000509086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,913 (-)Ensembl
Ensembl Acc Id: ENST00000688180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,197,498 - 92,223,261 (-)Ensembl
Ensembl Acc Id: ENST00000688196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,211,632 - 92,245,877 (-)Ensembl
Ensembl Acc Id: ENST00000688314   ⟹   ENSP00000510229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,875 (-)Ensembl
Ensembl Acc Id: ENST00000688404   ⟹   ENSP00000509939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,874 (-)Ensembl
Ensembl Acc Id: ENST00000688580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,456 - 92,227,076 (-)Ensembl
Ensembl Acc Id: ENST00000688665   ⟹   ENSP00000509209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,920 (-)Ensembl
Ensembl Acc Id: ENST00000688766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,456 - 92,245,858 (-)Ensembl
Ensembl Acc Id: ENST00000688781   ⟹   ENSP00000510196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,912 (-)Ensembl
Ensembl Acc Id: ENST00000689082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,238,843 (-)Ensembl
Ensembl Acc Id: ENST00000689411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,920 (-)Ensembl
Ensembl Acc Id: ENST00000689539   ⟹   ENSP00000510360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,200,315 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000689556   ⟹   ENSP00000508543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,906 (-)Ensembl
Ensembl Acc Id: ENST00000689778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,456 - 92,245,908 (-)Ensembl
Ensembl Acc Id: ENST00000689789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,239,827 - 92,245,877 (-)Ensembl
Ensembl Acc Id: ENST00000690292   ⟹   ENSP00000510303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,858 (-)Ensembl
Ensembl Acc Id: ENST00000690529   ⟹   ENSP00000510733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,920 (-)Ensembl
Ensembl Acc Id: ENST00000690720   ⟹   ENSP00000509832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000690751   ⟹   ENSP00000509101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000690904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,912 (-)Ensembl
Ensembl Acc Id: ENST00000690908   ⟹   ENSP00000510110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000691222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,239,747 - 92,245,860 (-)Ensembl
Ensembl Acc Id: ENST00000691239   ⟹   ENSP00000508475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,246,023 (-)Ensembl
Ensembl Acc Id: ENST00000691622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,234,111 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000691827   ⟹   ENSP00000508551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000691890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,239,877 - 92,245,835 (-)Ensembl
Ensembl Acc Id: ENST00000691972   ⟹   ENSP00000510591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,144,793 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000692000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,212,311 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000692157   ⟹   ENSP00000509514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000692205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,210,626 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000692361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,456 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000692428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,233,490 - 92,245,920 (-)Ensembl
Ensembl Acc Id: ENST00000692690   ⟹   ENSP00000509642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,420 - 92,245,914 (-)Ensembl
Ensembl Acc Id: ENST00000692807   ⟹   ENSP00000508564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,289 - 92,245,923 (-)Ensembl
Ensembl Acc Id: ENST00000693563   ⟹   ENSP00000510120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,199,572 - 92,242,164 (-)Ensembl
RefSeq Acc Id: NM_001013406   ⟹   NP_001013424
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
GRCh37791,828,283 - 91,875,414 (-)ENTREZGENE
Build 36791,666,219 - 91,713,164 (-)NCBI Archive
HuRef786,435,945 - 86,483,492 (-)ENTREZGENE
CHM1_1791,758,320 - 91,805,264 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
CRA_TCAGchr7v2791,157,516 - 91,204,647 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001350669   ⟹   NP_001337598
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350670   ⟹   NP_001337599
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350671   ⟹   NP_001337600
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350672   ⟹   NP_001337601
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350673   ⟹   NP_001337602
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350674   ⟹   NP_001337603
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350675   ⟹   NP_001337604
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350676   ⟹   NP_001337605
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350677   ⟹   NP_001337606
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350678   ⟹   NP_001337607
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350679   ⟹   NP_001337608
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350680   ⟹   NP_001337609
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350681   ⟹   NP_001337610
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350682   ⟹   NP_001337611
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350683   ⟹   NP_001337612
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350684   ⟹   NP_001337613
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350685   ⟹   NP_001337614
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350686   ⟹   NP_001337615
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350687   ⟹   NP_001337616
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350688   ⟹   NP_001337617
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350689   ⟹   NP_001337618
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350690   ⟹   NP_001337619
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350691   ⟹   NP_001337620
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350692   ⟹   NP_001337621
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350693   ⟹   NP_001337622
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350694   ⟹   NP_001337623
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350695   ⟹   NP_001337624
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350696   ⟹   NP_001337625
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350697   ⟹   NP_001337626
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004912   ⟹   NP_004903
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
GRCh37791,828,283 - 91,875,414 (-)ENTREZGENE
Build 36791,666,219 - 91,713,148 (-)NCBI Archive
HuRef786,435,945 - 86,483,492 (-)ENTREZGENE
CHM1_1791,758,320 - 91,805,248 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
CRA_TCAGchr7v2791,157,516 - 91,204,647 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_194454   ⟹   NP_919436
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,199,413 - 92,245,914 (-)NCBI
GRCh37791,828,283 - 91,875,414 (-)ENTREZGENE
Build 36791,666,219 - 91,713,164 (-)NCBI Archive
HuRef786,435,945 - 86,483,492 (-)ENTREZGENE
CHM1_1791,758,320 - 91,805,264 (-)NCBI
T2T-CHM13v2.0793,440,701 - 93,487,201 (-)NCBI
CRA_TCAGchr7v2791,157,516 - 91,204,647 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_194455   ⟹   NP_919437
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
GRCh37791,828,283 - 91,875,414 (-)ENTREZGENE
Build 36791,666,219 - 91,713,350 (-)NCBI Archive
HuRef786,435,945 - 86,483,492 (-)ENTREZGENE
CHM1_1791,758,320 - 91,805,450 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
CRA_TCAGchr7v2791,157,516 - 91,204,647 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_194456   ⟹   NP_919438
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,198,969 - 92,246,100 (-)NCBI
GRCh37791,828,283 - 91,875,414 (-)ENTREZGENE
Build 36791,666,219 - 91,713,350 (-)NCBI Archive
HuRef786,435,945 - 86,483,492 (-)ENTREZGENE
CHM1_1791,758,320 - 91,805,450 (-)NCBI
T2T-CHM13v2.0793,440,257 - 93,487,387 (-)NCBI
CRA_TCAGchr7v2791,157,516 - 91,204,647 (-)ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_001013424 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337598 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337599 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337600 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337601 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337602 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337603 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337604 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337605 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337606 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337607 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337608 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337609 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337610 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337611 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337612 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337613 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337614 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337615 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337616 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337617 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337618 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337619 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337620 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337621 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337622 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337623 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337624 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337625 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337626 (Get FASTA)   NCBI Sequence Viewer  
  NP_004903 (Get FASTA)   NCBI Sequence Viewer  
  NP_919436 (Get FASTA)   NCBI Sequence Viewer  
  NP_919437 (Get FASTA)   NCBI Sequence Viewer  
  NP_919438 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB58582 (Get FASTA)   NCBI Sequence Viewer  
  AAC01535 (Get FASTA)   NCBI Sequence Viewer  
  AAG10220 (Get FASTA)   NCBI Sequence Viewer  
  AAG47774 (Get FASTA)   NCBI Sequence Viewer  
  AAH94684 (Get FASTA)   NCBI Sequence Viewer  
  AAM19465 (Get FASTA)   NCBI Sequence Viewer  
  AAQ94072 (Get FASTA)   NCBI Sequence Viewer  
  AAQ94073 (Get FASTA)   NCBI Sequence Viewer  
  AAQ94074 (Get FASTA)   NCBI Sequence Viewer  
  AAQ94075 (Get FASTA)   NCBI Sequence Viewer  
  AAS07420 (Get FASTA)   NCBI Sequence Viewer  
  AAY25567 (Get FASTA)   NCBI Sequence Viewer  
  AAY25568 (Get FASTA)   NCBI Sequence Viewer  
  BAG51497 (Get FASTA)   NCBI Sequence Viewer  
  BAG51741 (Get FASTA)   NCBI Sequence Viewer  
  CAC17608 (Get FASTA)   NCBI Sequence Viewer  
  EAL24152 (Get FASTA)   NCBI Sequence Viewer  
  EAW76854 (Get FASTA)   NCBI Sequence Viewer  
  EAW76855 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000344668
  ENSP00000344668.2
  ENSP00000378011
  ENSP00000378011.2
  ENSP00000378013
  ENSP00000378013.2
  ENSP00000378015
  ENSP00000378015.1
  ENSP00000388076
  ENSP00000388076.2
  ENSP00000391675
  ENSP00000391675.2
  ENSP00000395346.2
  ENSP00000396042.1
  ENSP00000396352.2
  ENSP00000404084.2
  ENSP00000404790
  ENSP00000404790.2
  ENSP00000405835.2
  ENSP00000410104.2
  ENSP00000410909
  ENSP00000410909.2
  ENSP00000498010.2
  ENSP00000508475.1
  ENSP00000508543
  ENSP00000508543.1
  ENSP00000508551.1
  ENSP00000508564
  ENSP00000508564.1
  ENSP00000508596.1
  ENSP00000508621.1
  ENSP00000509086.1
  ENSP00000509101.1
  ENSP00000509139
  ENSP00000509139.1
  ENSP00000509209
  ENSP00000509209.1
  ENSP00000509512.1
  ENSP00000509514
  ENSP00000509514.1
  ENSP00000509617
  ENSP00000509617.1
  ENSP00000509642.1
  ENSP00000509832
  ENSP00000509832.1
  ENSP00000509939.1
  ENSP00000509995.1
  ENSP00000510015
  ENSP00000510015.1
  ENSP00000510108.1
  ENSP00000510110.1
  ENSP00000510120.1
  ENSP00000510196.1
  ENSP00000510229.1
  ENSP00000510303.1
  ENSP00000510360.1
  ENSP00000510591.1
  ENSP00000510733
  ENSP00000510733.1
GenBank Protein O00522 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_919438   ⟸   NM_194456
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_919437   ⟸   NM_194455
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001013424   ⟸   NM_001013406
- Peptide Label: isoform 2
- UniProtKB: A0A8I5KW41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_919436   ⟸   NM_194454
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004903   ⟸   NM_004912
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337601   ⟸   NM_001350672
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337605   ⟸   NM_001350676
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337602   ⟸   NM_001350673
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337604   ⟸   NM_001350675
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337606   ⟸   NM_001350677
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337603   ⟸   NM_001350674
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337609   ⟸   NM_001350680
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337607   ⟸   NM_001350678
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337608   ⟸   NM_001350679
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337618   ⟸   NM_001350689
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337598   ⟸   NM_001350669
- Peptide Label: isoform 2
- UniProtKB: A0A8I5KW41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337614   ⟸   NM_001350685
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337616   ⟸   NM_001350687
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337617   ⟸   NM_001350688
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337613   ⟸   NM_001350684
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337619   ⟸   NM_001350690
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337599   ⟸   NM_001350670
- Peptide Label: isoform 2
- UniProtKB: A0A8I5KW41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337625   ⟸   NM_001350696
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337626   ⟸   NM_001350697
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337623   ⟸   NM_001350694
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337611   ⟸   NM_001350682
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337612   ⟸   NM_001350683
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337622   ⟸   NM_001350693
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337610   ⟸   NM_001350681
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337620   ⟸   NM_001350691
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337600   ⟸   NM_001350671
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001337615   ⟸   NM_001350686
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337624   ⟸   NM_001350695
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337621   ⟸   NM_001350692
- Peptide Label: isoform 1
- UniProtKB: Q9H264 (UniProtKB/Swiss-Prot),   Q9H180 (UniProtKB/Swiss-Prot),   Q75N19 (UniProtKB/Swiss-Prot),   Q6U276 (UniProtKB/Swiss-Prot),   Q506L6 (UniProtKB/Swiss-Prot),   O43894 (UniProtKB/Swiss-Prot),   O00522 (UniProtKB/Swiss-Prot),   A6NNU0 (UniProtKB/Swiss-Prot),   Q9HAX5 (UniProtKB/Swiss-Prot),   A4D1F7 (UniProtKB/TrEMBL),   A0A8I5KUF9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000404790   ⟸   ENST00000425073
Ensembl Acc Id: ENSP00000414694   ⟸   ENST00000425919
Ensembl Acc Id: ENSP00000410909   ⟸   ENST00000412043
Ensembl Acc Id: ENSP00000395346   ⟸   ENST00000452773
Ensembl Acc Id: ENSP00000410467   ⟸   ENST00000413688
Ensembl Acc Id: ENSP00000405835   ⟸   ENST00000454017
Ensembl Acc Id: ENSP00000498010   ⟸   ENST00000650585
Ensembl Acc Id: ENSP00000396042   ⟸   ENST00000440209
Ensembl Acc Id: ENSP00000391540   ⟸   ENST00000430102
Ensembl Acc Id: ENSP00000396352   ⟸   ENST00000458493
Ensembl Acc Id: ENSP00000391675   ⟸   ENST00000458177
Ensembl Acc Id: ENSP00000388076   ⟸   ENST00000444960
Ensembl Acc Id: ENSP00000404084   ⟸   ENST00000445516
Ensembl Acc Id: ENSP00000344668   ⟸   ENST00000340022
Ensembl Acc Id: ENSP00000410104   ⟸   ENST00000433016
Ensembl Acc Id: ENSP00000378015   ⟸   ENST00000394507
Ensembl Acc Id: ENSP00000378013   ⟸   ENST00000394505
Ensembl Acc Id: ENSP00000378011   ⟸   ENST00000394503
Ensembl Acc Id: ENSP00000395604   ⟸   ENST00000422347
Ensembl Acc Id: ENSP00000508475   ⟸   ENST00000691239
Ensembl Acc Id: ENSP00000509832   ⟸   ENST00000690720
Ensembl Acc Id: ENSP00000510303   ⟸   ENST00000690292
Ensembl Acc Id: ENSP00000508551   ⟸   ENST00000691827
Ensembl Acc Id: ENSP00000508564   ⟸   ENST00000692807
Ensembl Acc Id: ENSP00000509209   ⟸   ENST00000688665
Ensembl Acc Id: ENSP00000510591   ⟸   ENST00000691972
Ensembl Acc Id: ENSP00000509995   ⟸   ENST00000685431
Ensembl Acc Id: ENSP00000509939   ⟸   ENST00000688404
Ensembl Acc Id: ENSP00000509101   ⟸   ENST00000690751
Ensembl Acc Id: ENSP00000510120   ⟸   ENST00000693563
Ensembl Acc Id: ENSP00000508621   ⟸   ENST00000684808
Ensembl Acc Id: ENSP00000509514   ⟸   ENST00000692157
Ensembl Acc Id: ENSP00000508596   ⟸   ENST00000686785
Ensembl Acc Id: ENSP00000509086   ⟸   ENST00000687876
Ensembl Acc Id: ENSP00000509642   ⟸   ENST00000692690
Ensembl Acc Id: ENSP00000509617   ⟸   ENST00000687135
Ensembl Acc Id: ENSP00000510015   ⟸   ENST00000686094
Ensembl Acc Id: ENSP00000509512   ⟸   ENST00000686619
Ensembl Acc Id: ENSP00000510196   ⟸   ENST00000688781
Ensembl Acc Id: ENSP00000509139   ⟸   ENST00000686527
Ensembl Acc Id: ENSP00000510360   ⟸   ENST00000689539
Ensembl Acc Id: ENSP00000510110   ⟸   ENST00000690908
Ensembl Acc Id: ENSP00000510108   ⟸   ENST00000686043
Ensembl Acc Id: ENSP00000510229   ⟸   ENST00000688314
Ensembl Acc Id: ENSP00000510733   ⟸   ENST00000690529
Ensembl Acc Id: ENSP00000508543   ⟸   ENST00000689556
Protein Domains
Death   FERM   KRIT N-terminal NPxY motif-rich region

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00522-F1-model_v2 AlphaFold O00522 1-736 view protein structure

Promoters
RGD ID:6805859
Promoter ID:HG_KWN:58558
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000312763,   NM_001013406,   NM_004912,   NM_019004,   NM_194455,   NM_194456,   OTTHUMT00000342029,   OTTHUMT00000342031,   OTTHUMT00000342035,   OTTHUMT00000342036,   OTTHUMT00000342037,   OTTHUMT00000342038,   OTTHUMT00000342039,   OTTHUMT00000342040,   OTTHUMT00000342041,   OTTHUMT00000342042,   OTTHUMT00000342043,   OTTHUMT00000342044,   OTTHUMT00000342045,   OTTHUMT00000342046,   OTTHUMT00000342047,   UC003ULQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36791,712,951 - 91,714,087 (-)MPROMDB
RGD ID:7211049
Promoter ID:EPDNEW_H11270
Type:initiation region
Name:KRIT1_1
Description:KRIT1, ankyrin repeat containing
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11272  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,245,914 - 92,245,974EPDNEW
RGD ID:7211053
Promoter ID:EPDNEW_H11272
Type:initiation region
Name:KRIT1_2
Description:KRIT1, ankyrin repeat containing
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11270  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,246,128 - 92,246,188EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1573 AgrOrtholog
COSMIC KRIT1 COSMIC
Ensembl Genes ENSG00000001631 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285953 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENST00000340022 ENTREZGENE
  ENST00000340022.6 UniProtKB/Swiss-Prot
  ENST00000394503 ENTREZGENE
  ENST00000394503.6 UniProtKB/Swiss-Prot
  ENST00000394505 ENTREZGENE
  ENST00000394505.7 UniProtKB/Swiss-Prot
  ENST00000394507 ENTREZGENE
  ENST00000394507.5 UniProtKB/Swiss-Prot
  ENST00000412043 ENTREZGENE
  ENST00000412043.6 UniProtKB/Swiss-Prot
  ENST00000425073 UniProtKB/TrEMBL
  ENST00000425073.2 UniProtKB/Swiss-Prot
  ENST00000433016.6 UniProtKB/TrEMBL
  ENST00000440209.5 UniProtKB/TrEMBL
  ENST00000444960 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000444960.6 UniProtKB/Swiss-Prot
  ENST00000445516.2 UniProtKB/TrEMBL
  ENST00000452773.6 UniProtKB/TrEMBL
  ENST00000454017.6 UniProtKB/TrEMBL
  ENST00000458177 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000458177.7 UniProtKB/Swiss-Prot
  ENST00000458493.6 UniProtKB/TrEMBL
  ENST00000650585.2 UniProtKB/TrEMBL
  ENST00000684808.1 UniProtKB/TrEMBL
  ENST00000685431.1 UniProtKB/TrEMBL
  ENST00000686043.1 UniProtKB/TrEMBL
  ENST00000686094 ENTREZGENE
  ENST00000686094.1 UniProtKB/Swiss-Prot
  ENST00000686527 ENTREZGENE
  ENST00000686527.1 UniProtKB/Swiss-Prot
  ENST00000686619.1 UniProtKB/TrEMBL
  ENST00000686785.1 UniProtKB/TrEMBL
  ENST00000687135 ENTREZGENE
  ENST00000687135.1 UniProtKB/Swiss-Prot
  ENST00000687876.1 UniProtKB/TrEMBL
  ENST00000688314.1 UniProtKB/TrEMBL
  ENST00000688404.1 UniProtKB/Swiss-Prot
  ENST00000688665 ENTREZGENE
  ENST00000688665.1 UniProtKB/Swiss-Prot
  ENST00000688781.1 UniProtKB/TrEMBL
  ENST00000689539.1 UniProtKB/TrEMBL
  ENST00000689556 ENTREZGENE
  ENST00000689556.1 UniProtKB/Swiss-Prot
  ENST00000690292.1 UniProtKB/TrEMBL
  ENST00000690529 ENTREZGENE
  ENST00000690529.1 UniProtKB/Swiss-Prot
  ENST00000690720 ENTREZGENE
  ENST00000690720.1 UniProtKB/Swiss-Prot
  ENST00000690751.1 UniProtKB/TrEMBL
  ENST00000690908.1 UniProtKB/Swiss-Prot
  ENST00000691239.1 UniProtKB/TrEMBL
  ENST00000691827.1 UniProtKB/TrEMBL
  ENST00000691972.1 UniProtKB/TrEMBL
  ENST00000692157 ENTREZGENE
  ENST00000692157.1 UniProtKB/Swiss-Prot
  ENST00000692690.1 UniProtKB/TrEMBL
  ENST00000692807 ENTREZGENE
  ENST00000692807.1 UniProtKB/Swiss-Prot
  ENST00000693563.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.533.10 UniProtKB/TrEMBL
  1.20.80.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.2240 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.80.10.10 UniProtKB/TrEMBL
  Phosphatidylinositol 3-kinase Catalytic Subunit, Chain A, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000001631 GTEx
  ENSG00000285953 GTEx
HGNC ID HGNC:1573 ENTREZGENE
Human Proteome Map KRIT1 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Band_41_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEATH-like_dom_sf UniProtKB/TrEMBL
  Death_domain UniProtKB/TrEMBL
  FERM/acyl-CoA-bd_prot_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_domain_containing UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRIT1_FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/TrEMBL
  NUDIX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUDIX_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:889 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 889 ENTREZGENE
OMIM 604214 OMIM
PANTHER KREV INTERACTION TRAPPED 1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KREV INTERACTION TRAPPED PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/TrEMBL
  Ank_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_1 UniProtKB/TrEMBL
  NUDIX_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26144 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEATH_DOMAIN UniProtKB/TrEMBL
  FERM_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  B41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_TYP UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/TrEMBL
  SSF47031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DG23_HUMAN UniProtKB/TrEMBL
  A0A3B3ITR4_HUMAN UniProtKB/TrEMBL
  A0A8I5KQD8_HUMAN UniProtKB/TrEMBL
  A0A8I5KQH3_HUMAN UniProtKB/TrEMBL
  A0A8I5KRK7_HUMAN UniProtKB/TrEMBL
  A0A8I5KUF9 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KVW5_HUMAN UniProtKB/TrEMBL
  A0A8I5KVY1_HUMAN UniProtKB/TrEMBL
  A0A8I5KVY4_HUMAN UniProtKB/TrEMBL
  A0A8I5KW41 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KWG2_HUMAN UniProtKB/TrEMBL
  A0A8I5KX77_HUMAN UniProtKB/TrEMBL
  A4D1F7 ENTREZGENE, UniProtKB/TrEMBL
  A6NNU0 ENTREZGENE
  C9J718_HUMAN UniProtKB/TrEMBL
  C9JD43_HUMAN UniProtKB/TrEMBL
  C9JD81_HUMAN UniProtKB/TrEMBL
  C9JEW7_HUMAN UniProtKB/TrEMBL
  C9JF32_HUMAN UniProtKB/TrEMBL
  C9JIY2_HUMAN UniProtKB/TrEMBL
  C9JJM9_HUMAN UniProtKB/TrEMBL
  C9JXI9_HUMAN UniProtKB/TrEMBL
  KRIT1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  O43894 ENTREZGENE
  Q506L6 ENTREZGENE
  Q6U276 ENTREZGENE
  Q75N19 ENTREZGENE
  Q9H180 ENTREZGENE
  Q9H264 ENTREZGENE
  Q9HAX5 ENTREZGENE
UniProt Secondary A6NNU0 UniProtKB/Swiss-Prot
  O43894 UniProtKB/Swiss-Prot
  Q506L6 UniProtKB/Swiss-Prot
  Q6U276 UniProtKB/Swiss-Prot
  Q75N19 UniProtKB/Swiss-Prot
  Q9H180 UniProtKB/Swiss-Prot
  Q9H264 UniProtKB/Swiss-Prot
  Q9HAX5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 KRIT1  KRIT1 ankyrin repeat containing    KRIT1, ankyrin repeat containing  Symbol and/or name change 5135510 APPROVED