FOCAD (focadhesin) - Rat Genome Database

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Gene: FOCAD (focadhesin) Homo sapiens
Analyze
Symbol: FOCAD
Name: focadhesin
RGD ID: 1352316
HGNC Page HGNC:23377
Description: Predicted to be involved in regulation of post-transcriptional gene silencing. Located in focal adhesion.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ20375; hypothetical protein LOC54914; KIAA1797; SCOLIV; uncharacterized protein KIAA1797
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh38920,655,625 - 20,995,950 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl920,658,309 - 20,995,955 (+)EnsemblGRCh38hg38GRCh38
GRCh37920,658,308 - 20,995,949 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36920,648,309 - 20,985,954 (+)NCBINCBI36Build 36hg18NCBI36
Build 34920,648,308 - 20,985,954NCBI
Celera920,596,817 - 20,934,232 (+)NCBICelera
Cytogenetic Map9p21.3NCBI
HuRef920,620,945 - 20,958,811 (+)NCBIHuRef
CHM1_1920,658,015 - 20,995,735 (+)NCBICHM1_1
T2T-CHM13v2.0920,669,421 - 21,009,826 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal circulating thyroid hormone concentration  (IAGP)
Abnormal hepatic echogenicity  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormality of coagulation  (IAGP)
Alpha-aminobutyric aciduria  (IAGP)
Aminoaciduria  (IAGP)
Anemia  (IAGP)
Ascites  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Ballooning hepatocyte degeneration  (IAGP)
Biliary hyperplasia  (IAGP)
Blue nevus  (IAGP)
Cardiomegaly  (IAGP)
Cholesteatoma  (IAGP)
Chronic gastritis  (IAGP)
Congenital onset  (IAGP)
Cough  (IAGP)
Cow milk allergy  (IAGP)
Decreased circulating vitamin D concentration  (IAGP)
Decreased circulating vitamin E concentration  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed speech and language development  (IAGP)
Dependency on parenteral nutrition  (IAGP)
Depressed nasal bridge  (IAGP)
Dermal translucency  (IAGP)
Diarrhea  (IAGP)
Dilatation of the ventricular cavity  (IAGP)
Dry hair  (IAGP)
Eczematoid dermatitis  (IAGP)
Elevated brain N-acetyl aspartate level by MRS  (IAGP)
Elevated circulating alpha-fetoprotein concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated hepatic iron concentration  (IAGP)
Epicanthus  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Hepatic encephalopathy  (IAGP)
Hepatic failure  (IAGP)
Hepatic steatosis  (IAGP)
Hepatomegaly  (IAGP)
High forehead  (IAGP)
Hydrocele testis  (IAGP)
Hydronephrosis  (IAGP)
Hyperalaninemia  (IAGP)
Hyperammonemia  (IAGP)
Hyperbilirubinemia  (IAGP)
Hyperechogenic kidneys  (IAGP)
Hyperinsulinemic hypoglycemia  (IAGP)
Hypocalcemia  (IAGP)
Hyponatremia  (IAGP)
Hypoproteinemia  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Inappropriate crying  (IAGP)
Increased circulating ferritin concentration  (IAGP)
Increased hepatic glycogen content  (IAGP)
Infantile onset  (IAGP)
Inguinal hernia  (IAGP)
Intrahepatic cholestasis  (IAGP)
Intrauterine growth retardation  (IAGP)
Irritability  (IAGP)
Jaundice  (IAGP)
Joint hypermobility  (IAGP)
Juvenile onset  (IAGP)
Left atrial enlargement  (IAGP)
Leukopenia  (IAGP)
Lymphocytosis  (IAGP)
Macrocephaly at birth  (IAGP)
Malnutrition  (IAGP)
Metabolic acidosis  (IAGP)
Micrognathia  (IAGP)
Nail dystrophy  (IAGP)
Narrow nasal ridge  (IAGP)
Neonatal onset  (IAGP)
Neurodevelopmental delay  (IAGP)
Nystagmus  (IAGP)
Pancreatic hypoplasia  (IAGP)
Patent ductus arteriosus  (IAGP)
Patent foramen ovale  (IAGP)
Peritonitis  (IAGP)
Plagiocephaly  (IAGP)
Pneumonia  (IAGP)
Poor fine motor coordination  (IAGP)
Portal inflammation  (IAGP)
Proptosis  (IAGP)
Protein-losing enteropathy  (IAGP)
Pulmonary edema  (IAGP)
Recurrent fever  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced circulating vitamin A concentration  (IAGP)
Schizophrenia  (IAGP)
Sepsis  (IAGP)
Short attention span  (IAGP)
Splenomegaly  (IAGP)
Status asthmaticus  (IAGP)
Subvalvular aortic stenosis  (IAGP)
Systolic heart murmur  (IAGP)
Thrombocytopenia  (IAGP)
Triangular face  (IAGP)
Umbilical hernia  (IAGP)
Ventricular septal defect  (IAGP)
Vomiting  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:11347906   PMID:12477932   PMID:14702039   PMID:16344560   PMID:19204726   PMID:20379614   PMID:20601674   PMID:21900206   PMID:22145905   PMID:22427331   PMID:24951543  
PMID:25712196   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26856537   PMID:28514442   PMID:29507755   PMID:29676528   PMID:31473790   PMID:33845483   PMID:33961781  
PMID:35271311   PMID:35622075   PMID:35748872   PMID:35831314   PMID:35864190   PMID:35914814   PMID:35944360   PMID:36215168   PMID:36282215   PMID:36652389   PMID:36724073   PMID:37730964  


Genomics

Comparative Map Data
FOCAD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38920,655,625 - 20,995,950 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl920,658,309 - 20,995,955 (+)EnsemblGRCh38hg38GRCh38
GRCh37920,658,308 - 20,995,949 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36920,648,309 - 20,985,954 (+)NCBINCBI36Build 36hg18NCBI36
Build 34920,648,308 - 20,985,954NCBI
Celera920,596,817 - 20,934,232 (+)NCBICelera
Cytogenetic Map9p21.3NCBI
HuRef920,620,945 - 20,958,811 (+)NCBIHuRef
CHM1_1920,658,015 - 20,995,735 (+)NCBICHM1_1
T2T-CHM13v2.0920,669,421 - 21,009,826 (+)NCBIT2T-CHM13v2.0
Focad
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39488,012,858 - 88,329,248 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl488,012,866 - 88,329,248 (+)EnsemblGRCm39 Ensembl
GRCm38488,094,620 - 88,411,011 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl488,094,629 - 88,411,011 (+)EnsemblGRCm38mm10GRCm38
MGSCv37487,740,534 - 88,056,915 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36487,565,861 - 87,882,242 (+)NCBIMGSCv36mm8
Celera486,619,576 - 86,926,697 (+)NCBICelera
Cytogenetic Map4C4NCBI
cM Map441.4NCBI
Focad
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85107,610,489 - 107,932,485 (+)NCBIGRCr8
mRatBN7.25102,564,560 - 102,886,587 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5102,564,598 - 102,886,582 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.05106,409,411 - 106,729,308 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5106,409,456 - 106,730,684 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05110,390,888 - 110,709,983 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45107,467,537 - 107,704,012 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15107,360,765 - 107,708,917 (+)NCBI
Celera5100,226,285 - 100,542,835 (-)NCBICelera
Cytogenetic Map5q32NCBI
Focad
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543422,951,572 - 23,230,545 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543422,951,571 - 23,230,790 (+)NCBIChiLan1.0ChiLan1.0
FOCAD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211103,551,838 - 103,876,936 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19103,547,279 - 103,882,800 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0920,479,301 - 20,807,365 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1921,145,759 - 21,459,758 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl921,169,176 - 21,459,758 (+)Ensemblpanpan1.1panPan2
FOCAD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11140,265,717 - 40,577,816 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1140,265,640 - 40,577,591 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1138,928,212 - 39,240,145 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01141,207,527 - 41,519,558 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1141,241,965 - 41,519,545 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11139,898,503 - 40,211,709 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01139,681,955 - 40,000,022 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01140,322,038 - 40,635,712 (+)NCBIUU_Cfam_GSD_1.0
Focad
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947154,692,219 - 154,974,020 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366522,361,735 - 2,643,694 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366522,361,776 - 2,643,527 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FOCAD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1201,942,463 - 202,258,794 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11201,938,993 - 202,258,924 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21225,618,600 - 225,842,443 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Focad
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473624,675,545 - 24,999,585 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473624,635,453 - 24,999,908 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FOCAD
319 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3 copy number gain See cases [RCV000053749] Chr9:9543538..30266463 [GRCh38]
Chr9:9543538..30266461 [GRCh37]
Chr9:9533538..30256461 [NCBI36]
Chr9:9p23-21.1		 pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3		 pathogenic
NM_017794.4(FOCAD):c.392+6294G>T single nucleotide variant Lung cancer [RCV000108211] Chr9:20746634 [GRCh38]
Chr9:20746633 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2		 pathogenic
GRCh38/hg38 9p21.3(chr9:20687770-21309178)x1 copy number loss See cases [RCV000137295] Chr9:20687770..21309178 [GRCh38]
Chr9:20687769..21309177 [GRCh37]
Chr9:20677769..21299177 [NCBI36]
Chr9:9p21.3		 uncertain significance
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1 copy number loss See cases [RCV000139905] Chr9:19564275..28106622 [GRCh38]
Chr9:19564273..28106620 [GRCh37]
Chr9:19554273..28096620 [NCBI36]
Chr9:9p22.1-21.1		 pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p21.3(chr9:20951885-22447709)x1 copy number loss See cases [RCV000448195] Chr9:20951885..22447709 [GRCh37]
Chr9:9p21.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p21.3(chr9:20610950-20740733)x1 copy number loss See cases [RCV000448216] Chr9:20610950..20740733 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001375567.1(FOCAD):c.2625+11G>A single nucleotide variant not provided [RCV001653793]|not specified [RCV000454532] Chr9:20885241 [GRCh38]
Chr9:20885240 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.5002A>G (p.Lys1668Glu) single nucleotide variant FOCAD-related disorder [RCV003972706]|not provided [RCV001692114]|not specified [RCV000455149] Chr9:20988427 [GRCh38]
Chr9:20988426 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.497T>C (p.Leu166Ser) single nucleotide variant FOCAD-related disorder [RCV003972705]|not provided [RCV001653792]|not specified [RCV000455620] Chr9:20764871 [GRCh38]
Chr9:20764870 [GRCh37]
Chr9:9p21.3		 benign
GRCh37/hg19 9p22.2-21.1(chr9:17684434-30889762)x3 copy number gain See cases [RCV000510665] Chr9:17684434..30889762 [GRCh37]
Chr9:9p22.2-21.1		 pathogenic
GRCh37/hg19 9p21.3(chr9:20207094-20834093)x3 copy number gain See cases [RCV000510239] Chr9:20207094..20834093 [GRCh37]
Chr9:9p21.3		 likely benign
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 copy number gain See cases [RCV000510425] Chr9:5900425..30008330 [GRCh37]
Chr9:9p24.1-21.1		 pathogenic
GRCh37/hg19 9p21.3(chr9:20684175-21312153)x1 copy number loss See cases [RCV000511958] Chr9:20684175..21312153 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3		 pathogenic
NM_001375567.1(FOCAD):c.3458G>A (p.Ser1153Asn) single nucleotide variant Inborn genetic diseases [RCV003281753] Chr9:20944677 [GRCh38]
Chr9:20944676 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4952T>G (p.Ile1651Ser) single nucleotide variant Inborn genetic diseases [RCV003263259] Chr9:20988377 [GRCh38]
Chr9:20988376 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.719C>T (p.Thr240Ile) single nucleotide variant FOCAD-related disorder [RCV003954077]|Inborn genetic diseases [RCV003249474] Chr9:20770051 [GRCh38]
Chr9:20770050 [GRCh37]
Chr9:9p21.3		 likely benign|uncertain significance
GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626433] Chr9:10320113..26205565 [GRCh37]
Chr9:9p23-21.2		 drug response
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p21.3(chr9:20761903-20814793)x1 copy number loss not provided [RCV000683051] Chr9:20761903..20814793 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
Single allele duplication Schizophrenia [RCV000754362] Chr9:20655425..24580688 [GRCh38]
Chr9:9p21.3		 likely pathogenic
GRCh37/hg19 9p21.3(chr9:20641792-20763840)x3 copy number gain not provided [RCV000748287] Chr9:20641792..20763840 [GRCh37]
Chr9:9p21.3		 benign
GRCh37/hg19 9p21.3(chr9:20834837-22101120)x1 copy number loss not provided [RCV000748288] Chr9:20834837..22101120 [GRCh37]
Chr9:9p21.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3		 pathogenic
NM_001375567.1(FOCAD):c.4132+196G>T single nucleotide variant not provided [RCV001689427] Chr9:20953261 [GRCh38]
Chr9:20953260 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2808-227T>C single nucleotide variant not provided [RCV001679843] Chr9:20916666 [GRCh38]
Chr9:20916665 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.700-209C>T single nucleotide variant not provided [RCV001691575] Chr9:20769823 [GRCh38]
Chr9:20769822 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1921-253G>C single nucleotide variant not provided [RCV001708812] Chr9:20862325 [GRCh38]
Chr9:20862324 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.907-49A>G single nucleotide variant not provided [RCV001691645] Chr9:20778632 [GRCh38]
Chr9:20778631 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1455+234C>T single nucleotide variant not provided [RCV001709234] Chr9:20789842 [GRCh38]
Chr9:20789841 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1455+262A>G single nucleotide variant not provided [RCV001709277] Chr9:20789870 [GRCh38]
Chr9:20789869 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.288-158G>A single nucleotide variant not provided [RCV001667520] Chr9:20740078 [GRCh38]
Chr9:20740077 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3675+202G>A single nucleotide variant not provided [RCV001669120] Chr9:20947022 [GRCh38]
Chr9:20947021 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.4535G>T (p.Gly1512Val) single nucleotide variant FOCAD-related disorder [RCV003958160]|not provided [RCV000902510] Chr9:20981583 [GRCh38]
Chr9:20981582 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.3032A>G (p.Asp1011Gly) single nucleotide variant FOCAD-related disorder [RCV003960822]|not provided [RCV000970201] Chr9:20926371 [GRCh38]
Chr9:20926370 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.5167A>C (p.Arg1723=) single nucleotide variant FOCAD-related disorder [RCV003938405]|not provided [RCV000879014] Chr9:20990285 [GRCh38]
Chr9:20990284 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.3324A>C (p.Ile1108=) single nucleotide variant FOCAD-related disorder [RCV003930619]|not provided [RCV000884451] Chr9:20933020 [GRCh38]
Chr9:20933019 [GRCh37]
Chr9:9p21.3		 benign|likely benign
NM_001375567.1(FOCAD):c.2336C>T (p.Thr779Ile) single nucleotide variant FOCAD-related disorder [RCV003936162]|not provided [RCV000973187] Chr9:20881889 [GRCh38]
Chr9:20881888 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.3335A>C (p.Glu1112Ala) single nucleotide variant FOCAD-related disorder [RCV003978179]|not provided [RCV000948813] Chr9:20933031 [GRCh38]
Chr9:20933030 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3546G>A (p.Thr1182=) single nucleotide variant FOCAD-related disorder [RCV003972917]|not provided [RCV000971288] Chr9:20944765 [GRCh38]
Chr9:20944764 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3297C>T (p.Arg1099=) single nucleotide variant not provided [RCV000920888] Chr9:20929576 [GRCh38]
Chr9:20929575 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.5079C>T (p.Leu1693=) single nucleotide variant not provided [RCV000924478] Chr9:20990197 [GRCh38]
Chr9:20990196 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2223A>G (p.Leu741=) single nucleotide variant not provided [RCV000983124] Chr9:20874713 [GRCh38]
Chr9:20874712 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4495C>T (p.Pro1499Ser) single nucleotide variant FOCAD-related disorder [RCV003910730]|not provided [RCV000900058] Chr9:20981543 [GRCh38]
Chr9:20981542 [GRCh37]
Chr9:9p21.3		 benign|likely benign
GRCh37/hg19 9p21.3(chr9:20715401-22136489) copy number loss not provided [RCV000767562] Chr9:20715401..22136489 [GRCh37]
Chr9:9p21.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_001375567.1(FOCAD):c.2862G>A (p.Pro954=) single nucleotide variant not provided [RCV000961921] Chr9:20923669 [GRCh38]
Chr9:20923668 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1663-4G>T single nucleotide variant FOCAD-related disorder [RCV003940452]|not provided [RCV000882449] Chr9:20820937 [GRCh38]
Chr9:20820936 [GRCh37]
Chr9:9p21.3		 benign|likely benign
NM_001375567.1(FOCAD):c.4994C>T (p.Ala1665Val) single nucleotide variant FOCAD-related disorder [RCV003923009]|not provided [RCV000903144] Chr9:20988419 [GRCh38]
Chr9:20988418 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.5005-7A>G single nucleotide variant not provided [RCV000938765] Chr9:20990116 [GRCh38]
Chr9:20990115 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1096G>A (p.Asp366Asn) single nucleotide variant FOCAD-related disorder [RCV003943185]|Inborn genetic diseases [RCV004029938]|not provided [RCV000969234] Chr9:20781828 [GRCh38]
Chr9:20781827 [GRCh37]
Chr9:9p21.3		 likely benign|uncertain significance
NM_001375567.1(FOCAD):c.1416C>T (p.Leu472=) single nucleotide variant FOCAD-related disorder [RCV003960808]|not provided [RCV000969235] Chr9:20789569 [GRCh38]
Chr9:20789568 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3360G>A (p.Ser1120=) single nucleotide variant FOCAD-related disorder [RCV003906693]|not provided [RCV003312730] Chr9:20933056 [GRCh38]
Chr9:20933055 [GRCh37]
Chr9:9p21.3		 likely benign|conflicting interpretations of pathogenicity
NM_001375567.1(FOCAD):c.5047G>A (p.Ala1683Thr) single nucleotide variant FOCAD-related disorder [RCV003905782]|not provided [RCV000958364] Chr9:20990165 [GRCh38]
Chr9:20990164 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.5247G>T (p.Gln1749His) single nucleotide variant FOCAD-related disorder [RCV003968160]|not provided [RCV000893701] Chr9:20990365 [GRCh38]
Chr9:20990364 [GRCh37]
Chr9:9p21.3		 benign
GRCh37/hg19 9p21.3(chr9:20845393-20907846)x1 copy number loss not provided [RCV000849726] Chr9:20845393..20907846 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p21.3(chr9:20832145-20901604)x1 copy number loss not provided [RCV001006223] Chr9:20832145..20901604 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p21.3(chr9:20684175-21308693)x1 copy number loss not provided [RCV000847176] Chr9:20684175..21308693 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p21.3(chr9:20829681-22069144)x3 copy number gain not provided [RCV001006222] Chr9:20829681..22069144 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2653C>T (p.Arg885Cys) single nucleotide variant Inborn genetic diseases [RCV003239891] Chr9:20907177 [GRCh38]
Chr9:20907176 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.49C>A (p.Gln17Lys) single nucleotide variant FOCAD-related disorder [RCV003393072]|Inborn genetic diseases [RCV004364445] Chr9:20715402 [GRCh38]
Chr9:20715401 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2853-41A>G single nucleotide variant not provided [RCV001671254] Chr9:20923619 [GRCh38]
Chr9:20923619..20923620 [GRCh38]
Chr9:20923618 [GRCh37]
Chr9:20923618..20923619 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.4639-28T>G single nucleotide variant not provided [RCV001598368] Chr9:20982329 [GRCh38]
Chr9:20982328 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1793+217C>T single nucleotide variant not provided [RCV001720344] Chr9:20821288 [GRCh38]
Chr9:20821287 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2807+192AC[20] microsatellite not provided [RCV001720349] Chr9:20913146..20913149 [GRCh38]
Chr9:20913145..20913148 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.907-166C>T single nucleotide variant not provided [RCV001720350] Chr9:20778515 [GRCh38]
Chr9:20778514 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2853-80C>T single nucleotide variant not provided [RCV001679410] Chr9:20923580 [GRCh38]
Chr9:20923579 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1197+51C>A single nucleotide variant not provided [RCV001682518] Chr9:20781980 [GRCh38]
Chr9:20781979 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3676-144_3676-143dup duplication not provided [RCV001693012] Chr9:20948126..20948127 [GRCh38]
Chr9:20948125..20948126 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.4117A>G (p.Thr1373Ala) single nucleotide variant FOCAD-related disorder [RCV003975887]|not provided [RCV001667500] Chr9:20953050 [GRCh38]
Chr9:20953049 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2600A>G (p.Gln867Arg) single nucleotide variant FOCAD-related disorder [RCV003910963]|not provided [RCV001693286] Chr9:20885205 [GRCh38]
Chr9:20885204 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1920+200C>A single nucleotide variant not provided [RCV001643904] Chr9:20823315 [GRCh38]
Chr9:20823314 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.133-61GT[7] microsatellite not provided [RCV001594747] Chr9:20720319..20720320 [GRCh38]
Chr9:20720318..20720319 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2807+192AC[19] microsatellite not provided [RCV001621757] Chr9:20913146..20913151 [GRCh38]
Chr9:20913145..20913150 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.5063C>G (p.Thr1688Ser) single nucleotide variant Inborn genetic diseases [RCV003275579] Chr9:20990181 [GRCh38]
Chr9:20990180 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1817T>C (p.Met606Thr) single nucleotide variant Inborn genetic diseases [RCV003241839] Chr9:20823012 [GRCh38]
Chr9:20823011 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4135C>T (p.Pro1379Ser) single nucleotide variant FOCAD-related disorder [RCV003977996]|not provided [RCV000914472] Chr9:20976422 [GRCh38]
Chr9:20976421 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.700G>A (p.Val234Ile) single nucleotide variant FOCAD-related disorder [RCV003920701]|not provided [RCV000887961] Chr9:20770032 [GRCh38]
Chr9:20770031 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2107-9C>T single nucleotide variant FOCAD-related disorder [RCV003916146]|not provided [RCV000964136] Chr9:20866920 [GRCh38]
Chr9:20866919 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3411G>A (p.Thr1137=) single nucleotide variant FOCAD-related disorder [RCV003915849]|not provided [RCV000954695] Chr9:20944630 [GRCh38]
Chr9:20944629 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2104A>G (p.Lys702Glu) single nucleotide variant FOCAD-related disorder [RCV003955944]|not provided [RCV000888333] Chr9:20865974 [GRCh38]
Chr9:20865973 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2877T>C (p.Asn959=) single nucleotide variant FOCAD-related disorder [RCV003948297]|not provided [RCV000880110] Chr9:20923684 [GRCh38]
Chr9:20923683 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1272A>G (p.Val424=) single nucleotide variant FOCAD-related disorder [RCV003902835]|not provided [RCV000908184] Chr9:20789425 [GRCh38]
Chr9:20789424 [GRCh37]
Chr9:9p21.3		 benign|likely benign
NM_001375567.1(FOCAD):c.1819T>C (p.Leu607=) single nucleotide variant FOCAD-related disorder [RCV003915920]|not provided [RCV000956711] Chr9:20823014 [GRCh38]
Chr9:20823013 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3253G>A (p.Val1085Met) single nucleotide variant FOCAD-related disorder [RCV003933189]|not provided [RCV000935121] Chr9:20929532 [GRCh38]
Chr9:20929531 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.3660G>A (p.Val1220=) single nucleotide variant not provided [RCV000911542] Chr9:20946805 [GRCh38]
Chr9:20946804 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1567A>G (p.Ile523Val) single nucleotide variant FOCAD-related disorder [RCV003940673]|not provided [RCV000890800] Chr9:20820330 [GRCh38]
Chr9:20820329 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.4637G>A (p.Arg1546Gln) single nucleotide variant FOCAD-related disorder [RCV003950740]|not provided [RCV000911568] Chr9:20981685 [GRCh38]
Chr9:20981684 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1793+148G>T single nucleotide variant not provided [RCV001688903] Chr9:20821219 [GRCh38]
Chr9:20821218 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2962-161del deletion not provided [RCV001641135] Chr9:20926140 [GRCh38]
Chr9:20926139 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.4133-121C>T single nucleotide variant not provided [RCV001662845] Chr9:20976299 [GRCh38]
Chr9:20976298 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1921-62A>C single nucleotide variant not provided [RCV001635560] Chr9:20862516 [GRCh38]
Chr9:20862515 [GRCh37]
Chr9:9p21.3		 benign
GRCh37/hg19 9p22.3-21.3(chr9:15328600-20821644)x3 copy number gain not provided [RCV002472852] Chr9:15328600..20821644 [GRCh37]
Chr9:9p22.3-21.3		 uncertain significance
GRCh37/hg19 9p21.3(chr9:20907264-21044118)x1 copy number loss not provided [RCV002472862] Chr9:20907264..21044118 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1921-222G>A single nucleotide variant not provided [RCV001720345] Chr9:20862356 [GRCh38]
Chr9:20862355 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.287+66A>C single nucleotide variant not provided [RCV001656413] Chr9:20720600 [GRCh38]
Chr9:20720599 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1198-191A>T single nucleotide variant not provided [RCV001689398] Chr9:20789160 [GRCh38]
Chr9:20789159 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1456-295A>G single nucleotide variant not provided [RCV001596677] Chr9:20819501 [GRCh38]
Chr9:20819500 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.994+237A>G single nucleotide variant not provided [RCV001636476] Chr9:20779005 [GRCh38]
Chr9:20779004 [GRCh37]
Chr9:9p21.3		 benign
GRCh37/hg19 9p21.3(chr9:20659492-22347440)x3 copy number gain not provided [RCV002473498] Chr9:20659492..22347440 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.907-154T>G single nucleotide variant not provided [RCV001710471] Chr9:20778527 [GRCh38]
Chr9:20778526 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1663-58A>G single nucleotide variant not provided [RCV001595524] Chr9:20820883 [GRCh38]
Chr9:20820882 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3317+184G>A single nucleotide variant not provided [RCV001638747] Chr9:20929780 [GRCh38]
Chr9:20929779 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.4262-26A>G single nucleotide variant not provided [RCV001619292] Chr9:20978313 [GRCh38]
Chr9:20978312 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1197+168del deletion not provided [RCV001597370] Chr9:20782097 [GRCh38]
Chr9:20782096 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2807+192AC[21] microsatellite not provided [RCV001639254] Chr9:20913146..20913147 [GRCh38]
Chr9:20913145..20913146 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3675+133T>C single nucleotide variant not provided [RCV001676159] Chr9:20946953 [GRCh38]
Chr9:20946952 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.699+25A>G single nucleotide variant not provided [RCV001710734] Chr9:20765098 [GRCh38]
Chr9:20765097 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2503+62T>C single nucleotide variant not provided [RCV001676627] Chr9:20882118 [GRCh38]
Chr9:20882117 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.5333-227G>A single nucleotide variant not provided [RCV001677998] Chr9:20995329 [GRCh38]
Chr9:20995328 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2807+192AC[23] microsatellite not provided [RCV001686719] Chr9:20913145..20913146 [GRCh38]
Chr9:20913144..20913145 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3318-114dup duplication not provided [RCV001677082] Chr9:20932890..20932891 [GRCh38]
Chr9:20932889..20932890 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.4728+70G>C single nucleotide variant not provided [RCV001677533] Chr9:20982516 [GRCh38]
Chr9:20982515 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2718+96dup duplication not provided [RCV001720412] Chr9:20907334..20907335 [GRCh38]
Chr9:20907333..20907334 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2807+192AC[24] microsatellite not provided [RCV001638526] Chr9:20913145..20913146 [GRCh38]
Chr9:20913144..20913145 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.700-44G>T single nucleotide variant not provided [RCV001687723] Chr9:20769988 [GRCh38]
Chr9:20769987 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1197+172T>C single nucleotide variant not provided [RCV001714829] Chr9:20782101 [GRCh38]
Chr9:20782100 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3717A>G (p.Gly1239=) single nucleotide variant FOCAD-related disorder [RCV003976045]|not provided [RCV001708652] Chr9:20948312 [GRCh38]
Chr9:20948311 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.5333-181_5333-180insCA insertion not provided [RCV001614089] Chr9:20995374..20995375 [GRCh38]
Chr9:20995373..20995374 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.995-227_995-226del microsatellite not provided [RCV001649958] Chr9:20781498..20781499 [GRCh38]
Chr9:20781497..20781498 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1921-71G>A single nucleotide variant not provided [RCV001692556] Chr9:20862507 [GRCh38]
Chr9:20862506 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.392+94A>T single nucleotide variant not provided [RCV001648120] Chr9:20740434 [GRCh38]
Chr9:20740433 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.5005-23C>T single nucleotide variant not provided [RCV001667459] Chr9:20990100 [GRCh38]
Chr9:20990099 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.-32-9T>C single nucleotide variant not provided [RCV001610183] Chr9:20715313 [GRCh38]
Chr9:20715312 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3318-145G>T single nucleotide variant not provided [RCV001696069] Chr9:20932869 [GRCh38]
Chr9:20932868 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.4132+169A>G single nucleotide variant not provided [RCV001643814] Chr9:20953234 [GRCh38]
Chr9:20953233 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.4262-32A>G single nucleotide variant not provided [RCV001693028] Chr9:20978307 [GRCh38]
Chr9:20978306 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.4728+58T>G single nucleotide variant not provided [RCV001611780] Chr9:20982504 [GRCh38]
Chr9:20982503 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.494+116T>A single nucleotide variant not provided [RCV001707027] Chr9:20758307 [GRCh38]
Chr9:20758306 [GRCh37]
Chr9:9p21.3		 benign
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NM_001375567.1(FOCAD):c.994+239G>A single nucleotide variant not provided [RCV001662880] Chr9:20779007 [GRCh38]
Chr9:20779006 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.392+26dup duplication not provided [RCV001536260] Chr9:20740356..20740357 [GRCh38]
Chr9:20740355..20740356 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2808-64A>C single nucleotide variant not provided [RCV001541655] Chr9:20916829 [GRCh38]
Chr9:20916828 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3799-55A>G single nucleotide variant not provided [RCV001673347] Chr9:20948796 [GRCh38]
Chr9:20948795 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.5332+134T>G single nucleotide variant not provided [RCV001650824] Chr9:20993462 [GRCh38]
Chr9:20993461 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1198-119T>A single nucleotide variant not provided [RCV001684110] Chr9:20789232 [GRCh38]
Chr9:20789231 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3408-68G>A single nucleotide variant not provided [RCV001688543] Chr9:20944559 [GRCh38]
Chr9:20944558 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2853-141C>G single nucleotide variant not provided [RCV001649756] Chr9:20923519 [GRCh38]
Chr9:20923518 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3876+232C>T single nucleotide variant not provided [RCV001617338] Chr9:20949160 [GRCh38]
Chr9:20949159 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2852+140C>T single nucleotide variant not provided [RCV001710442] Chr9:20917077 [GRCh38]
Chr9:20917076 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.699+133A>G single nucleotide variant not provided [RCV001685177] Chr9:20765206 [GRCh38]
Chr9:20765205 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2962-68C>T single nucleotide variant not provided [RCV001683947] Chr9:20926233 [GRCh38]
Chr9:20926232 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.907-191C>T single nucleotide variant not provided [RCV001649775] Chr9:20778490 [GRCh38]
Chr9:20778489 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.-32-44G>T single nucleotide variant not provided [RCV001681183] Chr9:20715278 [GRCh38]
Chr9:20715277 [GRCh37]
Chr9:9p21.3		 benign
GRCh37/hg19 9p21.3(chr9:20887736-20938643)x1 copy number loss not provided [RCV001834144] Chr9:20887736..20938643 [GRCh37]
Chr9:9p21.3		 uncertain significance
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_001375567.1(FOCAD):c.3410C>T (p.Thr1137Met) single nucleotide variant Inborn genetic diseases [RCV003252560] Chr9:20944629 [GRCh38]
Chr9:20944628 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3545C>A (p.Thr1182Lys) single nucleotide variant Inborn genetic diseases [RCV003252382] Chr9:20944764 [GRCh38]
Chr9:20944763 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4759C>A (p.Leu1587Met) single nucleotide variant Inborn genetic diseases [RCV003198001] Chr9:20986318 [GRCh38]
Chr9:20986317 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p21.3(chr9:20610950-20740733) copy number loss not specified [RCV002053844] Chr9:20610950..20740733 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
NM_001375567.1(FOCAD):c.5137C>A (p.Pro1713Thr) single nucleotide variant Inborn genetic diseases [RCV003279227] Chr9:20990255 [GRCh38]
Chr9:20990254 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_001375567.1(FOCAD):c.5004G>C (p.Lys1668Asn) single nucleotide variant Liver disease, severe congenital [RCV002275456] Chr9:20988429 [GRCh38]
Chr9:20988428 [GRCh37]
Chr9:9p21.3		 pathogenic
NM_001375567.1(FOCAD):c.2676dup (p.Trp893fs) duplication Liver disease, severe congenital [RCV002275457] Chr9:20907198..20907199 [GRCh38]
Chr9:20907197..20907198 [GRCh37]
Chr9:9p21.3		 pathogenic
NM_001375567.1(FOCAD):c.583C>T (p.Arg195Ter) single nucleotide variant Liver disease, severe congenital [RCV002275458] Chr9:20764957 [GRCh38]
Chr9:20764956 [GRCh37]
Chr9:9p21.3		 pathogenic
NM_001375567.1(FOCAD):c.2587C>T (p.Arg863Ter) single nucleotide variant Liver disease, severe congenital [RCV002275888] Chr9:20885192 [GRCh38]
Chr9:20885191 [GRCh37]
Chr9:9p21.3		 pathogenic
NM_001375567.1(FOCAD):c.4343del (p.Leu1448fs) deletion Liver disease, severe congenital [RCV002275889] Chr9:20978419 [GRCh38]
Chr9:20978418 [GRCh37]
Chr9:9p21.3		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_001375567.1(FOCAD):c.1124C>T (p.Pro375Leu) single nucleotide variant Inborn genetic diseases [RCV003304347] Chr9:20781856 [GRCh38]
Chr9:20781855 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3359C>T (p.Ser1120Leu) single nucleotide variant Inborn genetic diseases [RCV003261534] Chr9:20933055 [GRCh38]
Chr9:20933054 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3836G>A (p.Gly1279Asp) single nucleotide variant Inborn genetic diseases [RCV002776764] Chr9:20948888 [GRCh38]
Chr9:20948887 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2086T>A (p.Trp696Arg) single nucleotide variant Inborn genetic diseases [RCV002841348] Chr9:20865956 [GRCh38]
Chr9:20865955 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2575G>A (p.Ala859Thr) single nucleotide variant Inborn genetic diseases [RCV002817808] Chr9:20885180 [GRCh38]
Chr9:20885179 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1984C>G (p.Leu662Val) single nucleotide variant Inborn genetic diseases [RCV002752582] Chr9:20862641 [GRCh38]
Chr9:20862640 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3758G>A (p.Ser1253Asn) single nucleotide variant Inborn genetic diseases [RCV002974698]|not provided [RCV003720707] Chr9:20948353 [GRCh38]
Chr9:20948352 [GRCh37]
Chr9:9p21.3		 likely benign|uncertain significance
NM_001375567.1(FOCAD):c.4294A>G (p.Met1432Val) single nucleotide variant Inborn genetic diseases [RCV002860746] Chr9:20978371 [GRCh38]
Chr9:20978370 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.317T>C (p.Met106Thr) single nucleotide variant Inborn genetic diseases [RCV002779541] Chr9:20740265 [GRCh38]
Chr9:20740264 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.773C>G (p.Pro258Arg) single nucleotide variant Inborn genetic diseases [RCV002773350] Chr9:20770105 [GRCh38]
Chr9:20770104 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4972T>A (p.Ser1658Thr) single nucleotide variant Inborn genetic diseases [RCV002969776] Chr9:20988397 [GRCh38]
Chr9:20988396 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3110C>G (p.Ala1037Gly) single nucleotide variant Inborn genetic diseases [RCV002860018] Chr9:20929389 [GRCh38]
Chr9:20929388 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.932T>C (p.Ile311Thr) single nucleotide variant Inborn genetic diseases [RCV002753448] Chr9:20778706 [GRCh38]
Chr9:20778705 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4781G>A (p.Arg1594Gln) single nucleotide variant Inborn genetic diseases [RCV002879748] Chr9:20986340 [GRCh38]
Chr9:20986339 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1499C>T (p.Pro500Leu) single nucleotide variant Inborn genetic diseases [RCV002733907] Chr9:20819839 [GRCh38]
Chr9:20819838 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.487C>A (p.Pro163Thr) single nucleotide variant FOCAD-related disorder [RCV003420510]|Inborn genetic diseases [RCV002685308] Chr9:20758184 [GRCh38]
Chr9:20758183 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4804G>A (p.Asp1602Asn) single nucleotide variant Inborn genetic diseases [RCV002950798] Chr9:20986363 [GRCh38]
Chr9:20986362 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.194C>T (p.Ala65Val) single nucleotide variant Inborn genetic diseases [RCV002924413] Chr9:20720441 [GRCh38]
Chr9:20720440 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1919A>T (p.Glu640Val) single nucleotide variant Inborn genetic diseases [RCV002762516] Chr9:20823114 [GRCh38]
Chr9:20823113 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3118C>T (p.Arg1040Cys) single nucleotide variant Inborn genetic diseases [RCV002869474] Chr9:20929397 [GRCh38]
Chr9:20929396 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4102A>G (p.Ile1368Val) single nucleotide variant Inborn genetic diseases [RCV002884495] Chr9:20953035 [GRCh38]
Chr9:20953034 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3334G>C (p.Glu1112Gln) single nucleotide variant Inborn genetic diseases [RCV002693180] Chr9:20933030 [GRCh38]
Chr9:20933029 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2818A>T (p.Met940Leu) single nucleotide variant Inborn genetic diseases [RCV002660583]|not provided [RCV003698972] Chr9:20916903 [GRCh38]
Chr9:20916902 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2948A>G (p.Asp983Gly) single nucleotide variant Inborn genetic diseases [RCV002738248] Chr9:20923755 [GRCh38]
Chr9:20923754 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.766C>T (p.Arg256Cys) single nucleotide variant Inborn genetic diseases [RCV002951963] Chr9:20770098 [GRCh38]
Chr9:20770097 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2813G>A (p.Arg938Lys) single nucleotide variant Inborn genetic diseases [RCV002952245] Chr9:20916898 [GRCh38]
Chr9:20916897 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.5356C>G (p.Leu1786Val) single nucleotide variant Inborn genetic diseases [RCV002782144] Chr9:20995579 [GRCh38]
Chr9:20995578 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2879C>T (p.Ala960Val) single nucleotide variant Inborn genetic diseases [RCV002738614] Chr9:20923686 [GRCh38]
Chr9:20923685 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4456G>C (p.Val1486Leu) single nucleotide variant Inborn genetic diseases [RCV002783673] Chr9:20981504 [GRCh38]
Chr9:20981503 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4537C>A (p.Leu1513Met) single nucleotide variant Inborn genetic diseases [RCV002911016] Chr9:20981585 [GRCh38]
Chr9:20981584 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4144G>T (p.Val1382Leu) single nucleotide variant FOCAD-related disorder [RCV003420469]|Inborn genetic diseases [RCV002911499]|not provided [RCV003542462] Chr9:20976431 [GRCh38]
Chr9:20976430 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3163A>G (p.Ile1055Val) single nucleotide variant FOCAD-related disorder [RCV003420490]|Inborn genetic diseases [RCV002978132]|not provided [RCV003565597] Chr9:20929442 [GRCh38]
Chr9:20929441 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1232T>C (p.Met411Thr) single nucleotide variant Inborn genetic diseases [RCV002768647] Chr9:20789385 [GRCh38]
Chr9:20789384 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.545A>G (p.Tyr182Cys) single nucleotide variant Inborn genetic diseases [RCV002955160] Chr9:20764919 [GRCh38]
Chr9:20764918 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.5162T>A (p.Met1721Lys) single nucleotide variant Inborn genetic diseases [RCV002987499]|not provided [RCV003730342] Chr9:20990280 [GRCh38]
Chr9:20990279 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.730A>G (p.Met244Val) single nucleotide variant Inborn genetic diseases [RCV002929258] Chr9:20770062 [GRCh38]
Chr9:20770061 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3130G>A (p.Ala1044Thr) single nucleotide variant Inborn genetic diseases [RCV003003587] Chr9:20929409 [GRCh38]
Chr9:20929408 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2507G>T (p.Gly836Val) single nucleotide variant Inborn genetic diseases [RCV002743502] Chr9:20885112 [GRCh38]
Chr9:20885111 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2225A>T (p.Asp742Val) single nucleotide variant Inborn genetic diseases [RCV003003928] Chr9:20874715 [GRCh38]
Chr9:20874714 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3517G>A (p.Val1173Ile) single nucleotide variant Inborn genetic diseases [RCV002764087] Chr9:20944736 [GRCh38]
Chr9:20944735 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3202A>G (p.Met1068Val) single nucleotide variant FOCAD-related disorder [RCV003420436]|Inborn genetic diseases [RCV002787008]|not provided [RCV003561094] Chr9:20929481 [GRCh38]
Chr9:20929480 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1171G>A (p.Glu391Lys) single nucleotide variant Inborn genetic diseases [RCV002891400]|not provided [RCV003777879] Chr9:20781903 [GRCh38]
Chr9:20781902 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4523G>C (p.Ser1508Thr) single nucleotide variant Inborn genetic diseases [RCV002931789] Chr9:20981571 [GRCh38]
Chr9:20981570 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4787C>T (p.Pro1596Leu) single nucleotide variant Inborn genetic diseases [RCV002744005] Chr9:20986346 [GRCh38]
Chr9:20986345 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4127A>G (p.Lys1376Arg) single nucleotide variant Inborn genetic diseases [RCV002917144] Chr9:20953060 [GRCh38]
Chr9:20953059 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2039A>C (p.Asn680Thr) single nucleotide variant Inborn genetic diseases [RCV002827631] Chr9:20862696 [GRCh38]
Chr9:20862695 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4844T>C (p.Val1615Ala) single nucleotide variant Inborn genetic diseases [RCV002916688] Chr9:20986403 [GRCh38]
Chr9:20986402 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3184G>T (p.Val1062Phe) single nucleotide variant Inborn genetic diseases [RCV003006775] Chr9:20929463 [GRCh38]
Chr9:20929462 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2873G>A (p.Gly958Asp) single nucleotide variant Inborn genetic diseases [RCV002767338] Chr9:20923680 [GRCh38]
Chr9:20923679 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3052G>A (p.Gly1018Arg) single nucleotide variant Inborn genetic diseases [RCV002939797] Chr9:20926391 [GRCh38]
Chr9:20926390 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.5249C>T (p.Thr1750Ile) single nucleotide variant Inborn genetic diseases [RCV002807507] Chr9:20990367 [GRCh38]
Chr9:20990366 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1369G>T (p.Ala457Ser) single nucleotide variant Inborn genetic diseases [RCV002672603] Chr9:20789522 [GRCh38]
Chr9:20789521 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3862G>C (p.Gly1288Arg) single nucleotide variant Inborn genetic diseases [RCV002769343] Chr9:20948914 [GRCh38]
Chr9:20948913 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2426C>T (p.Thr809Ile) single nucleotide variant Inborn genetic diseases [RCV002878476] Chr9:20881979 [GRCh38]
Chr9:20881978 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.374A>G (p.Gln125Arg) single nucleotide variant Inborn genetic diseases [RCV002652842]|not provided [RCV003720650] Chr9:20740322 [GRCh38]
Chr9:20740321 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.321C>G (p.His107Gln) single nucleotide variant Inborn genetic diseases [RCV003201302] Chr9:20740269 [GRCh38]
Chr9:20740268 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.59C>G (p.Ala20Gly) single nucleotide variant Inborn genetic diseases [RCV003219391] Chr9:20717795 [GRCh38]
Chr9:20717794 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.176A>G (p.Asn59Ser) single nucleotide variant Inborn genetic diseases [RCV003205317] Chr9:20720423 [GRCh38]
Chr9:20720422 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1388A>G (p.Asp463Gly) single nucleotide variant Inborn genetic diseases [RCV003199532] Chr9:20789541 [GRCh38]
Chr9:20789540 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1424C>T (p.Thr475Ile) single nucleotide variant Inborn genetic diseases [RCV003205263] Chr9:20789577 [GRCh38]
Chr9:20789576 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2320T>G (p.Leu774Val) single nucleotide variant Inborn genetic diseases [RCV003191436] Chr9:20881873 [GRCh38]
Chr9:20881872 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1613G>A (p.Arg538Gln) single nucleotide variant Inborn genetic diseases [RCV003178985] Chr9:20820376 [GRCh38]
Chr9:20820375 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.995-8A>G single nucleotide variant FOCAD-related disorder [RCV003906701]|not provided [RCV003327282] Chr9:20781719 [GRCh38]
Chr9:20781718 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2855A>G (p.Glu952Gly) single nucleotide variant FOCAD-related disorder [RCV003397453] Chr9:20923662 [GRCh38]
Chr9:20923661 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV003425635] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1828A>G (p.Ile610Val) single nucleotide variant Inborn genetic diseases [RCV003339414] Chr9:20823023 [GRCh38]
Chr9:20823022 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.491A>G (p.Glu164Gly) single nucleotide variant Inborn genetic diseases [RCV003341054] Chr9:20758188 [GRCh38]
Chr9:20758187 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.523G>T (p.Ala175Ser) single nucleotide variant Inborn genetic diseases [RCV003372538] Chr9:20764897 [GRCh38]
Chr9:20764896 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.526C>A (p.Pro176Thr) single nucleotide variant Inborn genetic diseases [RCV003372539] Chr9:20764900 [GRCh38]
Chr9:20764899 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2270C>G (p.Ser757Cys) single nucleotide variant Inborn genetic diseases [RCV003373214] Chr9:20874760 [GRCh38]
Chr9:20874759 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3158T>C (p.Val1053Ala) single nucleotide variant Inborn genetic diseases [RCV003363404] Chr9:20929437 [GRCh38]
Chr9:20929436 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4331C>G (p.Ala1444Gly) single nucleotide variant Inborn genetic diseases [RCV003352719] Chr9:20978408 [GRCh38]
Chr9:20978407 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4904C>T (p.Thr1635Met) single nucleotide variant Inborn genetic diseases [RCV003363586] Chr9:20986463 [GRCh38]
Chr9:20986462 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2957T>A (p.Leu986Gln) single nucleotide variant Inborn genetic diseases [RCV003370846] Chr9:20923764 [GRCh38]
Chr9:20923763 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2597A>G (p.Lys866Arg) single nucleotide variant Inborn genetic diseases [RCV003377454] Chr9:20885202 [GRCh38]
Chr9:20885201 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3722C>A (p.Ser1241Tyr) single nucleotide variant Inborn genetic diseases [RCV003372022] Chr9:20948317 [GRCh38]
Chr9:20948316 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1077A>G (p.Leu359=) single nucleotide variant not provided [RCV003873174] Chr9:20781809 [GRCh38]
Chr9:20781808 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2626-7C>T single nucleotide variant not provided [RCV003543741] Chr9:20907143 [GRCh38]
Chr9:20907142 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.3584G>A (p.Cys1195Tyr) single nucleotide variant FOCAD-related disorder [RCV003954298]|Inborn genetic diseases [RCV004621833]|not provided [RCV003569614] Chr9:20946729 [GRCh38]
Chr9:20946728 [GRCh37]
Chr9:9p21.3		 likely benign|uncertain significance
NM_001375567.1(FOCAD):c.392+25_392+26del deletion not provided [RCV003543773] Chr9:20740357..20740358 [GRCh38]
Chr9:20740356..20740357 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.5376A>T (p.Lys1792Asn) single nucleotide variant not provided [RCV003543205] Chr9:20995599 [GRCh38]
Chr9:20995598 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1350G>A (p.Ala450=) single nucleotide variant FOCAD-related disorder [RCV003981011]|not provided [RCV003571593] Chr9:20789503 [GRCh38]
Chr9:20789502 [GRCh37]
Chr9:9p21.3		 likely benign
GRCh37/hg19 9p21.3(chr9:20663642-21312153)x4 copy number gain not provided [RCV003485354] Chr9:20663642..21312153 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.259G>A (p.Gly87Arg) single nucleotide variant not provided [RCV003543036] Chr9:20720506 [GRCh38]
Chr9:20720505 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.393-11G>T single nucleotide variant not provided [RCV003543037] Chr9:20758079 [GRCh38]
Chr9:20758078 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4369A>C (p.Ser1457Arg) single nucleotide variant FOCAD-related disorder [RCV003402387] Chr9:20978446 [GRCh38]
Chr9:20978445 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4435G>A (p.Asp1479Asn) single nucleotide variant not provided [RCV003457166] Chr9:20981483 [GRCh38]
Chr9:20981482 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2862G>C (p.Pro954=) single nucleotide variant not provided [RCV003435733] Chr9:20923669 [GRCh38]
Chr9:20923668 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.325C>A (p.Leu109Ile) single nucleotide variant FOCAD-related disorder [RCV003399824]|not provided [RCV003699081] Chr9:20740273 [GRCh38]
Chr9:20740272 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV003425634] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1583G>T (p.Arg528Leu) single nucleotide variant FOCAD-related disorder [RCV003394469] Chr9:20820346 [GRCh38]
Chr9:20820345 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV003425632] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.5333C>T (p.Ala1778Val) single nucleotide variant FOCAD-related disorder [RCV003929186]|not provided [RCV003425637] Chr9:20995556 [GRCh38]
Chr9:20995555 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4663A>C (p.Ser1555Arg) single nucleotide variant FOCAD-related disorder [RCV003406207] Chr9:20982381 [GRCh38]
Chr9:20982380 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV003425633] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV003425636] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1400A>G (p.Asn467Ser) single nucleotide variant FOCAD-related disorder [RCV003412284] Chr9:20789553 [GRCh38]
Chr9:20789552 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV003435736] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.5249C>A (p.Thr1750Asn) single nucleotide variant not provided [RCV003435740] Chr9:20990367 [GRCh38]
Chr9:20990366 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3528C>T (p.Ser1176=) single nucleotide variant not provided [RCV003435734] Chr9:20944747 [GRCh38]
Chr9:20944746 [GRCh37]
Chr9:9p21.3		 likely benign|conflicting interpretations of pathogenicity
NM_001375567.1(FOCAD):c.4590C>T (p.Leu1530=) single nucleotide variant not provided [RCV003435735] Chr9:20981638 [GRCh38]
Chr9:20981637 [GRCh37]
Chr9:9p21.3		 likely benign|conflicting interpretations of pathogenicity
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV003435737] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV003435738] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4905G>A (p.Thr1635=) single nucleotide variant FOCAD-related disorder [RCV003946616]|not provided [RCV003435739] Chr9:20986464 [GRCh38]
Chr9:20986463 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4396C>T (p.Leu1466Phe) single nucleotide variant FOCAD-related disorder [RCV003412462] Chr9:20981444 [GRCh38]
Chr9:20981443 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4259T>A (p.Phe1420Tyr) single nucleotide variant FOCAD-related disorder [RCV003427899] Chr9:20976546 [GRCh38]
Chr9:20976545 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3512C>T (p.Ala1171Val) single nucleotide variant FOCAD-related disorder [RCV003417042] Chr9:20944731 [GRCh38]
Chr9:20944730 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2889T>C (p.Ala963=) single nucleotide variant not provided [RCV003457553] Chr9:20923696 [GRCh38]
Chr9:20923695 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.3484G>A (p.Val1162Ile) single nucleotide variant FOCAD-related disorder [RCV003418800]|Inborn genetic diseases [RCV004362874] Chr9:20944703 [GRCh38]
Chr9:20944702 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV003425631] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3463C>G (p.Gln1155Glu) single nucleotide variant FOCAD-related disorder [RCV003417077] Chr9:20944682 [GRCh38]
Chr9:20944681 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4898C>T (p.Ala1633Val) single nucleotide variant FOCAD-related disorder [RCV003414132] Chr9:20986457 [GRCh38]
Chr9:20986456 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3469C>G (p.Gln1157Glu) single nucleotide variant FOCAD-related disorder [RCV003393182] Chr9:20944688 [GRCh38]
Chr9:20944687 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1568T>C (p.Ile523Thr) single nucleotide variant not provided [RCV003879076] Chr9:20820331 [GRCh38]
Chr9:20820330 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.5333-17A>G single nucleotide variant not provided [RCV003575296] Chr9:20995539 [GRCh38]
Chr9:20995538 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2405C>T (p.Ala802Val) single nucleotide variant FOCAD-related disorder [RCV003981050]|not provided [RCV003695772] Chr9:20881958 [GRCh38]
Chr9:20881957 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.220G>A (p.Val74Ile) single nucleotide variant not provided [RCV003579538] Chr9:20720467 [GRCh38]
Chr9:20720466 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3041A>G (p.Tyr1014Cys) single nucleotide variant not provided [RCV003578519] Chr9:20926380 [GRCh38]
Chr9:20926379 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.644C>T (p.Ser215Leu) single nucleotide variant not provided [RCV003579436] Chr9:20765018 [GRCh38]
Chr9:20765017 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2962-19G>A single nucleotide variant not provided [RCV003696276] Chr9:20926282 [GRCh38]
Chr9:20926281 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.401C>T (p.Pro134Leu) single nucleotide variant not provided [RCV003548065] Chr9:20758098 [GRCh38]
Chr9:20758097 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3433C>G (p.Leu1145Val) single nucleotide variant FOCAD-related disorder [RCV003909061]|not provided [RCV003660431] Chr9:20944652 [GRCh38]
Chr9:20944651 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3478G>A (p.Val1160Ile) single nucleotide variant FOCAD-related disorder [RCV003909062]|not provided [RCV003660432] Chr9:20944697 [GRCh38]
Chr9:20944696 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2625+2T>C single nucleotide variant not provided [RCV003573628] Chr9:20885232 [GRCh38]
Chr9:20885231 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.5123C>G (p.Pro1708Arg) single nucleotide variant not provided [RCV003739002] Chr9:20990241 [GRCh38]
Chr9:20990240 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.543G>C (p.Leu181=) single nucleotide variant FOCAD-related disorder [RCV003909060]|not provided [RCV003660429] Chr9:20764917 [GRCh38]
Chr9:20764916 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2206C>T (p.Pro736Ser) single nucleotide variant not provided [RCV003690985] Chr9:20874696 [GRCh38]
Chr9:20874695 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1806T>C (p.His602=) single nucleotide variant FOCAD-related disorder [RCV003954299]|not provided [RCV003572520] Chr9:20823001 [GRCh38]
Chr9:20823000 [GRCh37]
Chr9:9p21.3		 benign|likely benign
NM_001375567.1(FOCAD):c.1444del (p.Asp482fs) deletion not provided [RCV003577535] Chr9:20789597 [GRCh38]
Chr9:20789596 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.278dup (p.Ser94fs) duplication not provided [RCV003545200] Chr9:20720523..20720524 [GRCh38]
Chr9:20720522..20720523 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.20A>T (p.Lys7Ile) single nucleotide variant not provided [RCV003545209] Chr9:20715373 [GRCh38]
Chr9:20715372 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3341A>G (p.Asn1114Ser) single nucleotide variant Inborn genetic diseases [RCV004374275]|not provided [RCV003738596] Chr9:20933037 [GRCh38]
Chr9:20933036 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2371C>T (p.Arg791Cys) single nucleotide variant not provided [RCV003661711] Chr9:20881924 [GRCh38]
Chr9:20881923 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2438T>A (p.Ile813Asn) single nucleotide variant not provided [RCV003739085] Chr9:20881991 [GRCh38]
Chr9:20881990 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1191C>T (p.His397=) single nucleotide variant FOCAD-related disorder [RCV003909083]|not provided [RCV003696085] Chr9:20781923 [GRCh38]
Chr9:20781922 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.782G>A (p.Trp261Ter) single nucleotide variant not provided [RCV003572860] Chr9:20770114 [GRCh38]
Chr9:20770113 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.907-16C>T single nucleotide variant not provided [RCV003547090] Chr9:20778665 [GRCh38]
Chr9:20778664 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4378-6T>C single nucleotide variant not provided [RCV003576877] Chr9:20981420 [GRCh38]
Chr9:20981419 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.5257-20A>G single nucleotide variant not provided [RCV003577331] Chr9:20993233 [GRCh38]
Chr9:20993232 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.393-13C>T single nucleotide variant not provided [RCV003575191] Chr9:20758077 [GRCh38]
Chr9:20758076 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1198-15G>A single nucleotide variant not provided [RCV003544304] Chr9:20789336 [GRCh38]
Chr9:20789335 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.510C>T (p.Cys170=) single nucleotide variant not provided [RCV003547517] Chr9:20764884 [GRCh38]
Chr9:20764883 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2503+6G>C single nucleotide variant not provided [RCV003547518] Chr9:20882062 [GRCh38]
Chr9:20882061 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2153= (p.Ser718=) variation not provided [RCV003660430] Chr9:20866975 [GRCh38]
Chr9:20866974 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3765A>G (p.Leu1255=) single nucleotide variant not provided [RCV003576237] Chr9:20948360 [GRCh38]
Chr9:20948359 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1115AAG[1] (p.Glu373del) microsatellite not provided [RCV003545332] Chr9:20781846..20781848 [GRCh38]
Chr9:20781845..20781847 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.935G>A (p.Gly312Glu) single nucleotide variant not provided [RCV003547155] Chr9:20778709 [GRCh38]
Chr9:20778708 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3529G>A (p.Gly1177Arg) single nucleotide variant not provided [RCV003548336] Chr9:20944748 [GRCh38]
Chr9:20944747 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3675+9G>A single nucleotide variant FOCAD-related disorder [RCV003929207]|not provided [RCV003549660] Chr9:20946829 [GRCh38]
Chr9:20946828 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.3611T>C (p.Ile1204Thr) single nucleotide variant not provided [RCV003697681] Chr9:20946756 [GRCh38]
Chr9:20946755 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4386C>G (p.Thr1462=) single nucleotide variant FOCAD-related disorder [RCV003956500]|not provided [RCV003724686] Chr9:20981434 [GRCh38]
Chr9:20981433 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.907-19T>C single nucleotide variant not provided [RCV003833979] Chr9:20778662 [GRCh38]
Chr9:20778661 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2908G>A (p.Val970Ile) single nucleotide variant not provided [RCV003549661] Chr9:20923715 [GRCh38]
Chr9:20923714 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3877-10A>C single nucleotide variant FOCAD-related disorder [RCV003909106]|not provided [RCV003717633] Chr9:20949594 [GRCh38]
Chr9:20949593 [GRCh37]
Chr9:9p21.3		 likely benign|uncertain significance
NM_001375567.1(FOCAD):c.904G>A (p.Glu302Lys) single nucleotide variant not provided [RCV003725726] Chr9:20770236 [GRCh38]
Chr9:20770235 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3930C>T (p.Val1310=) single nucleotide variant not provided [RCV003671698] Chr9:20949657 [GRCh38]
Chr9:20949656 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1193A>G (p.Gln398Arg) single nucleotide variant not provided [RCV003550018] Chr9:20781925 [GRCh38]
Chr9:20781924 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4241C>T (p.Pro1414Leu) single nucleotide variant not provided [RCV003550019] Chr9:20976528 [GRCh38]
Chr9:20976527 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2335A>G (p.Thr779Ala) single nucleotide variant not provided [RCV003580459] Chr9:20881888 [GRCh38]
Chr9:20881887 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.5257-18T>A single nucleotide variant not provided [RCV003671118] Chr9:20993235 [GRCh38]
Chr9:20993234 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3134C>T (p.Thr1045Met) single nucleotide variant not provided [RCV003558906] Chr9:20929413 [GRCh38]
Chr9:20929412 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4429A>G (p.Ile1477Val) single nucleotide variant not provided [RCV003724640] Chr9:20981477 [GRCh38]
Chr9:20981476 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3447C>T (p.Leu1149=) single nucleotide variant not provided [RCV003663693] Chr9:20944666 [GRCh38]
Chr9:20944665 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4728+11A>G single nucleotide variant not provided [RCV003549334] Chr9:20982457 [GRCh38]
Chr9:20982456 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1128T>C (p.Ser376=) single nucleotide variant FOCAD-related disorder [RCV003966605]|not provided [RCV003724785] Chr9:20781860 [GRCh38]
Chr9:20781859 [GRCh37]
Chr9:9p21.3		 likely benign|uncertain significance
NM_001375567.1(FOCAD):c.1394G>C (p.Gly465Ala) single nucleotide variant FOCAD-related disorder [RCV003929265]|not provided [RCV003560736] Chr9:20789547 [GRCh38]
Chr9:20789546 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.5251C>G (p.Gln1751Glu) single nucleotide variant not provided [RCV003696985] Chr9:20990369 [GRCh38]
Chr9:20990368 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.392+25_392+26dup duplication not provided [RCV003677055] Chr9:20740356..20740357 [GRCh38]
Chr9:20740355..20740356 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3496C>T (p.Leu1166Phe) single nucleotide variant not provided [RCV003732302] Chr9:20944715 [GRCh38]
Chr9:20944714 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4133-14A>G single nucleotide variant not provided [RCV003677241] Chr9:20976406 [GRCh38]
Chr9:20976405 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.5257-3T>G single nucleotide variant FOCAD-related disorder [RCV003908992]|not provided [RCV003552209] Chr9:20993250 [GRCh38]
Chr9:20993249 [GRCh37]
Chr9:9p21.3		 likely benign|uncertain significance
NM_001375567.1(FOCAD):c.3888A>G (p.Glu1296=) single nucleotide variant not provided [RCV003550768] Chr9:20949615 [GRCh38]
Chr9:20949614 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2807+12T>C single nucleotide variant not provided [RCV003677435] Chr9:20912966 [GRCh38]
Chr9:20912965 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4225G>A (p.Ala1409Thr) single nucleotide variant not provided [RCV003550731] Chr9:20976512 [GRCh38]
Chr9:20976511 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3805C>A (p.Pro1269Thr) single nucleotide variant not provided [RCV003733929] Chr9:20948857 [GRCh38]
Chr9:20948856 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2659A>G (p.Ile887Val) single nucleotide variant not provided [RCV003552672] Chr9:20907183 [GRCh38]
Chr9:20907182 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4831C>T (p.Arg1611Cys) single nucleotide variant not provided [RCV003734966] Chr9:20986390 [GRCh38]
Chr9:20986389 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2890C>G (p.Leu964Val) single nucleotide variant FOCAD-related disorder [RCV003919313]|not provided [RCV003711514] Chr9:20923697 [GRCh38]
Chr9:20923696 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1666C>T (p.Arg556Ter) single nucleotide variant not provided [RCV003842927] Chr9:20820944 [GRCh38]
Chr9:20820943 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.5299G>T (p.Ala1767Ser) single nucleotide variant not provided [RCV003729975] Chr9:20993295 [GRCh38]
Chr9:20993294 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2113A>G (p.Ile705Val) single nucleotide variant FOCAD-related disorder [RCV003946660]|Inborn genetic diseases [RCV004369057]|not provided [RCV003550599] Chr9:20866935 [GRCh38]
Chr9:20866934 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.3079-9A>G single nucleotide variant not provided [RCV003711953] Chr9:20929349 [GRCh38]
Chr9:20929348 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2201A>C (p.Glu734Ala) single nucleotide variant not provided [RCV003730989] Chr9:20874691 [GRCh38]
Chr9:20874690 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.906+20A>T single nucleotide variant not provided [RCV003684000] Chr9:20770258 [GRCh38]
Chr9:20770257 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2077A>G (p.Ser693Gly) single nucleotide variant not provided [RCV003720380] Chr9:20865947 [GRCh38]
Chr9:20865946 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.51A>G (p.Gln17=) single nucleotide variant not provided [RCV003720393] Chr9:20715404 [GRCh38]
Chr9:20715403 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.393-14_393-13insG insertion not provided [RCV003551702] Chr9:20758076..20758077 [GRCh38]
Chr9:20758075..20758076 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1197+14C>G single nucleotide variant not provided [RCV003551714] Chr9:20781943 [GRCh38]
Chr9:20781942 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2997T>C (p.Val999=) single nucleotide variant FOCAD-related disorder [RCV003939761] Chr9:20926336 [GRCh38]
Chr9:20926335 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4821T>C (p.Ala1607=) single nucleotide variant not provided [RCV003552412] Chr9:20986380 [GRCh38]
Chr9:20986379 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1226C>A (p.Thr409Asn) single nucleotide variant not provided [RCV003556611] Chr9:20789379 [GRCh38]
Chr9:20789378 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2616T>G (p.Leu872=) single nucleotide variant not provided [RCV003719515] Chr9:20885221 [GRCh38]
Chr9:20885220 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.376A>G (p.Ser126Gly) single nucleotide variant not provided [RCV003720212] Chr9:20740324 [GRCh38]
Chr9:20740323 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2879C>G (p.Ala960Gly) single nucleotide variant not provided [RCV003720257] Chr9:20923686 [GRCh38]
Chr9:20923685 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.142T>C (p.Leu48=) single nucleotide variant FOCAD-related disorder [RCV003939788] Chr9:20720389 [GRCh38]
Chr9:20720388 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1393G>A (p.Gly465Arg) single nucleotide variant FOCAD-related disorder [RCV003901184]|not provided [RCV003555171] Chr9:20789546 [GRCh38]
Chr9:20789545 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2584G>C (p.Gly862Arg) single nucleotide variant not provided [RCV003551925] Chr9:20885189 [GRCh38]
Chr9:20885188 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.5046T>C (p.Val1682=) single nucleotide variant FOCAD-related disorder [RCV003946746]|not provided [RCV003568439] Chr9:20990164 [GRCh38]
Chr9:20990163 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4999G>A (p.Asp1667Asn) single nucleotide variant not provided [RCV003675986] Chr9:20988424 [GRCh38]
Chr9:20988423 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.5125G>A (p.Ala1709Thr) single nucleotide variant FOCAD-related disorder [RCV003919326]|not provided [RCV003719522] Chr9:20990243 [GRCh38]
Chr9:20990242 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.133-12G>A single nucleotide variant not provided [RCV003550732] Chr9:20720368 [GRCh38]
Chr9:20720367 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.392+26del deletion not provided [RCV003676420] Chr9:20740357 [GRCh38]
Chr9:20740356 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.2685A>C (p.Ala895=) single nucleotide variant not provided [RCV003557011] Chr9:20907209 [GRCh38]
Chr9:20907208 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2191-14G>A single nucleotide variant not provided [RCV003542249] Chr9:20874667 [GRCh38]
Chr9:20874666 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3427G>A (p.Val1143Ile) single nucleotide variant not provided [RCV003729242] Chr9:20944646 [GRCh38]
Chr9:20944645 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2949C>T (p.Asp983=) single nucleotide variant not provided [RCV003555766] Chr9:20923756 [GRCh38]
Chr9:20923755 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.370A>G (p.Ile124Val) single nucleotide variant not provided [RCV003551172] Chr9:20740318 [GRCh38]
Chr9:20740317 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.5113G>C (p.Glu1705Gln) single nucleotide variant not provided [RCV003732848] Chr9:20990231 [GRCh38]
Chr9:20990230 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2685A>G (p.Ala895=) single nucleotide variant FOCAD-related disorder [RCV003929227]|not provided [RCV003550576] Chr9:20907209 [GRCh38]
Chr9:20907208 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2968C>A (p.Pro990Thr) single nucleotide variant FOCAD-related disorder [RCV003969491] Chr9:20926307 [GRCh38]
Chr9:20926306 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.3165T>C (p.Ile1055=) single nucleotide variant FOCAD-related disorder [RCV003901473] Chr9:20929444 [GRCh38]
Chr9:20929443 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.5001C>T (p.Asp1667=) single nucleotide variant FOCAD-related disorder [RCV003901670] Chr9:20988426 [GRCh38]
Chr9:20988425 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.319C>T (p.His107Tyr) single nucleotide variant FOCAD-related disorder [RCV003967243] Chr9:20740267 [GRCh38]
Chr9:20740266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1663-10G>A single nucleotide variant FOCAD-related disorder [RCV003974176] Chr9:20820931 [GRCh38]
Chr9:20820930 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4729-9_4729-5dup duplication FOCAD-related disorder [RCV003958936] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4729-7_4729-5dup duplication FOCAD-related disorder [RCV003904269] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4812G>C (p.Leu1604=) single nucleotide variant FOCAD-related disorder [RCV003924223] Chr9:20986371 [GRCh38]
Chr9:20986370 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1686G>A (p.Gln562=) single nucleotide variant FOCAD-related disorder [RCV003976830] Chr9:20820964 [GRCh38]
Chr9:20820963 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1003C>A (p.Leu335Ile) single nucleotide variant FOCAD-related disorder [RCV003954923] Chr9:20781735 [GRCh38]
Chr9:20781734 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2626-4A>G single nucleotide variant FOCAD-related disorder [RCV003969735] Chr9:20907146 [GRCh38]
Chr9:20907145 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1721C>G (p.Ser574Trp) single nucleotide variant FOCAD-related disorder [RCV003902159] Chr9:20820999 [GRCh38]
Chr9:20820998 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3135G>T (p.Thr1045=) single nucleotide variant FOCAD-related disorder [RCV003983554] Chr9:20929414 [GRCh38]
Chr9:20929413 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4236C>G (p.Leu1412=) single nucleotide variant FOCAD-related disorder [RCV003896501] Chr9:20976523 [GRCh38]
Chr9:20976522 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4729-8_4729-5dup duplication FOCAD-related disorder [RCV003941708] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4359A>G (p.Pro1453=) single nucleotide variant FOCAD-related disorder [RCV003971446] Chr9:20978436 [GRCh38]
Chr9:20978435 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.555A>G (p.Pro185=) single nucleotide variant FOCAD-related disorder [RCV003956886] Chr9:20764929 [GRCh38]
Chr9:20764928 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4729-4G>T single nucleotide variant FOCAD-related disorder [RCV003943938] Chr9:20986284 [GRCh38]
Chr9:20986283 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.1137G>T (p.Gln379His) single nucleotide variant FOCAD-related disorder [RCV003921601] Chr9:20781869 [GRCh38]
Chr9:20781868 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4729-15_4729-5dup duplication FOCAD-related disorder [RCV003932148] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.3676-10T>A single nucleotide variant FOCAD-related disorder [RCV003967107] Chr9:20948261 [GRCh38]
Chr9:20948260 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4729-17_4729-5dup duplication FOCAD-related disorder [RCV003974039] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1422C>T (p.Val474=) single nucleotide variant FOCAD-related disorder [RCV003947359] Chr9:20789575 [GRCh38]
Chr9:20789574 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.133-10T>G single nucleotide variant FOCAD-related disorder [RCV003934034] Chr9:20720370 [GRCh38]
Chr9:20720369 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.3545C>T (p.Thr1182Met) single nucleotide variant FOCAD-related disorder [RCV003931735] Chr9:20944764 [GRCh38]
Chr9:20944763 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4336T>C (p.Leu1446=) single nucleotide variant FOCAD-related disorder [RCV003981720] Chr9:20978413 [GRCh38]
Chr9:20978412 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2107-6A>C single nucleotide variant FOCAD-related disorder [RCV003934051] Chr9:20866923 [GRCh38]
Chr9:20866922 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.5112G>C (p.Gln1704His) single nucleotide variant not provided [RCV004546369] Chr9:20990230 [GRCh38]
Chr9:20990229 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4729-10_4729-5dup duplication FOCAD-related disorder [RCV003924319] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4729-12_4729-5dup duplication FOCAD-related disorder [RCV003929735] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4729-20_4729-5dup duplication FOCAD-related disorder [RCV003941938] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4051+2T>C single nucleotide variant not provided [RCV003887676] Chr9:20951100 [GRCh38]
Chr9:20951099 [GRCh37]
Chr9:9p21.3		 pathogenic
NM_001375567.1(FOCAD):c.1296T>C (p.Ser432=) single nucleotide variant FOCAD-related disorder [RCV003959854] Chr9:20789449 [GRCh38]
Chr9:20789448 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.5244A>G (p.Glu1748=) single nucleotide variant FOCAD-related disorder [RCV003893735] Chr9:20990362 [GRCh38]
Chr9:20990361 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.494+7T>C single nucleotide variant FOCAD-related disorder [RCV003896839] Chr9:20758198 [GRCh38]
Chr9:20758197 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTT insertion not provided [RCV004546181] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 benign
NM_001375567.1(FOCAD):c.3429T>G (p.Val1143=) single nucleotide variant FOCAD-related disorder [RCV003924071] Chr9:20944648 [GRCh38]
Chr9:20944647 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.3078+9A>G single nucleotide variant FOCAD-related disorder [RCV003959543] Chr9:20926426 [GRCh38]
Chr9:20926425 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.948A>G (p.Leu316=) single nucleotide variant FOCAD-related disorder [RCV003894118] Chr9:20778722 [GRCh38]
Chr9:20778721 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1051C>T (p.Leu351=) single nucleotide variant FOCAD-related disorder [RCV003897320] Chr9:20781783 [GRCh38]
Chr9:20781782 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.1725G>T (p.Val575=) single nucleotide variant FOCAD-related disorder [RCV003954311] Chr9:20821003 [GRCh38]
Chr9:20821002 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.3111C>A (p.Ala1037=) single nucleotide variant FOCAD-related disorder [RCV003913953] Chr9:20929390 [GRCh38]
Chr9:20929389 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2861C>T (p.Pro954Leu) single nucleotide variant FOCAD-related disorder [RCV003894393] Chr9:20923668 [GRCh38]
Chr9:20923667 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4729-11_4729-5dup duplication FOCAD-related disorder [RCV003956860] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2654G>A (p.Arg885His) single nucleotide variant FOCAD-related disorder [RCV003969395]|Inborn genetic diseases [RCV004621950] Chr9:20907178 [GRCh38]
Chr9:20907177 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4729-13_4729-5dup duplication FOCAD-related disorder [RCV003907224] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.494+5del deletion FOCAD-related disorder [RCV003899721] Chr9:20758196 [GRCh38]
Chr9:20758195 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.3390C>A (p.Asp1130Glu) single nucleotide variant not provided [RCV003887675] Chr9:20933086 [GRCh38]
Chr9:20933085 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4729-19_4729-5dup duplication FOCAD-related disorder [RCV003971486] Chr9:20986266..20986267 [GRCh38]
Chr9:20986265..20986266 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2961+1G>T single nucleotide variant Liver disease, severe congenital [RCV003990836] Chr9:20923769 [GRCh38]
Chr9:20923768 [GRCh37]
Chr9:9p21.3		 likely pathogenic
NM_001375567.1(FOCAD):c.3498C>G (p.Leu1166=) single nucleotide variant FOCAD-related disorder [RCV003971975] Chr9:20944717 [GRCh38]
Chr9:20944716 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2719G>A (p.Gly907Arg) single nucleotide variant FOCAD-related disorder [RCV003979695] Chr9:20912866 [GRCh38]
Chr9:20912865 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1198-1G>C single nucleotide variant FOCAD-related disorder [RCV003917260] Chr9:20789350 [GRCh38]
Chr9:20789349 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1606A>G (p.Thr536Ala) single nucleotide variant FOCAD-related disorder [RCV003897102] Chr9:20820369 [GRCh38]
Chr9:20820368 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.122C>A (p.Ser41Tyr) single nucleotide variant Inborn genetic diseases [RCV004392040] Chr9:20717858 [GRCh38]
Chr9:20717857 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1957C>A (p.Pro653Thr) single nucleotide variant Inborn genetic diseases [RCV004392044] Chr9:20862614 [GRCh38]
Chr9:20862613 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3862G>A (p.Gly1288Arg) single nucleotide variant Inborn genetic diseases [RCV004392054] Chr9:20948914 [GRCh38]
Chr9:20948913 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4820C>T (p.Ala1607Val) single nucleotide variant Inborn genetic diseases [RCV004392059] Chr9:20986379 [GRCh38]
Chr9:20986378 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.805A>T (p.Ser269Cys) single nucleotide variant Inborn genetic diseases [RCV004392065] Chr9:20770137 [GRCh38]
Chr9:20770136 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1333A>G (p.Thr445Ala) single nucleotide variant Inborn genetic diseases [RCV004392041] Chr9:20789486 [GRCh38]
Chr9:20789485 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2795C>T (p.Thr932Ile) single nucleotide variant Inborn genetic diseases [RCV004392049] Chr9:20912942 [GRCh38]
Chr9:20912941 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.5058C>A (p.Asp1686Glu) single nucleotide variant Inborn genetic diseases [RCV004392063] Chr9:20990176 [GRCh38]
Chr9:20990175 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.906+1G>A single nucleotide variant Inborn genetic diseases [RCV004392067] Chr9:20770239 [GRCh38]
Chr9:20770238 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1532A>G (p.Tyr511Cys) single nucleotide variant Inborn genetic diseases [RCV004392042] Chr9:20819872 [GRCh38]
Chr9:20819871 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3292T>C (p.Ser1098Pro) single nucleotide variant Inborn genetic diseases [RCV004392052] Chr9:20929571 [GRCh38]
Chr9:20929570 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3475C>G (p.Arg1159Gly) single nucleotide variant Inborn genetic diseases [RCV004392053] Chr9:20944694 [GRCh38]
Chr9:20944693 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4689G>A (p.Met1563Ile) single nucleotide variant Inborn genetic diseases [RCV004392057] Chr9:20982407 [GRCh38]
Chr9:20982406 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.728C>T (p.Ala243Val) single nucleotide variant Inborn genetic diseases [RCV004392064] Chr9:20770060 [GRCh38]
Chr9:20770059 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.831A>T (p.Glu277Asp) single nucleotide variant Inborn genetic diseases [RCV004392066] Chr9:20770163 [GRCh38]
Chr9:20770162 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1585A>G (p.Ile529Val) single nucleotide variant Inborn genetic diseases [RCV004392043] Chr9:20820348 [GRCh38]
Chr9:20820347 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.2689A>G (p.Met897Val) single nucleotide variant Inborn genetic diseases [RCV004392048] Chr9:20907213 [GRCh38]
Chr9:20907212 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3112A>G (p.Ile1038Val) single nucleotide variant Inborn genetic diseases [RCV004392050] Chr9:20929391 [GRCh38]
Chr9:20929390 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2509A>G (p.Met837Val) single nucleotide variant Inborn genetic diseases [RCV004392046] Chr9:20885114 [GRCh38]
Chr9:20885113 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4318C>A (p.Gln1440Lys) single nucleotide variant Inborn genetic diseases [RCV004392056] Chr9:20978395 [GRCh38]
Chr9:20978394 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2407C>T (p.Arg803Cys) single nucleotide variant Inborn genetic diseases [RCV004392045] Chr9:20881960 [GRCh38]
Chr9:20881959 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4055C>T (p.Pro1352Leu) single nucleotide variant Inborn genetic diseases [RCV004392055] Chr9:20952988 [GRCh38]
Chr9:20952987 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4956A>C (p.Arg1652Ser) single nucleotide variant Inborn genetic diseases [RCV004392062] Chr9:20988381 [GRCh38]
Chr9:20988380 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2522A>G (p.Tyr841Cys) single nucleotide variant Inborn genetic diseases [RCV004392047] Chr9:20885127 [GRCh38]
Chr9:20885126 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3264C>G (p.His1088Gln) single nucleotide variant Inborn genetic diseases [RCV004392051] Chr9:20929543 [GRCh38]
Chr9:20929542 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4901A>T (p.Asn1634Ile) single nucleotide variant Inborn genetic diseases [RCV004392060] Chr9:20986460 [GRCh38]
Chr9:20986459 [GRCh37]
Chr9:9p21.3		 uncertain significance
NC_000009.11:g.(?_20862557)_(20916956_?)del deletion not provided [RCV004582126] Chr9:20862557..20916956 [GRCh37]
Chr9:9p21.3		 uncertain significance
NC_000009.11:g.(?_20758069)_(20765092_?)del deletion not provided [RCV004582127] Chr9:20758069..20765092 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1187A>C (p.Asp396Ala) single nucleotide variant Inborn genetic diseases [RCV004626067] Chr9:20781919 [GRCh38]
Chr9:20781918 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1805A>G (p.His602Arg) single nucleotide variant Inborn genetic diseases [RCV004626068] Chr9:20823000 [GRCh38]
Chr9:20822999 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.4949A>G (p.Tyr1650Cys) single nucleotide variant Inborn genetic diseases [RCV004626069] Chr9:20988374 [GRCh38]
Chr9:20988373 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.982A>T (p.Ile328Phe) single nucleotide variant Inborn genetic diseases [RCV004626070] Chr9:20778756 [GRCh38]
Chr9:20778755 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1336G>T (p.Ala446Ser) single nucleotide variant Inborn genetic diseases [RCV004626071] Chr9:20789489 [GRCh38]
Chr9:20789488 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.288A>G (p.Arg96=) single nucleotide variant Inborn genetic diseases [RCV004626072] Chr9:20740236 [GRCh38]
Chr9:20740235 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.304A>G (p.Ile102Val) single nucleotide variant Inborn genetic diseases [RCV004626074] Chr9:20740252 [GRCh38]
Chr9:20740251 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.253C>T (p.Leu85Phe) single nucleotide variant Inborn genetic diseases [RCV004626075] Chr9:20720500 [GRCh38]
Chr9:20720499 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1182A>C (p.Arg394Ser) single nucleotide variant Inborn genetic diseases [RCV004626076] Chr9:20781914 [GRCh38]
Chr9:20781913 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3500G>T (p.Arg1167Leu) single nucleotide variant Inborn genetic diseases [RCV004626077] Chr9:20944719 [GRCh38]
Chr9:20944718 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2630A>C (p.His877Pro) single nucleotide variant Inborn genetic diseases [RCV004626078] Chr9:20907154 [GRCh38]
Chr9:20907153 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1042T>C (p.Ser348Pro) single nucleotide variant Inborn genetic diseases [RCV004626079] Chr9:20781774 [GRCh38]
Chr9:20781773 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.3047C>A (p.Pro1016His) single nucleotide variant Inborn genetic diseases [RCV004626080] Chr9:20926386 [GRCh38]
Chr9:20926385 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.1336G>A (p.Ala446Thr) single nucleotide variant Inborn genetic diseases [RCV004626081] Chr9:20789489 [GRCh38]
Chr9:20789488 [GRCh37]
Chr9:9p21.3		 likely benign
NM_001375567.1(FOCAD):c.4376G>A (p.Ser1459Asn) single nucleotide variant Inborn genetic diseases [RCV004626082] Chr9:20978453 [GRCh38]
Chr9:20978452 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_001375567.1(FOCAD):c.2699C>A (p.Ala900Asp) single nucleotide variant Inborn genetic diseases [RCV004626083] Chr9:20907223 [GRCh38]
Chr9:20907222 [GRCh37]
Chr9:9p21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1857
Count of miRNA genes:862
Interacting mature miRNAs:1014
Transcripts:ENST00000338382, ENST00000380249, ENST00000603044, ENST00000603492, ENST00000603552, ENST00000603610, ENST00000603631, ENST00000603648, ENST00000603695, ENST00000603844, ENST00000604036, ENST00000604103, ENST00000604254, ENST00000604828, ENST00000605031, ENST00000605086, ENST00000605852
Prediction methods: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
406979200GWAS628176_Hmedial orbital frontal cortex volume measurement QTL GWAS628176 (human)0.000008orbitofrontal cortex morphology trait (VT:0004170)92074707120747072Human
406986630GWAS635606_Hmean corpuscular volume QTL GWAS635606 (human)2e-20mean corpuscular volumemean corpuscular volume (CMO:0000038)92080527120805272Human
407234510GWAS883486_Hmean corpuscular volume QTL GWAS883486 (human)4e-12mean corpuscular volumemean corpuscular volume (CMO:0000038)92080527120805272Human
407117320GWAS766296_Hsmoking status measurement QTL GWAS766296 (human)3e-08smoking status measurement92067645520676456Human
407342603GWAS991579_Hschizophrenia QTL GWAS991579 (human)0.000003schizophrenia92072326120723262Human
407100813GWAS749789_Herythrocyte count QTL GWAS749789 (human)2e-11erythrocyte countred blood cell count (CMO:0000025)92089031720890318Human
407249558GWAS898534_Hcytokine measurement QTL GWAS898534 (human)2e-09cytokine measurementblood cytokine measurement (CMO:0001924)92092361920923620Human
407249557GWAS898533_Hcytokine measurement QTL GWAS898533 (human)1e-09cytokine measurementblood cytokine measurement (CMO:0001924)92082870620828707Human
407231377GWAS880353_Hbone density QTL GWAS880353 (human)3e-36bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)92070500520705006Human
407334483GWAS983459_Hmean corpuscular volume QTL GWAS983459 (human)2e-12mean corpuscular volumemean corpuscular volume (CMO:0000038)92087930220879303Human
2302773MAMTS18_HMammary tumor susceptibility QTL 18 (human)0.039Mammary tumor susceptibility9528914931289149Human
406991572GWAS640548_Hcomparative body size at age 10, self-reported QTL GWAS640548 (human)1e-08comparative body size at age 10, self-reported92092086920920870Human
2315898GLUCO191_HGlucose level QTL 191 (human)1.83Glucose level9528914931289149Human
406931291GWAS580267_Hsmoking initiation QTL GWAS580267 (human)3e-23smoking initiation92067645520676456Human
407249628GWAS898604_Htype 2 diabetes mellitus QTL GWAS898604 (human)6e-10type 2 diabetes mellitus92079062320790624Human
406991448GWAS640424_Hmean corpuscular hemoglobin concentration QTL GWAS640424 (human)5e-17mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)92083151320831514Human
2293433PRSTS223_HProstate tumor susceptibility QTL 223 (human)1.6Prostate tumor susceptibility9528914931289149Human
407118879GWAS767855_Hmean corpuscular hemoglobin QTL GWAS767855 (human)5e-14mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)92079573620795737Human
407234395GWAS883371_Hbone density QTL GWAS883371 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)92079106120791062Human
407065186GWAS714162_Hred blood cell density measurement QTL GWAS714162 (human)2e-15red blood cell density measurement92080527120805272Human
406911331GWAS560307_Hsmoking initiation QTL GWAS560307 (human)2e-23smoking initiation92067645520676456Human
407154785GWAS803761_Htype 2 diabetes mellitus QTL GWAS803761 (human)0.000002type 2 diabetes mellitus92066270420662705Human
407149665GWAS798641_Hplatelet count QTL GWAS798641 (human)2e-10platelet quantity (VT:0003179)platelet count (CMO:0000029)92089031720890318Human
406996196GWAS645172_Hdaytime rest measurement QTL GWAS645172 (human)8e-10daytime rest measurement92096228320962284Human
1357299AASTH47_HAllergic/atopic asthma related QTL 47 (human)0.00028Reversible airflow obstruction9528914931289149Human
407004389GWAS653365_Hmean corpuscular hemoglobin QTL GWAS653365 (human)3e-12mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)92083151320831514Human
407107300GWAS756276_Herythrocyte count QTL GWAS756276 (human)5e-10erythrocyte countred blood cell count (CMO:0000025)92083964820839649Human
407118829GWAS767805_Hsmoking status measurement QTL GWAS767805 (human)6e-11smoking status measurement92067645520676456Human
406998443GWAS647419_Hmean corpuscular volume QTL GWAS647419 (human)4e-21mean corpuscular volumemean corpuscular volume (CMO:0000038)92080527120805272Human
406931243GWAS580219_Hsmoking initiation QTL GWAS580219 (human)4e-17smoking initiation92066304020663041Human
406931242GWAS580218_Hsmoking initiation QTL GWAS580218 (human)5e-11smoking initiation92065809020658091Human
407292970GWAS941946_Hfactor VII measurement QTL GWAS941946 (human)0.000005factor VII measurement92076491720764918Human
407022254GWAS671230_Hmean corpuscular volume QTL GWAS671230 (human)6e-13mean corpuscular volumemean corpuscular volume (CMO:0000038)92080527120805272Human
407064238GWAS713214_Hred blood cell density measurement QTL GWAS713214 (human)7e-15red blood cell density measurement92080509020805091Human
407339177GWAS988153_Hmean corpuscular hemoglobin QTL GWAS988153 (human)2e-08mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)92083324520833246Human
407292969GWAS941945_Hfactor VII measurement QTL GWAS941945 (human)0.000005factor VII measurement92094469720944698Human
407280951GWAS929927_Hvaginal microbiome measurement QTL GWAS929927 (human)0.00001vaginal microbiome measurement92086367420863675Human
407042352GWAS691328_HAge-related nuclear cataract QTL GWAS691328 (human)0.0000002Age-related nuclear cataract92084443220844433Human
407342389GWAS991365_Herythrocyte count QTL GWAS991365 (human)8e-12erythrocyte countred blood cell count (CMO:0000025)92089691620896917Human
406933298GWAS582274_HCleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS582274 (human)0.000009Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement92090851420908515Human
1643245BW137_HBody weight QTL 137 (human)2.28Body weight9528914931289149Human
407306416GWAS955392_Hlymphocyte count QTL GWAS955392 (human)1e-10lymphocyte countblood lymphocyte count (CMO:0000031)92084122320841224Human
406993530GWAS642506_Hmean corpuscular hemoglobin concentration QTL GWAS642506 (human)2e-17mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)92083138320831384Human
407216829GWAS865805_Hcytokine measurement QTL GWAS865805 (human)2e-08cytokine measurementblood cytokine measurement (CMO:0001924)92083209620832097Human
2293400PRSTS224_HProstate tumor susceptibility QTL 224 (human)1.62Prostate tumor susceptibility9528914931289149Human

Markers in Region
A009E47  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37920,995,671 - 20,995,860UniSTSGRCh37
Build 36920,985,671 - 20,985,860RGDNCBI36
Celera920,933,949 - 20,934,138RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef920,958,528 - 20,958,717UniSTS
GeneMap99-GB4 RH Map965.95UniSTS
NCBI RH Map9230.1UniSTS
D9S1730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37920,738,515 - 20,738,639UniSTSGRCh37
Build 36920,728,515 - 20,728,639RGDNCBI36
Celera920,677,008 - 20,677,132RGD
Cytogenetic Map9p21UniSTS
HuRef920,701,484 - 20,701,608UniSTS
Whitehead-YAC Contig Map9 UniSTS
WI-15647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37920,995,791 - 20,995,938UniSTSGRCh37
Build 36920,985,791 - 20,985,938RGDNCBI36
Celera920,934,069 - 20,934,216RGD
Cytogenetic Map9p21UniSTS
HuRef920,958,648 - 20,958,795UniSTS
GeneMap99-GB4 RH Map962.78UniSTS
Whitehead-RH Map962.0UniSTS
NCBI RH Map9225.3UniSTS
SHGC-106080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37920,869,881 - 20,870,224UniSTSGRCh37
Build 36920,859,881 - 20,860,224RGDNCBI36
Celera920,808,422 - 20,808,765RGD
Cytogenetic Map9p21UniSTS
HuRef920,833,227 - 20,833,570UniSTS
TNG Radiation Hybrid Map911289.0UniSTS
SHGC-85660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37920,788,910 - 20,789,184UniSTSGRCh37
Build 36920,778,910 - 20,779,184RGDNCBI36
Celera920,727,452 - 20,727,726RGD
Cytogenetic Map9p21UniSTS
HuRef920,752,208 - 20,752,482UniSTS
TNG Radiation Hybrid Map910670.0UniSTS
SHGC-146263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37920,742,499 - 20,742,804UniSTSGRCh37
Build 36920,732,499 - 20,732,804RGDNCBI36
Celera920,680,992 - 20,681,297RGD
Cytogenetic Map9p21UniSTS
HuRef920,705,471 - 20,705,776UniSTS
TNG Radiation Hybrid Map910598.0UniSTS
SHGC-6726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37920,731,223 - 20,731,390UniSTSGRCh37
Build 36920,721,223 - 20,721,390RGDNCBI36
Celera920,669,715 - 20,669,882RGD
Cytogenetic Map9p21UniSTS
HuRef920,694,189 - 20,694,350UniSTS
STS-Z40712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37920,995,593 - 20,995,657UniSTSGRCh37
Build 36920,985,593 - 20,985,657RGDNCBI36
Celera920,933,871 - 20,933,935RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef920,958,450 - 20,958,514UniSTS
GeneMap99-GB4 RH Map958.93UniSTS
NCBI RH Map9167.7UniSTS
SHGC-14450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37920,844,701 - 20,844,905UniSTSGRCh37
Build 36920,834,701 - 20,834,905RGDNCBI36
Celera920,783,239 - 20,783,443RGD
Cytogenetic Map9p21UniSTS
HuRef920,807,987 - 20,808,191UniSTS
RH16145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37920,995,692 - 20,995,818UniSTSGRCh37
Build 36920,985,692 - 20,985,818RGDNCBI36
Celera920,933,970 - 20,934,096RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef920,958,549 - 20,958,675UniSTS
GeneMap99-GB4 RH Map962.78UniSTS
SHGC-5879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37920,760,872 - 20,761,071UniSTSGRCh37
Build 36920,750,872 - 20,751,071RGDNCBI36
Celera920,699,365 - 20,699,564RGD
Cytogenetic Map9p21UniSTS
HuRef920,723,847 - 20,724,046UniSTS
G32493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37920,995,671 - 20,995,860UniSTSGRCh37
Celera920,933,949 - 20,934,138UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map9p21.3UniSTS
HuRef920,958,528 - 20,958,717UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001375567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB058700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL392163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY139834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB288580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000338382   ⟹   ENSP00000344307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,684,259 - 20,995,950 (+)Ensembl
Ensembl Acc Id: ENST00000380249   ⟹   ENSP00000369599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,658,309 - 20,995,955 (+)Ensembl
Ensembl Acc Id: ENST00000603044   ⟹   ENSP00000475075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,927,765 - 20,946,731 (+)Ensembl
Ensembl Acc Id: ENST00000603492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,789,334 - 20,823,049 (+)Ensembl
Ensembl Acc Id: ENST00000603552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,881,906 - 20,885,529 (+)Ensembl
Ensembl Acc Id: ENST00000603610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,896,971 - 20,912,908 (+)Ensembl
Ensembl Acc Id: ENST00000603631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,952,420 - 20,981,461 (+)Ensembl
Ensembl Acc Id: ENST00000603648   ⟹   ENSP00000475030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,820,389 - 20,865,967 (+)Ensembl
Ensembl Acc Id: ENST00000603695   ⟹   ENSP00000474683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,928,944 - 20,944,717 (+)Ensembl
Ensembl Acc Id: ENST00000603844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,822,993 - 20,863,147 (+)Ensembl
Ensembl Acc Id: ENST00000604036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,683,978 - 20,720,421 (+)Ensembl
Ensembl Acc Id: ENST00000604103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,726,351 - 20,770,133 (+)Ensembl
Ensembl Acc Id: ENST00000604254   ⟹   ENSP00000474563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,927,802 - 20,948,394 (+)Ensembl
Ensembl Acc Id: ENST00000604828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,873,843 - 20,875,815 (+)Ensembl
Ensembl Acc Id: ENST00000605031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,726,286 - 20,770,112 (+)Ensembl
Ensembl Acc Id: ENST00000605086   ⟹   ENSP00000474915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,820,294 - 20,995,948 (+)Ensembl
Ensembl Acc Id: ENST00000605852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl920,872,807 - 20,907,202 (+)Ensembl
RefSeq Acc Id: NM_001375567   ⟹   NP_001362496
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,684,259 - 20,995,950 (+)NCBI
T2T-CHM13v2.0920,698,088 - 21,009,826 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375568   ⟹   NP_001362497
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,684,259 - 20,995,950 (+)NCBI
T2T-CHM13v2.0920,698,088 - 21,009,826 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375570   ⟹   NP_001362499
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,684,259 - 20,995,950 (+)NCBI
T2T-CHM13v2.0920,698,088 - 21,009,826 (+)NCBI
Sequence:
RefSeq Acc Id: NM_017794   ⟹   NP_060264
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,658,309 - 20,995,950 (+)NCBI
GRCh37920,658,309 - 20,995,954 (+)NCBI
Build 36920,648,309 - 20,985,954 (+)NCBI Archive
Celera920,596,817 - 20,934,232 (+)RGD
HuRef920,620,945 - 20,958,811 (+)NCBI
CHM1_1920,658,014 - 20,995,735 (+)NCBI
T2T-CHM13v2.0920,672,105 - 21,009,826 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014852   ⟹   XP_016870341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,684,259 - 20,995,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014855   ⟹   XP_016870344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,658,725 - 20,995,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014856   ⟹   XP_016870345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,684,259 - 20,995,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014859   ⟹   XP_016870348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,755,923 - 20,995,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447586   ⟹   XP_024303354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,726,347 - 20,995,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423531   ⟹   XP_047279487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,684,259 - 20,995,950 (+)NCBI
RefSeq Acc Id: XM_047423532   ⟹   XP_047279488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,684,259 - 20,995,950 (+)NCBI
RefSeq Acc Id: XM_047423533   ⟹   XP_047279489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,684,259 - 20,995,950 (+)NCBI
RefSeq Acc Id: XM_047423534   ⟹   XP_047279490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,684,259 - 20,995,950 (+)NCBI
RefSeq Acc Id: XM_047423535   ⟹   XP_047279491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,684,259 - 20,995,950 (+)NCBI
RefSeq Acc Id: XM_047423536   ⟹   XP_047279492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,684,259 - 20,995,950 (+)NCBI
RefSeq Acc Id: XM_047423537   ⟹   XP_047279493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,655,625 - 20,995,950 (+)NCBI
RefSeq Acc Id: XM_047423538   ⟹   XP_047279494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,684,259 - 20,995,950 (+)NCBI
RefSeq Acc Id: XM_047423539   ⟹   XP_047279495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,655,625 - 20,995,950 (+)NCBI
RefSeq Acc Id: XM_047423540   ⟹   XP_047279496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,684,259 - 20,995,950 (+)NCBI
RefSeq Acc Id: XM_054363166   ⟹   XP_054219141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0920,698,114 - 21,009,826 (+)NCBI
RefSeq Acc Id: XM_054363167   ⟹   XP_054219142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0920,708,349 - 21,009,826 (+)NCBI
RefSeq Acc Id: XM_054363168   ⟹   XP_054219143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0920,708,349 - 21,009,826 (+)NCBI
RefSeq Acc Id: XM_054363169   ⟹   XP_054219144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0920,698,114 - 21,009,826 (+)NCBI
RefSeq Acc Id: XM_054363170   ⟹   XP_054219145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0920,669,421 - 21,009,826 (+)NCBI
RefSeq Acc Id: XM_054363171   ⟹   XP_054219146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0920,698,088 - 21,009,826 (+)NCBI
RefSeq Acc Id: XM_054363172   ⟹   XP_054219147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0920,669,421 - 21,009,826 (+)NCBI
RefSeq Acc Id: XM_054363173   ⟹   XP_054219148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0920,698,088 - 21,009,826 (+)NCBI
RefSeq Acc Id: XM_054363174   ⟹   XP_054219149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0920,731,189 - 21,009,826 (+)NCBI
RefSeq Acc Id: XM_054363175   ⟹   XP_054219150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0920,739,002 - 21,009,826 (+)NCBI
RefSeq Acc Id: XM_054363176   ⟹   XP_054219151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0920,769,723 - 21,009,826 (+)NCBI
RefSeq Acc Id: XM_054363177   ⟹   XP_054219152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0920,708,349 - 20,990,383 (+)NCBI
RefSeq Acc Id: XM_054363178   ⟹   XP_054219153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0920,708,349 - 20,958,631 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001362496 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362497 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362499 (Get FASTA)   NCBI Sequence Viewer  
  NP_060264 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870341 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870344 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870345 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870348 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303354 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279487 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279488 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279489 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279490 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279491 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279492 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279493 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279494 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279495 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279496 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219141 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219142 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219143 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219144 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219145 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219146 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219147 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219148 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219149 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219150 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219151 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219152 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219153 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH01246 (Get FASTA)   NCBI Sequence Viewer  
  AAN17740 (Get FASTA)   NCBI Sequence Viewer  
  BAA91129 (Get FASTA)   NCBI Sequence Viewer  
  BAB47426 (Get FASTA)   NCBI Sequence Viewer  
  BAB71203 (Get FASTA)   NCBI Sequence Viewer  
  BAD18787 (Get FASTA)   NCBI Sequence Viewer  
  BAG51471 (Get FASTA)   NCBI Sequence Viewer  
  CAH05580 (Get FASTA)   NCBI Sequence Viewer  
  EAW58627 (Get FASTA)   NCBI Sequence Viewer  
  EAW58628 (Get FASTA)   NCBI Sequence Viewer  
  EAW58629 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000344307
  ENSP00000344307.6
  ENSP00000369599
  ENSP00000369599.1
  ENSP00000474563.1
  ENSP00000474683.1
  ENSP00000475030.2
  ENSP00000475075.1
GenBank Protein Q5VW36 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_060264   ⟸   NM_017794
- Peptide Label: isoform 1
- UniProtKB: Q9BVF3 (UniProtKB/Swiss-Prot),   Q96MS9 (UniProtKB/Swiss-Prot),   Q96JM8 (UniProtKB/Swiss-Prot),   Q8IZG0 (UniProtKB/Swiss-Prot),   Q6ZME1 (UniProtKB/Swiss-Prot),   D3DRJ9 (UniProtKB/Swiss-Prot),   Q9NX87 (UniProtKB/Swiss-Prot),   Q5VW36 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016870344   ⟸   XM_017014855
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016870345   ⟸   XM_017014856
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016870341   ⟸   XM_017014852
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016870348   ⟸   XM_017014859
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024303354   ⟸   XM_024447586
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001362496   ⟸   NM_001375567
- Peptide Label: isoform 1
- UniProtKB: Q9BVF3 (UniProtKB/Swiss-Prot),   Q96MS9 (UniProtKB/Swiss-Prot),   Q96JM8 (UniProtKB/Swiss-Prot),   Q8IZG0 (UniProtKB/Swiss-Prot),   Q6ZME1 (UniProtKB/Swiss-Prot),   Q5VW36 (UniProtKB/Swiss-Prot),   D3DRJ9 (UniProtKB/Swiss-Prot),   Q9NX87 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001362497   ⟸   NM_001375568
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001362499   ⟸   NM_001375570
- Peptide Label: isoform 3
Ensembl Acc Id: ENSP00000344307   ⟸   ENST00000338382
Ensembl Acc Id: ENSP00000475075   ⟸   ENST00000603044
Ensembl Acc Id: ENSP00000475030   ⟸   ENST00000603648
Ensembl Acc Id: ENSP00000474683   ⟸   ENST00000603695
Ensembl Acc Id: ENSP00000474563   ⟸   ENST00000604254
Ensembl Acc Id: ENSP00000474915   ⟸   ENST00000605086
Ensembl Acc Id: ENSP00000369599   ⟸   ENST00000380249
RefSeq Acc Id: XP_047279493   ⟸   XM_047423537
- Peptide Label: isoform X4
- UniProtKB: Q9BVF3 (UniProtKB/Swiss-Prot),   Q96MS9 (UniProtKB/Swiss-Prot),   Q96JM8 (UniProtKB/Swiss-Prot),   Q8IZG0 (UniProtKB/Swiss-Prot),   Q6ZME1 (UniProtKB/Swiss-Prot),   Q5VW36 (UniProtKB/Swiss-Prot),   D3DRJ9 (UniProtKB/Swiss-Prot),   Q9NX87 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279495   ⟸   XM_047423539
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279488   ⟸   XM_047423532
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047279491   ⟸   XM_047423535
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047279490   ⟸   XM_047423534
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047279489   ⟸   XM_047423533
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279492   ⟸   XM_047423536
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047279487   ⟸   XM_047423531
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047279494   ⟸   XM_047423538
- Peptide Label: isoform X4
- UniProtKB: Q9BVF3 (UniProtKB/Swiss-Prot),   Q96MS9 (UniProtKB/Swiss-Prot),   Q96JM8 (UniProtKB/Swiss-Prot),   Q8IZG0 (UniProtKB/Swiss-Prot),   Q6ZME1 (UniProtKB/Swiss-Prot),   Q5VW36 (UniProtKB/Swiss-Prot),   D3DRJ9 (UniProtKB/Swiss-Prot),   Q9NX87 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279496   ⟸   XM_047423540
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054219145   ⟸   XM_054363170
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054219147   ⟸   XM_054363172
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219146   ⟸   XM_054363171
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054219148   ⟸   XM_054363173
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054219141   ⟸   XM_054363166
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219144   ⟸   XM_054363169
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219143   ⟸   XM_054363168
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219142   ⟸   XM_054363167
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054219152   ⟸   XM_054363177
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054219153   ⟸   XM_054363178
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054219149   ⟸   XM_054363174
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054219150   ⟸   XM_054363175
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054219151   ⟸   XM_054363176
- Peptide Label: isoform X7
Protein Domains
DUF3730   Focadhesin C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5VW36-F1-model_v2 AlphaFold Q5VW36 1-1801 view protein structure

Promoters
RGD ID:6807617
Promoter ID:HG_KWN:62773
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000338382,   ENST00000380249
Position:
Human AssemblyChrPosition (strand)Source
Build 36920,648,456 - 20,648,956 (+)MPROMDB
RGD ID:7214755
Promoter ID:EPDNEW_H13123
Type:initiation region
Name:FOCAD_2
Description:focadhesin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13124  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,658,339 - 20,658,399EPDNEW
RGD ID:7214757
Promoter ID:EPDNEW_H13124
Type:initiation region
Name:FOCAD_1
Description:focadhesin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13123  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38920,684,259 - 20,684,319EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23377 AgrOrtholog
COSMIC FOCAD COSMIC
Ensembl Genes ENSG00000188352 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000338382 ENTREZGENE
  ENST00000338382.11 UniProtKB/Swiss-Prot
  ENST00000380249 ENTREZGENE
  ENST00000380249.5 UniProtKB/Swiss-Prot
  ENST00000603044.5 UniProtKB/TrEMBL
  ENST00000603648.2 UniProtKB/TrEMBL
  ENST00000603695.1 UniProtKB/TrEMBL
  ENST00000604254.5 UniProtKB/TrEMBL
GTEx ENSG00000188352 GTEx
HGNC ID HGNC:23377 ENTREZGENE
Human Proteome Map FOCAD Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF3730 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Focadhesin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Focadhesin/RST1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54914 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54914 ENTREZGENE
OMIM 614606 OMIM
PANTHER FOCADHESIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16212 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF3730 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Focadhesin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134934777 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KNV9_HUMAN UniProtKB/TrEMBL
  D3DRJ9 ENTREZGENE
  FOCAD_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6ZME1 ENTREZGENE
  Q8IZG0 ENTREZGENE
  Q96JM8 ENTREZGENE
  Q96MS9 ENTREZGENE
  Q9BVF3 ENTREZGENE
  Q9NX87 ENTREZGENE
  S4R3N8_HUMAN UniProtKB/TrEMBL
  S4R3S9_HUMAN UniProtKB/TrEMBL
  S4R437_HUMAN UniProtKB/TrEMBL
  S4R450_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DRJ9 UniProtKB/Swiss-Prot
  Q6ZME1 UniProtKB/Swiss-Prot
  Q8IZG0 UniProtKB/Swiss-Prot
  Q96JM8 UniProtKB/Swiss-Prot
  Q96MS9 UniProtKB/Swiss-Prot
  Q9BVF3 UniProtKB/Swiss-Prot
  Q9NX87 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-03-27 FOCAD  focadhesin  KIAA1797  KIAA1797  Symbol and/or name change 5135510 APPROVED