IHH (Indian hedgehog signaling molecule) - Rat Genome Database

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Gene: IHH (Indian hedgehog signaling molecule) Homo sapiens
Analyze
Symbol: IHH
Name: Indian hedgehog signaling molecule
RGD ID: 1350368
HGNC Page HGNC:5956
Description: Enables calcium ion binding activity; patched binding activity; and very-low-density lipoprotein particle binding activity. Involved in several processes, including embryonic digit morphogenesis; positive regulation of smoothened signaling pathway; and smoothened signaling pathway. Located in extracellular region and plasma membrane. Implicated in acrocapitofemoral dysplasia; brachydactyly type A1; retinopathy of prematurity; and syndactyly type 1. Biomarker of autism spectrum disorder; familial adenomatous polyposis; and osteoarthritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BDA1; HHG-2; HHG2; indian hedgehog; Indian hedgehog homolog; indian hedgehog protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,054,424 - 219,060,921 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,054,424 - 219,060,921 (-)EnsemblGRCh38hg38GRCh38
GRCh372219,919,146 - 219,925,643 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,627,390 - 219,633,433 (-)NCBINCBI36Build 36hg18NCBI36
Celera2213,688,833 - 213,694,930 (-)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,773,140 - 211,779,240 (-)NCBIHuRef
CHM1_12219,926,506 - 219,932,606 (-)NCBICHM1_1
T2T-CHM13v2.02219,542,768 - 219,549,269 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
(2,4,5-trichlorophenoxy)acetic acid  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,3-bis(4-hydroxyphenyl)propionitrile  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-butan-2-yl-4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl]phenyl]-1,2,4-triazol-3-one  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
Bisphenol B  (ISO)
bromobenzene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
CGP 52608  (EXP)
CHIR 99021  (EXP)
chloroethene  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
corn oil  (ISO)
deguelin  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (ISO)
dichloroacetic acid  (ISO)
diethylstilbestrol  (ISO)
diuron  (ISO)
endosulfan  (ISO)
fipronil  (ISO)
folic acid  (ISO)
fulvestrant  (EXP,ISO)
genistein  (ISO)
glycidol  (ISO)
itraconazole  (ISO)
ketoconazole  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
methotrexate  (ISO)
Monobutylphthalate  (ISO)
N-nitrosodiethylamine  (ISO)
nevirapine  (ISO)
nicotine  (ISO)
ochratoxin A  (ISO)
orphenadrine  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenytoin  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
Ptaquiloside  (ISO)
quercetin  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
succimer  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
theophylline  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
bone resorption  (IEA,ISO)
branching involved in blood vessel morphogenesis  (IEA,ISO)
camera-type eye development  (IEA,ISO)
camera-type eye photoreceptor cell fate commitment  (IEA,ISO)
cartilage development  (IEA,IMP,ISO)
cell fate specification  (IBA,IEA,ISO)
cell maturation  (IEA,ISO)
cell population proliferation  (IEA,ISO)
cell-cell signaling  (IEA)
chondrocyte differentiation  (IEA,ISO)
chondrocyte differentiation involved in endochondral bone morphogenesis  (IEA,ISO)
chondrocyte proliferation  (IEA,ISO)
embryonic camera-type eye morphogenesis  (IEA,ISO)
embryonic digestive tract morphogenesis  (IEA,ISO)
embryonic digit morphogenesis  (IEA,IMP,ISO)
embryonic pattern specification  (IEA,ISO)
embryonic skeletal joint development  (IEA,ISO)
endochondral bone morphogenesis  (ISO)
epithelial cell morphogenesis  (IEA,ISO)
epithelial cell-cell adhesion  (IEA,ISO)
head morphogenesis  (IEA,ISO)
heart looping  (IEA,ISS)
in utero embryonic development  (IEA,ISO)
intein-mediated protein splicing  (IEA)
liver regeneration  (IEA,ISO)
maternal process involved in female pregnancy  (IEA,ISO)
morphogenesis of a branching structure  (IEA,ISO)
multicellular organism growth  (IEA,ISO)
negative regulation of alpha-beta T cell differentiation  (IEA,ISS)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of chondrocyte differentiation  (IEA,ISO)
negative regulation of eye pigmentation  (IEA,ISO)
negative regulation of immature T cell proliferation in thymus  (IEA,ISS)
negative regulation of T cell differentiation in thymus  (IEA,ISS)
neuron development  (IEA,ISO)
ossification  (IEA,ISO)
osteoblast differentiation  (IEA,ISO)
pancreas development  (IEA,ISO)
pattern specification process  (IEA,ISO)
positive regulation of alpha-beta T cell differentiation  (IEA,ISS)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of collagen biosynthetic process  (IEA,ISO)
positive regulation of epithelial cell proliferation  (IEA,ISO)
positive regulation of mesenchymal cell proliferation  (IEA,ISO)
positive regulation of smoothened signaling pathway  (IDA)
positive regulation of T cell differentiation in thymus  (IEA,ISS)
positive regulation of transcription by RNA polymerase II  (IEA,ISO,ISS)
protein autoprocessing  (IEA)
proteoglycan metabolic process  (IEA,ISO)
proteolysis  (IEA)
regulation of gene expression  (IBA)
regulation of growth  (IEA,ISO)
response to estradiol  (IEA,ISO)
response to mechanical stimulus  (IEA,ISO)
retinal pigment epithelium development  (IEA,ISO)
self proteolysis  (ISS)
skeletal system development  (IEA,IMP,ISO)
smooth muscle tissue development  (IEA,ISO)
smoothened signaling pathway  (IBA,IDA,IEA,ISO,ISS)
somite development  (IEA,ISS)
system development  (IEA)
vasculature development  (IEA,ISO)
vitelline membrane formation  (IEA,ISO)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Hedgehog signaling pathway  (EXP,IEA,ISO,TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal femoral neck morphology  (IAGP)
Autosomal recessive inheritance  (IAGP)
Brachydactyly  (IAGP)
Broad metacarpals  (IAGP)
Broad nail  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Cone-shaped capital femoral epiphysis  (IAGP)
Cone-shaped epiphyses of the phalanges of the hand  (IAGP)
Cone-shaped epiphysis  (IAGP)
Cone-shaped epiphysis of the 1st metacarpal  (IAGP)
Cone-shaped metacarpal epiphyses  (IAGP)
Coxa vara  (IAGP)
Cupped ribs  (IAGP)
Delayed ossification of carpal bones  (IAGP)
Delayed skeletal maturation  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Distal symphalangism of hands  (IAGP)
Dysplasia of the femoral head  (IAGP)
Enlarged humeral head  (IAGP)
Enlargement of the distal femoral epiphysis  (IAGP)
Fibular overgrowth  (IAGP)
Flared iliac wing  (IAGP)
Genu varum  (IAGP)
Hyperlordosis  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypoplastic iliac wing  (IAGP)
Intellectual disability  (IAGP)
Limb undergrowth  (IAGP)
Lumbar hyperlordosis  (IAGP)
Macrocephaly  (IAGP)
Micromelia  (IAGP)
Narrow chest  (IAGP)
Ovoid vertebral bodies  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Radial bowing  (IAGP)
Relative macrocephaly  (IAGP)
Scoliosis  (IAGP)
Short distal phalanx of finger  (IAGP)
Short femoral neck  (IAGP)
Short femur  (IAGP)
Short foot  (IAGP)
Short hallux  (IAGP)
Short humerus  (IAGP)
Short metacarpal  (IAGP)
Short middle phalanx of finger  (IAGP)
Short nail  (IAGP)
Short palm  (IAGP)
Short proximal phalanx of finger  (IAGP)
Short proximal phalanx of thumb  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Short thorax  (IAGP)
Short thumb  (IAGP)
Short tibia  (IAGP)
Single interphalangeal crease of fifth finger  (IAGP)
Skeletal dysplasia  (IAGP)
Small finger  (IAGP)
Small nail  (IAGP)
Talipes equinovarus  (IAGP)
Type A1 brachydactyly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Interactions between Hedgehog proteins and their binding partners come into view. Beachy PA, etal., Genes Dev. 2010 Sep 15;24(18):2001-12.
2. Stromal Indian hedgehog signaling is required for intestinal adenoma formation in mice. Buller NV, etal., Gastroenterology. 2015 Jan;148(1):170-180.e6. doi: 10.1053/j.gastro.2014.10.006. Epub 2014 Oct 13.
3. Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog. Byrnes AM, etal., Eur J Hum Genet. 2009 Sep;17(9):1112-20. doi: 10.1038/ejhg.2009.18. Epub 2009 Mar 11.
4. Ihh enhances differentiation of CFK-2 chondrocytic cells and antagonizes PTHrP-mediated activation of PKA. Deckelbaum RA, etal., J Cell Sci 2002 Jul 15;115(Pt 14):3015-25.
5. Mutation screening in candidate genes in four Chinese brachydactyly families. Dong S, etal., Ann Clin Lab Sci. 2015 Winter;45(1):94-9.
6. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Gao B, etal., Nat Genet. 2001 Aug;28(4):386-8.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Correlation Between Hedgehog (Hh) Protein Family and Brain-Derived Neurotrophic Factor (BDNF) in Autism Spectrum Disorder (ASD). Halepoto DM, etal., J Coll Physicians Surg Pak. 2015 Dec;25(12):882-5. doi: 12.2015/JCPSP.882885.
9. Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. Hellemans J, etal., Am J Hum Genet. 2003 Apr;72(4):1040-6. Epub 2003 Mar 11.
10. Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. Kirkpatrick TJ, etal., J Med Genet. 2003 Jan;40(1):42-4.
11. Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Klopocki E, etal., Am J Hum Genet. 2011 Jan 7;88(1):70-5. doi: 10.1016/j.ajhg.2010.11.006. Epub 2010 Dec 17.
12. A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family. Liu M, etal., J Hum Genet. 2006;51(8):727-31. Epub 2006 Jul 27.
13. Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1. Lodder EM, etal., Am J Med Genet A. 2008 Aug 15;146A(16):2152-4. doi: 10.1002/ajmg.a.32441.
14. A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. McCready ME, etal., Hum Genet. 2002 Oct;111(4-5):368-75. Epub 2002 Sep 7.
15. Frequent deregulations in the hedgehog signaling network and cross-talks with the epidermal growth factor receptor pathway involved in cancer progression and targeted therapies. Mimeault M and Batra SK, Pharmacol Rev. 2010 Sep;62(3):497-524.
16. Genetic contributions to the development of retinopathy of prematurity. Mohamed S, etal., Pediatr Res. 2009 Feb;65(2):193-7. doi: 10.1203/PDR.0b013e31818d1dbd.
17. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
18. Macrophage-derived Hedgehog ligands promotes fibrogenic and angiogenic responses in human schistosomiasis mansoni. Pereira TA, etal., Liver Int. 2013 Jan;33(1):149-61. doi: 10.1111/liv.12016. Epub 2012 Nov 1.
19. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
20. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
21. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
23. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
24. Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene. Stattin EL, etal., Eur J Med Genet. 2009 Sep-Oct;52(5):297-302. doi: 10.1016/j.ejmg.2009.05.008. Epub 2009 May 21.
25. Effect of ageing on healing of bilateral mandibular condyle fractures in a rat model. Tatsumi H, etal., Int J Oral Maxillofac Surg. 2014 Feb;43(2):185-93. doi: 10.1016/j.ijom.2013.07.742. Epub 2013 Aug 28.
26. Indian hedgehog in synovial fluid is a novel marker for early cartilage lesions in human knee joint. Zhang C, etal., Int J Mol Sci. 2014 Apr 28;15(5):7250-65. doi: 10.3390/ijms15057250.
27. FGFR3 Deficiency Causes Multiple Chondroma-like Lesions by Upregulating Hedgehog Signaling. Zhou S, etal., PLoS Genet. 2015 Jun 19;11(6):e1005214. doi: 10.1371/journal.pgen.1005214. eCollection 2015 Jun.
Additional References at PubMed
PMID:7590746   PMID:7720571   PMID:8824192   PMID:9186520   PMID:9811851   PMID:10050855   PMID:10462495   PMID:11435703   PMID:11472839   PMID:11476578   PMID:12176676   PMID:12368206  
PMID:12477932   PMID:12917489   PMID:14520411   PMID:14651602   PMID:14770182   PMID:15105288   PMID:15146555   PMID:15489334   PMID:15839736   PMID:16322088   PMID:16335952   PMID:17360475  
PMID:17387386   PMID:17486609   PMID:17889828   PMID:17962696   PMID:18391951   PMID:18391952   PMID:18698484   PMID:18788453   PMID:18829534   PMID:19074837   PMID:19213939   PMID:19445942  
PMID:19453261   PMID:19856079   PMID:20007344   PMID:20189936   PMID:20400458   PMID:20519495   PMID:20546612   PMID:20683927   PMID:20724312   PMID:20839884   PMID:20846217   PMID:20854074  
PMID:20881264   PMID:20881960   PMID:21537345   PMID:21640343   PMID:21642379   PMID:21873635   PMID:21988832   PMID:22123293   PMID:22234151   PMID:22406540   PMID:22469853   PMID:22486854  
PMID:22507129   PMID:22750747   PMID:22817660   PMID:23303278   PMID:23403897   PMID:23418531   PMID:23468532   PMID:23575478   PMID:23786654   PMID:23883825   PMID:24342078   PMID:24344235  
PMID:24844414   PMID:24991722   PMID:25519748   PMID:25692887   PMID:25888497   PMID:25958162   PMID:26201092   PMID:26649570   PMID:26705100   PMID:26963384   PMID:27694322   PMID:27801732  
PMID:28205343   PMID:28574612   PMID:29088246   PMID:29155992   PMID:29748156   PMID:30651074   PMID:30926792   PMID:31087761   PMID:31820036   PMID:31847127   PMID:32209048   PMID:32235006  
PMID:32311039   PMID:34070546   PMID:34530144   PMID:37256934  


Genomics

Comparative Map Data
IHH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,054,424 - 219,060,921 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,054,424 - 219,060,921 (-)EnsemblGRCh38hg38GRCh38
GRCh372219,919,146 - 219,925,643 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,627,390 - 219,633,433 (-)NCBINCBI36Build 36hg18NCBI36
Celera2213,688,833 - 213,694,930 (-)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,773,140 - 211,779,240 (-)NCBIHuRef
CHM1_12219,926,506 - 219,932,606 (-)NCBICHM1_1
T2T-CHM13v2.02219,542,768 - 219,549,269 (-)NCBIT2T-CHM13v2.0
Ihh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39174,984,474 - 74,990,831 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl174,984,474 - 74,990,831 (-)EnsemblGRCm39 Ensembl
GRCm38174,945,315 - 74,951,672 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl174,945,315 - 74,951,672 (-)EnsemblGRCm38mm10GRCm38
MGSCv37174,991,892 - 74,998,225 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36174,878,525 - 74,884,858 (-)NCBIMGSCv36mm8
Celera175,500,289 - 75,506,631 (-)NCBICelera
Cytogenetic Map1C4NCBI
cM Map138.55NCBI
Ihh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8983,952,986 - 83,959,203 (-)NCBIGRCr8
mRatBN7.2976,504,315 - 76,510,532 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,504,315 - 76,510,532 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx984,948,807 - 84,955,041 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0990,077,709 - 90,083,943 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,463,912 - 88,470,146 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0982,208,223 - 82,214,440 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl982,208,223 - 82,214,440 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0981,977,484 - 81,983,701 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4974,287,115 - 74,293,332 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1974,435,304 - 74,439,783 (-)NCBI
Celera974,074,990 - 74,081,207 (-)NCBICelera
Cytogenetic Map9q33NCBI
Ihh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545314,376,718 - 14,381,747 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545314,376,665 - 14,382,536 (+)NCBIChiLan1.0ChiLan1.0
IHH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213121,685,363 - 121,691,496 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B121,700,328 - 121,706,388 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B106,312,472 - 106,319,124 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B224,905,488 - 224,917,887 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B224,906,271 - 224,911,506 (-)Ensemblpanpan1.1panPan2
IHH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13725,616,942 - 25,622,989 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3726,443,433 - 26,449,482 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03725,632,373 - 25,638,422 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3725,633,157 - 25,638,407 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13725,536,946 - 25,542,995 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03725,472,029 - 25,478,078 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03725,492,880 - 25,498,929 (-)NCBIUU_Cfam_GSD_1.0
Ihh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303175,131,886 - 175,137,781 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365691,474,665 - 1,480,568 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365691,474,693 - 1,480,562 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IHH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15121,083,753 - 121,090,121 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115121,083,750 - 121,090,548 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215134,122,714 - 134,129,084 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IHH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110104,960,296 - 104,966,596 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10104,960,120 - 104,966,585 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604094,431,690 - 94,438,180 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ihh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248235,959,448 - 5,964,769 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248235,959,329 - 5,965,584 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IHH
229 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002181.4(IHH):c.283G>A (p.Glu95Lys) single nucleotide variant Brachydactyly type A1 [RCV000009416]|not provided [RCV003555989] Chr2:219060185 [GRCh38]
Chr2:219924907 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.391G>A (p.Glu131Lys) single nucleotide variant Brachydactyly type A1 [RCV000009417]|not provided [RCV004589502] Chr2:219057619 [GRCh38]
Chr2:219922341 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_002181.4(IHH):c.300C>A (p.Asp100Glu) single nucleotide variant Brachydactyly type A1 [RCV000009418] Chr2:219060168 [GRCh38]
Chr2:219924890 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.298G>A (p.Asp100Asn) single nucleotide variant Brachydactyly type A1 [RCV000009419]|Brachydactyly type A1A [RCV001804721]|not provided [RCV003441711] Chr2:219060170 [GRCh38]
Chr2:219924892 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.137C>T (p.Pro46Leu) single nucleotide variant Acrocapitofemoral dysplasia [RCV000009420] Chr2:219060331 [GRCh38]
Chr2:219925053 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.569T>C (p.Val190Ala) single nucleotide variant Acrocapitofemoral dysplasia [RCV000009421]|not provided [RCV001269632] Chr2:219057441 [GRCh38]
Chr2:219922163 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.284A>G (p.Glu95Gly) single nucleotide variant Brachydactyly type A1 [RCV000009422] Chr2:219060184 [GRCh38]
Chr2:219924906 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.461C>T (p.Thr154Ile) single nucleotide variant Brachydactyly type A1 [RCV000009423] Chr2:219057549 [GRCh38]
Chr2:219922271 [GRCh37]
Chr2:2q35		 pathogenic
IHH, 3-BP DEL, 283GAG deletion Brachydactyly type A1 [RCV000009424] Chr2:2q33-q35 pathogenic
NM_002181.4(IHH):c.383G>A (p.Arg128Gln) single nucleotide variant Brachydactyly type A1 [RCV000009425]|not provided [RCV001851762] Chr2:219057627 [GRCh38]
Chr2:219922349 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|uncertain significance
NM_002181.4(IHH):c.389C>A (p.Thr130Asn) single nucleotide variant Brachydactyly type A1 [RCV000009426] Chr2:219057621 [GRCh38]
Chr2:219922343 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.1128T>C (p.Thr376=) single nucleotide variant Acrocapitofemoral dysplasia [RCV001729695]|not provided [RCV001511291]|not specified [RCV000728239] Chr2:219055315 [GRCh38]
Chr2:219920037 [GRCh37]
Chr2:2q35		 benign
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
NM_002181.4(IHH):c.88C>A (p.Pro30Thr) single nucleotide variant Acrocapitofemoral dysplasia [RCV001332104] Chr2:219060380 [GRCh38]
Chr2:219925102 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
NM_002181.4(IHH):c.857C>T (p.Pro286Leu) single nucleotide variant Brachydactyly type A1 [RCV000261343]|IHH-related disorder [RCV003912410]|not provided [RCV001517720] Chr2:219055586 [GRCh38]
Chr2:219920308 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002181.4(IHH):c.702G>A (p.Glu234=) single nucleotide variant Brachydactyly type A1 [RCV000296742]|not provided [RCV002521395] Chr2:219055741 [GRCh38]
Chr2:219920463 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_002181.4(IHH):c.618C>T (p.Ala206=) single nucleotide variant Brachydactyly type A1 [RCV000344639]|IHH-related disorder [RCV003897614]|not provided [RCV000953447]|not specified [RCV000389029] Chr2:219055825 [GRCh38]
Chr2:219920547 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_002181.4(IHH):c.315+8C>T single nucleotide variant Brachydactyly type A1 [RCV000309515]|IHH-related disorder [RCV003977724]|not provided [RCV000961119]|not specified [RCV000381108] Chr2:219060145 [GRCh38]
Chr2:219924867 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_002181.4(IHH):c.*83A>T single nucleotide variant Brachydactyly type A1 [RCV000272980] Chr2:219055124 [GRCh38]
Chr2:219919846 [GRCh37]
Chr2:2q35		 benign|uncertain significance
NM_002181.4(IHH):c.228G>A (p.Glu76=) single nucleotide variant Brachydactyly type A1 [RCV000397747]|not provided [RCV000934453] Chr2:219060240 [GRCh38]
Chr2:219924962 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_002181.4(IHH):c.799C>A (p.Arg267Ser) single nucleotide variant Brachydactyly type A1 [RCV000375895] Chr2:219055644 [GRCh38]
Chr2:219920366 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.*25G>T single nucleotide variant Brachydactyly type A1 [RCV000302310]|not provided [RCV001594968] Chr2:219055182 [GRCh38]
Chr2:219919904 [GRCh37]
Chr2:2q35		 benign
NM_002181.4(IHH):c.227A>C (p.Glu76Ala) single nucleotide variant Brachydactyly type A1 [RCV000303662] Chr2:219060241 [GRCh38]
Chr2:219924963 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_002181.4(IHH):c.819C>T (p.Pro273=) single nucleotide variant Acrocapitofemoral dysplasia [RCV002480191]|Brachydactyly type A1 [RCV000319004]|not provided [RCV000964722] Chr2:219055624 [GRCh38]
Chr2:219920346 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_002181.4(IHH):c.*13G>A single nucleotide variant Brachydactyly type A1 [RCV000359400] Chr2:219055194 [GRCh38]
Chr2:219919916 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_002181.4(IHH):c.969C>T (p.His323=) single nucleotide variant Brachydactyly type A1 [RCV000324835]|not provided [RCV000967824] Chr2:219055474 [GRCh38]
Chr2:219920196 [GRCh37]
Chr2:2q35		 benign
NM_002181.4(IHH):c.717C>T (p.Thr239=) single nucleotide variant Brachydactyly type A1 [RCV000387644] Chr2:219055726 [GRCh38]
Chr2:219920448 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_002181.4(IHH):c.755A>G (p.His252Arg) single nucleotide variant Brachydactyly type A1 [RCV000293234]|not provided [RCV000967825] Chr2:219055688 [GRCh38]
Chr2:219920410 [GRCh37]
Chr2:2q35		 benign
NM_002181.4(IHH):c.*199G>A single nucleotide variant Brachydactyly type A1 [RCV000308287] Chr2:219055008 [GRCh38]
Chr2:219919730 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.*175C>G single nucleotide variant Brachydactyly type A1 [RCV000365017]|not provided [RCV001636935] Chr2:219055032 [GRCh38]
Chr2:219919754 [GRCh37]
Chr2:2q35		 benign
NM_002181.4(IHH):c.600G>A (p.Thr200=) single nucleotide variant Acrocapitofemoral dysplasia [RCV001729546]|Brachydactyly type A1 [RCV000390636]|not provided [RCV001510359] Chr2:219055843 [GRCh38]
Chr2:219055843..219055844 [GRCh38]
Chr2:219920565 [GRCh37]
Chr2:219920565..219920566 [GRCh37]
Chr2:2q35		 benign
NM_002181.4(IHH):c.229C>A (p.Arg77Ser) single nucleotide variant Brachydactyly type A1 [RCV000348092]|not provided [RCV002521396] Chr2:219060239 [GRCh38]
Chr2:219924961 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_002181.3(IHH):c.*785C>T single nucleotide variant Brachydactyly type A1 [RCV000394011] Chr2:219054422 [GRCh38]
Chr2:219919144 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_002181.4(IHH):c.*248C>A single nucleotide variant Brachydactyly type A1 [RCV000394047] Chr2:219054959 [GRCh38]
Chr2:219919681 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_002181.4(IHH):c.753T>C (p.Pro251=) single nucleotide variant Acrocapitofemoral dysplasia [RCV001729545]|Brachydactyly type A1 [RCV000350549]|not provided [RCV001513545]|not specified [RCV000734562] Chr2:219055690 [GRCh38]
Chr2:219920412 [GRCh37]
Chr2:2q35		 benign
NM_002181.4(IHH):c.873G>A (p.Arg291=) single nucleotide variant Brachydactyly type A1 [RCV000372288]|not provided [RCV000904279]|not specified [RCV000597173] Chr2:219055570 [GRCh38]
Chr2:219920292 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_002181.4(IHH):c.949G>A (p.Val317Met) single nucleotide variant not provided [RCV000278072] Chr2:219055494 [GRCh38]
Chr2:219920216 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_002181.4(IHH):c.1169G>A (p.Arg390His) single nucleotide variant Brachydactyly type A1 [RCV001141951]|not provided [RCV000293197] Chr2:219055274 [GRCh38]
Chr2:219919996 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.1051G>A (p.Val351Met) single nucleotide variant IHH-related disorder [RCV003897655]|not provided [RCV000398677] Chr2:219055392 [GRCh38]
Chr2:219920114 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002181.4(IHH):c.1101T>C (p.Phe367=) single nucleotide variant Brachydactyly type A1 [RCV000267266] Chr2:219055342 [GRCh38]
Chr2:219920064 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.228_229delinsAA (p.Arg77Ser) indel not provided [RCV000367731]|not specified [RCV004586663] Chr2:219060239..219060240 [GRCh38]
Chr2:219924961..219924962 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_002181.4(IHH):c.858G>A (p.Pro286=) single nucleotide variant Brachydactyly type A1 [RCV001143755]|not provided [RCV001511577]|not specified [RCV000367798] Chr2:219055585 [GRCh38]
Chr2:219920307 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_002181.4(IHH):c.-18C>T single nucleotide variant Brachydactyly type A1 [RCV000268250] Chr2:219060485 [GRCh38]
Chr2:219925207 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.829C>T (p.Leu277Phe) single nucleotide variant not provided [RCV001572988] Chr2:219055614 [GRCh38]
Chr2:219920336 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.*623dup duplication Brachydactyly [RCV000314034] Chr2:219054583..219054584 [GRCh38]
Chr2:219919305..219919306 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.518C>A (p.Ala173Asp) single nucleotide variant Acrocapitofemoral dysplasia [RCV003314295] Chr2:219057492 [GRCh38]
Chr2:219922214 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.-58C>T single nucleotide variant Brachydactyly [RCV000358400]|not provided [RCV001561538] Chr2:219060525 [GRCh38]
Chr2:219925247 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.*397G>A single nucleotide variant Brachydactyly type A1 [RCV000352459] Chr2:219054810 [GRCh38]
Chr2:219919532 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.-14C>T single nucleotide variant Brachydactyly type A1 [RCV000360600] Chr2:219060481 [GRCh38]
Chr2:219925203 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.*246G>C single nucleotide variant Brachydactyly type A1 [RCV001139327] Chr2:219054961 [GRCh38]
Chr2:219919683 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.*217G>A single nucleotide variant Brachydactyly type A1 [RCV001139328] Chr2:219054990 [GRCh38]
Chr2:219919712 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.*33G>A single nucleotide variant Brachydactyly type A1 [RCV001139329] Chr2:219055174 [GRCh38]
Chr2:219919896 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3		 likely pathogenic
NM_002181.4(IHH):c.982del (p.Ala328fs) deletion not provided [RCV000734376] Chr2:219055461 [GRCh38]
Chr2:219920183 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.802C>T (p.Arg268Cys) single nucleotide variant not provided [RCV000728720] Chr2:219055641 [GRCh38]
Chr2:219920363 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_002181.4(IHH):c.1194G>C (p.Glu398Asp) single nucleotide variant Inborn genetic diseases [RCV004629313]|not provided [RCV000727894] Chr2:219055249 [GRCh38]
Chr2:219919971 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_002181.4(IHH):c.151C>A (p.Gln51Lys) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000508633] Chr2:219060317 [GRCh38]
Chr2:219925039 [GRCh37]
Chr2:2q35		 likely pathogenic
GRCh37/hg19 2q35(chr2:219275536-220266647)x3 copy number gain See cases [RCV000511655] Chr2:219275536..220266647 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3		 pathogenic
NC_000002.11:g.(?_219135239)_(220290732_?)del deletion Desmin-related myofibrillar myopathy [RCV000707774] Chr2:219135239..220290732 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_002181.4(IHH):c.-81C>A single nucleotide variant not provided [RCV001574627] Chr2:219060548 [GRCh38]
Chr2:219925270 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.271T>C (p.Phe91Leu) single nucleotide variant not provided [RCV001597521] Chr2:219060197 [GRCh38]
Chr2:219924919 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.791A>T (p.Asp264Val) single nucleotide variant not provided [RCV000762321] Chr2:219055652 [GRCh38]
Chr2:219920374 [GRCh37]
Chr2:2q35		 uncertain significance
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
NM_002181.4(IHH):c.836C>T (p.Thr279Met) single nucleotide variant not provided [RCV001573800] Chr2:219055607 [GRCh38]
Chr2:219920329 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla) indel Acrocapitofemoral dysplasia [RCV000985227] Chr2:219060390..219060415 [GRCh38]
Chr2:219925112..219925137 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.666C>T (p.Ala222=) single nucleotide variant not provided [RCV000923056] Chr2:219055777 [GRCh38]
Chr2:219920499 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.657C>T (p.Ala219=) single nucleotide variant not provided [RCV000914299] Chr2:219055786 [GRCh38]
Chr2:219920508 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.1128= (p.Thr376=) variation not provided [RCV000948253] Chr2:219055315 [GRCh38]
Chr2:219920037 [GRCh37]
Chr2:2q35		 benign
NM_002181.4(IHH):c.207C>A (p.Gly69=) single nucleotide variant Brachydactyly type A1 [RCV001140220]|not provided [RCV000914581] Chr2:219060261 [GRCh38]
Chr2:219924983 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_002181.4(IHH):c.577+3G>A single nucleotide variant not provided [RCV000997671] Chr2:219057430 [GRCh38]
Chr2:219922152 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.*368G>A single nucleotide variant Brachydactyly type A1 [RCV001137083] Chr2:219054839 [GRCh38]
Chr2:219919561 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.*300T>C single nucleotide variant Brachydactyly type A1 [RCV001137085] Chr2:219054907 [GRCh38]
Chr2:219919629 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_002181.4(IHH):c.*313C>T single nucleotide variant Brachydactyly type A1 [RCV001137084] Chr2:219054894 [GRCh38]
Chr2:219919616 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.799C>G (p.Arg267Gly) single nucleotide variant Brachydactyly type A1 [RCV001137201]|not provided [RCV002556917] Chr2:219055644 [GRCh38]
Chr2:219920366 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35(chr2:219879593-220346596)x3 copy number gain not provided [RCV000847670] Chr2:219879593..220346596 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.*596G>A single nucleotide variant Brachydactyly type A1 [RCV001137081] Chr2:219054611 [GRCh38]
Chr2:219919333 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.-251C>A single nucleotide variant not provided [RCV001561149] Chr2:219060718 [GRCh38]
Chr2:219925440 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.1221C>T (p.Ser407=) single nucleotide variant Brachydactyly type A1 [RCV001141950]|not provided [RCV000910546] Chr2:219055222 [GRCh38]
Chr2:219919944 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.649C>T (p.Arg217Cys) single nucleotide variant Brachydactyly type A1 [RCV001139444]|not provided [RCV001856791] Chr2:219055794 [GRCh38]
Chr2:219920516 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.588C>T (p.Ala196=) single nucleotide variant Brachydactyly type A1 [RCV001139445] Chr2:219055855 [GRCh38]
Chr2:219920577 [GRCh37]
Chr2:2q35		 benign
NM_002181.4(IHH):c.352G>A (p.Val118Met) single nucleotide variant Acrocapitofemoral dysplasia [RCV000985118] Chr2:219057658 [GRCh38]
Chr2:219922380 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_002181.4(IHH):c.531G>A (p.Trp177Ter) single nucleotide variant not provided [RCV003231803] Chr2:219057479 [GRCh38]
Chr2:219922201 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_002181.4(IHH):c.577+99G>T single nucleotide variant not provided [RCV001656064] Chr2:219057334 [GRCh38]
Chr2:219922056 [GRCh37]
Chr2:2q35		 benign
NM_002181.4(IHH):c.578-235G>A single nucleotide variant not provided [RCV001658735] Chr2:219056100 [GRCh38]
Chr2:219920822 [GRCh37]
Chr2:2q35		 benign
NM_002181.4(IHH):c.849C>T (p.His283=) single nucleotide variant Brachydactyly type A1 [RCV001143756] Chr2:219055594 [GRCh38]
Chr2:219920316 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.*267A>T single nucleotide variant Brachydactyly type A1 [RCV001137086] Chr2:219054940 [GRCh38]
Chr2:219919662 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.567C>T (p.Ser189=) single nucleotide variant Brachydactyly type A1 [RCV001139447] Chr2:219057443 [GRCh38]
Chr2:219922165 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.577+14G>C single nucleotide variant Brachydactyly type A1 [RCV001139446] Chr2:219057419 [GRCh38]
Chr2:219922141 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.291A>C (p.Thr97=) single nucleotide variant Brachydactyly type A1 [RCV001140219] Chr2:219060177 [GRCh38]
Chr2:219924899 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.316-153G>T single nucleotide variant not provided [RCV001694225] Chr2:219057847 [GRCh38]
Chr2:219922569 [GRCh37]
Chr2:2q35		 benign
NM_002181.4(IHH):c.374_387del (p.Val125fs) deletion not provided [RCV001597525] Chr2:219057623..219057636 [GRCh38]
Chr2:219922345..219922358 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_002181.4(IHH):c.704A>C (p.Asp235Ala) single nucleotide variant Inborn genetic diseases [RCV004030574]|not provided [RCV001065181] Chr2:219055739 [GRCh38]
Chr2:219920461 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.704A>T (p.Asp235Val) single nucleotide variant Brachydactyly type A1 [RCV001137202] Chr2:219055739 [GRCh38]
Chr2:219920461 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.693C>G (p.Ala231=) single nucleotide variant Brachydactyly type A1 [RCV001139443] Chr2:219055750 [GRCh38]
Chr2:219920472 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.816A>G (p.Thr272=) single nucleotide variant Brachydactyly type A1 [RCV001143757] Chr2:219055627 [GRCh38]
Chr2:219920349 [GRCh37]
Chr2:2q35		 benign
NM_002181.4(IHH):c.543del (p.Glu181fs) deletion not provided [RCV001092430] Chr2:219057467 [GRCh38]
Chr2:219922189 [GRCh37]
Chr2:2q35		 likely pathogenic
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.1222G>A (p.Gly408Arg) single nucleotide variant Brachydactyly type A1 [RCV001141949]|not provided [RCV001318380] Chr2:219055221 [GRCh38]
Chr2:219919943 [GRCh37]
Chr2:2q35		 benign|uncertain significance
NM_002181.4(IHH):c.1130C>T (p.Pro377Leu) single nucleotide variant Brachydactyly type A1 [RCV001141952]|not provided [RCV002032350] Chr2:219055313 [GRCh38]
Chr2:219920035 [GRCh37]
Chr2:2q35		 benign|uncertain significance
NM_002181.4(IHH):c.369C>T (p.Pro123=) single nucleotide variant Brachydactyly type A1 [RCV001140218] Chr2:219057641 [GRCh38]
Chr2:219922363 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.*423G>A single nucleotide variant Brachydactyly type A1 [RCV001137082]|not provided [RCV004694844] Chr2:219054784 [GRCh38]
Chr2:219919506 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.540C>T (p.Tyr180=) single nucleotide variant Brachydactyly type A1 [RCV001139448]|not provided [RCV002559344] Chr2:219057470 [GRCh38]
Chr2:219922192 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_002181.4(IHH):c.316C>A (p.Arg106Ser) single nucleotide variant Brachydactyly type A1 [RCV001197724] Chr2:219057694 [GRCh38]
Chr2:219922416 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.910G>T (p.Val304Leu) single nucleotide variant Brachydactyly type A1 [RCV001143753]|Inborn genetic diseases [RCV004032730] Chr2:219055533 [GRCh38]
Chr2:219920255 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.909C>T (p.Tyr303=) single nucleotide variant Brachydactyly type A1 [RCV001143754] Chr2:219055534 [GRCh38]
Chr2:219920256 [GRCh37]
Chr2:2q35		 benign
NM_002181.4(IHH):c.478C>A (p.Arg160Ser) single nucleotide variant Brachydactyly type A1 [RCV001257077] Chr2:219057532 [GRCh38]
Chr2:219922254 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_002181.4(IHH):c.565_567dup (p.Ser189dup) duplication Brachydactyly type A1 [RCV001257091] Chr2:219057442..219057443 [GRCh38]
Chr2:219922164..219922165 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_002181.4(IHH):c.448G>A (p.Ala150Thr) single nucleotide variant Brachydactyly type A1 [RCV001257079] Chr2:219057562 [GRCh38]
Chr2:219922284 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_002181.4(IHH):c.484A>G (p.Lys162Glu) single nucleotide variant Brachydactyly type A1 [RCV001257075] Chr2:219057526 [GRCh38]
Chr2:219922248 [GRCh37]
Chr2:2q35		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_002181.4(IHH):c.280GAG[1] (p.Glu95del) microsatellite Brachydactyly type A1 [RCV001257076]|not provided [RCV001573168] Chr2:219060183..219060185 [GRCh38]
Chr2:219924905..219924907 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35		 likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219797684-220088582)x3 copy number gain not provided [RCV001259184] Chr2:219797684..220088582 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.308T>G (p.Met103Arg) single nucleotide variant not provided [RCV001298183] Chr2:219060160 [GRCh38]
Chr2:219924882 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.554A>G (p.His185Arg) single nucleotide variant not provided [RCV001295776] Chr2:219057456 [GRCh38]
Chr2:219922178 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.799C>T (p.Arg267Cys) single nucleotide variant not provided [RCV001337543] Chr2:219055644 [GRCh38]
Chr2:219920366 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.683G>A (p.Arg228His) single nucleotide variant not provided [RCV001316651] Chr2:219055760 [GRCh38]
Chr2:219920482 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.910G>A (p.Val304Met) single nucleotide variant not provided [RCV001313598] Chr2:219055533 [GRCh38]
Chr2:219920255 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.1012C>G (p.Leu338Val) single nucleotide variant not provided [RCV001312874] Chr2:219055431 [GRCh38]
Chr2:219920153 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.143C>T (p.Ala48Val) single nucleotide variant not provided [RCV001371806] Chr2:219060325 [GRCh38]
Chr2:219925047 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.635T>C (p.Leu212Pro) single nucleotide variant not provided [RCV001314707] Chr2:219055808 [GRCh38]
Chr2:219920530 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.631C>T (p.Arg211Cys) single nucleotide variant not provided [RCV001340084] Chr2:219055812 [GRCh38]
Chr2:219920534 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.947G>C (p.Arg316Pro) single nucleotide variant not provided [RCV001305190] Chr2:219055496 [GRCh38]
Chr2:219920218 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.585G>A (p.Ser195=) single nucleotide variant not provided [RCV001412448] Chr2:219055858 [GRCh38]
Chr2:219920580 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.936G>T (p.Leu312=) single nucleotide variant not provided [RCV001493471] Chr2:219055507 [GRCh38]
Chr2:219920229 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.316-226T>C single nucleotide variant not provided [RCV001686317] Chr2:219057920 [GRCh38]
Chr2:219922642 [GRCh37]
Chr2:2q35		 benign
NM_002181.4(IHH):c.987C>T (p.Tyr329=) single nucleotide variant not provided [RCV001461984] Chr2:219055456 [GRCh38]
Chr2:219920178 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.948C>T (p.Arg316=) single nucleotide variant not provided [RCV001479409] Chr2:219055495 [GRCh38]
Chr2:219920217 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.577+81dup duplication not provided [RCV001669847] Chr2:219057351..219057352 [GRCh38]
Chr2:219922073..219922074 [GRCh37]
Chr2:2q35		 benign
NM_002181.4(IHH):c.478C>T (p.Arg160Cys) single nucleotide variant Acrocapitofemoral dysplasia [RCV001582341] Chr2:219057532 [GRCh38]
Chr2:219922254 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_002181.4(IHH):c.1151A>G (p.Tyr384Cys) single nucleotide variant not provided [RCV001763341] Chr2:219055292 [GRCh38]
Chr2:219920014 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.538_539insTGACTGGGTGGCTTTG (p.Tyr180delinsLeuThrGlyTrpLeuTer) insertion not specified [RCV002247902] Chr2:219057471..219057472 [GRCh38]
Chr2:219922193..219922194 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.1021G>A (p.Glu341Lys) single nucleotide variant Acrocapitofemoral dysplasia [RCV002240147] Chr2:219055422 [GRCh38]
Chr2:219920144 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.851C>T (p.Thr284Met) single nucleotide variant Acrocapitofemoral dysplasia [RCV002240148]|Brachydactyly type A1A [RCV003989756] Chr2:219055592 [GRCh38]
Chr2:219920314 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.217C>T (p.Arg73Cys) single nucleotide variant Acrocapitofemoral dysplasia [RCV002254406] Chr2:219060251 [GRCh38]
Chr2:219924973 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.650G>A (p.Arg217His) single nucleotide variant not provided [RCV001763970] Chr2:219055793 [GRCh38]
Chr2:219920515 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.925G>A (p.Val309Met) single nucleotide variant not provided [RCV001770789] Chr2:219055518 [GRCh38]
Chr2:219920240 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.647C>T (p.Ala216Val) single nucleotide variant not provided [RCV001752624] Chr2:219055796 [GRCh38]
Chr2:219920518 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.1091del (p.Leu364fs) deletion not provided [RCV001765543] Chr2:219055352 [GRCh38]
Chr2:219920074 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1		 pathogenic
NM_002181.4(IHH):c.2T>A (p.Met1Lys) single nucleotide variant IHH-related disorder [RCV003911075]|not provided [RCV001871455] Chr2:219060466 [GRCh38]
Chr2:219925188 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.160C>T (p.Pro54Ser) single nucleotide variant not provided [RCV001985018] Chr2:219060308 [GRCh38]
Chr2:219925030 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.809C>T (p.Ala270Val) single nucleotide variant Inborn genetic diseases [RCV003289129]|not provided [RCV001894311] Chr2:219055634 [GRCh38]
Chr2:219920356 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.527_530del (p.Asp176fs) deletion not provided [RCV002005673] Chr2:219057480..219057483 [GRCh38]
Chr2:219922202..219922205 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.872G>A (p.Arg291Gln) single nucleotide variant Inborn genetic diseases [RCV003164041]|not provided [RCV002042116] Chr2:219055571 [GRCh38]
Chr2:219920293 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.11C>A (p.Ala4Asp) single nucleotide variant not provided [RCV002004135] Chr2:219060457 [GRCh38]
Chr2:219925179 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35(chr2:218210665-220141650) copy number gain not specified [RCV002053284] Chr2:218210665..220141650 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.672G>C (p.Arg224Ser) single nucleotide variant Inborn genetic diseases [RCV003365643]|not provided [RCV002022476] Chr2:219055771 [GRCh38]
Chr2:219920493 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_002181.4(IHH):c.946C>T (p.Arg316Cys) single nucleotide variant not provided [RCV001965075] Chr2:219055497 [GRCh38]
Chr2:219920219 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.992C>T (p.Pro331Leu) single nucleotide variant not provided [RCV001959635] Chr2:219055451 [GRCh38]
Chr2:219920173 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.667G>A (p.Val223Met) single nucleotide variant not provided [RCV001963524] Chr2:219055776 [GRCh38]
Chr2:219920498 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.419C>T (p.Ser140Leu) single nucleotide variant not provided [RCV001952812] Chr2:219057591 [GRCh38]
Chr2:219922313 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.316-1G>A single nucleotide variant not provided [RCV001881645] Chr2:219057695 [GRCh38]
Chr2:219922417 [GRCh37]
Chr2:2q35		 likely pathogenic|uncertain significance
NM_002181.4(IHH):c.947G>A (p.Arg316His) single nucleotide variant not provided [RCV001975399] Chr2:219055496 [GRCh38]
Chr2:219920218 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.748G>A (p.Glu250Lys) single nucleotide variant not provided [RCV002014615] Chr2:219055695 [GRCh38]
Chr2:219920417 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.923G>T (p.Gly308Val) single nucleotide variant not provided [RCV001867531] Chr2:219055520 [GRCh38]
Chr2:219920242 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.695T>C (p.Met232Thr) single nucleotide variant not provided [RCV001875112] Chr2:219055748 [GRCh38]
Chr2:219920470 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.77G>A (p.Trp26Ter) single nucleotide variant not provided [RCV001901092] Chr2:219060391 [GRCh38]
Chr2:219925113 [GRCh37]
Chr2:2q35		 pathogenic|uncertain significance
NM_002181.4(IHH):c.172G>T (p.Glu58Ter) single nucleotide variant not provided [RCV001994123] Chr2:219060296 [GRCh38]
Chr2:219925018 [GRCh37]
Chr2:2q35		 pathogenic|uncertain significance
NM_002181.4(IHH):c.724G>A (p.Asp242Asn) single nucleotide variant Inborn genetic diseases [RCV002563611]|not provided [RCV001993022] Chr2:219055719 [GRCh38]
Chr2:219920441 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.301C>G (p.Arg101Gly) single nucleotide variant not provided [RCV002047555] Chr2:219060167 [GRCh38]
Chr2:219924889 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.532G>A (p.Val178Met) single nucleotide variant not provided [RCV001991849] Chr2:219057478 [GRCh38]
Chr2:219922200 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.250A>G (p.Asn84Asp) single nucleotide variant not provided [RCV001901243] Chr2:219060218 [GRCh38]
Chr2:219924940 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.332T>C (p.Leu111Pro) single nucleotide variant not provided [RCV001990988] Chr2:219057678 [GRCh38]
Chr2:219922400 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.1046C>T (p.Ala349Val) single nucleotide variant IHH-related disorder [RCV003395332]|not provided [RCV002018814] Chr2:219055397 [GRCh38]
Chr2:219920119 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.747C>T (p.Arg249=) single nucleotide variant not provided [RCV002033095] Chr2:219055696 [GRCh38]
Chr2:219920418 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_002181.4(IHH):c.1045G>A (p.Ala349Thr) single nucleotide variant Inborn genetic diseases [RCV003375388]|not provided [RCV001905479] Chr2:219055398 [GRCh38]
Chr2:219920120 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.301C>A (p.Arg101Ser) single nucleotide variant not provided [RCV001998613] Chr2:219060167 [GRCh38]
Chr2:219924889 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.58C>G (p.Leu20Val) single nucleotide variant Inborn genetic diseases [RCV002549064]|not provided [RCV002031669] Chr2:219060410 [GRCh38]
Chr2:219925132 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_218999525)_(220435954_?)dup duplication Alacrima, achalasia, and intellectual disability syndrome [RCV001955103]|Paroxysmal nonkinesigenic dyskinesia [RCV001962531] Chr2:218999525..220435954 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.1168C>T (p.Arg390Cys) single nucleotide variant not provided [RCV001935351] Chr2:219055275 [GRCh38]
Chr2:219919997 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.1094G>A (p.Arg365Lys) single nucleotide variant not provided [RCV001975338] Chr2:219055349 [GRCh38]
Chr2:219920071 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.577+20C>T single nucleotide variant not provided [RCV002111748] Chr2:219057413 [GRCh38]
Chr2:219922135 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.675G>T (p.Pro225=) single nucleotide variant not provided [RCV002074877] Chr2:219055768 [GRCh38]
Chr2:219920490 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.351G>T (p.Ser117=) single nucleotide variant not provided [RCV002188476] Chr2:219057659 [GRCh38]
Chr2:219922381 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.603C>T (p.Gly201=) single nucleotide variant not provided [RCV002075392] Chr2:219055840 [GRCh38]
Chr2:219920562 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.858G>C (p.Pro286=) single nucleotide variant not provided [RCV002217312] Chr2:219055585 [GRCh38]
Chr2:219920307 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.577+19G>A single nucleotide variant not provided [RCV002154602] Chr2:219057414 [GRCh38]
Chr2:219922136 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.545_546insTTT (p.Ser182_Lys183insLeu) insertion not provided [RCV002287030] Chr2:219057464..219057465 [GRCh38]
Chr2:219922186..219922187 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.787C>T (p.Gln263Ter) single nucleotide variant Brachydactyly type A1A [RCV003234750] Chr2:219055656 [GRCh38]
Chr2:219920378 [GRCh37]
Chr2:2q35		 likely pathogenic|conflicting interpretations of pathogenicity
NM_002181.4(IHH):c.415dup (p.His139fs) duplication Brachydactyly type A1A [RCV002468719] Chr2:219057594..219057595 [GRCh38]
Chr2:219922316..219922317 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.89C>T (p.Pro30Leu) single nucleotide variant not provided [RCV002308804] Chr2:219060379 [GRCh38]
Chr2:219925101 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.504_548del (p.Leu169_Lys183del) deletion not provided [RCV003015836] Chr2:219057462..219057506 [GRCh38]
Chr2:219922184..219922228 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.128A>G (p.Lys43Arg) single nucleotide variant Inborn genetic diseases [RCV002685124] Chr2:219060340 [GRCh38]
Chr2:219925062 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.815C>A (p.Thr272Lys) single nucleotide variant not provided [RCV003016018] Chr2:219055628 [GRCh38]
Chr2:219920350 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.503G>C (p.Arg168Pro) single nucleotide variant not provided [RCV002991732] Chr2:219057507 [GRCh38]
Chr2:219922229 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.105C>T (p.Gly35=) single nucleotide variant not provided [RCV002755474] Chr2:219060363 [GRCh38]
Chr2:219925085 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.871C>T (p.Arg291Trp) single nucleotide variant not provided [RCV002756468] Chr2:219055572 [GRCh38]
Chr2:219920294 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.780C>T (p.Ile260=) single nucleotide variant not provided [RCV002775614] Chr2:219055663 [GRCh38]
Chr2:219920385 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.692C>T (p.Ala231Val) single nucleotide variant not provided [RCV002730579] Chr2:219055751 [GRCh38]
Chr2:219920473 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.937C>G (p.Gln313Glu) single nucleotide variant Inborn genetic diseases [RCV002907086]|not provided [RCV003777963] Chr2:219055506 [GRCh38]
Chr2:219920228 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.687G>A (p.Val229=) single nucleotide variant not provided [RCV002685509] Chr2:219055756 [GRCh38]
Chr2:219920478 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.281A>G (p.Glu94Gly) single nucleotide variant not provided [RCV003015524] Chr2:219060187 [GRCh38]
Chr2:219924909 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.1127C>T (p.Thr376Ile) single nucleotide variant Inborn genetic diseases [RCV002905530] Chr2:219055316 [GRCh38]
Chr2:219920038 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.933C>A (p.Gly311=) single nucleotide variant not provided [RCV002842090] Chr2:219055510 [GRCh38]
Chr2:219920232 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.862G>T (p.Ala288Ser) single nucleotide variant Inborn genetic diseases [RCV002859040] Chr2:219055581 [GRCh38]
Chr2:219920303 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.577+15G>C single nucleotide variant not provided [RCV002622063] Chr2:219057418 [GRCh38]
Chr2:219922140 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.482A>G (p.Asn161Ser) single nucleotide variant not provided [RCV003053976] Chr2:219057528 [GRCh38]
Chr2:219922250 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.314A>G (p.Gln105Arg) single nucleotide variant not provided [RCV002843937] Chr2:219060154 [GRCh38]
Chr2:219924876 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.1080C>T (p.Ala360=) single nucleotide variant not provided [RCV002736248] Chr2:219055363 [GRCh38]
Chr2:219920085 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.970G>A (p.Val324Met) single nucleotide variant not provided [RCV002975746] Chr2:219055473 [GRCh38]
Chr2:219920195 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.215C>T (p.Ala72Val) single nucleotide variant Inborn genetic diseases [RCV002706792] Chr2:219060253 [GRCh38]
Chr2:219924975 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.1039T>C (p.Cys347Arg) single nucleotide variant not provided [RCV003054481] Chr2:219055404 [GRCh38]
Chr2:219920126 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.1131G>A (p.Pro377=) single nucleotide variant not provided [RCV002975883] Chr2:219055312 [GRCh38]
Chr2:219920034 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.172G>A (p.Glu58Lys) single nucleotide variant not provided [RCV003079038] Chr2:219060296 [GRCh38]
Chr2:219925018 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.820G>A (p.Ala274Thr) single nucleotide variant Inborn genetic diseases [RCV003167735]|not provided [RCV002785473] Chr2:219055623 [GRCh38]
Chr2:219920345 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.577+10C>G single nucleotide variant not provided [RCV002659452] Chr2:219057423 [GRCh38]
Chr2:219922145 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.438T>C (p.Tyr146=) single nucleotide variant not provided [RCV002927065] Chr2:219057572 [GRCh38]
Chr2:219922294 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.619G>A (p.Gly207Arg) single nucleotide variant Inborn genetic diseases [RCV002645051]|not provided [RCV003738301] Chr2:219055824 [GRCh38]
Chr2:219920546 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.599C>T (p.Thr200Met) single nucleotide variant not provided [RCV002626299] Chr2:219055844 [GRCh38]
Chr2:219920566 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.941C>T (p.Pro314Leu) single nucleotide variant Inborn genetic diseases [RCV002641831] Chr2:219055502 [GRCh38]
Chr2:219920224 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.444C>T (p.Gly148=) single nucleotide variant not provided [RCV002643280] Chr2:219057566 [GRCh38]
Chr2:219922288 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.1201T>C (p.Phe401Leu) single nucleotide variant Inborn genetic diseases [RCV002787475] Chr2:219055242 [GRCh38]
Chr2:219919964 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.648G>A (p.Ala216=) single nucleotide variant not provided [RCV002595519] Chr2:219055795 [GRCh38]
Chr2:219920517 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.213C>T (p.Ile71=) single nucleotide variant not provided [RCV002643125] Chr2:219060255 [GRCh38]
Chr2:219924977 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.1139G>A (p.Gly380Asp) single nucleotide variant not provided [RCV002595946] Chr2:219055304 [GRCh38]
Chr2:219920026 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.200A>G (p.Tyr67Cys) single nucleotide variant not provided [RCV002938386] Chr2:219060268 [GRCh38]
Chr2:219924990 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.1158G>C (p.Gln386His) single nucleotide variant Inborn genetic diseases [RCV002989401] Chr2:219055285 [GRCh38]
Chr2:219920007 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.104G>A (p.Gly35Asp) single nucleotide variant not provided [RCV002791965] Chr2:219060364 [GRCh38]
Chr2:219925086 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.472C>T (p.Arg158Cys) single nucleotide variant not provided [RCV002651608] Chr2:219057538 [GRCh38]
Chr2:219922260 [GRCh37]
Chr2:2q35		 pathogenic|conflicting interpretations of pathogenicity
NM_002181.4(IHH):c.134T>G (p.Val45Gly) single nucleotide variant not provided [RCV003091762] Chr2:219060334 [GRCh38]
Chr2:219925056 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.837G>A (p.Thr279=) single nucleotide variant not provided [RCV002648033] Chr2:219055606 [GRCh38]
Chr2:219920328 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.584C>T (p.Ser195Leu) single nucleotide variant not provided [RCV002577955] Chr2:219055859 [GRCh38]
Chr2:219920581 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.519C>G (p.Ala173=) single nucleotide variant not provided [RCV002634550] Chr2:219057491 [GRCh38]
Chr2:219922213 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.1038C>T (p.Ser346=) single nucleotide variant not provided [RCV003066122] Chr2:219055405 [GRCh38]
Chr2:219920127 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.1213G>A (p.Gly405Ser) single nucleotide variant Inborn genetic diseases [RCV003220656] Chr2:219055230 [GRCh38]
Chr2:219919952 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.577+2T>C single nucleotide variant not provided [RCV003133695] Chr2:219057431 [GRCh38]
Chr2:219922153 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_002181.4(IHH):c.1A>G (p.Met1Val) single nucleotide variant Brachydactyly type A1A [RCV003335836] Chr2:219060467 [GRCh38]
Chr2:219925189 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_002181.4(IHH):c.1226C>T (p.Ala409Val) single nucleotide variant Inborn genetic diseases [RCV003364751] Chr2:219055217 [GRCh38]
Chr2:219919939 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.866G>A (p.Arg289His) single nucleotide variant not provided [RCV003873764] Chr2:219055577 [GRCh38]
Chr2:219920299 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_002181.4(IHH):c.37T>C (p.Cys13Arg) single nucleotide variant IHH-related disorder [RCV003420704]|Inborn genetic diseases [RCV004362774]|not provided [RCV003730570] Chr2:219060431 [GRCh38]
Chr2:219925153 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.1081T>C (p.Phe361Leu) single nucleotide variant not provided [RCV003848877] Chr2:219055362 [GRCh38]
Chr2:219920084 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.963T>A (p.Ser321=) single nucleotide variant not provided [RCV003694956] Chr2:219055480 [GRCh38]
Chr2:219920202 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.512T>C (p.Val171Ala) single nucleotide variant not provided [RCV003578799] Chr2:219057498 [GRCh38]
Chr2:219922220 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.24C>T (p.Pro8=) single nucleotide variant not provided [RCV003693651] Chr2:219060444 [GRCh38]
Chr2:219925166 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.459C>A (p.Ile153=) single nucleotide variant not provided [RCV003879252] Chr2:219057551 [GRCh38]
Chr2:219922273 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.931_937dup (p.Gln313fs) duplication not provided [RCV003576811] Chr2:219055505..219055506 [GRCh38]
Chr2:219920227..219920228 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.651T>A (p.Arg217=) single nucleotide variant not provided [RCV003848831] Chr2:219055792 [GRCh38]
Chr2:219920514 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.2T>G (p.Met1Arg) single nucleotide variant not provided [RCV003687839] Chr2:219060466 [GRCh38]
Chr2:219925188 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.408C>T (p.Asp136=) single nucleotide variant not provided [RCV003663515] Chr2:219057602 [GRCh38]
Chr2:219922324 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.434del (p.His145fs) deletion not provided [RCV003544475] Chr2:219057576 [GRCh38]
Chr2:219922298 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV003696036] Chr2:219060466 [GRCh38]
Chr2:219925188 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.1118G>A (p.Gly373Asp) single nucleotide variant not provided [RCV003881904] Chr2:219055325 [GRCh38]
Chr2:219920047 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.604G>T (p.Gly202Cys) single nucleotide variant not provided [RCV003543988] Chr2:219055839 [GRCh38]
Chr2:219920561 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.714dup (p.Thr239fs) duplication not provided [RCV003549282] Chr2:219055728..219055729 [GRCh38]
Chr2:219920450..219920451 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.20G>A (p.Arg7Gln) single nucleotide variant not provided [RCV003580878] Chr2:219060448 [GRCh38]
Chr2:219925170 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.382C>T (p.Arg128Trp) single nucleotide variant Brachydactyly [RCV003994612] Chr2:219057628 [GRCh38]
Chr2:219922350 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.643G>A (p.Gly215Arg) single nucleotide variant not provided [RCV003559433] Chr2:219055800 [GRCh38]
Chr2:219920522 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.542_556del (p.Glu181_His185del) deletion not provided [RCV003580341] Chr2:219057454..219057468 [GRCh38]
Chr2:219922176..219922190 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.915G>T (p.Leu305=) single nucleotide variant not provided [RCV003550111] Chr2:219055528 [GRCh38]
Chr2:219920250 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.1098C>G (p.Leu366=) single nucleotide variant not provided [RCV003843527] Chr2:219055345 [GRCh38]
Chr2:219920067 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.496C>A (p.Leu166Met) single nucleotide variant not provided [RCV003677173] Chr2:219057514 [GRCh38]
Chr2:219922236 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.632G>A (p.Arg211His) single nucleotide variant not provided [RCV003552818] Chr2:219055811 [GRCh38]
Chr2:219920533 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.766G>A (p.Ala256Thr) single nucleotide variant not provided [RCV003848162] Chr2:219055677 [GRCh38]
Chr2:219920399 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.399G>A (p.Trp133Ter) single nucleotide variant not provided [RCV003711774] Chr2:219057611 [GRCh38]
Chr2:219922333 [GRCh37]
Chr2:2q35		 pathogenic
NM_002181.4(IHH):c.84C>T (p.Cys28=) single nucleotide variant not provided [RCV003848182] Chr2:219060384 [GRCh38]
Chr2:219925106 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.876C>T (p.Ala292=) single nucleotide variant not provided [RCV003722120] Chr2:219055567 [GRCh38]
Chr2:219920289 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.877A>G (p.Thr293Ala) single nucleotide variant not provided [RCV003557153] Chr2:219055566 [GRCh38]
Chr2:219920288 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.803G>A (p.Arg268His) single nucleotide variant not provided [RCV003722914] Chr2:219055640 [GRCh38]
Chr2:219920362 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.164A>G (p.Asn55Ser) single nucleotide variant not provided [RCV003866656] Chr2:219060304 [GRCh38]
Chr2:219925026 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.315+17C>G single nucleotide variant not provided [RCV003862253] Chr2:219060136 [GRCh38]
Chr2:219924858 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.315+17C>T single nucleotide variant not provided [RCV003843159] Chr2:219060136 [GRCh38]
Chr2:219924858 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.1217T>A (p.Met406Lys) single nucleotide variant not provided [RCV003542932] Chr2:219055226 [GRCh38]
Chr2:219919948 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.540C>G (p.Tyr180Ter) single nucleotide variant not provided [RCV003562551] Chr2:219057470 [GRCh38]
Chr2:219922192 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_002181.4(IHH):c.916G>T (p.Val306Leu) single nucleotide variant IHH-related disorder [RCV003956826] Chr2:219055527 [GRCh38]
Chr2:219920249 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.25C>A (p.Arg9=) single nucleotide variant IHH-related disorder [RCV003976695] Chr2:219060443 [GRCh38]
Chr2:219925165 [GRCh37]
Chr2:2q35		 likely benign
NM_002181.4(IHH):c.1177C>G (p.Arg393Gly) single nucleotide variant Inborn genetic diseases [RCV004402856] Chr2:219055266 [GRCh38]
Chr2:219919988 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_219919929)_(219942948_?)del deletion not provided [RCV004583772] Chr2:219919929..219942948 [GRCh37]
Chr2:2q35		 pathogenic
NC_000002.11:g.(?_219646906)_(219942948_?)dup duplication not provided [RCV004583773] Chr2:219646906..219942948 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.697G>C (p.Gly233Arg) single nucleotide variant Inborn genetic diseases [RCV004627894] Chr2:219055746 [GRCh38]
Chr2:219920468 [GRCh37]
Chr2:2q35		 uncertain significance
NM_002181.4(IHH):c.602G>A (p.Gly201Asp) single nucleotide variant Inborn genetic diseases [RCV004627895] Chr2:219055841 [GRCh38]
Chr2:219920563 [GRCh37]
Chr2:2q35		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:544
Count of miRNA genes:381
Interacting mature miRNAs:440
Transcripts:ENST00000295731
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2293458PRSTS291_HProstate tumor susceptibility QTL 291 (human)0.012Prostate tumor susceptibility2200715236226715236Human
407059154GWAS708130_Hcranial vault morphology measurement QTL GWAS708130 (human)0.000002cranial vault morphology measurementskull volume (CMO:0000184)2219055843219055844Human
406920498GWAS569474_Hbody height QTL GWAS569474 (human)2e-10body height (VT:0001253)body height (CMO:0000106)2219055221219055222Human
1643053BW117_HBody Weight QTL 117 (human)2.40.00044Body weight2200715236226715236Human
407030375GWAS679351_HBMI-adjusted waist circumference QTL GWAS679351 (human)0.0000004BMI-adjusted waist circumference2219056478219056479Human
2289332BW376_HBody weight QTL 376 (human)1.870.00168Body fat amountabdominal2213765566239765566Human
406935686GWAS584662_Hsleep apnea measurement QTL GWAS584662 (human)0.000004sleep apnea measurement2219055315219055316Human
407208061GWAS857037_Hbody height QTL GWAS857037 (human)9e-10body height (VT:0001253)body height (CMO:0000106)2219060239219060240Human
406928970GWAS577946_Hbody height QTL GWAS577946 (human)2e-14body height (VT:0001253)body height (CMO:0000106)2219055182219055183Human
407244557GWAS893533_Hbody mass index, vital capacity QTL GWAS893533 (human)3e-12body mass index, vital capacitybody mass index (BMI) (CMO:0000105)2219058113219058114Human
1643254BW125_HBody Weight QTL 125 (human)1.450.005Body weightbody mass index2200715236226715236Human
407284649GWAS933625_Hbody height QTL GWAS933625 (human)9e-14body height (VT:0001253)body height (CMO:0000106)2219055182219055183Human

Markers in Region
GDB:511564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,919,769 - 219,919,995UniSTSGRCh37
Build 362219,628,013 - 219,628,239RGDNCBI36
Celera2213,689,460 - 213,689,686RGD
Cytogenetic Map2q33-q35UniSTS
HuRef2211,773,767 - 211,773,993UniSTS
IHH_7807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,919,783 - 219,920,439UniSTSGRCh37
Build 362219,628,027 - 219,628,683RGDNCBI36
Celera2213,689,474 - 213,690,130RGD
HuRef2211,773,781 - 211,774,437UniSTS
SGC35345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,919,675 - 219,919,891UniSTSGRCh37
Build 362219,627,919 - 219,628,135RGDNCBI36
Celera2213,689,366 - 213,689,582RGD
Cytogenetic Map2q33-q35UniSTS
HuRef2211,773,673 - 211,773,889UniSTS
TNG Radiation Hybrid Map2121607.0UniSTS
GeneMap99-GB4 RH Map2680.95UniSTS
Whitehead-RH Map21009.4UniSTS
RH78911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,919,729 - 219,919,891UniSTSGRCh37
Build 362219,627,973 - 219,628,135RGDNCBI36
Celera2213,689,420 - 213,689,582RGD
Cytogenetic Map2q33-q35UniSTS
HuRef2211,773,727 - 211,773,889UniSTS


Sequence


Ensembl Acc Id: ENST00000295731   ⟹   ENSP00000295731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,054,424 - 219,060,921 (-)Ensembl
RefSeq Acc Id: NM_002181   ⟹   NP_002172
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,054,424 - 219,060,921 (-)NCBI
GRCh372219,919,142 - 219,925,238 (-)ENTREZGENE
Build 362219,627,390 - 219,633,433 (-)NCBI Archive
HuRef2211,773,140 - 211,779,240 (-)ENTREZGENE
CHM1_12219,926,506 - 219,932,606 (-)NCBI
T2T-CHM13v2.02219,542,768 - 219,549,269 (-)NCBI
Sequence:
RefSeq Acc Id: NP_002172   ⟸   NM_002181
- Peptide Label: preproprotein
- UniProtKB: O43322 (UniProtKB/Swiss-Prot),   B9EGM5 (UniProtKB/Swiss-Prot),   Q8N4B9 (UniProtKB/Swiss-Prot),   Q14623 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000295731   ⟸   ENST00000295731
Protein Domains
Hint

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14623-F1-model_v2 AlphaFold Q14623 1-411 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5956 AgrOrtholog
COSMIC IHH COSMIC
Ensembl Genes ENSG00000163501 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000295731 ENTREZGENE
  ENST00000295731.7 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.1380.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hedgehog/Intein (Hint) domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163501 GTEx
HGNC ID HGNC:5956 ENTREZGENE
Human Proteome Map IHH Human Proteome Map
InterPro Hedgehog UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hedgehog_Hint UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hedgehog_sig/DD-Pept_Zn-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hedgehog_Signaling UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hedgehog_signalling_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hint_dom_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hint_dom_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hint_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Intein_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3549 UniProtKB/Swiss-Prot
NCBI Gene 3549 ENTREZGENE
OMIM 600726 OMIM
PANTHER HEDGEHOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11889:SF39 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HH_signal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hint UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29769 PharmGKB
PIRSF Peptidase_C46 UniProtKB/Swiss-Prot
PRINTS SONICHHOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE INTEIN_N_TER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HintC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HintN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51294 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55166 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B9EGM5 ENTREZGENE
  IHH_HUMAN UniProtKB/Swiss-Prot
  O43322 ENTREZGENE
  Q14623 ENTREZGENE
  Q4ZFW8_HUMAN UniProtKB/TrEMBL
  Q8N4B9 ENTREZGENE
UniProt Secondary B9EGM5 UniProtKB/Swiss-Prot
  O43322 UniProtKB/Swiss-Prot
  Q8N4B9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-11-29 IHH  Indian hedgehog signaling molecule  IHH  indian hedgehog  Symbol and/or name change 5135510 APPROVED
2013-02-20 IHH  indian hedgehog  IHH  Indian hedgehog  Symbol and/or name change 5135510 APPROVED
2011-07-27 IHH  Indian hedgehog  IHH  Indian hedgehog homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED