PHYH (phytanoyl-CoA 2-hydroxylase) - Rat Genome Database

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Gene: PHYH (phytanoyl-CoA 2-hydroxylase) Homo sapiens
Analyze
Symbol: PHYH
Name: phytanoyl-CoA 2-hydroxylase
RGD ID: 731796
HGNC Page HGNC:8940
Description: Enables L-ascorbic acid binding activity; ferrous iron binding activity; and phytanoyl-CoA dioxygenase activity. Involved in carboxylic acid metabolic process and isoprenoid metabolic process. Located in 9+0 non-motile cilium and peroxisome. Implicated in Refsum disease; Zellweger syndrome; orofacial cleft; and peroxisomal disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: LN1; LNAP1; PAHX; PHYH1; phytanic acid oxidase; phytanoil-CoA alpha hydroxylase; phytanoyl-CoA 2 oxoglutarate dioxygenase; phytanoyl-CoA alpha-hydroxylase; phytanoyl-CoA dioxygenase, peroxisomal; phytanoyl-coa hydroxylase (refsum disease); RD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
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
GRCh381013,277,799 - 13,300,064 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1013,277,796 - 13,302,412 (-)EnsemblGRCh38hg38GRCh38
GRCh371013,319,799 - 13,342,064 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361013,359,802 - 13,382,136 (-)NCBINCBI36Build 36hg18NCBI36
Build 341013,359,805 - 13,382,107NCBI
Celera1013,246,935 - 13,269,237 (-)NCBICelera
Cytogenetic Map10p13NCBI
HuRef1013,232,668 - 13,254,996 (-)NCBIHuRef
CHM1_11013,319,709 - 13,342,691 (-)NCBICHM1_1
T2T-CHM13v2.01013,290,862 - 13,313,116 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-acetamidofluorene  (ISO)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
amitriptyline  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzbromarone  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
chlorpromazine  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clarithromycin  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
clomipramine  (EXP)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenamidone  (ISO)
folic acid  (ISO)
indometacin  (ISO)
ivermectin  (EXP)
L-ethionine  (ISO)
methapyrilene  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
Muraglitazar  (ISO)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (ISO)
nitrates  (ISO)
nitrofen  (ISO)
ofloxacin  (EXP)
omeprazole  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
progesterone  (ISO)
Propiverine  (ISO)
resveratrol  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sertraline  (EXP)
sodium arsenite  (EXP,ISO)
sotalol  (EXP)
sulfamethoxazole  (EXP)
sulforaphane  (ISO)
tauroursodeoxycholic acid  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thioridazine  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal epiphysis morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal renal physiology  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of vision  (IAGP)
Anosmia  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cardiomegaly  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Congestive heart failure  (IAGP)
Developmental regression  (IAGP)
Dry skin  (IAGP)
Elevated circulating phytanic acid concentration  (IAGP)
Hammertoe  (IAGP)
Heart block  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Increased CSF protein concentration  (IAGP)
Intellectual disability, severe  (IAGP)
Limb muscle weakness  (IAGP)
Microphthalmia  (IAGP)
Miosis  (IAGP)
Multiple epiphyseal dysplasia  (IAGP)
Nail dysplasia  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Peripheral neuropathy  (IAGP)
Pes cavus  (IAGP)
Progressive visual loss  (IAGP)
Ptosis  (IAGP)
Reduced phytanic acid oxidase activity in cultured fibroblasts  (IAGP)
Renal insufficiency  (IAGP)
Respiratory insufficiency  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Retinopathy  (IAGP)
Rod-cone dystrophy  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short fourth metatarsal  (IAGP)
Short metacarpal  (IAGP)
Skeletal dysplasia  (IAGP)
Skeletal muscle atrophy  (IAGP)
Somatic sensory dysfunction  (IAGP)
Splenomegaly  (IAGP)
Visual impairment  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate. Aylward A, etal., Genet Epidemiol. 2016 Jul;40(5):432-41. doi: 10.1002/gepi.21972. Epub 2016 May 27.
2. Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. Ferdinandusse S, etal., Proc Natl Acad Sci U S A. 2008 Nov 18;105(46):17712-7. doi: 10.1073/pnas.0806066105. Epub 2008 Nov 11.
3. Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease? Foulon V, etal., J Lipid Res 2003 Dec;44(12):2349-55. Epub 2003 Aug 16.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. Jansen GA, etal., Adv Exp Med Biol. 1999;466:371-6.
6. Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans. Jansen GA, etal., Biochem Biophys Res Commun. 1996 Dec 4;229(1):205-10. doi: 10.1006/bbrc.1996.1781.
7. Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. Jansen GA, etal., J Inherit Metab Dis. 1997 Jul;20(3):444-6.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Isobaric tags for relative and absolute quantitation (iTRAQ)-based proteomics for the investigation of the effect of Hugan Qingzhi on non-alcoholic fatty liver disease in rats. Yao X, etal., J Ethnopharmacol. 2018 Feb 15;212:208-215. doi: 10.1016/j.jep.2017.09.016. Epub 2017 Oct 13.
Additional References at PubMed
PMID:2433405   PMID:9221344   PMID:9326939   PMID:9326940   PMID:9565335   PMID:10051602   PMID:10588950   PMID:10686344   PMID:10744784   PMID:10767344   PMID:10866807   PMID:11549466  
PMID:11555634   PMID:11574539   PMID:12477932   PMID:12767919   PMID:14974078   PMID:15489334   PMID:15930519   PMID:16169070   PMID:16186124   PMID:16189514   PMID:16385451   PMID:16756494  
PMID:17353931   PMID:18612766   PMID:19299420   PMID:19322201   PMID:19834535   PMID:20301317   PMID:20301527   PMID:20877624   PMID:21832049   PMID:21873635   PMID:23284306   PMID:25416956  
PMID:25910212   PMID:28514442   PMID:28681609   PMID:29257953   PMID:29568061   PMID:31515488   PMID:32296183   PMID:32814053   PMID:33468235   PMID:33660365   PMID:33961781   PMID:34079125  
PMID:35831314   PMID:38411969  


Genomics

Comparative Map Data
PHYH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381013,277,799 - 13,300,064 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1013,277,796 - 13,302,412 (-)EnsemblGRCh38hg38GRCh38
GRCh371013,319,799 - 13,342,064 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361013,359,802 - 13,382,136 (-)NCBINCBI36Build 36hg18NCBI36
Build 341013,359,805 - 13,382,107NCBI
Celera1013,246,935 - 13,269,237 (-)NCBICelera
Cytogenetic Map10p13NCBI
HuRef1013,232,668 - 13,254,996 (-)NCBIHuRef
CHM1_11013,319,709 - 13,342,691 (-)NCBICHM1_1
T2T-CHM13v2.01013,290,862 - 13,313,116 (-)NCBIT2T-CHM13v2.0
Phyh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3924,923,807 - 4,943,554 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl24,923,830 - 4,943,541 (+)EnsemblGRCm39 Ensembl
GRCm3824,918,996 - 4,938,743 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl24,919,019 - 4,938,730 (+)EnsemblGRCm38mm10GRCm38
MGSCv3724,840,042 - 4,859,789 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3624,836,303 - 4,855,996 (+)NCBIMGSCv36mm8
Celera24,874,084 - 4,893,837 (+)NCBICelera
Cytogenetic Map2A1NCBI
cM Map23.06NCBI
Phyh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81778,238,747 - 78,255,645 (-)NCBIGRCr8
mRatBN7.21773,329,461 - 73,346,359 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1773,329,082 - 73,346,409 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1776,834,020 - 76,851,123 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01780,658,833 - 80,675,645 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01774,709,804 - 74,727,044 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01777,287,580 - 77,304,482 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1777,287,188 - 77,304,530 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01778,953,400 - 78,970,299 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41784,418,173 - 84,435,073 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11784,429,005 - 84,445,906 (-)NCBI
Celera1772,770,062 - 72,786,946 (-)NCBICelera
Cytogenetic Map17q12.3NCBI
Phyh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554621,238,622 - 1,250,736 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554621,238,622 - 1,250,731 (-)NCBIChiLan1.0ChiLan1.0
PHYH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2825,798,371 - 25,822,011 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11025,803,696 - 25,826,001 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01013,277,804 - 13,300,115 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11013,250,722 - 13,634,152 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1013,251,223 - 13,636,018 (-)Ensemblpanpan1.1panPan2
LOC478000
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1223,185,901 - 23,206,719 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl223,185,782 - 23,253,497 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha220,243,502 - 20,263,391 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0223,491,323 - 23,512,130 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl223,491,168 - 23,619,903 (+)EnsemblROS_Cfam_1.0 Ensembl
UNSW_CanFamBas_1.0221,525,646 - 21,546,459 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0222,153,837 - 22,174,674 (+)NCBIUU_Cfam_GSD_1.0
PHYH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1048,404,293 - 48,423,973 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11048,404,298 - 48,423,978 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PHYH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1913,309,059 - 13,331,606 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl913,308,951 - 13,331,504 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605118,841,615 - 18,862,691 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Phyh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248055,801,392 - 5,813,696 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PHYH
470 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) single nucleotide variant Inborn genetic diseases [RCV002426496]|Phytanic acid storage disease [RCV000665657]|REFSUM DISEASE, ADULT, 1 [RCV000008018]|Retinitis pigmentosa [RCV000505105]|not provided [RCV000255609] Chr10:13283695 [GRCh38]
Chr10:13325695 [GRCh37]
Chr10:10p13		 pathogenic|likely pathogenic
NM_006214.4(PHYH):c.135-2A>G single nucleotide variant PHYH-related disorder [RCV003407301]|Phytanic acid storage disease [RCV000660487]|REFSUM DISEASE, ADULT, 1 [RCV000008019]|Retinal dystrophy [RCV004814858]|Retinitis pigmentosa [RCV001723551]|not provided [RCV000599568] Chr10:13295608 [GRCh38]
Chr10:13337608 [GRCh37]
Chr10:10p13		 pathogenic|likely pathogenic
NM_006214.4(PHYH):c.164del (p.Leu55fs) deletion REFSUM DISEASE, ADULT, 1 [RCV000008021] Chr10:13295577 [GRCh38]
Chr10:13337577 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.805A>C (p.Asn269His) single nucleotide variant REFSUM DISEASE, ADULT, 1 [RCV000008022] Chr10:13283713 [GRCh38]
Chr10:13325713 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.574_576dup (p.Ala192_Trp193insAla) duplication REFSUM DISEASE, ADULT, 1 [RCV000008023]|not provided [RCV002512886] Chr10:13288461..13288462 [GRCh38]
Chr10:13330461..13330462 [GRCh37]
Chr10:10p13		 pathogenic|uncertain significance
NM_006214.4(PHYH):c.526C>A (p.Gln176Lys) single nucleotide variant REFSUM DISEASE, ADULT, 1 [RCV000008024] Chr10:13288512 [GRCh38]
Chr10:13330512 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.610G>A (p.Gly204Ser) single nucleotide variant Phytanic acid storage disease [RCV003473055]|REFSUM DISEASE, ADULT, 1 [RCV000008025] Chr10:13288428 [GRCh38]
Chr10:13330428 [GRCh37]
Chr10:10p13		 pathogenic|likely pathogenic
NM_006214.4(PHYH):c.824G>A (p.Arg275Gln) single nucleotide variant Phytanic acid storage disease [RCV003473056]|REFSUM DISEASE, ADULT, 1 [RCV000008026]|not provided [RCV001851728] Chr10:13283694 [GRCh38]
Chr10:13325694 [GRCh37]
Chr10:10p13		 pathogenic|likely pathogenic
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) single nucleotide variant Phytanic acid storage disease [RCV000306854]|not provided [RCV000008020]|not specified [RCV000117911] Chr10:13298236 [GRCh38]
Chr10:13340236 [GRCh37]
Chr10:10p13		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|See cases [RCV000052496] Chr10:90421..15569528 [GRCh38]
Chr10:224406..15611527 [GRCh37]
Chr10:126361..15651533 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1 copy number loss See cases [RCV000052500] Chr10:4802753..16823491 [GRCh38]
Chr10:4844945..16865490 [GRCh37]
Chr10:4834945..16905496 [NCBI36]
Chr10:10p15.1-13		 pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3 copy number gain See cases [RCV000053507] Chr10:69261..19184047 [GRCh38]
Chr10:224406..19472976 [GRCh37]
Chr10:105201..19512982 [NCBI36]
Chr10:10p15.3-12.31		 pathogenic
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3 copy number gain See cases [RCV000053508] Chr10:90221..22567425 [GRCh38]
Chr10:224406..22856354 [GRCh37]
Chr10:126161..22896360 [NCBI36]
Chr10:10p15.3-12.2		 pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] Chr10:90421..29058318 [GRCh38]
Chr10:224406..29347247 [GRCh37]
Chr10:126361..29387253 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
NM_006214.4(PHYH):c.636A>G (p.Thr212=) single nucleotide variant Phytanic acid storage disease [RCV000307499]|not provided [RCV000676011]|not specified [RCV000081366] Chr10:13288402 [GRCh38]
Chr10:13330402 [GRCh37]
Chr10:10p13		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006214.4(PHYH):c.153C>T (p.Asn51=) single nucleotide variant Phytanic acid storage disease [RCV000294027]|not provided [RCV000676012]|not specified [RCV000117910] Chr10:13295588 [GRCh38]
Chr10:13337588 [GRCh37]
Chr10:10p13		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006214.4(PHYH):c.135G>A (p.Gln45=) single nucleotide variant Inborn genetic diseases [RCV004952833]|not provided [RCV001367924] Chr10:13295606 [GRCh38]
Chr10:13337606 [GRCh37]
Chr10:10p13		 likely benign|uncertain significance
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) single nucleotide variant Nonsyndromic cleft lip palate [RCV000755125]|Phytanic acid storage disease [RCV000665931]|Retinal dystrophy [RCV004816303]|Vitamin D-dependent rickets type II with alopecia [RCV001258288]|not provided [RCV000950185]|not specified [RCV000179914] Chr10:13283784 [GRCh38]
Chr10:13325784 [GRCh37]
Chr10:10p13		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_006214.4(PHYH):c.766_767del (p.Val256fs) deletion Phytanic acid storage disease [RCV000190614] Chr10:13283751..13283752 [GRCh38]
Chr10:13325751..13325752 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.415-11dup duplication not provided [RCV001522797]|not specified [RCV000178914] Chr10:13291922..13291923 [GRCh38]
Chr10:13333923 [GRCh37]
Chr10:10p13		 benign|likely benign
GRCh38/hg38 10p13(chr10:12333253-13948472)x1 copy number loss See cases [RCV000134396] Chr10:12333253..13948472 [GRCh38]
Chr10:12375252..13990472 [GRCh37]
Chr10:12415258..14030478 [NCBI36]
Chr10:10p13		 likely pathogenic
GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1 copy number loss See cases [RCV000137307] Chr10:7428770..21587752 [GRCh38]
Chr10:7470732..21876681 [GRCh37]
Chr10:7510738..21916687 [NCBI36]
Chr10:10p14-12.31		 pathogenic|uncertain significance
GRCh38/hg38 10p15.3-13(chr10:70478-15373336)x3 copy number gain See cases [RCV000137384] Chr10:70478..15373336 [GRCh38]
Chr10:224406..15415335 [GRCh37]
Chr10:106418..15455341 [NCBI36]
Chr10:10p15.3-13		 uncertain significance
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 copy number gain See cases [RCV000138428] Chr10:90205..26339978 [GRCh38]
Chr10:224406..26628907 [GRCh37]
Chr10:126145..26668913 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1 copy number loss See cases [RCV000138960] Chr10:70478..13736564 [GRCh38]
Chr10:224406..13778564 [GRCh37]
Chr10:106418..13818570 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22		 benign
GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1 copy number loss See cases [RCV000143703] Chr10:54086..19336980 [GRCh38]
Chr10:100026..19625909 [GRCh37]
Chr10:90026..19665915 [NCBI36]
Chr10:10p15.3-12.31		 pathogenic|likely pathogenic
NM_006214.4(PHYH):c.717C>T (p.Tyr239=) single nucleotide variant Phytanic acid storage disease [RCV000625408]|not provided [RCV000676010]|not specified [RCV000153695] Chr10:13283801 [GRCh38]
Chr10:13325801 [GRCh37]
Chr10:10p13		 benign|likely benign
NM_006214.4(PHYH):c.678+5G>T single nucleotide variant PHYH-related disorder [RCV003927682]|Phytanic acid storage disease [RCV000673770]|Retinal dystrophy [RCV001075452]|Retinitis pigmentosa [RCV000504947]|not provided [RCV000179461] Chr10:13288355 [GRCh38]
Chr10:13330355 [GRCh37]
Chr10:10p13		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly) single nucleotide variant Phytanic acid storage disease [RCV000267540]|not provided [RCV000487565] Chr10:13288437 [GRCh38]
Chr10:13330437 [GRCh37]
Chr10:10p13		 conflicting interpretations of pathogenicity|uncertain significance
NM_006214.4(PHYH):c.93A>C (p.Ser31=) single nucleotide variant Phytanic acid storage disease [RCV000394354] Chr10:13298228 [GRCh38]
Chr10:13340228 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.643G>A (p.Gly215Ser) single nucleotide variant Phytanic acid storage disease [RCV000268787]|not provided [RCV000886087]|not specified [RCV001700041] Chr10:13288395 [GRCh38]
Chr10:13330395 [GRCh37]
Chr10:10p13		 benign|uncertain significance
NM_006214.4(PHYH):c.76-9A>T single nucleotide variant PHYH-related disorder [RCV003967857]|Phytanic acid storage disease [RCV000345853]|not provided [RCV001434964] Chr10:13298254 [GRCh38]
Chr10:13340254 [GRCh37]
Chr10:10p13		 likely benign|uncertain significance
NM_006214.4(PHYH):c.126A>G (p.Gln42=) single nucleotide variant PHYH-related disorder [RCV003920227]|Phytanic acid storage disease [RCV000346566]|not provided [RCV000960586] Chr10:13298195 [GRCh38]
Chr10:13340195 [GRCh37]
Chr10:10p13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006214.4(PHYH):c.829-3C>A single nucleotide variant Phytanic acid storage disease [RCV000348581]|not provided [RCV000994354] Chr10:13281113 [GRCh38]
Chr10:13323113 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.321G>T (p.Ser107=) single nucleotide variant Phytanic acid storage disease [RCV000373480]|not provided [RCV003765759] Chr10:13294521 [GRCh38]
Chr10:13336521 [GRCh37]
Chr10:10p13		 likely benign|uncertain significance
NM_006214.4(PHYH):c.792C>T (p.His264=) single nucleotide variant PHYH-related disorder [RCV003977863]|Phytanic acid storage disease [RCV000399862]|not provided [RCV000913767] Chr10:13283726 [GRCh38]
Chr10:13325726 [GRCh37]
Chr10:10p13		 likely benign|uncertain significance
NM_006214.4(PHYH):c.*65G>A single nucleotide variant Phytanic acid storage disease [RCV000375474]|not provided [RCV001642923] Chr10:13278236 [GRCh38]
Chr10:13320236 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.574G>A (p.Ala192Thr) single nucleotide variant Inborn genetic diseases [RCV003243060]|Phytanic acid storage disease [RCV000377458]|not provided [RCV000483319] Chr10:13288464 [GRCh38]
Chr10:13330464 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.1009A>G (p.Asn337Asp) single nucleotide variant Phytanic acid storage disease [RCV000401804]|not provided [RCV000591045] Chr10:13278309 [GRCh38]
Chr10:13320309 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.-20G>C single nucleotide variant Phytanic acid storage disease [RCV000402122] Chr10:13300062 [GRCh38]
Chr10:13342062 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.*22T>G single nucleotide variant Phytanic acid storage disease [RCV000336005]|not provided [RCV004705155] Chr10:13278279 [GRCh38]
Chr10:13320279 [GRCh37]
Chr10:10p13		 likely benign|uncertain significance
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys) single nucleotide variant Inborn genetic diseases [RCV002520543]|Phytanic acid storage disease [RCV000359852]|Retinal dystrophy [RCV004816526]|not provided [RCV000430932] Chr10:13288432 [GRCh38]
Chr10:13330432 [GRCh37]
Chr10:10p13		 conflicting interpretations of pathogenicity|uncertain significance
NM_006214.4(PHYH):c.*47G>A single nucleotide variant Phytanic acid storage disease [RCV000278569] Chr10:13278254 [GRCh38]
Chr10:13320254 [GRCh37]
Chr10:10p13		 likely benign|uncertain significance
NM_006214.4(PHYH):c.321G>A (p.Ser107=) single nucleotide variant Phytanic acid storage disease [RCV000295418]|not provided [RCV000959102]|not specified [RCV001700042] Chr10:13294521 [GRCh38]
Chr10:13336521 [GRCh37]
Chr10:10p13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006214.4(PHYH):c.*189del deletion Phytanic acid storage disease [RCV000337248]|not provided [RCV001718603] Chr10:13278112 [GRCh38]
Chr10:13320112 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.980G>A (p.Arg327Gln) single nucleotide variant PHYH-related disorder [RCV003950006]|Phytanic acid storage disease [RCV000314971]|not provided [RCV000883928] Chr10:13278338 [GRCh38]
Chr10:13320338 [GRCh37]
Chr10:10p13		 likely benign|uncertain significance
NM_006214.4(PHYH):c.678+15C>T single nucleotide variant Phytanic acid storage disease [RCV000366000]|not provided [RCV001523657]|not specified [RCV001699432] Chr10:13288345 [GRCh38]
Chr10:13330345 [GRCh37]
Chr10:10p13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) single nucleotide variant PHYH-related disorder [RCV003930251]|Phytanic acid storage disease [RCV000319288]|Retinal dystrophy [RCV004816528]|not provided [RCV000960582] Chr10:13294486 [GRCh38]
Chr10:13336486 [GRCh37]
Chr10:10p13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006214.4(PHYH):c.581C>T (p.Thr194Met) single nucleotide variant Phytanic acid storage disease [RCV000320474]|Retinal dystrophy [RCV004816527]|not provided [RCV001206588] Chr10:13288457 [GRCh38]
Chr10:13330457 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.415-11del deletion Phytanic acid storage disease [RCV000261842]|not provided [RCV001513243] Chr10:13291923 [GRCh38]
Chr10:13333923 [GRCh37]
Chr10:10p13		 benign|likely benign
NM_006214.4(PHYH):c.951C>T (p.Ser317=) single nucleotide variant not provided [RCV002104332] Chr10:13280988 [GRCh38]
Chr10:13322988 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.3(PHYH):c.-78G>T single nucleotide variant Phytanic acid storage disease [RCV000306191] Chr10:13300120 [GRCh38]
Chr10:13342120 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.176A>C (p.Lys59Thr) single nucleotide variant Phytanic acid storage disease [RCV000386294] Chr10:13295565 [GRCh38]
Chr10:13337565 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.245G>A (p.Arg82Gln) single nucleotide variant Phytanic acid storage disease [RCV000352671]|not provided [RCV002520544] Chr10:13295496 [GRCh38]
Chr10:13337496 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.679-11T>A single nucleotide variant Phytanic acid storage disease [RCV000308957] Chr10:13283850 [GRCh38]
Chr10:13325850 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.235C>T (p.Gln79Ter) single nucleotide variant not provided [RCV000592550] Chr10:13295506 [GRCh38]
Chr10:13337506 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.238C>T (p.Arg80Cys) single nucleotide variant Inborn genetic diseases [RCV004027029]|not provided [RCV000732159] Chr10:13295503 [GRCh38]
Chr10:13337503 [GRCh37]
Chr10:10p13		 uncertain significance
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 copy number gain See cases [RCV000447131] Chr10:100026..30278548 [GRCh37]
Chr10:10p15.3-11.23		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_006214.4(PHYH):c.354C>G (p.Ile118Met) single nucleotide variant Phytanic acid storage disease [RCV001107607]|not provided [RCV000494522] Chr10:13294488 [GRCh38]
Chr10:13336488 [GRCh37]
Chr10:10p13		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_006214.3(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis) duplication Phytanic acid storage disease [RCV000625407] Chr10:13278306..13278308 [GRCh38]
Chr10:13320306..13320308 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.649C>G (p.Leu217Val) single nucleotide variant Inborn genetic diseases [RCV003296271] Chr10:13288389 [GRCh38]
Chr10:13330389 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.414+2T>C single nucleotide variant Phytanic acid storage disease [RCV000674886] Chr10:13294426 [GRCh38]
Chr10:13336426 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis) duplication Nonsyndromic cleft lip palate [RCV000755124]|Optic atrophy [RCV004817741]|not provided [RCV000513200]|not specified [RCV004525953] Chr10:13278305..13278306 [GRCh38]
Chr10:13320305..13320306 [GRCh37]
Chr10:10p13		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006214.4(PHYH):c.1_24dup (p.Met1_Ala8dup) duplication Phytanic acid storage disease [RCV000670959] Chr10:13300018..13300019 [GRCh38]
Chr10:13342018..13342019 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.621_623del (p.Val208del) deletion Phytanic acid storage disease [RCV000672179]|not provided [RCV001861809] Chr10:13288415..13288417 [GRCh38]
Chr10:13330415..13330417 [GRCh37]
Chr10:10p13		 uncertain significance
GRCh37/hg19 10p13(chr10:12802555-14847149)x1 copy number loss not provided [RCV000683270] Chr10:12802555..14847149 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.135-1G>C single nucleotide variant Phytanic acid storage disease [RCV003473541]|Refsum syndrome [RCV001003121]|not provided [RCV001862725] Chr10:13295607 [GRCh38]
Chr10:13337607 [GRCh37]
Chr10:10p13		 pathogenic|likely pathogenic
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) single nucleotide variant Nonsyndromic cleft lip palate [RCV000755126]|Phytanic acid storage disease [RCV003130029]|not provided [RCV001404622]|not specified [RCV001731916] Chr10:13295497 [GRCh38]
Chr10:13337497 [GRCh37]
Chr10:10p13		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Single allele deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000735901] Chr10:4689760..19120882 [GRCh37]
Chr10:10p15.1-12.31		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p13(chr10:13341493-13341809)x0 copy number loss not provided [RCV000749507] Chr10:13341493..13341809 [GRCh37]
Chr10:10p13		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NC_000010.11:g.13300422_13300423insT insertion not provided [RCV001646000] Chr10:13300422..13300423 [GRCh38]
Chr10:13342422..13342423 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.568G>A (p.Val190Ile) single nucleotide variant not provided [RCV000981764] Chr10:13288470 [GRCh38]
Chr10:13330470 [GRCh37]
Chr10:10p13		 likely benign|conflicting interpretations of pathogenicity
NM_006214.4(PHYH):c.360G>A (p.Lys120=) single nucleotide variant PHYH-related disorder [RCV003912939]|not provided [RCV000905530] Chr10:13294482 [GRCh38]
Chr10:13336482 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.873C>T (p.Asp291=) single nucleotide variant not provided [RCV000901047] Chr10:13281066 [GRCh38]
Chr10:13323066 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.415-10G>T single nucleotide variant not provided [RCV000971052] Chr10:13291922 [GRCh38]
Chr10:13333922 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.400T>C (p.Cys134Arg) single nucleotide variant not provided [RCV001063690] Chr10:13294442 [GRCh38]
Chr10:13336442 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.290G>A (p.Gly97Glu) single nucleotide variant Inborn genetic diseases [RCV002551509]|not provided [RCV001042153] Chr10:13294552 [GRCh38]
Chr10:13336552 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.581C>A (p.Thr194Lys) single nucleotide variant not provided [RCV001046912] Chr10:13288457 [GRCh38]
Chr10:13330457 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.439A>G (p.Thr147Ala) single nucleotide variant not provided [RCV001070878] Chr10:13291888 [GRCh38]
Chr10:13333888 [GRCh37]
Chr10:10p13		 uncertain significance
NC_000010.11:g.(?_13278301)_(13329788_?)dup duplication not provided [RCV001033208] Chr10:13320301..13371788 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.703G>A (p.Gly235Arg) single nucleotide variant Phytanic acid storage disease [RCV000778275]|not provided [RCV002535632] Chr10:13283815 [GRCh38]
Chr10:13325815 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.964-9T>C single nucleotide variant not provided [RCV000896924] Chr10:13278363 [GRCh38]
Chr10:13320363 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.134+7A>C single nucleotide variant not provided [RCV000920588] Chr10:13298180 [GRCh38]
Chr10:13340180 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.51C>T (p.Leu17=) single nucleotide variant not provided [RCV000979669] Chr10:13299992 [GRCh38]
Chr10:13341992 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.390C>T (p.Leu130=) single nucleotide variant not provided [RCV000896357] Chr10:13294452 [GRCh38]
Chr10:13336452 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.512G>A (p.Arg171His) single nucleotide variant not provided [RCV000994355] Chr10:13288526 [GRCh38]
Chr10:13330526 [GRCh37]
Chr10:10p13		 likely pathogenic
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848062] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13		 pathogenic
NM_006214.4(PHYH):c.161C>T (p.Thr54Ile) single nucleotide variant not provided [RCV001054594] Chr10:13295580 [GRCh38]
Chr10:13337580 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.405T>G (p.Thr135=) single nucleotide variant not provided [RCV000975233] Chr10:13294437 [GRCh38]
Chr10:13336437 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.183T>C (p.Tyr61=) single nucleotide variant not provided [RCV000936619] Chr10:13295558 [GRCh38]
Chr10:13337558 [GRCh37]
Chr10:10p13		 likely benign
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848090] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13		 pathogenic
NM_006214.4(PHYH):c.986G>A (p.Arg329Gln) single nucleotide variant not provided [RCV001214113] Chr10:13278332 [GRCh38]
Chr10:13320332 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.565A>T (p.Ile189Phe) single nucleotide variant not provided [RCV001205976] Chr10:13288473 [GRCh38]
Chr10:13330473 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.449A>C (p.Asn150Thr) single nucleotide variant not provided [RCV001240836] Chr10:13291878 [GRCh38]
Chr10:13333878 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.404C>T (p.Thr135Ile) single nucleotide variant not provided [RCV001226986] Chr10:13294438 [GRCh38]
Chr10:13336438 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.334G>C (p.Ala112Pro) single nucleotide variant not provided [RCV001221766] Chr10:13294508 [GRCh38]
Chr10:13336508 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.781T>A (p.Leu261Met) single nucleotide variant not provided [RCV001204186] Chr10:13283737 [GRCh38]
Chr10:13325737 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.739C>T (p.His247Tyr) single nucleotide variant Phytanic acid storage disease [RCV001106947]|not provided [RCV001862859] Chr10:13283779 [GRCh38]
Chr10:13325779 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.948T>C (p.Asn316=) single nucleotide variant Phytanic acid storage disease [RCV001104174]|not provided [RCV001522937] Chr10:13280991 [GRCh38]
Chr10:13322991 [GRCh37]
Chr10:10p13		 benign|uncertain significance
NM_006214.4(PHYH):c.760G>A (p.Asp254Asn) single nucleotide variant not provided [RCV001212402] Chr10:13283758 [GRCh38]
Chr10:13325758 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.964-303A>G single nucleotide variant not provided [RCV001549677] Chr10:13278657 [GRCh38]
Chr10:13320657 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.75+132C>G single nucleotide variant not provided [RCV001722081] Chr10:13299836 [GRCh38]
Chr10:13341836 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.678+166A>G single nucleotide variant not provided [RCV001584606] Chr10:13288194 [GRCh38]
Chr10:13330194 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.135-241dup duplication not provided [RCV001558580] Chr10:13295831..13295832 [GRCh38]
Chr10:13337831..13337832 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.134+302T>C single nucleotide variant not provided [RCV001620552] Chr10:13297885 [GRCh38]
Chr10:13339885 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.76-130A>C single nucleotide variant not provided [RCV001657003] Chr10:13298375 [GRCh38]
Chr10:13340375 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.415-224C>A single nucleotide variant not provided [RCV001650680] Chr10:13292136 [GRCh38]
Chr10:13334136 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.582G>T (p.Thr194=) single nucleotide variant not provided [RCV000942922] Chr10:13288456 [GRCh38]
Chr10:13330456 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.19G>A (p.Ala7Thr) single nucleotide variant Phytanic acid storage disease [RCV003483807]|not provided [RCV001247213] Chr10:13300024 [GRCh38]
Chr10:13342024 [GRCh37]
Chr10:10p13		 uncertain significance|not provided
NM_006214.4(PHYH):c.683G>C (p.Gly228Ala) single nucleotide variant not provided [RCV001218757] Chr10:13283835 [GRCh38]
Chr10:13325835 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.856G>A (p.Asp286Asn) single nucleotide variant not provided [RCV001245104] Chr10:13281083 [GRCh38]
Chr10:13323083 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.586A>G (p.Met196Val) single nucleotide variant Inborn genetic diseases [RCV002553789]|not provided [RCV001055093] Chr10:13288452 [GRCh38]
Chr10:13330452 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.548T>C (p.Phe183Ser) single nucleotide variant not provided [RCV001209925] Chr10:13288490 [GRCh38]
Chr10:13330490 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.135-227_135-226del deletion not provided [RCV001562236] Chr10:13295832..13295833 [GRCh38]
Chr10:13337832..13337833 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.75+159A>C single nucleotide variant not provided [RCV001656729] Chr10:13299809 [GRCh38]
Chr10:13341809 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.964-57T>A single nucleotide variant not provided [RCV001598321] Chr10:13278411 [GRCh38]
Chr10:13320411 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.135-226del deletion not provided [RCV001658750] Chr10:13295832 [GRCh38]
Chr10:13337832 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.496+210T>C single nucleotide variant not provided [RCV001540834] Chr10:13291621 [GRCh38]
Chr10:13333621 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.246-58G>T single nucleotide variant not provided [RCV001539608] Chr10:13294654 [GRCh38]
Chr10:13336654 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.829-303_829-302dup duplication not provided [RCV001621649] Chr10:13281399..13281400 [GRCh38]
Chr10:13323399..13323400 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.76-94C>T single nucleotide variant not provided [RCV001637222] Chr10:13298339 [GRCh38]
Chr10:13340339 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.75+79G>C single nucleotide variant not provided [RCV001660978] Chr10:13299889 [GRCh38]
Chr10:13341889 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.678+69C>A single nucleotide variant not provided [RCV001608858] Chr10:13288291 [GRCh38]
Chr10:13330291 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.245+166A>G single nucleotide variant not provided [RCV001621562] Chr10:13295330 [GRCh38]
Chr10:13337330 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.679-107G>A single nucleotide variant not provided [RCV001595320] Chr10:13283946 [GRCh38]
Chr10:13325946 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.*189dup duplication not provided [RCV001594544] Chr10:13278111..13278112 [GRCh38]
Chr10:13320111..13320112 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.964-201A>G single nucleotide variant not provided [RCV001722082] Chr10:13278555 [GRCh38]
Chr10:13320555 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.829-290del deletion not provided [RCV001621066] Chr10:13281400 [GRCh38]
Chr10:13323400 [GRCh37]
Chr10:10p13		 benign
NC_000010.11:g.13300401G>A single nucleotide variant not provided [RCV001598878] Chr10:13300401 [GRCh38]
Chr10:13342401 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.75+237T>C single nucleotide variant not provided [RCV001722667] Chr10:13299731 [GRCh38]
Chr10:13341731 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.*188A>C single nucleotide variant Phytanic acid storage disease [RCV001103889] Chr10:13278113 [GRCh38]
Chr10:13320113 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.679G>T (p.Gly227Trp) single nucleotide variant Inborn genetic diseases [RCV002555045]|Phytanic acid storage disease [RCV001106948]|not provided [RCV001699508] Chr10:13283839 [GRCh38]
Chr10:13325839 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.148A>G (p.Asn50Asp) single nucleotide variant not provided [RCV001062900] Chr10:13295593 [GRCh38]
Chr10:13337593 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.496+264T>C single nucleotide variant not provided [RCV001693250] Chr10:13291567 [GRCh38]
Chr10:13333567 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.415-146T>C single nucleotide variant not provided [RCV001651781] Chr10:13292058 [GRCh38]
Chr10:13334058 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.76-48T>C single nucleotide variant Phytanic acid storage disease [RCV001788585]|not provided [RCV001536860] Chr10:13298293 [GRCh38]
Chr10:13340293 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.245+177T>G single nucleotide variant not provided [RCV001647661] Chr10:13295319 [GRCh38]
Chr10:13337319 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.829-303dup duplication not provided [RCV001696633] Chr10:13281399..13281400 [GRCh38]
Chr10:13323399..13323400 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.375_376del (p.Glu126fs) deletion Phytanic acid storage disease [RCV003473811]|not provided [RCV001236811] Chr10:13294466..13294467 [GRCh38]
Chr10:13336466..13336467 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.*25C>T single nucleotide variant Phytanic acid storage disease [RCV001104173] Chr10:13278276 [GRCh38]
Chr10:13320276 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.619G>A (p.Val207Ile) single nucleotide variant not provided [RCV001248187] Chr10:13288419 [GRCh38]
Chr10:13330419 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.991G>C (p.Val331Leu) single nucleotide variant Inborn genetic diseases [RCV002551414]|not provided [RCV001038360] Chr10:13278327 [GRCh38]
Chr10:13320327 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.244C>T (p.Arg82Trp) single nucleotide variant Phytanic acid storage disease [RCV002484260]|not provided [RCV001230809] Chr10:13295497 [GRCh38]
Chr10:13337497 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.497-2A>G single nucleotide variant Phytanic acid storage disease [RCV001784612]|Retinal dystrophy [RCV001075231]|not provided [RCV001058049] Chr10:13288543 [GRCh38]
Chr10:13330543 [GRCh37]
Chr10:10p13		 pathogenic|likely pathogenic
NM_006214.4(PHYH):c.872A>C (p.Asp291Ala) single nucleotide variant not provided [RCV001203937] Chr10:13281067 [GRCh38]
Chr10:13323067 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.530A>G (p.Asp177Gly) single nucleotide variant Phytanic acid storage disease [RCV003473705]|Retinal dystrophy [RCV001074765]|not provided [RCV001092476] Chr10:13288508 [GRCh38]
Chr10:13330508 [GRCh37]
Chr10:10p13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_006214.4(PHYH):c.517C>A (p.Pro173Thr) single nucleotide variant Retinal dystrophy [RCV001074766]|not provided [RCV003546613] Chr10:13288521 [GRCh38]
Chr10:13330521 [GRCh37]
Chr10:10p13		 likely pathogenic|uncertain significance
NM_006214.4(PHYH):c.*499C>T single nucleotide variant Phytanic acid storage disease [RCV001103885] Chr10:13277802 [GRCh38]
Chr10:13319802 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.*434A>G single nucleotide variant Phytanic acid storage disease [RCV001103886] Chr10:13277867 [GRCh38]
Chr10:13319867 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.*417A>G single nucleotide variant Phytanic acid storage disease [RCV001103887] Chr10:13277884 [GRCh38]
Chr10:13319884 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.*253G>T single nucleotide variant Phytanic acid storage disease [RCV001103888] Chr10:13278048 [GRCh38]
Chr10:13320048 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.83A>G (p.His28Arg) single nucleotide variant Phytanic acid storage disease [RCV001103992]|not provided [RCV001238159] Chr10:13298238 [GRCh38]
Chr10:13340238 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.830C>A (p.Ala277Glu) single nucleotide variant Phytanic acid storage disease [RCV004761930]|not provided [RCV001092475] Chr10:13281109 [GRCh38]
Chr10:13323109 [GRCh37]
Chr10:10p13		 pathogenic|likely pathogenic
NM_006214.4(PHYH):c.828+4A>T single nucleotide variant Phytanic acid storage disease [RCV001104175] Chr10:13283686 [GRCh38]
Chr10:13325686 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.679G>C (p.Gly227Arg) single nucleotide variant PHYH-related disorder [RCV003405228]|not provided [RCV001042183] Chr10:13283839 [GRCh38]
Chr10:13325839 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.414+141T>G single nucleotide variant not provided [RCV001641749] Chr10:13294287 [GRCh38]
Chr10:13336287 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.679-3T>G single nucleotide variant not provided [RCV001297339] Chr10:13283842 [GRCh38]
Chr10:13325842 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.772T>G (p.Phe258Val) single nucleotide variant not provided [RCV001325758] Chr10:13283746 [GRCh38]
Chr10:13325746 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.285A>C (p.Pro95=) single nucleotide variant not provided [RCV001391975] Chr10:13294557 [GRCh38]
Chr10:13336557 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.599G>A (p.Ser200Asn) single nucleotide variant not provided [RCV001369419] Chr10:13288439 [GRCh38]
Chr10:13330439 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.722A>G (p.Glu241Gly) single nucleotide variant Inborn genetic diseases [RCV004034083]|not provided [RCV001306139] Chr10:13283796 [GRCh38]
Chr10:13325796 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.827A>C (p.Lys276Thr) single nucleotide variant not provided [RCV001345934] Chr10:13283691 [GRCh38]
Chr10:13325691 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.609C>G (p.Asn203Lys) single nucleotide variant not provided [RCV001371748] Chr10:13288429 [GRCh38]
Chr10:13330429 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.658C>T (p.His220Tyr) single nucleotide variant not provided [RCV001320360] Chr10:13288380 [GRCh38]
Chr10:13330380 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.388C>T (p.Leu130Phe) single nucleotide variant not provided [RCV001365225] Chr10:13294454 [GRCh38]
Chr10:13336454 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.679-1dup duplication Phytanic acid storage disease [RCV003475158]|Retinal dystrophy [RCV004815758]|not provided [RCV001901517] Chr10:13283834..13283835 [GRCh38]
Chr10:13325834..13325835 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.567C>G (p.Ile189Met) single nucleotide variant Inborn genetic diseases [RCV002544629]|not provided [RCV001302435] Chr10:13288471 [GRCh38]
Chr10:13330471 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.353T>C (p.Ile118Thr) single nucleotide variant not provided [RCV001307232] Chr10:13294489 [GRCh38]
Chr10:13336489 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.980G>T (p.Arg327Leu) single nucleotide variant not provided [RCV001364280] Chr10:13278338 [GRCh38]
Chr10:13320338 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.898A>G (p.Ile300Val) single nucleotide variant not provided [RCV001362512] Chr10:13281041 [GRCh38]
Chr10:13323041 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.721G>A (p.Glu241Lys) single nucleotide variant not provided [RCV001351714] Chr10:13283797 [GRCh38]
Chr10:13325797 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.338C>T (p.Pro113Leu) single nucleotide variant not provided [RCV001359142] Chr10:13294504 [GRCh38]
Chr10:13336504 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.847G>A (p.Ala283Thr) single nucleotide variant Inborn genetic diseases [RCV003166844]|not provided [RCV001318433] Chr10:13281092 [GRCh38]
Chr10:13323092 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.759C>T (p.Gly253=) single nucleotide variant PHYH-related disorder [RCV004731147]|not provided [RCV001421135] Chr10:13283759 [GRCh38]
Chr10:13325759 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.876G>A (p.Val292=) single nucleotide variant not provided [RCV001394972] Chr10:13281063 [GRCh38]
Chr10:13323063 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.674G>T (p.Trp225Leu) single nucleotide variant not provided [RCV001361141] Chr10:13288364 [GRCh38]
Chr10:13330364 [GRCh37]
Chr10:10p13		 uncertain significance
GRCh37/hg19 10p14-13(chr10:9137489-17227168) copy number loss Neurodevelopmental delay [RCV001352639] Chr10:9137489..17227168 [GRCh37]
Chr10:10p14-13		 pathogenic
NM_006214.4(PHYH):c.229G>A (p.Asp77Asn) single nucleotide variant Inborn genetic diseases [RCV002550110]|not provided [RCV001370624] Chr10:13295512 [GRCh38]
Chr10:13337512 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.163C>T (p.Leu55=) single nucleotide variant not provided [RCV001469531] Chr10:13295578 [GRCh38]
Chr10:13337578 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.357G>A (p.Thr119=) single nucleotide variant not provided [RCV001505051] Chr10:13294485 [GRCh38]
Chr10:13336485 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.306A>G (p.Arg102=) single nucleotide variant not provided [RCV001418601] Chr10:13294536 [GRCh38]
Chr10:13336536 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.134+10T>C single nucleotide variant not provided [RCV001439515] Chr10:13298177 [GRCh38]
Chr10:13340177 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.829-4A>G single nucleotide variant not provided [RCV001434587] Chr10:13281114 [GRCh38]
Chr10:13323114 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.529G>A (p.Asp177Asn) single nucleotide variant not provided [RCV001543477] Chr10:13288509 [GRCh38]
Chr10:13330509 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.576C>T (p.Ala192=) single nucleotide variant not provided [RCV001440509] Chr10:13288462 [GRCh38]
Chr10:13330462 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.702C>T (p.His234=) single nucleotide variant not provided [RCV001472597] Chr10:13283816 [GRCh38]
Chr10:13325816 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.75+68T>C single nucleotide variant not provided [RCV001675395] Chr10:13299900 [GRCh38]
Chr10:13341900 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.574G>T (p.Ala192Ser) single nucleotide variant not provided [RCV001700643] Chr10:13288464 [GRCh38]
Chr10:13330464 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.679-262A>G single nucleotide variant not provided [RCV001686192] Chr10:13284101 [GRCh38]
Chr10:13326101 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.846C>T (p.Phe282=) single nucleotide variant Phytanic acid storage disease [RCV002501503]|not provided [RCV001424743] Chr10:13281093 [GRCh38]
Chr10:13323093 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.411C>T (p.Pro137=) single nucleotide variant not provided [RCV001477463] Chr10:13294431 [GRCh38]
Chr10:13336431 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.426T>C (p.Tyr142=) single nucleotide variant not provided [RCV001488187] Chr10:13291901 [GRCh38]
Chr10:13333901 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.69G>A (p.Gly23=) single nucleotide variant not provided [RCV001443121] Chr10:13299974 [GRCh38]
Chr10:13341974 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.627C>G (p.Leu209=) single nucleotide variant not provided [RCV001428040] Chr10:13288411 [GRCh38]
Chr10:13330411 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.681G>A (p.Gly227=) single nucleotide variant not provided [RCV001394151] Chr10:13283837 [GRCh38]
Chr10:13325837 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.829-1G>A single nucleotide variant not provided [RCV001377837] Chr10:13281111 [GRCh38]
Chr10:13323111 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.101T>A (p.Ile34Asn) single nucleotide variant not provided [RCV001888961] Chr10:13298220 [GRCh38]
Chr10:13340220 [GRCh37]
Chr10:10p13		 uncertain significance
GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521) copy number gain not specified [RCV002052863] Chr10:6273934..34732521 [GRCh37]
Chr10:10p15.1-11.21		 pathogenic
NM_006214.4(PHYH):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV001971126] Chr10:13300042 [GRCh38]
Chr10:13342042 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.237A>G (p.Gln79=) single nucleotide variant not provided [RCV001864343] Chr10:13295504 [GRCh38]
Chr10:13337504 [GRCh37]
Chr10:10p13		 likely benign|uncertain significance
NM_006214.4(PHYH):c.227C>T (p.Ala76Val) single nucleotide variant not provided [RCV001864371] Chr10:13295514 [GRCh38]
Chr10:13337514 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.678+4G>C single nucleotide variant not provided [RCV001890836] Chr10:13288356 [GRCh38]
Chr10:13330356 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.388C>A (p.Leu130Ile) single nucleotide variant not provided [RCV002042914] Chr10:13294454 [GRCh38]
Chr10:13336454 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.815A>T (p.Gln272Leu) single nucleotide variant not provided [RCV001872268] Chr10:13283703 [GRCh38]
Chr10:13325703 [GRCh37]
Chr10:10p13		 uncertain significance
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 copy number gain Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] Chr10:135655..47688677 [GRCh37]
Chr10:10p15.3-q11.22		 not provided
NM_006214.4(PHYH):c.874G>C (p.Val292Leu) single nucleotide variant not provided [RCV001914216] Chr10:13281065 [GRCh38]
Chr10:13323065 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.512G>T (p.Arg171Leu) single nucleotide variant not provided [RCV001913286] Chr10:13288526 [GRCh38]
Chr10:13330526 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.986G>C (p.Arg329Pro) single nucleotide variant not provided [RCV001983313] Chr10:13278332 [GRCh38]
Chr10:13320332 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.332A>G (p.Tyr111Cys) single nucleotide variant not provided [RCV001908049] Chr10:13294510 [GRCh38]
Chr10:13336510 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.476T>C (p.Ile159Thr) single nucleotide variant not provided [RCV001948200] Chr10:13291851 [GRCh38]
Chr10:13333851 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.544C>G (p.Pro182Ala) single nucleotide variant not provided [RCV001947152] Chr10:13288494 [GRCh38]
Chr10:13330494 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.588G>A (p.Met196Ile) single nucleotide variant not provided [RCV001891088] Chr10:13288450 [GRCh38]
Chr10:13330450 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.972G>T (p.Trp324Cys) single nucleotide variant not provided [RCV002002277] Chr10:13278346 [GRCh38]
Chr10:13320346 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.856G>T (p.Asp286Tyr) single nucleotide variant not provided [RCV001940651] Chr10:13281083 [GRCh38]
Chr10:13323083 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.536A>G (p.His179Arg) single nucleotide variant not provided [RCV002000796] Chr10:13288502 [GRCh38]
Chr10:13330502 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.667C>T (p.Pro223Ser) single nucleotide variant not provided [RCV001944402] Chr10:13288371 [GRCh38]
Chr10:13330371 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.731C>G (p.Ala244Gly) single nucleotide variant not provided [RCV001992488] Chr10:13283787 [GRCh38]
Chr10:13325787 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.25C>G (p.Arg9Gly) single nucleotide variant not provided [RCV002028323] Chr10:13300018 [GRCh38]
Chr10:13342018 [GRCh37]
Chr10:10p13		 uncertain significance
NC_000010.10:g.(?_13333811)_(13333932_?)del deletion not provided [RCV001963314] Chr10:13333811..13333932 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.620T>A (p.Val207Asp) single nucleotide variant not provided [RCV001888735] Chr10:13288418 [GRCh38]
Chr10:13330418 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.736G>A (p.Val246Met) single nucleotide variant not provided [RCV001972151] Chr10:13283782 [GRCh38]
Chr10:13325782 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.506C>T (p.Thr169Met) single nucleotide variant Phytanic acid storage disease [RCV003233036]|not provided [RCV001943543] Chr10:13288532 [GRCh38]
Chr10:13330532 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.75+19G>A single nucleotide variant not provided [RCV001887578] Chr10:13299949 [GRCh38]
Chr10:13341949 [GRCh37]
Chr10:10p13		 likely benign|uncertain significance
NC_000010.10:g.(?_12111033)_(13342042_?)dup duplication not provided [RCV001979753] Chr10:12111033..13342042 [GRCh37]
Chr10:10p14-13		 uncertain significance
NM_006214.4(PHYH):c.140C>T (p.Thr47Ile) single nucleotide variant not provided [RCV001943037] Chr10:13295601 [GRCh38]
Chr10:13337601 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.973A>T (p.Met325Leu) single nucleotide variant not provided [RCV002012937] Chr10:13278345 [GRCh38]
Chr10:13320345 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.828+20C>T single nucleotide variant not provided [RCV002030603] Chr10:13283670 [GRCh38]
Chr10:13325670 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.110C>T (p.Ala37Val) single nucleotide variant not provided [RCV001989676] Chr10:13298211 [GRCh38]
Chr10:13340211 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.941C>T (p.Ala314Val) single nucleotide variant not provided [RCV001898072] Chr10:13280998 [GRCh38]
Chr10:13322998 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.744G>A (p.Leu248=) single nucleotide variant not provided [RCV001933960] Chr10:13283774 [GRCh38]
Chr10:13325774 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.460A>G (p.Met154Val) single nucleotide variant not provided [RCV001915637] Chr10:13291867 [GRCh38]
Chr10:13333867 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.950G>A (p.Ser317Asn) single nucleotide variant Inborn genetic diseases [RCV002551134]|not provided [RCV001899680] Chr10:13280989 [GRCh38]
Chr10:13322989 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.75+1G>T single nucleotide variant PHYH-related disorder [RCV003402009]|not provided [RCV001995907] Chr10:13299967 [GRCh38]
Chr10:13341967 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.397T>C (p.Tyr133His) single nucleotide variant Inborn genetic diseases [RCV003264165]|not provided [RCV001879540] Chr10:13294445 [GRCh38]
Chr10:13336445 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.829-19A>G single nucleotide variant not provided [RCV002047914] Chr10:13281129 [GRCh38]
Chr10:13323129 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.683G>A (p.Gly228Glu) single nucleotide variant not provided [RCV002033017] Chr10:13283835 [GRCh38]
Chr10:13325835 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.952G>A (p.Val318Met) single nucleotide variant Inborn genetic diseases [RCV004041948]|not provided [RCV001931488] Chr10:13280987 [GRCh38]
Chr10:13322987 [GRCh37]
Chr10:10p13		 likely benign|uncertain significance
NM_006214.4(PHYH):c.760G>T (p.Asp254Tyr) single nucleotide variant not provided [RCV001880875] Chr10:13283758 [GRCh38]
Chr10:13325758 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.341G>A (p.Ser114Asn) single nucleotide variant Inborn genetic diseases [RCV002550458]|not provided [RCV002027595] Chr10:13294501 [GRCh38]
Chr10:13336501 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.901G>A (p.Glu301Lys) single nucleotide variant not provided [RCV001884757] Chr10:13281038 [GRCh38]
Chr10:13323038 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.497-1G>A single nucleotide variant Phytanic acid storage disease [RCV003475265]|not provided [RCV001973508] Chr10:13288542 [GRCh38]
Chr10:13330542 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.76-2A>G single nucleotide variant not provided [RCV002027702] Chr10:13298247 [GRCh38]
Chr10:13340247 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.134+6T>C single nucleotide variant not provided [RCV002016840] Chr10:13298181 [GRCh38]
Chr10:13340181 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.133C>T (p.Gln45Ter) single nucleotide variant not provided [RCV001883855] Chr10:13298188 [GRCh38]
Chr10:13340188 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.661G>A (p.Asp221Asn) single nucleotide variant not provided [RCV001907138] Chr10:13288377 [GRCh38]
Chr10:13330377 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.718G>A (p.Glu240Lys) single nucleotide variant not provided [RCV001961332] Chr10:13283800 [GRCh38]
Chr10:13325800 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.328G>A (p.Glu110Lys) single nucleotide variant not provided [RCV001981124] Chr10:13294514 [GRCh38]
Chr10:13336514 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.42_60dup (p.Ser21fs) duplication Phytanic acid storage disease [RCV003475223]|not provided [RCV001939633] Chr10:13299982..13299983 [GRCh38]
Chr10:13341982..13341983 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.4G>C (p.Glu2Gln) single nucleotide variant not provided [RCV002011404] Chr10:13300039 [GRCh38]
Chr10:13342039 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.496+6T>A single nucleotide variant not provided [RCV002027037] Chr10:13291825 [GRCh38]
Chr10:13333825 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.678+16G>A single nucleotide variant not provided [RCV001877219]|not specified [RCV004699515] Chr10:13288344 [GRCh38]
Chr10:13330344 [GRCh37]
Chr10:10p13		 likely benign|uncertain significance
NM_006214.4(PHYH):c.13C>T (p.Arg5Cys) single nucleotide variant not provided [RCV001957068] Chr10:13300030 [GRCh38]
Chr10:13342030 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.246-3T>C single nucleotide variant not provided [RCV001957345] Chr10:13294599 [GRCh38]
Chr10:13336599 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.76-14A>T single nucleotide variant not provided [RCV002092121] Chr10:13298259 [GRCh38]
Chr10:13340259 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.135-20G>A single nucleotide variant not provided [RCV002109963] Chr10:13295626 [GRCh38]
Chr10:13337626 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.399C>T (p.Tyr133=) single nucleotide variant not provided [RCV002189522] Chr10:13294443 [GRCh38]
Chr10:13336443 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.142C>T (p.Leu48=) single nucleotide variant not provided [RCV002088939] Chr10:13295599 [GRCh38]
Chr10:13337599 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.246-15A>C single nucleotide variant not provided [RCV002107859] Chr10:13294611 [GRCh38]
Chr10:13336611 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.40C>T (p.Leu14=) single nucleotide variant not provided [RCV002088124] Chr10:13300003 [GRCh38]
Chr10:13342003 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.76-8C>T single nucleotide variant not provided [RCV002150543] Chr10:13298253 [GRCh38]
Chr10:13340253 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.415-16T>G single nucleotide variant not provided [RCV002147121] Chr10:13291928 [GRCh38]
Chr10:13333928 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.135-8T>C single nucleotide variant not provided [RCV002079487] Chr10:13295614 [GRCh38]
Chr10:13337614 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.415-20T>G single nucleotide variant not provided [RCV002174687] Chr10:13291932 [GRCh38]
Chr10:13333932 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.964-18G>C single nucleotide variant not provided [RCV002134911] Chr10:13278372 [GRCh38]
Chr10:13320372 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.1014T>C (p.Leu338=) single nucleotide variant PHYH-related disorder [RCV003916310]|not provided [RCV002129280] Chr10:13278304 [GRCh38]
Chr10:13320304 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.573C>T (p.Cys191=) single nucleotide variant not provided [RCV002094792] Chr10:13288465 [GRCh38]
Chr10:13330465 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.206T>C (p.Ile69Thr) single nucleotide variant not provided [RCV000153696] Chr10:13295535 [GRCh38]
Chr10:13337535 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.840C>A (p.Cys280Ter) single nucleotide variant not provided [RCV000443182] Chr10:13281099 [GRCh38]
Chr10:13323099 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.135-228_135-226del deletion not provided [RCV001680762] Chr10:13295832..13295834 [GRCh38]
Chr10:13337832..13337834 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.669C>G (p.Pro223=) single nucleotide variant not provided [RCV001494493] Chr10:13288369 [GRCh38]
Chr10:13330369 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.135-93C>T single nucleotide variant not provided [RCV001592509] Chr10:13295699 [GRCh38]
Chr10:13337699 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.1010A>G (p.Asn337Ser) single nucleotide variant not provided [RCV001976490] Chr10:13278308 [GRCh38]
Chr10:13320308 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.964-13A>G single nucleotide variant not provided [RCV001903915] Chr10:13278367 [GRCh38]
Chr10:13320367 [GRCh37]
Chr10:10p13		 likely benign|uncertain significance
NM_006214.4(PHYH):c.927T>C (p.His309=) single nucleotide variant not provided [RCV002080415] Chr10:13281012 [GRCh38]
Chr10:13323012 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.829-15G>A single nucleotide variant not provided [RCV002152001] Chr10:13281125 [GRCh38]
Chr10:13323125 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.134+13A>T single nucleotide variant not provided [RCV002076927] Chr10:13298174 [GRCh38]
Chr10:13340174 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.468A>C (p.Thr156=) single nucleotide variant not provided [RCV002199411] Chr10:13291859 [GRCh38]
Chr10:13333859 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.246-17C>G single nucleotide variant not provided [RCV002099820] Chr10:13294613 [GRCh38]
Chr10:13336613 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.679-13C>T single nucleotide variant not provided [RCV002119819] Chr10:13283852 [GRCh38]
Chr10:13325852 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.885C>A (p.Thr295=) single nucleotide variant not provided [RCV002160031] Chr10:13281054 [GRCh38]
Chr10:13323054 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.309T>C (p.Asp103=) single nucleotide variant not provided [RCV002140118] Chr10:13294533 [GRCh38]
Chr10:13336533 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.480C>T (p.Asn160=) single nucleotide variant not provided [RCV002144480] Chr10:13291847 [GRCh38]
Chr10:13333847 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.45C>T (p.Gly15=) single nucleotide variant not provided [RCV002120839] Chr10:13299998 [GRCh38]
Chr10:13341998 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.829-15G>C single nucleotide variant not provided [RCV002219022] Chr10:13281125 [GRCh38]
Chr10:13323125 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.855C>T (p.Ala285=) single nucleotide variant not provided [RCV002120041] Chr10:13281084 [GRCh38]
Chr10:13323084 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.973A>G (p.Met325Val) single nucleotide variant not specified [RCV002222906] Chr10:13278345 [GRCh38]
Chr10:13320345 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.679-14G>A single nucleotide variant not provided [RCV002122244] Chr10:13283853 [GRCh38]
Chr10:13325853 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.497-17G>A single nucleotide variant not provided [RCV002176510] Chr10:13288558 [GRCh38]
Chr10:13330558 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.964-19T>C single nucleotide variant not provided [RCV002160596] Chr10:13278373 [GRCh38]
Chr10:13320373 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.831A>C (p.Ala277=) single nucleotide variant not provided [RCV002122274] Chr10:13281108 [GRCh38]
Chr10:13323108 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.318T>A (p.Ile106=) single nucleotide variant not provided [RCV002101685] Chr10:13294524 [GRCh38]
Chr10:13336524 [GRCh37]
Chr10:10p13		 likely benign
NC_000010.10:g.(?_13340167)_(13340265_?)del deletion not provided [RCV003109456] Chr10:13340167..13340265 [GRCh37]
Chr10:10p13		 pathogenic
NC_000010.10:g.(?_13340167)_(13342042_?)del deletion not provided [RCV003109457] Chr10:13340167..13342042 [GRCh37]
Chr10:10p13		 pathogenic
NC_000010.10:g.(?_13336408)_(13342042_?)dup duplication not provided [RCV003109458] Chr10:13336408..13342042 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.846C>A (p.Phe282Leu) single nucleotide variant not provided [RCV002261893] Chr10:13281093 [GRCh38]
Chr10:13323093 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.811del (p.Thr271fs) deletion Phytanic acid storage disease [RCV002272697] Chr10:13283707 [GRCh38]
Chr10:13325707 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.1011T>A (p.Asn337Lys) single nucleotide variant Inborn genetic diseases [RCV003284506] Chr10:13278307 [GRCh38]
Chr10:13320307 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.549_550delinsT (p.Arg184fs) indel Phytanic acid storage disease [RCV002307941] Chr10:13288488..13288489 [GRCh38]
Chr10:13330488..13330489 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.502A>T (p.Lys168Ter) single nucleotide variant Phytanic acid storage disease [RCV002308280] Chr10:13288536 [GRCh38]
Chr10:13330536 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.684del (p.Val229fs) deletion Phytanic acid storage disease [RCV002307991] Chr10:13283834 [GRCh38]
Chr10:13325834 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.640A>T (p.Lys214Ter) single nucleotide variant Phytanic acid storage disease [RCV002309016] Chr10:13288398 [GRCh38]
Chr10:13330398 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.488del (p.Pro163fs) deletion Phytanic acid storage disease [RCV002306832] Chr10:13291839 [GRCh38]
Chr10:13333839 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.145G>T (p.Asp49Tyr) single nucleotide variant Inborn genetic diseases [RCV002907027] Chr10:13295596 [GRCh38]
Chr10:13337596 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.154G>A (p.Val52Ile) single nucleotide variant not provided [RCV003013290] Chr10:13295587 [GRCh38]
Chr10:13337587 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.501G>A (p.Lys167=) single nucleotide variant not provided [RCV003017547] Chr10:13288537 [GRCh38]
Chr10:13330537 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.639_640del (p.His213fs) microsatellite not provided [RCV002685652] Chr10:13288398..13288399 [GRCh38]
Chr10:13330398..13330399 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.70G>T (p.Ala24Ser) single nucleotide variant not provided [RCV003097438] Chr10:13299973 [GRCh38]
Chr10:13341973 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.496+8T>C single nucleotide variant not provided [RCV002841985] Chr10:13291823 [GRCh38]
Chr10:13333823 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.528G>A (p.Gln176=) single nucleotide variant not provided [RCV003033716] Chr10:13288510 [GRCh38]
Chr10:13330510 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.605A>G (p.Asn202Ser) single nucleotide variant not provided [RCV002616242] Chr10:13288433 [GRCh38]
Chr10:13330433 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.900C>T (p.Ile300=) single nucleotide variant not provided [RCV002614740] Chr10:13281039 [GRCh38]
Chr10:13323039 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.585G>A (p.Ala195=) single nucleotide variant not provided [RCV002685407] Chr10:13288453 [GRCh38]
Chr10:13330453 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.75C>A (p.Val25=) single nucleotide variant not provided [RCV002755695] Chr10:13299968 [GRCh38]
Chr10:13341968 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.380A>G (p.Asp127Gly) single nucleotide variant not provided [RCV002909633] Chr10:13294462 [GRCh38]
Chr10:13336462 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.898A>C (p.Ile300Leu) single nucleotide variant not provided [RCV002820651] Chr10:13281041 [GRCh38]
Chr10:13323041 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.125A>G (p.Gln42Arg) single nucleotide variant Inborn genetic diseases [RCV002805422]|not provided [RCV002785935] Chr10:13298196 [GRCh38]
Chr10:13340196 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.303G>T (p.Met101Ile) single nucleotide variant not provided [RCV002622291] Chr10:13294539 [GRCh38]
Chr10:13336539 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.21C>G (p.Ala7=) single nucleotide variant not provided [RCV002590652] Chr10:13300022 [GRCh38]
Chr10:13342022 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.37G>T (p.Val13Phe) single nucleotide variant not provided [RCV002569949] Chr10:13300006 [GRCh38]
Chr10:13342006 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.733C>T (p.Arg245Trp) single nucleotide variant Inborn genetic diseases [RCV004958631]|not provided [RCV002621584] Chr10:13283785 [GRCh38]
Chr10:13325785 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.302T>C (p.Met101Thr) single nucleotide variant not provided [RCV003055066] Chr10:13294540 [GRCh38]
Chr10:13336540 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.457del (p.Ala153fs) deletion Phytanic acid storage disease [RCV003475488]|not provided [RCV003037338] Chr10:13291870 [GRCh38]
Chr10:13333870 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.1006A>C (p.Thr336Pro) single nucleotide variant not provided [RCV002913631] Chr10:13278312 [GRCh38]
Chr10:13320312 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.124C>G (p.Gln42Glu) single nucleotide variant not provided [RCV003077888] Chr10:13298197 [GRCh38]
Chr10:13340197 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.925C>T (p.His309Tyr) single nucleotide variant not provided [RCV003083511] Chr10:13281014 [GRCh38]
Chr10:13323014 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.732_739del (p.Arg245fs) deletion not provided [RCV003042923] Chr10:13283779..13283786 [GRCh38]
Chr10:13325779..13325786 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.42G>A (p.Leu14=) single nucleotide variant not provided [RCV002741262] Chr10:13300001 [GRCh38]
Chr10:13342001 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.602G>A (p.Arg201Gln) single nucleotide variant not provided [RCV002595565] Chr10:13288436 [GRCh38]
Chr10:13330436 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.153_154delinsTA (p.Val52Ile) indel not provided [RCV002642872] Chr10:13295587..13295588 [GRCh38]
Chr10:13337587..13337588 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.863A>C (p.His288Pro) single nucleotide variant not provided [RCV002825779] Chr10:13281076 [GRCh38]
Chr10:13323076 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.463C>A (p.His155Asn) single nucleotide variant not provided [RCV003085164] Chr10:13291864 [GRCh38]
Chr10:13333864 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.983C>G (p.Ala328Gly) single nucleotide variant not provided [RCV003057299] Chr10:13278335 [GRCh38]
Chr10:13320335 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.352A>T (p.Ile118Phe) single nucleotide variant not provided [RCV002932059] Chr10:13294490 [GRCh38]
Chr10:13336490 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.679-12C>T single nucleotide variant not provided [RCV003024357] Chr10:13283851 [GRCh38]
Chr10:13325851 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.537C>T (p.His179=) single nucleotide variant not provided [RCV003025826] Chr10:13288501 [GRCh38]
Chr10:13330501 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.700C>T (p.His234Tyr) single nucleotide variant not provided [RCV002957692] Chr10:13283818 [GRCh38]
Chr10:13325818 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.406C>T (p.Leu136Phe) single nucleotide variant not provided [RCV002850868] Chr10:13294436 [GRCh38]
Chr10:13336436 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.272A>C (p.Lys91Thr) single nucleotide variant not provided [RCV002917556] Chr10:13294570 [GRCh38]
Chr10:13336570 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.101T>C (p.Ile34Thr) single nucleotide variant not provided [RCV002918640] Chr10:13298220 [GRCh38]
Chr10:13340220 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.651G>A (p.Leu217=) single nucleotide variant not provided [RCV003058173] Chr10:13288387 [GRCh38]
Chr10:13330387 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.675G>A (p.Trp225Ter) single nucleotide variant Phytanic acid storage disease [RCV004571232]|not provided [RCV002741112] Chr10:13288363 [GRCh38]
Chr10:13330363 [GRCh37]
Chr10:10p13		 pathogenic|likely pathogenic
NM_006214.4(PHYH):c.414+12C>T single nucleotide variant not provided [RCV002932837] Chr10:13294416 [GRCh38]
Chr10:13336416 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.95G>A (p.Gly32Glu) single nucleotide variant not provided [RCV003031551] Chr10:13298226 [GRCh38]
Chr10:13340226 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.32A>C (p.Gln11Pro) single nucleotide variant not provided [RCV003091198] Chr10:13300011 [GRCh38]
Chr10:13342011 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.785T>C (p.Leu262Pro) single nucleotide variant not provided [RCV003091752] Chr10:13283733 [GRCh38]
Chr10:13325733 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.936T>C (p.Phe312=) single nucleotide variant not provided [RCV003086276] Chr10:13281003 [GRCh38]
Chr10:13323003 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.245+6G>C single nucleotide variant not provided [RCV002670901] Chr10:13295490 [GRCh38]
Chr10:13337490 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.928A>G (p.Lys310Glu) single nucleotide variant not provided [RCV002962335] Chr10:13281011 [GRCh38]
Chr10:13323011 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.979C>T (p.Arg327Ter) single nucleotide variant not provided [RCV003089377] Chr10:13278339 [GRCh38]
Chr10:13320339 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.457G>A (p.Ala153Thr) single nucleotide variant not provided [RCV002792074] Chr10:13291870 [GRCh38]
Chr10:13333870 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.711G>A (p.Gln237=) single nucleotide variant not provided [RCV003046610] Chr10:13283807 [GRCh38]
Chr10:13325807 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.192T>C (p.Asn64=) single nucleotide variant not provided [RCV002716592] Chr10:13295549 [GRCh38]
Chr10:13337549 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.680G>C (p.Gly227Ala) single nucleotide variant Inborn genetic diseases [RCV004070235]|Retinal dystrophy [RCV004817209]|not provided [RCV003060220] Chr10:13283838 [GRCh38]
Chr10:13325838 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.430G>A (p.Glu144Lys) single nucleotide variant not provided [RCV002937249] Chr10:13291897 [GRCh38]
Chr10:13333897 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.735G>A (p.Arg245=) single nucleotide variant not provided [RCV002810513] Chr10:13283783 [GRCh38]
Chr10:13325783 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.913G>A (p.Val305Ile) single nucleotide variant not provided [RCV002630918] Chr10:13281026 [GRCh38]
Chr10:13323026 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.702C>A (p.His234Gln) single nucleotide variant not provided [RCV002810871] Chr10:13283816 [GRCh38]
Chr10:13325816 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.415-11T>A single nucleotide variant not provided [RCV002578407] Chr10:13291923 [GRCh38]
Chr10:13333923 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.627C>T (p.Leu209=) single nucleotide variant not provided [RCV002832985] Chr10:13288411 [GRCh38]
Chr10:13330411 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.641A>T (p.Lys214Met) single nucleotide variant not provided [RCV002812067] Chr10:13288397 [GRCh38]
Chr10:13330397 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.230A>C (p.Asp77Ala) single nucleotide variant not provided [RCV003066884] Chr10:13295511 [GRCh38]
Chr10:13337511 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.305G>C (p.Arg102Thr) single nucleotide variant not provided [RCV002725370] Chr10:13294537 [GRCh38]
Chr10:13336537 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.692A>G (p.Lys231Arg) single nucleotide variant not provided [RCV002603873] Chr10:13283826 [GRCh38]
Chr10:13325826 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.497-3C>T single nucleotide variant not provided [RCV002726076] Chr10:13288544 [GRCh38]
Chr10:13330544 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.793G>A (p.Gly265Arg) single nucleotide variant not provided [RCV002721457] Chr10:13283725 [GRCh38]
Chr10:13325725 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.333T>C (p.Tyr111=) single nucleotide variant not provided [RCV002603729] Chr10:13294509 [GRCh38]
Chr10:13336509 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.828+20C>G single nucleotide variant not provided [RCV002586855] Chr10:13283670 [GRCh38]
Chr10:13325670 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.105C>T (p.Ser35=) single nucleotide variant not provided [RCV003093544] Chr10:13298216 [GRCh38]
Chr10:13340216 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.55C>A (p.Arg19Ser) single nucleotide variant not provided [RCV003049612] Chr10:13299988 [GRCh38]
Chr10:13341988 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.985C>T (p.Arg329Ter) single nucleotide variant not provided [RCV002588491] Chr10:13278333 [GRCh38]
Chr10:13320333 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV003066773] Chr10:13300041 [GRCh38]
Chr10:13342041 [GRCh37]
Chr10:10p13		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_006214.4(PHYH):c.520dup (p.Leu174fs) duplication Phytanic acid storage disease [RCV003475559]|not provided [RCV003322248] Chr10:13288517..13288518 [GRCh38]
Chr10:13330517..13330518 [GRCh37]
Chr10:10p13		 pathogenic|likely pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_006214.4(PHYH):c.546C>G (p.Pro182=) single nucleotide variant not provided [RCV003543146] Chr10:13288492 [GRCh38]
Chr10:13330492 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.50dup (p.Gly18fs) duplication Phytanic acid storage disease [RCV003472445] Chr10:13299992..13299993 [GRCh38]
Chr10:13341992..13341993 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.415-1G>T single nucleotide variant Phytanic acid storage disease [RCV003472447] Chr10:13291913 [GRCh38]
Chr10:13333913 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.124C>T (p.Gln42Ter) single nucleotide variant Phytanic acid storage disease [RCV003472442] Chr10:13298197 [GRCh38]
Chr10:13340197 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.330A>G (p.Glu110=) single nucleotide variant not provided [RCV003874590] Chr10:13294512 [GRCh38]
Chr10:13336512 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.388del (p.Leu130fs) deletion Phytanic acid storage disease [RCV003472441] Chr10:13294454 [GRCh38]
Chr10:13336454 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.225del (p.Asp75fs) deletion Phytanic acid storage disease [RCV003472444] Chr10:13295516 [GRCh38]
Chr10:13337516 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.343G>T (p.Glu115Ter) single nucleotide variant Phytanic acid storage disease [RCV003472450] Chr10:13294499 [GRCh38]
Chr10:13336499 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.366G>A (p.Gln122=) single nucleotide variant not provided [RCV003568968] Chr10:13294476 [GRCh38]
Chr10:13336476 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.527_528del (p.Gln176fs) deletion Phytanic acid storage disease [RCV003472448] Chr10:13288510..13288511 [GRCh38]
Chr10:13330510..13330511 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.426del (p.Lys141_Tyr142insTer) deletion Phytanic acid storage disease [RCV003472449]|not provided [RCV003708812] Chr10:13291901 [GRCh38]
Chr10:13333901 [GRCh37]
Chr10:10p13		 pathogenic|likely pathogenic
GRCh37/hg19 10p14-13(chr10:10175327-13529362)x3 copy number gain not provided [RCV003484791] Chr10:10175327..13529362 [GRCh37]
Chr10:10p14-13		 uncertain significance
NM_006214.4(PHYH):c.399C>G (p.Tyr133Ter) single nucleotide variant Phytanic acid storage disease [RCV003472451] Chr10:13294443 [GRCh38]
Chr10:13336443 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.96G>A (p.Gly32=) single nucleotide variant not provided [RCV003666254] Chr10:13298225 [GRCh38]
Chr10:13340225 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.578G>A (p.Trp193Ter) single nucleotide variant Phytanic acid storage disease [RCV003472446] Chr10:13288460 [GRCh38]
Chr10:13330460 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.496+20A>C single nucleotide variant not provided [RCV003696508] Chr10:13291811 [GRCh38]
Chr10:13333811 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.363C>T (p.Val121=) single nucleotide variant not provided [RCV003578213] Chr10:13294479 [GRCh38]
Chr10:13336479 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.339A>G (p.Pro113=) single nucleotide variant not provided [RCV003696356] Chr10:13294503 [GRCh38]
Chr10:13336503 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.245+10C>T single nucleotide variant not provided [RCV003579161] Chr10:13295486 [GRCh38]
Chr10:13337486 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.25_32del (p.Arg9fs) deletion not provided [RCV003696458] Chr10:13300011..13300018 [GRCh38]
Chr10:13342011..13342018 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.134+17T>A single nucleotide variant not provided [RCV003577358] Chr10:13298170 [GRCh38]
Chr10:13340170 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.963+11A>G single nucleotide variant not provided [RCV003576993] Chr10:13280965 [GRCh38]
Chr10:13322965 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.75+13C>T single nucleotide variant not provided [RCV003666123] Chr10:13299955 [GRCh38]
Chr10:13341955 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.134+11T>G single nucleotide variant not provided [RCV003694246] Chr10:13298176 [GRCh38]
Chr10:13340176 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.717C>G (p.Tyr239Ter) single nucleotide variant not provided [RCV003694286] Chr10:13283801 [GRCh38]
Chr10:13325801 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.387G>A (p.Glu129=) single nucleotide variant not provided [RCV003577169] Chr10:13294455 [GRCh38]
Chr10:13336455 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.327C>T (p.Ser109=) single nucleotide variant not provided [RCV003662033] Chr10:13294515 [GRCh38]
Chr10:13336515 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.135-13T>C single nucleotide variant not provided [RCV003691186] Chr10:13295619 [GRCh38]
Chr10:13337619 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.432G>A (p.Glu144=) single nucleotide variant not provided [RCV003574677] Chr10:13291895 [GRCh38]
Chr10:13333895 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.76-15T>C single nucleotide variant not provided [RCV003545259] Chr10:13298260 [GRCh38]
Chr10:13340260 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.678+12C>T single nucleotide variant not provided [RCV003739325] Chr10:13288348 [GRCh38]
Chr10:13330348 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.69G>T (p.Gly23=) single nucleotide variant not provided [RCV003690039] Chr10:13299974 [GRCh38]
Chr10:13341974 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.963+16A>G single nucleotide variant not provided [RCV003692790] Chr10:13280960 [GRCh38]
Chr10:13322960 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.678+13G>A single nucleotide variant not provided [RCV003830697] Chr10:13288347 [GRCh38]
Chr10:13330347 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.679-7G>A single nucleotide variant not provided [RCV003577344] Chr10:13283846 [GRCh38]
Chr10:13325846 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.171G>A (p.Gln57=) single nucleotide variant not provided [RCV003690325] Chr10:13295570 [GRCh38]
Chr10:13337570 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.134+7A>G single nucleotide variant not provided [RCV003691774] Chr10:13298180 [GRCh38]
Chr10:13340180 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.966T>C (p.Asp322=) single nucleotide variant not provided [RCV003716426] Chr10:13278352 [GRCh38]
Chr10:13320352 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.245+16T>C single nucleotide variant not provided [RCV003690928] Chr10:13295480 [GRCh38]
Chr10:13337480 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.57C>T (p.Arg19=) single nucleotide variant not provided [RCV003714664] Chr10:13299986 [GRCh38]
Chr10:13341986 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.134+1G>A single nucleotide variant Phytanic acid storage disease [RCV004574126]|not provided [RCV003572169] Chr10:13298186 [GRCh38]
Chr10:13340186 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.245+8A>G single nucleotide variant not provided [RCV003546982] Chr10:13295488 [GRCh38]
Chr10:13337488 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.414+18C>T single nucleotide variant not provided [RCV003659778] Chr10:13294410 [GRCh38]
Chr10:13336410 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.678+12C>A single nucleotide variant not provided [RCV003659802] Chr10:13288348 [GRCh38]
Chr10:13330348 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.54C>G (p.Gly18=) single nucleotide variant not provided [RCV003696992] Chr10:13299989 [GRCh38]
Chr10:13341989 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.415-17T>C single nucleotide variant not provided [RCV003663683] Chr10:13291929 [GRCh38]
Chr10:13333929 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.496+14A>G single nucleotide variant not provided [RCV003698375] Chr10:13291817 [GRCh38]
Chr10:13333817 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.510C>T (p.Ser170=) single nucleotide variant not provided [RCV003837991] Chr10:13288528 [GRCh38]
Chr10:13330528 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.228C>T (p.Ala76=) single nucleotide variant not provided [RCV003669632] Chr10:13295513 [GRCh38]
Chr10:13337513 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.408C>T (p.Leu136=) single nucleotide variant not provided [RCV003702464] Chr10:13294434 [GRCh38]
Chr10:13336434 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.597C>T (p.Ile199=) single nucleotide variant not provided [RCV003850436] Chr10:13288441 [GRCh38]
Chr10:13330441 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.76-4C>G single nucleotide variant not provided [RCV003663979] Chr10:13298249 [GRCh38]
Chr10:13340249 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.492T>C (p.Asp164=) single nucleotide variant not provided [RCV003850945] Chr10:13291835 [GRCh38]
Chr10:13333835 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.555C>T (p.Pro185=) single nucleotide variant not provided [RCV003723367] Chr10:13288483 [GRCh38]
Chr10:13330483 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.678+2T>C single nucleotide variant Phytanic acid storage disease [RCV004574177]|not provided [RCV003667152] Chr10:13288358 [GRCh38]
Chr10:13330358 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.135-15_135-12del deletion not provided [RCV003674289] Chr10:13295618..13295621 [GRCh38]
Chr10:13337618..13337621 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.415-3_419del deletion not provided [RCV003670106] Chr10:13291908..13291915 [GRCh38]
Chr10:13333908..13333915 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.279G>A (p.Val93=) single nucleotide variant not provided [RCV003703734] Chr10:13294563 [GRCh38]
Chr10:13336563 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.245+14A>G single nucleotide variant not provided [RCV003839787] Chr10:13295482 [GRCh38]
Chr10:13337482 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.964-20_964-19del microsatellite not provided [RCV003666516] Chr10:13278373..13278374 [GRCh38]
Chr10:13320373..13320374 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.127C>T (p.Gln43Ter) single nucleotide variant not provided [RCV003663989] Chr10:13298194 [GRCh38]
Chr10:13340194 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.678+15C>A single nucleotide variant not provided [RCV003673434] Chr10:13288345 [GRCh38]
Chr10:13330345 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.654G>A (p.Lys218=) single nucleotide variant not provided [RCV003668952] Chr10:13288384 [GRCh38]
Chr10:13330384 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.679-2A>C single nucleotide variant not provided [RCV003723834] Chr10:13283841 [GRCh38]
Chr10:13325841 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.264C>A (p.Ile88=) single nucleotide variant not provided [RCV003560399] Chr10:13294578 [GRCh38]
Chr10:13336578 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.657C>A (p.Pro219=) single nucleotide variant not provided [RCV003700997] Chr10:13288381 [GRCh38]
Chr10:13330381 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.246-16A>C single nucleotide variant not provided [RCV003700507] Chr10:13294612 [GRCh38]
Chr10:13336612 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.679-9T>C single nucleotide variant not provided [RCV003579752] Chr10:13283848 [GRCh38]
Chr10:13325848 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.520del (p.Leu174fs) deletion not provided [RCV003671432] Chr10:13288518 [GRCh38]
Chr10:13330518 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.245+12C>G single nucleotide variant not provided [RCV003723874] Chr10:13295484 [GRCh38]
Chr10:13337484 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.963+9G>A single nucleotide variant not provided [RCV003860822] Chr10:13280967 [GRCh38]
Chr10:13322967 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.829-12C>T single nucleotide variant not provided [RCV003563660] Chr10:13281122 [GRCh38]
Chr10:13323122 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.817G>T (p.Gly273Ter) single nucleotide variant not provided [RCV003704416] Chr10:13283701 [GRCh38]
Chr10:13325701 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.497-14G>C single nucleotide variant not provided [RCV003541987] Chr10:13288555 [GRCh38]
Chr10:13330555 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.412G>T (p.Glu138Ter) single nucleotide variant not provided [RCV003679697] Chr10:13294430 [GRCh38]
Chr10:13336430 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.709C>T (p.Gln237Ter) single nucleotide variant not provided [RCV003711368] Chr10:13283809 [GRCh38]
Chr10:13325809 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.774C>T (p.Phe258=) single nucleotide variant not provided [RCV003818689] Chr10:13283744 [GRCh38]
Chr10:13325744 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.519C>T (p.Pro173=) single nucleotide variant not provided [RCV003735929] Chr10:13288519 [GRCh38]
Chr10:13330519 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.66C>A (p.Ala22=) single nucleotide variant not provided [RCV003552993] Chr10:13299977 [GRCh38]
Chr10:13341977 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.246-1G>C single nucleotide variant not provided [RCV003564484] Chr10:13294597 [GRCh38]
Chr10:13336597 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.415-5C>T single nucleotide variant not provided [RCV003703887] Chr10:13291917 [GRCh38]
Chr10:13333917 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.981A>G (p.Arg327=) single nucleotide variant not provided [RCV003678412] Chr10:13278337 [GRCh38]
Chr10:13320337 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.24C>G (p.Ala8=) single nucleotide variant not provided [RCV003737396] Chr10:13300019 [GRCh38]
Chr10:13342019 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.679-1G>T single nucleotide variant not provided [RCV003557499] Chr10:13283840 [GRCh38]
Chr10:13325840 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.497-15A>G single nucleotide variant not provided [RCV003737724] Chr10:13288556 [GRCh38]
Chr10:13330556 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.357G>C (p.Thr119=) single nucleotide variant not provided [RCV003719199] Chr10:13294485 [GRCh38]
Chr10:13336485 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.423A>G (p.Lys141=) single nucleotide variant not provided [RCV003552462] Chr10:13291904 [GRCh38]
Chr10:13333904 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.48C>T (p.His16=) single nucleotide variant not provided [RCV003734006] Chr10:13299995 [GRCh38]
Chr10:13341995 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.964-12T>C single nucleotide variant not provided [RCV003684273] Chr10:13278366 [GRCh38]
Chr10:13320366 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.828+10C>T single nucleotide variant not provided [RCV003683241] Chr10:13283680 [GRCh38]
Chr10:13325680 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.78A>G (p.Val26=) single nucleotide variant not provided [RCV003718820] Chr10:13298243 [GRCh38]
Chr10:13340243 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.678+11C>T single nucleotide variant not provided [RCV003737886] Chr10:13288349 [GRCh38]
Chr10:13330349 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.497-4T>C single nucleotide variant not provided [RCV003720431] Chr10:13288545 [GRCh38]
Chr10:13330545 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.135-18A>C single nucleotide variant not provided [RCV003681412] Chr10:13295624 [GRCh38]
Chr10:13337624 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.493dup (p.Ser165fs) duplication not provided [RCV003677778] Chr10:13291833..13291834 [GRCh38]
Chr10:13333833..13333834 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.415-12_415-11dup duplication not provided [RCV003551006] Chr10:13291922..13291923 [GRCh38]
Chr10:13333922..13333923 [GRCh37]
Chr10:10p13		 benign
NM_006214.4(PHYH):c.733_734delinsTA (p.Arg245Ter) indel not provided [RCV003718749] Chr10:13283784..13283785 [GRCh38]
Chr10:13325784..13325785 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.285A>G (p.Pro95=) single nucleotide variant not provided [RCV003556949] Chr10:13294557 [GRCh38]
Chr10:13336557 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.690C>T (p.Asn230=) single nucleotide variant not provided [RCV003710487] Chr10:13283828 [GRCh38]
Chr10:13325828 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.520C>T (p.Leu174=) single nucleotide variant not provided [RCV003726937] Chr10:13288518 [GRCh38]
Chr10:13330518 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.964-10T>C single nucleotide variant not provided [RCV003563389] Chr10:13278364 [GRCh38]
Chr10:13320364 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.111C>A (p.Ala37=) single nucleotide variant not provided [RCV003675687] Chr10:13298210 [GRCh38]
Chr10:13340210 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.964-14G>C single nucleotide variant not provided [RCV003848024] Chr10:13278368 [GRCh38]
Chr10:13320368 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.87C>A (p.Pro29=) single nucleotide variant not provided [RCV003674977] Chr10:13298234 [GRCh38]
Chr10:13340234 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.222T>A (p.Pro74=) single nucleotide variant not provided [RCV003678544] Chr10:13295519 [GRCh38]
Chr10:13337519 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.802C>T (p.Gln268Ter) single nucleotide variant not provided [RCV003680456] Chr10:13283716 [GRCh38]
Chr10:13325716 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.660C>T (p.His220=) single nucleotide variant not provided [RCV003681514] Chr10:13288378 [GRCh38]
Chr10:13330378 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.76-18C>T single nucleotide variant not provided [RCV003675011] Chr10:13298263 [GRCh38]
Chr10:13340263 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.57_67del (p.Pro20fs) deletion not provided [RCV003820185] Chr10:13299976..13299986 [GRCh38]
Chr10:13341976..13341986 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.679-2del deletion not provided [RCV003854268] Chr10:13283841 [GRCh38]
Chr10:13325841 [GRCh37]
Chr10:10p13		 likely pathogenic
NC_000010.10:g.(?_13336408)_(13337626_?)del deletion not provided [RCV004581747] Chr10:13336408..13337626 [GRCh37]
Chr10:10p13		 pathogenic
NC_000010.10:g.(?_13320301)_(13342042_?)del deletion not provided [RCV004581743] Chr10:13320301..13342042 [GRCh37]
Chr10:10p13		 pathogenic
NC_000010.10:g.(?_13341948)_(13342042_?)del deletion not provided [RCV004581744] Chr10:13341948..13342042 [GRCh37]
Chr10:10p13		 pathogenic
NC_000010.10:g.(?_13330340)_(13342042_?)del deletion not provided [RCV004581745] Chr10:13330340..13342042 [GRCh37]
Chr10:10p13		 pathogenic
NC_000010.10:g.(?_13320301)_(13340265_?)del deletion not provided [RCV004581746] Chr10:13320301..13340265 [GRCh37]
Chr10:10p13		 pathogenic
NC_000010.10:g.(?_13330340)_(13337626_?)del deletion not provided [RCV004581748] Chr10:13330340..13337626 [GRCh37]
Chr10:10p13		 pathogenic
NC_000010.10:g.(?_13325670)_(13330561_?)del deletion not provided [RCV004581750] Chr10:13325670..13330561 [GRCh37]
Chr10:10p13		 pathogenic
NC_000010.10:g.(?_13320301)_(13325859_?)del deletion not provided [RCV004581751] Chr10:13320301..13325859 [GRCh37]
Chr10:10p13		 pathogenic
NM_006214.4(PHYH):c.76-1G>A single nucleotide variant Phytanic acid storage disease [RCV004574538] Chr10:13298246 [GRCh38]
Chr10:13340246 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.511C>T (p.Arg171Cys) single nucleotide variant not specified [RCV004701136] Chr10:13288527 [GRCh38]
Chr10:13330527 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.517C>T (p.Pro173Ser) single nucleotide variant not specified [RCV004766935] Chr10:13288521 [GRCh38]
Chr10:13330521 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.514C>T (p.His172Tyr) single nucleotide variant not provided [RCV004793248] Chr10:13288524 [GRCh38]
Chr10:13330524 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.22G>T (p.Ala8Ser) single nucleotide variant not provided [RCV004793249] Chr10:13300021 [GRCh38]
Chr10:13342021 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.336del (p.Pro113fs) deletion Phytanic acid storage disease [RCV004759612]   pathogenic
NM_006214.4(PHYH):c.626T>G (p.Leu209Arg) single nucleotide variant Phytanic acid storage disease [RCV004764651] Chr10:13288412 [GRCh38]
Chr10:13330412 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.7C>T (p.Gln3Ter) single nucleotide variant Phytanic acid storage disease [RCV005033110] Chr10:13300036 [GRCh38]
Chr10:13342036 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.881del (p.Gly294fs) deletion Phytanic acid storage disease [RCV005033088] Chr10:13281058 [GRCh38]
Chr10:13323058 [GRCh37]
Chr10:10p13		 likely pathogenic
GRCh37/hg19 10p15.3-12.31(chr10:100027-18976780)x3 copy number gain not provided [RCV004819307] Chr10:100027..18976780 [GRCh37]
Chr10:10p15.3-12.31		 pathogenic
GRCh37/hg19 10p15.1-13(chr10:3983598-13457969)x3 copy number gain not provided [RCV004819555] Chr10:3983598..13457969 [GRCh37]
Chr10:10p15.1-13		 uncertain significance
NM_006214.4(PHYH):c.135-14T>C single nucleotide variant not provided [RCV003677344] Chr10:13295620 [GRCh38]
Chr10:13337620 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.964-20C>G single nucleotide variant not provided [RCV002125418] Chr10:13278374 [GRCh38]
Chr10:13320374 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.69G>C (p.Gly23=) single nucleotide variant not provided [RCV002179897] Chr10:13299974 [GRCh38]
Chr10:13341974 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.828+19G>T single nucleotide variant not provided [RCV002181110] Chr10:13283671 [GRCh38]
Chr10:13325671 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.134+96G>T single nucleotide variant not provided [RCV002286229] Chr10:13298091 [GRCh38]
Chr10:13340091 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.686_687del (p.Val229fs) deletion Phytanic acid storage disease [RCV002310496] Chr10:13283831..13283832 [GRCh38]
Chr10:13325831..13325832 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.679G>A (p.Gly227Arg) single nucleotide variant Inborn genetic diseases [RCV002945666] Chr10:13283839 [GRCh38]
Chr10:13325839 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.668C>G (p.Pro223Arg) single nucleotide variant not specified [RCV003331812] Chr10:13288370 [GRCh38]
Chr10:13330370 [GRCh37]
Chr10:10p13		 uncertain significance
NM_006214.4(PHYH):c.896del (p.Asn299fs) deletion Phytanic acid storage disease [RCV003472443] Chr10:13281043 [GRCh38]
Chr10:13323043 [GRCh37]
Chr10:10p13		 likely pathogenic
NM_006214.4(PHYH):c.134+11T>C single nucleotide variant not provided [RCV003579317] Chr10:13298176 [GRCh38]
Chr10:13340176 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.679-20T>A single nucleotide variant not provided [RCV003724554] Chr10:13283859 [GRCh38]
Chr10:13325859 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.882C>T (p.Gly294=) single nucleotide variant not provided [RCV003697045] Chr10:13281057 [GRCh38]
Chr10:13323057 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.609C>T (p.Asn203=) single nucleotide variant not provided [RCV003858654] Chr10:13288429 [GRCh38]
Chr10:13330429 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.168A>G (p.Glu56=) single nucleotide variant not provided [RCV003682799] Chr10:13295573 [GRCh38]
Chr10:13337573 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.906G>A (p.Lys302=) single nucleotide variant not provided [RCV003676030] Chr10:13281033 [GRCh38]
Chr10:13323033 [GRCh37]
Chr10:10p13		 likely benign
NM_006214.4(PHYH):c.415-15T>G single nucleotide variant not provided [RCV003553366] Chr10:13291927 [GRCh38]
Chr10:13333927 [GRCh37]
Chr10:10p13		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1116
Count of miRNA genes:598
Interacting mature miRNAs:652
Transcripts:ENST00000263038, ENST00000396913, ENST00000396920, ENST00000453759, ENST00000463730, ENST00000464049, ENST00000479604
Prediction methods:Microtar, 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
597243324GWAS1339398_Hglucose measurement QTL GWAS1339398 (human)2e-12glucose measurementblood glucose level (CMO:0000046)101328378413283785Human
407050484GWAS699460_Hkynurenic acid measurement QTL GWAS699460 (human)0.000009kynurenic acid measurement101328839513288396Human
597102187GWAS1198261_Hreading and spelling ability QTL GWAS1198261 (human)0.000006reading and spelling ability101329889613298897Human

Markers in Region
WI-16723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371013,319,796 - 13,319,934UniSTSGRCh37
Build 361013,359,802 - 13,359,940RGDNCBI36
Celera1013,246,935 - 13,247,073RGD
Cytogenetic Map10p13UniSTS
HuRef1013,232,668 - 13,232,806UniSTS
GeneMap99-GB4 RH Map1095.04UniSTS
Whitehead-RH Map1087.1UniSTS
NCBI RH Map10198.2UniSTS
RH15740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371013,341,548 - 13,341,684UniSTSGRCh37
Build 361013,381,554 - 13,381,690RGDNCBI36
Celera1013,268,655 - 13,268,791RGD
Cytogenetic Map10p13UniSTS
HuRef1013,254,414 - 13,254,550UniSTS
GeneMap99-GB4 RH Map1096.73UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 5 624 1951 465 2269 7305 6471 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001037537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF023462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF112977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF185692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF509272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM351828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000263038   ⟹   ENSP00000263038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,277,799 - 13,300,064 (-)Ensembl
Ensembl Acc Id: ENST00000396913   ⟹   ENSP00000380121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,277,796 - 13,299,763 (-)Ensembl
Ensembl Acc Id: ENST00000396920   ⟹   ENSP00000380126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,277,843 - 13,302,412 (-)Ensembl
Ensembl Acc Id: ENST00000453759   ⟹   ENSP00000412525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,283,690 - 13,299,549 (-)Ensembl
Ensembl Acc Id: ENST00000463730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,295,228 - 13,300,097 (-)Ensembl
Ensembl Acc Id: ENST00000464049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,291,461 - 13,294,987 (-)Ensembl
Ensembl Acc Id: ENST00000479604   ⟹   ENSP00000420117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,288,412 - 13,300,052 (-)Ensembl
RefSeq Acc Id: NM_001037537   ⟹   NP_001032626
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381013,277,799 - 13,299,763 (-)NCBI
GRCh371013,319,796 - 13,342,133 (-)NCBI
Build 361013,359,802 - 13,381,752 (-)NCBI Archive
HuRef1013,232,668 - 13,254,996 (-)ENTREZGENE
CHM1_11013,319,709 - 13,342,307 (-)NCBI
T2T-CHM13v2.01013,290,862 - 13,312,815 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323080   ⟹   NP_001310009
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381013,277,799 - 13,299,763 (-)NCBI
CHM1_11013,319,709 - 13,342,307 (-)NCBI
T2T-CHM13v2.01013,290,862 - 13,312,815 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323082   ⟹   NP_001310011
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381013,277,799 - 13,300,064 (-)NCBI
CHM1_11013,319,709 - 13,342,691 (-)NCBI
T2T-CHM13v2.01013,290,862 - 13,313,116 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323083   ⟹   NP_001310012
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381013,277,799 - 13,300,064 (-)NCBI
CHM1_11013,319,709 - 13,342,691 (-)NCBI
T2T-CHM13v2.01013,290,862 - 13,313,116 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323084   ⟹   NP_001310013
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381013,277,799 - 13,299,763 (-)NCBI
CHM1_11013,319,709 - 13,342,307 (-)NCBI
T2T-CHM13v2.01013,290,862 - 13,312,815 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006214   ⟹   NP_006205
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381013,277,799 - 13,300,064 (-)NCBI
GRCh371013,319,796 - 13,342,133 (-)NCBI
Build 361013,359,802 - 13,382,136 (-)NCBI Archive
HuRef1013,232,668 - 13,254,996 (-)ENTREZGENE
CHM1_11013,319,709 - 13,342,691 (-)NCBI
T2T-CHM13v2.01013,290,862 - 13,313,116 (-)NCBI
Sequence:
RefSeq Acc Id: NP_006205   ⟸   NM_006214
- Peptide Label: isoform a precursor
- UniProtKB: A8MTS8 (UniProtKB/Swiss-Prot),   B1ALH5 (UniProtKB/Swiss-Prot),   O14832 (UniProtKB/Swiss-Prot),   Q6FGQ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001032626   ⟸   NM_001037537
- Peptide Label: isoform b
- UniProtKB: O14832 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310012   ⟸   NM_001323083
- Peptide Label: isoform d precursor
- Sequence:
RefSeq Acc Id: NP_001310011   ⟸   NM_001323082
- Peptide Label: isoform c precursor
- UniProtKB: Q6FGQ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310013   ⟸   NM_001323084
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001310009   ⟸   NM_001323080
- Peptide Label: isoform b
- UniProtKB: O14832 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000420117   ⟸   ENST00000479604
Ensembl Acc Id: ENSP00000412525   ⟸   ENST00000453759
Ensembl Acc Id: ENSP00000263038   ⟸   ENST00000263038
Ensembl Acc Id: ENSP00000380121   ⟸   ENST00000396913
Ensembl Acc Id: ENSP00000380126   ⟸   ENST00000396920

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14832-F1-model_v2 AlphaFold O14832 1-338 view protein structure

Promoters
RGD ID:7217009
Promoter ID:EPDNEW_H14250
Type:initiation region
Name:PHYH_1
Description:phytanoyl-CoA 2-hydroxylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381013,300,063 - 13,300,123EPDNEW
RGD ID:6787553
Promoter ID:HG_KWN:8627
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000378659,   NM_001037537,   NM_006214,   OTTHUMT00000046846,   OTTHUMT00000046847
Position:
Human AssemblyChrPosition (strand)Source
Build 361013,381,631 - 13,382,162 (-)MPROMDB
RGD ID:6787979
Promoter ID:HG_KWN:8628
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001IMG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361013,384,046 - 13,384,546 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8940 AgrOrtholog
COSMIC PHYH COSMIC
Ensembl Genes ENSG00000107537 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000263038 ENTREZGENE
  ENST00000263038.9 UniProtKB/Swiss-Prot
  ENST00000396913 ENTREZGENE
  ENST00000396913.6 UniProtKB/Swiss-Prot
  ENST00000396920 ENTREZGENE
  ENST00000396920.7 UniProtKB/TrEMBL
  ENST00000453759.6 UniProtKB/TrEMBL
  ENST00000479604.1 UniProtKB/TrEMBL
Gene3D-CATH q2cbj1_9rhob like domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000107537 GTEx
HGNC ID HGNC:8940 ENTREZGENE
Human Proteome Map PHYH Human Proteome Map
InterPro PhyH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phytyl_CoA_dOase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5264 UniProtKB/Swiss-Prot
NCBI Gene 5264 ENTREZGENE
OMIM 602026 OMIM
PANTHER PHYTANOYL-COA ALPHA-HYDROXYLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHYTANOYL-COA DIOXYGENASE, PEROXISOMAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PhyH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33280 PharmGKB
Superfamily-SCOP Clavaminate synthase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MTS8 ENTREZGENE
  B1ALH5 ENTREZGENE
  B1ALH6_HUMAN UniProtKB/TrEMBL
  C9IYS5_HUMAN UniProtKB/TrEMBL
  C9JR86_HUMAN UniProtKB/TrEMBL
  O14832 ENTREZGENE, UniProtKB/Swiss-Prot
  Q6FGQ2 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8MTS8 UniProtKB/Swiss-Prot
  B1ALH5 UniProtKB/Swiss-Prot