FA2H (fatty acid 2-hydroxylase) - Rat Genome Database

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Gene: FA2H (fatty acid 2-hydroxylase) Homo sapiens
Analyze
Symbol: FA2H
Name: fatty acid 2-hydroxylase
RGD ID: 1318772
HGNC Page HGNC:21197
Description: Enables fatty acid alpha-hydroxylase activity. Involved in ceramide biosynthetic process and establishment of skin barrier. Located in membrane. Implicated in hereditary spastic paraplegia 35.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FAAH; FAH1; fatty acid alpha-hydroxylase; fatty acid hydroxylase domain containing 1; fatty acid hydroxylase domain-containing protein 1; FAXDC1; FLJ25287; SCS7; spastic paraplegia 35 (autosomal recessive); SPG35
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381674,712,969 - 74,774,820 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1674,712,955 - 74,774,831 (-)EnsemblGRCh38hg38GRCh38
GRCh371674,746,867 - 74,808,718 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361673,304,359 - 73,366,224 (-)NCBINCBI36Build 36hg18NCBI36
Build 341673,304,358 - 73,366,222NCBI
Celera1659,039,540 - 59,101,413 (-)NCBICelera
Cytogenetic Map16q23.1NCBI
HuRef1660,496,759 - 60,558,638 (-)NCBIHuRef
CHM1_11676,159,142 - 76,220,992 (-)NCBICHM1_1
T2T-CHM13v2.01680,759,709 - 80,821,550 (-)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)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-[3-(tert-butylsulfanyl)-1-(4-chlorobenzyl)-5-(propan-2-yl)-1H-indol-2-yl]-2,2-dimethylpropanoic acid  (EXP)
6-propyl-2-thiouracil  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
butanal  (EXP)
choline  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclosporin A  (ISO)
diarsenic trioxide  (EXP)
dimethylarsinous acid  (EXP)
dorsomorphin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
GW 4064  (ISO)
GW 7647  (EXP)
isotretinoin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
methimazole  (ISO)
methotrexate  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (EXP)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorooctanoic acid  (EXP)
phenobarbital  (EXP)
pirinixic acid  (ISO)
propanal  (EXP)
rac-lactic acid  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
triadimefon  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal periventricular white matter morphology  (IAGP)
Anarthria  (IAGP)
Ankle clonus  (IAGP)
Anxiety  (IAGP)
Ataxia  (IAGP)
Atrophy of the spinal cord  (IAGP)
Atrophy/Degeneration affecting the brainstem  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bipolar affective disorder  (IAGP)
Bowel incontinence  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Childhood onset  (IAGP)
Cognitive impairment  (IAGP)
Color vision test abnormality  (IAGP)
Corpus callosum atrophy  (IAGP)
Depression  (IAGP)
Difficulty walking  (IAGP)
Dysarthria  (IAGP)
Dysdiadochokinesis  (IAGP)
Dysmetria  (IAGP)
Dysmyelinating leukodystrophy  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Enuresis nocturna  (IAGP)
Expressive aphasia  (IAGP)
External ophthalmoplegia  (IAGP)
Eye of the tiger anomaly of globus pallidus  (IAGP)
Falls  (IAGP)
Focal-onset seizure  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frequent falls  (IAGP)
Generalized dystonia  (IAGP)
Horizontal nystagmus  (IAGP)
Hyperreflexia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Intellectual disability  (IAGP)
Juvenile onset  (IAGP)
Kyphosis  (IAGP)
Loss of ambulation  (IAGP)
Lower limb hypertonia  (IAGP)
Lower limb spasticity  (IAGP)
Mask-like facies  (IAGP)
Mental deterioration  (IAGP)
Neck muscle weakness  (IAGP)
Neurodegeneration  (IAGP)
Nystagmus  (IAGP)
Oculomotor apraxia  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Peripheral demyelination  (IAGP)
Peripheral neuropathy  (IAGP)
Pollakisuria  (IAGP)
Pontocerebellar atrophy  (IAGP)
Positional foot deformity  (IAGP)
Progressive  (IAGP)
Progressive extrapyramidal movement disorder  (IAGP)
Progressive gait ataxia  (IAGP)
Progressive spastic paraparesis  (IAGP)
Progressive spastic paraplegia  (IAGP)
Progressive spastic quadriplegia  (IAGP)
Seizure  (IAGP)
Slow decrease in visual acuity  (IAGP)
Spastic ataxia  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraparesis  (IAGP)
Strabismus  (IAGP)
Supranuclear gaze palsy  (IAGP)
Thin corpus callosum  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Urinary incontinence  (IAGP)
Urinary urgency  (IAGP)
Visual field defect  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:15337768   PMID:15863841   PMID:16344560   PMID:16713569   PMID:17355976   PMID:18463364   PMID:19068277   PMID:19834535   PMID:19844255   PMID:20104589   PMID:20301334   PMID:20301682  
PMID:20379614   PMID:21516116   PMID:21592092   PMID:21599921   PMID:21735565   PMID:21873635   PMID:22517924   PMID:22704260   PMID:22925154   PMID:23447832   PMID:23535410   PMID:23566484  
PMID:24299421   PMID:24359114   PMID:24623722   PMID:25086665   PMID:25291031   PMID:25383866   PMID:25416956   PMID:25496456   PMID:26638075   PMID:28298427   PMID:29423566   PMID:29438993  
PMID:30446360   PMID:30804502   PMID:31087769   PMID:31409741   PMID:32296183   PMID:32798015   PMID:32814053   PMID:33064010   PMID:33203703   PMID:33246395   PMID:33961781   PMID:36902339  
PMID:36949045   PMID:37410270   PMID:38306901  


Genomics

Comparative Map Data
FA2H
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381674,712,969 - 74,774,820 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1674,712,955 - 74,774,831 (-)EnsemblGRCh38hg38GRCh38
GRCh371674,746,867 - 74,808,718 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361673,304,359 - 73,366,224 (-)NCBINCBI36Build 36hg18NCBI36
Build 341673,304,358 - 73,366,222NCBI
Celera1659,039,540 - 59,101,413 (-)NCBICelera
Cytogenetic Map16q23.1NCBI
HuRef1660,496,759 - 60,558,638 (-)NCBIHuRef
CHM1_11676,159,142 - 76,220,992 (-)NCBICHM1_1
T2T-CHM13v2.01680,759,709 - 80,821,550 (-)NCBIT2T-CHM13v2.0
Fa2h
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398112,071,770 - 112,120,453 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8112,071,767 - 112,120,456 (-)EnsemblGRCm39 Ensembl
GRCm388111,345,138 - 111,393,821 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8111,345,135 - 111,393,824 (-)EnsemblGRCm38mm10GRCm38
MGSCv378113,869,038 - 113,917,721 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368114,231,814 - 114,280,488 (-)NCBIMGSCv36mm8
Celera8115,571,613 - 115,620,271 (-)NCBICelera
Cytogenetic Map8E1NCBI
cM Map857.98NCBI
Fa2h
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81956,222,240 - 56,273,480 (-)NCBIGRCr8
mRatBN7.21939,312,904 - 39,364,153 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1939,312,906 - 39,364,153 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1946,117,440 - 46,168,745 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01946,770,768 - 46,822,076 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01949,070,937 - 49,122,203 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01943,545,380 - 43,596,788 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1943,545,378 - 43,596,801 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01954,355,770 - 54,407,097 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41941,268,120 - 41,319,682 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11941,275,527 - 41,460,325 (-)NCBI
Celera1938,700,320 - 38,749,569 (-)NCBICelera
Cytogenetic Map19q12NCBI
Fa2h
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554842,726,362 - 2,775,903 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554842,726,496 - 2,775,763 (+)NCBIChiLan1.0ChiLan1.0
FA2H
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21884,427,208 - 84,488,814 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11690,349,280 - 90,410,924 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01655,278,769 - 55,340,332 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11674,632,161 - 74,693,710 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1674,632,179 - 74,693,710 (-)Ensemblpanpan1.1panPan2
FA2H
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1575,878,539 - 75,923,886 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl575,878,243 - 75,948,094 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha575,854,248 - 75,930,177 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0576,234,701 - 76,310,974 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl576,234,701 - 76,304,198 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1576,137,818 - 76,213,734 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0575,960,777 - 76,036,528 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0576,452,798 - 76,528,826 (+)NCBIUU_Cfam_GSD_1.0
Fa2h
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934935,913,903 - 35,964,152 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647523,624,969 - 23,675,235 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647523,625,023 - 23,675,211 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FA2H
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl612,855,421 - 12,910,818 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1612,855,330 - 12,910,821 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2612,797,906 - 12,853,541 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FA2H
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1552,930,289 - 52,993,751 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl552,930,833 - 52,992,499 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604715,810,775 - 15,873,476 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fa2h
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474612,125,506 - 12,186,671 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474612,125,709 - 12,186,254 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FA2H
324 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024306.5(FA2H):c.43G>A (p.Glu15Lys) single nucleotide variant not specified [RCV000516871] Chr16:74774713 [GRCh38]
Chr16:74808611 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.159_176del (p.Arg53_Ile58del) deletion Hereditary spastic paraplegia 35 [RCV000023856]|Spastic paraplegia [RCV002513206]|not provided [RCV002293414] Chr16:74774580..74774597 [GRCh38]
Chr16:74808478..74808495 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.510_511del (p.Tyr170_Ser171delinsTer) deletion Hereditary spastic paraplegia 35 [RCV000023858]|Spastic paraplegia [RCV002513208] Chr16:74726327..74726328 [GRCh38]
Chr16:74760225..74760226 [GRCh37]
Chr16:16q23.1		 pathogenic
NG_017070.1:g.(39810_52446)_(66877_?)del deletion Hereditary spastic paraplegia 35 [RCV000024322] Chr16:74712955..74727386 [GRCh38]
Chr16:74746853..74761284 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.786+1G>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV000001098]|not provided [RCV002512633] Chr16:74718987 [GRCh38]
Chr16:74752885 [GRCh37]
Chr16:16q23.1		 pathogenic|likely pathogenic
NM_024306.5(FA2H):c.130C>T (p.Pro44Ser) single nucleotide variant Hereditary spastic paraplegia 35 [RCV003155224]|not provided [RCV000520744] Chr16:74774626 [GRCh38]
Chr16:74808524 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NM_024306.5(FA2H):c.678G>C (p.Trp226Cys) single nucleotide variant not provided [RCV000517814] Chr16:74719096 [GRCh38]
Chr16:74752994 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000023855]|not provided [RCV002509169]|not specified [RCV001797590] Chr16:74719071 [GRCh38]
Chr16:74752969 [GRCh37]
Chr16:16q23.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000023857]|Neurodegeneration with brain iron accumulation [RCV003317044]|Spastic paraplegia [RCV002513207]|not provided [RCV000483483] Chr16:74727290 [GRCh38]
Chr16:74761188 [GRCh37]
Chr16:16q23.1		 pathogenic|uncertain significance
NM_024306.5(FA2H):c.707T>C (p.Phe236Ser) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000024321] Chr16:74719067 [GRCh38]
Chr16:74752965 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000001099] Chr16:74774653 [GRCh38]
Chr16:74808551 [GRCh37]
Chr16:16q23.1		 pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1 copy number loss See cases [RCV000053356] Chr16:69918076..76723348 [GRCh38]
Chr16:69951979..76757245 [GRCh37]
Chr16:68509480..75314746 [NCBI36]
Chr16:16q22.1-23.1		 pathogenic
GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1 copy number loss See cases [RCV000053357] Chr16:73049467..82576326 [GRCh38]
Chr16:73083366..82609931 [GRCh37]
Chr16:71640867..81167432 [NCBI36]
Chr16:16q22.3-23.3		 pathogenic
GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3 copy number gain See cases [RCV000053868] Chr16:73917167..75319927 [GRCh38]
Chr16:73951066..75353825 [GRCh37]
Chr16:72508567..73911326 [NCBI36]
Chr16:16q22.3-23.1		 uncertain significance
GRCh38/hg38 16q23.1(chr16:74658508-75378014)x3 copy number gain See cases [RCV000053893] Chr16:74658508..75378014 [GRCh38]
Chr16:74692406..75411912 [GRCh37]
Chr16:73249907..73969413 [NCBI36]
Chr16:16q23.1		 uncertain significance
NM_024306.4(FA2H):c.281A>T (p.Glu94Val) single nucleotide variant Malignant melanoma [RCV000071226] Chr16:74740105 [GRCh38]
Chr16:74774003 [GRCh37]
Chr16:73331504 [NCBI36]
Chr16:16q23.1		 not provided
NM_024306.5(FA2H):c.1039+8T>C single nucleotide variant Hereditary spastic paraplegia 35 [RCV000318189]|Hereditary spastic paraplegia [RCV001847682]|Spastic paraplegia [RCV000462259]|not specified [RCV000117008] Chr16:74716339 [GRCh38]
Chr16:74750237 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.229C>T (p.Leu77=) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000355693]|Hereditary spastic paraplegia [RCV001847683]|Spastic paraplegia [RCV001510043]|not specified [RCV000117009] Chr16:74774527 [GRCh38]
Chr16:74808425 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000398455]|Hereditary spastic paraplegia [RCV001847684]|Spastic paraplegia [RCV000469053]|not specified [RCV000117010] Chr16:74740097 [GRCh38]
Chr16:74773995 [GRCh37]
Chr16:16q23.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024306.5(FA2H):c.847G>A (p.Val283Ile) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000350126]|Spastic paraplegia [RCV001085749]|not provided [RCV000840125]|not specified [RCV000117011] Chr16:74716539 [GRCh38]
Chr16:74750437 [GRCh37]
Chr16:16q23.1		 benign|likely benign|uncertain significance
NM_024306.5(FA2H):c.879C>T (p.Pro293=) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000292801]|Hereditary spastic paraplegia [RCV001847685]|Spastic paraplegia [RCV001510042]|not specified [RCV000117012] Chr16:74716507 [GRCh38]
Chr16:74750405 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.888A>G (p.Val296=) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000389521]|Hereditary spastic paraplegia [RCV001847686]|Spastic paraplegia [RCV001521975]|not specified [RCV000117013] Chr16:74716498 [GRCh38]
Chr16:74750396 [GRCh37]
Chr16:16q23.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024306.5(FA2H):c.933T>C (p.Tyr311=) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000332680]|Hereditary spastic paraplegia [RCV001847687]|Spastic paraplegia [RCV000477048]|not specified [RCV000117014] Chr16:74716453 [GRCh38]
Chr16:74750351 [GRCh37]
Chr16:16q23.1		 benign|likely benign
NM_024306.5(FA2H):c.565C>T (p.Arg189Ter) single nucleotide variant Hereditary spastic paraplegia 35 [RCV002470808]|Hereditary spastic paraplegia [RCV001847847]|Inborn genetic diseases [RCV000190745] Chr16:74726273 [GRCh38]
Chr16:74760171 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.379C>T (p.Arg127Ter) single nucleotide variant not provided [RCV001310337] Chr16:74727371 [GRCh38]
Chr16:74761269 [GRCh37]
Chr16:16q23.1		 pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 copy number loss See cases [RCV000133814] Chr16:70414573..84908120 [GRCh38]
Chr16:70448476..84941726 [GRCh37]
Chr16:69005977..83499227 [NCBI36]
Chr16:16q22.1-24.1		 pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1(chr16:74207339-74862823)x1 copy number loss See cases [RCV000139276] Chr16:74207339..74862823 [GRCh38]
Chr16:74241238..74896721 [GRCh37]
Chr16:72798739..73454222 [NCBI36]
Chr16:16q23.1		 uncertain significance
GRCh38/hg38 16q23.1(chr16:74688486-75377736)x3 copy number gain See cases [RCV000141922] Chr16:74688486..75377736 [GRCh38]
Chr16:74722384..75411634 [GRCh37]
Chr16:73279885..73969135 [NCBI36]
Chr16:16q23.1		 uncertain significance
GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3 copy number gain See cases [RCV000142038] Chr16:69053457..83274681 [GRCh38]
Chr16:69087360..83308286 [GRCh37]
Chr16:67644861..81865787 [NCBI36]
Chr16:16q22.1-23.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q23.1(chr16:74693100-74959509)x1 copy number loss See cases [RCV000143393] Chr16:74693100..74959509 [GRCh38]
Chr16:74726998..74993407 [GRCh37]
Chr16:73284499..73550908 [NCBI36]
Chr16:16q23.1		 likely benign|uncertain significance
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3		 pathogenic
NM_024306.5(FA2H):c.517C>T (p.Pro173Ser) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000199368] Chr16:74726321 [GRCh38]
Chr16:74760219 [GRCh37]
Chr16:16q23.1		 pathogenic|likely pathogenic
NM_024306.5(FA2H):c.*6C>G single nucleotide variant not specified [RCV000193605] Chr16:74714184 [GRCh38]
Chr16:74748082 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.762C>T (p.Phe254=) single nucleotide variant not provided [RCV000940305]|not specified [RCV000194854] Chr16:74719012 [GRCh38]
Chr16:74752910 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3		 uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001115913]|Hereditary spastic paraplegia [RCV001848010]|Spastic paraplegia [RCV001084384]|not provided [RCV000514460]|not specified [RCV000419332] Chr16:74740048 [GRCh38]
Chr16:74773946 [GRCh37]
Chr16:16q23.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024306.5(FA2H):c.691T>C (p.Tyr231His) single nucleotide variant Hereditary spastic paraplegia [RCV001848012]|Spastic paraplegia [RCV000229293]|not provided [RCV000522066]|not specified [RCV003230464] Chr16:74719083 [GRCh38]
Chr16:74752981 [GRCh37]
Chr16:16q23.1		 likely pathogenic|uncertain significance
NM_024306.5(FA2H):c.401T>G (p.Val134Gly) single nucleotide variant Spastic paraplegia [RCV000231608] Chr16:74727349 [GRCh38]
Chr16:74761247 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.821_822del (p.Pro274fs) deletion Spastic paraplegia [RCV000225829] Chr16:74716564..74716565 [GRCh38]
Chr16:74750462..74750463 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.75_77del (p.Cys25del) deletion Spastic paraplegia [RCV000233207] Chr16:74774679..74774681 [GRCh38]
Chr16:74808577..74808579 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.649G>A (p.Gly217Arg) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001391536]|Hereditary spastic paraplegia [RCV001848011]|Spastic paraplegia [RCV000226521]|not provided [RCV003480565]|not specified [RCV001731541] Chr16:74719125 [GRCh38]
Chr16:74753023 [GRCh37]
Chr16:16q23.1		 pathogenic|uncertain significance
NM_024306.5(FA2H):c.102C>G (p.Tyr34Ter) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000578281] Chr16:74774654 [GRCh38]
Chr16:74808552 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.*62G>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV000266399] Chr16:74714128 [GRCh38]
Chr16:74748026 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*34G>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV000302904]|not provided [RCV001541455] Chr16:74714156 [GRCh38]
Chr16:74748054 [GRCh37]
Chr16:16q23.1		 benign|likely benign|uncertain significance
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000303256]|Hereditary spastic paraplegia [RCV001848665]|Inborn genetic diseases [RCV002522890]|Spastic paraplegia [RCV001246003]|not provided [RCV001171919]|not specified [RCV002222486] Chr16:74774524 [GRCh38]
Chr16:74808422 [GRCh37]
Chr16:16q23.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024306.5(FA2H):c.*783G>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV000269443] Chr16:74713407 [GRCh38]
Chr16:74747305 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.570C>A (p.Thr190=) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000291663]|Spastic paraplegia [RCV000633114]|not provided [RCV001697665] Chr16:74726268 [GRCh38]
Chr16:74760166 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.1030C>G (p.Gln344Glu) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000261199]|Spastic paraplegia [RCV002522889]|not provided [RCV003480599] Chr16:74716356 [GRCh38]
Chr16:74750254 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*404T>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV000296817] Chr16:74713786 [GRCh38]
Chr16:74747684 [GRCh37]
Chr16:16q23.1		 benign|likely benign
NM_024306.5(FA2H):c.*1131A>C single nucleotide variant Hereditary spastic paraplegia 35 [RCV000296831] Chr16:74713059 [GRCh38]
Chr16:74746957 [GRCh37]
Chr16:16q23.1		 benign|likely benign
NM_024306.5(FA2H):c.1087A>C (p.Thr363Pro) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000262979]|Hereditary spastic paraplegia [RCV001848662]|Spastic paraplegia [RCV000863033]|not provided [RCV002056508] Chr16:74714222 [GRCh38]
Chr16:74748120 [GRCh37]
Chr16:16q23.1		 benign|likely benign
NM_024306.5(FA2H):c.*520G>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV000281435] Chr16:74713670 [GRCh38]
Chr16:74747568 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.540G>T (p.Val180=) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000344071]|Spastic paraplegia [RCV000865404] Chr16:74726298 [GRCh38]
Chr16:74760196 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.*1129G>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV000370307] Chr16:74713061 [GRCh38]
Chr16:74746959 [GRCh37]
Chr16:16q23.1		 benign|likely benign
NM_024306.5(FA2H):c.537G>A (p.Leu179=) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000395355]|Hereditary spastic paraplegia [RCV001848664]|Spastic paraplegia [RCV001084328]|not provided [RCV000711623]|not specified [RCV001727685] Chr16:74726301 [GRCh38]
Chr16:74760199 [GRCh37]
Chr16:16q23.1		 benign|likely benign|uncertain significance
NM_024306.5(FA2H):c.*302G>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV000396063] Chr16:74713888 [GRCh38]
Chr16:74747786 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*887T>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV000272456] Chr16:74713303 [GRCh38]
Chr16:74747201 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*281C>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV000348117]|not provided [RCV001538237] Chr16:74713909 [GRCh38]
Chr16:74747807 [GRCh37]
Chr16:16q23.1		 benign|likely benign
NM_024306.5(FA2H):c.*447C>T single nucleotide variant Hereditary spastic paraplegia 35 [RCV000372564] Chr16:74713743 [GRCh38]
Chr16:74747641 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.1032G>C (p.Gln344His) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000372851] Chr16:74716354 [GRCh38]
Chr16:74750252 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.429G>A (p.Glu143=) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000304423] Chr16:74727321 [GRCh38]
Chr16:74761219 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*243G>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV000306369]|not provided [RCV001672526] Chr16:74713947 [GRCh38]
Chr16:74747845 [GRCh37]
Chr16:16q23.1		 benign|likely benign
NM_024306.5(FA2H):c.*821C>G single nucleotide variant Hereditary spastic paraplegia 35 [RCV000328142] Chr16:74713369 [GRCh38]
Chr16:74747267 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.*1188A>G single nucleotide variant Hereditary spastic paraplegia 35 [RCV000399023] Chr16:74713002 [GRCh38]
Chr16:74746900 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*1064C>G single nucleotide variant Hereditary spastic paraplegia 35 [RCV000399189] Chr16:74713126 [GRCh38]
Chr16:74747024 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.*646T>G single nucleotide variant Hereditary spastic paraplegia 35 [RCV000320849] Chr16:74713544 [GRCh38]
Chr16:74747442 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*391C>T single nucleotide variant Hereditary spastic paraplegia 35 [RCV000351459] Chr16:74713799 [GRCh38]
Chr16:74747697 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*637G>C single nucleotide variant Hereditary spastic paraplegia 35 [RCV000375512] Chr16:74713553 [GRCh38]
Chr16:74747451 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.4(FA2H):c.-74C>T single nucleotide variant Hereditary spastic paraplegia 35 [RCV000263230] Chr16:74774829 [GRCh38]
Chr16:74808727 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*653G>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV000379041] Chr16:74713537 [GRCh38]
Chr16:74747435 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*283G>C single nucleotide variant Hereditary spastic paraplegia 35 [RCV000311971]|not provided [RCV001618561] Chr16:74713907 [GRCh38]
Chr16:74747805 [GRCh37]
Chr16:16q23.1		 benign|likely benign
NM_024306.5(FA2H):c.*958C>T single nucleotide variant Hereditary spastic paraplegia 35 [RCV000312219] Chr16:74713232 [GRCh38]
Chr16:74747130 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.1113G>C (p.Thr371=) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000357673]|Spastic paraplegia [RCV001086914]|not provided [RCV000827111]|not specified [RCV000517834] Chr16:74714196 [GRCh38]
Chr16:74748094 [GRCh37]
Chr16:16q23.1		 benign|likely benign|uncertain significance
NM_024306.5(FA2H):c.795C>T (p.Phe265=) single nucleotide variant Spastic paraplegia [RCV002519201]|not provided [RCV000357576] Chr16:74716591 [GRCh38]
Chr16:74750489 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*652C>T single nucleotide variant Hereditary spastic paraplegia 35 [RCV000265847] Chr16:74713538 [GRCh38]
Chr16:74747436 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000383560]|Hereditary spastic paraplegia [RCV001848663]|Spastic paraplegia [RCV001080196]|not provided [RCV000416009]|not specified [RCV002307485] Chr16:74716542 [GRCh38]
Chr16:74750440 [GRCh37]
Chr16:16q23.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024306.5(FA2H):c.*506C>G single nucleotide variant Hereditary spastic paraplegia 35 [RCV000336455] Chr16:74713684 [GRCh38]
Chr16:74747582 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*150C>T single nucleotide variant Hereditary spastic paraplegia 35 [RCV000360954] Chr16:74714040 [GRCh38]
Chr16:74747938 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*813C>T single nucleotide variant Hereditary spastic paraplegia 35 [RCV000364166] Chr16:74713377 [GRCh38]
Chr16:74747275 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.925G>A (p.Val309Ile) single nucleotide variant Hereditary spastic paraplegia [RCV001848887]|Spastic paraplegia [RCV000633034]|not provided [RCV001310336]|not specified [RCV000518709] Chr16:74716461 [GRCh38]
Chr16:74750359 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.*253A>G single nucleotide variant Hereditary spastic paraplegia 35 [RCV000400802] Chr16:74713937 [GRCh38]
Chr16:74747835 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*911C>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV000367039] Chr16:74713279 [GRCh38]
Chr16:74747177 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.4(FA2H):c.-84G>C single nucleotide variant Hereditary spastic paraplegia 35 [RCV000262423]|not provided [RCV000839866] Chr16:74774839 [GRCh38]
Chr16:74808737 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.*772C>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV000324538] Chr16:74713418 [GRCh38]
Chr16:74747316 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.385C>T (p.Pro129Ser) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000342958] Chr16:74727365 [GRCh38]
Chr16:74761263 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.786+6C>T single nucleotide variant Hereditary spastic paraplegia 35 [RCV001120850]|Spastic paraplegia [RCV001368482] Chr16:74718982 [GRCh38]
Chr16:74752880 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.699C>T (p.Ile233=) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001120852] Chr16:74719075 [GRCh38]
Chr16:74752973 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.2T>C (p.Met1Thr) single nucleotide variant Spastic paraplegia [RCV000539908] Chr16:74774754 [GRCh38]
Chr16:74808652 [GRCh37]
Chr16:16q23.1		 pathogenic|uncertain significance
NM_024306.5(FA2H):c.205C>T (p.His69Tyr) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000660639]|Spastic paraplegia [RCV000529889]|not provided [RCV000416271] Chr16:74774551 [GRCh38]
Chr16:74808449 [GRCh37]
Chr16:16q23.1		 pathogenic|uncertain significance
NM_024306.5(FA2H):c.139G>A (p.Glu47Lys) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001336096]|Spastic paraplegia [RCV001337611]|not provided [RCV000413571] Chr16:74774617 [GRCh38]
Chr16:74808515 [GRCh37]
Chr16:16q23.1		 likely pathogenic|uncertain significance
NC_000016.9:g.(?_74750291)_(74762108_?)del deletion Spastic paraplegia [RCV000536213] Chr16:74750291..74762108 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.782A>G (p.His261Arg) single nucleotide variant Spastic paraplegia [RCV001861420]|not provided [RCV000414400] Chr16:74718992 [GRCh38]
Chr16:74752890 [GRCh37]
Chr16:16q23.1		 likely pathogenic|uncertain significance
GRCh37/hg19 16q23.1(chr16:74530491-74754442)x1 copy number loss See cases [RCV000446489] Chr16:74530491..74754442 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001115914]|Hereditary spastic paraplegia [RCV001848762]|Inborn genetic diseases [RCV002524896]|Spastic paraplegia [RCV000633072]|not provided [RCV001712218]|not specified [RCV001821170] Chr16:74740049 [GRCh38]
Chr16:74773947 [GRCh37]
Chr16:16q23.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024306.5(FA2H):c.1039+16T>G single nucleotide variant Spastic paraplegia [RCV001521974]|not provided [RCV001579809]|not specified [RCV000426304] Chr16:74716331 [GRCh38]
Chr16:74750229 [GRCh37]
Chr16:16q23.1		 benign|likely benign
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu) single nucleotide variant Inborn genetic diseases [RCV000622305]|Spastic paraplegia [RCV000466731]|not provided [RCV002248676] Chr16:74727307 [GRCh38]
Chr16:74761205 [GRCh37]
Chr16:16q23.1		 pathogenic|likely pathogenic|uncertain significance
NM_024306.5(FA2H):c.94C>G (p.Arg32Gly) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001117374]|Hereditary spastic paraplegia [RCV001848804]|Spastic paraplegia [RCV000474966] Chr16:74774662 [GRCh38]
Chr16:74808560 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q23.1(chr16:74150909-77077326)x1 copy number loss See cases [RCV000512133] Chr16:74150909..77077326 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_024306.5(FA2H):c.131C>A (p.Pro44Gln) single nucleotide variant Neurodegeneration with brain iron accumulation [RCV002265790]|Spastic paraplegia [RCV000555976] Chr16:74774625 [GRCh38]
Chr16:74808523 [GRCh37]
Chr16:16q23.1		 pathogenic|likely pathogenic|uncertain significance
NM_024306.5(FA2H):c.66C>G (p.Ala22=) single nucleotide variant Spastic paraplegia [RCV000863659]|not provided [RCV002263827]|not specified [RCV000616585] Chr16:74774690 [GRCh38]
Chr16:74808588 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.771C>T (p.His257=) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001120851]|Hereditary spastic paraplegia [RCV001848996]|Spastic paraplegia [RCV002066530]|not specified [RCV000611990] Chr16:74719003 [GRCh38]
Chr16:74752901 [GRCh37]
Chr16:16q23.1		 benign|likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
NM_024306.5(FA2H):c.1055C>T (p.Thr352Ile) single nucleotide variant Spastic paraplegia [RCV000633060] Chr16:74714254 [GRCh38]
Chr16:74748152 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001117253]|Hereditary spastic paraplegia [RCV001848878]|Spastic paraplegia [RCV000541410]|not provided [RCV000513492] Chr16:74714197 [GRCh38]
Chr16:74748095 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.772G>A (p.Gly258Ser) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000660385]|Spastic paraplegia [RCV001313033] Chr16:74719002 [GRCh38]
Chr16:74752900 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3		 pathogenic
NM_024306.5(FA2H):c.35C>T (p.Ser12Leu) single nucleotide variant Spastic paraplegia [RCV002532916]|not provided [RCV000711622] Chr16:74774721 [GRCh38]
Chr16:74808619 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.133G>T (p.Gly45Trp) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000708595] Chr16:74774623 [GRCh38]
Chr16:74808521 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NM_024306.5(FA2H):c.173T>C (p.Ile58Thr) single nucleotide variant Spastic paraplegia [RCV000706495] Chr16:74774583 [GRCh38]
Chr16:74808481 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.685_687del (p.Ile229del) deletion Spastic paraplegia [RCV000706323] Chr16:74719087..74719089 [GRCh38]
Chr16:74752985..74752987 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.709C>G (p.Leu237Val) single nucleotide variant Spastic paraplegia [RCV003104194] Chr16:74719065 [GRCh38]
Chr16:74752963 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.614-57G>A single nucleotide variant not provided [RCV001547922] Chr16:74719217 [GRCh38]
Chr16:74753115 [GRCh37]
Chr16:16q23.1		 likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_024306.5(FA2H):c.787-59T>C single nucleotide variant not provided [RCV001680294] Chr16:74716658 [GRCh38]
Chr16:74750556 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.131del (p.Pro44fs) deletion Hereditary spastic paraplegia 35 [RCV001580616] Chr16:74774625 [GRCh38]
Chr16:74808523 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.786+238G>A single nucleotide variant not provided [RCV001583796] Chr16:74718750 [GRCh38]
Chr16:74752648 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.207C>G (p.His69Gln) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000761510] Chr16:74774549 [GRCh38]
Chr16:74808447 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.949T>G (p.Tyr317Asp) single nucleotide variant Cerebellar atrophy [RCV001003615] Chr16:74716437 [GRCh38]
Chr16:74750335 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NM_024306.5(FA2H):c.266A>T (p.Gln89Leu) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001117373]|not provided [RCV003117764] Chr16:74774490 [GRCh38]
Chr16:74808388 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.786+181G>C single nucleotide variant not provided [RCV001575912] Chr16:74718807 [GRCh38]
Chr16:74752705 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.787-158G>A single nucleotide variant not provided [RCV001612676] Chr16:74716757 [GRCh38]
Chr16:74750655 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.786+65C>G single nucleotide variant not provided [RCV001568824] Chr16:74718923 [GRCh38]
Chr16:74752821 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.444G>A (p.Pro148=) single nucleotide variant not provided [RCV000900958] Chr16:74727306 [GRCh38]
Chr16:74761204 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.905C>T (p.Ala302Val) single nucleotide variant Hereditary spastic paraplegia [RCV001847084]|Spastic paraplegia [RCV000870724] Chr16:74716481 [GRCh38]
Chr16:74750379 [GRCh37]
Chr16:16q23.1		 benign|uncertain significance
NM_024306.5(FA2H):c.648C>T (p.Pro216=) single nucleotide variant Spastic paraplegia [RCV001419711] Chr16:74719126 [GRCh38]
Chr16:74753024 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.798C>T (p.Asp266=) single nucleotide variant FA2H-related condition [RCV003908237]|Hereditary spastic paraplegia 35 [RCV001120848]|Spastic paraplegia [RCV000868080] Chr16:74716588 [GRCh38]
Chr16:74750486 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.529G>A (p.Val177Met) single nucleotide variant Inborn genetic diseases [RCV003380840]|Spastic paraplegia [RCV001067394] Chr16:74726309 [GRCh38]
Chr16:74760207 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.590G>A (p.Arg197Gln) single nucleotide variant Spastic paraplegia [RCV000807623] Chr16:74726248 [GRCh38]
Chr16:74760146 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.271-8C>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV001117372]|Spastic paraplegia [RCV001088862]|not provided [RCV000862757] Chr16:74740123 [GRCh38]
Chr16:74774021 [GRCh37]
Chr16:16q23.1		 benign|likely benign|uncertain significance
NM_024306.5(FA2H):c.614-7C>G single nucleotide variant Spastic paraplegia [RCV001404056] Chr16:74719167 [GRCh38]
Chr16:74753065 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.969G>A (p.Pro323=) single nucleotide variant Spastic paraplegia [RCV001483229] Chr16:74716417 [GRCh38]
Chr16:74750315 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.786+7G>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV001120849]|Spastic paraplegia [RCV002539009] Chr16:74718981 [GRCh38]
Chr16:74752879 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.585C>T (p.Asn195=) single nucleotide variant Spastic paraplegia [RCV002062241] Chr16:74726253 [GRCh38]
Chr16:74760151 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.831C>T (p.Ala277=) single nucleotide variant FA2H-related condition [RCV003955578]|Spastic paraplegia [RCV000861899] Chr16:74716555 [GRCh38]
Chr16:74750453 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.600G>A (p.Thr200=) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001115912]|Spastic paraplegia [RCV001455441] Chr16:74726238 [GRCh38]
Chr16:74760136 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.426T>C (p.Asp142=) single nucleotide variant not provided [RCV000877663] Chr16:74727324 [GRCh38]
Chr16:74761222 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.198G>C (p.Pro66=) single nucleotide variant Spastic paraplegia [RCV000866770] Chr16:74774558 [GRCh38]
Chr16:74808456 [GRCh37]
Chr16:16q23.1		 likely benign
NC_000016.10:g.74774839C>G single nucleotide variant not provided [RCV000839866] Chr16:74808737 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.614-21G>A single nucleotide variant not provided [RCV000839870] Chr16:74719181 [GRCh38]
Chr16:74753079 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.718A>G (p.Met240Val) single nucleotide variant Spastic paraplegia [RCV000805135] Chr16:74719056 [GRCh38]
Chr16:74752954 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.934G>T (p.Asp312Tyr) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000786060] Chr16:74716452 [GRCh38]
Chr16:74750350 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NM_024306.5(FA2H):c.340_363+8del deletion Hereditary spastic paraplegia 35 [RCV000989633]|Spastic paraplegia [RCV002549731] Chr16:74740015..74740046 [GRCh38]
Chr16:74773913..74773944 [GRCh37]
Chr16:16q23.1		 pathogenic|likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787385] Chr16:74465138..75107923 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q23.1(chr16:74466959-74966742)x3 copy number gain not provided [RCV000846036] Chr16:74466959..74966742 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*1074G>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV001117162] Chr16:74713116 [GRCh38]
Chr16:74747014 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.910G>A (p.Gly304Ser) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000786061] Chr16:74716476 [GRCh38]
Chr16:74750374 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NM_024306.5(FA2H):c.1101C>G (p.Pro367=) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001118889] Chr16:74714208 [GRCh38]
Chr16:74748106 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q23.1(chr16:74594664-74807466)x3 copy number gain not provided [RCV001006806] Chr16:74594664..74807466 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.50A>G (p.Gln17Arg) single nucleotide variant Spastic paraplegia [RCV000811246] Chr16:74774706 [GRCh38]
Chr16:74808604 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*185G>T single nucleotide variant Hereditary spastic paraplegia 35 [RCV001117250] Chr16:74714005 [GRCh38]
Chr16:74747903 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*165G>A single nucleotide variant Hereditary spastic paraplegia 35 [RCV001117251] Chr16:74714025 [GRCh38]
Chr16:74747923 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.620C>T (p.Thr207Met) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001542494]|Hereditary spastic paraplegia [RCV001195534]|Spastic paraplegia [RCV001859178] Chr16:74719154 [GRCh38]
Chr16:74753052 [GRCh37]
Chr16:16q23.1		 pathogenic|likely pathogenic
GRCh37/hg19 16q23.1(chr16:74356233-75432089)x1 copy number loss not provided [RCV001006805] Chr16:74356233..75432089 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1 copy number loss not provided [RCV000847084] Chr16:72677179..77439111 [GRCh37]
Chr16:16q22.2-23.1		 uncertain significance
NM_024306.5(FA2H):c.806G>A (p.Arg269His) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001250165]|Neurodegeneration with brain iron accumulation [RCV002282488]|Spastic paraplegia [RCV001219726]|not provided [RCV001819910] Chr16:74716580 [GRCh38]
Chr16:74750478 [GRCh37]
Chr16:16q23.1		 pathogenic|likely pathogenic|uncertain significance
NM_024306.5(FA2H):c.461G>T (p.Arg154Leu) single nucleotide variant Spastic paraplegia [RCV001220494] Chr16:74727289 [GRCh38]
Chr16:74761187 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.319G>A (p.Asp107Asn) single nucleotide variant Spastic paraplegia [RCV001227155] Chr16:74740067 [GRCh38]
Chr16:74773965 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.965C>T (p.Ser322Leu) single nucleotide variant Hereditary spastic paraplegia 35 [RCV002471051]|Spastic ataxia [RCV001644956]|Spastic paraplegia [RCV001235650]|not specified [RCV003155377] Chr16:74716421 [GRCh38]
Chr16:74750319 [GRCh37]
Chr16:16q23.1		 likely pathogenic|uncertain significance
NM_024306.5(FA2H):c.190G>C (p.Gly64Arg) single nucleotide variant Spastic paraplegia [RCV001236135] Chr16:74774566 [GRCh38]
Chr16:74808464 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.1027C>T (p.His343Tyr) single nucleotide variant Spastic paraplegia [RCV001242404] Chr16:74716359 [GRCh38]
Chr16:74750257 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.824T>A (p.Val275Glu) single nucleotide variant Inborn genetic diseases [RCV003246160] Chr16:74716562 [GRCh38]
Chr16:74750460 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.160_169del (p.Ala54fs) microsatellite Hereditary spastic paraplegia 35 [RCV000989634] Chr16:74774587..74774596 [GRCh38]
Chr16:74808485..74808494 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NM_024306.5(FA2H):c.1119A>T (p.Ter373Cys) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000995543]|Spastic paraplegia [RCV002550680]|not provided [RCV002068722] Chr16:74714190 [GRCh38]
Chr16:74748088 [GRCh37]
Chr16:16q23.1		 likely pathogenic|uncertain significance
NM_024306.5(FA2H):c.968C>T (p.Pro323Leu) single nucleotide variant Hereditary spastic paraplegia 35 [RCV000995544]|Spastic paraplegia [RCV003588705] Chr16:74716418 [GRCh38]
Chr16:74750316 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.295G>A (p.Ala99Thr) single nucleotide variant not provided [RCV000996343] Chr16:74740091 [GRCh38]
Chr16:74773989 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.70dup (p.Ala24fs) duplication not provided [RCV001008148] Chr16:74774685..74774686 [GRCh38]
Chr16:74808583..74808584 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NM_024306.5(FA2H):c.1039+11G>A single nucleotide variant Spastic paraplegia [RCV003106336] Chr16:74716336 [GRCh38]
Chr16:74750234 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.364-280G>A single nucleotide variant not provided [RCV001575255] Chr16:74727666 [GRCh38]
Chr16:74761564 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.271-285G>A single nucleotide variant not provided [RCV001549653] Chr16:74740400 [GRCh38]
Chr16:74774298 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.506+275G>T single nucleotide variant not provided [RCV001720869] Chr16:74726969 [GRCh38]
Chr16:74760867 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.1040-178A>G single nucleotide variant not provided [RCV001639715] Chr16:74714447 [GRCh38]
Chr16:74748345 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.786+45G>C single nucleotide variant not provided [RCV001613969] Chr16:74718943 [GRCh38]
Chr16:74752841 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.786+281C>G single nucleotide variant not provided [RCV001559460] Chr16:74718707 [GRCh38]
Chr16:74752605 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.507-64del deletion not provided [RCV001617559] Chr16:74726395 [GRCh38]
Chr16:74760293 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.924C>T (p.Tyr308=) single nucleotide variant FA2H-related condition [RCV003895761]|Spastic paraplegia [RCV003750833] Chr16:74716462 [GRCh38]
Chr16:74750360 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.444G>T (p.Pro148=) single nucleotide variant Spastic paraplegia [RCV001499138] Chr16:74727306 [GRCh38]
Chr16:74761204 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.1060T>C (p.Leu354=) single nucleotide variant Spastic paraplegia [RCV000953804]|not provided [RCV003424495] Chr16:74714249 [GRCh38]
Chr16:74748147 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.1083C>T (p.Thr361=) single nucleotide variant not provided [RCV000962545] Chr16:74714226 [GRCh38]
Chr16:74748124 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.932A>G (p.Tyr311Cys) single nucleotide variant not provided [RCV001760602] Chr16:74716454 [GRCh38]
Chr16:74750352 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.106C>G (p.Leu36Val) single nucleotide variant Spastic paraplegia [RCV001238724] Chr16:74774650 [GRCh38]
Chr16:74808548 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.1101_1102del (p.His368fs) deletion Spastic paraplegia [RCV001203714] Chr16:74714207..74714208 [GRCh38]
Chr16:74748105..74748106 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.166del (p.Gln56fs) deletion Spastic paraplegia [RCV001245364] Chr16:74774590 [GRCh38]
Chr16:74808488 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.614-64G>A single nucleotide variant not provided [RCV001557029] Chr16:74719224 [GRCh38]
Chr16:74753122 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.507-92A>G single nucleotide variant not provided [RCV001717580] Chr16:74726423 [GRCh38]
Chr16:74760321 [GRCh37]
Chr16:16q23.1		 benign
NC_000016.10:g.74773969_74776493del deletion Hereditary spastic paraplegia 35 [RCV003233341] Chr16:74773966..74776490 [GRCh38]
Chr16:74807864..74810388 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NM_024306.5(FA2H):c.787-233G>A single nucleotide variant not provided [RCV001575903] Chr16:74716832 [GRCh38]
Chr16:74750730 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.363+149C>T single nucleotide variant not provided [RCV001550304] Chr16:74739874 [GRCh38]
Chr16:74773772 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.1039+103G>T single nucleotide variant not provided [RCV001595836] Chr16:74716244 [GRCh38]
Chr16:74750142 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.*885G>T single nucleotide variant Hereditary spastic paraplegia 35 [RCV001118793] Chr16:74713305 [GRCh38]
Chr16:74747203 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.895A>G (p.Thr299Ala) single nucleotide variant not provided [RCV001171918] Chr16:74716491 [GRCh38]
Chr16:74750389 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.1039+242G>A single nucleotide variant not provided [RCV001642146] Chr16:74716105 [GRCh38]
Chr16:74750003 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.80T>A (p.Val27Asp) single nucleotide variant Spastic paraplegia [RCV001057856] Chr16:74774676 [GRCh38]
Chr16:74808574 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.787-189A>G single nucleotide variant not provided [RCV001614033] Chr16:74716788 [GRCh38]
Chr16:74750686 [GRCh37]
Chr16:16q23.1		 benign
NC_000016.10:g.74774921C>T single nucleotide variant not provided [RCV001685575] Chr16:74774921 [GRCh38]
Chr16:74808819 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.*59C>G single nucleotide variant Hereditary spastic paraplegia 35 [RCV001117252] Chr16:74714131 [GRCh38]
Chr16:74748029 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.*505G>T single nucleotide variant Hereditary spastic paraplegia 35 [RCV001120754] Chr16:74713685 [GRCh38]
Chr16:74747583 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.893G>A (p.Gly298Asp) single nucleotide variant Spastic paraplegia [RCV001070389] Chr16:74716493 [GRCh38]
Chr16:74750391 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.810G>A (p.Leu270=) single nucleotide variant Spastic paraplegia [RCV001051036] Chr16:74716576 [GRCh38]
Chr16:74750474 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.589C>T (p.Arg197Ter) single nucleotide variant Hereditary spastic paraplegia 35 [RCV003223418]|Spastic paraplegia [RCV001205551]|not provided [RCV002249795] Chr16:74726249 [GRCh38]
Chr16:74760147 [GRCh37]
Chr16:16q23.1		 pathogenic|likely pathogenic
NM_024306.5(FA2H):c.426_428del (p.Asp142del) deletion Spastic paraplegia [RCV001219004] Chr16:74727322..74727324 [GRCh38]
Chr16:74761220..74761222 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.461G>A (p.Arg154His) single nucleotide variant Spastic paraplegia [RCV001035603] Chr16:74727289 [GRCh38]
Chr16:74761187 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.701A>C (p.His234Pro) single nucleotide variant Spastic paraplegia [RCV001235649] Chr16:74719073 [GRCh38]
Chr16:74752971 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_024306.5(FA2H):c.613+5T>C single nucleotide variant not provided [RCV003480195] Chr16:74726220 [GRCh38]
Chr16:74760118 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.674T>C (p.Leu225Pro) single nucleotide variant Hereditary spastic paraplegia 35 [RCV002284305] Chr16:74719100 [GRCh38]
Chr16:74752998 [GRCh37]
Chr16:16q23.1		 pathogenic
GRCh37/hg19 16q23.1(chr16:74726998-74997287)x1 copy number loss not provided [RCV001258651] Chr16:74726998..74997287 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q23.1(chr16:74760123-74761284)x4 copy number gain not provided [RCV001311471] Chr16:74760123..74761284 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.1028A>G (p.His343Arg) single nucleotide variant Spastic paraplegia [RCV001303296] Chr16:74716358 [GRCh38]
Chr16:74750256 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.20C>T (p.Pro7Leu) single nucleotide variant not provided [RCV001289424] Chr16:74774736 [GRCh38]
Chr16:74808634 [GRCh37]
Chr16:16q23.1		 uncertain significance
NC_000016.9:g.74808495_74808504dupCCTGGCCCGC microsatellite Spastic paraplegia [RCV001387013] Chr16:74774586..74774587 [GRCh38]
Chr16:74808484..74808485 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.941_945del (p.Thr314fs) deletion Hereditary spastic paraplegia 35 [RCV001780261]|Spastic paraplegia [RCV001345650] Chr16:74716441..74716445 [GRCh38]
Chr16:74750339..74750343 [GRCh37]
Chr16:16q23.1		 likely pathogenic|uncertain significance
NM_024306.5(FA2H):c.554G>A (p.Trp185Ter) single nucleotide variant Spastic paraplegia 35 [RCV001336097] Chr16:74726284 [GRCh38]
Chr16:74760182 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.1036T>G (p.Ser346Ala) single nucleotide variant Spastic paraplegia [RCV001366367] Chr16:74716350 [GRCh38]
Chr16:74750248 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.202A>G (p.Arg68Gly) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001329950]|Spastic paraplegia [RCV001373220]|not provided [RCV001724297] Chr16:74774554 [GRCh38]
Chr16:74808452 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.822del (p.Val275fs) deletion Hereditary spastic paraplegia 35 [RCV001391537] Chr16:74716564 [GRCh38]
Chr16:74750462 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.190G>T (p.Gly64Trp) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001391535] Chr16:74774566 [GRCh38]
Chr16:74808464 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.198G>A (p.Pro66=) single nucleotide variant Spastic paraplegia [RCV001394648] Chr16:74774558 [GRCh38]
Chr16:74808456 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.162G>T (p.Ala54=) single nucleotide variant Spastic paraplegia [RCV001483951] Chr16:74774594 [GRCh38]
Chr16:74808492 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.531G>A (p.Val177=) single nucleotide variant Spastic paraplegia [RCV001472404] Chr16:74726307 [GRCh38]
Chr16:74760205 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.423C>T (p.Tyr141=) single nucleotide variant Spastic paraplegia [RCV001424282]|not provided [RCV003405655] Chr16:74727327 [GRCh38]
Chr16:74761225 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.733G>A (p.Asp245Asn) single nucleotide variant Inborn genetic diseases [RCV002559329]|Spastic paraplegia [RCV001446118] Chr16:74719041 [GRCh38]
Chr16:74752939 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.798C>G (p.Asp266Glu) single nucleotide variant Hereditary spastic paraplegia 35 [RCV001542492] Chr16:74716588 [GRCh38]
Chr16:74750486 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NM_024306.5(FA2H):c.782dup (p.His261fs) duplication Hereditary spastic paraplegia 35 [RCV001542493] Chr16:74718991..74718992 [GRCh38]
Chr16:74752889..74752890 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NM_024306.5(FA2H):c.21del (p.Ala8fs) deletion Spastic paraplegia [RCV001387014] Chr16:74774735 [GRCh38]
Chr16:74808633 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.846C>T (p.Gly282=) single nucleotide variant Spastic paraplegia [RCV001481754] Chr16:74716540 [GRCh38]
Chr16:74750438 [GRCh37]
Chr16:16q23.1		 likely benign
NC_000016.10:g.74774996G>A single nucleotide variant not provided [RCV001645556] Chr16:74774996 [GRCh38]
Chr16:74808894 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.82C>T (p.Arg28Cys) single nucleotide variant Spastic paraplegia [RCV001866227]|not provided [RCV001588619] Chr16:74774674 [GRCh38]
Chr16:74808572 [GRCh37]
Chr16:16q23.1		 uncertain significance
NC_000016.10:g.74774853G>A single nucleotide variant not provided [RCV001616387] Chr16:74774853 [GRCh38]
Chr16:74808751 [GRCh37]
Chr16:16q23.1		 benign
NC_000016.10:g.74774863C>G single nucleotide variant not provided [RCV001590520] Chr16:74774863 [GRCh38]
Chr16:74808761 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.633C>T (p.Pro211=) single nucleotide variant Spastic paraplegia [RCV001464366] Chr16:74719141 [GRCh38]
Chr16:74753039 [GRCh37]
Chr16:16q23.1		 likely benign
GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1 copy number loss See cases [RCV002285074] Chr16:68971067..74823560 [GRCh37]
Chr16:16q22.1-23.1		 pathogenic
NM_024306.5(FA2H):c.115_121del (p.Phe39fs) deletion Hereditary spastic paraplegia 35 [RCV002246191] Chr16:74774635..74774641 [GRCh38]
Chr16:74808533..74808539 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NM_024306.5(FA2H):c.506+1G>C single nucleotide variant Hereditary spastic paraplegia 35 [RCV002249972]|Spastic paraplegia [RCV003094027] Chr16:74727243 [GRCh38]
Chr16:74761141 [GRCh37]
Chr16:16q23.1		 pathogenic|likely pathogenic
NM_024306.5(FA2H):c.364-1G>A single nucleotide variant See cases [RCV002253077] Chr16:74727387 [GRCh38]
Chr16:74761285 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NM_024306.5(FA2H):c.67G>C (p.Gly23Arg) single nucleotide variant not provided [RCV001726998] Chr16:74774689 [GRCh38]
Chr16:74808587 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.821C>A (p.Pro274His) single nucleotide variant Hereditary spastic paraplegia 35 [RCV002246190] Chr16:74716565 [GRCh38]
Chr16:74750463 [GRCh37]
Chr16:16q23.1		 uncertain significance
NC_000016.9:g.(?_74748068)_(75513746_?)del deletion Macular corneal dystrophy [RCV001949688] Chr16:74748068..75513746 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.957C>G (p.His319Gln) single nucleotide variant Spastic paraplegia [RCV001864280] Chr16:74716429 [GRCh38]
Chr16:74750327 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.874C>G (p.Leu292Val) single nucleotide variant Spastic paraplegia [RCV001964023] Chr16:74716512 [GRCh38]
Chr16:74750410 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.364-3C>T single nucleotide variant Spastic paraplegia [RCV002008661] Chr16:74727389 [GRCh38]
Chr16:74761287 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.632C>T (p.Pro211Leu) single nucleotide variant Spastic paraplegia [RCV001874985] Chr16:74719142 [GRCh38]
Chr16:74753040 [GRCh37]
Chr16:16q23.1		 uncertain significance
NC_000016.9:g.74808537G>T single nucleotide variant Spastic paraplegia [RCV001854843] Chr16:74774639 [GRCh38]
Chr16:74808537 [GRCh37]
Chr16:16q23.1		 pathogenic|likely pathogenic
NM_024306.5(FA2H):c.672C>A (p.Phe224Leu) single nucleotide variant Spastic paraplegia [RCV001893523] Chr16:74719102 [GRCh38]
Chr16:74753000 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.335C>T (p.Pro112Leu) single nucleotide variant Spastic paraplegia [RCV001911853] Chr16:74740051 [GRCh38]
Chr16:74773949 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q23.1(chr16:74150909-74848930)x3 copy number gain not provided [RCV001829192] Chr16:74150909..74848930 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q23.1(chr16:74530491-74754442) copy number loss not specified [RCV002052536] Chr16:74530491..74754442 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.227G>A (p.Trp76Ter) single nucleotide variant Hereditary spastic paraplegia [RCV001848434] Chr16:74774529 [GRCh38]
Chr16:74808427 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NM_024306.5(FA2H):c.549C>T (p.Leu183=) single nucleotide variant Hereditary spastic paraplegia [RCV001848435] Chr16:74726289 [GRCh38]
Chr16:74760187 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.956A>G (p.His319Arg) single nucleotide variant Hereditary spastic paraplegia [RCV001848438] Chr16:74716430 [GRCh38]
Chr16:74750328 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.133G>A (p.Gly45Arg) single nucleotide variant Hereditary spastic paraplegia [RCV001848433] Chr16:74774623 [GRCh38]
Chr16:74808521 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.599C>T (p.Thr200Met) single nucleotide variant Hereditary spastic paraplegia [RCV001848436] Chr16:74726239 [GRCh38]
Chr16:74760137 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.635A>G (p.Lys212Arg) single nucleotide variant Spastic paraplegia [RCV001991834] Chr16:74719139 [GRCh38]
Chr16:74753037 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.83G>A (p.Arg28His) single nucleotide variant Spastic paraplegia [RCV002001093] Chr16:74774673 [GRCh38]
Chr16:74808571 [GRCh37]
Chr16:16q23.1		 uncertain significance
NC_000016.9:g.(?_74748088)_(74808653_?)del deletion Spastic paraplegia [RCV001958766] Chr16:74748088..74808653 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.64G>A (p.Ala22Thr) single nucleotide variant Spastic paraplegia [RCV002026899] Chr16:74774692 [GRCh38]
Chr16:74808590 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.589C>G (p.Arg197Gly) single nucleotide variant Spastic paraplegia [RCV001898001] Chr16:74726249 [GRCh38]
Chr16:74760147 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.17C>T (p.Pro6Leu) single nucleotide variant Spastic paraplegia [RCV001903147] Chr16:74774739 [GRCh38]
Chr16:74808637 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.268C>G (p.Gln90Glu) single nucleotide variant Spastic paraplegia [RCV001976003] Chr16:74774488 [GRCh38]
Chr16:74808386 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.1A>G (p.Met1Val) single nucleotide variant Spastic paraplegia [RCV001880791] Chr16:74774755 [GRCh38]
Chr16:74808653 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.496A>T (p.Lys166Ter) single nucleotide variant Spastic paraplegia [RCV001936694] Chr16:74727254 [GRCh38]
Chr16:74761152 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.646C>G (p.Pro216Ala) single nucleotide variant Spastic paraplegia [RCV002047538] Chr16:74719128 [GRCh38]
Chr16:74753026 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.21C>A (p.Pro7=) single nucleotide variant Spastic paraplegia [RCV001936201] Chr16:74774735 [GRCh38]
Chr16:74808633 [GRCh37]
Chr16:16q23.1		 benign|uncertain significance
NM_024306.5(FA2H):c.794T>G (p.Phe265Cys) single nucleotide variant Spastic paraplegia [RCV001880273] Chr16:74716592 [GRCh38]
Chr16:74750490 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.763G>A (p.Val255Ile) single nucleotide variant Spastic paraplegia [RCV002017826] Chr16:74719011 [GRCh38]
Chr16:74752909 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.240C>G (p.Tyr80Ter) single nucleotide variant Spastic paraplegia [RCV001974657] Chr16:74774516 [GRCh38]
Chr16:74808414 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.471C>G (p.His157Gln) single nucleotide variant Spastic paraplegia [RCV002047605] Chr16:74727279 [GRCh38]
Chr16:74761177 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.799G>A (p.Gly267Ser) single nucleotide variant Spastic paraplegia [RCV001925539] Chr16:74716587 [GRCh38]
Chr16:74750485 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.1084C>T (p.Leu362Phe) single nucleotide variant Spastic paraplegia [RCV001980187] Chr16:74714225 [GRCh38]
Chr16:74748123 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.805C>T (p.Arg269Cys) single nucleotide variant Spastic paraplegia [RCV001959784] Chr16:74716581 [GRCh38]
Chr16:74750479 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.1093G>C (p.Glu365Gln) single nucleotide variant Inborn genetic diseases [RCV002545505]|Spastic paraplegia [RCV002009483] Chr16:74714216 [GRCh38]
Chr16:74748114 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.113G>A (p.Ser38Asn) single nucleotide variant Spastic paraplegia [RCV001901031] Chr16:74774643 [GRCh38]
Chr16:74808541 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.176G>C (p.Ser59Thr) single nucleotide variant Spastic paraplegia [RCV001918005] Chr16:74774580 [GRCh38]
Chr16:74808478 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.148C>T (p.Leu50=) single nucleotide variant Spastic paraplegia [RCV002145485] Chr16:74774608 [GRCh38]
Chr16:74808506 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.786+9G>A single nucleotide variant Spastic paraplegia [RCV002089704] Chr16:74718979 [GRCh38]
Chr16:74752877 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.96C>T (p.Arg32=) single nucleotide variant Spastic paraplegia [RCV002107546] Chr16:74774660 [GRCh38]
Chr16:74808558 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.271-12T>A single nucleotide variant Spastic paraplegia [RCV002087818] Chr16:74740127 [GRCh38]
Chr16:74774025 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.834C>T (p.Ser278=) single nucleotide variant Spastic paraplegia [RCV002108021] Chr16:74716552 [GRCh38]
Chr16:74750450 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.285C>T (p.Asn95=) single nucleotide variant Spastic paraplegia [RCV002210407] Chr16:74740101 [GRCh38]
Chr16:74773999 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.1086C>T (p.Leu362=) single nucleotide variant Spastic paraplegia [RCV002131119] Chr16:74714223 [GRCh38]
Chr16:74748121 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.507-19C>A single nucleotide variant Spastic paraplegia [RCV002174463] Chr16:74726350 [GRCh38]
Chr16:74760248 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.451A>G (p.Arg151Gly) single nucleotide variant Spastic paraplegia [RCV003101233]|not provided [RCV002211361] Chr16:74727299 [GRCh38]
Chr16:74761197 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.507-16G>C single nucleotide variant Spastic paraplegia [RCV002075443] Chr16:74726347 [GRCh38]
Chr16:74760245 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.786+17C>T single nucleotide variant Spastic paraplegia [RCV002187802] Chr16:74718971 [GRCh38]
Chr16:74752869 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.613+14C>G single nucleotide variant Spastic paraplegia [RCV002188578] Chr16:74726211 [GRCh38]
Chr16:74760109 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.90G>A (p.Gly30=) single nucleotide variant Spastic paraplegia [RCV002163311] Chr16:74774666 [GRCh38]
Chr16:74808564 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.849C>T (p.Val283=) single nucleotide variant Spastic paraplegia [RCV002136443] Chr16:74716537 [GRCh38]
Chr16:74750435 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.271-12T>G single nucleotide variant Spastic paraplegia [RCV002201047] Chr16:74740127 [GRCh38]
Chr16:74774025 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.846C>G (p.Gly282=) single nucleotide variant Spastic paraplegia [RCV002143954] Chr16:74716540 [GRCh38]
Chr16:74750438 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.270+8C>T single nucleotide variant Spastic paraplegia [RCV002103581] Chr16:74774478 [GRCh38]
Chr16:74808376 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.675C>G (p.Leu225=) single nucleotide variant Spastic paraplegia [RCV002183037] Chr16:74719099 [GRCh38]
Chr16:74752997 [GRCh37]
Chr16:16q23.1		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NM_024306.5(FA2H):c.1071C>T (p.Tyr357=) single nucleotide variant Spastic paraplegia [RCV002119965] Chr16:74714238 [GRCh38]
Chr16:74748136 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.363+17G>T single nucleotide variant Spastic paraplegia [RCV002136840] Chr16:74740006 [GRCh38]
Chr16:74773904 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.790C>T (p.Pro264Ser) single nucleotide variant Spastic paraplegia [RCV003112979] Chr16:74716596 [GRCh38]
Chr16:74750494 [GRCh37]
Chr16:16q23.1		 uncertain significance
NC_000016.9:g.(?_74808364)_(74808653_?)del deletion Spastic paraplegia [RCV003122644] Chr16:74808364..74808653 [GRCh37]
Chr16:16q23.1		 pathogenic
NC_000016.9:g.(?_74485954)_(75339100_?)dup duplication Spastic paraplegia [RCV003122645] Chr16:74485954..75339100 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.675C>T (p.Leu225=) single nucleotide variant Spastic paraplegia [RCV003118841]|not provided [RCV003883956] Chr16:74719099 [GRCh38]
Chr16:74752997 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.1009G>A (p.Val337Ile) single nucleotide variant Inborn genetic diseases [RCV003095875]|not provided [RCV002261532] Chr16:74716377 [GRCh38]
Chr16:74750275 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.347T>A (p.Val116Glu) single nucleotide variant Spastic paraplegia [RCV002296960] Chr16:74740039 [GRCh38]
Chr16:74773937 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3		 likely pathogenic
NM_024306.5(FA2H):c.760T>G (p.Phe254Val) single nucleotide variant not provided [RCV002267476] Chr16:74719014 [GRCh38]
Chr16:74752912 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.75C>G (p.Cys25Trp) single nucleotide variant Hereditary spastic paraplegia 35 [RCV002289137] Chr16:74774681 [GRCh38]
Chr16:74808579 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.662T>G (p.Leu221Arg) single nucleotide variant Spastic paraplegia [RCV002297461] Chr16:74719112 [GRCh38]
Chr16:74753010 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.786G>A (p.Lys262=) single nucleotide variant Hereditary spastic paraplegia 35 [RCV002468706] Chr16:74718988 [GRCh38]
Chr16:74752886 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.892G>A (p.Gly298Ser) single nucleotide variant not provided [RCV002475068] Chr16:74716494 [GRCh38]
Chr16:74750392 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4 copy number gain not provided [RCV002475008] Chr16:73673334..76105189 [GRCh37]
Chr16:16q22.3-23.1		 uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1 copy number loss not provided [RCV002475774] Chr16:73673334..78137887 [GRCh37]
Chr16:16q22.3-23.1		 uncertain significance
NM_024306.5(FA2H):c.844G>C (p.Gly282Arg) single nucleotide variant Hereditary spastic paraplegia 35 [RCV002510707] Chr16:74716542 [GRCh38]
Chr16:74750440 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.1040-5T>G single nucleotide variant Spastic paraplegia [RCV003074871] Chr16:74714274 [GRCh38]
Chr16:74748172 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_024306.5(FA2H):c.364-4G>A single nucleotide variant Spastic paraplegia [RCV002948241] Chr16:74727390 [GRCh38]
Chr16:74761288 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.1008C>T (p.His336=) single nucleotide variant Spastic paraplegia [RCV003034222] Chr16:74716378 [GRCh38]
Chr16:74750276 [GRCh37]
Chr16:16q23.1		 likely benign
GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1 copy number loss not provided [RCV002475848] Chr16:73858079..75855162 [GRCh37]
Chr16:16q22.3-23.1		 uncertain significance
NM_024306.5(FA2H):c.317C>G (p.Thr106Arg) single nucleotide variant Spastic paraplegia [RCV002613647] Chr16:74740069 [GRCh38]
Chr16:74773967 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.906G>A (p.Ala302=) single nucleotide variant Spastic paraplegia [RCV003012306] Chr16:74716480 [GRCh38]
Chr16:74750378 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.669A>C (p.Thr223=) single nucleotide variant Spastic paraplegia [RCV002885480] Chr16:74719105 [GRCh38]
Chr16:74753003 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.448A>G (p.Thr150Ala) single nucleotide variant Spastic paraplegia [RCV002913207] Chr16:74727302 [GRCh38]
Chr16:74761200 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.1104C>T (p.His368=) single nucleotide variant Spastic paraplegia [RCV002800552] Chr16:74714205 [GRCh38]
Chr16:74748103 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.786+15G>A single nucleotide variant Spastic paraplegia [RCV002800346] Chr16:74718973 [GRCh38]
Chr16:74752871 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.325G>T (p.Ala109Ser) single nucleotide variant Spastic paraplegia [RCV002593392] Chr16:74740061 [GRCh38]
Chr16:74773959 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.363+3A>G single nucleotide variant Spastic paraplegia [RCV002761470] Chr16:74740020 [GRCh38]
Chr16:74773918 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.624G>A (p.Val208=) single nucleotide variant Spastic paraplegia [RCV002952916] Chr16:74719150 [GRCh38]
Chr16:74753048 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.244G>C (p.Val82Leu) single nucleotide variant Spastic paraplegia [RCV003077766] Chr16:74774512 [GRCh38]
Chr16:74808410 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.586G>A (p.Val196Ile) single nucleotide variant Inborn genetic diseases [RCV002692479] Chr16:74726252 [GRCh38]
Chr16:74760150 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.77G>C (p.Trp26Ser) single nucleotide variant Spastic paraplegia [RCV003077758] Chr16:74774679 [GRCh38]
Chr16:74808577 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.621G>A (p.Thr207=) single nucleotide variant Spastic paraplegia [RCV002979384] Chr16:74719153 [GRCh38]
Chr16:74753051 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.622G>T (p.Val208Leu) single nucleotide variant Inborn genetic diseases [RCV002925660] Chr16:74719152 [GRCh38]
Chr16:74753050 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.1039+14T>G single nucleotide variant Spastic paraplegia [RCV002927171] Chr16:74716333 [GRCh38]
Chr16:74750231 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.178G>A (p.Ala60Thr) single nucleotide variant Inborn genetic diseases [RCV002799344] Chr16:74774578 [GRCh38]
Chr16:74808476 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.820C>A (p.Pro274Thr) single nucleotide variant Spastic paraplegia [RCV002596275] Chr16:74716566 [GRCh38]
Chr16:74750464 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.682C>T (p.Leu228Phe) single nucleotide variant Spastic paraplegia [RCV003057394] Chr16:74719092 [GRCh38]
Chr16:74752990 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.506+10T>G single nucleotide variant Spastic paraplegia [RCV002791261] Chr16:74727234 [GRCh38]
Chr16:74761132 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.376T>G (p.Trp126Gly) single nucleotide variant Inborn genetic diseases [RCV002929291] Chr16:74727374 [GRCh38]
Chr16:74761272 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.506G>A (p.Trp169Ter) single nucleotide variant Spastic paraplegia [RCV002710881] Chr16:74727244 [GRCh38]
Chr16:74761142 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.126C>A (p.His42Gln) single nucleotide variant Spastic paraplegia [RCV002790670] Chr16:74774630 [GRCh38]
Chr16:74808528 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.36G>T (p.Ser12=) single nucleotide variant Spastic paraplegia [RCV003081996] Chr16:74774720 [GRCh38]
Chr16:74808618 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.21C>G (p.Pro7=) single nucleotide variant Spastic paraplegia [RCV003005268] Chr16:74774735 [GRCh38]
Chr16:74808633 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.117C>G (p.Phe39Leu) single nucleotide variant Spastic paraplegia [RCV002624250] Chr16:74774639 [GRCh38]
Chr16:74808537 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.216C>T (p.Asn72=) single nucleotide variant Spastic paraplegia [RCV002720786] Chr16:74774540 [GRCh38]
Chr16:74808438 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.270+18C>A single nucleotide variant Spastic paraplegia [RCV002600941] Chr16:74774468 [GRCh38]
Chr16:74808366 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.870C>T (p.Leu290=) single nucleotide variant Spastic paraplegia [RCV002672273] Chr16:74716516 [GRCh38]
Chr16:74750414 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.363+5C>A single nucleotide variant Inborn genetic diseases [RCV002836464]|Spastic paraplegia [RCV003750938] Chr16:74740018 [GRCh38]
Chr16:74773916 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.265C>T (p.Gln89Ter) single nucleotide variant Spastic paraplegia [RCV003064356] Chr16:74774491 [GRCh38]
Chr16:74808389 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.888del (p.Gly298fs) deletion Spastic paraplegia [RCV003065571] Chr16:74716498 [GRCh38]
Chr16:74750396 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.1040-18G>A single nucleotide variant Spastic paraplegia [RCV003089591] Chr16:74714287 [GRCh38]
Chr16:74748185 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.1113G>A (p.Thr371=) single nucleotide variant Spastic paraplegia [RCV002899375] Chr16:74714196 [GRCh38]
Chr16:74748094 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.38C>T (p.Pro13Leu) single nucleotide variant Spastic paraplegia [RCV002600006] Chr16:74774718 [GRCh38]
Chr16:74808616 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.939G>T (p.Met313Ile) single nucleotide variant Spastic paraplegia [RCV002628998] Chr16:74716447 [GRCh38]
Chr16:74750345 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.820C>G (p.Pro274Ala) single nucleotide variant Spastic paraplegia [RCV003087691] Chr16:74716566 [GRCh38]
Chr16:74750464 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.10G>T (p.Ala4Ser) single nucleotide variant Spastic paraplegia [RCV002579120] Chr16:74774746 [GRCh38]
Chr16:74808644 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.134G>C (p.Gly45Ala) single nucleotide variant Inborn genetic diseases [RCV002832608] Chr16:74774622 [GRCh38]
Chr16:74808520 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.970C>T (p.His324Tyr) single nucleotide variant Spastic paraplegia [RCV003065214] Chr16:74716416 [GRCh38]
Chr16:74750314 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.803C>T (p.Ser268Phe) single nucleotide variant Spastic paraplegia [RCV002628388] Chr16:74716583 [GRCh38]
Chr16:74750481 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.271-14T>C single nucleotide variant Spastic paraplegia [RCV003011039] Chr16:74740129 [GRCh38]
Chr16:74774027 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.813C>G (p.Val271=) single nucleotide variant Spastic paraplegia [RCV002653137] Chr16:74716573 [GRCh38]
Chr16:74750471 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.776A>G (p.Gln259Arg) single nucleotide variant Spastic paraplegia [RCV002676867] Chr16:74718998 [GRCh38]
Chr16:74752896 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.786+12G>A single nucleotide variant Spastic paraplegia [RCV002943496] Chr16:74718976 [GRCh38]
Chr16:74752874 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.648C>G (p.Pro216=) single nucleotide variant Spastic paraplegia [RCV002633432] Chr16:74719126 [GRCh38]
Chr16:74753024 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.921C>T (p.Gly307=) single nucleotide variant Spastic paraplegia [RCV002607332] Chr16:74716465 [GRCh38]
Chr16:74750363 [GRCh37]
Chr16:16q23.1		 benign
NM_024306.5(FA2H):c.867G>C (p.Gln289His) single nucleotide variant Spastic paraplegia [RCV003050825] Chr16:74716519 [GRCh38]
Chr16:74750417 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.271-106C>T single nucleotide variant Hereditary spastic paraplegia 35 [RCV003330142] Chr16:74740221 [GRCh38]
Chr16:74774119 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.716A>C (p.His239Pro) single nucleotide variant Hereditary spastic paraplegia 35 [RCV003340959] Chr16:74719058 [GRCh38]
Chr16:74752956 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.126C>G (p.His42Gln) single nucleotide variant Inborn genetic diseases [RCV003369934] Chr16:74774630 [GRCh38]
Chr16:74808528 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.363+2T>C single nucleotide variant Hereditary spastic paraplegia 35 [RCV003448934] Chr16:74740021 [GRCh38]
Chr16:74773919 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NM_024306.5(FA2H):c.201C>G (p.His67Gln) single nucleotide variant Hereditary spastic paraplegia 35 [RCV003388737] Chr16:74774555 [GRCh38]
Chr16:74808453 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3 copy number gain not provided [RCV003485121] Chr16:70607067..81561138 [GRCh37]
Chr16:16q22.1-23.2		 pathogenic
GRCh37/hg19 16q23.1(chr16:74741456-75085898)x3 copy number gain not provided [RCV003485124] Chr16:74741456..75085898 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.722A>C (p.Lys241Thr) single nucleotide variant not provided [RCV003480194] Chr16:74719052 [GRCh38]
Chr16:74752950 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.659T>A (p.Met220Lys) single nucleotide variant Hereditary spastic paraplegia 35 [RCV003388881] Chr16:74719115 [GRCh38]
Chr16:74753013 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.785A>C (p.Lys262Thr) single nucleotide variant Hereditary spastic paraplegia 35 [RCV003388183] Chr16:74718989 [GRCh38]
Chr16:74752887 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NM_024306.5(FA2H):c.786+694_786+695del microsatellite not provided [RCV003419453] Chr16:74718293..74718294 [GRCh38]
Chr16:74752191..74752192 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.911dup (p.Leu305fs) duplication Hereditary spastic paraplegia 35 [RCV003405002] Chr16:74716474..74716475 [GRCh38]
Chr16:74750372..74750373 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.726C>A (p.Pro242=) single nucleotide variant not provided [RCV003426842] Chr16:74719048 [GRCh38]
Chr16:74752946 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.817C>T (p.Pro273Ser) single nucleotide variant Hereditary spastic paraplegia 35 [RCV003486075] Chr16:74716569 [GRCh38]
Chr16:74750467 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.1039+18C>T single nucleotide variant Spastic paraplegia [RCV003751801] Chr16:74716329 [GRCh38]
Chr16:74750227 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.977G>T (p.Gly326Val) single nucleotide variant Spastic paraplegia [RCV003751030] Chr16:74716409 [GRCh38]
Chr16:74750307 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.503_506del (p.Val168fs) deletion Spastic paraplegia [RCV003751332] Chr16:74727244..74727247 [GRCh38]
Chr16:74761142..74761145 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.367C>T (p.Leu123=) single nucleotide variant Spastic paraplegia [RCV003750507] Chr16:74727383 [GRCh38]
Chr16:74761281 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.791C>T (p.Pro264Leu) single nucleotide variant Spastic paraplegia [RCV003752249] Chr16:74716595 [GRCh38]
Chr16:74750493 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_024306.5(FA2H):c.363+17G>A single nucleotide variant Spastic paraplegia [RCV003752325] Chr16:74740006 [GRCh38]
Chr16:74773904 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.969G>T (p.Pro323=) single nucleotide variant Spastic paraplegia [RCV003752337] Chr16:74716417 [GRCh38]
Chr16:74750315 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.162_171dup (p.Ile58fs) duplication Spastic paraplegia [RCV003750329] Chr16:74774584..74774585 [GRCh38]
Chr16:74808482..74808483 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.270+18C>T single nucleotide variant Spastic paraplegia [RCV003750343] Chr16:74774468 [GRCh38]
Chr16:74808366 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.786+8G>T single nucleotide variant Spastic paraplegia [RCV003851776] Chr16:74718980 [GRCh38]
Chr16:74752878 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.342C>T (p.Phe114=) single nucleotide variant Spastic paraplegia [RCV003751433] Chr16:74740044 [GRCh38]
Chr16:74773942 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.447G>T (p.Val149=) single nucleotide variant Spastic paraplegia [RCV003589039] Chr16:74727303 [GRCh38]
Chr16:74761201 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.843C>T (p.Ile281=) single nucleotide variant Spastic paraplegia [RCV003590517] Chr16:74716543 [GRCh38]
Chr16:74750441 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.159G>A (p.Arg53=) single nucleotide variant Spastic paraplegia [RCV003590394] Chr16:74774597 [GRCh38]
Chr16:74808495 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.786+16T>G single nucleotide variant Spastic paraplegia [RCV003589794] Chr16:74718972 [GRCh38]
Chr16:74752870 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.865C>T (p.Gln289Ter) single nucleotide variant Spastic paraplegia [RCV003590622] Chr16:74716521 [GRCh38]
Chr16:74750419 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_024306.5(FA2H):c.786+11C>T single nucleotide variant Spastic paraplegia [RCV003590874] Chr16:74718977 [GRCh38]
Chr16:74752875 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.364-9C>T single nucleotide variant Spastic paraplegia [RCV003589496] Chr16:74727395 [GRCh38]
Chr16:74761293 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.45G>A (p.Glu15=) single nucleotide variant Spastic paraplegia [RCV003589622] Chr16:74774711 [GRCh38]
Chr16:74808609 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.858G>A (p.Leu286=) single nucleotide variant Spastic paraplegia [RCV003591123] Chr16:74716528 [GRCh38]
Chr16:74750426 [GRCh37]
Chr16:16q23.1		 likely benign
GRCh37/hg19 16q22.3-23.1(chr16:74079694-75352818)x1 copy number loss not specified [RCV003987133] Chr16:74079694..75352818 [GRCh37]
Chr16:16q22.3-23.1		 pathogenic
NM_024306.5(FA2H):c.-1C>A single nucleotide variant FA2H-related condition [RCV003927189] Chr16:74774756 [GRCh38]
Chr16:74808654 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.966G>A (p.Ser322=) single nucleotide variant FA2H-related condition [RCV003969365] Chr16:74716420 [GRCh38]
Chr16:74750318 [GRCh37]
Chr16:16q23.1		 likely benign
NM_024306.5(FA2H):c.910G>T (p.Gly304Cys) single nucleotide variant Hereditary spastic paraplegia 35 [RCV003335824] Chr16:74716476 [GRCh38]
Chr16:74750374 [GRCh37]
Chr16:16q23.1		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2735
Count of miRNA genes:880
Interacting mature miRNAs:1056
Transcripts:ENST00000219368, ENST00000544337, ENST00000562145, ENST00000567683, ENST00000569949
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D16S2953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371674,746,904 - 74,747,061UniSTSGRCh37
Build 361673,304,405 - 73,304,562RGDNCBI36
Celera1659,039,591 - 59,039,748RGD
Cytogenetic Map16q23UniSTS
HuRef1660,496,810 - 60,496,967UniSTS
Whitehead-YAC Contig Map16 UniSTS
RH65017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371674,747,020 - 74,747,120UniSTSGRCh37
Build 361673,304,521 - 73,304,621RGDNCBI36
Celera1659,039,707 - 59,039,807RGD
Cytogenetic Map16q23UniSTS
HuRef1660,496,926 - 60,497,026UniSTS
D16S430E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371674,793,927 - 74,794,018UniSTSGRCh37
GRCh371674,793,927 - 74,795,478UniSTSGRCh37
Build 361673,351,428 - 73,351,519RGDNCBI36
Celera1659,086,612 - 59,088,162UniSTS
Celera1659,086,612 - 59,086,703RGD
Cytogenetic Map16q23UniSTS
HuRef1660,543,839 - 60,543,930UniSTS
HuRef1660,543,839 - 60,545,386UniSTS
SHGC-8141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371674,786,500 - 74,786,623UniSTSGRCh37
Build 361673,344,001 - 73,344,124RGDNCBI36
Celera1659,079,182 - 59,079,305RGD
Cytogenetic Map16q23UniSTS
HuRef1660,536,408 - 60,536,531UniSTS
TNG Radiation Hybrid Map1633746.0UniSTS
Stanford-G3 RH Map162856.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 758 3 23 37 101 22 1104 4 2160 90 81 128 20 6 857 1 2
Low 1262 274 1002 205 643 61 1217 666 1423 258 995 1363 152 1 160 520 2
Below cutoff 408 2454 610 310 1014 310 1633 1282 95 60 331 101 2 921 1137 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_017070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA857184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ278219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA890369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000219368   ⟹   ENSP00000219368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,712,969 - 74,774,820 (-)Ensembl
RefSeq Acc Id: ENST00000562145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,712,955 - 74,717,106 (-)Ensembl
RefSeq Acc Id: ENST00000567683   ⟹   ENSP00000455126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,713,598 - 74,774,831 (-)Ensembl
RefSeq Acc Id: ENST00000569949   ⟹   ENSP00000464576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,718,999 - 74,741,269 (-)Ensembl
RefSeq Acc Id: ENST00000618933   ⟹   ENSP00000479548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,725,956 - 74,726,247 (-)Ensembl
RefSeq Acc Id: NM_024306   ⟹   NP_077282
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,712,969 - 74,774,820 (-)NCBI
GRCh371674,746,853 - 74,808,729 (-)ENTREZGENE
Build 361673,304,359 - 73,366,224 (-)NCBI Archive
HuRef1660,496,759 - 60,558,638 (-)ENTREZGENE
CHM1_11676,159,142 - 76,220,992 (-)NCBI
T2T-CHM13v2.01680,759,709 - 80,821,550 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523317   ⟹   XP_011521619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,716,448 - 74,774,820 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523319   ⟹   XP_011521621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,712,969 - 74,744,234 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054313906   ⟹   XP_054169881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01680,763,188 - 80,821,550 (-)NCBI
RefSeq Acc Id: XM_054313907   ⟹   XP_054169882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01680,759,709 - 80,790,953 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_077282   ⟸   NM_024306
- UniProtKB: Q96DK1 (UniProtKB/Swiss-Prot),   O75213 (UniProtKB/Swiss-Prot),   B7Z8T6 (UniProtKB/Swiss-Prot),   Q9H1A5 (UniProtKB/Swiss-Prot),   Q7L5A8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011521621   ⟸   XM_011523319
- Peptide Label: isoform X2
- UniProtKB: B2RDE6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521619   ⟸   XM_011523317
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000464576   ⟸   ENST00000569949
RefSeq Acc Id: ENSP00000219368   ⟸   ENST00000219368
RefSeq Acc Id: ENSP00000479548   ⟸   ENST00000618933
RefSeq Acc Id: ENSP00000455126   ⟸   ENST00000567683
RefSeq Acc Id: XP_054169882   ⟸   XM_054313907
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054169881   ⟸   XM_054313906
- Peptide Label: isoform X1
Protein Domains
Cytochrome b5 heme-binding   Fatty acid hydroxylase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7L5A8-F1-model_v2 AlphaFold Q7L5A8 1-372 view protein structure

Promoters
RGD ID:6793101
Promoter ID:HG_KWN:24255
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC002FDD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361673,309,156 - 73,309,656 (-)MPROMDB
RGD ID:6793100
Promoter ID:HG_KWN:24256
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000269015
Position:
Human AssemblyChrPosition (strand)Source
Build 361673,365,944 - 73,366,444 (-)MPROMDB
RGD ID:7232831
Promoter ID:EPDNEW_H22161
Type:initiation region
Name:FA2H_1
Description:fatty acid 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
GRCh381674,774,820 - 74,774,880EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21197 AgrOrtholog
COSMIC FA2H COSMIC
Ensembl Genes ENSG00000103089 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000219368 ENTREZGENE
  ENST00000219368.8 UniProtKB/Swiss-Prot
  ENST00000567683.5 UniProtKB/TrEMBL
  ENST00000569949.1 UniProtKB/TrEMBL
  ENST00000618933.1 UniProtKB/TrEMBL
Gene3D-CATH 3.10.120.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103089 GTEx
HGNC ID HGNC:21197 ENTREZGENE
Human Proteome Map FA2H Human Proteome Map
InterPro Cyt_B5-like_heme/steroid-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_B5-like_heme/steroid_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_B5_heme-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fatty_acid_hydroxylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Scs7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79152 UniProtKB/Swiss-Prot
NCBI Gene 79152 ENTREZGENE
OMIM 611026 OMIM
PANTHER CYTOCHROME B5 UniProtKB/TrEMBL
  CYTOCHROME B5 HEME-BINDING DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  FATTY ACID 2-HYDROXYLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12863 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cyt-b5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FA_hydroxylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA145148065 PharmGKB
PIRSF IPC-B_HD UniProtKB/Swiss-Prot
PRINTS CYTOCHROMEB5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CYTOCHROME_B5_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYTOCHROME_B5_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Cyt-b5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55856 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WVM8_HUMAN UniProtKB/TrEMBL
  B2RDE6 ENTREZGENE, UniProtKB/TrEMBL
  B7Z8T6 ENTREZGENE
  FA2H_HUMAN UniProtKB/Swiss-Prot
  H3BP32_HUMAN UniProtKB/TrEMBL
  J3QS89_HUMAN UniProtKB/TrEMBL
  O75213 ENTREZGENE
  Q7L5A8 ENTREZGENE
  Q96DK1 ENTREZGENE
  Q9H1A5 ENTREZGENE
UniProt Secondary B7Z8T6 UniProtKB/Swiss-Prot
  O75213 UniProtKB/Swiss-Prot
  Q96DK1 UniProtKB/Swiss-Prot
  Q9H1A5 UniProtKB/Swiss-Prot