TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase) - Rat Genome Database

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Gene: TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase) Homo sapiens
Analyze
Symbol: TAFAZZIN
Name: tafazzin, phospholipid-lysophospholipid transacylase
RGD ID: 1351979
HGNC Page HGNC:11577
Description: Enables 1-acylglycerophosphocholine O-acyltransferase activity. Involved in several processes, including cardiolipin biosynthetic process; mitochondrion organization; and striated muscle tissue development. Located in mitochondrial inner membrane and mitochondrial outer membrane. Is active in mitochondrion. Implicated in Barth syndrome and dilated cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BTHS; CMD3A; EFE; EFE2; FLJ27390; G4.5; LVNCX; TAZ; Taz1; transcriptional coactivator with PDZ-binding motif; XAP-2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: TAZ (GeneID 6901) and WWTR1 (GeneID 25937) loci share the TAZ symbol/alias in common. TAZ is a widely used alternative name for the transcriptional coactivator with PDZ-binding motif (WWTR1) conflicting with the official symbol for tafazzin (TAZ). [19 Jun 2012]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,411,539 - 154,421,726 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX154,411,524 - 154,421,726 (+)EnsemblGRCh38hg38GRCh38
GRCh37X153,639,875 - 153,650,065 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,293,071 - 153,303,259 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X153,160,723 - 153,170,908NCBI
CeleraX153,800,935 - 153,811,119 (+)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX142,217,267 - 142,227,597 (+)NCBIHuRef
CHM1_1X153,551,525 - 153,561,710 (+)NCBICHM1_1
T2T-CHM13v2.0X152,648,045 - 152,658,233 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
3-Methylglutaconic aciduria  (IAGP)
Abnormal mitochondrial morphology  (IAGP)
Abnormality of neutrophils  (IAGP)
Arrhythmia  (IAGP)
Autism  (IAGP)
Broad forehead  (IAGP)
Cardiomyopathy  (IAGP)
Congestive heart failure  (IAGP)
Cyclic neutropenia  (IAGP)
Decreased circulating antibody concentration  (IAGP)
Deeply set eye  (IAGP)
Dilated cardiomyopathy  (IAGP)
Edema  (IAGP)
Elevated monolysocardiolipin/cardiolipin ratio  (IAGP)
EMG abnormality  (IAGP)
Endocardial fibroelastosis  (IAGP)
Exercise intolerance  (IAGP)
Exertional dyspnea  (IAGP)
Failure to thrive  (IAGP)
Fair hair  (IAGP)
Fatigue  (IAGP)
Full cheeks  (IAGP)
Gait disturbance  (IAGP)
Global developmental delay  (IAGP)
Gowers sign  (IAGP)
Granulocytopenia  (IAGP)
Growth delay  (IAGP)
High forehead  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypochromic microcytic anemia  (IAGP)
Increased left ventricular end-diastolic volume  (IAGP)
Infantile onset  (IAGP)
Intermittent lactic acidemia  (IAGP)
Left ventricular noncompaction  (IAGP)
Left ventricular noncompaction cardiomyopathy  (IAGP)
Left ventricular systolic dysfunction  (IAGP)
Lipoatrophy  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Motor delay  (IAGP)
Myopathic facies  (IAGP)
Myopathy  (IAGP)
Neutropenia  (IAGP)
Orthopnea  (IAGP)
Pointed chin  (IAGP)
Recurrent bronchitis  (IAGP)
Recurrent infections in infancy and early childhood  (IAGP)
Round face  (IAGP)
Sensorineural hearing impairment  (IAGP)
Skeletal myopathy  (IAGP)
Spastic paraplegia  (IAGP)
Splenomegaly  (IAGP)
Talipes equinovarus  (IAGP)
Thromboembolic stroke  (IAGP)
Tricuspid regurgitation  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle. Bissler JJ, etal., Lab Invest. 2002 Mar;82(3):335-44.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Metabolism and function of mitochondrial cardiolipin. Ren M, etal., Prog Lipid Res. 2014 Jul;55:1-16. doi: 10.1016/j.plipres.2014.04.001. Epub 2014 Apr 24.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:5455540   PMID:7616547   PMID:8042670   PMID:8248200   PMID:8281148   PMID:8630491   PMID:8889548   PMID:9332651   PMID:9382096   PMID:9382097   PMID:10407787   PMID:10484795  
PMID:11076863   PMID:11118295   PMID:11238270   PMID:12032589   PMID:12477932   PMID:12930833   PMID:15098233   PMID:15304507   PMID:15489336   PMID:15499385   PMID:15793838   PMID:16020776  
PMID:16169070   PMID:16344560   PMID:16381901   PMID:16857210   PMID:16873891   PMID:17043667   PMID:18029348   PMID:18799610   PMID:19261493   PMID:19619503   PMID:19700766   PMID:20301486  
PMID:20474083   PMID:20858893   PMID:21873635   PMID:22078877   PMID:22658674   PMID:22692215   PMID:23031367   PMID:23200781   PMID:23345479   PMID:23359024   PMID:23409742   PMID:23432031  
PMID:23523468   PMID:24093814   PMID:24107629   PMID:24342716   PMID:24858921   PMID:25247053   PMID:25299040   PMID:25776009   PMID:25782672   PMID:25919711   PMID:26164234   PMID:26186194  
PMID:26845103   PMID:26853223   PMID:26871637   PMID:26908608   PMID:28183324   PMID:28346439   PMID:28489874   PMID:28514442   PMID:29129703   PMID:29508483   PMID:29514840   PMID:30008435  
PMID:30021884   PMID:30033366   PMID:30122738   PMID:30226969   PMID:30251684   PMID:30332638   PMID:31056533   PMID:31209945   PMID:31559736   PMID:31562256   PMID:31594864   PMID:31598953  
PMID:31638828   PMID:31729175   PMID:31771093   PMID:31801083   PMID:32234310   PMID:32694731   PMID:32898567   PMID:33031893   PMID:33096711   PMID:33114077   PMID:33141042   PMID:33226137  
PMID:33731717   PMID:33961781   PMID:34314685   PMID:34549308   PMID:34606042   PMID:34716691   PMID:34800366   PMID:35024322   PMID:35156780   PMID:35397626   PMID:35637948   PMID:35648375  
PMID:35676289   PMID:35713976   PMID:35820928   PMID:35906484   PMID:35937460   PMID:36254631   PMID:36308276   PMID:36628843   PMID:36635430   PMID:36646707   PMID:36656142   PMID:36740402  
PMID:37539777   PMID:37565816   PMID:37626124   PMID:37676731   PMID:37716913   PMID:37741944   PMID:37917410   PMID:38216090   PMID:38242197   PMID:38320423   PMID:38322995   PMID:38610069  


Genomics

Comparative Map Data
TAFAZZIN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,411,539 - 154,421,726 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX154,411,524 - 154,421,726 (+)EnsemblGRCh38hg38GRCh38
GRCh37X153,639,875 - 153,650,065 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,293,071 - 153,303,259 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X153,160,723 - 153,170,908NCBI
CeleraX153,800,935 - 153,811,119 (+)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX142,217,267 - 142,227,597 (+)NCBIHuRef
CHM1_1X153,551,525 - 153,561,710 (+)NCBICHM1_1
T2T-CHM13v2.0X152,648,045 - 152,658,233 (+)NCBIT2T-CHM13v2.0
Tafazzin
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,325,498 - 73,340,182 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX73,325,518 - 73,333,757 (+)EnsemblGRCm39 Ensembl
GRCm38X74,281,900 - 74,295,319 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,281,912 - 74,290,151 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X71,528,036 - 71,535,490 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X70,535,482 - 70,542,868 (+)NCBIMGSCv36mm8
CeleraX65,536,488 - 65,543,942 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.95NCBI
Tafazzin
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X157,216,826 - 157,230,524 (+)NCBIGRCr8
mRatBN7.2X152,065,539 - 152,076,178 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX152,065,609 - 152,074,001 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX154,207,544 - 154,215,129 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X157,770,777 - 157,778,362 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X155,442,576 - 155,450,161 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X156,421,006 - 156,429,461 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX156,421,009 - 156,428,593 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01152,161,153 - 152,169,569 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X160,319,389 - 160,326,974 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1135,822,755 - 135,830,340 (-)NCBICelera
Cytogenetic MapXq37NCBI
Tafazzin
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580915,188 - 922,791 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955580915,668 - 921,703 (+)NCBIChiLan1.0ChiLan1.0
TAFAZZIN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X154,386,201 - 154,396,111 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X154,389,806 - 154,399,716 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X143,853,054 - 143,863,491 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X153,725,299 - 153,734,046 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,725,294 - 153,734,046 (+)Ensemblpanpan1.1panPan2
TAFAZZIN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,111,608 - 122,125,714 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,111,434 - 122,125,506 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X125,253,464 - 125,267,405 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX125,253,122 - 125,267,404 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X121,022,538 - 121,036,427 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X123,537,418 - 123,551,342 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X123,299,313 - 123,313,250 (+)NCBIUU_Cfam_GSD_1.0
Tafazzin
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,422,492 - 119,431,185 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049368091,160,247 - 1,171,097 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049368091,160,265 - 1,168,956 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TAFAZZIN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,940,031 - 124,946,273 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,940,036 - 124,946,275 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TAFAZZIN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366606566,638,292 - 66,648,540 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tafazzin
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624946871,901 - 879,508 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624946871,618 - 885,331 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TAFAZZIN
414 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000029171]|not provided [RCV000283338] ChrX:154420676 [GRCh38]
ChrX:153649015 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000116.5(TAFAZZIN):c.110-17= single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000030474]|not provided [RCV001682716]|not specified [RCV000245792] ChrX:154412069 [GRCh38]
ChrX:153640406 [GRCh37]
ChrX:Xq28		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000116.5(TAFAZZIN):c.239-1G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011849] ChrX:154413206 [GRCh38]
ChrX:153641543 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011850]|not provided [RCV001091834] ChrX:154412129 [GRCh38]
ChrX:153640466 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000116.5(TAFAZZIN):c.239-1G>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011851] ChrX:154413206 [GRCh38]
ChrX:153641543 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs) duplication 3-Methylglutaconic aciduria type 2 [RCV000011852] ChrX:154419742..154419743 [GRCh38]
ChrX:153648081..153648082 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.634del (p.Leu212fs) deletion 3-Methylglutaconic aciduria type 2 [RCV000011853] ChrX:154420079 [GRCh38]
ChrX:153648418 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011854]|TAFAZZIN-related disorder [RCV003226156]|not provided [RCV003333950] ChrX:154420037 [GRCh38]
ChrX:153648376 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.109+5G>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011855] ChrX:154411957 [GRCh38]
ChrX:153640294 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000116.5(TAFAZZIN):c.284+110G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011856] ChrX:154413362 [GRCh38]
ChrX:153641699 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011857] ChrX:154413549 [GRCh38]
ChrX:153641886 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance
NM_000116.5(TAFAZZIN):c.110-2A>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011858] ChrX:154412084 [GRCh38]
ChrX:153640421 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011859] ChrX:154413248 [GRCh38]
ChrX:153641585 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs) deletion 3-Methylglutaconic aciduria type 2 [RCV000011860] ChrX:154420051..154420054 [GRCh38]
ChrX:153648390..153648393 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.647-1G>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011861] ChrX:154420211 [GRCh38]
ChrX:153648550 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000542068]|Cardiovascular phenotype [RCV004678739] ChrX:154420726 [GRCh38]
ChrX:153649065 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.109+28C>T single nucleotide variant not specified [RCV000035085] ChrX:154411980 [GRCh38]
ChrX:153640317 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001340612]|Cardiovascular phenotype [RCV002460897]|not provided [RCV000766522]|not specified [RCV000035086] ChrX:154411856 [GRCh38]
ChrX:153640193 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000035087] ChrX:154412184 [GRCh38]
ChrX:153640521 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000035088] ChrX:154413525 [GRCh38]
ChrX:153641862 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000035089] ChrX:154413504 [GRCh38]
ChrX:153641841 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000035090]|not provided [RCV004767032] ChrX:154413507 [GRCh38]
ChrX:153641844 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance
NM_000116.5(TAFAZZIN):c.371-13C>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002513349]|not specified [RCV000035091] ChrX:154414088 [GRCh38]
ChrX:153642425 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000233298]|Cardiovascular phenotype [RCV000245160]|Endocardial fibroelastosis [RCV000339020]|Left ventricular noncompaction cardiomyopathy [RCV000347300]|Primary dilated cardiomyopathy [RCV000289824]|not provided [RCV000224909]|not specified [RCV000035092] ChrX:154414113 [GRCh38]
ChrX:153642450 [GRCh37]
ChrX:Xq28		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001492088]|Cardiovascular phenotype [RCV003298042]|not specified [RCV000035093] ChrX:154411891 [GRCh38]
ChrX:153640228 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000263467]|Endocardial fibroelastosis [RCV000297570]|Left ventricular noncompaction cardiomyopathy [RCV000313028]|Primary dilated cardiomyopathy [RCV000356145]|not provided [RCV004017278] ChrX:154419617 [GRCh38]
ChrX:153647956 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.583+10G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001437579]|not specified [RCV000035095] ChrX:154419756 [GRCh38]
ChrX:153648095 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.584-7T>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002513350]|not specified [RCV000035096] ChrX:154420025 [GRCh38]
ChrX:153648364 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000035097] ChrX:154420038 [GRCh38]
ChrX:153648377 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000116.5(TAFAZZIN):c.700-1G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000035098] ChrX:154420657 [GRCh38]
ChrX:153648996 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000116.5(TAFAZZIN):c.718G>C (p.Gly240Arg) single nucleotide variant Primary dilated cardiomyopathy [RCV000035099] ChrX:154420676 [GRCh38]
ChrX:153649015 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.752G>T (p.Arg251Leu) single nucleotide variant not specified [RCV000035100] ChrX:154420710 [GRCh38]
ChrX:153649049 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.11:g.154420879_154420896delinsA indel not specified [RCV000035101] ChrX:154420879..154420896 [GRCh38]
ChrX:153649218..153649235 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003236772]|Primary dilated cardiomyopathy [RCV000035102] ChrX:154420948 [GRCh38]
ChrX:153649287 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000288304]|Cardiovascular phenotype [RCV000251950]|Endocardial fibroelastosis [RCV000385200]|Left ventricular noncompaction cardiomyopathy [RCV000266172]|Primary dilated cardiomyopathy [RCV000328398]|not provided [RCV000857893]|not specified [RCV000035103] ChrX:154420998 [GRCh38]
ChrX:153649337 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:154394598-154554969)x1 copy number loss See cases [RCV000051760] ChrX:154394598..154554969 [GRCh38]
ChrX:153622940..153783184 [GRCh37]
ChrX:153276134..153436378 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:154336596-154642063)x2 copy number gain See cases [RCV000054320] ChrX:154336596..154642063 [GRCh38]
ChrX:153564946..153870337 [GRCh37]
ChrX:153218140..153523531 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 copy number gain See cases [RCV000054321] ChrX:154348522..154594454 [GRCh38]
ChrX:153576890..153822717 [GRCh37]
ChrX:153230084..153475911 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq28(chrX:154394598-154626056)x2 copy number gain See cases [RCV000054322] ChrX:154394598..154626056 [GRCh38]
ChrX:153622940..153854307 [GRCh37]
ChrX:153276134..153507501 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.542-20C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000609016]|not provided [RCV001529753]|not specified [RCV000128358] ChrX:154419685 [GRCh38]
ChrX:153648024 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003621505]|not specified [RCV000128359] ChrX:154420082 [GRCh38]
ChrX:153648421 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000116.5(TAFAZZIN):c.646+14C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001168940]|Endocardial fibroelastosis [RCV001166048]|Primary dilated cardiomyopathy [RCV001166047]|not provided [RCV001727595]|not specified [RCV000155815] ChrX:154420108 [GRCh38]
ChrX:153648447 [GRCh37]
ChrX:Xq28		 benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001306287] ChrX:154412186 [GRCh38]
ChrX:153640523 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:154348522-154770053)x2 copy number gain See cases [RCV000140492] ChrX:154348522..154770053 [GRCh38]
ChrX:153576890..153998328 [GRCh37]
ChrX:153230084..153651522 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000457435]|Cardiovascular phenotype [RCV002460934]|TAFAZZIN-related disorder [RCV004551333]|not provided [RCV003992201]|not specified [RCV000154416] ChrX:154420222 [GRCh38]
ChrX:153648561 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000154422]|3-Methylglutaconic aciduria type 2 [RCV002470779] ChrX:154413544 [GRCh38]
ChrX:153641881 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000116.5(TAFAZZIN):c.-17C>T single nucleotide variant not specified [RCV000154436] ChrX:154411827 [GRCh38]
ChrX:153640164 [GRCh37]
ChrX:Xq28		 likely benign
NC_000023.10:g.(?_153640181)_(153641904_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV000154557] ChrX:153640181..153641904 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs) microsatellite 3-Methylglutaconic aciduria type 2 [RCV000154564] ChrX:154420666..154420667 [GRCh38]
ChrX:153649005..153649006 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000154666] ChrX:154420212 [GRCh38]
ChrX:153648551 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000705533]|Cardiovascular phenotype [RCV002460933]|not provided [RCV001719939]|not specified [RCV000151966] ChrX:154413528 [GRCh38]
ChrX:153641865 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001327792]|not specified [RCV000151967] ChrX:154414149 [GRCh38]
ChrX:153642486 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000116.5(TAFAZZIN):c.154G>T (p.Glu52Ter) single nucleotide variant not provided [RCV000183906] ChrX:154412130 [GRCh38]
ChrX:153640467 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002516936]|not provided [RCV000183907] ChrX:154413248 [GRCh38]
ChrX:153641585 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003512022]|not provided [RCV000183908] ChrX:154419745 [GRCh38]
ChrX:153648084 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000819578]|Cardiovascular phenotype [RCV002460960]|not provided [RCV000183909] ChrX:154420239 [GRCh38]
ChrX:153648578 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000637295]|not provided [RCV000183910]|not specified [RCV000609126] ChrX:154420709 [GRCh38]
ChrX:153649048 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000817139]|Cardiovascular phenotype [RCV004020236]|not provided [RCV000183911] ChrX:154420721 [GRCh38]
ChrX:153649060 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001230858]|Cardiovascular phenotype [RCV002460961]|TAFAZZIN-related disorder [RCV004553026]|not provided [RCV000183912] ChrX:154420904 [GRCh38]
ChrX:153649243 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.4(TAZ):c.747_748delCGinsA (p.Glu250Serfs) indel not provided [RCV000183913] ChrX:154420705..154420706 [GRCh38]
ChrX:153649044..153649045 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003621512]|not provided [RCV000183914] ChrX:154412206 [GRCh38]
ChrX:153640543 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000116.5(TAFAZZIN):c.526C>T (p.His176Tyr) single nucleotide variant not provided [RCV000183915] ChrX:154419608 [GRCh38]
ChrX:153647947 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000116.5(TAFAZZIN):c.584-7del deletion 3-Methylglutaconic aciduria type 2 [RCV000206800]|not provided [RCV001589094] ChrX:154420025 [GRCh38]
ChrX:153648364 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.700-5C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000927936]|Primary familial hypertrophic cardiomyopathy [RCV000208291] ChrX:154420653 [GRCh38]
ChrX:153648992 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003621521]|not provided [RCV000220408] ChrX:154420975 [GRCh38]
ChrX:153649314 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.778-2A>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003236792]|not provided [RCV000216377] ChrX:154420901 [GRCh38]
ChrX:153649240 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000695963]|Cardiomyopathy [RCV000769551]|not provided [RCV000216620] ChrX:154420716 [GRCh38]
ChrX:153649055 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.461-2A>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003236791]|not provided [RCV000216671] ChrX:154419541 [GRCh38]
ChrX:153647880 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.572G>A (p.Arg191His) single nucleotide variant not provided [RCV000216922] ChrX:154419735 [GRCh38]
ChrX:153648074 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.460+1G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000226995]|Cardiovascular phenotype [RCV002460994]|not provided [RCV000658043] ChrX:154414191 [GRCh38]
ChrX:153642528 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000230434] ChrX:154412203 [GRCh38]
ChrX:153640540 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000230961] ChrX:154419746 [GRCh38]
ChrX:153648085 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2 copy number gain See cases [RCV000240046] ChrX:153627408..154089925 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000116.5(TAFAZZIN):c.145del (p.Val49fs) deletion Cardiovascular phenotype [RCV000620932] ChrX:154412120 [GRCh38]
ChrX:153640457 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000116.5(TAFAZZIN):c.*560G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000271777]|Endocardial fibroelastosis [RCV000329136]|Left ventricular noncompaction cardiomyopathy [RCV000359030]|Primary dilated cardiomyopathy [RCV000362827] ChrX:154421564 [GRCh38]
ChrX:153649903 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000395947]|Endocardial fibroelastosis [RCV000402701]|Left ventricular noncompaction cardiomyopathy [RCV000307696]|Primary dilated cardiomyopathy [RCV000350806]|not provided [RCV000841319] ChrX:154419586 [GRCh38]
ChrX:153647925 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000116.5(TAZ):c.-119= deletion 3-Methylglutaconic aciduria type 2 [RCV000367327]|Dilated cardiomyopathy 3B [RCV000375201]|Endocardial fibroelastosis [RCV000318438]|Left ventricular noncompaction cardiomyopathy [RCV000275048] ChrX:154411725 [GRCh38]
ChrX:153640062 [GRCh37]
ChrX:Xq28		 benign
NM_000116.5(TAFAZZIN):c.*396C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000395034]|Endocardial fibroelastosis [RCV000280388]|Left ventricular noncompaction cardiomyopathy [RCV000404306]|Primary dilated cardiomyopathy [RCV000337834] ChrX:154421400 [GRCh38]
ChrX:153649739 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000116.5(TAFAZZIN):c.*387C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000388574]|Endocardial fibroelastosis [RCV000326983]|Left ventricular noncompaction cardiomyopathy [RCV000348366]|Primary dilated cardiomyopathy [RCV000296655] ChrX:154421391 [GRCh38]
ChrX:153649730 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.-88G>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000378751]|Endocardial fibroelastosis [RCV000317169]|Left ventricular noncompaction cardiomyopathy [RCV000286363]|Primary dilated cardiomyopathy [RCV000259528]|not provided [RCV001712171] ChrX:154411756 [GRCh38]
ChrX:153640093 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000116.5(TAFAZZIN):c.*470= single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000298181]|Endocardial fibroelastosis [RCV000395030]|Left ventricular noncompaction cardiomyopathy [RCV000360069]|Primary dilated cardiomyopathy [RCV000301850]|not provided [RCV004713879] ChrX:154421474 [GRCh38]
ChrX:153649813 [GRCh37]
ChrX:Xq28		 benign
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000358603]|Cardiomyopathy [RCV000770597]|Cardiovascular phenotype [RCV002461131]|Endocardial fibroelastosis [RCV000324398]|Left ventricular noncompaction cardiomyopathy [RCV000354693]|Primary dilated cardiomyopathy [RCV000266883]|not provided [RCV001705537]|not specified [RCV002298578] ChrX:154420240 [GRCh38]
ChrX:153648579 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000116.5(TAFAZZIN):c.794C>T (p.Ala265Val) single nucleotide variant not provided [RCV000523892] ChrX:154420919 [GRCh38]
ChrX:153649258 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000816124]|not provided [RCV000489828] ChrX:154420094 [GRCh38]
ChrX:153648433 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000637296] ChrX:154412214 [GRCh38]
ChrX:153640551 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001078968]|Cardiovascular phenotype [RCV002461274]|Endocardial fibroelastosis [RCV001167616]|Primary dilated cardiomyopathy [RCV001167617]|not provided [RCV000521921] ChrX:154420719 [GRCh38]
ChrX:153649058 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000116.5(TAFAZZIN):c.542-3C>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000578250] ChrX:154419702 [GRCh38]
ChrX:153648041 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.461-16G>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002531584]|not specified [RCV000601633] ChrX:154419527 [GRCh38]
ChrX:153647866 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.639G>A (p.Trp213Ter) single nucleotide variant not provided [RCV000598838] ChrX:154420087 [GRCh38]
ChrX:153648426 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.487dup (p.Asp163fs) duplication not provided [RCV000599372] ChrX:154419567..154419568 [GRCh38]
ChrX:153647906..153647907 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000637300]|Cardiovascular phenotype [RCV003303007] ChrX:154420076 [GRCh38]
ChrX:153648415 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.699+1G>A single nucleotide variant not provided [RCV000414633] ChrX:154420265 [GRCh38]
ChrX:153648604 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs) deletion 3-Methylglutaconic aciduria type 2 [RCV000531914] ChrX:154420708..154420717 [GRCh38]
ChrX:153649047..153649056 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.284+3G>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002535243]|not provided [RCV000731844] ChrX:154413255 [GRCh38]
ChrX:153641592 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000116.5(TAFAZZIN):c.231T>C (p.His77=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002525450]|not specified [RCV000434764] ChrX:154412207 [GRCh38]
ChrX:153640544 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002522359]|Cardiovascular phenotype [RCV002461166]|not specified [RCV000418976] ChrX:154413518 [GRCh38]
ChrX:153641855 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.-37C>T single nucleotide variant not specified [RCV000442950] ChrX:154411807 [GRCh38]
ChrX:153640144 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
NM_000116.5(TAFAZZIN):c.110-6C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001425159]|Cardiomyopathy [RCV000770594]|not provided [RCV000950984]|not specified [RCV001726169] ChrX:154412080 [GRCh38]
ChrX:153640417 [GRCh37]
ChrX:Xq28		 benign|likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.594C>A (p.Arg198=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003621536]|not specified [RCV000437589] ChrX:154420042 [GRCh38]
ChrX:153648381 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs) microsatellite 3-Methylglutaconic aciduria type 2 [RCV001043342]|not provided [RCV000482188] ChrX:154414149..154414152 [GRCh38]
ChrX:153642486..153642489 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000471301] ChrX:154413249 [GRCh38]
ChrX:153641586 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|uncertain significance
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000474914] ChrX:154412099 [GRCh38]
ChrX:153640436 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001487502]|Cardiovascular phenotype [RCV002461220] ChrX:154420225 [GRCh38]
ChrX:153648564 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.239-6del deletion 3-Methylglutaconic aciduria type 2 [RCV003512046]|not provided [RCV003314598] ChrX:154413200 [GRCh38]
ChrX:153641537 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000611350]|not provided [RCV000523344] ChrX:154420915 [GRCh38]
ChrX:153649254 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000116.5(TAFAZZIN):c.325C>T (p.His109Tyr) single nucleotide variant not provided [RCV000497863] ChrX:154413522 [GRCh38]
ChrX:153641859 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs) deletion 3-Methylglutaconic aciduria type 2 [RCV000503128] ChrX:154420961 [GRCh38]
ChrX:153649300 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000116.5(TAFAZZIN):c.483del (p.Met162fs) deletion not specified [RCV000508564] ChrX:154419562 [GRCh38]
ChrX:153647901 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153418991-153644258)x3 copy number gain See cases [RCV000511851] ChrX:153418991..153644258 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001062495]|Caused by mutation in the tafazzin gene [RCV000496045]|not provided [RCV001764477] ChrX:154412130 [GRCh38]
ChrX:153640467 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000637299] ChrX:154420732 [GRCh38]
ChrX:153649071 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000605517]|Cardiovascular phenotype [RCV002461931]|not provided [RCV001530098]|not specified [RCV001700250] ChrX:154420705 [GRCh38]
ChrX:153649044 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000116.5(TAFAZZIN):c.680dup (p.Tyr227Ter) duplication Left ventricular noncompaction [RCV000513310] ChrX:154420244..154420245 [GRCh38]
ChrX:153648583..153648584 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.541+3C>G single nucleotide variant Cardiovascular phenotype [RCV000617747] ChrX:154419626 [GRCh38]
ChrX:153647965 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001454552]|Cardiovascular phenotype [RCV004025507]|TAFAZZIN-related disorder [RCV004547794] ChrX:154419706 [GRCh38]
ChrX:153648045 [GRCh37]
ChrX:Xq28		 likely benign
NC_000023.10:g.(?_153295726)_(153786885_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000637297] ChrX:154420926 [GRCh38]
ChrX:153649265 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.371-16G>T single nucleotide variant not specified [RCV000609693] ChrX:154414085 [GRCh38]
ChrX:153642422 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000538576]|Cardiovascular phenotype [RCV002461296]|not provided [RCV000827408] ChrX:154411912 [GRCh38]
ChrX:153640249 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003621562]|Cardiovascular phenotype [RCV000618005] ChrX:154420925 [GRCh38]
ChrX:153649264 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.108C>T (p.Thr36=) single nucleotide variant not specified [RCV000616107] ChrX:154411951 [GRCh38]
ChrX:153640288 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001467934]|Cardiovascular phenotype [RCV002461921]|not specified [RCV000613889] ChrX:154420720 [GRCh38]
ChrX:153649059 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001499394]|not specified [RCV000613994] ChrX:154412192 [GRCh38]
ChrX:153640529 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000616973]|not provided [RCV001726275]|not specified [RCV001701399] ChrX:154420042 [GRCh38]
ChrX:153648381 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000116.5(TAFAZZIN):c.571C>T (p.Arg191Cys) single nucleotide variant Cardiovascular phenotype [RCV003310694] ChrX:154419734 [GRCh38]
ChrX:153648073 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.136A>T (p.Asn46Tyr) single nucleotide variant Cardiovascular phenotype [RCV003310695] ChrX:154412112 [GRCh38]
ChrX:153640449 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
NC_000023.10:g.153648583dupA duplication Left ventricular noncompaction [RCV000513310] ChrX:153648583 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002528530]|not specified [RCV000600705] ChrX:154414137 [GRCh38]
ChrX:153642474 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001844221]|not provided [RCV000676908] ChrX:154419746 [GRCh38]
ChrX:153648085 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.207C>G (p.His69Gln) single nucleotide variant not provided [RCV000676907] ChrX:154412183 [GRCh38]
ChrX:153640520 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153581543-153858492)x2 copy number gain not provided [RCV000684413] ChrX:153581543..153858492 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153621005-153868484)x4 copy number gain not provided [RCV000684414] ChrX:153621005..153868484 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000678752] ChrX:154413564 [GRCh38]
ChrX:153641901 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153761134)x2 copy number gain not provided [RCV000684744] ChrX:153560741..153761134 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3 copy number gain not provided [RCV000684745] ChrX:153560741..153858492 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_153579929)_(153649363_?)dup duplication Periventricular nodular heterotopia 1 [RCV000708327] ChrX:153579929..153649363 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.777+6T>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000700062] ChrX:154420741 [GRCh38]
ChrX:153649080 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000689221]|Cardiovascular phenotype [RCV002462025]|not provided [RCV001509135] ChrX:154413496 [GRCh38]
ChrX:153641833 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000703717] ChrX:154420054 [GRCh38]
ChrX:153648393 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.699+5G>A single nucleotide variant Primary familial dilated cardiomyopathy [RCV000845468] ChrX:154420269 [GRCh38]
ChrX:153648608 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.324A>G (p.Leu108=) single nucleotide variant not provided [RCV001702144] ChrX:154413521 [GRCh38]
ChrX:153641858 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.236_238+5del deletion 3-Methylglutaconic aciduria type 2 [RCV001044975] ChrX:154412212..154412219 [GRCh38]
ChrX:153640549..153640556 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001422819] ChrX:154419724 [GRCh38]
ChrX:153648063 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001392584]|Cardiovascular phenotype [RCV003380762] ChrX:154419547 [GRCh38]
ChrX:153647886 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001424265] ChrX:154420243 [GRCh38]
ChrX:153648582 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001053235]|not provided [RCV003482325] ChrX:154420715 [GRCh38]
ChrX:153649054 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000995886] ChrX:154412214 [GRCh38]
ChrX:153640551 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000116.5(TAFAZZIN):c.774_777+1dup duplication not provided [RCV000996073] ChrX:154420731..154420732 [GRCh38]
ChrX:153649070..153649071 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001036319] ChrX:154413221 [GRCh38]
ChrX:153641558 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001057771] ChrX:154414167 [GRCh38]
ChrX:153642504 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.327C>T (p.His109=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003621571]|Cardiomyopathy [RCV000770595] ChrX:154413524 [GRCh38]
ChrX:153641861 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs) deletion 3-Methylglutaconic aciduria type 2 [RCV003236840]|Cardiomyopathy [RCV000770598] ChrX:154420249 [GRCh38]
ChrX:153648588 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000116.5(TAFAZZIN):c.371-6C>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001398741]|Cardiomyopathy [RCV000770596]|TAFAZZIN-related disorder [RCV004549839]|not provided [RCV001529457] ChrX:154414095 [GRCh38]
ChrX:153642432 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000809073]|not provided [RCV001091835] ChrX:154413249 [GRCh38]
ChrX:153641586 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000876118] ChrX:154420989 [GRCh38]
ChrX:153649328 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000863226]|Cardiovascular phenotype [RCV002462197] ChrX:154419730 [GRCh38]
ChrX:153648069 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000864634]|Cardiovascular phenotype [RCV003169113]|not provided [RCV001559055] ChrX:154411922 [GRCh38]
ChrX:153640259 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000802614]|Cardiovascular phenotype [RCV002462159] ChrX:154419725 [GRCh38]
ChrX:153648064 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_153577207)_(153650075_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV000816614] ChrX:153577207..153650075 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.238+6C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000818250] ChrX:154412220 [GRCh38]
ChrX:153640557 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000802834] ChrX:154419739 [GRCh38]
ChrX:153648078 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000797844]|Cardiovascular phenotype [RCV003166164] ChrX:154419551 [GRCh38]
ChrX:153647890 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.238+11C>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002538288]|not provided [RCV000839831] ChrX:154412225 [GRCh38]
ChrX:153640562 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.647-42C>T single nucleotide variant not provided [RCV000833416] ChrX:154420170 [GRCh38]
ChrX:153648509 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000801634] ChrX:154414146 [GRCh38]
ChrX:153642483 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000811455] ChrX:154420212 [GRCh38]
ChrX:153648551 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.461-46C>T single nucleotide variant not provided [RCV000834847] ChrX:154419497 [GRCh38]
ChrX:153647836 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.238+2_238+9del deletion 3-Methylglutaconic aciduria type 2 [RCV000818455] ChrX:154412213..154412220 [GRCh38]
ChrX:153640550..153640557 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000819778]|TAFAZZIN-related disorder [RCV004723241] ChrX:154420262 [GRCh38]
ChrX:153648601 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion X-linked Emery-Dreifuss muscular dystrophy [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.284+4A>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000823073] ChrX:154413256 [GRCh38]
ChrX:153641593 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001167556]|Endocardial fibroelastosis [RCV001167554]|Primary dilated cardiomyopathy [RCV001167555] ChrX:154411892 [GRCh38]
ChrX:153640229 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000791613] ChrX:154413567 [GRCh38]
ChrX:153641904 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_153640161)_(153649363_?)dup duplication 3-Methylglutaconic aciduria type 2 [RCV000808649] ChrX:153640161..153649363 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.*618A>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001166585]|Endocardial fibroelastosis [RCV001166586]|Primary dilated cardiomyopathy [RCV001166587] ChrX:154421622 [GRCh38]
ChrX:153649961 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000803236] ChrX:154420254 [GRCh38]
ChrX:153648593 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000813199] ChrX:154411894 [GRCh38]
ChrX:153640231 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.738G>A (p.Leu246=) single nucleotide variant not provided [RCV000842290] ChrX:154420696 [GRCh38]
ChrX:153649035 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001168190]|Endocardial fibroelastosis [RCV001168191]|Primary dilated cardiomyopathy [RCV001168189]|TAFAZZIN-related disorder [RCV004548040]|not provided [RCV001528484] ChrX:154413548 [GRCh38]
ChrX:153641885 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xq28(chrX:153566612-153731506)x2 copy number gain not provided [RCV000847027] ChrX:153566612..153731506 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 copy number gain not provided [RCV000845970] ChrX:153556428..153868487 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_153577207)_(153642537_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV001031667] ChrX:153577207..153642537 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153609873-153815499)x3 copy number gain not provided [RCV000847592] ChrX:153609873..153815499 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001222821] ChrX:154412203 [GRCh38]
ChrX:153640540 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001221809] ChrX:154414139 [GRCh38]
ChrX:153642476 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001226052] ChrX:154420974 [GRCh38]
ChrX:153649313 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000853287] ChrX:154420936 [GRCh38]
ChrX:153649275 [GRCh37]
ChrX:Xq28		 pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153566798-153748208)x4 copy number gain Chromosome Xq28 duplication syndrome [RCV003313724] ChrX:153566798..153748208 [GRCh37]
ChrX:Xq28		 not provided
NM_000116.5(TAFAZZIN):c.249A>G (p.Lys83=) single nucleotide variant not provided [RCV000996072] ChrX:154413217 [GRCh38]
ChrX:153641554 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.*33G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001167618]|Endocardial fibroelastosis [RCV001168260]|Primary dilated cardiomyopathy [RCV001167619] ChrX:154421037 [GRCh38]
ChrX:153649376 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001168188]|Endocardial fibroelastosis [RCV001168186]|Primary dilated cardiomyopathy [RCV001168187] ChrX:154413238 [GRCh38]
ChrX:153641575 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.647-6C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001166050]|Endocardial fibroelastosis [RCV001166049]|Primary dilated cardiomyopathy [RCV001166051] ChrX:154420206 [GRCh38]
ChrX:153648545 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237257] ChrX:154420083 [GRCh38]
ChrX:153648422 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.626T>A (p.Ile209Asn) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237264] ChrX:154420074 [GRCh38]
ChrX:153648413 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237269] ChrX:154420706 [GRCh38]
ChrX:153649045 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer) indel 3-Methylglutaconic aciduria type 2 [RCV003237274] ChrX:154413491 [GRCh38]
ChrX:153641828 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237278] ChrX:154413248 [GRCh38]
ChrX:153641585 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs) insertion 3-Methylglutaconic aciduria type 2 [RCV003237281] ChrX:154420704..154420705 [GRCh38]
ChrX:153649043..153649044 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.699+1G>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237289] ChrX:154420265 [GRCh38]
ChrX:153648604 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237290]|TAFAZZIN-related disorder [RCV004548512] ChrX:154412212 [GRCh38]
ChrX:153640549 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.281G>C (p.Arg94Pro) single nucleotide variant not provided [RCV001568763] ChrX:154413249 [GRCh38]
ChrX:153641586 [GRCh37]
ChrX:Xq28		 likely pathogenic
NC_000023.10:g.(?_153585782)_(153775961_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV003107407] ChrX:153585782..153775961 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_153128118)_(153664237_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV003107402] ChrX:153128118..153664237 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003512123]|not provided [RCV001702153] ChrX:154413222 [GRCh38]
ChrX:153641559 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.284+30C>T single nucleotide variant not provided [RCV004714306]|not specified [RCV001723511] ChrX:154413282 [GRCh38]
ChrX:153641619 [GRCh37]
ChrX:Xq28		 benign
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001169982]|Left ventricular noncompaction cardiomyopathy [RCV000853160]|not provided [RCV002275161] ChrX:154411872 [GRCh38]
ChrX:153640209 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.355G>A (p.Val119Met) single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000853163] ChrX:154413552 [GRCh38]
ChrX:153641889 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001476350]|Cardiovascular phenotype [RCV002462205] ChrX:154420705 [GRCh38]
ChrX:153649044 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001036935] ChrX:154414190 [GRCh38]
ChrX:153642527 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.460+5G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001217162]|not provided [RCV004768925] ChrX:154414195 [GRCh38]
ChrX:153642532 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001009932.1(DNASE1L1):c.-431+167del deletion not provided [RCV001718524] ChrX:153640061 [GRCh37]
ChrX:Xq28		 benign
NM_000116.5(TAFAZZIN):c.541+1G>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237251] ChrX:154419624 [GRCh38]
ChrX:153647963 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237255] ChrX:154413567 [GRCh38]
ChrX:153641904 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs) duplication 3-Methylglutaconic aciduria type 2 [RCV003237263] ChrX:154420991..154420992 [GRCh38]
ChrX:153649330..153649331 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237267] ChrX:154413482 [GRCh38]
ChrX:153641819 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.211T>C (p.Ser71Pro) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237275] ChrX:154412187 [GRCh38]
ChrX:153640524 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.238+2T>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237291] ChrX:154412216 [GRCh38]
ChrX:153640553 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000116.5(TAFAZZIN):c.370+262A>C single nucleotide variant not provided [RCV001547029] ChrX:154413829 [GRCh38]
ChrX:153642166 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.239-17C>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003106706] ChrX:154413190 [GRCh38]
ChrX:153641527 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_000116.5(TAFAZZIN):c.-19G>C single nucleotide variant not provided [RCV001671247] ChrX:154411825 [GRCh38]
ChrX:153640162 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq28(chrX:153263517-155260560)x2 copy number gain Intellectual disability [RCV001638056] ChrX:153263517..155260560 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.541+5G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001035843] ChrX:154419628 [GRCh38]
ChrX:153647967 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001036298] ChrX:154414160 [GRCh38]
ChrX:153642497 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.647-29C>T single nucleotide variant not provided [RCV001649567] ChrX:154420183 [GRCh38]
ChrX:153648522 [GRCh37]
ChrX:Xq28		 benign
NM_000116.5(TAFAZZIN):c.*648A>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001166588]|Endocardial fibroelastosis [RCV001168330]|Primary dilated cardiomyopathy [RCV001166589] ChrX:154421652 [GRCh38]
ChrX:153649991 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.528_541+7del deletion 3-Methylglutaconic aciduria type 2 [RCV001061128] ChrX:154419607..154419627 [GRCh38]
ChrX:153647946..153647966 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.542-2A>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001061185] ChrX:154419703 [GRCh38]
ChrX:153648042 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.*165T>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001168261]|Endocardial fibroelastosis [RCV001168262]|Primary dilated cardiomyopathy [RCV001168263] ChrX:154421169 [GRCh38]
ChrX:153649508 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.777+3G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001230899] ChrX:154420738 [GRCh38]
ChrX:153649077 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication X-linked Emery-Dreifuss muscular dystrophy [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001215030] ChrX:154420709 [GRCh38]
ChrX:153649048 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001228815] ChrX:154411890 [GRCh38]
ChrX:153640227 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001036775] ChrX:154414110 [GRCh38]
ChrX:153642447 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001051674] ChrX:154411932 [GRCh38]
ChrX:153640269 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.777+1G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003236876]|Cardiomyopathy [RCV001193472] ChrX:154420736 [GRCh38]
ChrX:153649075 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001042821]|Cardiovascular phenotype [RCV002462272] ChrX:154411870 [GRCh38]
ChrX:153640207 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152372767-155233731) copy number gain Chromosome Xq28 duplication syndrome [RCV002280621]|Syndromic X-linked intellectual disability Lubs type [RCV002280620] ChrX:152372767..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001371891]|Dilated cardiomyopathy 1A [RCV001256964] ChrX:154420222 [GRCh38]
ChrX:153648561 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_153579929)_(153649363_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV000708327]|Heterotopia, periventricular, X-linked dominant [RCV001313748] ChrX:153579929..153649363 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_000116.5(TAFAZZIN):c.584-9C>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001341673] ChrX:154420023 [GRCh38]
ChrX:153648362 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001327775] ChrX:154412181 [GRCh38]
ChrX:153640518 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001326374] ChrX:154419705 [GRCh38]
ChrX:153648044 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001372676] ChrX:154420041 [GRCh38]
ChrX:153648380 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001283758] ChrX:154420731 [GRCh38]
ChrX:153649070 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001433760]|Cardiovascular phenotype [RCV003160739] ChrX:154420039 [GRCh38]
ChrX:153648378 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001306805] ChrX:154412160 [GRCh38]
ChrX:153640497 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001321649] ChrX:154414133 [GRCh38]
ChrX:153642470 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001338809] ChrX:154412166 [GRCh38]
ChrX:153640503 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001363829] ChrX:154413531 [GRCh38]
ChrX:153641868 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001409405]|Cardiovascular phenotype [RCV004681165] ChrX:154412174 [GRCh38]
ChrX:153640511 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001420052] ChrX:154420042 [GRCh38]
ChrX:153648381 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001329032] ChrX:154412188 [GRCh38]
ChrX:153640525 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001359374] ChrX:154420731 [GRCh38]
ChrX:153649070 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_153640161)_(153649363_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV001383138] ChrX:153640161..153649363 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_153647872)_(153650075_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV001383140] ChrX:153647872..153650075 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs) deletion 3-Methylglutaconic aciduria type 2 [RCV001385019] ChrX:154412104 [GRCh38]
ChrX:153640441 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.109+5G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001385891] ChrX:154411957 [GRCh38]
ChrX:153640294 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer) insertion 3-Methylglutaconic aciduria type 2 [RCV001389198] ChrX:154413489..154413490 [GRCh38]
ChrX:153641826..153641827 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001400008] ChrX:154419565 [GRCh38]
ChrX:153647904 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001401828] ChrX:154419589 [GRCh38]
ChrX:153647928 [GRCh37]
ChrX:Xq28		 likely benign
NC_000023.10:g.(?_153639844)_(153642537_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV001383139] ChrX:153639844..153642537 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001488705] ChrX:154413491 [GRCh38]
ChrX:153641828 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.109+8G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001439292] ChrX:154411960 [GRCh38]
ChrX:153640297 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001447782] ChrX:154411897 [GRCh38]
ChrX:153640234 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001424338] ChrX:154420681 [GRCh38]
ChrX:153649020 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.541+10G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001435240] ChrX:154419633 [GRCh38]
ChrX:153647972 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.584-138G>A single nucleotide variant not provided [RCV001684632] ChrX:154419894 [GRCh38]
ChrX:153648233 [GRCh37]
ChrX:Xq28		 benign
NM_000116.5(TAFAZZIN):c.-52C>T single nucleotide variant not provided [RCV001619275] ChrX:154411792 [GRCh38]
ChrX:153640129 [GRCh37]
ChrX:Xq28		 benign
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001497879] ChrX:154420729 [GRCh38]
ChrX:153649068 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.778-63_778-51del microsatellite 3-Methylglutaconic aciduria type 2 [RCV001521365]|TAFAZZIN-related disorder [RCV004550295]|not provided [RCV001712940] ChrX:154420823..154420835 [GRCh38]
ChrX:153649162..153649174 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000116.5(TAFAZZIN):c.239-7C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001504139] ChrX:154413200 [GRCh38]
ChrX:153641537 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001428179]|Cardiovascular phenotype [RCV003160717]|not provided [RCV001673059] ChrX:154419550 [GRCh38]
ChrX:153647889 [GRCh37]
ChrX:Xq28		 benign|likely benign|uncertain significance
NC_000023.10:g.(?_152014869)_(154563736_?)del deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]|Dyskeratosis congenita [RCV003105406]|not provided [RCV003105407] ChrX:152014869..154563736 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000023.10:g.(?_152014869)_(155171615_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV003119101]|Adrenoleukodystrophy [RCV003119100]|Creatine transporter deficiency [RCV003119103]|Heterotopia, periventricular, X-linked dominant [RCV003109218]|Spastic paraplegia [RCV003109219]|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102] ChrX:152014869..155171615 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.632C>A (p.Pro211His) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002226858] ChrX:154420080 [GRCh38]
ChrX:153648419 [GRCh37]
ChrX:Xq28		 uncertain significance
Single allele deletion Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] ChrX:153427468..156004919 [GRCh38]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_153640181)_(153775961_?)dup duplication 3-Methylglutaconic aciduria type 2 [RCV003119319]|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003119320]|not provided [RCV003109229] ChrX:153640181..153775961 [GRCh37]
ChrX:Xq28		 uncertain significance|no classifications from unflagged records
NM_000116.5(TAFAZZIN):c.238+5C>T single nucleotide variant not provided [RCV001770583] ChrX:154412219 [GRCh38]
ChrX:153640556 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.18_22dup (p.Pro8fs) duplication not provided [RCV003237556] ChrX:154411860..154411861 [GRCh38]
ChrX:153640197..153640198 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.110-6C>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002544039]|not provided [RCV001772850] ChrX:154412080 [GRCh38]
ChrX:153640417 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.796C>G (p.Leu266Val) single nucleotide variant not provided [RCV001774261] ChrX:154420921 [GRCh38]
ChrX:153649260 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV001839062] ChrX:140888048..154656872 [GRCh38]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153093501-153792322)x2 copy number gain not provided [RCV001834439] ChrX:153093501..153792322 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_153577211)_(153640295_?)dup duplication X-linked Emery-Dreifuss muscular dystrophy [RCV002015539] ChrX:153577211..153640295 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.447_451del (p.Arg151fs) deletion not provided [RCV002224243] ChrX:154414175..154414179 [GRCh38]
ChrX:153642512..153642516 [GRCh37]
ChrX:Xq28		 likely pathogenic
NC_000023.10:g.(?_153195397)_(153642547_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV003113631] ChrX:153195397..153642547 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_153647862)_(153649343_?)dup duplication 3-Methylglutaconic aciduria type 2 [RCV003119321] ChrX:153647862..153649343 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_153641545)_(153648084_?)dup duplication 3-Methylglutaconic aciduria type 2 [RCV003119322] ChrX:153641545..153648084 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_153357622)_(153664237_?)dup duplication X-linked Emery-Dreifuss muscular dystrophy [RCV003119323] ChrX:153357622..153664237 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_153001546)_(154563736_?)dup duplication Adrenoleukodystrophy [RCV003119108] ChrX:153001546..154563736 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.149T>C (p.Leu50Pro) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237258] ChrX:154412125 [GRCh38]
ChrX:153640462 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237260] ChrX:154419579 [GRCh38]
ChrX:153647918 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.533T>C (p.Phe178Ser) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237265] ChrX:154419615 [GRCh38]
ChrX:153647954 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237272] ChrX:154412139 [GRCh38]
ChrX:153640476 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237273] ChrX:154420057 [GRCh38]
ChrX:153648396 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.245T>C (p.Leu82Pro) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237282] ChrX:154413213 [GRCh38]
ChrX:153641550 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs) deletion 3-Methylglutaconic aciduria type 2 [RCV003237283] ChrX:154412147 [GRCh38]
ChrX:153640484 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs) deletion 3-Methylglutaconic aciduria type 2 [RCV003237262] ChrX:154411896..154411897 [GRCh38]
ChrX:153640233..153640234 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.510C>T (p.Asn170=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003621692]|Cardiovascular phenotype [RCV003296216] ChrX:154419592 [GRCh38]
ChrX:153647931 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153529891-155114697)x3 copy number gain not provided [RCV002265532] ChrX:153529891..155114697 [GRCh37]
ChrX:Xq28		 not provided
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs) deletion 3-Methylglutaconic aciduria type 2 [RCV002282805] ChrX:154419596 [GRCh38]
ChrX:153647935 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 copy number loss See cases [RCV002292203] ChrX:142401540..155233731 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_000116.5(TAFAZZIN):c.310T>G (p.Phe104Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237261] ChrX:154413507 [GRCh38]
ChrX:153641844 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.481G>A (p.Gly161Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237266] ChrX:154419563 [GRCh38]
ChrX:153647902 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer) deletion 3-Methylglutaconic aciduria type 2 [RCV003237271] ChrX:154412099 [GRCh38]
ChrX:153640436 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xq28(chrX:153575641-153645284)x2 copy number gain not provided [RCV002291536] ChrX:153575641..153645284 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.55C>T (p.Leu19=) single nucleotide variant Cardiovascular phenotype [RCV002460472] ChrX:154411898 [GRCh38]
ChrX:153640235 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq28(chrX:153613883-155233731)x2 copy number gain not provided [RCV002472481] ChrX:153613883..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153282944-153681801)x3 copy number gain not provided [RCV002473744] ChrX:153282944..153681801 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.613C>T (p.Leu205Phe) single nucleotide variant Cardiovascular phenotype [RCV002460760] ChrX:154420061 [GRCh38]
ChrX:153648400 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.660C>A (p.Val220=) single nucleotide variant Cardiovascular phenotype [RCV002460841] ChrX:154420225 [GRCh38]
ChrX:153648564 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.111G>A (p.Lys37=) single nucleotide variant Cardiovascular phenotype [RCV002460650] ChrX:154412087 [GRCh38]
ChrX:153640424 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.542-3C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003103078]|Cardiovascular phenotype [RCV002460696] ChrX:154419702 [GRCh38]
ChrX:153648041 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.142G>A (p.Glu48Lys) single nucleotide variant Cardiovascular phenotype [RCV002460457] ChrX:154412118 [GRCh38]
ChrX:153640455 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.129C>G (p.Thr43=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003621667]|Cardiovascular phenotype [RCV002460474] ChrX:154412105 [GRCh38]
ChrX:153640442 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.534C>T (p.Phe178=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003103066]|Cardiovascular phenotype [RCV002460500] ChrX:154419616 [GRCh38]
ChrX:153647955 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002470525] ChrX:154412125 [GRCh38]
ChrX:153640462 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 copy number loss not provided [RCV002474567] ChrX:124749464..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002613639] ChrX:154411861 [GRCh38]
ChrX:153640198 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003512187]|Cardiovascular phenotype [RCV002463268] ChrX:154411880 [GRCh38]
ChrX:153640217 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003621668]|Cardiovascular phenotype [RCV002461600] ChrX:154411933 [GRCh38]
ChrX:153640270 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.-4G>A single nucleotide variant Cardiovascular phenotype [RCV002463270] ChrX:154411840 [GRCh38]
ChrX:153640177 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.161T>A (p.Ile54Asn) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237252] ChrX:154412137 [GRCh38]
ChrX:153640474 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.349A>G (p.Lys117Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237254] ChrX:154413546 [GRCh38]
ChrX:153641883 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs) duplication 3-Methylglutaconic aciduria type 2 [RCV003237256] ChrX:154420657..154420658 [GRCh38]
ChrX:153648996..153648997 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.329_334del (p.Ser110_His111del) deletion 3-Methylglutaconic aciduria type 2 [RCV003237259] ChrX:154413522..154413527 [GRCh38]
ChrX:153641859..153641864 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237277] ChrX:154412198 [GRCh38]
ChrX:153640535 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.302A>T (p.Asp101Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237279] ChrX:154413499 [GRCh38]
ChrX:153641836 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.583+5G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237292] ChrX:154419751 [GRCh38]
ChrX:153648090 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003237270] ChrX:154411894 [GRCh38]
ChrX:153640231 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.67G>A (p.Val23Ile) single nucleotide variant Cardiovascular phenotype [RCV002460783] ChrX:154411910 [GRCh38]
ChrX:153640247 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:153560562-153864851)x3 copy number gain Septo-optic dysplasia sequence [RCV002305872] ChrX:153560562..153864851 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.41C>A (p.Pro14Gln) single nucleotide variant not provided [RCV002300862] ChrX:154411884 [GRCh38]
ChrX:153640221 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.584-1G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002681793] ChrX:154420031 [GRCh38]
ChrX:153648370 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.371-19A>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003074387] ChrX:154414082 [GRCh38]
ChrX:153642419 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002881106] ChrX:154411846 [GRCh38]
ChrX:153640183 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.129C>A (p.Thr43=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002617194] ChrX:154412105 [GRCh38]
ChrX:153640442 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002727095] ChrX:154419623 [GRCh38]
ChrX:153647962 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003014844] ChrX:154414109 [GRCh38]
ChrX:153642446 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.489dup (p.Phe164fs) duplication Cardiovascular phenotype [RCV002461599] ChrX:154419570..154419571 [GRCh38]
ChrX:153647909..153647910 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.646+7C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002727219] ChrX:154420101 [GRCh38]
ChrX:153648440 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.239-18G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002881238] ChrX:154413189 [GRCh38]
ChrX:153641526 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.460+10G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002755788] ChrX:154414200 [GRCh38]
ChrX:153642537 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002882261] ChrX:154419735 [GRCh38]
ChrX:153648074 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.370+19G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003075644] ChrX:154413586 [GRCh38]
ChrX:153641923 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003034414] ChrX:154412129 [GRCh38]
ChrX:153640466 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.461-13C>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002838099] ChrX:154419530 [GRCh38]
ChrX:153647869 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002881499] ChrX:154420665 [GRCh38]
ChrX:153649004 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.461-18G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002750170] ChrX:154419525 [GRCh38]
ChrX:153647864 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002727014] ChrX:154412158 [GRCh38]
ChrX:153640495 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.370+2T>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002727098] ChrX:154413569 [GRCh38]
ChrX:153641906 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.584-9C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002685486] ChrX:154420023 [GRCh38]
ChrX:153648362 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.542-2A>T single nucleotide variant not provided [RCV002512424] ChrX:154419703 [GRCh38]
ChrX:153648042 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000116.5(TAFAZZIN):c.461-19A>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002755963] ChrX:154419524 [GRCh38]
ChrX:153647863 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.461-15G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002794817] ChrX:154419528 [GRCh38]
ChrX:153647867 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003103038]|Cardiovascular phenotype [RCV002463259] ChrX:154413567 [GRCh38]
ChrX:153641904 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_000116.5(TAFAZZIN):c.588C>T (p.Ile196=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003103040]|Cardiovascular phenotype [RCV002463264] ChrX:154420036 [GRCh38]
ChrX:153648375 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002882310] ChrX:154419606 [GRCh38]
ChrX:153647945 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003103037]|Cardiovascular phenotype [RCV002463253] ChrX:154420093 [GRCh38]
ChrX:153648432 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.274T>C (p.Leu92=) single nucleotide variant Cardiovascular phenotype [RCV002461392] ChrX:154413242 [GRCh38]
ChrX:153641579 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.647-14C>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003033735] ChrX:154420198 [GRCh38]
ChrX:153648537 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs) deletion 3-Methylglutaconic aciduria type 2 [RCV002617543] ChrX:154420033 [GRCh38]
ChrX:153648372 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.584-9C>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002663113] ChrX:154420023 [GRCh38]
ChrX:153648362 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003054584] ChrX:154412103 [GRCh38]
ChrX:153640440 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.132G>A (p.Val44=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003002855] ChrX:154412108 [GRCh38]
ChrX:153640445 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.348C>G (p.Gly116=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002622959] ChrX:154413545 [GRCh38]
ChrX:153641882 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs) deletion 3-Methylglutaconic aciduria type 2 [RCV002691046] ChrX:154420966..154420973 [GRCh38]
ChrX:153649305..153649312 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.228T>G (p.Pro76=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002910034] ChrX:154412204 [GRCh38]
ChrX:153640541 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002638223] ChrX:154420913 [GRCh38]
ChrX:153649252 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.699+15C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003037909] ChrX:154420279 [GRCh38]
ChrX:153648618 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002796905] ChrX:154420061 [GRCh38]
ChrX:153648400 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.633C>T (p.Pro211=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002796759] ChrX:154420081 [GRCh38]
ChrX:153648420 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.461-7C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002638001] ChrX:154419536 [GRCh38]
ChrX:153647875 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002867055] ChrX:154412093 [GRCh38]
ChrX:153640430 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002706479]|Cardiovascular phenotype [RCV003167662] ChrX:154420926 [GRCh38]
ChrX:153649265 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002619614] ChrX:154420710 [GRCh38]
ChrX:153649049 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002913648] ChrX:154412155 [GRCh38]
ChrX:153640492 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.109+15G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002620425] ChrX:154411967 [GRCh38]
ChrX:153640304 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.461-14C>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002659472] ChrX:154419529 [GRCh38]
ChrX:153647868 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.646+15G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002638156] ChrX:154420109 [GRCh38]
ChrX:153648448 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.238+1del deletion 3-Methylglutaconic aciduria type 2 [RCV002745444] ChrX:154412212 [GRCh38]
ChrX:153640549 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.238+7G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003082453] ChrX:154412221 [GRCh38]
ChrX:153640558 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.646+12G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002593661] ChrX:154420106 [GRCh38]
ChrX:153648445 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003057913] ChrX:154414115 [GRCh38]
ChrX:153642452 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.460+17G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002982972] ChrX:154414207 [GRCh38]
ChrX:153642544 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002894255] ChrX:154420980 [GRCh38]
ChrX:153649319 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.109+15del deletion 3-Methylglutaconic aciduria type 2 [RCV003041951] ChrX:154411966 [GRCh38]
ChrX:153640303 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.580_583+10del deletion 3-Methylglutaconic aciduria type 2 [RCV003022167] ChrX:154419742..154419755 [GRCh38]
ChrX:153648081..153648094 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002890965] ChrX:154420223 [GRCh38]
ChrX:153648562 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002957525] ChrX:154412121 [GRCh38]
ChrX:153640458 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.690C>A (p.Arg230=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003082900] ChrX:154420255 [GRCh38]
ChrX:153648594 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002741199] ChrX:154413505 [GRCh38]
ChrX:153641842 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002872271] ChrX:154420685 [GRCh38]
ChrX:153649024 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002700028] ChrX:154420937 [GRCh38]
ChrX:153649276 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.699+19C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002829800] ChrX:154420283 [GRCh38]
ChrX:153648622 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002572612] ChrX:154420059 [GRCh38]
ChrX:153648398 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002875570] ChrX:154419712 [GRCh38]
ChrX:153648051 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002929157] ChrX:154411844 [GRCh38]
ChrX:153640181 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.646+8T>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003083453] ChrX:154420102 [GRCh38]
ChrX:153648441 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.687C>T (p.Pro229=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003089808]|Cardiovascular phenotype [RCV003161764] ChrX:154420252 [GRCh38]
ChrX:153648591 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002899360] ChrX:154411935 [GRCh38]
ChrX:153640272 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002602062] ChrX:154413218 [GRCh38]
ChrX:153641555 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.239-17C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002716570] ChrX:154413190 [GRCh38]
ChrX:153641527 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.110-15C>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003091282] ChrX:154412071 [GRCh38]
ChrX:153640408 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.370+12del deletion 3-Methylglutaconic aciduria type 2 [RCV002648083] ChrX:154413578 [GRCh38]
ChrX:153641915 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.371-17T>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003010124] ChrX:154414084 [GRCh38]
ChrX:153642421 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002898653] ChrX:154411912 [GRCh38]
ChrX:153640249 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002646357] ChrX:154411943 [GRCh38]
ChrX:153640280 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.541+20_541+40dup duplication 3-Methylglutaconic aciduria type 2 [RCV002715190] ChrX:154419642..154419643 [GRCh38]
ChrX:153647981..153647982 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.460+10G>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002938672] ChrX:154414200 [GRCh38]
ChrX:153642537 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.284+5G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002627729] ChrX:154413257 [GRCh38]
ChrX:153641594 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_000116.5(TAFAZZIN):c.541+8G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003063184] ChrX:154419631 [GRCh38]
ChrX:153647970 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.239-11C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002770579] ChrX:154413196 [GRCh38]
ChrX:153641533 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.705C>A (p.Ile235=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003030253] ChrX:154420663 [GRCh38]
ChrX:153649002 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.846G>A (p.Glu282=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002716940] ChrX:154420971 [GRCh38]
ChrX:153649310 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002672147] ChrX:154412089 [GRCh38]
ChrX:153640426 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.285-14C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002857448] ChrX:154413468 [GRCh38]
ChrX:153641805 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003051305] ChrX:154411885 [GRCh38]
ChrX:153640222 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.579G>A (p.Lys193=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003051534] ChrX:154419742 [GRCh38]
ChrX:153648081 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.370+18C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002603838] ChrX:154413585 [GRCh38]
ChrX:153641922 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.189C>T (p.Leu63=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002635647] ChrX:154412165 [GRCh38]
ChrX:153640502 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs) deletion 3-Methylglutaconic aciduria type 2 [RCV003066416] ChrX:154419616 [GRCh38]
ChrX:153647955 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.542-6C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002605440] ChrX:154419699 [GRCh38]
ChrX:153648038 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003066417]|TAFAZZIN-related disorder [RCV004725491] ChrX:154419716 [GRCh38]
ChrX:153648055 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000116.5(TAFAZZIN):c.461-3C>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003050445] ChrX:154419540 [GRCh38]
ChrX:153647879 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.186C>G (p.Pro62=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002605816] ChrX:154412162 [GRCh38]
ChrX:153640499 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs) deletion 3-Methylglutaconic aciduria type 2 [RCV003052004] ChrX:154419736 [GRCh38]
ChrX:153648075 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.371-4G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002589935] ChrX:154414097 [GRCh38]
ChrX:153642434 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.461-10_461-5del deletion 3-Methylglutaconic aciduria type 2 [RCV003052459] ChrX:154419529..154419534 [GRCh38]
ChrX:153647868..153647873 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV002635035] ChrX:154414159 [GRCh38]
ChrX:153642496 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003093660]|Cardiovascular phenotype [RCV004673792] ChrX:154413235 [GRCh38]
ChrX:153641572 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.412C>T (p.Leu138=) single nucleotide variant Cardiovascular phenotype [RCV003187122] ChrX:154414142 [GRCh38]
ChrX:153642479 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003140877] ChrX:154414142 [GRCh38]
ChrX:153642479 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV003214133] ChrX:139586015..154774957 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003225678] ChrX:154419614 [GRCh38]
ChrX:153647953 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003329097] ChrX:154412191 [GRCh38]
ChrX:153640528 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.689G>T (p.Arg230Leu) single nucleotide variant Cardiovascular phenotype [RCV003382080] ChrX:154420254 [GRCh38]
ChrX:153648593 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.688C>T (p.Arg230Cys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003333539] ChrX:154420253 [GRCh38]
ChrX:153648592 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.699+6T>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003622968] ChrX:154420270 [GRCh38]
ChrX:153648609 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.370+16A>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003623119] ChrX:154413583 [GRCh38]
ChrX:153641920 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.552C>T (p.Asn184=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003623123] ChrX:154419715 [GRCh38]
ChrX:153648054 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003623270] ChrX:154420032 [GRCh38]
ChrX:153648371 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.138C>T (p.Asn46=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003825884]|not specified [RCV004526280] ChrX:154412114 [GRCh38]
ChrX:153640451 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.273G>A (p.Lys91=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003512537] ChrX:154413241 [GRCh38]
ChrX:153641578 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003623547] ChrX:154420247 [GRCh38]
ChrX:153648586 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003623630] ChrX:154420734 [GRCh38]
ChrX:153649073 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003623402] ChrX:154420669 [GRCh38]
ChrX:153649008 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.759G>A (p.Arg253=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003623463] ChrX:154420717 [GRCh38]
ChrX:153649056 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.646+12del deletion 3-Methylglutaconic aciduria type 2 [RCV003623569] ChrX:154420103 [GRCh38]
ChrX:153648442 [GRCh37]
ChrX:Xq28		 benign
NM_000116.5(TAFAZZIN):c.646+13A>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003623570] ChrX:154420107 [GRCh38]
ChrX:153648446 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.642T>C (p.His214=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003623660] ChrX:154420090 [GRCh38]
ChrX:153648429 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003623704] ChrX:154413519 [GRCh38]
ChrX:153641856 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003623869] ChrX:154420703 [GRCh38]
ChrX:153649042 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003622338] ChrX:154412130 [GRCh38]
ChrX:153640467 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.778-6C>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003622495] ChrX:154420897 [GRCh38]
ChrX:153649236 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.238+9G>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003622755] ChrX:154412223 [GRCh38]
ChrX:153640560 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.700-19C>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003622510] ChrX:154420639 [GRCh38]
ChrX:153648978 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.584-15C>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003622539] ChrX:154420017 [GRCh38]
ChrX:153648356 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003511868] ChrX:154419741 [GRCh38]
ChrX:153648080 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.461-22_461-14del deletion 3-Methylglutaconic aciduria type 2 [RCV003511890] ChrX:154419521..154419529 [GRCh38]
ChrX:153647860..153647868 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003623177] ChrX:154413565 [GRCh38]
ChrX:153641902 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.284+28G>A single nucleotide variant not provided [RCV003440053] ChrX:154413280 [GRCh38]
ChrX:153641617 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.284+36C>T single nucleotide variant not provided [RCV003440054] ChrX:154413288 [GRCh38]
ChrX:153641625 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.461-979C>T single nucleotide variant not provided [RCV003440055] ChrX:154418564 [GRCh38]
ChrX:153646903 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003621713]|not provided [RCV003482486] ChrX:154420660 [GRCh38]
ChrX:153648999 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:153613883-153862775)x3 copy number gain not provided [RCV003485333] ChrX:153613883..153862775 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.238+10C>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003622430] ChrX:154412224 [GRCh38]
ChrX:153640561 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 copy number loss not provided [RCV003483936] ChrX:148598351..154943978 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153549167-153858492)x2 copy number gain not provided [RCV003483990] ChrX:153549167..153858492 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153606456-153828848)x2 copy number gain not provided [RCV003483991] ChrX:153606456..153828848 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 copy number gain not provided [RCV003483986] ChrX:152916854..154775938 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 copy number loss not provided [RCV003483930] ChrX:119071609..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003513406] ChrX:154411896 [GRCh38]
ChrX:153640233 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.109+20G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003513767] ChrX:154411972 [GRCh38]
ChrX:153640309 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003825311] ChrX:154411871 [GRCh38]
ChrX:153640208 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.252C>T (p.Leu84=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003512680] ChrX:154413220 [GRCh38]
ChrX:153641557 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003623130] ChrX:154411888 [GRCh38]
ChrX:153640225 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.239-19A>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003511819] ChrX:154413188 [GRCh38]
ChrX:153641525 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.284+17C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003513153] ChrX:154413269 [GRCh38]
ChrX:153641606 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003513199] ChrX:154420961 [GRCh38]
ChrX:153649300 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003513382] ChrX:154420693 [GRCh38]
ChrX:153649032 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003513482] ChrX:154412209 [GRCh38]
ChrX:153640546 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003512973] ChrX:154412198 [GRCh38]
ChrX:153640535 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003512239]|not provided [RCV004593311] ChrX:154420056 [GRCh38]
ChrX:153648395 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.370+11C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003512545] ChrX:154413578 [GRCh38]
ChrX:153641915 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.700-14C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003511577] ChrX:154420644 [GRCh38]
ChrX:153648983 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.777+20C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003880684] ChrX:154420755 [GRCh38]
ChrX:153649094 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.285-5C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003512730] ChrX:154413477 [GRCh38]
ChrX:153641814 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.284+8_284+10del microsatellite 3-Methylglutaconic aciduria type 2 [RCV003513529] ChrX:154413255..154413257 [GRCh38]
ChrX:153641592..153641594 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.646+18G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003830401] ChrX:154420112 [GRCh38]
ChrX:153648451 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.110-18C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003622811] ChrX:154412068 [GRCh38]
ChrX:153640405 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.110-20G>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003623297] ChrX:154412066 [GRCh38]
ChrX:153640403 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003876019] ChrX:154413511 [GRCh38]
ChrX:153641848 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.258C>T (p.His86=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003512613] ChrX:154413226 [GRCh38]
ChrX:153641563 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.360T>C (p.Pro120=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003511570] ChrX:154413557 [GRCh38]
ChrX:153641894 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003622899] ChrX:154411945 [GRCh38]
ChrX:153640282 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003828240] ChrX:154414124 [GRCh38]
ChrX:153642461 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.705C>G (p.Ile235Met) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003486392] ChrX:154420663 [GRCh38]
ChrX:153649002 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.541+13_541+28del deletion 3-Methylglutaconic aciduria type 2 [RCV003512756] ChrX:154419636..154419651 [GRCh38]
ChrX:153647975..153647990 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003512506] ChrX:154411882 [GRCh38]
ChrX:153640219 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.322C>T (p.Leu108=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003513268] ChrX:154413519 [GRCh38]
ChrX:153641856 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003513726] ChrX:154419725 [GRCh38]
ChrX:153648064 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003512726] ChrX:154411928 [GRCh38]
ChrX:153640265 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003512996] ChrX:154411867 [GRCh38]
ChrX:153640204 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.584-11C>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003512465] ChrX:154420021 [GRCh38]
ChrX:153648360 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.700-1del deletion 3-Methylglutaconic aciduria type 2 [RCV003512474] ChrX:154420657 [GRCh38]
ChrX:153648996 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003827296] ChrX:154420683 [GRCh38]
ChrX:153649022 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.496T>C (p.Leu166=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003512409] ChrX:154419578 [GRCh38]
ChrX:153647917 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003511871]|Cardiovascular phenotype [RCV004676237] ChrX:154414101 [GRCh38]
ChrX:153642438 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003838362]|Cardiovascular phenotype [RCV004676303] ChrX:154413223 [GRCh38]
ChrX:153641560 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.646+20C>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003837565] ChrX:154420114 [GRCh38]
ChrX:153648453 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.541+13G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003810632] ChrX:154419636 [GRCh38]
ChrX:153647975 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.110-19A>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003833949] ChrX:154412067 [GRCh38]
ChrX:153640404 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003857328] ChrX:154411873 [GRCh38]
ChrX:153640210 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.239-6C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003622022] ChrX:154413201 [GRCh38]
ChrX:153641538 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.816G>A (p.Glu272=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003621796] ChrX:154420941 [GRCh38]
ChrX:153649280 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.684C>T (p.Phe228=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003621872] ChrX:154420249 [GRCh38]
ChrX:153648588 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:119395676-154930047) copy number loss not specified [RCV003986220] ChrX:119395676..154930047 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003821685] ChrX:154412138 [GRCh38]
ChrX:153640475 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.813A>G (p.Gln271=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003621874] ChrX:154420938 [GRCh38]
ChrX:153649277 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.700-13G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003621938] ChrX:154420645 [GRCh38]
ChrX:153648984 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.777+19C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003622054] ChrX:154420754 [GRCh38]
ChrX:153649093 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003622031] ChrX:154419599 [GRCh38]
ChrX:153647938 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.778-8del deletion 3-Methylglutaconic aciduria type 2 [RCV003847986] ChrX:154420893 [GRCh38]
ChrX:153649232 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.699+17G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003621898] ChrX:154420281 [GRCh38]
ChrX:153648620 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.135C>T (p.His45=) single nucleotide variant Cardiovascular phenotype [RCV004520487] ChrX:154412111 [GRCh38]
ChrX:153640448 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.781G>A (p.Glu261Lys) single nucleotide variant Cardiovascular phenotype [RCV004520489] ChrX:154420906 [GRCh38]
ChrX:153649245 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1 copy number loss not provided [RCV004442761] ChrX:121656905..155233098 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1 copy number loss See cases [RCV004442781] ChrX:125253445..155233098 [GRCh37]
ChrX:Xq25-28		 pathogenic
NC_000023.10:g.(?_153577217)_(153649343_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV004579984] ChrX:153577217..153649343 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_152954030)_(154005142_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV004582960]|Adrenoleukodystrophy [RCV004582961]|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV004582959]|Creatine transporter deficiency [RCV004582962]|Dyskeratosis congenita [RCV004582964]|Spastic paraplegia [RCV004582965]|X-linked Emery-Dreifuss muscular dystrophy [RCV004582963] ChrX:152954030..154005142 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_153592370)_(153775961_?)dup duplication 3-Methylglutaconic aciduria type 2 [RCV004578130] ChrX:153592370..153775961 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.166A>G (p.Lys56Glu) single nucleotide variant Cardiovascular phenotype [RCV004671165] ChrX:154412142 [GRCh38]
ChrX:153640479 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_153640181)_(153642547_?)dup duplication 3-Methylglutaconic aciduria type 2 [RCV004578141] ChrX:153640181..153642547 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.726C>T (p.Pro242=) single nucleotide variant Cardiovascular phenotype [RCV004681930] ChrX:154420684 [GRCh38]
ChrX:153649023 [GRCh37]
ChrX:Xq28		 likely benign
NM_000116.5(TAFAZZIN):c.560C>T (p.Ser187Phe) single nucleotide variant Cardiovascular phenotype [RCV004671166] ChrX:154419723 [GRCh38]
ChrX:153648062 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000116.5(TAFAZZIN):c.393G>C (p.Glu131Asp) single nucleotide variant not provided [RCV004725763] ChrX:154414123 [GRCh38]
ChrX:153642460 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hereditary factor VIII deficiency disease [RCV004768478] ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28		 uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x3 copy number gain Intellectual disability, X-linked 41 [RCV004776418] ChrX:154348522..154594454 [GRCh38]
ChrX:Xq28		 pathogenic
NM_000116.5(TAFAZZIN):c.797T>C (p.Leu266Pro) single nucleotide variant not provided [RCV004702010] ChrX:154420922 [GRCh38]
ChrX:153649261 [GRCh37]
ChrX:Xq28		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:12733
Count of miRNA genes:1346
Interacting mature miRNAs:1790
Transcripts:ENST00000299328, ENST00000350743, ENST00000351413, ENST00000369776, ENST00000369790, ENST00000369793, ENST00000426231, ENST00000426834, ENST00000433313, ENST00000439735, ENST00000445994, ENST00000454722, ENST00000455296, ENST00000465540, ENST00000470127, ENST00000475699, ENST00000476307, ENST00000476679, ENST00000476800, ENST00000479875, ENST00000480812, ENST00000483674, ENST00000483780, ENST00000494912, ENST00000498029
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, 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
SGC32232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,909 - 153,650,059UniSTSGRCh37
Build 36X153,303,103 - 153,303,253RGDNCBI36
CeleraX153,810,963 - 153,811,113RGD
Cytogenetic MapXq28UniSTS
HuRefX142,227,441 - 142,227,591UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
Whitehead-RH MapX323.1UniSTS
DXS7068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,644,860 - 153,644,953UniSTSGRCh37
Build 36X153,298,054 - 153,298,147RGDNCBI36
CeleraX153,805,914 - 153,806,007RGD
Cytogenetic MapXq28UniSTS
GDB:548776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,022 - 153,640,441UniSTSGRCh37
Build 36X153,293,216 - 153,293,635RGDNCBI36
CeleraX153,801,080 - 153,801,498RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,412 - 142,217,830UniSTS
G65814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,676 - 153,647,612UniSTSGRCh37
Build 36X153,299,870 - 153,300,806RGDNCBI36
CeleraX153,807,730 - 153,808,666RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,208 - 142,225,144UniSTS
G65811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,644,963 - 153,645,901UniSTSGRCh37
Build 36X153,298,157 - 153,299,095RGDNCBI36
CeleraX153,806,017 - 153,806,955RGD
Cytogenetic MapXq28UniSTS
HuRefX142,222,495 - 142,223,433UniSTS
ECD01292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,425 - 153,642,294UniSTSGRCh37
Build 36X153,294,619 - 153,295,488RGDNCBI36
CeleraX153,802,482 - 153,803,351RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,815 - 142,219,683UniSTS
ECD03579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,390 - 153,650,180UniSTSGRCh37
Build 36X153,302,584 - 153,303,374RGDNCBI36
CeleraX153,810,444 - 153,811,234RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,922 - 142,227,712UniSTS
ECD04044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,540 - 153,649,316UniSTSGRCh37
Build 36X153,301,734 - 153,302,510RGDNCBI36
CeleraX153,809,594 - 153,810,370RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,072 - 142,226,848UniSTS
ECD05101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,924 - 153,647,669UniSTSGRCh37
Build 36X153,300,118 - 153,300,863RGDNCBI36
CeleraX153,807,978 - 153,808,723RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,456 - 142,225,201UniSTS
ECD06610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,717 - 153,646,421UniSTSGRCh37
Build 36X153,298,911 - 153,299,615RGDNCBI36
CeleraX153,806,771 - 153,807,475RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,249 - 142,223,953UniSTS
ECD07224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,446 - 153,641,133UniSTSGRCh37
Build 36X153,293,640 - 153,294,327RGDNCBI36
CeleraX153,801,503 - 153,802,190RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,835 - 142,218,522UniSTS
ECD07887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,647,747 - 153,648,416UniSTSGRCh37
Build 36X153,300,941 - 153,301,610RGDNCBI36
CeleraX153,808,801 - 153,809,470RGD
Cytogenetic MapXq28UniSTS
HuRefX142,225,279 - 142,225,948UniSTS
ECD17423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,029 - 153,640,429UniSTSGRCh37
Build 36X153,293,223 - 153,293,623RGDNCBI36
CeleraX153,801,087 - 153,801,486RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,419 - 142,217,818UniSTS
ECD20550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,457 - 153,646,737UniSTSGRCh37
Build 36X153,299,651 - 153,299,931RGDNCBI36
CeleraX153,807,511 - 153,807,791RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,989 - 142,224,269UniSTS
REN89462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,637,883 - 153,638,111UniSTSGRCh37
Build 36X153,291,077 - 153,291,305RGDNCBI36
CeleraX153,798,943 - 153,799,171RGD
Cytogenetic MapXq28UniSTS
HuRefX142,215,274 - 142,215,501UniSTS
REN89463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,638,063 - 153,638,303UniSTSGRCh37
Build 36X153,291,257 - 153,291,497RGDNCBI36
CeleraX153,799,123 - 153,799,363RGD
Cytogenetic MapXq28UniSTS
HuRefX142,215,453 - 142,215,693UniSTS
REN89464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,638,178 - 153,638,415UniSTSGRCh37
Build 36X153,291,372 - 153,291,609RGDNCBI36
CeleraX153,799,238 - 153,799,475RGD
Cytogenetic MapXq28UniSTS
HuRefX142,215,568 - 142,215,805UniSTS
REN89465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,639,278 - 153,639,504UniSTSGRCh37
Build 36X153,292,472 - 153,292,698RGDNCBI36
CeleraX153,800,337 - 153,800,563RGD
Cytogenetic MapXq28UniSTS
HuRefX142,216,668 - 142,216,894UniSTS
REN89466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,639,312 - 153,639,573UniSTSGRCh37
Build 36X153,292,506 - 153,292,767RGDNCBI36
CeleraX153,800,371 - 153,800,632RGD
Cytogenetic MapXq28UniSTS
HuRefX142,216,702 - 142,216,963UniSTS
REN89467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,639,514 - 153,639,739UniSTSGRCh37
Build 36X153,292,708 - 153,292,933RGDNCBI36
CeleraX153,800,573 - 153,800,798RGD
Cytogenetic MapXq28UniSTS
HuRefX142,216,904 - 142,217,129UniSTS
REN89468  
Human AssemblyChrPosition (strand)SourceJBrowse
CeleraX153,800,766 - 153,801,030RGD
Cytogenetic MapXq28UniSTS
REN89469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,030 - 153,640,292UniSTSGRCh37
Build 36X153,293,224 - 153,293,486RGDNCBI36
CeleraX153,801,088 - 153,801,349RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,420 - 142,217,681UniSTS
REN89470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,274 - 153,640,531UniSTSGRCh37
Build 36X153,293,468 - 153,293,725RGDNCBI36
CeleraX153,801,331 - 153,801,588RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,663 - 142,217,920UniSTS
REN89471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,529 - 153,640,774UniSTSGRCh37
Build 36X153,293,723 - 153,293,968RGDNCBI36
CeleraX153,801,586 - 153,801,831RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,918 - 142,218,163UniSTS
REN89472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,722 - 153,640,983UniSTSGRCh37
Build 36X153,293,916 - 153,294,177RGDNCBI36
CeleraX153,801,779 - 153,802,040RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,111 - 142,218,372UniSTS
REN89473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,960 - 153,641,209UniSTSGRCh37
Build 36X153,294,154 - 153,294,403RGDNCBI36
CeleraX153,802,017 - 153,802,266RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,349 - 142,218,598UniSTS
REN89474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,185 - 153,641,429UniSTSGRCh37
Build 36X153,294,379 - 153,294,623RGDNCBI36
CeleraX153,802,242 - 153,802,486RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,574 - 142,218,819UniSTS
REN89475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,399 - 153,641,650UniSTSGRCh37
Build 36X153,294,593 - 153,294,844RGDNCBI36
CeleraX153,802,456 - 153,802,707RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,789 - 142,219,039UniSTS
REN89476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,648 - 153,641,879UniSTSGRCh37
Build 36X153,294,842 - 153,295,073RGDNCBI36
CeleraX153,802,705 - 153,802,936RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,037 - 142,219,268UniSTS
REN89477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,849 - 153,642,098UniSTSGRCh37
Build 36X153,295,043 - 153,295,292RGDNCBI36
CeleraX153,802,906 - 153,803,155RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,238 - 142,219,487UniSTS
REN89478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,642,076 - 153,642,341UniSTSGRCh37
Build 36X153,295,270 - 153,295,535RGDNCBI36
CeleraX153,803,133 - 153,803,398RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,465 - 142,219,730UniSTS
REN89479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,642,340 - 153,642,592UniSTSGRCh37
Build 36X153,295,534 - 153,295,786RGDNCBI36
CeleraX153,803,397 - 153,803,649RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,729 - 142,219,981UniSTS
REN89480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,642,528 - 153,642,753UniSTSGRCh37
Build 36X153,295,722 - 153,295,947RGDNCBI36
CeleraX153,803,585 - 153,803,810RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,917 - 142,220,142UniSTS
REN89481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,643,222 - 153,643,477UniSTSGRCh37
Build 36X153,296,416 - 153,296,671RGDNCBI36
CeleraX153,804,278 - 153,804,533RGD
Cytogenetic MapXq28UniSTS
HuRefX142,220,610 - 142,220,865UniSTS
REN89482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,643,378 - 153,643,633UniSTSGRCh37
Build 36X153,296,572 - 153,296,827RGDNCBI36
CeleraX153,804,434 - 153,804,689RGD
Cytogenetic MapXq28UniSTS
HuRefX142,220,766 - 142,221,021UniSTS
REN89483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,643,602 - 153,643,849UniSTSGRCh37
Build 36X153,296,796 - 153,297,043RGDNCBI36
CeleraX153,804,658 - 153,804,906RGD
Cytogenetic MapXq28UniSTS
HuRefX142,220,990 - 142,221,238UniSTS
REN89484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,643,826 - 153,644,055UniSTSGRCh37
Build 36X153,297,020 - 153,297,249RGDNCBI36
CeleraX153,804,883 - 153,805,112RGD
Cytogenetic MapXq28UniSTS
HuRefX142,221,215 - 142,221,444UniSTS
REN89485  
Human AssemblyChrPosition (strand)SourceJBrowse
CeleraX153,805,139 - 153,805,372RGD
Cytogenetic MapXq28UniSTS
HuRefX142,221,472 - 142,221,705UniSTS
REN89486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,644,786 - 153,645,014UniSTSGRCh37
Build 36X153,297,980 - 153,298,208RGDNCBI36
CeleraX153,805,840 - 153,806,068RGD
Cytogenetic MapXq28UniSTS
REN89487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,644,966 - 153,645,193UniSTSGRCh37
Build 36X153,298,160 - 153,298,387RGDNCBI36
CeleraX153,806,020 - 153,806,247RGD
Cytogenetic MapXq28UniSTS
HuRefX142,222,498 - 142,222,725UniSTS
REN89488  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,501 - 153,645,725UniSTSGRCh37
Build 36X153,298,695 - 153,298,919RGDNCBI36
CeleraX153,806,555 - 153,806,779RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,033 - 142,223,257UniSTS
REN89489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,723 - 153,645,971UniSTSGRCh37
Build 36X153,298,917 - 153,299,165RGDNCBI36
CeleraX153,806,777 - 153,807,025RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,255 - 142,223,503UniSTS
REN89490  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,965 - 153,646,230UniSTSGRCh37
Build 36X153,299,159 - 153,299,424RGDNCBI36
CeleraX153,807,019 - 153,807,284RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,497 - 142,223,762UniSTS
REN89491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,205 - 153,646,466UniSTSGRCh37
Build 36X153,299,399 - 153,299,660RGDNCBI36
CeleraX153,807,259 - 153,807,520RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,737 - 142,223,998UniSTS
REN89492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,443 - 153,646,693UniSTSGRCh37
Build 36X153,299,637 - 153,299,887RGDNCBI36
CeleraX153,807,497 - 153,807,747RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,975 - 142,224,225UniSTS
REN89493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,669 - 153,646,893UniSTSGRCh37
Build 36X153,299,863 - 153,300,087RGDNCBI36
CeleraX153,807,723 - 153,807,947RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,201 - 142,224,425UniSTS
REN89494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,839 - 153,647,101UniSTSGRCh37
Build 36X153,300,033 - 153,300,295RGDNCBI36
CeleraX153,807,893 - 153,808,155RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,371 - 142,224,633UniSTS
REN89495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,647,100 - 153,647,350UniSTSGRCh37
Build 36X153,300,294 - 153,300,544RGDNCBI36
CeleraX153,808,154 - 153,808,404RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,632 - 142,224,882UniSTS
REN89496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,647,327 - 153,647,580UniSTSGRCh37
Build 36X153,300,521 - 153,300,774RGDNCBI36
CeleraX153,808,381 - 153,808,634RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,859 - 142,225,112UniSTS
REN89497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,647,557 - 153,647,813UniSTSGRCh37
Build 36X153,300,751 - 153,301,007RGDNCBI36
CeleraX153,808,611 - 153,808,867RGD
Cytogenetic MapXq28UniSTS
HuRefX142,225,089 - 142,225,345UniSTS
REN89498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,647,799 - 153,648,062UniSTSGRCh37
Build 36X153,300,993 - 153,301,256RGDNCBI36
CeleraX153,808,853 - 153,809,116RGD
Cytogenetic MapXq28UniSTS
HuRefX142,225,331 - 142,225,594UniSTS
REN89499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,041 - 153,648,287UniSTSGRCh37
Build 36X153,301,235 - 153,301,481RGDNCBI36
CeleraX153,809,095 - 153,809,341RGD
Cytogenetic MapXq28UniSTS
HuRefX142,225,573 - 142,225,819UniSTS
REN89500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,262 - 153,648,503UniSTSGRCh37
Build 36X153,301,456 - 153,301,697RGDNCBI36
CeleraX153,809,316 - 153,809,557RGD
Cytogenetic MapXq28UniSTS
HuRefX142,225,794 - 142,226,035UniSTS
REN89501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,480 - 153,648,729UniSTSGRCh37
Build 36X153,301,674 - 153,301,923RGDNCBI36
CeleraX153,809,534 - 153,809,783RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,012 - 142,226,261UniSTS
REN89502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,722 - 153,648,968UniSTSGRCh37
Build 36X153,301,916 - 153,302,162RGDNCBI36
CeleraX153,809,776 - 153,810,022RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,254 - 142,226,500UniSTS
REN89503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,849 - 153,649,083UniSTSGRCh37
Build 36X153,302,043 - 153,302,277RGDNCBI36
CeleraX153,809,903 - 153,810,137RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,381 - 142,226,615UniSTS
REN89504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,060 - 153,649,300UniSTSGRCh37
Build 36X153,302,254 - 153,302,494RGDNCBI36
CeleraX153,810,114 - 153,810,354RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,592 - 142,226,832UniSTS
REN89505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,291 - 153,649,528UniSTSGRCh37
Build 36X153,302,485 - 153,302,722RGDNCBI36
CeleraX153,810,345 - 153,810,582RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,823 - 142,227,060UniSTS
REN89506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,501 - 153,649,763UniSTSGRCh37
Build 36X153,302,695 - 153,302,957RGDNCBI36
CeleraX153,810,555 - 153,810,817RGD
Cytogenetic MapXq28UniSTS
HuRefX142,227,033 - 142,227,295UniSTS
REN89507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,753 - 153,649,998UniSTSGRCh37
Build 36X153,302,947 - 153,303,192RGDNCBI36
CeleraX153,810,807 - 153,811,052RGD
Cytogenetic MapXq28UniSTS
HuRefX142,227,285 - 142,227,530UniSTS
REN89508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,975 - 153,650,237UniSTSGRCh37
Build 36X153,303,169 - 153,303,431RGDNCBI36
CeleraX153,811,029 - 153,811,291RGD
Cytogenetic MapXq28UniSTS
HuRefX142,227,507 - 142,227,769UniSTS
REN89509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,650,217 - 153,650,464UniSTSGRCh37
Build 36X153,303,411 - 153,303,658RGDNCBI36
CeleraX153,811,271 - 153,811,518RGD
Cytogenetic MapXq28UniSTS
stSG604031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,269 - 153,641,444UniSTSGRCh37
Build 36X153,293,463 - 153,294,638RGDNCBI36
CeleraX153,801,326 - 153,802,501RGD
HuRefX142,217,658 - 142,218,834UniSTS
stSG604032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,443 - 153,642,453UniSTSGRCh37
Build 36X153,294,637 - 153,295,647RGDNCBI36
CeleraX153,802,500 - 153,803,510RGD
stSG604033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,642,452 - 153,643,846UniSTSGRCh37
Build 36X153,295,646 - 153,297,040RGDNCBI36
CeleraX153,803,509 - 153,804,903RGD
HuRefX142,219,841 - 142,221,235UniSTS
stSG604034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,644,260 - 153,645,736UniSTSGRCh37
Build 36X153,297,454 - 153,298,930RGDNCBI36
CeleraX153,805,314 - 153,806,790RGD
HuRefX142,221,647 - 142,223,268UniSTS
stSG604035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,732 - 153,646,891UniSTSGRCh37
Build 36X153,298,926 - 153,300,085RGDNCBI36
CeleraX153,806,786 - 153,807,945RGD
HuRefX142,223,264 - 142,224,423UniSTS
stSG604036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,872 - 153,648,105UniSTSGRCh37
Build 36X153,300,066 - 153,301,299RGDNCBI36
CeleraX153,807,926 - 153,809,159RGD
HuRefX142,224,404 - 142,225,637UniSTS
stSG604037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,086 - 153,649,572UniSTSGRCh37
Build 36X153,301,280 - 153,302,766RGDNCBI36
CeleraX153,809,140 - 153,810,626RGD
HuRefX142,225,618 - 142,227,104UniSTS
TAZ__5218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,435 - 153,650,228UniSTSGRCh37
Build 36X153,302,629 - 153,303,422RGDNCBI36
CeleraX153,810,489 - 153,811,282RGD
HuRefX142,226,967 - 142,227,760UniSTS
DXS7010E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,749 - 153,649,900UniSTSGRCh37
Build 36X153,302,943 - 153,303,094RGDNCBI36
CeleraX153,810,803 - 153,810,954RGD
Cytogenetic MapXq28UniSTS
HuRefX142,227,281 - 142,227,432UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
G54832  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,945 - 153,646,878UniSTSGRCh37
CeleraX153,806,999 - 153,807,932UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,223,477 - 142,224,410UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_024048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC244090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL531401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY231461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY231462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY231463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY231464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI822925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX401320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX936347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA488175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN478633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB192394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ1736