ClinVar Miner

Variants from Kids Research, The Children's Hospital at Westmead

Location: Australia  Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
19 29 7 0 0 55

Gene and significance breakdown #

Total genes and gene combinations: 32
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
LARS2 0 7 1 8
ACAD9 1 2 0 3
ATP2B1 0 2 0 2
BCS1L 0 0 2 2
COX10 1 1 0 2
ECHS1 0 2 0 2
EPG5 1 1 0 2
G6PC1 1 1 0 2
GFM1 1 1 0 2
MECR 2 0 0 2
NBAS 0 2 0 2
PNPT1 2 0 0 2
RARS2 0 0 2 2
SERAC1 2 0 0 2
SKIC2 2 0 0 2
SLC5A6 0 2 0 2
ARX 0 1 0 1
CLPB 0 0 1 1
CTSB, FDFT1, LOC116186920, LOC116186921, LOC121268921, LOC129999908, LOC129999909, LOC129999910, LOC129999911, LOC129999912, LOC129999913, LOC129999914 0 1 0 1
FDFT1 0 1 0 1
FDFT1, LOC129999903 0 1 0 1
HRAS, LRRC56 1 0 0 1
LOC130000896, RRM2B 1 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 1
MT-CO2 0 0 1 1
MT-TE 1 0 0 1
MT-TL1 1 0 0 1
MT-TS1 0 1 0 1
PET100, STXBP2 1 0 0 1
RLIM 0 1 0 1
RRM2B 0 1 0 1
SLC39A8 0 1 0 1

Condition and significance breakdown #

Total conditions: 29
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 0 4 0 4
Acyl-CoA dehydrogenase 9 deficiency 1 2 0 3
Inborn mitochondrial myopathy 1 1 1 3
Mitochondrial complex IV deficiency, nuclear type 1 2 1 0 3
Squalene synthase deficiency 0 3 0 3
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2 0 0 2
Clubfoot; Isolated Pierre-Robin syndrome; Periventricular nodular heterotopia; Hypocalcemia; Neurodevelopmental delay 0 2 0 2
Combined oxidative phosphorylation defect type 13; Autosomal recessive nonsyndromic hearing loss 70 2 0 0 2
Decreased activity of mitochondrial complex III 0 0 2 2
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 2 0 0 2
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1 1 0 2
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 1 1 0 2
Infantile liver failure syndrome 2 0 2 0 2
Mitochondrial DNA depletion syndrome 8a 1 1 0 2
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0 2 0 2
Neurodegeneration, infantile-onset, biotin-responsive 0 2 0 2
Perrault syndrome 4 0 2 0 2
Pontocerebellar hypoplasia type 6 0 0 2 2
Trichohepatoenteric syndrome 2 2 0 0 2
Vici syndrome 1 1 0 2
3-methylglutaconic aciduria, type VIIB 0 0 1 1
Costello syndrome 1 0 0 1
Decreased activity of mitochondrial complex IV 0 0 1 1
Developmental and epileptic encephalopathy, 1 0 1 0 1
Intellectual disability, X-linked 61 0 1 0 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 1 0 0 1
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 1 0 0 1
SLC39A8-CDG 0 1 0 1
neonatal lactic acidosis 0 1 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.