Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
AARS1, AARS2, ABAT, ABCA3, ABCA4 and 1 more
Normalized c.HGVS
c.1054G>A, c.1182G>A (p.Met394Ile), c.1317G>C, c.1336G>A, c.1423G>A and 43 more
Normalized p.HGVS
p.(Ala226Val), p.(Ala549Thr), p.(Arg198Trp), p.(Arg320Cys), p.(Arg320Gly) and 32 more
Matching records
7018
PM3-positive records
157
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| RYR1 |
NM_000540.3:c.1453A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.325C>T; c.7308_7309delTG; p.Arg109Trp
context: Confirmed in trans
|
27858727
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years.
Journal of neuromuscular diseases, 2015
|
Main article | |
| UNC13D |
NM_199242.3:c.859-3C>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with c.2955-2A > G
context: Confirmed in trans
|
26419432
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Genome medicine, 2015
|
Main article | |
| SPEG |
NM_005876.5:c.4181A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.6854C>T; p.P2285L
context: Confirmed in trans
|
26302956
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Orphanet journal of rare diseases, 2015
|
Main article | |
| IFT81 |
NM_014055.4:c.2015_2019del
|
Phase-confirmed PM3 evidence
Not assessed
|
Homozygous for query variant
context: Homozygous evidence
|
26275418
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.
Journal of medical genetics, 2015
|
Main article | |
| TRMT5 |
NM_020810.3:c.872G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.312_315del; p.Ile105Serfs∗4
context: Confirmed in trans
|
26189817
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.
American journal of human genetics, 2015
|
Main article | |
| NTRK1 |
NM_002529.4:c.2141G>A
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with c.1635G>C; p.Ala527Pro
context: Confirmed in trans
|
25984678
Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report.
Medicine, 2015
|
Main article | |
| MARS2 |
NM_138395.4:c.424C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.550C>T; Gln184*
context: Confirmed in trans
|
25754315
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.
Human mutation, 2015
|
Main article | |
| PKLR |
NM_000298.6:c.1706G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1022G>C; p.G341A
context: Confirmed in trans
|
25587064
SeqHBase: a big data toolset for family based sequencing data analysis.
Journal of medical genetics, 2015
|
Main article | |
| GNE |
NM_005476.7:c.1742G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
27858732
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.
Journal of neuromuscular diseases, 2015
|
Supplementary material | |
| MED12 |
NM_005120.3:c.3067A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
27081531
A novel MED12 mutation associated with non-specific X-linked intellectual disability.
Human genome variation, 2015
|
Main article | |
| CAPN3 |
NM_000070.3:c.1715G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
27066545
Respiratory chain deficiency in nonmitochondrial disease.
Neurology. Genetics, 2015
|
Main article | |
| BLM |
NM_000057.4:c.2887C>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
26788541
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.
Molecular genetics & genomic medicine, 2015
|
Main article | |
| BLM |
NM_000057.4:c.2887C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
26788541
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.
Molecular genetics & genomic medicine, 2015
|
Main article | |
| BLM |
NM_000057.4:c.2915G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
26788541
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.
Molecular genetics & genomic medicine, 2015
|
Main article | |
| BLM |
NM_000057.4:c.3191A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
26788541
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.
Molecular genetics & genomic medicine, 2015
|
Main article | |
| BLM |
NM_000057.4:c.3358G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with P868L; R791C
context: Compound heterozygous candidate
|
26788541
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.
Molecular genetics & genomic medicine, 2015
|
Supplementary material | |
| FANCC |
NM_000136.3:c.689AGA[1]
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with c.37C>T; p.(Gln13*)
context: Compound heterozygous candidate
|
26740942
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
Molecular genetics & genomic medicine, 2015
|
Main article | |
| FANCI |
NM_001113378.2:c.2203A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.784-27del; generation of acceptor splice site
context: Compound heterozygous candidate
|
26740942
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
Molecular genetics & genomic medicine, 2015
|
Supplementary material | |
| FANCL |
NM_018062.4:c.50C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1021T>A; c.676C>T; Arg226Cys; +1 more
context: Compound heterozygous candidate
|
26740942
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
Molecular genetics & genomic medicine, 2015
|
Supplementary material | |
| FANCM |
NM_020937.4:c.874C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5848T>G; p.(Leu1950Val)
context: Compound heterozygous candidate
|
26740942
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
Molecular genetics & genomic medicine, 2015
|
Supplementary material | |