Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
COL18A1, DHCR7, FANCC, FAT4, GAA and 7 more
Normalized c.HGVS
c.1004C>T, c.10183C>T, c.1088G>A, c.1103G>T, c.11184C>G and 45 more
Normalized p.HGVS
p.(=), p.(Ala137Val), p.(Ala24Thr), p.(Ala38Ser), p.(Ala38Thr) and 44 more
Matching records
6953
PM3-positive records
103
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 | |
| 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: Confirmed in trans
|
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 | |
| 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 | |
| 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 | |
| PDE6B |
NM_000283.4:c.292C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2093_2094insCCTGT; c.2116A>T; p.(Leu701Cysfs*14); +1 more
context: Compound heterozygous candidate
|
26667666
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Scientific reports, 2015
|
Main article | |
| GRM6 |
NM_000843.4:c.2240C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.727G>T; p.(Val243Phe)
context: Compound heterozygous candidate
|
26667666
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Scientific reports, 2015
|
Main article | |
| EYS |
NM_001142800.2:c.3250A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
26667666
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Scientific reports, 2015
|
Main article | |
| EYS |
NM_001142800.2:c.4402G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3443+1G>T; p.?
context: Compound heterozygous candidate
|
26667666
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Scientific reports, 2015
|
Main article | |
| TULP1 |
NM_003322.6:c.1495C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1213G>C; p.(Ala405Pro)
context: Compound heterozygous candidate
|
26667666
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Scientific reports, 2015
|
Main article | |
| USH2A |
NM_206933.4:c.9921T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.13010C>T; p.(Thr4337Met)
context: Compound heterozygous candidate
|
26667666
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Scientific reports, 2015
|
Main article | |
| PAH |
NM_000277.3:c.1171A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1169A>G; c.194T>C; Glu390Gly; +1 more
context: Compound heterozygous candidate
|
26666653
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Orphanet journal of rare diseases, 2015
|
Main article | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
26666653
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Orphanet journal of rare diseases, 2015
|
Main article | |
| PAH |
NM_000277.3:c.493G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.1169A > G; Glu390Gly
context: Compound heterozygous candidate
|
26666653
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Orphanet journal of rare diseases, 2015
|
Main article | |