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Recognized gene
ASPM, ATP6V0A2, BBS1, BBS12, BBS2 and 30 more
Normalized c.HGVS
c.1103G>T, c.1168C>G, c.1177G>A, c.1186C>T, c.1271A>G and 45 more
Normalized p.HGVS
p.(=), p.(Ala4875Gly), p.(Ala587Glu), p.(Ala631Thr), p.(Ala636GlyfsTer16) and 44 more
Matching records
805
PM3-positive records
29
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 |
|---|---|---|---|---|---|---|
| PKLR |
NM_000298.6:c.1706G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1022G>C; G341A; Gly341Ala
context: Confirmed in trans
|
21794208
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.
Discovery medicine, 2011
|
Main article | |
| SEC23B |
NM_006363.6:c.1254T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
22208203
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
Orphanet journal of rare diseases, 2011
|
Main article | |
| EYS |
NM_001142800.2:c.3695T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1767-?_2023+?del; c.1971delT; p.C590YfsX4; +3 more
context: Compound heterozygous candidate
|
22164218
Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.
PloS one, 2011
|
Main article | |
| BRCA1 |
NM_007294.4:c.4730C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
22034435
BRCA1 tumor suppression depends on BRCT phosphoprotein binding, but not its E3 ligase activity.
Science (New York, N.Y.), 2011
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1169G>A; c.1331G>A; c.243C>G; +7 more
context: Compound heterozygous candidate
|
21850185
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.
Molecular vision, 2011
|
Main article | |
| CYP1B1 |
NM_000104.4:c.985G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.[970_971dupAT]; T325SfsX104; p.R390H; +2 more
context: Compound heterozygous candidate
|
21850185
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.
Molecular vision, 2011
|
Main article | |
| PEX1 |
NM_000466.3:c.724G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with 2nd mutation?
context: Compound heterozygous candidate
|
21846392
Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.
BMC medical genetics, 2011
|
Main article | |
| ACSF3 |
NM_001243279.3:c.1073C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1412G>A; p.Arg471Gln
context: Compound heterozygous candidate
|
21841779
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Nature genetics, 2011
|
Main article | |
| GBA1 |
NM_000157.4:c.535G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.10936G>A; c.586A>C; p.Glu326Lys; +1 more
context: Compound heterozygous candidate
|
21796727
A mutation in SCARB2 is a modifier in Gaucher disease.
Human mutation, 2011
|
Main article | |
| RYR1 |
NM_000540.3:c.1209C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with R2336H
context: Compound heterozygous candidate
|
21795085
Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.
Molecular genetics and metabolism, 2011
|
Main article | |
| PLEC |
NM_201384.3:c.1957G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1262G>C; p.Trp421Ser
context: Compound heterozygous candidate
|
21786365
Functional consequences and structural interpretation of mutations of human choline acetyltransferase.
Human mutation, 2011
|
Main article | |
| NBEAL2 |
NM_015175.3:c.2044A>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
21765411
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
Nature genetics, 2011
|
Main article | |
| FIG4 |
NM_014845.6:c.50T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with F254SfsX7
context: Compound heterozygous candidate
|
21705420
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
Brain : a journal of neurology, 2011
|
Main article | |
| CTNS |
NM_004937.3:c.970G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
21701589
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
PloS one, 2011
|
Supplementary material | |
| WDR62 |
NM_001083961.2:c.3232G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
21668957
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.
Orphanet journal of rare diseases, 2011
|
Main article | |
| CANT1 |
NM_001159773.2:c.336C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
21654728
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.
European journal of human genetics : EJHG, 2011
|
Main article | |
| SPATA7 |
NM_018418.5:c.995T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
21602930
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
PloS one, 2011
|
Main article | |
| WFS1 |
NM_006005.3:c.2385G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2390 A>T; p.D797V
context: Compound heterozygous candidate
|
21602428
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.
Diabetes care, 2011
|
Main article | |
| CYB5R3 |
NM_000398.7:c.63T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
21349748
Molecular basis of two novel mutations found in type I methemoglobinemia.
Blood cells, molecules & diseases, 2011
|
Main article | |
| TTC21B |
NM_024753.5:c.1231C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with L795P
context: Compound heterozygous candidate
|
21258341
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Nature genetics, 2011
|
Main article | |