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Recognized gene
ABCA4, ABCG5, ACADVL, ACSF3, ACY1 and 18 more
Normalized c.HGVS
c.1055T>C, c.1073C>T, c.107A>G, c.10832A>G, c.10942G>A and 44 more
Normalized p.HGVS
p.(Ala1039Val), p.(Ala1152Val), p.(Ala247Pro), p.(Ala391Thr), p.(Ala48Thr) and 40 more
Matching records
872
PM3-positive records
47
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 | |
| SLC26A4 |
NM_000441.2:c.2059G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with 2000T>G; V609G
context: Compound heterozygous candidate
|
22116359
Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology, 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 | |
| WDR62 |
NM_001083961.2:c.1576G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
21961505
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly.
BMC neurology, 2011
|
Main article | |
| ERCC2 |
NM_000400.4:c.806C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
21951951
Acute myeloid leukemia of donor origin after allogeneic stem cell transplantation from a sibling who harbors germline XPD and XRCC3 homozygous polymorphisms.
Journal of hematology & oncology, 2011
|
Main article | |
| SMARCAL1 |
NM_014140.4:c.2321C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with V641GfsX50
context: Compound heterozygous candidate
|
21914180
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.
Pediatric rheumatology online journal, 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.11416G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with D544Y; G341R; I4938T
context: Compound heterozygous candidate
|
21795085
Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.
Molecular genetics and metabolism, 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 | |
| RYR1 |
NM_000540.3:c.14693T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with D2730G
context: Compound heterozygous candidate
|
21795085
Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.
Molecular genetics and metabolism, 2011
|
Main article | |
| RYR1 |
NM_000540.3:c.14813T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with A2350T; D2730G; D544Y; +16 more
context: Compound heterozygous candidate
|
21795085
Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.
Molecular genetics and metabolism, 2011
|
Main article | |
| ATM |
NM_000051.4:c.7271T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
21792198
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
British journal of cancer, 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 | |
| MUTYH |
NM_001048174.2:c.14G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
21777424
High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene.
BMC cancer, 2011
|
Main article | |