GLEAM-DB

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Input query
Recognized gene
ABCA4, ACE, ALAD, ATM, ATP1A2 and 13 more
Normalized c.HGVS
c.-103T>C, c.1103G>A, c.1245C>A, c.1373G>A, c.146C>T and 41 more
Normalized p.HGVS
p.(Ala1172Pro), p.(Ala1172Ser), p.(Ala1752Thr), p.(Ala226Pro), p.(Ala531Pro) and 40 more
Matching records
162
PM3-positive records
6

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.

Download current query results as TSV
Gene Variant Evidence PM3 context Publication Reviewed source Actions
RYR1 NM_000540.3:c.14693T>C Phase-unconfirmed biallelic evidence
Needs review
Homozygous for query variant
context: Homozygous evidence
 18003898
An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line.
Proceedings of the National Academy of Sciences of the United States of America, 2007
 Main article
Open
CYP1B1 NM_000104.4:c.1103G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with G329V; G61E; R390H
context: Compound heterozygous candidate
 17591938
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.
The Journal of molecular diagnostics : JMD, 2007
 Main article
Open
CYP1B1 NM_000104.4:c.1103G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.875T>A; Met292Lys; Pro193Leu
context: Compound heterozygous candidate
 17563717
Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.
Molecular vision, 2007
 Main article
Open
PRF1 NM_001083116.3:c.529C>T Phase-unconfirmed biallelic evidence
High confidence
Confirmed in trans with c.272C>T; A91V
context: Confirmed in trans
 17477373
Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma.
Cancer, 2007
 Main article
Open
CBS NM_000071.3:c.306G>C Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with E239K
context: Compound heterozygous candidate
 17352495
A pathogenic linked mutation in the catalytic core of human cystathionine beta-synthase disrupts allosteric regulation and allows kinetic characterization of a full-length dimer.
Biochemistry, 2007
 Main article
Open
ALAD NM_000031.6:c.823G>A Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with G133R
context: Compound heterozygous candidate
 17236137
ALAD porphyria is a conformational disease.
American journal of human genetics, 2007
 Main article
Open
MLH1 NM_000249.4:c.472A>C Other Patient-Level Evidence
Needs review
Patient-level evidence found, not PM3
context: Other patient-level evidence
 16902769
Novel hMSH2, hMSH6 and hMLH1 gene mutations and microsatellite instability in sporadic colorectal cancer.
Journal of cancer research and clinical oncology, 2007
 Main article
Open
ITPA NM_033453.4:c.509C>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 32288473
Status presens of antiviral drugs and strategies: Part II: RNA VIRUSES (EXCEPT RETROVIRUSES).
Advances in antiviral drug design, 2007
 Main article
Open
MUTYH NM_001048174.2:c.1103G>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 19725997
Base excision repair and the role of MUTYH.
Hereditary cancer in clinical practice, 2007
 Main article
Open
MUTYH NM_001048174.2:c.1225C>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 19725997
Base excision repair and the role of MUTYH.
Hereditary cancer in clinical practice, 2007
 Main article
Open
MUTYH NM_001048174.2:c.229G>C No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 19725997
Base excision repair and the role of MUTYH.
Hereditary cancer in clinical practice, 2007
 Main article
Open
MUTYH NM_001048174.2:c.229G>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 19725997
Base excision repair and the role of MUTYH.
Hereditary cancer in clinical practice, 2007
 Main article
Open
MUTYH NM_001048174.2:c.427A>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 19725997
Base excision repair and the role of MUTYH.
Hereditary cancer in clinical practice, 2007
 Main article
Open
MUTYH NM_001048174.2:c.502G>C No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 19725997
Base excision repair and the role of MUTYH.
Hereditary cancer in clinical practice, 2007
 Main article
Open
MUTYH NM_001048174.2:c.544C>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 19725997
Base excision repair and the role of MUTYH.
Hereditary cancer in clinical practice, 2007
 Main article
Open
MUTYH NM_001048174.2:c.583A>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 19725997
Base excision repair and the role of MUTYH.
Hereditary cancer in clinical practice, 2007
 Main article
Open
MUTYH NM_001048174.2:c.991C>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 19725997
Base excision repair and the role of MUTYH.
Hereditary cancer in clinical practice, 2007
 Main article
Open
MUTYH NM_001048174.2:c.991C>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 19725997
Base excision repair and the role of MUTYH.
Hereditary cancer in clinical practice, 2007
 Main article
Open
ERCC2 NM_000400.4:c.556C>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 19725989
Some molecular and clinical aspects of genetic predisposition to malignant melanoma and tumours of various site of origin.
Hereditary cancer in clinical practice, 2007
 Main article
Open
P2RY12 NM_022788.5:c.767G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 18404440
Structural and functional evolution of the P2Y(12)-like receptor group.
Purinergic signalling, 2007
 Main article
Open