GLEAM-DB

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Input query
Recognized gene
ABCA4, ABCB4, ABCG8, ACADS, ACADVL and 8 more
Normalized c.HGVS
c.-207=, c.1009C>A, c.1264-11T>G, c.146C>T, c.1571G>A and 44 more
Normalized p.HGVS
p.(Ala1041Ser), p.(Ala1041Thr), p.(Ala1309Pro), p.(Ala2274Ser), p.(Ala304Val) and 41 more
Matching records
288
PM3-positive records
13

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
CYP1B1 NM_000104.4:c.1103G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with E229K
context: Compound heterozygous candidate
 19096718
Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol.
Molecular vision, 2008
 Main article
Open
PMS2 NM_000535.7:c.2404C>G Phase-unconfirmed biallelic evidence
Needs review
Homozygous for query variant
context: Homozygous evidence
 18824584
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.
The Journal of experimental medicine, 2008
 Main article
Open
FKRP NM_024301.5:c.962_970dup Phase-unconfirmed biallelic evidence
Not assessed
Homozygous for query variant
context: Homozygous evidence
 18752264
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Human mutation, 2008
 Main article
Open
MSH6 NM_000179.3:c.2795G>T Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with E201Q; E487D
context: Compound heterozygous candidate
 18676759
Mismatch repair deficiency does not mediate clinical resistance to temozolomide in malignant glioma.
Clinical cancer research : an official journal of the American Association for Cancer Research, 2008
 Main article
Open
MSH6 NM_000179.3:c.325C>G Phase-unconfirmed biallelic evidence
Needs review
Homozygous for query variant
context: Homozygous evidence
 18676759
Mismatch repair deficiency does not mediate clinical resistance to temozolomide in malignant glioma.
Clinical cancer research : an official journal of the American Association for Cancer Research, 2008
 Main article
Open
ACADS NM_000017.4:c.991G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with 319C>T
context: Compound heterozygous candidate
 18676165
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.
Molecular genetics and metabolism, 2008
 Main article
Open
DOK7 NM_173660.5:c.1513T>C Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with 1139_1141delinsA; 1139_41delinsA; Ala380AspfsX76
context: Compound heterozygous candidate
 18626973
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.
Annals of neurology, 2008
 Main article
Open
TMC1 NM_138691.3:c.830A>G Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 18616530
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
Clinical genetics, 2008
 Main article
Open
CYP1B1 NM_000104.4:c.1103G>A Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with p.R355Hfs*69; p.W57*
context: Compound heterozygous candidate
 18537981
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.
Clinical genetics, 2008
 Main article
Open
MUTYH NM_001048174.2:c.1103G>T Phase-unconfirmed biallelic evidence
Needs review
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
 18534194
Characterization of mutant MUTYH proteins associated with familial colorectal cancer.
Gastroenterology, 2008
 Main article
Open
ERCC2 NM_000400.4:c.1133G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.2164C>T; p.R722W
context: Compound heterozygous candidate
 18470933
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
Human mutation, 2008
 Main article
Open
CYP1B1 NM_000104.4:c.1103G>A Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 18385784
Contributions of MYOC and CYP1B1 mutations to JOAG.
Molecular vision, 2008
 Main article
Open
NEK8 NM_178170.3:c.988C>T Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 18199800
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.
Journal of the American Society of Nephrology : JASN, 2008
 Main article
Open
TCAP NM_003673.4:c.394G>C Other Patient-Level Evidence
High confidence
Patient-level evidence found, not PM3
context: Other patient-level evidence
 18199329
Protein interactions in human genetic diseases.
Genome biology, 2008
 Supplementary material
Open
ATM NM_000051.4:c.2143C>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 21655367
In search of breast cancer culprits: suspecting the suspected and the unsuspected.
Breast cancer : basic and clinical research, 2008
 Main article
Open
FRRS1L NC_000009.12:g.109167279T>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 21202921
2-Amino-N-(2-benz-yloxy-3-methoxy-benzyl-idene)aniline.
Acta crystallographica. Section E, Structure reports online, 2008
 Main article
Open
ATM NM_000051.4:c.3161C>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 20445776
Assessing Candidate Gene nsSNPs for Phenotypic Differences in Double-Strand Break Repair Using Radiation-Induced gammaH2A.X Foci.
Journal of cancer epidemiology, 2008
 Main article
Open
ATM NM_000051.4:c.3161C>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 19802369
Inherited predisposition to chronic lymphocytic leukemia.
Expert review of hematology, 2008
 Main article
Open
F7 NM_019616.4:c.484G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 19714257
Update on the physiology and pathology of factor IX activation by factor XIa.
Expert review of hematology, 2008
 Main article
Open
ATM NM_000051.4:c.7271T>C No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 19706204
Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome.
Hereditary cancer in clinical practice, 2008
 Main article
Open