GLEAM-DB

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Input query
Recognized gene
ABCB4, AHI1, ALDOB, ANO5, ARSB and 36 more
Normalized c.HGVS
c.*1122C>G, c.*959A>C, c.1039C>G, c.1039C>T, c.1055A>C and 42 more
Normalized p.HGVS
p.(=), p.(Ala1773Ser), p.(Arg2318Gly), p.(Arg319Trp), p.(Arg347Cys) and 39 more
Matching records
2963
PM3-positive records
319

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
RDH12 NM_152443.3:c.194G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.506G>A; p.(Arg169Gln)
context: Confirmed in trans
 39693083
Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.
Investigative ophthalmology & visual science, 2024
 Main article
Open
RDH12 NM_152443.3:c.302A>G Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.210dup; c.883C>T; p.(Arg295*); +1 more
context: Confirmed in trans
 39693083
Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.
Investigative ophthalmology & visual science, 2024
 Main article
Open
CDH23 NM_022124.6:c.5168G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.264G>A; p.Trp88Ter
context: Confirmed in trans
 39596651
Segregation of Trans Mutations in the CDH23 Gene in an Emirati Family with Sensorineural Hearing Loss.
Genes, 2024
 Main article
Open
PRF1 NM_001083116.3:c.559C>T Phase-confirmed PM3 evidence
Needs review
Confirmed in trans with Thr450Met
context: Confirmed in trans
 39434014
Pediatric CNS-isolated hemophagocytic lymphohistiocytosis with brain hemorrhages: a case report.
BMC neurology, 2024
 Main article
Open
TRIOBP NM_001039141.3:c.3661C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1192_1195delCAACinsT; Gln398*
context: Confirmed in trans
 39296067
A sensorineural hearing loss harboring novel compound heterozygous variant in the TRIOBP gene: A case report.
Heliyon, 2024
 Main article
Open
TTN NM_001267550.2:c.95234T>G Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.29024C > A; p.Ser9675*
context: Confirmed in trans
 39277846
Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.
Human molecular genetics, 2024
 Main article
Open
PKD1 NM_001009944.3:c.5957C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.3876C>A; p. Phe1292Leu
context: Confirmed in trans
 39105070
Primary Cilia Elongation in Early-Onset Polycystic Kidney Disease with 2 Hypomorphic PKD1 Alleles: A Case Report.
Kidney medicine, 2024
 Main article
Open
HJV NM_213653.4:c.863G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.18G>C; c.962_963delGCinsAA; C321*; +3 more
context: Confirmed in trans
 38994316
Novel compound heterozygous mutations in the hemojuvelin gene in a juvenile hemochromatosis patient: A case report.
World journal of clinical cases, 2024
 Main article
Open
LZTR1 NM_006767.4:c.1735G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1549del; p.E517Rfs*39
context: Confirmed in trans
 38982897
Biventricular outflow tract obstruction due to hypertrophy related to compound heterozygous variants in LZTR1.
ESC heart failure, 2024
 Main article
Open
FANCM NM_020937.4:c.950A>G Phase-confirmed PM3 evidence
Needs review
Confirmed in trans with Leu57Phe; p.Leu57Phe
context: Confirmed in trans
 38927643
FANCM Gene Variants in a Male Diagnosed with Sertoli Cell-Only Syndrome and Diffuse Astrocytoma.
Genes, 2024
 Main article
Open
PKHD1 NM_138694.4:c.55C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1981 A > C; p.T661P
context: Confirmed in trans
 38918687
A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy?
BMC nephrology, 2024
 Main article
Open
RAB28 NM_001017979.3:c.68C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.76-158T>G
context: Confirmed in trans
 38819824
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
JAMA network open, 2024
 Main article
Open
SH3TC2 NM_024577.4:c.3269C>G Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.3413G>A; S1138N
context: Confirmed in trans
 38707135
A Patient With Charcot-Marie-Tooth Disease Type 4C (CMT4C) Presenting With Muscle Fasciculations and Motor Neuropathy.
Cureus, 2024
 Main article
Open
LZTR1 NM_006767.4:c.1261-3C>G Phase-confirmed PM3 evidence
Needs review
Confirmed in trans with c.1943-256C>T
context: Confirmed in trans
 38586174
Whole genome sequencing in paediatric channelopathy and cardiomyopathy.
Frontiers in cardiovascular medicine, 2024
 Main article
Open
SCN4A NM_000334.4:c.4216G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.3533G > T; p.G1178V; p.Gly1178Val
context: Confirmed in trans
 38571618
Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review.
Heliyon, 2024
 Main article
Open
PIGN NM_176787.5:c.776T>C Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.932T > G; p.Leu311Trp
context: Confirmed in trans
 38509968
PIGN c.776T>C (p.Phe259Ser) variant present in trans with a pathogenic variant for PIGN-congenital disorder of glycosylation: Bella-Noah syndrome.
Heliyon, 2024
 Main article
Open
TULP1 NM_003322.6:c.797G>T Phase-confirmed PM3 evidence
Needs review
Confirmed in trans with LOF TULP1 variant
context: Confirmed in trans
 38450199
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
Frontiers in genetics, 2024
 Main article
Open
POLR3A NM_007055.4:c.3677T>C Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1909+22G>A; c.3337-11T>C
context: Confirmed in trans
 38397171
The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.
Genes, 2024
 Main article
Open
INVS NM_014425.5:c.2686G>A Phase-unconfirmed biallelic evidence
High confidence
Confirmed in trans with c.1943A>G; p.648N>S
context: Confirmed in trans
 40475304
INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report.
Kidney medicine, 2024
 Main article
Open
GAA NM_000152.5:c.1136C>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.1139C>T; c.1174A>C; c.1559A>T; +7 more
context: Compound heterozygous candidate
 40225932
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Human mutation, 2024
 Main article
Open