Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
AARS1, AARS2, ABCA4, ABCB4, ABCG5 and 6 more
Normalized c.HGVS
c.1007G>A, c.1073G>T, c.1180T>C (p.Cys394Arg), c.1182G>A (p.Met394Ile), c.1184A>C and 43 more
Normalized p.HGVS
p.(Ala331Thr), p.(Ala546Asp), p.(Ala68Val), p.(Arg111His), p.(Arg121Gln) and 36 more
Matching records
3006
PM3-positive records
381
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 |
|---|---|---|---|---|---|---|
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| TTN |
NM_001267550.2:c.51377A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.31426 + 1G > C; splice donor
context: Confirmed in trans
|
39277846
Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.
Human molecular genetics, 2024
|
Main article | |
| 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 | |
| BRCA1 |
NM_007294.4:c.5096G>C
|
Phase-confirmed PM3 evidence
Needs review
|
PM3 evidence identified; partner variant not structured
context: Confirmed in trans
|
39194334
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.
Cancer medicine, 2024
|
Main article | |
| 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 | |
| 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 | |
| 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 | |
| SLC26A2 |
NM_000112.4:c.1011TGT[5]
|
Phase-confirmed PM3 evidence
Not assessed
|
Confirmed in trans with c.1262 T > C; Ile421Thr; p.Ile421Thr
context: Confirmed in trans
|
38956600
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Orphanet journal of rare diseases, 2024
|
Main article | |
| TYR |
NM_000372.5:c.1307G>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1205G>A; p.(Arg402Gln)
context: Confirmed in trans
|
38928147
Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report.
International journal of molecular sciences, 2024
|
Main article | |
| FANCM |
NM_020937.4:c.950A>G
|
Phase-confirmed PM3 evidence
High confidence
|
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 | |
| 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 | |
| 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 | |
| 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 | |
| SLC19A3 |
NM_025243.4:c.488C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.597dup; p.(His200Serfs*25)
context: Confirmed in trans
|
38608714
Reply.
Arquivos de neuro-psiquiatria, 2024
|
Main article | |
| LZTR1 |
NM_006767.4:c.1261-3C>G
|
Phase-confirmed PM3 evidence
High confidence
|
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 | |
| LZTR1 |
NM_006767.4:c.1261-3C>T
|
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 | |