GLEAM-DB

Search GLEAM-DB / CoGenEx-PM3

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Input query
Recognized gene
AARS1, ABCA3, ABCA4, ABCB4, ABCD4 and 6 more
Normalized c.HGVS
c.1066A>G, c.1268C>T, c.130T>A (p.Trp44Arg), c.1317G>C, c.1346C>T and 44 more
Normalized p.HGVS
p.(=), p.(Ala1281Thr), p.(Ala201Thr), p.(Ala229Val), p.(Ala546Val) and 35 more
Matching records
3986
PM3-positive records
391

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
FOLR1 NM_016729.3:c.45G>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.493+2T>C
context: Confirmed in trans
 38239817
FOLR1 Gene Variation With Adult-Onset Cerebral Folate Deficiency and Stable Clinical and MRI Features up to 2 Years.
Neurology. Genetics, 2023
 Main article
Open
SCN4A NM_000334.4:c.4420G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1841A > T; p.(Asn614Ile)
context: Confirmed in trans
 38187266
SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review.
Heliyon, 2023
 Main article
Open
RTTN NM_173630.4:c.19A>G Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.5500A>G; p.(Asn1834Asp)
context: Confirmed in trans
 38178912
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.
Frontiers in pediatrics, 2023
 Main article
Open
RTTN NM_173630.4:c.5500A>G Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.19A>G; I7V; p.(Ile7Val)
context: Confirmed in trans
 38178912
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.
Frontiers in pediatrics, 2023
 Main article
Open
SDCCAG8 NM_006642.5:c.1552A>G Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1255del; p.Glu419ArgfsTer43; frameshift
context: Confirmed in trans
 38132069
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service.
Healthcare (Basel, Switzerland), 2023
 Main article
Open
GALE NM_001008216.2:c.538G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.796A>C; Ile266Leu; p.Ile266Leu
context: Confirmed in trans
 38090149
Molecular characterization of novel and rare DNA variants in patients with galactosemia.
Frontiers in genetics, 2023
 Main article
Open
DYNC2H1 NM_001377.3:c.337C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1390C > T; c.3353del; Arg464Ter; +2 more
context: Confirmed in trans
 38062428
Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.
BMC medical genomics, 2023
 Main article
Open
COL7A1 NM_000094.4:c.3301C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.5797C>T; p.R1933*
context: Confirmed in trans
 38061702
Missense Variant c.3301C>T (p.R1101W) in von Willebrand Factor A Sequence in a Patient with Recessive Dystrophic Epidermolysis Bullosa Pruriginosa with Compound Heterozygous COL7A1 Variants.
Annals of dermatology, 2023
 Main article
Open
RPGRIP1L NM_015272.5:c.3545C>T Phase-confirmed PM3 evidence
Needs review
Confirmed in trans with c.697A > T; p. Lys233Ter
context: Confirmed in trans
 38013309
Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report.
Medicine, 2023
 Main article
Open
TMEM67 NM_153704.6:c.1241C>G Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.2924G>A; p.Arg975His
context: Confirmed in trans
 37910852
A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.
The Journal of international medical research, 2023
 Main article
Open
TMEM67 NM_153704.6:c.2924G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1241C>G; p.Pro414Arg
context: Confirmed in trans
 37910852
A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.
The Journal of international medical research, 2023
 Main article
Open
CDH23 NM_022124.6:c.3178C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.4780C>G; p.(Arg1594Gly)
context: Confirmed in trans
 37811145
Next-generation sequencing improves precision medicine in hearing loss.
Frontiers in genetics, 2023
 Main article
Open
STXBP2 NM_006949.4:c.1286C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1247-1 G>C; p.?
context: Confirmed in trans
 37628638
Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder.
Genes, 2023
 Main article
Open
SLC25A13 NM_014251.3:c.1618C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1754G > A; p.Arg585His
context: Confirmed in trans
 37592284
Genetic screening in a Brazilian cohort with inborn errors of immunity.
BMC genomic data, 2023
 Main article
Open
SLC25A13 NM_014251.3:c.1754G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1618C > T; p.Pro540Ser
context: Confirmed in trans
 37592284
Genetic screening in a Brazilian cohort with inborn errors of immunity.
BMC genomic data, 2023
 Main article
Open
PKD1 NM_001009944.3:c.5830G>A Phase-confirmed PM3 evidence
Needs review
Confirmed in trans with W1839C
context: Confirmed in trans
 37372410
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes, 2023
 Main article
Open
PKD1 NM_001009944.3:c.5848G>A Phase-confirmed PM3 evidence
Needs review
Confirmed in trans with S788fs *
context: Confirmed in trans
 37372410
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes, 2023
 Main article
Open
PKD1 NM_001009944.3:c.6484C>T Phase-confirmed PM3 evidence
Needs review
Confirmed in trans with R2266fs *
context: Confirmed in trans
 37372410
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes, 2023
 Main article
Open
PKD1 NM_001009944.3:c.6763C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with Y2753 *
context: Confirmed in trans
 37372410
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes, 2023
 Main article
Open
PKD1 NM_001009944.3:c.8300G>A Phase-confirmed PM3 evidence
Needs review
Confirmed in trans with V1611I
context: Confirmed in trans
 37372410
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes, 2023
 Main article
Open