Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
AARS1, AARS2, AASS, ABAT, ABCA3 and 1 more
Normalized c.HGVS
c.*1251G>A, c.*718C>A, c.-103C>G, c.-154G>A, c.-279G>A and 44 more
Normalized p.HGVS
p.(=), p.(Arg1425His), p.(Arg1457Gln), p.(Arg320Cys), p.(Arg320Gly) and 33 more
Matching records
9119
PM3-positive records
293
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 |
|---|---|---|---|---|---|---|
| SLC6A19 |
NM_001003841.3:c.1522G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.47C>T; P16L
context: Confirmed in trans
|
33817063
Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19.
Open life sciences, 2018
|
Main article | |
| POMGNT1 |
NM_017739.4:c.461C>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.550C>T; p.His184Tyr
context: Confirmed in trans
|
30937090
Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene.
Journal of pediatric neurosciences, 2018
|
Main article | |
| POMGNT1 |
NM_017739.4:c.550C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.461C>A; p.Pro154His
context: Confirmed in trans
|
30937090
Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene.
Journal of pediatric neurosciences, 2018
|
Main article | |
| PKD1 |
NM_001009944.3:c.9313C>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with Arg2765Cys
context: Confirmed in trans
|
30647506
Autosomal Dominant Polycystic Kidney Disease: Presence of Hypomorphic Alleles in PKD1 Gene.
Indian journal of nephrology, 2018
|
Main article | |
| CACNA2D2 |
NM_006030.4:c.782C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.3137T>C; p.Leu1046Pro
context: Confirmed in trans
|
30410802
Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants.
Case reports in genetics, 2018
|
Main article | |
| ELAC2 |
NM_018127.7:c.394G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1040C>T; p.Ser347Phe
context: Confirmed in trans
|
30217939
Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations.
Neurology, 2018
|
Main article | |
| SLC26A4 |
NM_000441.2:c.-103T>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.-66C>G
context: Confirmed in trans
|
30068397
Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort.
BMC research notes, 2018
|
Main article | |
| SEC23B |
NM_006363.6:c.1831C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1352G>T; p.C451F
context: Confirmed in trans
|
30032575
[Congenital dyserythropoietic anemia type Ⅱ with rare SEC23B mutations: a case report].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi, 2018
|
Main article | |
| TRAPPC11 |
NM_021942.6:c.965+5G>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.851A>C; p.Q284P
context: Confirmed in trans
|
29855340
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
Skeletal muscle, 2018
|
Main article | |
| DNAH9 |
NM_001372.4:c.6431G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.2968; R/C; R990C
context: Confirmed in trans
|
29738522
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
PLoS genetics, 2018
|
Supplementary material | |
| BBS12 |
NM_152618.3:c.1156C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.56T>G; p.Leu19Arg
context: Confirmed in trans
|
29633607
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing.
Cell journal, 2018
|
Main article | |
| RYR1 |
NM_000540.3:c.178G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.10817T>C; p.L3606P
context: Confirmed in trans
|
29629541
Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.
Journal of clinical neurology (Seoul, Korea), 2018
|
Main article | |
| CDAN1 |
NM_138477.4:c.1003C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.2174G>A; p.Arg725Gln
context: Confirmed in trans
|
29599085
Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.
Blood cells, molecules & diseases, 2018
|
Main article | |
| TNFRSF13B |
NM_012452.3:c.365G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.452C>T; p.P151L
context: Confirmed in trans
|
29531467
Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China.
World journal of gastroenterology, 2018
|
Main article | |
| TNFRSF13B |
NM_012452.3:c.452C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.365G>A; p.R122Q
context: Confirmed in trans
|
29531467
Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China.
World journal of gastroenterology, 2018
|
Main article | |
| LZTR1 |
NM_006767.4:c.2089C>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with c.2407-2A>G
context: Confirmed in trans
|
29469822
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Genetics in medicine : official journal of the American College of Medical Genetics, 2018
|
Supplementary material | |
| POLR3A |
NM_007055.4:c.200G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.2722G>T; p.D908Y
context: Confirmed in trans
|
29451896
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
PloS one, 2018
|
Main article | |
| MTHFR |
NM_005957.5:c.1162C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1970G > C; p.(*657Serext*50); stop-loss
context: Confirmed in trans
|
29391032
Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.
Orphanet journal of rare diseases, 2018
|
Main article | |
| GBE1 |
NM_000158.4:c.2056T>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1570C>T; Arg524*; p.(Arg524*); +1 more
context: Confirmed in trans
|
29379554
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.
Archives of medical science : AMS, 2018
|
Main article | |
| SLC26A4 |
NM_000441.2:c.1301C>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1730T>C; p.V577A
context: Confirmed in trans
|
29320412
Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.
International journal of molecular sciences, 2018
|
Main article | |