Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
A4GALT, AARS1, AARS2, ABAT, ABCA3 and 15 more
Normalized c.HGVS
c.1000C>T, c.1012C>T, c.1013G>A, c.104T>C, c.110A>T and 45 more
Normalized p.HGVS
p.(Ala1113Asp), p.(Ala1128Val), p.(Ala120Pro), p.(Ala1324Thr), p.(Ala226Val) and 42 more
Matching records
1389
PM3-positive records
5
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 |
|---|---|---|---|---|---|---|
| GLDC |
NM_000170.3:c.1000T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with del GLDC
context: Compound heterozygous candidate
|
32421718
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
PLoS computational biology, 2020
|
Main article | |
| GLDC |
NM_000170.3:c.2396C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.1126A>G; c.2596G>C; D866H; +3 more
context: Compound heterozygous candidate
|
32421718
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
PLoS computational biology, 2020
|
Supplementary material | |
| GLDC |
NM_000170.3:c.578A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with L207V
context: Compound heterozygous candidate
|
32421718
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
PLoS computational biology, 2020
|
Supplementary material | |
| GLDC |
NM_000170.3:c.698T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with E503A; V735L
context: Compound heterozygous candidate
|
32421718
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
PLoS computational biology, 2020
|
Supplementary material | |
| GLDC |
NM_000170.3:c.832G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with A64T
context: Compound heterozygous candidate
|
32421718
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
PLoS computational biology, 2020
|
Supplementary material | |
| KCNQ1 |
NM_000218.3:c.397G>A
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
32797034
A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.
PLoS computational biology, 2020
|
Main article | |
| WRAP53 |
NM_001143992.2:c.309C>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
40315252
Structural and mechanistic diversity in p53-mediated regulation of organismal longevity across taxonomical orders.
PLoS computational biology, 2025
|
Main article and supplement | |
| CASR |
NM_000388.4:c.1192G>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39531485
Evolutionary history of calcium-sensing receptors unveils hyper/hypocalcemia-causing mutations.
PLoS computational biology, 2024
|
Main article and supplement | |
| CASR |
NM_000388.4:c.179G>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39531485
Evolutionary history of calcium-sensing receptors unveils hyper/hypocalcemia-causing mutations.
PLoS computational biology, 2024
|
Main article and supplement | |
| CASR |
NM_000388.4:c.416T>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39531485
Evolutionary history of calcium-sensing receptors unveils hyper/hypocalcemia-causing mutations.
PLoS computational biology, 2024
|
Main article and supplement | |
| KCNQ1 |
NM_000218.3:c.584G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
35442947
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
PLoS computational biology, 2022
|
Main article and supplement | |
| KCNQ1 |
NM_000218.3:c.860C>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
35442947
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
PLoS computational biology, 2022
|
Main article and supplement | |
| KCNQ1 |
NM_000218.3:c.860C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
35442947
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
PLoS computational biology, 2022
|
Main article and supplement | |
| NTHL1 |
NM_002528.7:c.7G>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
35377867
SUITOR: Selecting the number of mutational signatures through cross-validation.
PLoS computational biology, 2022
|
Main article and supplement | |
| ALPL |
NM_000478.6:c.1349G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
35320273
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
PLoS computational biology, 2022
|
Main article and supplement | |
| ALPL |
NM_000478.6:c.1492G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
35320273
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
PLoS computational biology, 2022
|
Main article and supplement | |
| ALPL |
NM_000478.6:c.431G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
35320273
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
PLoS computational biology, 2022
|
Main article and supplement | |
| ALPL |
NM_000478.6:c.431G>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
35320273
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
PLoS computational biology, 2022
|
Main article and supplement | |
| NPC1 |
NM_000271.5:c.1274C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
32986692
Modeling the efficiency of filovirus entry into cells in vitro: Effects of SNP mutations in the receptor molecule.
PLoS computational biology, 2020
|
Main article and supplement | |
| KCNQ1 |
NM_000218.3:c.328G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
32797034
A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.
PLoS computational biology, 2020
|
Main article | |