Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
BRCA1, BRCA2, F7, GJB2, MLH1 and 6 more
Normalized c.HGVS
c.1013A>T, c.1022T>G, c.1024G>A, c.1168C>G, c.1186C>T and 44 more
Normalized p.HGVS
p.(=), p.(Ala589Val), p.(Arg100Gln), p.(Arg100Leu), p.(Arg1076Ser) and 43 more
Matching records
1763
PM3-positive records
70
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 |
|---|---|---|---|---|---|---|
| RYR1 |
NM_000540.3:c.11314C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.2966A>G; c.848A>G; E989G; +1 more
context: Confirmed in trans
|
24091937
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
JAMA ophthalmology, 2013
|
Main article | |
| RYR1 |
NM_000540.3:c.2966A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.11314C>T; R3772W
context: Confirmed in trans
|
24091937
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
JAMA ophthalmology, 2013
|
Main article | |
| IDUA |
NM_000203.5:c.355G>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with c.99 T > G; H33Q
context: Confirmed in trans
|
24053568
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.
Orphanet journal of rare diseases, 2013
|
Main article | |
| PLEKHG5 |
NM_020631.6:c.1988C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.2458G > C; p.Gly820Arg
context: Confirmed in trans
|
23844677
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
Orphanet journal of rare diseases, 2013
|
Main article | |
| PLEKHG5 |
NM_020631.6:c.2458G>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1988C > T; p.Thr663Met
context: Confirmed in trans
|
23844677
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
Orphanet journal of rare diseases, 2013
|
Main article | |
| NTRK1 |
NM_002529.4:c.2057G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1561T>C; p.F521L
context: Confirmed in trans
|
23799134
Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis.
PloS one, 2013
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
26997785
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Journal of current glaucoma practice, 2013
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1290C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
26997785
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Journal of current glaucoma practice, 2013
|
Main article | |
| CYP1B1 |
NM_000104.4:c.155C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
26997785
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Journal of current glaucoma practice, 2013
|
Main article | |
| CYP1B1 |
NM_000104.4:c.171G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
26997785
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Journal of current glaucoma practice, 2013
|
Main article | |
| CYP1B1 |
NM_000104.4:c.487C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
26997785
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Journal of current glaucoma practice, 2013
|
Main article | |
| PRKN |
NM_004562.3:c.838G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with R334C
context: Compound heterozygous candidate
|
24532983
Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.
Current genomics, 2013
|
Main article | |
| NAGLU |
NM_000263.4:c.1501G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.221insC; V75RfsX116
context: Compound heterozygous candidate
|
24314109
Natural history of Sanfilippo syndrome in Spain.
Orphanet journal of rare diseases, 2013
|
Main article | |
| NAGLU |
NM_000263.4:c.1621C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1012A>G; c.1211G>A; M338V; +3 more
context: Compound heterozygous candidate
|
24314109
Natural history of Sanfilippo syndrome in Spain.
Orphanet journal of rare diseases, 2013
|
Main article | |
| MSH2 |
NM_000251.3:c.1024G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
24278394
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
PloS one, 2013
|
Supplementary material | |
| CEP290 |
NM_025114.4:c.3758G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2578G>T; c.5254C>T; p.Arg1752Trp; +1 more
context: Compound heterozygous candidate
|
24265693
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
PloS one, 2013
|
Main article | |
| WDR62 |
NM_001083961.2:c.1576G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
24228726
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.
Orphanet journal of rare diseases, 2013
|
Main article | |
| WDR62 |
NM_001083961.2:c.3232G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
24228726
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.
Orphanet journal of rare diseases, 2013
|
Main article | |
| SLC3A1 |
NM_000341.4:c.241C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with 1400 T > C; Met467Thr
context: Confirmed in trans
|
24215330
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.
BMC medical genetics, 2013
|
Main article | |
| RYR1 |
NM_000540.3:c.1453A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Asp708Asn
context: Compound heterozygous candidate
|
24195946
Using exome data to identify malignant hyperthermia susceptibility mutations.
Anesthesiology, 2013
|
Main article | |