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Recognized gene
ABCA4, ADAR, ATM, BRCA1, BRCA2 and 28 more
Normalized c.HGVS
c.1273T>C, c.1310C>A, c.1645C>T, c.1709T>C, c.1927G>A and 42 more
Normalized p.HGVS
p.(Ala329Thr), p.(Ala643Thr), p.(Arg1467Trp), p.(Arg156Gly), p.(Arg173Ser) and 39 more
Matching records
337
PM3-positive records
22
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 |
|---|---|---|---|---|---|---|
| SLC26A4 |
NM_000441.2:c.-103T>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with p.L236P
context: Confirmed in trans
|
19204907
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
Human mutation, 2009
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
20057908
Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.
Molecular vision, 2009
|
Main article | |
| PINK1 |
NM_032409.3:c.949G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with R492X
context: Compound heterozygous candidate
|
20049715
PINK1 function in health and disease.
EMBO molecular medicine, 2009
|
Main article | |
| EIF2B5 |
NM_003907.3:c.1153A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Tyr343Cys
context: Compound heterozygous candidate
|
20016818
Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.
PloS one, 2009
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
19898634
Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C exist.
Molecular vision, 2009
|
Main article | |
| HGD |
NM_000187.4:c.8A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.773A>C; c.914C>T; p.Q258P; +1 more
context: Compound heterozygous candidate
|
19862842
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Human mutation, 2009
|
Main article | |
| RYR1 |
NM_000540.3:c.5441T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.7528T>C
context: Compound heterozygous candidate
|
19825159
The role of CACNA1S in predisposition to malignant hyperthermia.
BMC medical genetics, 2009
|
Main article | |
| RYR1 |
NM_000540.3:c.7036G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.14817C>A
context: Compound heterozygous candidate
|
19825159
The role of CACNA1S in predisposition to malignant hyperthermia.
BMC medical genetics, 2009
|
Main article | |
| RYR1 |
NM_000540.3:c.7528T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5441T>A
context: Compound heterozygous candidate
|
19825159
The role of CACNA1S in predisposition to malignant hyperthermia.
BMC medical genetics, 2009
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.G61E
context: Compound heterozygous candidate
|
19597567
Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.
Molecular vision, 2009
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with F190L; Ter@223; p.F190L; +1 more
context: Compound heterozygous candidate
|
19536304
Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients.
Molecular vision, 2009
|
Main article | |
| RPGRIP1L |
NM_015272.5:c.1636C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with A229T
context: Compound heterozygous candidate
|
19430481
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Nature genetics, 2009
|
Main article | |
| RPGRIP1L |
NM_015272.5:c.1939G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with A229T
context: Compound heterozygous candidate
|
19430481
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Nature genetics, 2009
|
Main article | |
| SGCD |
NM_000337.6:c.451T>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with p.A131P
context: Confirmed in trans
|
19259135
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
European journal of human genetics : EJHG, 2009
|
Main article | |
| CYP1B1 |
NM_000104.4:c.155C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
19234632
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.
Molecular vision, 2009
|
Main article | |
| GUSB |
NM_000181.4:c.1222C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1244C>T; p.P415L
context: Compound heterozygous candidate
|
19224584
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Human mutation, 2009
|
Main article | |
| GUSB |
NM_000181.4:c.1244C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1222C>T; p.P408S; p.P415L
context: Compound heterozygous candidate
|
19224584
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Human mutation, 2009
|
Main article | |
| PKD1 |
NM_001009944.3:c.9313C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with 8293C→T; R2765C
context: Confirmed in trans
|
19165178
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
Kidney international, 2009
|
Main article | |
| PKD1 |
NM_001009944.3:c.9625C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with Q2158X
context: Confirmed in trans
|
19165178
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
Kidney international, 2009
|
Main article | |
| VPS33B |
NM_018668.5:c.728C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.403+2 T>A
context: Compound heterozygous candidate
|
18853461
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Human mutation, 2009
|
Main article | |