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Recognized gene
A4GALT, ABCA4, ABCG5, ACADM, ACADVL and 14 more
Normalized c.HGVS
c.-207=, c.1048G>A, c.1159G>T, c.1184A>C, c.1216T>A and 43 more
Normalized p.HGVS
p.(=), p.(Ala1172Pro), p.(Ala1172Ser), p.(Ala2Asp), p.(Ala350Thr) and 38 more
Matching records
398
PM3-positive records
34
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
High confidence
|
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 | |
| MUTYH |
NM_001048174.2:c.1103G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with P391L; Y165C
context: Compound heterozygous candidate
|
19836313
Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.
DNA repair, 2009
|
Main article | |
| RYR1 |
NM_000540.3:c.4088C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.4024A>G
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.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 | |
| HGSNAT |
NM_152419.3:c.1209G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
19823584
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
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
|
19744731
Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma.
Ophthalmology, 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 | |
| BRIP1 |
NM_032043.3:c.897G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with P47A
context: Compound heterozygous candidate
|
19519404
FANCJ helicase operates in the Fanconi Anemia DNA repair pathway and the response to replicational stress.
Current molecular medicine, 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 | |
| RPGRIP1L |
NM_015272.5:c.3706C>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 | |
| MPL |
NM_005373.3:c.1473G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with C1621>T; stop codon
context: Confirmed in trans
|
19302922
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature.
Experimental hematology, 2009
|
Main article | |