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Recognized gene
BRCA1, BRIP1, CNTNAP2, COG4, CYP1B1 and 26 more
Normalized c.HGVS
c.-27C>T, c.-32-13T>G, c.1013A>T, c.1103G>A, c.1103G>T and 44 more
Normalized p.HGVS
p.(=), p.(Ala2421Pro), p.(Ala246Asp), p.(Ala256Thr), p.(Ala267Thr) and 43 more
Matching records
6405
PM3-positive records
69
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.14693T>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.14256 A > C; p.4752 T > T
context: Confirmed in trans
|
25084811
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report.
BMC research notes, 2014
|
Main article | |
| LRP4 |
NM_002334.4:c.3830G>A
|
Phase-confirmed PM3 evidence
Not assessed
|
No PM3 candidate genotype identified
context: Confirmed in trans
|
24234652
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.
Human molecular genetics, 2014
|
Main article | |
| NEUROD1 |
NM_002500.5:c.724G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
25477324
A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.
Investigative ophthalmology & visual science, 2014
|
Main article | |
| RNASEH2C |
NM_032193.4:c.348+6C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
25462154
Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.
Genomics, proteomics & bioinformatics, 2014
|
Supplementary material | |
| NPC1 |
NM_000271.5:c.2692G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with Pro1245Cysfs*12
context: Compound heterozygous candidate
|
25425405
Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.
Orphanet journal of rare diseases, 2014
|
Main article | |
| CDH23 |
NM_022124.6:c.9569C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with Duplication exon 29
context: Compound heterozygous candidate
|
25404053
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Orphanet journal of rare diseases, 2014
|
Main article | |
| ATP7B |
NM_000053.4:c.3106G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Ala1003Thr
context: Compound heterozygous candidate
|
25390358
Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.
PloS one, 2014
|
Main article | |
| SLC26A4 |
NM_000441.2:c.1286C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with IVS7-2A>G
context: Compound heterozygous candidate
|
25372295
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
PloS one, 2014
|
Main article | |
| TUBGCP6 |
NM_020461.4:c.2546A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with Arg739Ter
context: Compound heterozygous candidate
|
25344692
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Nature genetics, 2014
|
Main article | |
| USH2A |
NM_206933.4:c.7238A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.[14131C>T]; p.(Gln4711*)
context: Compound heterozygous candidate
|
25333064
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.
Molecular genetics & genomic medicine, 2014
|
Main article | |
| AP5Z1 |
NM_014855.3:c.874C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2267C>T; p.T756I
context: Compound heterozygous candidate
|
25333062
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia.
Molecular genetics & genomic medicine, 2014
|
Main article | |
| ITGB3 |
NM_000212.3:c.2315T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
25275492
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
PloS one, 2014
|
Main article | |
| ITGB3 |
NM_000212.3:c.356G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
25275492
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
PloS one, 2014
|
Main article | |
| ITGB3 |
NM_000212.3:c.953T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
25275492
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
PloS one, 2014
|
Main article | |
| ITGA2B |
NM_000419.5:c.1162G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
25275492
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
PloS one, 2014
|
Main article | |
| ITGA2B |
NM_000419.5:c.2264G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
25275492
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
PloS one, 2014
|
Main article | |
| ITGA2B |
NM_000419.5:c.2315C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
25275492
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
PloS one, 2014
|
Main article | |
| ITGA2B |
NM_000419.5:c.2489T>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
25275492
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
PloS one, 2014
|
Main article | |
| USH2A |
NM_206933.4:c.10931C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
25268133
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
PloS one, 2014
|
Main article | |
| NPC1 |
NM_000271.5:c.1997G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2882A>G; p.N961S
context: Compound heterozygous candidate
|
25236789
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.
Orphanet journal of rare diseases, 2014
|
Main article | |