GLEAM-DB

Search GLEAM-DB / CoGenEx-PM3

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Input query
Recognized gene
A4GALT, AARS1, AARS2, AASS, ABAT and 6 more
Normalized c.HGVS
c.1106G>A, c.1121G>C, c.1123G>T (p.Asp375Tyr), c.1153A>G, c.1182G>A (p.Met394Ile) and 44 more
Normalized p.HGVS
p.(Ala1297Thr), p.(Ala1324Thr), p.(Ala1326Gly), p.(Ala1405Val), p.(Ala2147Thr) and 33 more
Matching records
8274
PM3-positive records
274

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.

Download current query results as TSV
Gene Variant Evidence PM3 context Publication Reviewed source Actions
BRCA2 NM_000059.4:c.8471G>C Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.6468_6469delTC
context: Confirmed in trans
 32099950
Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.
Journal of the Endocrine Society, 2019
 Main article
Open
USH2A NM_206933.4:c.3045C>G Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.6992G > A; p.(Gly2331Glu)
context: Confirmed in trans
 31877679
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
International journal of molecular sciences, 2019
 Main article
Open
RYR1 NM_000540.3:c.7585G>A Phase-confirmed PM3 evidence
Needs review
Confirmed in trans with p.L2155P; p.R682P
context: Confirmed in trans
 31856875
Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report.
Italian journal of pediatrics, 2019
 Main article
Open
LOXHD1 NM_001384474.1:c.1828G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.2825-2827delAGA
context: Confirmed in trans
 31709873
A novel LOXHD1 variant in a Chinese couple with hearing loss.
The Journal of international medical research, 2019
 Main article
Open
PKHD1 NM_138694.4:c.2876C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.5772C>A; F1924L; p.Phe1924Leu
context: Confirmed in trans
 31638247
Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family.
Molecular medicine reports, 2019
 Main article
Open
HIBCH NM_014362.4:c.808A>G Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.173A>G; p.Asn58Ser
context: Confirmed in trans
 31523596
Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia.
Intractable & rare diseases research, 2019
 Main article
Open
MAG NM_002361.4:c.1117A>C Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.452C > T; p.A151V
context: Confirmed in trans
 31402626
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
Annals of clinical and translational neurology, 2019
 Main article
Open
GNS NM_002076.4:c.1262G>A Phase-confirmed PM3 evidence
High confidence
PM3 evidence identified; partner variant not structured
context: Confirmed in trans
 31312705
A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex.
JAAD case reports, 2019
 Main article
Open
CDAN1 NM_138477.4:c.1003C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.2174G>A; p.Arg725Gln
context: Confirmed in trans
 31183007
Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report.
World journal of hepatology, 2019
 Main article
Open
CDHR1 NM_033100.4:c.2027T>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1106dup; p.H370Afs*17
context: Confirmed in trans
 30992995
A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants.
Human genome variation, 2019
 Main article
Open
LZTR1 NM_006767.4:c.1385T>C Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1382C>A; p.A461D
context: Confirmed in trans
 30859559
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Clinical genetics, 2019
 Main article
Open
LZTR1 NM_006767.4:c.1591G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.628C>T; p.R210*
context: Confirmed in trans
 30859559
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Clinical genetics, 2019
 Main article
Open
LZTR1 NM_006767.4:c.2246A>G Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1407G>A; p.W469*
context: Confirmed in trans
 30859559
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Clinical genetics, 2019
 Main article
Open
POLR3A NM_007055.4:c.1682G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1909+22G>A
context: Confirmed in trans
 30847471
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.
Brain : a journal of neurology, 2019
 Main article
Open
ALG11 NM_001004127.3:c.44G>C Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.161C>T; p.S54L; p.Ser54Leu
context: Confirmed in trans
 30770273
Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.
Pediatric neurology, 2019
 Main article
Open
PMS2 NM_000535.7:c.2404C>G Phase-confirmed PM3 evidence
Needs review
Confirmed in trans with c.123_131delGTTAGTAGA; p.Leu42_Glu44del
context: Confirmed in trans
 30653781
Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene.
Human mutation, 2019
 Main article
Open
HSPG2 NM_005529.7:c.337G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.3059C>T; p.Pro1020Leu
context: Confirmed in trans
 30362252
Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
Human mutation, 2019
 Main article
Open
IDUA NM_000203.5:c.1577T>C Phase-confirmed PM3 evidence
Needs review
Confirmed in trans with c.241C>T; p.P81S
context: Confirmed in trans
 30093709
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Genetics in medicine : official journal of the American College of Medical Genetics, 2019
 Main article
Open
IDUA NM_000203.5:c.241C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1557T>C; p.L526P
context: Confirmed in trans
 30093709
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Genetics in medicine : official journal of the American College of Medical Genetics, 2019
 Main article
Open
BCKDK NM_005881.4:c.847G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with deletion in trans; deletion on 16p which includes this gene
context: Confirmed in trans
 29907797
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Genetics in medicine : official journal of the American College of Medical Genetics, 2019
 Supplementary material
Open