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Recognized gene
LZTR1
Normalized c.HGVS
c.1019G>A, c.104C>T, c.1064G>A, c.1145C>T, c.1174G>A and 45 more
Normalized p.HGVS
p.(Ala108Thr), p.(Ala392Thr), p.(Arg294Cys), p.(Arg340Gln), p.(Arg355Gln) and 44 more
Matching records
433
PM3-positive records
45
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 |
|---|---|---|---|---|---|---|
| LZTR1 |
NM_006767.4:c.1735G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1549del; p.E517Rfs*39
context: Confirmed in trans
|
38982897
Biventricular outflow tract obstruction due to hypertrophy related to compound heterozygous variants in LZTR1.
ESC heart failure, 2024
|
Main article | |
| LZTR1 |
NM_006767.4:c.1261-3C>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1943-256C>T
context: Confirmed in trans
|
38586174
Whole genome sequencing in paediatric channelopathy and cardiomyopathy.
Frontiers in cardiovascular medicine, 2024
|
Main article | |
| LZTR1 |
NM_006767.4:c.1261-3C>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with c.1943-256C>T
context: Confirmed in trans
|
38586174
Whole genome sequencing in paediatric channelopathy and cardiomyopathy.
Frontiers in cardiovascular medicine, 2024
|
Main article | |
| LZTR1 |
NM_006767.4:c.988A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.594‐3C>T
context: Confirmed in trans
|
34401172
Spontaneous resolution of nonimmune hydrops fetalis in a fetus with TP63 gene mutation and LZTR1 gene variants.
Clinical case reports, 2021
|
Main article | |
| 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 | |
| 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 | |
| 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 | |
| LZTR1 |
NM_006767.4:c.2089C>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with c.2407-2A>G
context: Confirmed in trans
|
29469822
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Genetics in medicine : official journal of the American College of Medical Genetics, 2018
|
Supplementary material | |
| LZTR1 |
NM_006767.4:c.1735G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2330 T > C; p.Leu777Pro
context: Compound heterozygous candidate
|
39472908
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Genome medicine, 2024
|
Main article | |
| LZTR1 |
NM_006767.4:c.1735G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.1735G > A; p.Val579Met
context: Compound heterozygous candidate
|
39472908
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Genome medicine, 2024
|
Main article | |
| LZTR1 |
NM_006767.4:c.1735G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.2330 T > C; p.Leu777Pro
context: Compound heterozygous candidate
|
39472908
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Genome medicine, 2024
|
Main article | |
| LZTR1 |
NM_006767.4:c.1687G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Glu563Gln
context: Compound heterozygous candidate
|
38982897
Biventricular outflow tract obstruction due to hypertrophy related to compound heterozygous variants in LZTR1.
ESC heart failure, 2024
|
Main article | |
| LZTR1 |
NM_006767.4:c.2264G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
38982897
Biventricular outflow tract obstruction due to hypertrophy related to compound heterozygous variants in LZTR1.
ESC heart failure, 2024
|
Main article | |
| LZTR1 |
NM_006767.4:c.508C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.614T>C; p.Ile205Thr
context: Compound heterozygous candidate
|
38982897
Biventricular outflow tract obstruction due to hypertrophy related to compound heterozygous variants in LZTR1.
ESC heart failure, 2024
|
Main article | |
| LZTR1 |
NM_006767.4:c.1149G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with c.27dupG; p.Q10Afs∗
context: Confirmed in trans
|
38333672
Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants.
Molecular therapy. Nucleic acids, 2024
|
Main article | |
| LZTR1 |
NM_006767.4:c.1385T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1382C>A; p.A461D
context: Compound heterozygous candidate
|
38333672
Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants.
Molecular therapy. Nucleic acids, 2024
|
Main article | |
| LZTR1 |
NM_006767.4:c.1591G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.628C>T; p.R210∗
context: Compound heterozygous candidate
|
38333672
Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants.
Molecular therapy. Nucleic acids, 2024
|
Main article | |
| LZTR1 |
NM_006767.4:c.1687G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.E563Q
context: Compound heterozygous candidate
|
38333672
Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants.
Molecular therapy. Nucleic acids, 2024
|
Main article | |
| LZTR1 |
NM_006767.4:c.1735G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2070-2A>G; p.R210∗
context: Compound heterozygous candidate
|
38333672
Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants.
Molecular therapy. Nucleic acids, 2024
|
Main article | |
| LZTR1 |
NM_006767.4:c.1964T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38333672
Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants.
Molecular therapy. Nucleic acids, 2024
|
Main article | |