LZTR1 Chromosome 22
Leucine zipper like post translational regulator 1
Upload your DNA to see your personal genotypes for variants in LZTR1.
What This Gene Does
This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
BTB domain containing
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000099949
Associated Conditions (42)
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
Noonan syndrome 2
Noonan syndrome 10
Papillary renal cell carcinoma type 1
Noonan syndrome and Noonan-related syndrome
LZTR1-related disorder
Noonan syndrome 1
Congenital diaphragmatic hernia
Noonan syndrome
Acute myeloid leukemia
Malignant tumor of esophagus
See cases
Schwannomatosis
Diffuse midline glioma
H3 K27-altered
Cardiomyopathy
Primary familial hypertrophic cardiomyopathy
RASopathy
+22 more conditions
Key Variants
RS1025841516
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
Health Risk
RS1036934148
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
Health Risk
RS1051725799
Conflicting classifications of pathogenicity
LZTR1-related schwannomatosis, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
Health Risk
RS1057524046
Conflicting classifications of pathogenicity
Health Risk
RS1157548960
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, LZTR1-related schwannomatosis
Health Risk
RS1158550690
Conflicting classifications of pathogenicity
Noonan syndrome 2, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
Health Risk
RS1165871561
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Noonan syndrome 2
Health Risk
RS1167452184
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
Health Risk
RS1168913250
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, LZTR1-related schwannomatosis
Health Risk
RS1169396415
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
Health Risk
RS117346988
Conflicting classifications of pathogenicity
Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
Health Risk
RS1199776016
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, LZTR1-related schwannomatosis
Health Risk
All Variants (679)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1464339533 | Health Risk | Pathogenic | — |
| RS1469836617 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1472642577 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1482222775 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, LZTR1-related schwannomatosis |
| RS150419186 | Health Risk | Pathogenic | Noonan syndrome 2, Noonan syndrome 10, LZTR1-related schwannomatosis |
| RS151000791 | Health Risk | Pathogenic | Noonan syndrome 10, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1555928249 | Health Risk | Pathogenic | Noonan syndrome 2, RASopathy, Hereditary cancer-predisposing syndrome |
| RS1569153870 | Health Risk | Pathogenic | LZTR1-related schwannomatosis, LZTR1-related schwannomatosis |
| RS1569154722 | Health Risk | Pathogenic | LZTR1-related schwannomatosis, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS1569155256 | Health Risk | Pathogenic | — |
| RS1569157966 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS1601722136 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1924223700 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS1924255143 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1924256257 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS1924256984 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, LZTR1-related schwannomatosis |
| RS1924461126 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS1924497235 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1924523150 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS1924525661 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1924526245 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1924566447 | Health Risk | Pathogenic | Schwannomatosis, Schwannomatosis |
| RS1924568324 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS1924610101 | Health Risk | Pathogenic | Schwannomatosis, Schwannomatosis |
| RS1924613952 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1924636315 | Health Risk | Pathogenic | — |
| RS1924657058 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS1924687245 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1924703709 | Health Risk | Pathogenic | LZTR1-related schwannomatosis, Noonan syndrome 10, Noonan syndrome 2 |
| RS1924706492 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS1924717764 | Health Risk | Pathogenic | Schwannomatosis, Schwannomatosis |
| RS1924718115 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1924761308 | Health Risk | Pathogenic | — |
| RS1924773761 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1924774579 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS1924776523 | Health Risk | Pathogenic | — |
| RS1924832357 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1924863769 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS1924866379 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS1924868328 | Health Risk | Pathogenic | Noonan syndrome 2, Schwannomatosis, Cardiovascular phenotype |
| RS1924869044 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS199765826 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Noonan syndrome 2 |
| RS2147957369 | Health Risk | Pathogenic | — |
| RS2147959756 | Health Risk | Pathogenic | — |
| RS2147961500 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2147962049 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2147962064 | Health Risk | Pathogenic | Emery-Dreifuss muscular dystrophy, Schwannomatosis, Emery-Dreifuss muscular dystrophy |
| RS2147963355 | Health Risk | Pathogenic | — |
| RS2147964105 | Health Risk | Pathogenic | Noonan syndrome, Noonan syndrome 10, Noonan syndrome |
| RS2147964938 | Health Risk | Pathogenic | — |