NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)Pathogenic
not specified|Noonan syndrome 10;LZTR1-related schwannomatosis|not provided|Noonan syndrome and Noonan-related syndrome|Non-immune hydrops fetalis|RASopathy|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related disorder|Noonan syndrome 10|Noonan syndrome 10;Noonan syndrome 2
β
β
β
β2025β Residue 412
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)Likely pathogenic
Noonan syndrome 10|not provided|LZTR1-related schwannomatosis;Noonan syndrome 10|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related disorder|LZTR1-related schwannomatosis;Noonan syndrome 2;Noonan syndrome 10|RASopathy
β
β
β
β2024β Residue 284
NM_006767.4(LZTR1):c.1149+1G>ALikely pathogenic
not provided|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related schwannomatosis|LZTR1-related schwannomatosis;Noonan syndrome 2;Noonan syndrome 10|RASopathy
β
β
β
β2024
NM_006767.4(LZTR1):c.1149+1G>TLikely pathogenic
not provided|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|LZTR1-related schwannomatosis|RASopathy
β
β
β
β2024
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)Likely pathogenic
not provided|Noonan syndrome 10|Noonan syndrome and Noonan-related syndrome|RASopathy|Noonan syndrome 1|Male infertility with azoospermia or oligozoospermia due to single gene mutation|LZTR1-related disorder|LZTR1-related schwannomatosis|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|Neoplasm
β
β
β
β2024β Residue 283
NM_006767.4(LZTR1):c.263+1G>ALikely pathogenic
not provided|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|LZTR1-related schwannomatosis|LZTR1-related disorder|Noonan syndrome 2;LZTR1-related schwannomatosis;Noonan syndrome 10|RASopathy
β
β
β
β2024
NM_006767.4(LZTR1):c.1030del (p.Ser344fs)Pathogenic
not provided|Noonan syndrome 2|RASopathy|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype
β
β
β
β2024β Residue 344
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter)Pathogenic
Noonan syndrome 2|not provided|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|RASopathy
β
β
β
β2024β Residue 726
NM_006767.4(LZTR1):c.993+1G>APathogenic
Noonan syndrome 2|not provided|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related schwannomatosis|not specified|RASopathy
β
β
β
β2024
NM_006767.4(LZTR1):c.1943-256C>TPathogenic
not provided|Noonan syndrome 2|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|Noonan syndrome|LZTR1-related schwannomatosis|RASopathy
β
β
β
β2024
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)Pathogenic
not provided|Noonan syndrome 10|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|LZTR1-related disorder|RASopathy|Noonan syndrome 10;LZTR1-related schwannomatosis
β
β
β
β2024β Residue 281
NM_006767.4(LZTR1):c.27dup (p.Gln10fs)Pathogenic
not provided|Noonan syndrome 2|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related schwannomatosis|Neoplasm|RASopathy
β
β
β
β2024β Residue 10
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)Likely pathogenic
not provided|Short stature|Noonan syndrome 10;LZTR1-related schwannomatosis|Schwannomatosis|Noonan syndrome 2|LZTR1-related schwannomatosis|Noonan syndrome and Noonan-related syndrome|See cases|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|Noonan syndrome 10|Noonan syndrome 2;Noonan syndrome 10;LZTR1-related schwannomatosis|RASopathy|Hereditary cancer-predisposing syndrome
β
β
β
β2024β Residue 362
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)Likely pathogenic
Noonan syndrome 10|not provided|Noonan syndrome 10;LZTR1-related schwannomatosis|Fetal cystic hygroma|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|LZTR1-related schwannomatosis|LZTR1-related disorder|RASopathy|Noonan syndrome 1|Noonan syndrome
β
β
β
β2024β Residue 248
NM_006767.4(LZTR1):c.264-13G>APathogenic
LZTR1-related schwannomatosis|not provided|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|Noonan syndrome 2;LZTR1-related schwannomatosis;Noonan syndrome 10|Developmental disorder|Noonan syndrome 2|Schwannomatosis
β
β
ββ2026
NM_006767.4(LZTR1):c.993+1G>TPathogenic
not provided|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related schwannomatosis|Lung cancer
β
β
ββ2026
NM_006767.4(LZTR1):c.791+1G>APathogenic
not provided|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related schwannomatosis|Schwannomatosis|Noonan syndrome 10
β
β
ββ2026
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr)Likely pathogenic
not provided|Noonan syndrome 2|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related schwannomatosis|Noonan syndrome 2;Noonan syndrome 10;LZTR1-related schwannomatosis|Noonan syndrome 10
β
β
ββ2026β Residue 796
NM_006767.4(LZTR1):c.1406G>A (p.Trp469Ter)Pathogenic
Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|not provided
β
β
ββ2026β Residue 469
NM_006767.4(LZTR1):c.604_605del (p.Met202fs)Pathogenic
Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|not provided|LZTR1-related schwannomatosis
β
β
ββ2026β Residue 202