Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1223430276
rs1223430276
LZTR1
1.000 22 20991684 missense variant G/A snv 7.0E-06
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.800 1.000 3 2006 2019
dbSNP: rs587777177
rs587777177
LZTR1
1.000 22 20987548 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.800 1.000 0 2014 2019
dbSNP: rs587777178
rs587777178
LZTR1
0.925 0.080 22 20995865 missense variant C/T snv 4.4E-05 6.3E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.800 1.000 0 2014 2019
dbSNP: rs587777180
rs587777180
LZTR1
1.000 22 20993967 missense variant G/A snv 3.2E-05 5.6E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.800 1.000 0 2014 2019
dbSNP: rs762834512
rs762834512
LZTR1
1.000 0.160 22 20996740 missense variant G/A snv 4.0E-06
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		0.800 1.000 0 2010 2019
dbSNP: rs797045165
rs797045165
LZTR1
0.925 22 20991686 missense variant C/T snv 7.0E-06
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.800 1.000 0 2014 2019
dbSNP: rs797045165
rs797045165
LZTR1
0.925 22 20991686 missense variant C/T snv 7.0E-06
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.800 1.000 0 2015 2019
dbSNP: rs797045166
rs797045166
LZTR1
1.000 22 20990474 missense variant G/A snv
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.800 1.000 0 2015 2019
dbSNP: rs869320686
rs869320686
LZTR1
0.882 22 20990476 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 2006 2017
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0428851
Disease: Dilatation of pulmonary artery, unspecified
Dilatation of pulmonary artery, unspecified 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0032290
Disease: Aspiration Pneumonia
Aspiration Pneumonia 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1845019
Disease: Left ventricular septal hypertrophy
Left ventricular septal hypertrophy 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
Premature birth following premature rupture of fetal membranes 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.700 1.000 1 2018 2018