Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1034395178
rs1034395178
LZTR1
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1034395178
rs1034395178
LZTR1
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1034395178
rs1034395178
LZTR1
CUI: C1837142
Disease: Poor suck
Poor suck 		A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1034395178
rs1034395178
LZTR1
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum 		A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1034395178
rs1034395178
LZTR1
CUI: C1858085
Disease: Malar flattening
Malar flattening 		A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1034395178
rs1034395178
LZTR1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1034395178
rs1034395178
LZTR1
CUI: C0032290
Disease: Aspiration Pneumonia
Aspiration Pneumonia 		A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1034395178
rs1034395178
LZTR1
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018