Total 10 pathogenic variants reported for Lathosterolosis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006918.5(SC5D):c.86G>A (p.Arg29Gln) SNV
Germline		 Chr11:121303461 Pathogenic Lathosterolosis No Assertion Criteria Provided
 CA118734 rs_104894295

1 SubmittersRCV000007779
NM_006918.5(SC5D):c.632G>A (p.Gly211Asp) SNV
Germline		 Chr11:121307244 Pathogenic Lathosterolosis No Assertion Criteria Provided
 CA118736 rs_104894296

1 SubmittersRCV000007780
NM_006918.5(SC5D):c.137A>C (p.Tyr46Ser) SNV
Germline		 Chr11:121303512 Pathogenic Lathosterolosis No Assertion Criteria Provided
 CA118738 rs_104894297

1 SubmittersRCV000007781
NM_006918.5(SC5D):c.444+11T>C SNV
Germline		 Chr11:121306497 Conflicting classifications of pathogenicity Lathosterolosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6328138 rs_760625340

2 SubmittersRCV000311343RCV002520684
NM_006918.5(SC5D):c.753C>T (p.Gly251=) SNV
Germline		 Chr11:121307365 Conflicting classifications of pathogenicity Lathosterolosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6328225 rs_201959036

2 SubmittersRCV000275741RCV001859800
NM_006918.5(SC5D):c.223C>T (p.Arg75Ter) SNV
Germline		 Chr11:121304373 Conflicting classifications of pathogenicity Lathosterolosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1313359281

2 SubmittersRCV000791037RCV002535825
NM_006918.5(SC5D):c.344-15C>T SNV
Germline		 Chr11:121306371 Conflicting classifications of pathogenicity Lathosterolosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_570720353

2 SubmittersRCV001104113RCV002069726
NM_006918.5(SC5D):c.630C>A (p.Asp210Glu) SNV
Germline		 Chr11:121307242 Pathogenic Lathosterolosis No Assertion Criteria Provided
 rs_760167278

1 SubmittersRCV001171520
NM_006918.5(SC5D):c.479C>G (p.Pro160Arg) SNV
Germline		 Chr11:121307091 Pathogenic Lathosterolosis No Assertion Criteria Provided
 rs_1947971579

1 SubmittersRCV001171521