Total 8 pathogenic variants reported for Laurence-Moon syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001166114.2(PNPLA6):c.2149G>C (p.Gly717Arg) SNV
Germline
Chr19:7551072 Pathogenic Laurence-Moon syndrome No Assertion Criteria Provided
CA403124631 rs_2146090036

1 SubmittersRCV000162355

NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln) SNV
Germline
Chr19:7558970 Conflicting classifications of pathogenicity Condition: not provided
Hereditary spastic paraplegia 39
Rod-cone dystrophy
Ataxia-hypogonadism-choroidal dystrophy syndrome
Laurence-Moon syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Cerebellar ataxia-hypogonadism syndrome
Criteria Provided
Conflicting Classifications
CA16043120 rs_1057517802

5 SubmittersRCV000413765RCV000696127RCV001376230RCV005429017

NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg) SNV
Germline
Chr19:7557242 Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Ataxia-hypogonadism-choroidal dystrophy syndrome
Condition: not provided
Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39
Laurence-Moon syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Criteria Provided
Conflicting Classifications
CA9140435 rs_773955314

5 SubmittersRCV000466086RCV002290969RCV001643173RCV001821279RCV005398626

NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser) SNV
Germline
Chr19:7561297 Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39
Condition: not provided
Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39
Laurence-Moon syndrome
Criteria Provided
Conflicting Classifications
CA9140664 rs_151264767

6 SubmittersRCV000470003RCV002293441RCV001535779

NM_001166114.2(PNPLA6):c.1228G>A (p.Val410Ile) SNV
Germline
Chr19:7542043 Conflicting classifications of pathogenicity Condition: not provided
Hereditary spastic paraplegia 39
Inborn genetic diseases
Hereditary spastic paraplegia 39
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Laurence-Moon syndrome
Criteria Provided
Conflicting Classifications
CA9139720 rs_369465821

5 SubmittersRCV000712779RCV001056230RCV004026821RCV005357963

NM_001166114.2(PNPLA6):c.3614T>C (p.Val1205Ala) SNV
Germline
Chr19:7559066 Likely pathogenic Hereditary spastic paraplegia 39
Laurence-Moon syndrome
Hereditary spastic paraplegia 39
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA403135483 rs_1211079280

2 SubmittersRCV001049696RCV005359812

NM_001166114.2(PNPLA6):c.4051C>T (p.Arg1351Ter) SNV
Germline
Chr19:7561515 Pathogenic/Likely pathogenic Hereditary spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 39
Ataxia-hypogonadism-choroidal dystrophy syndrome
Laurence-Moon syndrome
Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA9140695 rs_370033046

5 SubmittersRCV001847242RCV002508308RCV001384731RCV001647196RCV005411718