Total 3 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			1 SubmittersRCV000162355
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser)	SNV Germline	Chr19:7561297	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 39 Ataxia-hypogonadism-choroidal dystrophy syndrome Hereditary spastic paraplegia 39 Laurence-Moon syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9140664	rs_151264767	5 SubmittersRCV000470003 RCV001535779 RCV002293441