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 SubmittersRCV000413765 RCV000696127 RCV001376230 RCV005429017
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 SubmittersRCV000466086 RCV002290969 RCV001643173 RCV001821279 RCV005398626
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 SubmittersRCV000470003 RCV002293441 RCV001535779
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 SubmittersRCV000712779 RCV001056230 RCV004026821 RCV005357963
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 SubmittersRCV001049696 RCV005359812
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 SubmittersRCV001847242 RCV002508308 RCV001384731 RCV001647196 RCV005411718