Total 9 pathogenic variants reported for Obesity due to congenital leptin deficiency

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000230.3(LEP):c.313C>T (p.Arg105Trp)	SNV Germline	Chr7:128254572	Pathogenic	Obesity due to congenital leptin deficiency	No Assertion Criteria Provided	CA123668	rs_104894023	1 SubmittersRCV000015024
NM_000230.3(LEP):c.21C>T (p.Cys7=)	SNV Germline	Chr7:128252039	Conflicting classifications of pathogenicity	Obesity due to congenital leptin deficiency Monogenic Non-Syndromic Obesity Condition: not provided LEP-related disorder	Criteria Provided Conflicting Classifications	CA4469617	rs_201523305	5 SubmittersRCV000262044 RCV000317286 RCV000733683 RCV003983029
NM_000230.3(LEP):c.*34G>A	SNV Germline	Chr7:128254797	Conflicting classifications of pathogenicity	Monogenic Non-Syndromic Obesity Obesity due to congenital leptin deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4469738	rs_28954114	2 SubmittersRCV000345134 RCV000394362 RCV001554897
NM_000230.3(LEP):c.461T>C (p.Leu154Pro)	SNV Germline	Chr7:128254720	Likely pathogenic	Obesity due to congenital leptin deficiency	Criteria Provided Single Submitter	CA369444245	rs_1554394014	1 SubmittersRCV000518717
NM_000230.3(LEP):c.165G>A (p.Gln55=)	SNV Germline	Chr7:128254424	Conflicting classifications of pathogenicity	Condition: not provided Obesity due to congenital leptin deficiency	Criteria Provided Conflicting Classifications		rs_138908051	2 SubmittersRCV000898084 RCV001162249
NM_000230.3(LEP):c.53A>G (p.Tyr18Cys)	SNV Germline	Chr7:128252071	Conflicting classifications of pathogenicity	LEP-related disorder Obesity due to congenital leptin deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_148407750	4 SubmittersRCV003908414 RCV001162247 RCV001882513
NM_000230.3(LEP):c.175G>A (p.Gly59Ser)	SNV Germline	Chr7:128254434	Pathogenic	Leptin dysfunction Obesity due to congenital leptin deficiency	Criteria Provided Single Submitter		rs_200575914	2 SubmittersRCV003313818 RCV003318515
NM_000230.3(LEP):c.190C>T (p.Pro64Ser)	SNV Germline	Chr7:128254449	Pathogenic	Leptin dysfunction Obesity due to congenital leptin deficiency	Criteria Provided Single Submitter			2 SubmittersRCV003313819 RCV003318516