Total 3 pathogenic variants reported for Hermansky-Pudlak syndrome 10

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001261826.3(AP3D1):c.3233A>G (p.Lys1078Arg)	SNV Germline	Chr19:2110167	Conflicting classifications of pathogenicity	Condition: not provided Hermansky-Pudlak syndrome 10	Criteria Provided Conflicting Classifications	CA9058503	rs_201804540	2 SubmittersRCV001421577 RCV002070269
NM_001261826.3(AP3D1):c.2131G>A (p.Val711Ile)	SNV Germline	Chr19:2115556	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 10 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005026441 RCV006489152