Total 8 pathogenic variants reported for Griscelli syndrome type 1

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001382347.1(MYO5A):c.2332C>T (p.Arg778Ter)	SNV Germline	Chr15:52376435	Pathogenic	Griscelli syndrome type 1	No Assertion Criteria Provided	CA7568730	rs_764371254	1 SubmittersRCV000015113
NM_001382347.1(MYO5A):c.3136G>A (p.Val1046Met)	SNV Germline	Chr15:52367055	Conflicting classifications of pathogenicity	not specified Condition: not provided Intellectual disability Griscelli syndrome type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7568513	rs_56132571	8 SubmittersRCV000502933 RCV000658717 RCV001252332 RCV001731727 RCV002527267
NM_001382347.1(MYO5A):c.2012+1G>T	SNV Germline	Chr15:52383090	Pathogenic	Griscelli syndrome type 1	Criteria Provided Single Submitter	CA7568832	rs_769021352	1 SubmittersRCV000680043
NM_001382347.1(MYO5A):c.2477G>A (p.Arg826His)	SNV Germline	Chr15:52375404	Conflicting classifications of pathogenicity	Condition: not provided Griscelli syndrome type 1 MYO5A-related disorder	Criteria Provided Conflicting Classifications	CA7568684	rs_752461164	3 SubmittersRCV000919256 RCV001333314 RCV003950864
NM_001382347.1(MYO5A):c.3043C>T (p.Arg1015Ter)	SNV Germline	Chr15:52370192	Likely pathogenic	Griscelli syndrome type 1	Criteria Provided Single Submitter	CA392519758	rs_2141084327	1 SubmittersRCV001809215
NM_001382347.1(MYO5A):c.2110C>T (p.Gln704Ter)	SNV Germline	Chr15:52379723	Pathogenic	Griscelli syndrome type 1	No Assertion Criteria Provided	CA392522261	rs_2141121140	1 SubmittersRCV002248385
NM_001382347.1(MYO5A):c.463C>T (p.Arg155Ter)	SNV Germline	Chr15:52416294	Pathogenic	Griscelli syndrome type 1	No Assertion Criteria Provided	CA392513084	rs_2043479059	1 SubmittersRCV002248386
NM_001382347.1(MYO5A):c.655C>T (p.Arg219Cys)	SNV Germline	Chr15:52410434	Likely pathogenic	Griscelli syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005860801