Total 8 pathogenic variants reported for Creutzfeldt-Jakob disease

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu)	SNV Germline	Chr20:4699525	Pathogenic	Gerstmann-Straussler-Scheinker syndrome Huntington disease-like 1 Condition: not provided Spongiform encephalopathy with neuropsychiatric features Inherited Creutzfeldt-Jakob disease	Criteria Provided Multiple Submitters No Conflicts	CA256774	rs_74315401	8 SubmittersRCV000014329 RCV001203438 RCV001269667 RCV001642224 RCV001813741
NM_000311.5(PRNP):c.598G>A (p.Glu200Lys)	SNV Germline	Chr20:4699818	Pathogenic	Inherited Creutzfeldt-Jakob disease Fatal familial insomnia Huntington disease-like 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256778	rs_28933385	8 SubmittersRCV000014334 RCV000014335 RCV000644587 RCV001310451
NM_000311.5(PRNP):c.628G>A (p.Val210Ile)	SNV Germline	Chr20:4699848	Pathogenic/Likely pathogenic/Pathogenic, low penetrance	Inherited Creutzfeldt-Jakob disease Huntington disease-like 1 6 conditions Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA256781	rs_74315407	5 SubmittersRCV000014342 RCV000532969 RCV002476962 RCV004018625
NM_000311.5(PRNP):c.538G>A (p.Val180Ile)	SNV Germline	Chr20:4699758	Pathogenic/Likely pathogenic/Pathogenic, low penetrance	Inherited Creutzfeldt-Jakob disease Inherited prion disease Huntington disease-like 1 Gerstmann-Straussler-Scheinker syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA256782	rs_74315408	7 SubmittersRCV000014344 RCV000020249 RCV001212635 RCV001807726 RCV002476963
NM_000311.5(PRNP):c.623G>A (p.Arg208His)	SNV Germline	Chr20:4699843	Pathogenic/Likely pathogenic	Inherited Creutzfeldt-Jakob disease Huntington disease-like 1 Condition: not provided PRNP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256785	rs_74315412	4 SubmittersRCV000014352 RCV001851853 RCV001823096 RCV002468968
NM_000311.5(PRNP):c.631G>C (p.Glu211Gln)	SNV Germline	Chr20:4699851	Pathogenic	Inherited Creutzfeldt-Jakob disease	No Assertion Criteria Provided	CA266210	rs_398122370	1 SubmittersRCV000074468
NM_000311.5(PRNP):c.443G>A (p.Arg148His)	SNV Germline	Chr20:4699663	Likely pathogenic	Huntington disease-like 1 Inherited Creutzfeldt-Jakob disease	Criteria Provided Multiple Submitters No Conflicts		rs_181348299	2 SubmittersRCV002009625 RCV003324843