ClinVar for MedGen (Select 104768) - ClinVar - NCBI

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Items: 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 15763971.	NM_000311.5(PRNP):c.636G>A (p.Gln212=) GRCh37: Chr20:4680502 GRCh38: Chr20:4699856	PRNP		Inherited Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome, Kuru, susceptibility to, Spongiform encephalopathy with neuropsychiatric features, Fatal familial insomnia, Huntington disease-like 1, Huntington disease-like 1	Likely benign (Sep 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14680832.	NM_000311.5(PRNP):c.498G>A (p.Met166Ile) GRCh37: Chr20:4680364 GRCh38: Chr20:4699718	PRNP	M166I	Huntington disease-like 1, Inherited Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome, Fatal familial insomnia, Huntington disease-like 1, Kuru, susceptibility to, Spongiform encephalopathy with neuropsychiatric features	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13262743.	NM_000311.5(PRNP):c.635A>C (p.Gln212Pro) GRCh37: Chr20:4680501 GRCh38: Chr20:4699855	PRNP	Q212P	Huntington disease-like 1, Fatal familial insomnia	Conflicting interpretations of pathogenicity (Nov 28, 2021)	criteria provided, conflicting interpretations
Select item 7668824.	NM_000311.5(PRNP):c.306G>A (p.Pro102=) GRCh37: Chr20:4680172 GRCh38: Chr20:4699526	PRNP	E73K	Kuru, susceptibility to, Inherited Creutzfeldt-Jakob disease, Spongiform encephalopathy with neuropsychiatric features, Gerstmann-Straussler-Scheinker syndrome, Fatal familial insomnia, Huntington disease-like 1, not provided, Huntington disease-like 1	Benign/Likely benign (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3386565.	NM_000311.5(PRNP):c.*115G>A GRCh37: Chr20:4680743 GRCh38: Chr20:4700097	PRNP		Inherited prion disease, Kuru, susceptibility to, Huntington disease-like 1, Gerstmann-Straussler-Scheinker syndrome, Inherited Creutzfeldt-Jakob disease, Spongiform encephalopathy with neuropsychiatric features, Fatal familial insomnia	Uncertain significance (Oct 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3386456.	NM_000311.5(PRNP):c.159C>T (p.Gly53=) GRCh37: Chr20:4680025 GRCh38: Chr20:4699379	PRNP	R24W	Inherited prion disease, Kuru, susceptibility to, Huntington disease-like 1, Gerstmann-Straussler-Scheinker syndrome, Inherited Creutzfeldt-Jakob disease, Spongiform encephalopathy with neuropsychiatric features, Fatal familial insomnia, Huntington disease-like 1	Benign/Likely benign (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 654947.	NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del) GRCh37: Chr20:4680026-4680049 GRCh38: Chr20:4699380-4699403	PRNP		Fatal familial insomnia, Huntington disease-like 1, Spongiform encephalopathy with neuropsychiatric features, Kuru, susceptibility to, Inherited Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome, not provided, Huntington disease-like 1	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 393598.	NM_000311.5(PRNP):c.532G>A (p.Asp178Asn) GRCh37: Chr20:4680398 GRCh38: Chr20:4699752	PRNP	D178N	not provided, Huntington disease-like 1	Pathogenic (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 134069.	NM_000311.5(PRNP):c.695T>G (p.Met232Arg) GRCh37: Chr20:4680561 GRCh38: Chr20:4699915	PRNP	M232R	Spongiform encephalopathy with neuropsychiatric features, Huntington disease-like 1, Fatal familial insomnia, Gerstmann-Straussler-Scheinker syndrome, Kuru, susceptibility to, Inherited Creutzfeldt-Jakob disease, Huntington disease-like 1	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1340510.	NM_000311.5(PRNP):c.538G>A (p.Val180Ile) GRCh37: Chr20:4680404 GRCh38: Chr20:4699758	PRNP	V180I	Fatal familial insomnia, Gerstmann-Straussler-Scheinker syndrome, Kuru, susceptibility to, Spongiform encephalopathy with neuropsychiatric features, Huntington disease-like 1, Inherited Creutzfeldt-Jakob disease, Inherited prion disease, Inherited Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1	Pathogenic/Likely pathogenic/Pathogenic, low penetrance (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1340311.	NM_000311.5(PRNP):c.628G>A (p.Val210Ile) GRCh37: Chr20:4680494 GRCh38: Chr20:4699848	PRNP	V210I	Spongiform encephalopathy with neuropsychiatric features, Huntington disease-like 1, Fatal familial insomnia, Gerstmann-Straussler-Scheinker syndrome, Kuru, susceptibility to, Inherited Creutzfeldt-Jakob disease, Huntington disease-like 1	Likely pathogenic/Pathogenic, low penetrance (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1339912.	NM_000311.3(PRNP):c.[385A>G;532G>A] GRCh37: Chr20:4680251 Chr20:4680398 GRCh38: Chr20:4699605 Chr20:4699752	PRNP, PRNP	M129V, D178N	Inherited Creutzfeldt-Jakob disease, Fatal familial insomnia	Pathogenic (Nov 26, 2008)	no assertion criteria provided
Select item 1339813.	NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) GRCh37: Chr20:4680464 GRCh38: Chr20:4699818	PRNP	E200K	not provided, Huntington disease-like 1	Pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1339714.	NM_000311.5(PRNP):c.385A>G (p.Met129Val) GRCh37: Chr20:4680251 GRCh38: Chr20:4699605	PRNP	M129V	Fatal familial insomnia, Inherited Creutzfeldt-Jakob disease, Kuru, susceptibility to, Spongiform encephalopathy with neuropsychiatric features, Huntington disease-like 1, Gerstmann-Straussler-Scheinker syndrome, not provided, Huntington disease-like 1, Inherited prion disease, Inherited Creutzfeldt-Jakob disease	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts