ClinVar for MedGen (Select 104768) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1576397	NM_000311.5(PRNP):c.636G>A (p.Gln212=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1 +5 more	GLikely benign
Select item 1468083	NM_000311.5(PRNP):c.498G>A (p.Met166Ile)	PRNP (M166I)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1 +5 more	GUncertain significance
Select item 1326274	NM_000311.5(PRNP):c.635A>C (p.Gln212Pro)	PRNP (Q212P)	Single nucleotide variant (missense variant +1 more)	Gerstmann-Straussler-Scheinker syndrome +2 more	GConflicting classifications of pathogenicity
Select item 766882	NM_000311.5(PRNP):c.306G>A (p.Pro102=)	PRNP (E73K)	Single nucleotide variant (synonymous variant +1 more)	Gerstmann-Straussler-Scheinker syndrome +6 more	GBenign/Likely benign
Select item 338656	NM_000311.5(PRNP):c.*115G>A	PRNP	Single nucleotide variant (3 prime UTR variant)	Kuru, susceptibility to +6 more	GUncertain significance
Select item 338645	NM_000311.5(PRNP):c.159C>T (p.Gly53=)	PRNP (R24W)	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1 +6 more	GBenign/Likely benign
Select item 65494	NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del)	PRNP	Microsatellite (inframe_deletion)	not provided +6 more	GLikely benign
Select item 39359	NM_000311.5(PRNP):c.532G>A (p.Asp178Asn)	PRNP (D178N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 13406	NM_000311.5(PRNP):c.695T>G (p.Met232Arg)	PRNP (M232R)	Single nucleotide variant (missense variant +1 more)	Spongiform encephalopathy with neuropsychiatric features +5 more	GUncertain significance
Select item 13405	NM_000311.5(PRNP):c.538G>A (p.Val180Ile)	PRNP (V180I)	Single nucleotide variant (missense variant +1 more)	Spongiform encephalopathy with neuropsychiatric features +6 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 13403	NM_000311.5(PRNP):c.628G>A (p.Val210Ile)	PRNP (V210I)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1 +6 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 13399	NM_000311.3(PRNP):c.[385A>G;532G>A]	PRNP (M129V +1 more)	Single nucleotide variant (missense variant +1 more)	Fatal familial insomnia +1 more	GPathogenic
Select item 13398	NM_000311.5(PRNP):c.598G>A (p.Glu200Lys)	PRNP (E200K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 13397	NM_000311.5(PRNP):c.385A>G (p.Met129Val)	PRNP (M129V)	Single nucleotide variant (missense variant +1 more)	Inherited prion disease +7 more	GBenign/Likely benign