"GeneDx"[submitter] AND "PRNP"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1236587	NM_000311.5(PRNP):c.-10-21G>A	PRNP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3253499	NM_000311.5(PRNP):c.88G>A (p.Gly30Arg)	PRNP (G30R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 65494	NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del)	PRNP	Microsatellite (inframe_deletion)	Spongiform encephalopathy with neuropsychiatric features +6 more	GLikely benign
Select item 338647	NM_000311.5(PRNP):c.204T>C (p.Pro68=)	PRNP (S39P)	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1 +2 more	GBenign
Select item 536237	NM_000311.5(PRNP):c.246_269del (p.60_67PHGGGWGQ[3])	PRNP	Deletion (inframe_deletion)	Huntington disease-like 1 +1 more	GBenign/Likely benign
Select item 3371022	NM_000311.5(PRNP):c.284C>A (p.Thr95Asn)	PRNP (H65Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13415	NM_000311.5(PRNP):c.313C>T (p.Pro105Ser)	PRNP (P105S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 338650	NM_000311.5(PRNP):c.351A>G (p.Ala117=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Inherited prion disease +2 more	GBenign
Select item 13397	NM_000311.5(PRNP):c.385A>G (p.Met129Val)	PRNP (M129V)	Single nucleotide variant (missense variant +1 more)	Inherited Creutzfeldt-Jakob disease +7 more	GBenign/Likely benign
Select item 450790	NM_000311.5(PRNP):c.415A>G (p.Ile139Val)	PRNP (I139V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1318742	NM_000311.5(PRNP):c.467G>A (p.Arg156His)	PRNP (R156H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1704710	NM_000311.5(PRNP):c.473C>T (p.Pro158Leu)	PRNP (P158L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 13408	NM_000311.5(PRNP):c.512A>G (p.Asn171Ser)	PRNP (N171S)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1 +2 more	GBenign
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 896504	NM_000311.5(PRNP):c.565G>A (p.Val189Ile)	PRNP (V189I)	Single nucleotide variant (missense variant +1 more)	Inherited prion disease +2 more	GUncertain significance
Select item 13401	NM_000311.5(PRNP):c.593T>C (p.Phe198Ser)	PRNP (F198S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 13398	NM_000311.5(PRNP):c.598G>A (p.Glu200Lys)	PRNP (E200K)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1 +1 more	GPathogenic
Select item 13411	NM_000311.5(PRNP):c.623G>A (p.Arg208His)	PRNP (R208H)	Single nucleotide variant (missense variant +1 more)	PRNP-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2504199	NM_000311.5(PRNP):c.661G>A (p.Glu221Lys)	PRNP (E221K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707842	NM_000311.5(PRNP):c.696G>T (p.Met232Ile)	PRNP (M232I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 338653	NM_000311.5(PRNP):c.*4A>T	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease +1 more	GBenign
Select item 338654	NM_000311.5(PRNP):c.*70G>A	PRNP	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 338657	NM_000311.5(PRNP):c.*206A>G	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease +1 more	GBenign
Select item 338663	NM_000311.5(PRNP):c.*682A>G	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease +1 more	GBenign
Select item 1234141	NC_000020.11:g.4701861C>T	PRNP	Single nucleotide variant	not provided	GBenign
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

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Items: 27