ClinVar for MedGen (Select 56445) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 899237	NM_000311.5(PRNP):c.*482A>G	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GBenign
Select item 899178	NM_000311.5(PRNP):c.116C>T (p.Pro39Leu)	PRNP (P39L)	Single nucleotide variant (missense variant +1 more)	Inherited prion disease +1 more	GConflicting classifications of pathogenicity
Select item 899177	NM_000311.5(PRNP):c.76C>G (p.Pro26Ala)	PRNP (P26A)	Single nucleotide variant (missense variant +1 more)	Inherited prion disease	GUncertain significance
Select item 899176	NM_000311.5(PRNP):c.5C>T (p.Ala2Val)	PRNP (A2V)	Single nucleotide variant (missense variant +1 more)	Inherited prion disease +1 more	GConflicting classifications of pathogenicity
Select item 898128	NM_000311.5(PRNP):c.*460G>T	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 896505	NM_000311.5(PRNP):c.654C>T (p.Tyr218=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Inherited prion disease +2 more	GLikely benign
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 896503	NM_000311.5(PRNP):c.497T>C (p.Met166Thr)	PRNP (M166T)	Single nucleotide variant (missense variant +1 more)	Inherited prion disease	GUncertain significance
Select item 895125	NM_000311.5(PRNP):c.*1328T>C	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 895124	NM_000311.5(PRNP):c.*1134T>A	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 895060	NM_000311.5(PRNP):c.143G>A (p.Arg48His)	PRNP (R48H)	Single nucleotide variant (missense variant +1 more)	Inherited prion disease +1 more	GUncertain significance
Select item 338675	NM_000311.5(PRNP):c.*1588C>T	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 338674	NM_000311.5(PRNP):c.*1466G>C	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 338673	NM_000311.5(PRNP):c.*1412T>A	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GBenign
Select item 338672	NM_000311.5(PRNP):c.*1281A>G	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 338671	NM_000311.5(PRNP):c.*1193G>A	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 338670	NM_000311.5(PRNP):c.*1063G>A	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GBenign
Select item 338669	NM_000311.5(PRNP):c.*1035T>G	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 338668	NM_000311.5(PRNP):c.*994C>T	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 338667	NM_000311.5(PRNP):c.*936C>T	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GBenign
Select item 338666	NM_000311.5(PRNP):c.*874C>T	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 338665	NM_000311.5(PRNP):c.*800C>T	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GBenign
Select item 338664	NM_000311.5(PRNP):c.*697A>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 338662	NM_000311.5(PRNP):c.*672C>G	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GBenign
Select item 338661	NM_000311.5(PRNP):c.*592T>C	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GBenign
Select item 338660	NM_000311.5(PRNP):c.*407T>G	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 338659	NM_000311.5(PRNP):c.*358C>A	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 338658	NM_000311.5(PRNP):c.*216G>A	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
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 338656	NM_000311.5(PRNP):c.*115G>A	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease +7 more	GUncertain significance
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 338653	NM_000311.5(PRNP):c.*4A>T	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease +1 more	GBenign
Select item 338652	NM_000311.5(PRNP):c.424G>A (p.Gly142Ser)	PRNP (G142S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 338651	NM_000311.5(PRNP):c.372C>G (p.Gly124=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1 +2 more	GBenign/Likely benign
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 338649	NM_000311.5(PRNP):c.252T>C (p.Pro84=)	PRNP (S55P)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 338648	NM_000311.5(PRNP):c.246A>G (p.Gly82=)	PRNP (T53A)	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1 +2 more	GBenign
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 338646	NM_000311.5(PRNP):c.160G>A (p.Gly54Ser)	PRNP (G54S +1 more)	Single nucleotide variant (missense variant)	Huntington disease-like 1 +2 more	GBenign/Likely benign
Select item 338645	NM_000311.5(PRNP):c.159C>T (p.Gly53=)	PRNP (R24W)	Single nucleotide variant (synonymous variant +1 more)	not provided +7 more	GBenign/Likely benign
Select item 338644	NM_000311.5(PRNP):c.-18C>T	PRNP	Single nucleotide variant (5 prime UTR variant)	Inherited prion disease	GBenign
Select item 338643	NM_000311.5(PRNP):c.-21G>T	PRNP	Single nucleotide variant (5 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 218578	NM_000311.5(PRNP):c.228C>T (p.Pro76=)	PRNP (P47S)	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 13409	NM_000311.5(PRNP):c.655G>A (p.Glu219Lys)	PRNP (E219K)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1 +2 more	GBenign
Select item 13408	NM_000311.5(PRNP):c.512A>G (p.Asn171Ser)	PRNP (N171S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 13405	NM_000311.5(PRNP):c.538G>A (p.Val180Ile)	PRNP (V180I)	Single nucleotide variant (missense variant +1 more)	Gerstmann-Straussler-Scheinker syndrome +6 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 13397	NM_000311.5(PRNP):c.385A>G (p.Met129Val)	PRNP (M129V)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1 +7 more	GBenign/Likely benign

ClinVar

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Links from MedGen

Items: 48