"OMIM"[submitter] AND "PRKN"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7042	NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter)	PRKN (W453* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 50354	NM_004562.3(PRKN):c.1292G>T (p.Cys431Phe)	PRKN (C431F +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 7041	NM_004562.2(PRKN):c.872-?_1083+?del	PRKN	Deletion	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 1456905	NM_004562.3(PRKN):c.971del (p.Val324fs)	PRKN (V175fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 7037	NM_004562.3(PRKN):c.931C>T (p.Gln311Ter)	PRKN (Q311* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 7045	NM_004562.2(PRKN):c.735-?_871+?del	PRKN	Deletion	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 7034	NM_004562.2(PRKN):c.172-?_871+?del	LOC126859869, LOC126859870 +2 more	Deletion	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 7050	NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)	PRKN (R275W +2 more)	Single nucleotide variant (missense variant)	Young-onset Parkinson disease +7 more	GPathogenic
Select item 7054	NM_004562.3(PRKN):c.719C>T (p.Thr240Met)	PRKN (T240M +2 more)	Single nucleotide variant (missense variant)	Young-onset Parkinson disease +3 more	GConflicting classifications of pathogenicity
Select item 7036	NM_004562.3(PRKN):c.719C>G (p.Thr240Arg)	PRKN (T240R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 7046	NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr)	PRKN (C212Y +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 7051	NM_004562.3(PRKN):c.633A>T (p.Lys211Asn)	PRKN (K211N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 7035	NM_004562.2(PRKN):c.413-?_534+?del	LOC126859871, PRKN	Deletion	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 7043	NM_004562.3(PRKN):c.483A>T (p.Lys161Asn)	LOC126859871, PRKN (K161N)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 7038	NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)	PRKN (A82E)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 7049	NM_013988.2(PARK2):c.(8_8)_(171_171)+180544del	PACRG, PRKN	Deletion	Lung adenocarcinoma	GPathogenic
Select item 7040	NM_004562.2(PRKN):c.8-?_171+?del	PRKN	Deletion	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 7047	NM_004562.3(PRKN):c.167T>A (p.Val56Glu)	PRKN (V56E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 536457	NM_004562.3(PRKN):c.155del (p.Asn52fs)	PRKN (N52fs)	Deletion (frameshift variant)	Neoplasm of ovary +3 more	GPathogenic
Select item 810636	NM_004562.3(PRKN):c.101del (p.Gln34fs)	PRKN (Q34fs)	Deletion (frameshift variant)	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 7053	NM_004562.3(PRKN):c.7+1G>T	PACRG, PRKN	Single nucleotide variant (splice donor variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 7055	NM_004562.3:c.536_735del	PRKN	Deletion	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 7039	NM_013988.3:c.(?_171+24726)_(424+11283_?)del	PRKN	Deletion	Neoplasm of ovary	GPathogenic

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Items: 23