"OMIM"[submitter] AND "MVP-DT"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39755	NM_145239.3(PRRT2):c.291del (p.Asn98fs)	MVP-DT, PRRT2 (N98fs)	Deletion (frameshift variant)	Seizures, benign familial infantile, 2	GPathogenic
Select item 31176	NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter)	MVP-DT, PRRT2 (Q163*)	Single nucleotide variant (nonsense)	Infantile convulsions and choreoathetosis +1 more	GPathogenic
Select item 31169	NM_145239.3(PRRT2):c.514_517del (p.Ser172fs)	MVP-DT, PRRT2 (S172fs)	Microsatellite (frameshift variant)	Episodic kinesigenic dyskinesia	GPathogenic
Select item 31175	NM_145239.3(PRRT2):c.516dup (p.Glu173Ter)	MVP-DT, PRRT2 (E173*)	Duplication (nonsense)	Episodic kinesigenic dyskinesia	GPathogenic
Select item 39753	NM_145239.3(PRRT2):c.562C>T (p.Gln188Ter)	MVP-DT, PRRT2 (Q188*)	Single nucleotide variant (nonsense)	Infantile convulsions and choreoathetosis	GPathogenic
Select item 31171	NM_145239.3(PRRT2):c.629dup (p.Ala211fs)	MVP-DT, PRRT2 (A211fs)	Duplication (frameshift variant)	Episodic kinesigenic dyskinesia +2 more	GPathogenic
Select item 39754	NM_145239.3(PRRT2):c.629del (p.Pro210fs)	MVP-DT, PRRT2 (P210fs)	Deletion (frameshift variant)	Episodic kinesigenic dyskinesia 1 +1 more	GPathogenic
Select item 65758	NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Duplication (frameshift variant)	Seizure +13 more	GPathogenic/Likely pathogenic
Select item 39752	NM_145239.3(PRRT2):c.649del (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Deletion (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 183020	NM_145239.3(PRRT2):c.650del (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 31174	NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)	PRRT2, MVP-DT (R240*)	Single nucleotide variant (nonsense)	Episodic kinesigenic dyskinesia +3 more	GPathogenic
Select item 39756	NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter)	MVP-DT, PRRT2 (Q250*)	Single nucleotide variant (nonsense)	Episodic kinesigenic dyskinesia 1	GPathogenic
Select item 31177	NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp)	MVP-DT, PRRT2 (R266W)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 31173	NM_145239.3(PRRT2):c.879+5G>A	MVP-DT, PRRT2 (S295N)	Single nucleotide variant (missense variant +1 more)	Seizures, benign familial infantile, 2	GPathogenic
Select item 31172	NM_145239.3(PRRT2):c.950G>A (p.Ser317Asn)	MVP-DT, PRRT2 (S317N)	Single nucleotide variant (missense variant +1 more)	Episodic kinesigenic dyskinesia	GPathogenic
Select item 31170	NM_145239.3(PRRT2):c.972del (p.Val325fs)	MVP-DT, PRRT2 (V325fs)	Deletion (3 prime UTR variant +1 more)	Episodic kinesigenic dyskinesia 1	GPathogenic
Select item 1172676	NM_024516.4(PAGR1):c.274A>G (p.Ser92Gly)	PAGR1, MVP-DT (S92G)	Single nucleotide variant (missense variant)	lethal neurodevelopmental disorder	GLikely pathogenic