"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MVP-DT"[ge - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2646368	NM_002383.4(MAZ):c.1314GGCAGCGGC[1] (p.Ala446_Ala448del)	MAZ, MVP-DT	Microsatellite (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2646369	NM_002383.4(MAZ):c.1335A>G (p.Ala445=)	MAZ, MVP-DT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 871888	NM_145239.3(PRRT2):c.27dup (p.Glu10Ter)	MVP-DT, PRRT2 (E10*)	Duplication (nonsense)	Episodic kinesigenic dyskinesia +1 more	GPathogenic
Select item 130039	NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)	MVP-DT, PRRT2 (E23K)	Single nucleotide variant (missense variant)	Infantile convulsions and choreoathetosis +6 more	GConflicting classifications of pathogenicity
Select item 961787	NM_145239.3(PRRT2):c.167C>T (p.Ala56Val)	MVP-DT, PRRT2 (A56V)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1298660	NM_145239.3(PRRT2):c.182C>A (p.Ser61Ter)	MVP-DT, PRRT2 (S61*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 546491	NM_145239.3(PRRT2):c.221C>A (p.Thr74Asn)	MVP-DT, PRRT2 (T74N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 195407	NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu)	MVP-DT, PRRT2 (P75L)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 206679	NM_145239.3(PRRT2):c.225G>A (p.Pro75=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1694791	NM_145239.3(PRRT2):c.250del (p.Ala84fs)	MVP-DT, PRRT2 (A84fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 280022	NM_145239.3(PRRT2):c.323_324del (p.Thr108fs)	MVP-DT, PRRT2 (T108fs)	Deletion (frameshift variant)	Episodic kinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 206700	NM_145239.3(PRRT2):c.433dup (p.Arg145fs)	MVP-DT, PRRT2 (R145fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 871889	NM_145239.3(PRRT2):c.449dup (p.Thr151fs)	MVP-DT, PRRT2 (T151fs)	Duplication (frameshift variant)	Episodic kinesigenic dyskinesia +1 more	GPathogenic
Select item 2646370	NM_145239.3(PRRT2):c.504T>G (p.Pro168=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1449898	NM_145239.3(PRRT2):c.506A>G (p.Glu169Gly)	MVP-DT, PRRT2 (E169G)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +1 more	GUncertain significance
Select item 808026	NM_145239.3(PRRT2):c.525del (p.Glu177fs)	MVP-DT, PRRT2 (E177fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 281503	NM_145239.3(PRRT2):c.564G>A (p.Gln188=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 420877	NM_145239.3(PRRT2):c.580G>A (p.Glu194Lys)	MVP-DT, PRRT2 (E194K)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +2 more	GLikely benign
Select item 818036	NM_145239.3(PRRT2):c.593_594del (p.Pro198fs)	MVP-DT, PRRT2 (P198fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2646371	NM_145239.3(PRRT2):c.594T>C (p.Pro198=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 419406	NM_145239.3(PRRT2):c.604_607del (p.Ser202fs)	MVP-DT, PRRT2 (S202fs)	Microsatellite (frameshift variant)	Episodic kinesigenic dyskinesia +2 more	GPathogenic
Select item 425104	NM_145239.3(PRRT2):c.619_621del (p.Lys207del)	MVP-DT, PRRT2 (K207del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 404415	NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser)	MVP-DT, PRRT2 (N212S)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +4 more	GUncertain significance
Select item 206687	NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro)	MVP-DT, PRRT2 (A214P)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 65758	NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Duplication (frameshift variant)	Neurodevelopmental delay +12 more	GPathogenic/Likely pathogenic
Select item 871890	NM_145239.3(PRRT2):c.641_642insA (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 39752	NM_145239.3(PRRT2):c.649del (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Deletion (frameshift variant)	Infantile convulsions and choreoathetosis +6 more	GPathogenic/Likely pathogenic
Select item 206688	NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg)	MVP-DT, PRRT2 (P215R)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 96494	NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)	MVP-DT, PRRT2 (P216L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 468617	NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter)	MVP-DT, PRRT2 (R217*)	Single nucleotide variant (nonsense)	Episodic kinesigenic dyskinesia +3 more	GPathogenic
Select item 1675618	NM_145239.3(PRRT2):c.694C>T (p.His232Tyr)	MVP-DT, PRRT2 (H232Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046903	NM_145239.3(PRRT2):c.696C>G (p.His232Gln)	MVP-DT, PRRT2 (H232Q)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +1 more	GUncertain significance
Select item 31174	NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)	MVP-DT, PRRT2 (R240*)	Single nucleotide variant (nonsense)	Episodic kinesigenic dyskinesia +3 more	GPathogenic
Select item 284592	NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu)	MVP-DT, PRRT2 (G258E)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 808027	NM_145239.3(PRRT2):c.811C>G (p.Leu271Val)	MVP-DT, PRRT2 (L271V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808028	NM_145239.3(PRRT2):c.866C>T (p.Ala289Val)	MVP-DT, PRRT2 (A289V)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +2 more	GUncertain significance
Select item 932548	NM_145239.3(PRRT2):c.880-34G>A	MVP-DT, PRRT2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 846701	NM_145239.3(PRRT2):c.883C>T (p.Arg295Trp)	MVP-DT, PRRT2 (R295W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1701286	NM_145239.3(PRRT2):c.904_905delinsT (p.Asp302fs)	MVP-DT, PRRT2 (D302fs)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 383530	NM_145239.3(PRRT2):c.912C>T (p.Asp304=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant +1 more)	Episodic kinesigenic dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 2570937	NM_145239.3(PRRT2):c.944T>C (p.Leu315Pro)	MVP-DT, PRRT2 (L315P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3067521	NM_145239.3(PRRT2):c.954C>T (p.Ile318=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 698670	NM_145239.3(PRRT2):c.960G>A (p.Ala320=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 871891	NM_145239.3(PRRT2):c.971dup (p.Val325fs)	MVP-DT, PRRT2 (V325fs)	Duplication (frameshift variant +1 more)	Episodic kinesigenic dyskinesia +4 more	GPathogenic/Likely pathogenic
Select item 206696	NM_145239.3(PRRT2):c.971del (p.Gly324fs)	MVP-DT, PRRT2 (G324fs)	Deletion (frameshift variant +1 more)	Seizures, benign familial infantile, 2 +3 more	GPathogenic/Likely pathogenic
Select item 916311	NM_145239.3(PRRT2):c.970G>A (p.Gly324Arg)	MVP-DT, PRRT2 (G324R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 945026	NM_145239.3(PRRT2):c.971G>A (p.Gly324Glu)	MVP-DT, PRRT2 (G324E)	Single nucleotide variant (missense variant +1 more)	Episodic kinesigenic dyskinesia +1 more	GPathogenic
Select item 536486	NM_145239.3(PRRT2):c.997G>A (p.Val333Ile)	MVP-DT, PRRT2 (V333I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 871892	NM_145239.3(PRRT2):c.1012G>A (p.Val338Met)	MVP-DT, PRRT2 (G338S +1 more)	Single nucleotide variant (missense variant +1 more)	Episodic kinesigenic dyskinesia +1 more	GUncertain significance
Select item 1553084	NM_145239.3(PRRT2):c.1012+20A>G	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant +2 more)	Episodic kinesigenic dyskinesia +1 more	GLikely benign
Select item 2646372	NM_145239.3(PRRT2):c.1012+42T>C	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2578762	NM_145239.3(PRRT2):c.1012+62A>T	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1298661	NM_145239.3(PRRT2):c.1013-74G>A	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1694792	NM_145239.3(PRRT2):c.1013-62T>G	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant +2 more)	PRRT2-related disorder +1 more	GBenign
Select item 2646373	NM_145239.3(PRRT2):c.1013-41T>C	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1335208	NM_145239.3(PRRT2):c.1013-34C>A	MVP-DT, PRRT2 (P381T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 206681	NM_145239.3(PRRT2):c.1013-29C>T	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197379	NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala)	MVP-DT, PRRT2 (V338A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 639189	NM_145239.3(PRRT2):c.1016A>G (p.Tyr339Cys)	MVP-DT, PRRT2 (Y339C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1335209	NM_145239.3(PRRT2):c.1021T>A (p.Ter341Arg)	MVP-DT, PRRT2	Single nucleotide variant (stop lost +1 more)	not provided	GLikely pathogenic

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Items: 60