"Ambry Genetics"[submitter] AND "MVP-DT"[gene] - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2611148	NM_002383.4(MAZ):c.1280-528C>A	MAZ, MVP-DT (T430K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124005	NM_002383.4(MAZ):c.1280-474G>A	MAZ, MVP-DT (R448Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263386	NM_002383.4(MAZ):c.1280-426C>T	MAZ, MVP-DT (P464L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543201	NM_002383.4(MAZ):c.1280-385G>A	MAZ, MVP-DT (A478T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124006	NM_002383.4(MAZ):c.1280-357C>T	MAZ, MVP-DT (P487L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404444	NM_002383.4(MAZ):c.1280-353G>C	MAZ, MVP-DT (Q488H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404955	NM_002383.4(MAZ):c.1280-347G>C	MAZ, MVP-DT (Q490H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1746689	NM_145239.3(PRRT2):c.52C>A (p.Pro18Thr)	MVP-DT, PRRT2 (P18T)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +1 more	GUncertain significance
Select item 1509228	NM_145239.3(PRRT2):c.64G>A (p.Gly22Ser)	MVP-DT, PRRT2 (G22S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 130039	NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)	MVP-DT, PRRT2 (E23K)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2152981	NM_145239.3(PRRT2):c.116C>T (p.Ala39Val)	MVP-DT, PRRT2 (A39V)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +1 more	GUncertain significance
Select item 633492	NM_145239.3(PRRT2):c.125C>T (p.Pro42Leu)	MVP-DT, PRRT2 (P42L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 206678	NM_145239.3(PRRT2):c.133C>T (p.Pro45Ser)	MVP-DT, PRRT2 (P45S)	Single nucleotide variant (missense variant)	not specified +3 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)	not specified +3 more	GBenign/Likely benign
Select item 2228464	NM_145239.3(PRRT2):c.248A>C (p.Gln83Pro)	MVP-DT, PRRT2 (Q83P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1794646	NM_145239.3(PRRT2):c.267A>G (p.Leu89=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 939881	NM_145239.3(PRRT2):c.272C>T (p.Pro91Leu)	MVP-DT, PRRT2 (P91L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 799042	NM_145239.3(PRRT2):c.279G>A (p.Gly93=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 853525	NM_145239.3(PRRT2):c.282_283insC (p.Ser95fs)	MVP-DT, PRRT2 (S95fs)	Insertion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 206680	NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr)	MVP-DT, PRRT2 (A118T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 388781	NM_145239.3(PRRT2):c.357T>G (p.Thr119=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 839697	NM_145239.3(PRRT2):c.404_427del (p.Ala135_Pro142del)	MVP-DT, PRRT2	Deletion (inframe_deletion)	Episodic kinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 130038	NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala)	MVP-DT, PRRT2 (P138A)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 536494	NM_145239.3(PRRT2):c.432C>T (p.Pro144=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 641115	NM_145239.3(PRRT2):c.433C>T (p.Arg145Trp)	MVP-DT, PRRT2 (R145W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 568591	NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln)	MVP-DT, PRRT2 (R145Q)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +5 more	GConflicting classifications of pathogenicity
Select item 138813	NM_145239.3(PRRT2):c.439G>C (p.Asp147His)	MVP-DT, PRRT2 (D147H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 1585037	NM_145239.3(PRRT2):c.459G>A (p.Lys153=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 966246	NM_145239.3(PRRT2):c.464C>G (p.Ala155Gly)	MVP-DT, PRRT2 (A155G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2479556	NM_145239.3(PRRT2):c.471A>C (p.Gln157His)	MVP-DT, PRRT2 (Q157H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 576233	NM_145239.3(PRRT2):c.493G>A (p.Asp165Asn)	MVP-DT, PRRT2 (D165N)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +1 more	GUncertain significance
Select item 384068	NM_145239.3(PRRT2):c.519G>A (p.Glu173=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 698961	NM_145239.3(PRRT2):c.528G>A (p.Gly176=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Episodic kinesigenic dyskinesia +1 more	GLikely benign
Select item 281503	NM_145239.3(PRRT2):c.564G>A (p.Gln188=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	not provided +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)	not provided +2 more	GLikely benign
Select item 2538812	NM_145239.3(PRRT2):c.584G>A (p.Gly195Asp)	MVP-DT, PRRT2 (G195D)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +1 more	GUncertain significance
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 138814	NM_145239.3(PRRT2):c.612C>G (p.Pro204=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Episodic kinesigenic dyskinesia +2 more	GBenign/Likely benign
Select item 3219733	NM_145239.3(PRRT2):c.635A>C (p.Asn212Thr)	MVP-DT, PRRT2 (N212T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 +3 more	GConflicting classifications of pathogenicity
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 1040838	NM_145239.3(PRRT2):c.641C>G (p.Ala214Gly)	MVP-DT, PRRT2 (A214G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 666144	NM_145239.3(PRRT2):c.643C>T (p.Pro215Ser)	MVP-DT, PRRT2 (P215S)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 206688	NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg)	MVP-DT, PRRT2 (P215R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 378432	NM_145239.3(PRRT2):c.645C>T (p.Pro215=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 206689	NM_145239.3(PRRT2):c.647C>A (p.Pro216His)	MVP-DT, PRRT2 (P216H)	Single nucleotide variant (missense variant)	not provided +6 more	GLikely benign
Select item 96494	NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)	MVP-DT, PRRT2 (P216L)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 2 +6 more	GBenign/Likely benign
Select item 65757	NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg)	MVP-DT, PRRT2 (P216R)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia 1 +4 more	GConflicting classifications of pathogenicity
Select item 588800	NM_145239.3(PRRT2):c.648C>T (p.Pro216=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1006059	NM_145239.3(PRRT2):c.649C>G (p.Arg217Gly)	MVP-DT, PRRT2 (R217G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1085829	NM_145239.3(PRRT2):c.651A>G (p.Arg217=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Episodic kinesigenic dyskinesia +1 more	GLikely benign
Select item 1757213	NM_145239.3(PRRT2):c.710del (p.Gly237fs)	MVP-DT, PRRT2 (G237fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 241953	NM_145239.3(PRRT2):c.719G>A (p.Arg240Gln)	MVP-DT, PRRT2 (R240Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1469634	NM_145239.3(PRRT2):c.731G>A (p.Ser244Asn)	MVP-DT, PRRT2 (S244N)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +1 more	GUncertain significance
Select item 1142044	NM_145239.3(PRRT2):c.753G>A (p.Leu251=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 506531	NM_145239.3(PRRT2):c.755C>G (p.Ala252Gly)	MVP-DT, PRRT2 (A252G)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 3219735	NM_145239.3(PRRT2):c.760C>T (p.Pro254Ser)	MVP-DT, PRRT2 (P254S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 589154	NM_145239.3(PRRT2):c.772G>C (p.Gly258Arg)	MVP-DT, PRRT2 (G258R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 589991	NM_145239.3(PRRT2):c.802_804del (p.Tyr268del)	MVP-DT, PRRT2 (Y268del)	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 167545	NM_145239.3(PRRT2):c.828C>T (p.Cys276=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 838983	NM_145239.3(PRRT2):c.907G>A (p.Val303Met)	MVP-DT, PRRT2 (V303M)	Single nucleotide variant (missense variant +1 more)	Episodic kinesigenic dyskinesia +1 more	GUncertain significance
Select item 167547	NM_145239.3(PRRT2):c.916G>A (p.Ala306Thr)	MVP-DT, PRRT2 (A306T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 404416	NM_145239.3(PRRT2):c.923G>A (p.Arg308His)	MVP-DT, PRRT2 (R308H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 698670	NM_145239.3(PRRT2):c.960G>A (p.Ala320=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant +1 more)	Episodic kinesigenic dyskinesia +2 more	GBenign/Likely benign
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)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2599510	NM_024516.4(PAGR1):c.11C>T (p.Ala4Val)	MVP-DT, PAGR1 (A4V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378157	NM_024516.4(PAGR1):c.29C>T (p.Thr10Ile)	MVP-DT, PAGR1 (T10I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2405981	NM_024516.4(PAGR1):c.32C>T (p.Ala11Val)	MVP-DT, PAGR1 (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342654	NM_024516.4(PAGR1):c.37A>T (p.Ser13Cys)	MVP-DT, PAGR1 (S13C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303952	NM_024516.4(PAGR1):c.55T>C (p.Ser19Pro)	MVP-DT, PAGR1 (S19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386435	NM_024516.4(PAGR1):c.154G>A (p.Gly52Arg)	MVP-DT, PAGR1 (G52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208020	NM_024516.4(PAGR1):c.172G>A (p.Glu58Lys)	MVP-DT, PAGR1 (E58K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619367	NM_024516.4(PAGR1):c.185C>T (p.Ser62Phe)	MVP-DT, PAGR1 (S62F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217902	NM_024516.4(PAGR1):c.206G>C (p.Gly69Ala)	MVP-DT, PAGR1 (G69A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525811	NM_024516.4(PAGR1):c.217A>C (p.Ser73Arg)	MVP-DT, PAGR1 (S73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266296	NM_024516.4(PAGR1):c.238G>C (p.Ala80Pro)	MVP-DT, PAGR1 (A80P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208021	NM_024516.4(PAGR1):c.245A>G (p.Glu82Gly)	MVP-DT, PAGR1 (E82G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303953	NM_024516.4(PAGR1):c.319C>A (p.Pro107Thr)	MVP-DT, PAGR1 (P107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491629	NM_024516.4(PAGR1):c.374T>C (p.Leu125Pro)	MVP-DT, PAGR1 (L125P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619056	NM_024516.4(PAGR1):c.388G>A (p.Glu130Lys)	MVP-DT, PAGR1 (E130K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293806	NM_024516.4(PAGR1):c.404G>A (p.Arg135Gln)	MVP-DT, PAGR1 (R135Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208022	NM_024516.4(PAGR1):c.530C>G (p.Pro177Arg)	MVP-DT, PAGR1 (P177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 85