"GeneDx"[submitter] AND "PRRT2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 60372	GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	LOC130058756, LOC130058757 +170 more	Copy number loss	See cases	GPathogenic
Select item 1267738	NC_000016.10:g.29812021T>C	MVP-DT, PRRT2	Single nucleotide variant	not provided	GBenign
Select item 511786	NM_145239.3(PRRT2):c.-88_-66+6del	MVP-DT, PRRT2	Deletion (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 206694	NM_145239.3(PRRT2):c.-66+1G>A	MVP-DT, PRRT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 668441	NM_145239.3(PRRT2):c.-66+19G>A	MVP-DT, PRRT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 422999	NM_145239.3(PRRT2):c.-65-28_-65-7dup	MVP-DT, PRRT2	Duplication (intron variant)	not specified	GLikely benign
Select item 510853	NM_145239.3(PRRT2):c.-65-15CTC[2]	MVP-DT, PRRT2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 546404	NM_145239.3(PRRT2):c.-65-2dup	MVP-DT, PRRT2	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 388567	NM_145239.3(PRRT2):c.-58C>T	MVP-DT, PRRT2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 388392	NM_145239.3(PRRT2):c.-57G>A	MVP-DT, PRRT2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 383450	NM_145239.3(PRRT2):c.-32C>T	MVP-DT, PRRT2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 805245	NM_145239.3(PRRT2):c.-30T>C	MVP-DT, PRRT2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign/Likely benign
Select item 388917	NM_145239.3(PRRT2):c.-25G>C	MVP-DT, PRRT2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 681547	NM_145239.3(PRRT2):c.-15dup	MVP-DT, PRRT2	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 206697	NM_145239.3(PRRT2):c.32T>G (p.Met11Arg)	MVP-DT, PRRT2 (M11R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946018	NM_145239.3(PRRT2):c.43G>A (p.Glu15Lys)	MVP-DT, PRRT2 (E15K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1201313	NM_145239.3(PRRT2):c.47A>G (p.Glu16Gly)	MVP-DT, PRRT2 (E16G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 468618	NM_145239.3(PRRT2):c.66C>T (p.Gly22=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 1342734	NM_145239.3(PRRT2):c.77G>C (p.Gly26Ala)	MVP-DT, PRRT2 (G26A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451104	NM_145239.3(PRRT2):c.85G>T (p.Glu29Ter)	MVP-DT, PRRT2 (E29*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 449702	NM_145239.3(PRRT2):c.85G>A (p.Glu29Lys)	MVP-DT, PRRT2 (E29K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 381356	NM_145239.3(PRRT2):c.87A>G (p.Glu29=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Episodic kinesigenic dyskinesia +1 more	GLikely benign
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 2120659	NM_145239.3(PRRT2):c.145C>G (p.Gln49Glu)	MVP-DT, PRRT2 (Q49E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1191499	NM_145239.3(PRRT2):c.165T>G (p.Thr55=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 206695	NM_145239.3(PRRT2):c.173del (p.Pro58fs)	MVP-DT, PRRT2 (P58fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 386154	NM_145239.3(PRRT2):c.171C>T (p.Ala57=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Episodic kinesigenic dyskinesia +1 more	GLikely benign
Select item 536489	NM_145239.3(PRRT2):c.183A>G (p.Ser61=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Episodic kinesigenic dyskinesia +1 more	GLikely benign
Select item 280549	NM_145239.3(PRRT2):c.191_207dup (p.Glu70fs)	MVP-DT, PRRT2 (E70fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 280358	NM_145239.3(PRRT2):c.210_211del (p.Glu70fs)	MVP-DT, PRRT2 (E70fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 206699	NM_145239.3(PRRT2):c.215_216del (p.Thr72fs)	MVP-DT, PRRT2 (T72fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1308757	NM_145239.3(PRRT2):c.215C>T (p.Thr72Ile)	MVP-DT, PRRT2 (T72I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372727	NM_145239.3(PRRT2):c.219_220del (p.Glu73fs)	MVP-DT, PRRT2 (E73fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1307508	NM_145239.3(PRRT2):c.221C>T (p.Thr74Ile)	MVP-DT, PRRT2 (T74I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 423511	NM_145239.3(PRRT2):c.239A>G (p.Glu80Gly)	MVP-DT, PRRT2 (E80G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 646541	NM_145239.3(PRRT2):c.259C>G (p.Leu87Val)	MVP-DT, PRRT2 (L87V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 515775	NM_145239.3(PRRT2):c.264C>T (p.Ser88=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3372978	NM_145239.3(PRRT2):c.302C>A (p.Pro101His)	MVP-DT, PRRT2 (P101H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 536492	NM_145239.3(PRRT2):c.303C>T (p.Pro101=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Episodic kinesigenic dyskinesia +1 more	GLikely benign
Select item 668445	NM_145239.3(PRRT2):c.309C>T (p.Asp103=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Episodic kinesigenic dyskinesia +1 more	GLikely benign
Select item 280022	NM_145239.3(PRRT2):c.323_324del (p.Thr108fs)	MVP-DT, PRRT2 (T108fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 280888	NM_145239.3(PRRT2):c.324_325del (p.Ser110fs)	MVP-DT, PRRT2 (S110fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1706299	NM_145239.3(PRRT2):c.325G>A (p.Val109Met)	MVP-DT, PRRT2 (V109M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595501	NM_145239.3(PRRT2):c.347A>T (p.Lys116Ile)	MVP-DT, PRRT2 (K116I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2575683	NM_145239.3(PRRT2):c.363C>G (p.Asp121Glu)	MVP-DT, PRRT2 (D121E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381262	NM_145239.3(PRRT2):c.369G>T (p.Gly123=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Episodic kinesigenic dyskinesia +1 more	GLikely benign
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 206683	NM_145239.3(PRRT2):c.415G>A (p.Ala139Thr)	MVP-DT, PRRT2 (A139T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206700	NM_145239.3(PRRT2):c.433dup (p.Arg145fs)	MVP-DT, PRRT2 (R145fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1312389	NM_145239.3(PRRT2):c.429C>G (p.Asp143Glu)	MVP-DT, PRRT2 (D143E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451350	NM_145239.3(PRRT2):c.431C>T (p.Pro144Leu)	MVP-DT, PRRT2 (P144L)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +1 more	GUncertain significance
Select item 1342554	NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr)	MVP-DT, PRRT2 (P146T)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +4 more	GUncertain significance
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 373401	NM_145239.3(PRRT2):c.455C>A (p.Pro152His)	MVP-DT, PRRT2 (P152H)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +1 more	GUncertain significance
Select item 206684	NM_145239.3(PRRT2):c.460C>T (p.Pro154Ser)	MVP-DT, PRRT2 (P154S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 511085	NM_145239.3(PRRT2):c.471A>G (p.Gln157=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3343499	NM_145239.3(PRRT2):c.500C>G (p.Thr167Ser)	MVP-DT, PRRT2 (T167S)	Single nucleotide variant (missense variant)	not provided	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 449142	NM_145239.3(PRRT2):c.522T>G (p.Ser174Arg)	MVP-DT, PRRT2 (S174R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 430515	NM_145239.3(PRRT2):c.577dup (p.Glu193fs)	MVP-DT, PRRT2 (E193fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 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 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 206685	NM_145239.3(PRRT2):c.603C>G (p.His201Gln)	MVP-DT, PRRT2 (H201Q)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
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 31171	NM_145239.3(PRRT2):c.629dup (p.Ala211fs)	MVP-DT, PRRT2 (A211fs)	Duplication (frameshift variant)	Episodic kinesigenic dyskinesia +2 more	GPathogenic
Select item 703480	NM_145239.3(PRRT2):c.623C>A (p.Ser208Tyr)	MVP-DT, PRRT2 (S208Y)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 206698	NM_145239.3(PRRT2):c.623C>T (p.Ser208Phe)	MVP-DT, PRRT2 (S208F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 206686	NM_145239.3(PRRT2):c.638G>A (p.Gly213Glu)	MVP-DT, PRRT2 (G213E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504178	NM_145239.3(PRRT2):c.640delinsCC (p.Ala214fs)	MVP-DT, PRRT2 (A214fs)	Indel (frameshift variant)	not provided	GPathogenic
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 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 468617	NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter)	MVP-DT, PRRT2 (R217*)	Single nucleotide variant (nonsense)	Infantile convulsions and choreoathetosis +4 more	GPathogenic
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 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 138815	NM_145239.3(PRRT2):c.751= (p.Leu251=)	MVP-DT, PRRT2	Single nucleotide variant (no sequence alteration)	not provided +2 more	GBenign
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 3369572	NM_145239.3(PRRT2):c.758G>C (p.Gly253Ala)	MVP-DT, PRRT2 (G253A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280822	NM_145239.3(PRRT2):c.769_778del (p.Glu257fs)	MVP-DT, PRRT2 (E257fs)	Deletion (frameshift variant)	not provided +1 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

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