ClinVar for MedGen (Select 1631383) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241978	NM_015488.5(PNKD):c.670C>T (p.Leu224=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 2627399	NM_015488.5(PNKD):c.122T>C (p.Leu41Pro)	PNKD (L41P)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 1915237	NM_015488.5(PNKD):c.984+2T>G	CATIP-AS2, PNKD	Single nucleotide variant (splice donor variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 1878571	NM_015488.5(PNKD):c.1108C>T (p.Gln370Ter)	CATIP-AS2, PNKD (Q346* +1 more)	Single nucleotide variant (nonsense)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 1698915	NM_015488.5(PNKD):c.318A>T (p.Lys106Asn)	CATIP-AS2, PNKD (K106N +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 1329493	NM_015488.5(PNKD):c.490A>G (p.Thr164Ala)	CATIP-AS2, PNKD (T140A +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 1149077	NM_015488.5(PNKD):c.1102C>T (p.Arg368Trp)	CATIP-AS2, PNKD (R344W +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1062866	NM_015488.5(PNKD):c.465+3G>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 1042649	NM_015488.5(PNKD):c.408C>G (p.Ile136Met)	CATIP-AS2, PNKD (I136M +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 976065	NM_015488.5(PNKD):c.878A>G (p.Tyr293Cys)	CATIP-AS2, PNKD (Y269C +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 943951	NM_015488.5(PNKD):c.932G>A (p.Arg311Gln)	CATIP-AS2, PNKD (R287Q +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 934150	NM_015488.5(PNKD):c.67+1G>C	LOC129935594, PNKD	Single nucleotide variant (splice donor variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 931799	NM_015488.5(PNKD):c.733G>T (p.Gly245Cys)	CATIP-AS2, PNKD (G221C +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 931660	NM_015488.5(PNKD):c.1115T>C (p.Leu372Pro)	PNKD, CATIP-AS2 (L348P +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 930368	NM_015488.5(PNKD):c.237-16514T>A	PNKD (M1K)	Single nucleotide variant (missense variant +2 more)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 898619	NM_015488.5(PNKD):c.*1725T>C	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GBenign
Select item 898563	NM_015488.5(PNKD):c.*253C>T	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 898562	NM_015488.5(PNKD):c.*212G>A	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 898561	NM_015488.5(PNKD):c.*211C>T	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1 +1 more	GBenign/Likely benign
Select item 898560	NM_015488.5(PNKD):c.*155C>T	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1 +1 more	GConflicting classifications of pathogenicity
Select item 897463	NM_015488.5(PNKD):c.*1665G>A	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GBenign
Select item 897462	NM_015488.5(PNKD):c.*1569C>T	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 897461	NM_015488.5(PNKD):c.*1549G>A	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GBenign
Select item 897460	NM_015488.5(PNKD):c.*1490G>A	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 897459	NM_015488.5(PNKD):c.*1305A>G	PNKD, CATIP-AS2	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 897458	NM_015488.5(PNKD):c.*1216G>A	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 895571	NM_015488.5(PNKD):c.*868T>C	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 895570	NM_015488.5(PNKD):c.*679C>T	PNKD, CATIP-AS2	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 895493	NM_015488.5(PNKD):c.368C>T (p.Pro123Leu)	CATIP-AS2, PNKD (P99L +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 895492	NM_015488.5(PNKD):c.341G>A (p.Arg114His)	CATIP-AS2, PNKD (R90H +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 654532	NM_015488.5(PNKD):c.293G>T (p.Arg98Leu)	CATIP-AS2, PNKD (R74L +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1 +2 more	GConflicting classifications of pathogenicity
Select item 582035	NM_015488.5(PNKD):c.1130G>A (p.Arg377Gln)	CATIP-AS2, PNKD (R377Q +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 581050	NM_015488.5(PNKD):c.618T>A (p.His206Gln)	CATIP-AS2, PNKD (H206Q +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 536504	NM_015488.5(PNKD):c.919G>A (p.Glu307Lys)	CATIP-AS2, PNKD (E307K +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1 +2 more	GBenign/Likely benign
Select item 523930	NM_015488.5(PNKD):c.585del (p.Ser196fs)	CATIP-AS2, PNKD (S196fs +1 more)	Deletion (frameshift variant)	not specified +3 more	GUncertain significance
Select item 522936	NM_015488.5(PNKD):c.237-16374C>T	PNKD (Q48*)	Single nucleotide variant (nonsense +1 more)	Paroxysmal nonkinesigenic dyskinesia 1 +1 more	GUncertain significance
Select item 518335	NM_015488.5(PNKD):c.236+1180G>A	PNKD	Single nucleotide variant (synonymous variant +1 more)	Paroxysmal nonkinesigenic dyskinesia 1	GBenign
Select item 468634	NM_015488.5(PNKD):c.559C>T (p.Arg187Trp)	PNKD, CATIP-AS2 (R187W +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 468628	NM_015488.5(PNKD):c.301C>T (p.Arg101Trp)	CATIP-AS2, PNKD (R101W +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1 +1 more	GConflicting classifications of pathogenicity
Select item 468627	NM_015488.5(PNKD):c.24G>A (p.Thr8=)	PNKD, LOC129935594	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia +2 more	GLikely benign
Select item 415731	NM_015488.5(PNKD):c.237-9G>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia 1 +2 more	GBenign/Likely benign
Select item 377052	NM_015488.5(PNKD):c.323A>G (p.His108Arg)	CATIP-AS2, PNKD (H108R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 369329	NC_000002.12:g.218346802C>T	CATIP-AS2, PNKD	Single nucleotide variant	Paroxysmal nonkinesigenic dyskinesia 1 +1 more	GLikely benign
Select item 334351	NM_015488.5(PNKD):c.*1723T>C	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GBenign
Select item 334350	NM_015488.5(PNKD):c.*1476A>G	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 334349	NM_015488.5(PNKD):c.*1193C>T	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 334348	NM_015488.5(PNKD):c.*1141G>A	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GBenign
Select item 334347	NM_015488.5(PNKD):c.*1139C>G	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GBenign
Select item 334346	NM_015488.5(PNKD):c.*1118T>A	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 334345	NM_015488.5(PNKD):c.*1077G>A	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 334344	NM_015488.5(PNKD):c.*992C>G	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GBenign
Select item 334343	NM_015488.5(PNKD):c.*982C>T	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GBenign
Select item 334342	NM_015488.5(PNKD):c.*902T>C	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 334341	NM_015488.5(PNKD):c.*838C>T	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 334340	NM_015488.5(PNKD):c.*826G>T	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 334339	NM_015488.5(PNKD):c.680_681dup	CATIP-AS2, PNKD	Duplication (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GBenign
Select item 334338	NM_015488.5(PNKD):c.*607T>C	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GBenign
Select item 334337	NM_015488.5(PNKD):c.*507G>C	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 334336	NM_015488.5(PNKD):c.*451A>G	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GBenign
Select item 334335	NM_015488.5(PNKD):c.*311G>T	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GLikely benign
Select item 334334	NM_015488.5(PNKD):c.*206C>T	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 334333	NM_015488.5(PNKD):c.*181G>C	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 334332	NM_015488.5(PNKD):c.*92C>A	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1 +1 more	GBenign
Select item 334331	NM_015488.5(PNKD):c.*38G>A	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GBenign
Select item 334330	NM_015488.5(PNKD):c.*33C>T	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1	GBenign
Select item 334329	NM_015488.5(PNKD):c.1140_1145del (p.Met381_His382del)	CATIP-AS2, PNKD	Deletion (inframe_deletion)	Paroxysmal nonkinesigenic dyskinesia +2 more	GBenign/Likely benign
Select item 334328	NM_015488.5(PNKD):c.959G>A (p.Arg320Gln)	CATIP-AS2, PNKD (R320Q +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 334327	NM_015488.5(PNKD):c.939G>A (p.Arg313=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 334326	NM_015488.5(PNKD):c.785G>A (p.Arg262Gln)	CATIP-AS2, PNKD (R262Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 334325	NM_015488.5(PNKD):c.781+12C>G	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia 1	GLikely benign
Select item 334324	NM_015488.5(PNKD):c.653G>A (p.Arg218Gln)	CATIP-AS2, PNKD (R218Q +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GBenign/Likely benign
Select item 334323	NM_015488.5(PNKD):c.652C>A (p.Arg218=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia +2 more	GBenign
Select item 334322	NM_015488.5(PNKD):c.628C>A (p.His210Asn)	CATIP-AS2, PNKD (H210N +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 334321	NM_015488.5(PNKD):c.597C>T (p.Asp199=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 334320	NM_015488.5(PNKD):c.560G>A (p.Arg187Gln)	CATIP-AS2, PNKD (R187Q +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +2 more	GBenign/Likely benign
Select item 334319	NM_015488.5(PNKD):c.524+13C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GBenign
Select item 334318	NM_015488.5(PNKD):c.476A>T (p.Glu159Val)	PNKD, CATIP-AS2 (E159V +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 334317	NM_015488.5(PNKD):c.466-3C>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 334316	NM_015488.5(PNKD):c.466-11C>T	PNKD, CATIP-AS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 334315	NM_015488.5(PNKD):c.455G>A (p.Arg152Gln)	CATIP-AS2, PNKD (R152Q +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +2 more	GBenign
Select item 334314	NM_015488.5(PNKD):c.352+12C>T	PNKD, CATIP-AS2	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GBenign
Select item 334313	NM_015488.5(PNKD):c.331A>G (p.Thr111Ala)	PNKD, CATIP-AS2 (T111A +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 334312	NM_015488.5(PNKD):c.302G>A (p.Arg101Gln)	PNKD, CATIP-AS2 (R101Q +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +2 more	GUncertain significance
Select item 334311	NM_015488.5(PNKD):c.299C>T (p.Ala100Val)	CATIP-AS2, PNKD (A100V +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 334310	NM_015488.5(PNKD):c.265G>A (p.Gly89Arg)	PNKD, CATIP-AS2 (G89R +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1 +2 more	GBenign/Likely benign
Select item 334309	NM_015488.5(PNKD):c.254G>A (p.Arg85His)	PNKD, CATIP-AS2 (R85H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 334308	NM_015488.5(PNKD):c.37C>T (p.Arg13Trp)	LOC129935594, PNKD (R13W)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 334307	NM_015488.5(PNKD):c.2T>G (p.Met1Arg)	LOC129935594, PNKD (M1R)	Single nucleotide variant (missense variant +1 more)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 334306	NM_015488.4(PNKD):c.-65G>A	PNKD, LOC129935594	Single nucleotide variant	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 334305	NM_015488.4(PNKD):c.-79C>A	LOC129935594, PNKD	Single nucleotide variant	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 334304	NM_015488.4(PNKD):c.-105A>T	LOC129935594, PNKD	Single nucleotide variant	Paroxysmal nonkinesigenic dyskinesia 1 +1 more	GLikely benign
Select item 260663	NM_015488.5(PNKD):c.781+12C>T	PNKD, CATIP-AS2	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia +3 more	GBenign/Likely benign
Select item 260662	NM_015488.5(PNKD):c.486G>A (p.Gly162=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia +3 more	GBenign
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 1894	NM_015488.5(PNKD):c.97G>C (p.Ala33Pro)	PNKD (A33P)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1893	NM_015488.5(PNKD):c.20C>T (p.Ala7Val)	LOC129935594, PNKD (A7V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1892	NM_015488.5(PNKD):c.26C>T (p.Ala9Val)	LOC129935594, PNKD (A9V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 97