PNKD[gene] and "single gene"[properties] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1226098	NC_000002.12:g.218270205A>G	PNKD	Single nucleotide variant	not provided	GBenign
Select item 1290564	NC_000002.12:g.218270227C>T	PNKD	Single nucleotide variant	not provided	GBenign
Select item 1181914	NC_000002.12:g.218270290G>A	PNKD	Single nucleotide variant	not provided	GBenign
Select item 1296572	NM_015488.5(PNKD):c.68-174C>T	PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201746	NM_015488.5(PNKD):c.68-130C>G	PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2148111	NM_015488.5(PNKD):c.68-14A>G	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1127387	NM_015488.5(PNKD):c.68-7T>C	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1106646	NM_015488.5(PNKD):c.69G>A (p.Gly23=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 468635	NM_015488.5(PNKD):c.76_103del (p.Ala26fs)	PNKD (A26fs)	Deletion (frameshift variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 937878	NM_015488.5(PNKD):c.76G>A (p.Ala26Thr)	PNKD (A26T)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2004908	NM_015488.5(PNKD):c.77C>T (p.Ala26Val)	PNKD (A26V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2182728	NM_015488.5(PNKD):c.79G>A (p.Gly27Arg)	PNKD (G27R)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 569744	NM_015488.5(PNKD):c.83C>G (p.Ala28Gly)	PNKD (A28G)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 2430765	NM_015488.5(PNKD):c.91A>G (p.Asn31Asp)	PNKD (N31D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477566	NM_015488.5(PNKD):c.97G>T (p.Ala33Ser)	PNKD (A33S)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
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 2091397	NM_015488.5(PNKD):c.99T>G (p.Ala33=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 650642	NM_015488.5(PNKD):c.101C>G (p.Ser34Cys)	PNKD (S34C)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1086447	NM_015488.5(PNKD):c.108C>T (p.Asn36=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2038567	NM_015488.5(PNKD):c.112A>C (p.Thr38Pro)	PNKD (T38P)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2804690	NM_015488.5(PNKD):c.113C>T (p.Thr38Ile)	PNKD (T38I)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2536981	NM_015488.5(PNKD):c.113C>G (p.Thr38Ser)	PNKD (T38S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2917694	NM_015488.5(PNKD):c.115C>T (p.Arg39Trp)	PNKD (R39W)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1520700	NM_015488.5(PNKD):c.116G>C (p.Arg39Pro)	PNKD (R39P)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	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 2096561	NM_015488.5(PNKD):c.129C>A (p.Ser43Arg)	PNKD (S43R)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1523728	NM_015488.5(PNKD):c.129C>T (p.Ser43=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2126686	NM_015488.5(PNKD):c.134G>C (p.Ser45Thr)	PNKD (S45T)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2908303	NM_015488.5(PNKD):c.138C>T (p.Ser46=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1466289	NM_015488.5(PNKD):c.139C>T (p.Pro47Ser)	PNKD (P47S)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2171792	NM_015488.5(PNKD):c.141A>G (p.Pro47=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1046635	NM_015488.5(PNKD):c.142G>A (p.Glu48Lys)	PNKD (E48K)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 3023770	NM_015488.5(PNKD):c.147_151del (p.Lys50fs)	PNKD (K50fs)	Deletion (frameshift variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 536502	NM_015488.5(PNKD):c.148A>T (p.Lys50Ter)	PNKD (K50*)	Single nucleotide variant (nonsense)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 762016	NM_015488.5(PNKD):c.150G>A (p.Lys50=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2731374	NM_015488.5(PNKD):c.159T>C (p.Pro53=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 415730	NM_015488.5(PNKD):c.165C>T (p.Pro55=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1148153	NM_015488.5(PNKD):c.168A>G (p.Leu56=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1051469	NM_015488.5(PNKD):c.173C>T (p.Pro58Leu)	PNKD (P58L)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1595110	NM_015488.5(PNKD):c.174G>T (p.Pro58=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1560176	NM_015488.5(PNKD):c.180G>A (p.Leu60=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1517144	NM_015488.5(PNKD):c.185A>G (p.Tyr62Cys)	PNKD (Y62C)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1077231	NM_015488.5(PNKD):c.189T>C (p.Ile63=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1519121	NM_015488.5(PNKD):c.196A>G (p.Lys66Glu)	PNKD (K66E)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1955579	NM_015488.5(PNKD):c.203G>T (p.Gly68Val)	PNKD (G68V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1720653	NM_015488.5(PNKD):c.203G>C (p.Gly68Ala)	PNKD (G68A)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 837495	NM_015488.5(PNKD):c.204C>T (p.Gly68=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2961617	NM_015488.5(PNKD):c.211C>G (p.Pro71Ala)	PNKD (P71A)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2842246	NM_015488.5(PNKD):c.218A>G (p.Lys73Arg)	PNKD (K73R)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 952447	NM_015488.5(PNKD):c.220G>T (p.Ala74Ser)	PNKD (A74S)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1026610	NM_015488.5(PNKD):c.226G>C (p.Gly76Arg)	PNKD (G76R)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 840466	NM_015488.5(PNKD):c.229C>G (p.Leu77Val)	PNKD (L77V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1052766	NM_015488.5(PNKD):c.232_236+3del	PNKD	Deletion (splice donor variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 656211	NM_015488.5(PNKD):c.230T>C (p.Leu77Pro)	PNKD (L77P)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 468625	NM_015488.5(PNKD):c.233C>T (p.Ala78Val)	PNKD (A78V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 809156	NM_015488.5(PNKD):c.236G>A (p.Trp79Ter)	PNKD (W79*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1494737	NM_015488.5(PNKD):c.236+6T>C	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2793522	NM_015488.5(PNKD):c.236+8T>C	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2170673	NM_015488.5(PNKD):c.236+15C>A	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2040676	NM_015488.5(PNKD):c.236+15C>G	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1631031	NM_015488.5(PNKD):c.236+18C>T	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1624665	NM_015488.5(PNKD):c.236+18C>G	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1196909	NM_015488.5(PNKD):c.236+721C>T	PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1176419	NM_015488.5(PNKD):c.236+1049_236+1051del	PNKD (L89del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1267027	NM_015488.5(PNKD):c.236+1069G>A	PNKD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2635952	NM_015488.5(PNKD):c.236+1171G>T	PNKD (Q129H)	Single nucleotide variant (missense variant +1 more)	PNKD-related disorder	GUncertain significance
Select item 3046060	NM_015488.5(PNKD):c.236+1179C>T	PNKD (P132L)	Single nucleotide variant (missense variant +1 more)	PNKD-related disorder	GLikely benign
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 1230305	NM_015488.5(PNKD):c.237-16903C>A	PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218156	NM_015488.5(PNKD):c.237-16829G>A	PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261152	NM_015488.5(PNKD):c.237-16808G>A	PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186687	NM_015488.5(PNKD):c.237-16770G>T	PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210755	NM_015488.5(PNKD):c.237-16768G>A	PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238052	NM_015488.5(PNKD):c.237-16766C>T	PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248449	NM_015488.5(PNKD):c.237-16733_237-16732dup	PNKD	Duplication (intron variant)	not provided	GBenign
Select item 1246070	NM_015488.5(PNKD):c.237-16671T>C	PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251784	NM_015488.5(PNKD):c.237-16605C>T	PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3061387	NM_015488.5(PNKD):c.237-16519dup	PNKD	Duplication (5 prime UTR variant +1 more)	PNKD-related disorder	GLikely benign
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 3046050	NM_015488.5(PNKD):c.237-16375C>A	PNKD (S47R)	Single nucleotide variant (missense variant +1 more)	PNKD-related disorder	GBenign
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 1277724	NM_015488.5(PNKD):c.237-16269G>A	PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178971	NM_015488.5(PNKD):c.237-16078C>A	PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247781	NM_015488.5(PNKD):c.237-16063T>G	PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277305	NM_015488.5(PNKD):c.237-16039C>T	PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2426172	NC_000002.11:g.(?_219204486)_(219209704_?)dup	PNKD	Duplication	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2426170	NC_000002.11:g.(?_219204486)_(219209704_?)del	PNKD	Deletion	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1004274	NC_000002.11:g.(?_219204486)_(219209724_?)dup	PNKD	Duplication	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 830738	NC_000002.12:g.(?_218339763)_(218345001_?)del	PNKD	Deletion	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance

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Items: 89