"GeneDx"[submitter] AND "PNKD"[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 1201202	NC_000002.12:g.218270141T>A	LOC129935593, PNKD	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1203274	NC_000002.12:g.218270142C>A	LOC129935593, PNKD	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
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 334304	NM_015488.4(PNKD):c.-105A>T	LOC129935594, PNKD	Single nucleotide variant	Paroxysmal nonkinesigenic dyskinesia 1 +1 more	GLikely benign
Select item 2575588	NM_015488.5(PNKD):c.16G>T (p.Ala6Ser)	LOC129935594, PNKD (A6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 536495	NM_015488.5(PNKD):c.16G>A (p.Ala6Thr)	LOC129935594, PNKD (A6T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1304272	NM_015488.5(PNKD):c.25G>C (p.Ala9Pro)	PNKD, LOC129935594 (A9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
Select item 3366146	NM_015488.5(PNKD):c.56G>A (p.Arg19His)	LOC129935594, PNKD (R19H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1204275	NM_015488.5(PNKD):c.67+98C>G	LOC129935594, PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2430765	NM_015488.5(PNKD):c.91A>G (p.Asn31Asp)	PNKD (N31D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026610	NM_015488.5(PNKD):c.226G>C (p.Gly76Arg)	PNKD (G76R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3364115	NM_015488.5(PNKD):c.233C>G (p.Ala78Gly)	PNKD (A78G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196909	NM_015488.5(PNKD):c.236+721C>T	PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1264824	NM_015488.5(PNKD):c.236+4016G>C	PNKD, TMBIM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1241809	NM_015488.5(PNKD):c.236+4113A>G	PNKD, TMBIM1	Single nucleotide variant (intron variant)	not provided	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 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 1209167	NM_015488.5(PNKD):c.237-219C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260659	NM_015488.5(PNKD):c.237-31G>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 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 432158	NM_015488.5(PNKD):c.293G>C (p.Arg98Pro)	PNKD, CATIP-AS2 (R98P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 665073	NM_015488.5(PNKD):c.326C>T (p.Ser109Leu)	CATIP-AS2, PNKD (S109L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 468629	NM_015488.5(PNKD):c.350A>G (p.Asn117Ser)	CATIP-AS2, PNKD (N117S +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GBenign
Select item 260661	NM_015488.5(PNKD):c.353-26C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 260660	NM_015488.5(PNKD):c.353-24C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2444579	NM_015488.5(PNKD):c.394A>G (p.Ser132Gly)	CATIP-AS2, PNKD (S108G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215870	NM_015488.5(PNKD):c.433G>C (p.Ala145Pro)	CATIP-AS2, PNKD (A121P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 334316	NM_015488.5(PNKD):c.466-11C>T	PNKD, CATIP-AS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 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 432515	NM_015488.5(PNKD):c.499G>A (p.Ala167Thr)	PNKD, CATIP-AS2 (A167T +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 1204010	NM_015488.5(PNKD):c.524+73G>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273433	NM_015488.5(PNKD):c.524+108G>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273715	NM_015488.5(PNKD):c.524+120C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296949	NM_015488.5(PNKD):c.525-193G>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271373	NM_015488.5(PNKD):c.525-120C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
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 1055499	NM_015488.5(PNKD):c.583G>A (p.Gly195Arg)	CATIP-AS2, PNKD (G171R +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +2 more	GUncertain significance
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 1178968	NM_015488.5(PNKD):c.617+86C>G	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273416	NM_015488.5(PNKD):c.617+143T>C	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250259	NM_015488.5(PNKD):c.618-59A>G	CATIP-AS2, MIR6810 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1219889	NM_015488.5(PNKD):c.618-58C>T	CATIP-AS2, MIR6810 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely 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 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 1266164	NM_015488.5(PNKD):c.781+52C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205779	NM_015488.5(PNKD):c.781+87C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214234	NM_015488.5(PNKD):c.781+297T>C	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236554	NM_015488.5(PNKD):c.782-246A>G	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219667	NM_015488.5(PNKD):c.782-239C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3371791	NM_015488.5(PNKD):c.811A>G (p.Met271Val)	CATIP-AS2, PNKD (M247V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 536503	NM_015488.5(PNKD):c.835C>T (p.Leu279=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3369626	NM_015488.5(PNKD):c.862T>A (p.Trp288Arg)	CATIP-AS2, PNKD (W264R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213035	NM_015488.5(PNKD):c.868+80C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240953	NM_015488.5(PNKD):c.868+168C>G	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187125	NM_015488.5(PNKD):c.869-251G>A	PNKD, CATIP-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 468636	NM_015488.5(PNKD):c.887A>G (p.Glu296Gly)	CATIP-AS2, PNKD (E296G +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GBenign
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 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 567976	NM_015488.5(PNKD):c.964C>T (p.Arg322Trp)	PNKD, CATIP-AS2 (R322W +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 1261920	NM_015488.5(PNKD):c.984+100A>G	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 841872	NM_015488.5(PNKD):c.1009C>T (p.Arg337Cys)	CATIP-AS2, PNKD (R313C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 1399813	NM_015488.5(PNKD):c.1153A>G (p.Lys385Glu)	CATIP-AS2, PNKD (K385E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 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 3361461	NM_015488.5(PNKD):c.1A>T (p.Met1Leu)	PNKD (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 90