PNKD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
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 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 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	not provided +1 more	GLikely benign
Select item 334305	NM_015488.4(PNKD):c.-79C>A	PNKD, LOC129935594	Single nucleotide variant	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 334306	NM_015488.4(PNKD):c.-65G>A	LOC129935594, PNKD	Single nucleotide variant	Paroxysmal nonkinesigenic dyskinesia 1	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 2620382	NM_015488.5(PNKD):c.5C>T (p.Ala2Val)	LOC129935594, PNKD (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1554107	NM_015488.5(PNKD):c.6G>T (p.Ala2=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 856769	NM_015488.5(PNKD):c.8C>T (p.Ala3Val)	LOC129935594, PNKD (A3V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2731442	NM_015488.5(PNKD):c.11T>C (p.Val4Ala)	PNKD, LOC129935594 (V4A)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1508800	NM_015488.5(PNKD):c.14T>G (p.Val5Gly)	LOC129935594, PNKD (V5G)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1124675	NM_015488.5(PNKD):c.15A>G (p.Val5=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	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 1357065	NM_015488.5(PNKD):c.17C>T (p.Ala6Val)	LOC129935594, PNKD (A6V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
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 2744706	NM_015488.5(PNKD):c.22A>G (p.Thr8Ala)	LOC129935594, PNKD (T8A)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
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 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 2732069	NM_015488.5(PNKD):c.27G>A (p.Ala9=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 536505	NM_015488.5(PNKD):c.33G>A (p.Lys11=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2784013	NM_015488.5(PNKD):c.35G>A (p.Gly12Asp)	LOC129935594, PNKD (G12D)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2983070	NM_015488.5(PNKD):c.36C>T (p.Gly12=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 667313	NM_015488.5(PNKD):c.43dup (p.Ala15fs)	LOC129935594, PNKD (A15fs)	Duplication (frameshift variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
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 1630332	NM_015488.5(PNKD):c.39G>C (p.Arg13=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1423266	NM_015488.5(PNKD):c.40G>A (p.Gly14Arg)	LOC129935594, PNKD (G14R)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1584200	NM_015488.5(PNKD):c.42G>A (p.Gly14=)	PNKD, LOC129935594	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2730009	NM_015488.5(PNKD):c.45G>A (p.Ala15=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1377758	NM_015488.5(PNKD):c.46A>G (p.Arg16Gly)	LOC129935594, PNKD (R16G)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 468632	NM_015488.5(PNKD):c.47G>T (p.Arg16Ile)	LOC129935594, PNKD (R16I)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2024070	NM_015488.5(PNKD):c.48A>G (p.Arg16=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2090066	NM_015488.5(PNKD):c.49_53del (p.Asn17fs)	LOC129935594, PNKD (N17fs)	Deletion (frameshift variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2055628	NM_015488.5(PNKD):c.55dup (p.Arg19fs)	LOC129935594, PNKD (R19fs)	Duplication (frameshift variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1935367	NM_015488.5(PNKD):c.53C>T (p.Ala18Val)	LOC129935594, PNKD (A18V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1015237	NM_015488.5(PNKD):c.55C>G (p.Arg19Gly)	LOC129935594, PNKD (R19G)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 950139	NM_015488.5(PNKD):c.55C>T (p.Arg19Cys)	LOC129935594, PNKD (R19C)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
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 966725	NM_015488.5(PNKD):c.61C>T (p.Leu21Phe)	LOC129935594, PNKD (L21F)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 241061	NM_015488.5(PNKD):c.65G>A (p.Arg22Gln)	LOC129935594, PNKD (R22Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 935685	NM_015488.5(PNKD):c.67G>A (p.Gly23Arg)	LOC129935594, PNKD (G23R)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	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 1373274	NM_015488.5(PNKD):c.67+3A>G	LOC129935594, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2200189	NM_015488.5(PNKD):c.67+12G>A	LOC129935594, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1606419	NM_015488.5(PNKD):c.67+15C>A	LOC129935594, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2200144	NM_015488.5(PNKD):c.67+16C>G	LOC129935594, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1611931	NM_015488.5(PNKD):c.67+19G>C	LOC129935594, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
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 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)	not specified +1 more	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)	not provided +1 more	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

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