ClinVar for Gene (Select 25953) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349158	NM_015488.5(PNKD):c.463C>T (p.Gln155Ter)	CATIP-AS2, PNKD (Q131* +1 more)	Single nucleotide variant (nonsense)	PNKD-related disorder	GUncertain significance
Select item 3326498	NM_022152.6(TMBIM1):c.826C>T (p.Arg276Trp)	PNKD, TMBIM1 (R165W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3326497	NM_022152.6(TMBIM1):c.925G>A (p.Asp309Asn)	PNKD, TMBIM1 (D198N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3308127	NM_015488.5(PNKD):c.590C>G (p.Pro197Arg)	CATIP-AS2, PNKD (P173R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257089	NM_015488.5(PNKD):c.1071G>C (p.Gly357=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257088	NM_015488.5(PNKD):c.1074G>C (p.Pro358=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3247330	NC_000002.11:g.(?_219136268)_(219139498_?)del	PNKD, TMBIM1	Deletion	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
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 3215896	NM_015488.5(PNKD):c.779G>C (p.Cys260Ser)	CATIP-AS2, PNKD (C260S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215895	NM_015488.5(PNKD):c.586A>G (p.Ser196Gly)	CATIP-AS2, PNKD (S172G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215894	NM_015488.5(PNKD):c.566G>C (p.Arg189Pro)	CATIP-AS2, PNKD (R165P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178192	NM_022152.6(TMBIM1):c.757T>C (p.Tyr253His)	PNKD, TMBIM1 (Y142H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178191	NM_022152.6(TMBIM1):c.753G>A (p.Met251Ile)	PNKD, TMBIM1 (M251I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178190	NM_022152.6(TMBIM1):c.633G>C (p.Gln211His)	PNKD, TMBIM1 (Q100H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178189	NM_022152.6(TMBIM1):c.579T>G (p.Ile193Met)	PNKD, TMBIM1 (I193M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178188	NM_022152.6(TMBIM1):c.515C>G (p.Thr172Ser)	PNKD, TMBIM1 (T172S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178187	NM_022152.6(TMBIM1):c.415G>A (p.Val139Met)	PNKD, TMBIM1 (V28M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178186	NM_022152.6(TMBIM1):c.382G>A (p.Ala128Thr)	PNKD, TMBIM1 (A17T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178185	NM_022152.6(TMBIM1):c.239T>C (p.Val80Ala)	PNKD, TMBIM1 (V80A)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
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 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 3046050	NM_015488.5(PNKD):c.237-16375C>A	PNKD (S47R)	Single nucleotide variant (missense variant +1 more)	PNKD-related disorder	GBenign
Select item 3027210	NM_015488.5(PNKD):c.252_253dup (p.Arg85fs)	CATIP-AS2, PNKD (R61fs +1 more)	Duplication (frameshift variant)	not provided	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 3019663	NM_015488.5(PNKD):c.453T>G (p.Pro151=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 3019369	NM_015488.5(PNKD):c.801T>G (p.Asn267Lys)	CATIP-AS2, PNKD (N267K +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 3015805	NM_015488.5(PNKD):c.958C>G (p.Arg320Gly)	CATIP-AS2, PNKD (R320G +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 3015021	NM_015488.5(PNKD):c.841C>A (p.Leu281Ile)	CATIP-AS2, PNKD (L281I +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 3014808	NM_015488.5(PNKD):c.408C>T (p.Ile136=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 3006089	NM_015488.5(PNKD):c.441C>G (p.Asp147Glu)	CATIP-AS2, PNKD (D147E +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 3002875	NM_015488.5(PNKD):c.436G>A (p.Val146Met)	CATIP-AS2, PNKD (V146M +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2998876	NM_015488.5(PNKD):c.257C>T (p.Thr86Ile)	CATIP-AS2, PNKD (T86I +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2994409	NM_015488.5(PNKD):c.471C>T (p.Ser157=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2993576	NM_015488.5(PNKD):c.910G>A (p.Val304Met)	CATIP-AS2, PNKD (V304M +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2986781	NM_015488.5(PNKD):c.465G>C (p.Gln155His)	CATIP-AS2, PNKD (Q155H +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2984973	NM_015488.5(PNKD):c.876G>T (p.Glu292Asp)	CATIP-AS2, PNKD (E292D +1 more)	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 2980720	NM_015488.5(PNKD):c.392A>G (p.Tyr131Cys)	CATIP-AS2, PNKD (Y131C +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2976733	NM_015488.5(PNKD):c.894G>A (p.Leu298=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2964238	NM_015488.5(PNKD):c.427G>T (p.Ala143Ser)	CATIP-AS2, PNKD (A143S +1 more)	Single nucleotide variant (missense 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 2958913	NM_015488.5(PNKD):c.524+17T>C	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2955978	NM_015488.5(PNKD):c.857T>C (p.Leu286Pro)	CATIP-AS2, PNKD (L262P +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	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 2913956	NM_015488.5(PNKD):c.545G>A (p.Arg182His)	CATIP-AS2, PNKD (R182H +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2911146	NM_015488.5(PNKD):c.1012T>C (p.Ser338Pro)	CATIP-AS2, PNKD (S314P +1 more)	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 2906483	NM_015488.5(PNKD):c.617+17G>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2904156	NM_015488.5(PNKD):c.533G>C (p.Ser178Thr)	CATIP-AS2, PNKD (S154T +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2903327	NM_015488.5(PNKD):c.1013_1015del (p.Ser338del)	CATIP-AS2, PNKD (S314del +1 more)	Deletion (inframe_deletion)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2901232	NM_015488.5(PNKD):c.466-15T>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2900316	NM_015488.5(PNKD):c.1152C>T (p.Ser384=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2898578	NM_015488.5(PNKD):c.696C>A (p.Gly232=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2893937	NM_015488.5(PNKD):c.1095C>T (p.Asp365=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2892688	NM_015488.5(PNKD):c.872A>C (p.His291Pro)	CATIP-AS2, PNKD (H267P +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2887269	NM_015488.5(PNKD):c.1040G>A (p.Cys347Tyr)	CATIP-AS2, PNKD (C347Y +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2886912	NM_015488.5(PNKD):c.906T>G (p.Gly302=)	PNKD, CATIP-AS2	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2883887	NM_015488.5(PNKD):c.524+11C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2877888	NM_015488.5(PNKD):c.905G>A (p.Gly302Asp)	CATIP-AS2, PNKD (G278D +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2869736	NM_015488.5(PNKD):c.855C>A (p.Thr285=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2867918	NM_015488.5(PNKD):c.237-14C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2865979	NM_015488.5(PNKD):c.1057G>T (p.Ala353Ser)	CATIP-AS2, PNKD (A329S +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2859051	NM_015488.5(PNKD):c.528C>A (p.Asp176Glu)	CATIP-AS2, PNKD (D152E +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2857470	NM_015488.5(PNKD):c.793G>A (p.Glu265Lys)	CATIP-AS2, PNKD (E265K +1 more)	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 2836178	NM_015488.5(PNKD):c.481G>A (p.Glu161Lys)	CATIP-AS2, PNKD (E137K +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2831719	NM_015488.5(PNKD):c.525-11C>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2825235	NM_015488.5(PNKD):c.599G>C (p.Gly200Ala)	CATIP-AS2, PNKD (G200A +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2823962	NM_015488.5(PNKD):c.738C>T (p.Pro246=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2820013	NM_015488.5(PNKD):c.949T>C (p.Trp317Arg)	CATIP-AS2, PNKD (W317R +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2818871	NM_015488.5(PNKD):c.962A>G (p.Gln321Arg)	CATIP-AS2, PNKD (Q297R +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2817644	NM_015488.5(PNKD):c.353-2A>G	CATIP-AS2, PNKD	Single nucleotide variant (splice acceptor variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2810856	NM_015488.5(PNKD):c.1052A>G (p.Gln351Arg)	CATIP-AS2, PNKD (Q327R +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2807696	NM_015488.5(PNKD):c.948G>A (p.Gln316=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2804690	NM_015488.5(PNKD):c.113C>T (p.Thr38Ile)	PNKD (T38I)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 2803485	NM_015488.5(PNKD):c.1079C>T (p.Pro360Leu)	CATIP-AS2, PNKD (P336L +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2799036	NM_015488.5(PNKD):c.550C>T (p.Leu184Phe)	CATIP-AS2, PNKD (L184F +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2797643	NM_015488.5(PNKD):c.292C>A (p.Arg98Ser)	CATIP-AS2, PNKD (R98S +1 more)	Single nucleotide variant (missense 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 2789509	NM_015488.5(PNKD):c.978G>A (p.Lys326=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2789101	NM_015488.5(PNKD):c.237-4C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron 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 2780830	NM_015488.5(PNKD):c.984+18C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2779026	NM_015488.5(PNKD):c.795G>T (p.Glu265Asp)	CATIP-AS2, PNKD (E241D +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2760168	NM_015488.5(PNKD):c.953T>G (p.Val318Gly)	CATIP-AS2, PNKD (V318G +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2752071	NM_015488.5(PNKD):c.466-9C>G	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2746458	NM_015488.5(PNKD):c.833_834del (p.Val278fs)	CATIP-AS2, PNKD (V278fs +1 more)	Microsatellite (frameshift variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
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 2742345	NM_015488.5(PNKD):c.984+14G>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2741171	NM_015488.5(PNKD):c.312_316del (p.Tyr104_Lys106delinsTer)	CATIP-AS2, PNKD	Deletion (nonsense)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2739434	NM_015488.5(PNKD):c.576G>A (p.Arg192=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
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 2731708	NM_015488.5(PNKD):c.1072C>T (p.Pro358Ser)	CATIP-AS2, PNKD (P334S +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2731442	NM_015488.5(PNKD):c.11T>C (p.Val4Ala)	LOC129935594, PNKD (V4A)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2731389	NM_015488.5(PNKD):c.699T>C (p.His233=)	CATIP-AS2, 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 2730009	NM_015488.5(PNKD):c.45G>A (p.Ala15=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2728938	NM_015488.5(PNKD):c.972G>A (p.Glu324=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2726553	NM_015488.5(PNKD):c.427G>C (p.Ala143Pro)	CATIP-AS2, PNKD (A143P +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance

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