"Ambry Genetics"[submitter] AND "PNKD"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 569744	NM_015488.5(PNKD):c.83C>G (p.Ala28Gly)	PNKD (A28G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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 2468997	NM_022152.6(TMBIM1):c.877T>C (p.Tyr293His)	PNKD, TMBIM1 (Y182H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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 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 2245092	NM_022152.6(TMBIM1):c.592A>G (p.Thr198Ala)	PNKD, TMBIM1 (T198A +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 2623739	NM_022152.6(TMBIM1):c.436G>T (p.Val146Phe)	PNKD, TMBIM1 (V35F +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 2589838	NM_022152.6(TMBIM1):c.355A>G (p.Ile119Val)	PNKD, TMBIM1 (I119V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2226316	NM_022152.6(TMBIM1):c.275G>A (p.Arg92Gln)	PNKD, TMBIM1 (G3R +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 2286049	NM_022152.6(TMBIM1):c.218A>G (p.Tyr73Cys)	PNKD, TMBIM1 (Y73C)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2617031	NM_022152.6(TMBIM1):c.110C>G (p.Pro37Arg)	PNKD, TMBIM1 (P37R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2270716	NM_022152.6(TMBIM1):c.38G>A (p.Arg13His)	PNKD, TMBIM1 (R13H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 968369	NM_015488.5(PNKD):c.243C>G (p.Ser81Arg)	CATIP-AS2, PNKD (S57R +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 2263834	NM_015488.5(PNKD):c.269A>G (p.Tyr90Cys)	CATIP-AS2, PNKD (Y90C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 649687	NM_015488.5(PNKD):c.281G>A (p.Arg94Gln)	CATIP-AS2, PNKD (R94Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2308127	NM_015488.5(PNKD):c.469T>A (p.Ser157Thr)	CATIP-AS2, PNKD (S157T +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 1058555	NM_015488.5(PNKD):c.568G>A (p.Asp190Asn)	CATIP-AS2, PNKD (D166N +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
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 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 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 1374209	NM_015488.5(PNKD):c.652C>T (p.Arg218Trp)	PNKD, CATIP-AS2 (R194W +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 2540347	NM_015488.5(PNKD):c.718G>A (p.Gly240Arg)	CATIP-AS2, PNKD (G216R +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	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 577501	NM_015488.5(PNKD):c.839G>T (p.Gly280Val)	CATIP-AS2, PNKD (G280V +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 2614693	NM_015488.5(PNKD):c.852C>A (p.Asp284Glu)	CATIP-AS2, PNKD (D284E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 241062	NM_015488.5(PNKD):c.973C>T (p.Arg325Cys)	CATIP-AS2, PNKD (R325C +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 468622	NM_015488.5(PNKD):c.1067C>T (p.Pro356Leu)	CATIP-AS2, PNKD (P356L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1500864	NM_015488.5(PNKD):c.1073C>T (p.Pro358Leu)	CATIP-AS2, PNKD (P358L +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 572971	NM_015488.5(PNKD):c.1094A>T (p.Asp365Val)	CATIP-AS2, PNKD (D365V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 468623	NM_015488.5(PNKD):c.1102C>G (p.Arg368Gly)	CATIP-AS2, PNKD (R368G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 43