"Ambry Genetics"[submitter] AND "PKP3"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2242218	NM_007183.4(PKP3):c.7G>A (p.Asp3Asn)	PKP3 (D3N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392792	NM_007183.4(PKP3):c.29C>T (p.Ala10Val)	PKP3 (A10V)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2376005	NM_007183.4(PKP3):c.95G>A (p.Gly32Asp)	PKP3 (G47D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601051	NM_007183.4(PKP3):c.97G>A (p.Ala33Thr)	PKP3 (A48T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263698	NM_007183.4(PKP3):c.125G>A (p.Arg42Gln)	PKP3 (R42Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462380	NM_007183.4(PKP3):c.185G>A (p.Arg62Gln)	PKP3 (R77Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225700	NM_007183.4(PKP3):c.193G>A (p.Gly65Arg)	PKP3 (G65R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355685	NM_007183.4(PKP3):c.199G>A (p.Ala67Thr)	PKP3 (A82T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385735	NM_007183.4(PKP3):c.231A>C (p.Arg77Ser)	PKP3 (R77S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341729	NM_007183.4(PKP3):c.299G>A (p.Gly100Glu)	PKP3 (G100E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543115	NM_007183.4(PKP3):c.320G>A (p.Arg107Gln)	PKP3 (R122Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550199	NM_007183.4(PKP3):c.322C>G (p.Pro108Ala)	PKP3 (P123A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402855	NM_007183.4(PKP3):c.365G>A (p.Arg122His)	PKP3 (R122H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463244	NM_007183.4(PKP3):c.370G>T (p.Ala124Ser)	PKP3 (A139S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473171	NM_007183.4(PKP3):c.373G>A (p.Val125Met)	PKP3 (V140M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288586	NM_007183.4(PKP3):c.391C>T (p.Arg131Trp)	PKP3 (R146W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377688	NM_007183.4(PKP3):c.392G>A (p.Arg131Gln)	PKP3 (R131Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217283	NM_007183.4(PKP3):c.445G>C (p.Gly149Arg)	PKP3 (G164R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609943	NM_007183.4(PKP3):c.446G>C (p.Gly149Ala)	PKP3 (G149A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411475	NM_007183.4(PKP3):c.481C>T (p.Pro161Ser)	PKP3 (P161S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369069	NM_007183.4(PKP3):c.484G>A (p.Val162Met)	PKP3 (V162M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508807	NM_007183.4(PKP3):c.518G>A (p.Arg173Gln)	PKP3 (R173Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561028	NM_007183.4(PKP3):c.545G>A (p.Arg182His)	PKP3 (R197H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546443	NM_007183.4(PKP3):c.554G>T (p.Arg185Leu)	PKP3 (R185L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206482	NM_007183.4(PKP3):c.646G>A (p.Glu216Lys)	PKP3 (E216K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540097	NM_007183.4(PKP3):c.697G>A (p.Glu233Lys)	PKP3 (E233K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296792	NM_007183.4(PKP3):c.727A>T (p.Ile243Phe)	PKP3 (I243F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553437	NM_007183.4(PKP3):c.731G>A (p.Arg244His)	PKP3 (R244H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396352	NM_007183.4(PKP3):c.811G>A (p.Val271Ile)	PKP3 (V271I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2391400	NM_007183.4(PKP3):c.836C>T (p.Pro279Leu)	PKP3 (P279L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378597	NM_007183.4(PKP3):c.872C>T (p.Ser291Leu)	PKP3 (S291L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465969	NM_007183.4(PKP3):c.910G>C (p.Gly304Arg)	PKP3 (G304R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591136	NM_007183.4(PKP3):c.943G>A (p.Gly315Ser)	PKP3 (G315S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258761	NM_007183.4(PKP3):c.974T>C (p.Val325Ala)	PKP3 (V340A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551697	NM_007183.4(PKP3):c.998C>G (p.Pro333Arg)	PKP3 (P333R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274226	NM_007183.4(PKP3):c.1001A>G (p.Asn334Ser)	PKP3 (N334S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612060	NM_007183.4(PKP3):c.1007A>G (p.Gln336Arg)	PKP3 (Q336R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411576	NM_007183.4(PKP3):c.1045A>C (p.Ser349Arg)	PKP3 (S349R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342878	NM_007183.4(PKP3):c.1048G>T (p.Asp350Tyr)	PKP3 (D350Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264994	NM_007183.4(PKP3):c.1138C>T (p.His380Tyr)	PKP3 (H395Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472297	NM_007183.4(PKP3):c.1156C>T (p.Arg386Cys)	PKP3 (R401C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301880	NM_007183.4(PKP3):c.1157G>A (p.Arg386His)	PKP3 (R386H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599304	NM_007183.4(PKP3):c.1238G>A (p.Arg413Gln)	PKP3 (R428Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316686	NM_007183.4(PKP3):c.1249G>T (p.Asp417Tyr)	PKP3 (D417Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591591	NM_007183.4(PKP3):c.1259G>A (p.Arg420His)	PKP3 (R435H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349893	NM_007183.4(PKP3):c.1382G>A (p.Gly461Asp)	PKP3 (G461D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270223	NM_007183.4(PKP3):c.1489C>T (p.Arg497Trp)	PKP3 (R497W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516209	NM_007183.4(PKP3):c.1570G>T (p.Val524Leu)	PKP3 (V539L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239856	NM_007183.4(PKP3):c.1625T>C (p.Met542Thr)	PKP3 (M542T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255297	NM_007183.4(PKP3):c.1661G>A (p.Gly554Asp)	PKP3 (G554D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512277	NM_007183.4(PKP3):c.1747G>A (p.Ala583Thr)	PKP3 (A583T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2348146	NM_007183.4(PKP3):c.1757C>T (p.Ala586Val)	PKP3 (A601V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493334	NM_007183.4(PKP3):c.1817A>T (p.Gln606Leu)	PKP3 (Q606L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397354	NM_007183.4(PKP3):c.1850G>A (p.Arg617His)	PKP3 (R617H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258116	NM_007183.4(PKP3):c.1874C>T (p.Thr625Met)	PKP3 (T625M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602507	NM_007183.4(PKP3):c.1915G>A (p.Asp639Asn)	PKP3 (D639N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617769	NM_007183.4(PKP3):c.1933G>A (p.Val645Met)	PKP3 (V645M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291300	NM_007183.4(PKP3):c.1942C>T (p.Arg648Cys)	PKP3 (R663C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243847	NM_007183.4(PKP3):c.1964G>C (p.Arg655Pro)	PKP3 (R655P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383749	NM_007183.4(PKP3):c.2002G>A (p.Asp668Asn)	PKP3 (D683N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598124	NM_007183.4(PKP3):c.2122G>A (p.Val708Met)	PKP3 (V708M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390659	NM_007183.4(PKP3):c.2135C>T (p.Ser712Leu)	PKP3 (S727L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400294	NM_007183.4(PKP3):c.2189T>C (p.Val730Ala)	PKP3 (V745A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509097	NM_007183.4(PKP3):c.2210G>A (p.Arg737Gln)	PKP3 (R737Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560823	NM_007183.4(PKP3):c.2263C>T (p.Arg755Trp)	PKP3 (R755W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539982	NM_007183.4(PKP3):c.2368C>G (p.Arg790Gly)	PKP3 (R790G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 66