ClinVar for Gene (Select 11187) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307115	NM_007183.4(PKP3):c.1150G>A (p.Ala384Thr)	PKP3 (A384T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307114	NM_007183.4(PKP3):c.296G>C (p.Ser99Thr)	PKP3 (S99T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307113	NM_007183.4(PKP3):c.1892C>T (p.Ala631Val)	PKP3 (A631V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307112	NM_007183.4(PKP3):c.424G>A (p.Ala142Thr)	PKP3 (A142T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307111	NM_007183.4(PKP3):c.2020T>C (p.Ser674Pro)	PKP3 (S689P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307110	NM_007183.4(PKP3):c.1681G>T (p.Ala561Ser)	PKP3 (A561S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307109	NM_007183.4(PKP3):c.1384C>G (p.Pro462Ala)	PKP3 (P477A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307108	NM_007183.4(PKP3):c.1077C>G (p.Ser359Arg)	PKP3 (S359R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307107	NM_007183.4(PKP3):c.847A>G (p.Ser283Gly)	PKP3 (S298G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244777	NC_000011.9:g.(?_216698)_(679836_?)del	ANO9, B4GALNT4 +25 more	Deletion	not provided	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3214021	NM_007183.4(PKP3):c.970G>A (p.Ala324Thr)	PKP3 (A339T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214019	NM_007183.4(PKP3):c.787G>A (p.Val263Ile)	PKP3 (V263I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214018	NM_007183.4(PKP3):c.782G>A (p.Arg261His)	PKP3 (R261H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214017	NM_007183.4(PKP3):c.721C>T (p.Arg241Trp)	PKP3 (R241W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214016	NM_007183.4(PKP3):c.62C>T (p.Ala21Val)	PKP3 (A21V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214015	NM_007183.4(PKP3):c.580C>T (p.Arg194Cys)	PKP3 (R209C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214014	NM_007183.4(PKP3):c.577G>A (p.Asp193Asn)	PKP3 (D208N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214013	NM_007183.4(PKP3):c.541C>A (p.Leu181Met)	PKP3 (L181M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214012	NM_007183.4(PKP3):c.311C>T (p.Ser104Leu)	PKP3 (S104L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214011	NM_007183.4(PKP3):c.2204C>T (p.Ala735Val)	PKP3 (A750V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214010	NM_007183.4(PKP3):c.2203G>A (p.Ala735Thr)	PKP3 (A735T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214009	NM_007183.4(PKP3):c.1928C>T (p.Ala643Val)	PKP3 (A658V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214008	NM_007183.4(PKP3):c.1849C>T (p.Arg617Cys)	PKP3 (R632C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214007	NM_007183.4(PKP3):c.1837C>T (p.Arg613Trp)	PKP3 (R613W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214006	NM_007183.4(PKP3):c.1735G>C (p.Glu579Gln)	PKP3 (E579Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214005	NM_007183.4(PKP3):c.1727G>T (p.Arg576Leu)	PKP3 (R591L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214004	NM_007183.4(PKP3):c.1609C>A (p.Arg537Ser)	PKP3 (R552S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214003	NM_007183.4(PKP3):c.154G>A (p.Ala52Thr)	PKP3 (A67T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214002	NM_007183.4(PKP3):c.1547C>G (p.Ala516Gly)	PKP3 (A516G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214001	NM_007183.4(PKP3):c.1327G>A (p.Asp443Asn)	PKP3 (D458N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214000	NM_007183.4(PKP3):c.131C>T (p.Ala44Val)	PKP3 (A44V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213998	NM_007183.4(PKP3):c.1090C>T (p.Pro364Ser)	PKP3 (P379S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063193	GRCh37/hg19 11p15.5(chr11:372929-762338)x3	HRAS, IRF7 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	ANO9, B4GALNT4 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 2921046	NM_007183.4(PKP3):c.569G>A (p.Gly190Asp)	PKP3 (G190D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2641047	NM_007183.4(PKP3):c.1758G>T (p.Ala586=)	PKP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641046	NM_007183.4(PKP3):c.1431C>G (p.Asn477Lys)	PKP3 (N477K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2641045	NM_007183.4(PKP3):c.642G>A (p.Ala214=)	PKP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641044	NM_007183.4(PKP3):c.553C>T (p.Arg185Trp)	PKP3 (R185W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2641043	NM_001303029.2(PKP3):c.75G>A (p.Thr25=)	PKP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617769	NM_007183.4(PKP3):c.1933G>A (p.Val645Met)	PKP3 (V645M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612060	NM_007183.4(PKP3):c.1007A>G (p.Gln336Arg)	PKP3 (Q336R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609943	NM_007183.4(PKP3):c.446G>C (p.Gly149Ala)	PKP3 (G149A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602507	NM_007183.4(PKP3):c.1915G>A (p.Asp639Asn)	PKP3 (D639N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601051	NM_007183.4(PKP3):c.97G>A (p.Ala33Thr)	PKP3 (A48T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599304	NM_007183.4(PKP3):c.1238G>A (p.Arg413Gln)	PKP3 (R428Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598124	NM_007183.4(PKP3):c.2122G>A (p.Val708Met)	PKP3 (V708M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591591	NM_007183.4(PKP3):c.1259G>A (p.Arg420His)	PKP3 (R435H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591136	NM_007183.4(PKP3):c.943G>A (p.Gly315Ser)	PKP3 (G315S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574690	GRCh37/hg19 11p15.5(chr11:268586-748873)	CDHR5, MIR210HG +26 more	Copy number loss	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	GPathogenic
Select item 2561028	NM_007183.4(PKP3):c.545G>A (p.Arg182His)	PKP3 (R197H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560823	NM_007183.4(PKP3):c.2263C>T (p.Arg755Trp)	PKP3 (R755W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553437	NM_007183.4(PKP3):c.731G>A (p.Arg244His)	PKP3 (R244H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551697	NM_007183.4(PKP3):c.998C>G (p.Pro333Arg)	PKP3 (P333R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550199	NM_007183.4(PKP3):c.322C>G (p.Pro108Ala)	PKP3 (P123A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546443	NM_007183.4(PKP3):c.554G>T (p.Arg185Leu)	PKP3 (R185L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543115	NM_007183.4(PKP3):c.320G>A (p.Arg107Gln)	PKP3 (R122Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540097	NM_007183.4(PKP3):c.697G>A (p.Glu233Lys)	PKP3 (E233K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539982	NM_007183.4(PKP3):c.2368C>G (p.Arg790Gly)	PKP3 (R790G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516209	NM_007183.4(PKP3):c.1570G>T (p.Val524Leu)	PKP3 (V539L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512277	NM_007183.4(PKP3):c.1747G>A (p.Ala583Thr)	PKP3 (A583T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509097	NM_007183.4(PKP3):c.2210G>A (p.Arg737Gln)	PKP3 (R737Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508807	NM_007183.4(PKP3):c.518G>A (p.Arg173Gln)	PKP3 (R173Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2493334	NM_007183.4(PKP3):c.1817A>T (p.Gln606Leu)	PKP3 (Q606L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473171	NM_007183.4(PKP3):c.373G>A (p.Val125Met)	PKP3 (V140M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472297	NM_007183.4(PKP3):c.1156C>T (p.Arg386Cys)	PKP3 (R401C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465969	NM_007183.4(PKP3):c.910G>C (p.Gly304Arg)	PKP3 (G304R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463244	NM_007183.4(PKP3):c.370G>T (p.Ala124Ser)	PKP3 (A139S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462380	NM_007183.4(PKP3):c.185G>A (p.Arg62Gln)	PKP3 (R77Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411576	NM_007183.4(PKP3):c.1045A>C (p.Ser349Arg)	PKP3 (S349R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411475	NM_007183.4(PKP3):c.481C>T (p.Pro161Ser)	PKP3 (P161S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402855	NM_007183.4(PKP3):c.365G>A (p.Arg122His)	PKP3 (R122H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400294	NM_007183.4(PKP3):c.2189T>C (p.Val730Ala)	PKP3 (V745A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397354	NM_007183.4(PKP3):c.1850G>A (p.Arg617His)	PKP3 (R617H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396352	NM_007183.4(PKP3):c.811G>A (p.Val271Ile)	PKP3 (V271I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392792	NM_007183.4(PKP3):c.29C>T (p.Ala10Val)	PKP3 (A10V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2391400	NM_007183.4(PKP3):c.836C>T (p.Pro279Leu)	PKP3 (P279L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390659	NM_007183.4(PKP3):c.2135C>T (p.Ser712Leu)	PKP3 (S727L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385735	NM_007183.4(PKP3):c.231A>C (p.Arg77Ser)	PKP3 (R77S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383749	NM_007183.4(PKP3):c.2002G>A (p.Asp668Asn)	PKP3 (D683N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378597	NM_007183.4(PKP3):c.872C>T (p.Ser291Leu)	PKP3 (S291L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377688	NM_007183.4(PKP3):c.392G>A (p.Arg131Gln)	PKP3 (R131Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376005	NM_007183.4(PKP3):c.95G>A (p.Gly32Asp)	PKP3 (G47D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369069	NM_007183.4(PKP3):c.484G>A (p.Val162Met)	PKP3 (V162M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355685	NM_007183.4(PKP3):c.199G>A (p.Ala67Thr)	PKP3 (A82T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349893	NM_007183.4(PKP3):c.1382G>A (p.Gly461Asp)	PKP3 (G461D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348146	NM_007183.4(PKP3):c.1757C>T (p.Ala586Val)	PKP3 (A601V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342878	NM_007183.4(PKP3):c.1048G>T (p.Asp350Tyr)	PKP3 (D350Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341729	NM_007183.4(PKP3):c.299G>A (p.Gly100Glu)	PKP3 (G100E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316686	NM_007183.4(PKP3):c.1249G>T (p.Asp417Tyr)	PKP3 (D417Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301880	NM_007183.4(PKP3):c.1157G>A (p.Arg386His)	PKP3 (R386H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296792	NM_007183.4(PKP3):c.727A>T (p.Ile243Phe)	PKP3 (I243F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291300	NM_007183.4(PKP3):c.1942C>T (p.Arg648Cys)	PKP3 (R663C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288586	NM_007183.4(PKP3):c.391C>T (p.Arg131Trp)	PKP3 (R146W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274226	NM_007183.4(PKP3):c.1001A>G (p.Asn334Ser)	PKP3 (N334S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270223	NM_007183.4(PKP3):c.1489C>T (p.Arg497Trp)	PKP3 (R497W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264994	NM_007183.4(PKP3):c.1138C>T (p.His380Tyr)	PKP3 (H395Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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