PKP4-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 148746	GRCh38/hg38 2q24.1(chr2:158081288-158743457)x1	CCDC148, CCDC148-AS1 +15 more	Copy number loss	See cases	GUncertain significance
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 152747	GRCh38/hg38 2q24.1-24.2(chr2:158655460-159251819)x3	DAPL1, LOC110121120 +24 more	Copy number gain	See cases	GLikely benign
Select item 1246915	NM_003628.6(PKP4):c.2094-138T>G	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3223498	NM_003628.6(PKP4):c.2103C>T (p.Ser701=)	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1222374	NM_003628.6(PKP4):c.2106C>T (p.Ser702=)	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1786001	NM_003628.6(PKP4):c.2107G>A (p.Ala703Thr)	PKP4, PKP4-AS1 (A701T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1786122	NM_003628.6(PKP4):c.2111G>C (p.Gly704Ala)	PKP4-AS1, PKP4 (G703A +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2563013	NM_003628.6(PKP4):c.2115A>T (p.Glu705Asp)	PKP4, PKP4-AS1 (E702D +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3307117	NM_003628.6(PKP4):c.2123G>A (p.Arg708Gln)	PKP4, PKP4-AS1 (R365Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1786291	NM_003628.6(PKP4):c.2124G>A (p.Arg708=)	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1786344	NM_003628.6(PKP4):c.2128C>A (p.Gln710Lys)	PKP4, PKP4-AS1 (Q708K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2561555	NM_003628.6(PKP4):c.2129A>G (p.Gln710Arg)	PKP4, PKP4-AS1 (Q367R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1786512	NM_003628.6(PKP4):c.2139C>A (p.Ser713=)	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1786602	NM_003628.6(PKP4):c.2142C>T (p.Cys714=)	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1786621	NM_003628.6(PKP4):c.2143G>A (p.Glu715Lys)	PKP4, PKP4-AS1 (E713K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2448034	NM_003628.6(PKP4):c.2148G>T (p.Gly716=)	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1786777	NM_003628.6(PKP4):c.2152G>A (p.Val718Ile)	PKP4, PKP4-AS1 (V715I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3223499	NM_003628.6(PKP4):c.2163G>A (p.Leu721=)	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1787038	NM_003628.6(PKP4):c.2169T>C (p.Tyr723=)	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 786811	NM_003628.6(PKP4):c.2175C>T (p.Ile725=)	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2489013	NM_003628.6(PKP4):c.2180C>T (p.Thr727Met)	PKP4, PKP4-AS1 (T384M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3223501	NM_003628.6(PKP4):c.2181G>A (p.Thr727=)	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3223502	NM_003628.6(PKP4):c.2190C>T (p.Asn730=)	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1787484	NM_003628.6(PKP4):c.2196C>T (p.Ser732=)	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3214027	NM_003628.6(PKP4):c.2197G>A (p.Asp733Asn)	PKP4, PKP4-AS1 (D390N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1787652	NM_003628.6(PKP4):c.2202C>T (p.Tyr734=)	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1787665	NM_003628.6(PKP4):c.2203G>A (p.Asp735Asn)	PKP4, PKP4-AS1 (D392N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1296387	NM_003628.6(PKP4):c.2212-41G>A	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1787794	NM_003628.6(PKP4):c.2213C>T (p.Thr738Met)	PKP4, PKP4-AS1 (T737M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1787997	NM_003628.6(PKP4):c.2226C>T (p.Cys742=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2489832	NM_003628.6(PKP4):c.2232C>T (p.Cys744=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448014	NM_003628.6(PKP4):c.2236C>T (p.Leu746=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2246347	NM_003628.6(PKP4):c.2252A>G (p.Tyr751Cys)	PKP4, PKP4-AS1 (Y751C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2625292	NM_003628.6(PKP4):c.2254C>T (p.Arg752Trp)	PKP4, PKP4-AS1 (R751W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1788509	NM_003628.6(PKP4):c.2255G>A (p.Arg752Gln)	PKP4, PKP4-AS1 (R752Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223503	NM_003628.6(PKP4):c.2263C>G (p.Leu755Val)	PKP4, PKP4-AS1 (L412V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2625287	NM_003628.6(PKP4):c.2268G>A (p.Glu756=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1788739	NM_003628.6(PKP4):c.2269G>T (p.Val757Leu)	PKP4, PKP4-AS1 (V756L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1788893	NM_003628.6(PKP4):c.2279C>T (p.Ala760Val)	PKP4, PKP4-AS1 (A759V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307145	NM_003628.6(PKP4):c.2282G>A (p.Arg761Gln)	PKP4, PKP4-AS1 (R418Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1789025	NM_003628.6(PKP4):c.2287C>T (p.Leu763=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2561560	NM_003628.6(PKP4):c.2291G>C (p.Gly764Ala)	PKP4, PKP4-AS1 (G762A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214028	NM_003628.6(PKP4):c.2298C>A (p.Asn766Lys)	PKP4, PKP4-AS1 (N764K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1789195	NM_003628.6(PKP4):c.2298C>T (p.Asn766=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1789210	NM_003628.6(PKP4):c.2299G>A (p.Glu767Lys)	PKP4, PKP4-AS1 (E767K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1789516	NM_003628.6(PKP4):c.2318G>A (p.Gly773Glu)	PKP4, PKP4-AS1 (G772E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1789588	NM_003628.6(PKP4):c.2322A>G (p.Lys774=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1789609	NM_003628.6(PKP4):c.2323G>A (p.Glu775Lys)	PKP4, PKP4-AS1 (E774K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607771	NM_003628.6(PKP4):c.2328T>C (p.Ser776=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3307125	NM_003628.6(PKP4):c.2338G>A (p.Asp780Asn)	PKP4, PKP4-AS1 (D777N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1789886	NM_003628.6(PKP4):c.2342C>G (p.Ser781Cys)	PKP4, PKP4-AS1 (S438C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448017	NM_003628.6(PKP4):c.2361G>A (p.Gly787=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3214029	NM_003628.6(PKP4):c.2375A>C (p.Lys792Thr)	PKP4, PKP4-AS1 (K790T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214030	NM_003628.6(PKP4):c.2376G>C (p.Lys792Asn)	PKP4, PKP4-AS1 (K791N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1790386	NM_003628.6(PKP4):c.2378A>G (p.Lys793Arg)	PKP4, PKP4-AS1 (K450R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223504	NM_003628.6(PKP4):c.2390C>T (p.Pro797Leu)	PKP4, PKP4-AS1 (P454L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1790567	NM_003628.6(PKP4):c.2391G>T (p.Pro797=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1790565	NM_003628.6(PKP4):c.2391G>A (p.Pro797=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1790971	NM_003628.6(PKP4):c.2418T>A (p.Gly806=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1790978	NM_003628.6(PKP4):c.2419C>T (p.Pro807Ser)	PKP4, PKP4-AS1 (P805S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1791056	NM_003628.6(PKP4):c.2424C>G (p.Ile808Met)	PKP4, PKP4-AS1 (I807M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1791183	NM_003628.6(PKP4):c.2432T>A (p.Leu811Gln)	PKP4, PKP4-AS1 (L810Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307124	NM_003628.6(PKP4):c.2435C>T (p.Ser812Leu)	PKP4, PKP4-AS1 (S811L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489940	NM_003628.6(PKP4):c.2437A>C (p.Lys813Gln)	PKP4, PKP4-AS1 (K810Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1791407	NM_003628.6(PKP4):c.2447A>T (p.Lys816Ile)	PKP4, PKP4-AS1 (K815I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1791403	NM_003628.6(PKP4):c.2447A>G (p.Lys816Arg)	PKP4, PKP4-AS1 (K814R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448032	NM_003628.6(PKP4):c.2454T>G (p.Val818=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2561561	NM_003628.6(PKP4):c.2458A>G (p.Met820Val)	PKP4, PKP4-AS1 (M819V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1791692	NM_003628.6(PKP4):c.2466G>T (p.Trp822Cys)	PKP4, PKP4-AS1 (W479C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560401	NM_003628.6(PKP4):c.2472A>T (p.Pro824=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1791833	NM_003628.6(PKP4):c.2475G>A (p.Ser825=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3223505	NM_003628.6(PKP4):c.2478G>A (p.Val826=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3223506	NM_003628.6(PKP4):c.2479G>A (p.Val827Ile)	PKP4, PKP4-AS1 (V484I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561551	NM_003628.6(PKP4):c.2484A>G (p.Lys828=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1791995	NM_003628.6(PKP4):c.2487A>G (p.Pro829=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1792107	NM_003628.6(PKP4):c.2493G>T (p.Leu831=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2560403	NM_003628.6(PKP4):c.2514C>T (p.Ser838=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1792532	NM_003628.6(PKP4):c.2520A>C (p.Pro840=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3223507	NM_003628.6(PKP4):c.2522C>T (p.Ala841Val)	PKP4, PKP4-AS1 (A498V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2625289	NM_003628.6(PKP4):c.2524A>T (p.Thr842Ser)	PKP4, PKP4-AS1 (T841S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561552	NM_003628.6(PKP4):c.2525C>T (p.Thr842Ile)	PKP4, PKP4-AS1 (T499I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279407	NM_003628.6(PKP4):c.2527T>G (p.Leu843Val)	PKP4, PKP4-AS1 (L842V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223508	NM_003628.6(PKP4):c.2534G>C (p.Gly845Ala)	PKP4, PKP4-AS1 (G502A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1792754	NM_003628.6(PKP4):c.2535C>T (p.Gly845=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2489308	NM_003628.6(PKP4):c.2550C>T (p.Leu850=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2625283	NM_003628.6(PKP4):c.2552A>G (p.Gln851Arg)	PKP4, PKP4-AS1 (Q850R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307139	NM_003628.6(PKP4):c.2556C>T (p.Asn852=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1238849	NM_003628.6(PKP4):c.2577+128G>C	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224158	NM_003628.6(PKP4):c.2578-46C>G	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3307131	NM_003628.6(PKP4):c.2580T>G (p.Phe860Leu)	PKP4, PKP4-AS1 (F858L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1793413	NM_003628.6(PKP4):c.2584G>A (p.Ala862Thr)	PKP4, PKP4-AS1 (A519T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1793556	NM_003628.6(PKP4):c.2594G>A (p.Arg865Gln)	PKP4, PKP4-AS1 (R522Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223509	NM_003628.6(PKP4):c.2601C>T (p.Ala867=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448018	NM_003628.6(PKP4):c.2601C>G (p.Ala867=)	PKP4, PKP4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1793695	NM_003628.6(PKP4):c.2602G>A (p.Val868Ile)	PKP4, PKP4-AS1 (V525I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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