PKP4[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 1290244	NM_003628.6(PKP4):c.-5-301C>T	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3223497	NM_003628.6(PKP4):c.20C>A (p.Ala7Asp)	PKP4 (A7D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563012	NM_003628.6(PKP4):c.24A>G (p.Ser8=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1793660	NM_003628.6(PKP4):c.25T>C (p.Leu9=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3214033	NM_003628.6(PKP4):c.37G>A (p.Gly13Arg)	PKP4 (G13R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1747300	NM_003628.6(PKP4):c.53G>T (p.Arg18Leu)	PKP4 (R18L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1749142	NM_003628.6(PKP4):c.56A>G (p.Gln19Arg)	PKP4 (Q19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1754970	NM_003628.6(PKP4):c.66C>G (p.Ala22=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1230040	NM_003628.6(PKP4):c.66C>T (p.Ala22=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2563016	NM_003628.6(PKP4):c.71C>G (p.Thr24Ser)	PKP4 (T24S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561558	NM_003628.6(PKP4):c.82A>C (p.Met28Leu)	PKP4 (M28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1765790	NM_003628.6(PKP4):c.90C>T (p.Pro30=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3214036	NM_003628.6(PKP4):c.91G>A (p.Glu31Lys)	PKP4 (E31K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1766842	NM_003628.6(PKP4):c.93G>C (p.Glu31Asp)	PKP4 (E31D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1769611	NM_003628.6(PKP4):c.130C>A (p.Gln44Lys)	PKP4 (Q44K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1296431	NM_003628.6(PKP4):c.133-115A>G	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2533030	NM_003628.6(PKP4):c.136C>T (p.Leu46Phe)	PKP4 (L46F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1775885	NM_003628.6(PKP4):c.158G>A (p.Arg53Gln)	PKP4 (R53Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2448038	NM_003628.6(PKP4):c.177G>A (p.Arg59=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1783919	NM_003628.6(PKP4):c.198A>G (p.Leu66=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1784721	NM_003628.6(PKP4):c.202A>G (p.Arg68Gly)	PKP4 (R68G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2625288	NM_003628.6(PKP4):c.204A>G (p.Arg68=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1785547	NM_003628.6(PKP4):c.207T>C (p.Cys69=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1787894	NM_003628.6(PKP4):c.221A>G (p.Glu74Gly)	PKP4 (E74G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561554	NM_003628.6(PKP4):c.226C>T (p.Pro76Ser)	PKP4 (P76S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1790411	NM_003628.6(PKP4):c.237C>G (p.Ala79=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2488913	NM_003628.6(PKP4):c.265C>T (p.Pro89Ser)	PKP4 (P89S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1242097	NM_003628.6(PKP4):c.280+189T>G	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282918	NM_003628.6(PKP4):c.280+247A>G	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2607871	NM_003628.6(PKP4):c.282C>T (p.Asp94=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3223515	NM_003628.6(PKP4):c.283G>A (p.Val95Met)	PKP4 (V95M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1727848	NM_003628.6(PKP4):c.311G>C (p.Arg104Thr)	PKP4 (R104T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1729048	NM_003628.6(PKP4):c.321C>T (p.Asp107=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1729172	NM_003628.6(PKP4):c.322G>A (p.Ala108Thr)	PKP4 (A108T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1730877	NM_003628.6(PKP4):c.338A>G (p.Asn113Ser)	PKP4 (N113S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1731240	NM_003628.6(PKP4):c.341A>G (p.Tyr114Cys)	PKP4 (Y114C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2448025	NM_003628.6(PKP4):c.351G>A (p.Arg117=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2448013	NM_003628.6(PKP4):c.370A>G (p.Thr124Ala)	PKP4 (T124A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1734457	NM_003628.6(PKP4):c.373C>G (p.Leu125Val)	PKP4 (L125V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223529	NM_003628.6(PKP4):c.384A>G (p.Pro128=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2448019	NM_003628.6(PKP4):c.401A>G (p.His134Arg)	PKP4 (H134R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781684	NM_003628.6(PKP4):c.412+1G>T	PKP4	Single nucleotide variant (splice donor variant +1 more)	not provided	GBenign
Select item 1741759	NM_003628.6(PKP4):c.459C>T (p.Ser153=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1741873	NM_003628.6(PKP4):c.460G>A (p.Asp154Asn)	PKP4 (D154N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240038	NM_003628.6(PKP4):c.462C>A (p.Asp154Glu)	PKP4 (D152E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618026	NM_003628.6(PKP4):c.476A>G (p.Glu159Gly)	PKP4 (E159G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1744749	NM_003628.6(PKP4):c.500A>G (p.Gln167Arg)	PKP4 (Q167R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1745002	NM_003628.6(PKP4):c.504C>T (p.Asn168=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1745091	NM_003628.6(PKP4):c.505G>A (p.Val169Met)	PKP4 (V169M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1745320	NM_003628.6(PKP4):c.509G>A (p.Ser170Asn)	PKP4 (S170N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223530	NM_003628.6(PKP4):c.543A>G (p.Ile181Met)	PKP4 (I179M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1748692	NM_003628.6(PKP4):c.561T>C (p.His187=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1748849	NM_003628.6(PKP4):c.564G>A (p.Val188=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2543679	NM_003628.6(PKP4):c.584A>C (p.Glu195Ala)	PKP4 (E193A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2448011	NM_003628.6(PKP4):c.587G>T (p.Gly196Val)	PKP4 (G196V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1296394	NM_003628.6(PKP4):c.604-187dup	PKP4	Duplication (intron variant)	not provided	GBenign
Select item 1753802	NM_003628.6(PKP4):c.648A>T (p.Pro216=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1755328	NM_003628.6(PKP4):c.676A>G (p.Ile226Val)	PKP4 (I224V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1755394	NM_003628.6(PKP4):c.677T>G (p.Ile226Ser)	PKP4 (I224S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1756718	NM_003628.6(PKP4):c.701G>T (p.Arg234Met)	PKP4 (R232M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1756934	NM_003628.6(PKP4):c.705G>A (p.Gly235=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1757222	NM_003628.6(PKP4):c.710T>C (p.Leu237Pro)	PKP4 (L237P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556969	NM_003628.6(PKP4):c.713G>A (p.Arg238Lys)	PKP4 (R238K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1757721	NM_003628.6(PKP4):c.720T>C (p.Ser240=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3223531	NM_003628.6(PKP4):c.739T>C (p.Ser247Pro)	PKP4 (S245P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214034	NM_003628.6(PKP4):c.743C>T (p.Pro248Leu)	PKP4 (P246L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1758967	NM_003628.6(PKP4):c.744G>A (p.Pro248=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1759422	NM_003628.6(PKP4):c.753C>T (p.Thr251=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2448022	NM_003628.6(PKP4):c.756C>T (p.Asp252=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1759555	NM_003628.6(PKP4):c.756C>A (p.Asp252Glu)	PKP4 (D252E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1759652	NM_003628.6(PKP4):c.758C>T (p.Pro253Leu)	PKP4 (P253L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1761808	NM_003628.6(PKP4):c.804T>C (p.Ala268=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2448035	NM_003628.6(PKP4):c.806C>T (p.Ala269Val)	PKP4 (A269V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1761861	NM_003628.6(PKP4):c.806C>A (p.Ala269Glu)	PKP4 (A267E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223533	NM_003628.6(PKP4):c.822G>A (p.Pro274=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3223534	NM_003628.6(PKP4):c.837C>T (p.Pro279=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1763185	NM_003628.6(PKP4):c.838G>A (p.Ala280Thr)	PKP4 (A278T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2625290	NM_003628.6(PKP4):c.856C>T (p.Arg286Trp)	PKP4 (R284W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214035	NM_003628.6(PKP4):c.857G>A (p.Arg286Gln)	PKP4 (R286Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1763946	NM_003628.6(PKP4):c.858G>A (p.Arg286=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2563004	NM_003628.6(PKP4):c.875C>T (p.Thr292Ile)	PKP4 (T290I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243226	NM_003628.6(PKP4):c.880C>T (p.Arg294Trp)	PKP4 (R294W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223535	NM_003628.6(PKP4):c.885G>A (p.Gln295=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1766411	NM_003628.6(PKP4):c.927C>T (p.Thr309=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1766438	NM_003628.6(PKP4):c.928G>A (p.Ala310Thr)	PKP4 (A308T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2448037	NM_003628.6(PKP4):c.932G>A (p.Arg311Lys)	PKP4 (R309K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1766704	NM_003628.6(PKP4):c.936G>A (p.Val312=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1766797	NM_003628.6(PKP4):c.939G>T (p.Gly313=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2554005	NM_003628.6(PKP4):c.943C>G (p.Pro315Ala)	PKP4 (P313A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1767007	NM_003628.6(PKP4):c.945A>G (p.Pro315=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2561550	NM_003628.6(PKP4):c.951C>G (p.Thr317=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1767443	NM_003628.6(PKP4):c.957G>A (p.Thr319=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2620890	NM_003628.6(PKP4):c.970C>G (p.Arg324Gly)	PKP4 (R322G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1767995	NM_003628.6(PKP4):c.972A>G (p.Arg324=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign

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