5333[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 665052	NC_000003.12:g.(?_37452365)_(38950372_?)del	CTDSPL, DLEC1 +51 more	Deletion	Brugada syndrome	GPathogenic
Select item 1275453	NM_006225.4(PLCD1):c.*234del	PLCD1	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3307328	NM_006225.4(PLCD1):c.2167T>G (p.Leu723Val)	PLCD1 (L723V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604853	NM_006225.4(PLCD1):c.2134A>C (p.Lys712Gln)	PLCD1 (K712Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356566	NM_006225.4(PLCD1):c.2128T>A (p.Ser710Thr)	PLCD1 (S710T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307325	NM_006225.4(PLCD1):c.2105T>C (p.Phe702Ser)	PLCD1 (F723S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378864	NM_006225.4(PLCD1):c.2057C>T (p.Thr686Met)	PLCD1 (T707M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214427	NM_006225.4(PLCD1):c.2044C>T (p.Pro682Ser)	PLCD1 (P682S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525840	NM_006225.4(PLCD1):c.2013G>C (p.Gln671His)	PLCD1 (Q671H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352187	NM_006225.4(PLCD1):c.2009G>A (p.Arg670His)	PLCD1 (R670H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597529	NM_006225.4(PLCD1):c.2008C>T (p.Arg670Cys)	PLCD1 (R670C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214426	NM_006225.4(PLCD1):c.1990A>G (p.Ser664Gly)	PLCD1 (S685G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3307327	NM_006225.4(PLCD1):c.1987G>A (p.Val663Met)	PLCD1 (V663M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211847	NM_006225.4(PLCD1):c.1948T>G (p.Ser650Ala)	PLCD1 (S650A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589331	NM_006225.4(PLCD1):c.1940A>G (p.Asn647Ser)	PLCD1 (N647S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 762675	NM_006225.4(PLCD1):c.1914G>A (p.Gly638=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3307320	NM_006225.4(PLCD1):c.1896C>G (p.Asn632Lys)	PLCD1 (N632K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214425	NM_006225.4(PLCD1):c.1894A>C (p.Asn632His)	PLCD1 (N653H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214424	NM_006225.4(PLCD1):c.1889G>A (p.Arg630Gln)	PLCD1 (R651Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207452	NM_006225.4(PLCD1):c.1888C>T (p.Arg630Trp)	PLCD1 (R630W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214423	NM_006225.4(PLCD1):c.1879G>T (p.Ala627Ser)	PLCD1 (A627S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786003	NM_006225.4(PLCD1):c.1854C>T (p.Arg618=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2370884	NM_006225.4(PLCD1):c.1849C>T (p.Pro617Ser)	PLCD1 (P617S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1314291	NM_006225.4(PLCD1):c.1836C>A (p.Asn612Lys)	PLCD1 (N612K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2493953	NM_006225.4(PLCD1):c.1816G>A (p.Ala606Thr)	PLCD1 (A606T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293925	NM_006225.4(PLCD1):c.1789G>A (p.Gly597Arg)	PLCD1 (G597R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1074942	NM_006225.4(PLCD1):c.1738C>T (p.Gln580Ter)	PLCD1 (Q580* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 30240	NM_006225.4(PLCD1):c.1724-5_1728del	PLCD1	Deletion (splice acceptor variant)	Nonsyndromic congenital nail disorder 3	GPathogenic
Select item 733776	NM_006225.4(PLCD1):c.1724-5T>C	PLCD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244332	NM_006225.4(PLCD1):c.1724-32C>T	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291715	NM_006225.4(PLCD1):c.1724-186C>G	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385492	NM_006225.4(PLCD1):c.1692C>T (p.Pro564=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2516335	NM_006225.4(PLCD1):c.1687A>G (p.Ser563Gly)	PLCD1 (S563G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 30241	NM_006225.4(PLCD1):c.1657G>A (p.Ala553Thr)	PLCD1 (A574T +1 more)	Single nucleotide variant (missense variant +1 more)	PLCD1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 746748	NM_006225.4(PLCD1):c.1650C>T (p.Ile550=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3044078	NM_006225.4(PLCD1):c.1644C>T (p.Ser548=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	PLCD1-related disorder	GLikely benign
Select item 3057682	NM_006225.4(PLCD1):c.1638C>T (p.His546=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	PLCD1-related disorder	GLikely benign
Select item 3214422	NM_006225.4(PLCD1):c.1630G>A (p.Val544Met)	PLCD1 (V544M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708751	NM_006225.4(PLCD1):c.1629C>T (p.Asn543=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1273578	NM_006225.4(PLCD1):c.1607-42C>T	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2064069	NM_006225.4(PLCD1):c.1588C>T (p.Arg530Ter)	PLCD1 (R551* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 789276	NM_006225.4(PLCD1):c.1554C>T (p.Tyr518=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2250891	NM_006225.4(PLCD1):c.1553A>G (p.Tyr518Cys)	PLCD1 (Y539C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559520	NM_006225.4(PLCD1):c.1538C>G (p.Pro513Arg)	PLCD1 (P513R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242164	NM_006225.4(PLCD1):c.1508A>C (p.His503Pro)	PLCD1 (H503P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400624	NM_006225.4(PLCD1):c.1496G>C (p.Cys499Ser)	PLCD1 (C499S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2635865	NM_006225.4(PLCD1):c.1483del (p.Met495fs)	PLCD1 (M495fs +1 more)	Deletion (frameshift variant +1 more)	PLCD1-related disorder	GLikely pathogenic
Select item 3214421	NM_006225.4(PLCD1):c.1462C>A (p.Leu488Ile)	PLCD1 (L509I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311587	NM_006225.4(PLCD1):c.1441C>A (p.Pro481Thr)	PLCD1 (P481T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455046	NM_006225.4(PLCD1):c.1427G>A (p.Arg476His)	PLCD1 (R497H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1305116	NM_006225.4(PLCD1):c.1397C>G (p.Ala466Gly)	PLCD1 (A466G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3346533	NM_006225.4(PLCD1):c.1384G>A (p.Glu462Lys)	PLCD1 (E462K +1 more)	Single nucleotide variant (missense variant +1 more)	PLCD1-related disorder	GUncertain significance
Select item 785038	NM_006225.4(PLCD1):c.1383C>T (p.Asp461=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3058968	NM_006225.4(PLCD1):c.1379C>T (p.Ser460Leu)	PLCD1 (S460L +1 more)	Single nucleotide variant (missense variant +1 more)	PLCD1-related disorder	GBenign
Select item 3307324	NM_006225.4(PLCD1):c.1366G>A (p.Ala456Thr)	PLCD1 (A456T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214419	NM_006225.4(PLCD1):c.1349G>A (p.Gly450Glu)	PLCD1 (G471E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547322	NM_006225.4(PLCD1):c.1342C>T (p.Pro448Ser)	PLCD1 (P448S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214418	NM_006225.4(PLCD1):c.1314G>T (p.Lys438Asn)	PLCD1 (K438N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316709	NM_006225.4(PLCD1):c.1250C>G (p.Pro417Arg)	PLCD1 (P417R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 30239	NM_006225.4(PLCD1):c.1246C>T (p.Arg416Ter)	PLCD1 (R437* +1 more)	Single nucleotide variant (nonsense +1 more)	Nonsyndromic congenital nail disorder 3	GPathogenic
Select item 3307321	NM_006225.4(PLCD1):c.1217A>C (p.His406Pro)	PLCD1 (H406P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214417	NM_006225.4(PLCD1):c.1208G>A (p.Arg403Gln)	PLCD1 (R403Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605562	NM_006225.4(PLCD1):c.1207C>T (p.Arg403Trp)	PLCD1 (R403W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065906	NM_006225.4(PLCD1):c.1205C>T (p.Ala402Val)	PLCD1 (A402V +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic congenital nail disorder 3	GUncertain significance
Select item 2352868	NM_006225.4(PLCD1):c.1198G>A (p.Val400Met)	PLCD1 (V421M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3351246	NM_006225.4(PLCD1):c.1155dup (p.Ile386fs)	PLCD1 (I386fs +1 more)	Duplication (frameshift variant +1 more)	PLCD1-related disorder	GLikely pathogenic
Select item 3214416	NM_006225.4(PLCD1):c.1139C>T (p.Ala380Val)	PLCD1 (A401V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214415	NM_006225.4(PLCD1):c.1138G>A (p.Ala380Thr)	PLCD1 (A380T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068029	NM_006225.4(PLCD1):c.1137+5G>C	PLCD1	Single nucleotide variant (non-coding transcript variant +1 more)	Nonsyndromic congenital nail disorder 3	GUncertain significance
Select item 3065867	NM_006225.4(PLCD1):c.1118T>C (p.Ile373Thr)	PLCD1 (I373T +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic congenital nail disorder 3	GUncertain significance
Select item 3214414	NM_006225.4(PLCD1):c.1073A>G (p.Tyr358Cys)	PLCD1 (Y358C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514169	NM_006225.4(PLCD1):c.1069G>A (p.Gly357Ser)	PLCD1 (G357S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315131	NM_006225.4(PLCD1):c.1057A>G (p.Ile353Val)	PLCD1 (I353V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1333358	NM_006225.4(PLCD1):c.1016G>T (p.Cys339Phe)	PLCD1 (C339F +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic congenital nail disorder 3	GUncertain significance
Select item 3051795	NM_006225.4(PLCD1):c.993-4G>A	PLCD1	Single nucleotide variant (intron variant)	PLCD1-related disorder	GLikely benign
Select item 3046127	NM_006225.4(PLCD1):c.993-5C>T	PLCD1	Single nucleotide variant (intron variant)	PLCD1-related disorder	GLikely benign
Select item 2663335	NM_006225.4(PLCD1):c.992G>A (p.Arg331Gln)	PLCD1 (R331Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2542452	NM_006225.4(PLCD1):c.991C>T (p.Arg331Trp)	PLCD1 (R331W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3026759	NM_006225.4(PLCD1):c.939C>G (p.Thr313=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1244265	NM_006225.4(PLCD1):c.903A>G (p.Pro301=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 785039	NM_006225.4(PLCD1):c.895G>A (p.Gly299Ser)	PLCD1 (G320S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 783997	NM_006225.4(PLCD1):c.877C>T (p.Arg293Cys)	PLCD1 (R314C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3214438	NM_006225.4(PLCD1):c.875G>A (p.Arg292His)	PLCD1 (R292H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214437	NM_006225.4(PLCD1):c.872A>C (p.His291Pro)	PLCD1 (H291P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 738969	NM_006225.4(PLCD1):c.870A>C (p.Ala290=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2364773	NM_006225.4(PLCD1):c.856G>A (p.Ala286Thr)	PLCD1 (A307T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307323	NM_006225.4(PLCD1):c.850G>A (p.Gly284Ser)	PLCD1 (G284S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 729308	NM_006225.4(PLCD1):c.849C>T (p.Asp283=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3040855	NM_006225.4(PLCD1):c.843G>A (p.Ser281=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	PLCD1-related disorder	GLikely benign
Select item 3214436	NM_006225.4(PLCD1):c.803G>A (p.Arg268Gln)	PLCD1 (R289Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 722257	NM_006225.4(PLCD1):c.797C>T (p.Ala266Val)	PLCD1 (A266V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1221088	NM_006225.4(PLCD1):c.790+300dup	PLCD1	Duplication (intron variant)	not provided	GBenign
Select item 1180373	NM_006225.4(PLCD1):c.790+92C>G	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237863	NM_006225.4(PLCD1):c.770G>A (p.Arg257His)	PLCD1 (R257H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3050810	NM_006225.4(PLCD1):c.747G>A (p.Ala249=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	PLCD1-related disorder	GLikely benign
Select item 783370	NM_006225.4(PLCD1):c.735G>A (p.Ala245=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3214434	NM_006225.4(PLCD1):c.731A>C (p.Glu244Ala)	PLCD1 (E265A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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