PLK4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 145990	GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1	ABHD18, C4orf33 +113 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148326	GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)x1	ABHD18, HSPA4L +22 more	Copy number loss	See cases	GUncertain significance
Select item 60198	GRCh38/hg38 4q28.1-28.2(chr4:127788856-128114180)x1	ABHD18, HSPA4L +15 more	Copy number loss	See cases	GUncertain significance
Select item 1366211	NM_014264.5(PLK4):c.5C>T (p.Ala2Val)	PLK4, LOC129993054 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065038	NM_014264.5(PLK4):c.8C>T (p.Thr3Ile)	LOC129993054, PLK4 (T3I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1096118	NM_014264.5(PLK4):c.9C>G (p.Thr3=)	LOC129993054, PLK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 759909	NM_014264.5(PLK4):c.9C>T (p.Thr3=)	LOC129993054, PLK4	Single nucleotide variant (synonymous variant)	PLK4-related disorder +1 more	GLikely benign
Select item 2013559	NM_014264.5(PLK4):c.10T>A (p.Cys4Ser)	LOC129993054, PLK4 (C4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115440	NM_014264.5(PLK4):c.11G>A (p.Cys4Tyr)	LOC129993054, PLK4 (C4Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375316	NM_014264.5(PLK4):c.11G>C (p.Cys4Ser)	LOC129993054, PLK4 (C4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1007710	NM_014264.5(PLK4):c.13A>G (p.Ile5Val)	LOC129993054, PLK4 (I5V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 436338	NM_014264.5(PLK4):c.17G>A (p.Gly6Glu)	LOC129993054, PLK4 (G6E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1406223	NM_014264.5(PLK4):c.30+5A>G	LOC129993054, PLK4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1155103	NM_014264.5(PLK4):c.30+9A>G	LOC129993054, PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771633	NM_014264.5(PLK4):c.30+16A>C	LOC129993054, PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2030762	NM_014264.5(PLK4):c.30+19C>G	LOC129993054, PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1090621	NM_014264.5(PLK4):c.31-10A>G	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949039	NM_014264.5(PLK4):c.31-8C>T	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1379400	NM_014264.5(PLK4):c.31-7T>G	PLK4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2077885	NM_014264.5(PLK4):c.35T>A (p.Phe12Tyr)	PLK4 (F12Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 960158	NM_014264.5(PLK4):c.37A>T (p.Lys13Ter)	PLK4 (K13*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1714219	NM_014264.5(PLK4):c.52C>A (p.Leu18Ile)	PLK4 (L18I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1506822	NM_014264.5(PLK4):c.52C>T (p.Leu18Phe)	PLK4 (L18F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1075626	NM_014264.5(PLK4):c.60del (p.Gly21fs)	PLK4 (G21fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2127217	NM_014264.5(PLK4):c.59A>G (p.Lys20Arg)	PLK4 (K20R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1458419	NM_014264.5(PLK4):c.62del (p.Gly21fs)	PLK4 (G21fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1408596	NM_014264.5(PLK4):c.62G>T (p.Gly21Val)	PLK4 (G21V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1555006	NM_014264.5(PLK4):c.66A>G (p.Ser22=)	PLK4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1631324	NM_014264.5(PLK4):c.82A>C (p.Arg28=)	PLK4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1462765	NM_014264.5(PLK4):c.84A>T (p.Arg28Ser)	PLK4 (R28S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1371904	NM_014264.5(PLK4):c.98A>G (p.His33Arg)	PLK4 (H33R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1443749	NM_014264.5(PLK4):c.104G>A (p.Gly35Asp)	PLK4 (G35D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1020155	NM_014264.5(PLK4):c.108G>T (p.Leu36Phe)	PLK4 (L36F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1375817	NM_014264.5(PLK4):c.116C>A (p.Ala39Glu)	PLK4 (A39E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1575570	NM_014264.5(PLK4):c.120C>A (p.Ile40=)	PLK4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1038350	NM_014264.5(PLK4):c.120C>G (p.Ile40Met)	PLK4 (I40M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1446121	NM_014264.5(PLK4):c.124A>G (p.Met42Val)	PLK4 (M42V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 989335	NM_014264.5(PLK4):c.126+1G>A	PLK4	Single nucleotide variant (splice donor variant)	PLK4-related microcephaly and growth failure with or without ocular features	GLikely pathogenic
Select item 854633	NM_014264.5(PLK4):c.126+5G>C	PLK4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1114637	NM_014264.5(PLK4):c.126+7A>G	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1123173	NM_014264.5(PLK4):c.126+11_126+15del	PLK4	Deletion (intron variant)	not provided	GLikely benign
Select item 2996305	NM_014264.5(PLK4):c.126+10A>G	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984314	NM_014264.5(PLK4):c.126+13T>G	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900241	NM_014264.5(PLK4):c.126+19A>G	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286494	NM_014264.5(PLK4):c.126+78G>A	PLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247820	NM_014264.5(PLK4):c.126+222A>G	PLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252636	NM_014264.5(PLK4):c.127-258del	PLK4	Deletion (intron variant)	not provided	GBenign
Select item 1654597	NM_014264.5(PLK4):c.127-11G>A	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1494543	NM_014264.5(PLK4):c.127A>G (p.Ile43Val)	PLK4 (I2V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2164187	NM_014264.5(PLK4):c.138A>C (p.Lys46Asn)	PLK4 (K5N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2420901	NM_014264.5(PLK4):c.142A>G (p.Met48Val)	PLK4 (M48V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1505068	NM_014264.5(PLK4):c.160G>A (p.Val54Ile)	PLK4 (V54I +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly and chorioretinopathy 2 +1 more	GUncertain significance
Select item 436339	NM_014264.5(PLK4):c.162A>G (p.Val54=)	PLK4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1417673	NM_014264.5(PLK4):c.163C>A (p.Gln55Lys)	PLK4 (Q14K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1457246	NM_014264.5(PLK4):c.168_169del (p.Arg56fs)	PLK4 (R56fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 1057838	NM_014264.5(PLK4):c.165G>C (p.Gln55His)	PLK4 (Q14H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1032615	NM_014264.5(PLK4):c.176A>G (p.Asn59Ser)	PLK4 (N59S +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly and chorioretinopathy 2	GUncertain significance
Select item 2062217	NM_014264.5(PLK4):c.184A>G (p.Lys62Glu)	PLK4 (K21E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1150850	NM_014264.5(PLK4):c.198A>G (p.Gln66=)	PLK4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 253271	NM_014264.5(PLK4):c.201_213del (p.Lys68fs)	PLK4 (K68fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1922554	NM_014264.5(PLK4):c.222+8A>G	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734252	NM_014264.5(PLK4):c.222+9T>C	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572632	NM_014264.5(PLK4):c.222+12del	PLK4	Deletion (intron variant)	not provided	GLikely benign
Select item 1582394	NM_014264.5(PLK4):c.222+17G>A	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649455	NM_014264.5(PLK4):c.223-16C>T	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649456	NM_014264.5(PLK4):c.223-11T>C	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1124739	NM_014264.5(PLK4):c.223-8C>T	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902783	NM_014264.5(PLK4):c.223-7A>G	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1162123	NM_014264.5(PLK4):c.234T>C (p.Tyr78=)	PLK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091313	NM_014264.5(PLK4):c.243T>C (p.Asp81=)	PLK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1379387	NM_014264.5(PLK4):c.244A>G (p.Ser82Gly)	PLK4 (S41G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968927	NM_014264.5(PLK4):c.246C>T (p.Ser82=)	PLK4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1503302	NM_014264.5(PLK4):c.246C>A (p.Ser82Arg)	PLK4 (S41R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1560406	NM_014264.5(PLK4):c.252T>C (p.Tyr84=)	PLK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955819	NM_014264.5(PLK4):c.257A>G (p.Tyr86Cys)	PLK4 (Y45C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967101	NM_014264.5(PLK4):c.264A>G (p.Val88=)	PLK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1521645	NM_014264.5(PLK4):c.268G>C (p.Glu90Gln)	PLK4 (E49Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396599	NM_014264.5(PLK4):c.282T>G (p.Asn94Lys)	PLK4 (N94K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2422125	NM_014264.5(PLK4):c.287A>G (p.Glu96Gly)	PLK4 (E55G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502363	NM_014264.5(PLK4):c.289A>G (p.Met97Val)	PLK4 (M65V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3215338	NM_014264.5(PLK4):c.294C>A (p.Asn98Lys)	PLK4 (N57K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655092	NM_014264.5(PLK4):c.303A>G (p.Leu101=)	PLK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1052603	NM_014264.5(PLK4):c.308A>G (p.Asn103Ser)	PLK4 (N103S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914379	NM_014264.5(PLK4):c.309T>C (p.Asn103=)	PLK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958766	NM_014264.5(PLK4):c.314T>G (p.Val105Gly)	PLK4 (V105G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1455498	NM_014264.5(PLK4):c.319_331del (p.Pro107fs)	PLK4 (P75fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1463351	NM_014264.5(PLK4):c.319C>A (p.Pro107Thr)	PLK4 (P75T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352427	NM_014264.5(PLK4):c.320C>A (p.Pro107His)	PLK4 (P75H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080762	NM_014264.5(PLK4):c.337G>A (p.Ala113Thr)	PLK4 (A113T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2014139	NM_014264.5(PLK4):c.337+12G>T	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921616	NM_014264.5(PLK4):c.337+20dup	PLK4	Duplication (intron variant)	not provided	GBenign
Select item 2049355	NM_014264.5(PLK4):c.337+13T>G	PLK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600035	NM_014264.5(PLK4):c.337+20del	PLK4	Deletion (intron variant)	not provided	GBenign
Select item 1160687	NM_014264.5(PLK4):c.337+25_337+28del	PLK4	Microsatellite (intron variant)	not provided	GLikely benign

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