"GeneDx"[submitter] AND "PLK4"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 27

	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 145990	GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1	ABHD18, C4orf33 +113 more	Copy number loss	See cases	GPathogenic
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 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 1260641	NM_014264.5(PLK4):c.338-273C>T	PLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1009625	NM_014264.5(PLK4):c.554G>A (p.Arg185Gln)	PLK4 (R144Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166823	NM_014264.5(PLK4):c.694T>A (p.Ser232Thr)	PLK4 (S191T +2 more)	Single nucleotide variant (missense variant)	Microcephaly and chorioretinopathy 2 +1 more	GBenign
Select item 2031876	NM_014264.5(PLK4):c.938T>C (p.Leu313Ser)	PLK4 (L281S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 162401	NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs)	PLK4 (F392fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1308384	NM_014264.5(PLK4):c.1710G>T (p.Gln570His)	PLK4 (Q529H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502484	NM_014264.5(PLK4):c.1713C>T (p.Ser571=)	PLK4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 436340	NM_014264.5(PLK4):c.1775C>T (p.Ser592Phe)	PLK4 (S592F +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1302103	NM_014264.5(PLK4):c.1889A>G (p.Gln630Arg)	PLK4 (Q589R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 393176	NM_014264.5(PLK4):c.1948T>C (p.Tyr650His)	PLK4 (Y650H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1227201	NM_014264.5(PLK4):c.2039-254G>T	PLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1423821	NM_014264.5(PLK4):c.2138T>C (p.Ile713Thr)	PLK4 (I672T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1282128	NM_014264.5(PLK4):c.2189-36G>A	PLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166296	NM_014264.5(PLK4):c.2241G>A (p.Gly747=)	PLK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1166824	NM_014264.5(PLK4):c.2490G>T (p.Glu830Asp)	PLK4 (E789D +2 more)	Single nucleotide variant (missense variant)	Microcephaly and chorioretinopathy 2 +1 more	GBenign
Select item 1281898	NM_014264.5(PLK4):c.2563-139T>A	PLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180007	NM_014264.5(PLK4):c.2563-56A>G	PLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 964385	NM_014264.5(PLK4):c.2659C>T (p.Leu887Phe)	PLK4 (L846F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1165339	NM_014264.5(PLK4):c.2703+12C>G	PLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306562	NM_014264.5(PLK4):c.2806A>G (p.Thr936Ala)	PLK4 (T895A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 27