ClinVar for MedGen (Select 863825) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069188	NM_014264.5(PLK4):c.1658del (p.Pro553fs)	PLK4 (P512fs +2 more)	Deletion (frameshift variant)	Microcephaly and chorioretinopathy 2	GLikely pathogenic
Select item 3064399	NM_014264.5(PLK4):c.1177_1181del (p.Thr393fs)	PLK4 (T352fs +2 more)	Deletion (frameshift variant)	Microcephaly and chorioretinopathy 2	GLikely pathogenic
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 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 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 1157346	NM_014264.5(PLK4):c.609A>G (p.Thr203=)	PLK4	Single nucleotide variant (synonymous variant)	Microcephaly and chorioretinopathy 2 +1 more	GLikely benign
Select item 1041556	NM_014264.5(PLK4):c.2368G>A (p.Glu790Lys)	PLK4 (E749K +2 more)	Single nucleotide variant (missense variant)	Microcephaly and chorioretinopathy 2 +1 more	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 1031259	NM_014264.5(PLK4):c.2562+1G>C	PLK4	Single nucleotide variant (splice donor variant)	Microcephaly and chorioretinopathy 2	GLikely pathogenic
Select item 939314	NM_014264.5(PLK4):c.1935+4A>T	PLK4	Single nucleotide variant (intron variant)	Microcephaly and chorioretinopathy 2 +1 more	GUncertain significance
Select item 741394	NM_014264.5(PLK4):c.2109C>A (p.Ile703=)	PLK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 739801	NM_014264.5(PLK4):c.926A>G (p.Lys309Arg)	PLK4 (K277R +2 more)	Single nucleotide variant (missense variant)	PLK4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 162401	NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs)	PLK4 (F392fs +2 more)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 162400	NM_014264.5(PLK4):c.2811-5C>G	PLK4	Single nucleotide variant (intron variant)	Microcephaly and chorioretinopathy 2	GPathogenic