"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NOC3L"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1640597	NM_016341.4(PLCE1):c.6342+15G>A	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 877992	NM_016341.4(PLCE1):c.6446C>T (p.Pro2149Leu)	NOC3L, PLCE1 (P1841L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 18422	NM_016341.4(PLCE1):c.6448C>T (p.Arg2150Ter)	NOC3L, PLCE1 (R2150* +2 more)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 3	GPathogenic
Select item 1672108	NM_016341.4(PLCE1):c.6501+18C>T	NOC3L, PLCE1	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 3 +1 more	GBenign/Likely benign
Select item 426425	NM_016341.4(PLCE1):c.6518A>G (p.Lys2173Arg)	NOC3L, PLCE1 (K2173R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 800752	NM_016341.4(PLCE1):c.6757G>A (p.Ala2253Thr)	NOC3L, PLCE1 (A1945T +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 448044	NM_016341.4(PLCE1):c.6853GAG[1] (p.Glu2286del)	NOC3L, PLCE1 (E2286del +2 more)	Microsatellite (inframe_deletion)	Nephrotic syndrome, type 3 +2 more	GConflicting classifications of pathogenicity
Select item 1658133	NM_016341.4(PLCE1):c.6862C>A (p.Pro2288Thr)	PLCE1, NOC3L (P1980T +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GBenign/Likely benign