"Yale Center for Mendelian Genomics, Yale University"[submitter] AND " - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344868	NM_016341.4(PLCE1):c.1709del (p.Ser570fs)	PLCE1 (S262fs +1 more)	Deletion (frameshift variant)	Nephrotic syndrome	GLikely pathogenic
Select item 1344869	NM_016341.4(PLCE1):c.2576_2577insT (p.Gln859fs)	PLCE1 (Q551fs +1 more)	Insertion (frameshift variant)	Nephrotic syndrome	GLikely pathogenic
Select item 1344871	NM_016341.4(PLCE1):c.3379_3380del (p.Ile1126_Asn1127insTer)	PLCE1	Deletion (nonsense)	Nephrotic syndrome	GLikely pathogenic
Select item 1344872	NM_016341.4(PLCE1):c.4506+2T>C	PLCE1	Single nucleotide variant (splice donor variant)	Nephrotic syndrome	GLikely pathogenic
Select item 1344873	NM_016341.4(PLCE1):c.4887del (p.Ala1630fs)	PLCE1, PLCE1-AS1 (A1322fs +2 more)	Deletion (frameshift variant)	Nephrotic syndrome	GLikely pathogenic
Select item 635085	NM_016341.4(PLCE1):c.4978_4981del (p.Gln1660fs)	PLCE1, PLCE1-AS1 (Q1660fs +2 more)	Microsatellite (frameshift variant)	Nephrotic syndrome, type 3 +1 more	GPathogenic/Likely pathogenic
Select item 1344874	NM_016341.4(PLCE1):c.5521A>G (p.Lys1841Glu)	PLCE1 (K1533E +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GLikely pathogenic
Select item 1344875	NM_016341.4(PLCE1):c.5951_5953del (p.Asn1984del)	PLCE1 (N1676del +2 more)	Deletion (inframe_deletion)	Nephrotic syndrome	GLikely pathogenic

ClinVar