"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260733	NM_016341.4(PLCE1):c.810T>C (p.Cys270=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +2 more	GBenign
Select item 260734	NM_016341.4(PLCE1):c.960G>A (p.Glu320=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +2 more	GBenign
Select item 260711	NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr)	PLCE1 (S469T +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +3 more	GBenign/Likely benign
Select item 260712	NM_016341.4(PLCE1):c.1643G>T (p.Arg548Leu)	PLCE1 (R548L +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GBenign
Select item 260714	NM_016341.4(PLCE1):c.2076A>T (p.Thr692=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 260720	NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro)	PLCE1, PLCE1-AS1 (R1575P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Focal segmental glomerulosclerosis +3 more	GBenign
Select item 260722	NM_016341.4(PLCE1):c.5035+12C>A	PLCE1, PLCE1-AS1	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 3 +2 more	GBenign
Select item 260724	NM_016341.4(PLCE1):c.5330C>T (p.Thr1777Ile)	PLCE1 (T1777I +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GBenign
Select item 260728	NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg)	PLCE1 (H1927R +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GBenign