"Athena Diagnostics Inc"[submitter] AND "PLCE1"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260716	NM_016341.4(PLCE1):c.227C>T (p.Ala76Val)	PLCE1 (A76V)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GBenign/Likely benign
Select item 260723	NM_016341.4(PLCE1):c.513G>A (p.Val171=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 586321	NM_016341.4(PLCE1):c.599C>T (p.Thr200Ile)	PLCE1 (T200I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 586318	NM_016341.4(PLCE1):c.1201T>C (p.Tyr401His)	PLCE1 (Y401H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 448041	NM_016341.4(PLCE1):c.1400C>T (p.Thr467Ile)	PLCE1 (T467I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 260711	NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr)	PLCE1 (S469T +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GBenign/Likely benign
Select item 301699	NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys)	PLCE1 (R499C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 448042	NM_016341.4(PLCE1):c.1927G>T (p.Ala643Ser)	PLCE1 (A643S +1 more)	Single nucleotide variant (missense variant)	PLCE1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 880502	NM_016341.4(PLCE1):c.2032A>G (p.Met678Val)	PLCE1 (M370V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 260715	NM_016341.4(PLCE1):c.2124G>A (p.Val708=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 301704	NM_016341.4(PLCE1):c.2352C>T (p.Asp784=)	PLCE1	Single nucleotide variant (synonymous variant)	Kidney disorder +2 more	GConflicting classifications of pathogenicity
Select item 586319	NM_016341.4(PLCE1):c.2786G>C (p.Ser929Thr)	PLCE1 (S929T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 805205	NM_016341.4(PLCE1):c.2995T>C (p.Phe999Leu)	PLCE1 (F691L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 301711	NM_016341.4(PLCE1):c.3183C>T (p.Pro1061=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +1 more	GConflicting classifications of pathogenicity
Select item 586320	NM_016341.4(PLCE1):c.3518C>T (p.Ser1173Phe)	PLCE1 (S1173F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 260719	NM_016341.4(PLCE1):c.4263G>A (p.Ser1421=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +2 more	GBenign
Select item 768379	NM_016341.4(PLCE1):c.4733A>G (p.Asn1578Ser)	PLCE1, PLCE1-AS1 (N1270S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 301731	NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile)	PLCE1 (V1928I +2 more)	Single nucleotide variant (missense variant)	PLCE1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 448043	NM_016341.4(PLCE1):c.6481G>A (p.Ala2161Thr)	NOC3L, PLCE1 (A2161T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 448044	NM_016341.4(PLCE1):c.6853GAG[1] (p.Glu2286del)	NOC3L, PLCE1 (E2286del +2 more)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 23