"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PLCE1"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 879274	NM_016341.4(PLCE1):c.634G>A (p.Asp212Asn)	PLCE1 (D212N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880456	NM_016341.4(PLCE1):c.748C>A (p.Gln250Lys)	PLCE1 (Q250K)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 880458	NM_016341.4(PLCE1):c.1081T>C (p.Trp361Arg)	PLCE1 (W361R)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GConflicting classifications of pathogenicity
Select item 301692	NM_016341.4(PLCE1):c.1090A>G (p.Ile364Val)	PLCE1 (I364V)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GUncertain significance
Select item 877697	NM_016341.4(PLCE1):c.1180C>T (p.Arg394Cys)	PLCE1 (R394C)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GConflicting classifications of pathogenicity
Select item 751881	NM_016341.4(PLCE1):c.1185G>A (p.Leu395=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +1 more	GLikely benign
Select item 586318	NM_016341.4(PLCE1):c.1201T>C (p.Tyr401His)	PLCE1 (Y401H)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GUncertain significance
Select item 301694	NM_016341.4(PLCE1):c.1313T>C (p.Val438Ala)	PLCE1 (V438A +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GLikely benign
Select item 879315	NM_016341.4(PLCE1):c.1642C>T (p.Arg548Cys)	PLCE1 (R240C +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301701	NM_016341.4(PLCE1):c.1698T>A (p.Pro566=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 1418782	NM_016341.4(PLCE1):c.2342T>C (p.Leu781Pro)	PLCE1 (L781P +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GUncertain significance
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 260717	NM_016341.4(PLCE1):c.3132C>T (p.His1044=)	PLCE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 878770	NM_016341.4(PLCE1):c.3215A>G (p.Asn1072Ser)	PLCE1 (N764S +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301714	NM_016341.4(PLCE1):c.3281G>C (p.Gly1094Ala)	PLCE1 (G1094A +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GUncertain significance
Select item 1553500	NM_016341.4(PLCE1):c.3303C>T (p.Asp1101=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 879357	NM_016341.4(PLCE1):c.3335A>G (p.His1112Arg)	PLCE1 (H804R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1303197	NM_016341.4(PLCE1):c.3491C>T (p.Thr1164Met)	PLCE1 (T1164M +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GUncertain significance
Select item 586320	NM_016341.4(PLCE1):c.3518C>T (p.Ser1173Phe)	PLCE1 (S1173F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 301716	NM_016341.4(PLCE1):c.3876G>A (p.Ser1292=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 260718	NM_016341.4(PLCE1):c.4059C>T (p.Phe1353=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +3 more	GBenign/Likely benign
Select item 1179035	NM_016341.4(PLCE1):c.4363dup (p.Thr1455fs)	PLCE1 (T1147fs +2 more)	Duplication (frameshift variant)	Nephrotic syndrome, type 3	GPathogenic
Select item 301722	NM_016341.4(PLCE1):c.4447A>G (p.Ile1483Val)	PLCE1 (I1483V +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 1338991	NM_016341.4(PLCE1):c.4483C>T (p.Arg1495Ter)	PLCE1 (R1187* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 501892	NM_016341.4(PLCE1):c.4724G>A (p.Arg1575Gln)	PLCE1, PLCE1-AS1 (R1575Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 301723	NM_016341.4(PLCE1):c.4733A>T (p.Asn1578Ile)	PLCE1, PLCE1-AS1 (N1578I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephrotic syndrome, type 3	GUncertain significance
Select item 879397	NM_016341.4(PLCE1):c.5168-6G>C	PLCE1	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 3	GLikely benign
Select item 879780	NM_016341.4(PLCE1):c.5607A>G (p.Ala1869=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1404309	NM_016341.4(PLCE1):c.5612A>G (p.Tyr1871Cys)	PLCE1 (Y1563C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 260727	NM_016341.4(PLCE1):c.5670G>A (p.Pro1890=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +1 more	GLikely benign
Select item 301731	NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile)	PLCE1 (V1928I +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GConflicting classifications of pathogenicity
Select item 301732	NM_016341.4(PLCE1):c.5840C>T (p.Ala1947Val)	PLCE1 (A1947V +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GUncertain significance
Select item 877832	NM_016341.4(PLCE1):c.5979T>C (p.Ser1993=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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

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Items: 41