"PreventionGenetics, part of Exact Sciences"[submitter] AND "PLCE1"[ge - ClinVar

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Items: 72

	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)	not provided +3 more	GBenign/Likely benign
Select item 3029875	NM_016341.4(PLCE1):c.297G>A (p.Ala99=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related disorder	GLikely benign
Select item 260723	NM_016341.4(PLCE1):c.513G>A (p.Val171=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related disorder +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 1664946	NM_016341.4(PLCE1):c.621C>T (p.Asn207=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 260731	NM_016341.4(PLCE1):c.651A>G (p.Val217=)	PLCE1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 260733	NM_016341.4(PLCE1):c.810T>C (p.Cys270=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2057248	NM_016341.4(PLCE1):c.877G>T (p.Ala293Ser)	PLCE1 (A293S)	Single nucleotide variant (missense variant)	PLCE1-related disorder +2 more	GUncertain significance
Select item 260734	NM_016341.4(PLCE1):c.960G>A (p.Glu320=)	PLCE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3048991	NM_016341.4(PLCE1):c.1207-43089G>A	PLCE1, PLCE1-AS2	Single nucleotide variant (5 prime UTR variant +1 more)	PLCE1-related disorder	GBenign
Select item 3042887	NM_016341.4(PLCE1):c.1207-43013G>T	PLCE1, PLCE1-AS2 (V23L)	Single nucleotide variant (missense variant +1 more)	PLCE1-related disorder	GUncertain significance
Select item 3039397	NM_016341.4(PLCE1):c.1207-43013G>A	PLCE1, PLCE1-AS2 (V23M)	Single nucleotide variant (missense variant +1 more)	PLCE1-related disorder	GLikely benign
Select item 3043575	NM_016341.4(PLCE1):c.1207-42904C>T	PLCE1, PLCE1-AS2 (T59M)	Single nucleotide variant (missense variant +1 more)	PLCE1-related disorder	GLikely benign
Select item 3030786	NM_016341.4(PLCE1):c.1260C>T (p.Leu420=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related disorder	GLikely benign
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 +2 more	GLikely benign
Select item 3036371	NM_016341.4(PLCE1):c.1332A>G (p.Gln444=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related disorder	GLikely benign
Select item 1906716	NM_016341.4(PLCE1):c.1371C>T (p.Leu457=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3054122	NM_016341.4(PLCE1):c.1401C>T (p.Thr467=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related disorder	GLikely benign
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 2872887	NM_016341.4(PLCE1):c.1512T>C (p.Ser504=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3046851	NM_016341.4(PLCE1):c.1560G>A (p.Lys520=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related disorder	GLikely benign
Select item 301700	NM_016341.4(PLCE1):c.1567A>G (p.Ile523Val)	PLCE1 (I523V +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease +3 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)	not provided +3 more	GBenign
Select item 260713	NM_016341.4(PLCE1):c.1729G>A (p.Ala577Thr)	PLCE1 (A577T +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GConflicting classifications of pathogenicity
Select item 448042	NM_016341.4(PLCE1):c.1927G>T (p.Ala643Ser)	PLCE1 (A643S +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GConflicting classifications of pathogenicity
Select item 2887795	NM_016341.4(PLCE1):c.1956-10C>T	PLCE1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 260715	NM_016341.4(PLCE1):c.2124G>A (p.Val708=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +3 more	GBenign/Likely benign
Select item 2066775	NM_016341.4(PLCE1):c.2154C>T (p.Asp718=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related disorder +1 more	GLikely benign
Select item 880503	NM_016341.4(PLCE1):c.2157C>T (p.Gly719=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related disorder +2 more	GBenign/Likely benign
Select item 301705	NM_016341.4(PLCE1):c.2428A>G (p.Ile810Val)	PLCE1 (I810V +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +2 more	GBenign/Likely benign
Select item 3058321	NM_016341.4(PLCE1):c.2769G>T (p.Leu923=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related disorder	GLikely benign
Select item 2630437	NM_016341.4(PLCE1):c.2817del (p.Phe939fs)	PLCE1 (F631fs +1 more)	Deletion (frameshift variant)	PLCE1-related disorder	GLikely pathogenic
Select item 562433	NM_016341.4(PLCE1):c.2960A>G (p.His987Arg)	PLCE1 (H987R +1 more)	Single nucleotide variant (missense variant)	PLCE1-related disorder	GUncertain significance
Select item 769371	NM_016341.4(PLCE1):c.2999G>A (p.Ser1000Asn)	PLCE1 (S1000N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 260717	NM_016341.4(PLCE1):c.3132C>T (p.His1044=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +3 more	GBenign
Select item 301710	NM_016341.4(PLCE1):c.3133G>T (p.Ala1045Ser)	PLCE1 (A1045S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 879356	NM_016341.4(PLCE1):c.3281G>T (p.Gly1094Val)	PLCE1 (G786V +1 more)	Single nucleotide variant (missense variant)	PLCE1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1712480	NM_016341.4(PLCE1):c.3492G>A (p.Thr1164=)	PLCE1	Single nucleotide variant (synonymous variant)	Kidney disorder +1 more	GLikely benign
Select item 3054897	NM_016341.4(PLCE1):c.3565A>G (p.Ser1189Gly)	PLCE1 (S1173G +2 more)	Single nucleotide variant (missense variant)	PLCE1-related disorder	GLikely benign
Select item 2628753	NM_016341.4(PLCE1):c.3580G>A (p.Gly1194Arg)	PLCE1 (G1178R +2 more)	Single nucleotide variant (missense variant)	PLCE1-related disorder	GUncertain significance
Select item 1210225	NM_016341.4(PLCE1):c.3595G>A (p.Gly1199Ser)	PLCE1 (G1183S +2 more)	Single nucleotide variant (missense variant)	PLCE1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 3030104	NM_016341.4(PLCE1):c.3677+5A>T	PLCE1	Single nucleotide variant (intron variant)	PLCE1-related disorder	GLikely benign
Select item 2958980	NM_016341.4(PLCE1):c.3795C>T (p.Ser1265=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2179383	NM_016341.4(PLCE1):c.3996C>T (p.Phe1332=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3051180	NM_016341.4(PLCE1):c.4053+7G>A	PLCE1	Single nucleotide variant (intron variant)	PLCE1-related disorder	GLikely benign
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 260719	NM_016341.4(PLCE1):c.4263G>A (p.Ser1421=)	PLCE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3061208	NM_016341.4(PLCE1):c.4264G>A (p.Val1422Ile)	PLCE1 (V1114I +2 more)	Single nucleotide variant (missense variant)	PLCE1-related disorder	GUncertain significance
Select item 3031197	NM_016341.4(PLCE1):c.4332C>T (p.Asp1444=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related disorder	GLikely benign
Select item 3039762	NM_016341.4(PLCE1):c.4390-6T>C	PLCE1	Single nucleotide variant (intron variant)	PLCE1-related disorder	GLikely 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)	Nephrotic syndrome, type 3 +3 more	GBenign
Select item 3031934	NM_016341.4(PLCE1):c.4795+8A>G	PLCE1, PLCE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	PLCE1-related disorder	GLikely benign
Select item 2636945	NM_016341.4(PLCE1):c.4887dup (p.Ala1630fs)	PLCE1, PLCE1-AS1 (A1322fs +2 more)	Duplication (frameshift variant)	PLCE1-related disorder	GLikely pathogenic
Select item 260721	NM_016341.4(PLCE1):c.4902T>C (p.Ala1634=)	PLCE1, PLCE1-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2632883	NM_016341.4(PLCE1):c.5032C>A (p.Pro1678Thr)	PLCE1, PLCE1-AS1 (P1370T +2 more)	Single nucleotide variant (missense variant)	PLCE1-related disorder	GUncertain significance
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 2634683	NM_016341.4(PLCE1):c.5115G>A (p.Pro1705=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related disorder +1 more	GConflicting classifications of pathogenicity
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 260725	NM_016341.4(PLCE1):c.5458+7G>A	PLCE1	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 3 +2 more	GBenign
Select item 2892702	NM_016341.4(PLCE1):c.5458+10C>G	PLCE1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 260726	NM_016341.4(PLCE1):c.5669C>T (p.Pro1890Leu)	PLCE1 (P1890L +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GConflicting classifications of pathogenicity
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 726974	NM_016341.4(PLCE1):c.5778C>T (p.Phe1926=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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
Select item 301731	NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile)	PLCE1 (V1928I +2 more)	Single nucleotide variant (missense variant)	PLCE1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 877832	NM_016341.4(PLCE1):c.5979T>C (p.Ser1993=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related disorder +2 more	GBenign/Likely benign
Select item 260729	NM_016341.4(PLCE1):c.6324C>G (p.Val2108=)	NOC3L, PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +2 more	GBenign
Select item 260730	NM_016341.4(PLCE1):c.6342+13G>A	PLCE1, NOC3L	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 3 +2 more	GBenign
Select item 260732	NM_016341.4(PLCE1):c.6771G>A (p.Lys2257=)	PLCE1, NOC3L	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1658133	NM_016341.4(PLCE1):c.6862C>A (p.Pro2288Thr)	NOC3L, PLCE1 (P1980T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3048914	NM_016341.4(PLCE1):c.6874T>C (p.Leu2292=)	NOC3L, PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related disorder	GLikely benign

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Items: 72