"Illumina Laboratory Services, Illumina"[submitter] AND "PLCE1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 879217	NM_016341.4(PLCE1):c.-640C>T	LOC130004381, PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301665	NM_016341.4(PLCE1):c.-616_-615dup	LOC130004381, PLCE1	Duplication (5 prime UTR variant)	Nephrotic syndrome	GUncertain significance
Select item 301666	NM_016341.4(PLCE1):c.-558A>G	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GBenign
Select item 301667	NM_016341.4(PLCE1):c.-537G>A	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301668	NM_016341.4(PLCE1):c.-525T>C	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GBenign
Select item 301669	NM_016341.4(PLCE1):c.-468A>G	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 880414	NM_016341.4(PLCE1):c.-459G>A	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301670	NM_016341.4(PLCE1):c.-433G>T	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301671	NM_016341.4(PLCE1):c.-351T>G	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301672	NM_016341.4(PLCE1):c.-287G>A	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GLikely benign
Select item 880415	NM_016341.4(PLCE1):c.-257G>T	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 877653	NM_016341.4(PLCE1):c.-246A>G	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3 +1 more	GBenign/Likely benign
Select item 301673	NM_016341.4(PLCE1):c.-226del	PLCE1	Deletion (5 prime UTR variant)	Nephrotic syndrome	GUncertain significance
Select item 301674	NM_016341.4(PLCE1):c.-165T>C	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GLikely benign
Select item 301675	NM_016341.4(PLCE1):c.-160G>A	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GLikely benign
Select item 301676	NM_016341.4(PLCE1):c.-135G>A	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3 +1 more	GBenign
Select item 877654	NM_016341.4(PLCE1):c.-63C>T	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301677	NM_016341.4(PLCE1):c.-54G>T	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 877655	NM_016341.4(PLCE1):c.-48C>G	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301678	NM_016341.4(PLCE1):c.-47A>G	PLCE1	Single nucleotide variant (5 prime UTR variant)	Nephrotic syndrome, type 3	GLikely benign
Select item 301679	NM_016341.4(PLCE1):c.72G>A (p.Ser24=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878674	NM_016341.4(PLCE1):c.174C>T (p.Asn58=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +1 more	GConflicting classifications of pathogenicity
Select item 301680	NM_016341.4(PLCE1):c.227C>A (p.Ala76Glu)	PLCE1 (A76E)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
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 301681	NM_016341.4(PLCE1):c.296C>T (p.Ala99Val)	PLCE1 (A99V)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GUncertain significance
Select item 301682	NM_016341.4(PLCE1):c.323A>G (p.Asn108Ser)	PLCE1 (N108S)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301683	NM_016341.4(PLCE1):c.441G>A (p.Lys147=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +1 more	GConflicting classifications of pathogenicity
Select item 301684	NM_016341.4(PLCE1):c.459A>G (p.Gln153=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3	GUncertain significance
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 301685	NM_016341.4(PLCE1):c.576A>C (p.Glu192Asp)	PLCE1 (E192D)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301686	NM_016341.4(PLCE1):c.633C>T (p.Asp211=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +1 more	GConflicting classifications of pathogenicity
Select item 879274	NM_016341.4(PLCE1):c.634G>A (p.Asp212Asn)	PLCE1 (D212N)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GUncertain significance
Select item 301687	NM_016341.4(PLCE1):c.642A>T (p.Gly214=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 301688	NM_016341.4(PLCE1):c.664G>C (p.Gly222Arg)	PLCE1 (G222R)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GBenign
Select item 879275	NM_016341.4(PLCE1):c.673A>G (p.Lys225Glu)	PLCE1 (K225E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 301689	NM_016341.4(PLCE1):c.699T>C (p.Tyr233=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 880455	NM_016341.4(PLCE1):c.713T>C (p.Met238Thr)	PLCE1 (M238T)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301690	NM_016341.4(PLCE1):c.724A>C (p.Lys242Gln)	PLCE1 (K242Q)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	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 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 880457	NM_016341.4(PLCE1):c.927T>C (p.Asp309=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301691	NM_016341.4(PLCE1):c.950G>A (p.Ser317Asn)	PLCE1 (S317N)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
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 880458	NM_016341.4(PLCE1):c.1081T>C (p.Trp361Arg)	PLCE1 (W361R)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301692	NM_016341.4(PLCE1):c.1090A>G (p.Ile364Val)	PLCE1 (I364V)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	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	GUncertain significance
Select item 877698	NM_016341.4(PLCE1):c.1193C>G (p.Ala398Gly)	PLCE1 (A398G)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
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 635446	NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile)	PLCE1 (R408I +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 722496	NM_016341.4(PLCE1):c.1228G>A (p.Glu410Lys)	PLCE1 (E102K +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GLikely benign
Select item 301693	NM_016341.4(PLCE1):c.1290G>A (p.Glu430=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 301695	NM_016341.4(PLCE1):c.1383A>G (p.Ser461=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301696	NM_016341.4(PLCE1):c.1389G>A (p.Ser463=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 301697	NM_016341.4(PLCE1):c.1421C>T (p.Thr474Ile)	PLCE1 (T474I +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301698	NM_016341.4(PLCE1):c.1461T>C (p.Phe487=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +1 more	GConflicting classifications of pathogenicity
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 878726	NM_016341.4(PLCE1):c.1496G>A (p.Arg499His)	PLCE1 (R191H +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301700	NM_016341.4(PLCE1):c.1567A>G (p.Ile523Val)	PLCE1 (I523V +1 more)	Single nucleotide variant (missense variant)	PLCE1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 879314	NM_016341.4(PLCE1):c.1569C>T (p.Ile523=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3	GUncertain significance
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 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 301701	NM_016341.4(PLCE1):c.1698T>A (p.Pro566=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3	GUncertain significance
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 879316	NM_016341.4(PLCE1):c.1807G>A (p.Glu603Lys)	PLCE1 (E295K +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GConflicting classifications of pathogenicity
Select item 879317	NM_016341.4(PLCE1):c.1927G>A (p.Ala643Thr)	PLCE1 (A643T +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GUncertain significance
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 880503	NM_016341.4(PLCE1):c.2157C>T (p.Gly719=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +2 more	GBenign/Likely benign
Select item 880504	NM_016341.4(PLCE1):c.2164G>A (p.Gly722Ser)	PLCE1 (G414S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 880505	NM_016341.4(PLCE1):c.2184G>A (p.Pro728=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +1 more	GConflicting classifications of pathogenicity
Select item 301702	NM_016341.4(PLCE1):c.2214+7C>T	PLCE1	Single nucleotide variant (intron variant)	Kidney disorder +2 more	GConflicting classifications of pathogenicity
Select item 301703	NM_016341.4(PLCE1):c.2323C>T (p.Arg775Trp)	PLCE1 (R775W +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	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 301705	NM_016341.4(PLCE1):c.2428A>G (p.Ile810Val)	PLCE1 (I810V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 301706	NM_016341.4(PLCE1):c.2598G>C (p.Thr866=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 301707	NM_016341.4(PLCE1):c.2635C>T (p.Arg879Cys)	PLCE1 (R879C +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301708	NM_016341.4(PLCE1):c.2728G>A (p.Val910Ile)	PLCE1 (V910I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 301709	NM_016341.4(PLCE1):c.2770G>A (p.Gly924Ser)	PLCE1 (G924S +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 877734	NM_016341.4(PLCE1):c.2827G>T (p.Ala943Ser)	PLCE1 (A635S +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 877735	NM_016341.4(PLCE1):c.2842C>T (p.His948Tyr)	PLCE1 (H640Y +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 878767	NM_016341.4(PLCE1):c.2864C>G (p.Thr955Ser)	PLCE1 (T647S +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 769371	NM_016341.4(PLCE1):c.2999G>A (p.Ser1000Asn)	PLCE1 (S1000N +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +4 more	GConflicting classifications of pathogenicity
Select item 878768	NM_016341.4(PLCE1):c.3098A>C (p.Glu1033Ala)	PLCE1 (E1033A +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
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)	PLCE1-related condition +2 more	GConflicting classifications of pathogenicity
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 878769	NM_016341.4(PLCE1):c.3184G>A (p.Gly1062Arg)	PLCE1 (G1062R +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
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 301712	NM_016341.4(PLCE1):c.3279+4G>T	PLCE1	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301713	NM_016341.4(PLCE1):c.3279+12T>C	PLCE1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 879356	NM_016341.4(PLCE1):c.3281G>T (p.Gly1094Val)	PLCE1 (G786V +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GConflicting classifications of pathogenicity
Select item 301714	NM_016341.4(PLCE1):c.3281G>C (p.Gly1094Ala)	PLCE1 (G1094A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 879358	NM_016341.4(PLCE1):c.3449A>G (p.His1150Arg)	PLCE1 (H1150R +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301715	NM_016341.4(PLCE1):c.3579C>T (p.His1193=)	PLCE1	Single nucleotide variant (synonymous variant)	Kidney disorder +2 more	GConflicting classifications of pathogenicity
Select item 879359	NM_016341.4(PLCE1):c.3583C>T (p.Arg1195Trp)	PLCE1 (R1195W +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance

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